NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)
|
rs1050829
|
0.08672
|
NM_000155.4(GALT):c.940A>G (p.Asn314Asp)
|
rs2070074
|
0.07150
|
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys)
|
rs1800309
|
0.04051
|
NM_000402.4(G6PD):c.292G>A (p.Val98Met)
|
rs1050828
|
0.03616
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser)
|
rs1800307
|
0.00653
|
NM_005609.4(PYGM):c.645G>A (p.Lys215=)
|
rs116315896
|
0.00530
|
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_018255.4(ELP2):c.2396C>T (p.Ala799Val)
|
rs35629953
|
0.00409
|
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr)
|
rs36027220
|
0.00400
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)
|
rs1800546
|
0.00319
|
NM_004563.4(PCK2):c.1756G>A (p.Gly586Ser)
|
rs61737098
|
0.00277
|
NM_014806.5(RUSC2):c.1418C>T (p.Pro473Leu)
|
rs61740253
|
0.00257
|
NM_017721.5(CC2D1A):c.1234A>G (p.Ile412Val)
|
rs191830054
|
0.00256
|
NM_020066.5(FMN2):c.4619C>T (p.Ser1540Leu)
|
rs150801382
|
0.00221
|
NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln)
|
rs146321088
|
0.00197
|
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_005609.4(PYGM):c.148C>T (p.Arg50Ter)
|
rs116987552
|
0.00181
|
NM_024824.5(ZC3H14):c.853A>T (p.Ser285Cys)
|
rs145521296
|
0.00177
|
NM_021957.4(GYS2):c.1553A>C (p.Glu518Ala)
|
rs150433001
|
0.00173
|
NM_000298.6(PKLR):c.814C>G (p.Leu272Val)
|
rs147659527
|
0.00163
|
NM_017721.5(CC2D1A):c.1424C>T (p.Ser475Leu)
|
rs143529486
|
0.00156
|
NM_015275.3(WASHC4):c.49G>A (p.Asp17Asn)
|
rs191511427
|
0.00154
|
NM_000294.3(PHKG2):c.393G>A (p.Arg131=)
|
rs55751949
|
0.00153
|
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)
|
rs121912616
|
0.00150
|
NM_000199.5(SGSH):c.752G>C (p.Gly251Ala)
|
rs144461610
|
0.00148
|
NM_001041.4(SI):c.1043C>T (p.Pro348Leu)
|
rs77546399
|
0.00138
|
NM_000290.4(PGAM2):c.310G>A (p.Ala104Thr)
|
rs150570281
|
0.00132
|
NM_001041.4(SI):c.1730T>G (p.Val577Gly)
|
rs121912615
|
0.00131
|
NM_000262.3(NAGA):c.280G>A (p.Asp94Asn)
|
rs73167107
|
0.00128
|
NM_003477.3(PDHX):c.589C>A (p.Leu197Met)
|
rs139052284
|
0.00111
|
NM_004563.4(PCK2):c.1468+2T>C
|
rs148019349
|
0.00110
|
NM_004130.4(GYG1):c.304G>C (p.Asp102His)
|
rs143137713
|
0.00109
|
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_001160372.4(TRAPPC9):c.3149G>A (p.Arg1050Gln)
|
rs111768745
|
0.00103
|
NM_000155.4(GALT):c.404C>T (p.Ser135Leu)
|
rs111033690
|
0.00094
|
NM_002591.4(PCK1):c.7C>T (p.Pro3Ser)
|
rs147120329
|
0.00091
|
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_016219.5(MAN1B1):c.304A>C (p.Ile102Leu)
|
rs149322865
|
0.00087
|
NM_024989.4(PGAP1):c.2287G>A (p.Val763Ile)
|
rs143960563
|
0.00081
|
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr)
|
rs201826605
|
0.00080
|
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)
|
rs141976414
|
0.00080
|
NM_000158.4(GBE1):c.691+2T>C
|
rs192044702
|
0.00078
|
NM_024989.4(PGAP1):c.331A>G (p.Lys111Glu)
|
rs142320636
|
0.00077
|
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val)
|
rs116135678
|
0.00074
|
NM_001160372.4(TRAPPC9):c.263C>T (p.Ser88Leu)
|
rs139631202
|
0.00072
|
NM_017721.5(CC2D1A):c.2657G>A (p.Arg886His)
|
rs201921029
|
0.00072
|
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg)
|
rs121908529
|
0.00067
|
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_000152.5(GAA):c.2560C>T (p.Arg854Ter)
|
rs121907943
|
0.00063
|
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)
|
rs121965020
|
0.00063
|
NM_017721.5(CC2D1A):c.1192G>A (p.Val398Met)
|
rs201177183
|
0.00062
|
NM_145262.4(GLYCTK):c.791T>A (p.Val264Glu)
|
rs73088796
|
0.00059
|
NM_018255.4(ELP2):c.1381C>A (p.Leu461Ile)
|
rs35094617
|
0.00058
|
NM_001040716.2(PC):c.3107G>A (p.Arg1036His)
|
rs141237842
|
0.00057
|
NM_000027.4(AGA):c.488G>C (p.Cys163Ser)
|
rs121964904
|
0.00055
|
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_012434.5(SLC17A5):c.115C>T (p.Arg39Cys)
|
rs80338794
|
0.00049
|
NM_000289.6(PFKM):c.1727A>T (p.Tyr576Phe)
|
rs370424471
|
0.00048
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
NM_016042.4(EXOSC3):c.448A>G (p.Thr150Ala)
|
rs145464176
|
0.00048
|
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)
|
rs80338685
|
0.00046
|
NM_000108.5(DLD):c.100A>G (p.Thr34Ala)
|
rs138002793
|
0.00045
|
NM_020066.5(FMN2):c.575A>T (p.Gln192Leu)
|
rs150505248
|
0.00044
|
NM_153747.2(PIGC):c.389C>T (p.Thr130Ile)
|
rs146481462
|
0.00043
|
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_032808.7(LINGO1):c.295G>A (p.Glu99Lys)
|
rs150289554
|
0.00040
|
NM_000199.5(SGSH):c.734G>A (p.Arg245His)
|
rs104894635
|
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_002637.4(PHKA1):c.536C>T (p.Ala179Val)
|
rs199608903
|
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_000152.5(GAA):c.752C>T (p.Ser251Leu)
|
rs200856561
|
0.00038
|
NM_001040616.3(LINS1):c.1993G>A (p.Gly665Arg)
|
rs140140023
|
0.00037
|
NM_005327.7(HADH):c.349G>C (p.Val117Leu)
|
rs146732064
|
0.00035
|
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)
|
rs1801175
|
0.00034
|
NM_001160372.4(TRAPPC9):c.3356G>A (p.Arg1119Gln)
|
rs145503551
|
0.00034
|
NM_000152.5(GAA):c.841C>T (p.Arg281Trp)
|
rs142967546
|
0.00033
|
NM_000528.4(MAN2B1):c.2701C>A (p.His901Asn)
|
rs200033151
|
0.00031
|
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter)
|
rs201337954
|
0.00031
|
NM_153747.2(PIGC):c.308T>C (p.Ile103Thr)
|
rs61747503
|
0.00031
|
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp)
|
rs76917243
|
0.00030
|
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys)
|
rs80338671
|
0.00029
|
NM_014026.6(DCPS):c.550G>A (p.Ala184Thr)
|
rs147353126
|
0.00029
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser)
|
rs119103251
|
0.00027
|
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter)
|
rs80356487
|
0.00026
|
NM_001160372.4(TRAPPC9):c.1564G>A (p.Ala522Thr)
|
rs148453804
|
0.00026
|
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)
|
rs80356491
|
0.00026
|
NM_001160372.4(TRAPPC9):c.1898C>T (p.Ala633Val)
|
rs375300224
|
0.00025
|
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_001370658.1(BTD):c.1569C>A (p.Asp523Glu)
|
rs146136265
|
0.00024
|
NM_012203.2(GRHPR):c.374G>A (p.Arg125Gln)
|
rs199560759
|
0.00024
|
NM_017721.5(CC2D1A):c.2495C>G (p.Ala832Gly)
|
rs187418052
|
0.00023
|
NM_000294.3(PHKG2):c.127C>T (p.His43Tyr)
|
rs202177461
|
0.00022
|
NM_003619.4(PRSS12):c.2488_2489del (p.Met830fs)
|
rs560855452
|
0.00022
|
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys)
|
rs104894636
|
0.00021
|
NM_000208.4(INSR):c.3193C>G (p.Leu1065Val)
|
rs56395521
|
0.00021
|
NM_018255.4(ELP2):c.1331T>C (p.Leu444Ser)
|
rs139040517
|
0.00021
|
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys)
|
rs772731615
|
0.00020
|
NM_020066.5(FMN2):c.2200C>T (p.Arg734Trp)
|
rs145706266
|
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_000152.5(GAA):c.693-4G>T
|
rs200088236
|
0.00019
|
NM_004830.4(MED23):c.235C>T (p.Leu79Phe)
|
rs151031376
|
0.00019
|
NM_021956.5(GRIK2):c.922G>A (p.Asp308Asn)
|
rs767667188
|
0.00019
|
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys)
|
rs118203943
|
0.00017
|
NM_000155.4(GALT):c.855G>T (p.Lys285Asn)
|
rs111033773
|
0.00017
|
NM_003477.3(PDHX):c.1129A>G (p.Ile377Val)
|
rs75430333
|
0.00017
|
NM_000030.3(AGXT):c.454T>A (p.Phe152Ile)
|
rs121908524
|
0.00016
|
NM_000108.5(DLD):c.685G>T (p.Gly229Cys)
|
rs121964990
|
0.00016
|
NM_001370658.1(BTD):c.410G>A (p.Arg137His)
|
rs146015592
|
0.00016
|
NM_002863.5(PYGL):c.1582G>A (p.Asp528Asn)
|
rs138461745
|
0.00016
|
NM_006755.2(TALDO1):c.982G>A (p.Glu328Lys)
|
rs369679261
|
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_000199.5(SGSH):c.892T>C (p.Ser298Pro)
|
rs138504221
|
0.00015
|
NM_001160372.4(TRAPPC9):c.3136C>T (p.Arg1046Trp)
|
rs376617920
|
0.00015
|
NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter)
|
rs766383135
|
0.00014
|
NM_001040616.3(LINS1):c.1013C>T (p.Ala338Val)
|
rs763210104
|
0.00014
|
NM_001160372.4(TRAPPC9):c.3211G>A (p.Gly1071Ser)
|
rs200963473
|
0.00014
|
NM_001352514.2(HLCS):c.1843G>C (p.Val615Leu)
|
rs376210604
|
0.00014
|
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr)
|
rs181396238
|
0.00014
|
NM_005536.4(IMPA1):c.379G>C (p.Glu127Gln)
|
rs376742471
|
0.00014
|
NM_000343.4(SLC5A1):c.101T>C (p.Ile34Thr)
|
rs139760182
|
0.00013
|
NM_001040616.3(LINS1):c.134C>T (p.Thr45Ile)
|
rs144575104
|
0.00013
|
NM_004563.4(PCK2):c.287G>A (p.Arg96His)
|
rs770940344
|
0.00013
|
NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter)
|
rs201284672
|
0.00013
|
NM_001160372.4(TRAPPC9):c.2653G>A (p.Glu885Lys)
|
rs138928835
|
0.00012
|
NM_003477.3(PDHX):c.622C>T (p.Arg208Trp)
|
rs61752927
|
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_000030.3(AGXT):c.949C>T (p.Arg317Trp)
|
rs774030578
|
0.00011
|
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp)
|
rs104894637
|
0.00011
|
NM_000343.4(SLC5A1):c.312+3G>A
|
rs200776237
|
0.00011
|
NM_000525.4(KCNJ11):c.941G>A (p.Arg314His)
|
rs145935651
|
0.00011
|
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter)
|
rs12118058
|
0.00011
|
NM_001080510.5(METTL23):c.20C>T (p.Ala7Val)
|
rs201999820
|
0.00011
|
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)
|
rs138818907
|
0.00011
|
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys)
|
rs80338686
|
0.00011
|
NM_020066.5(FMN2):c.2297G>A (p.Arg766His)
|
rs554313620
|
0.00011
|
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val)
|
rs77718928
|
0.00010
|
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter)
|
rs118204429
|
0.00010
|
NM_000152.5(GAA):c.76C>T (p.Leu26Phe)
|
rs149761650
|
0.00010
|
NM_000154.2(GALK1):c.766C>T (p.Arg256Trp)
|
rs376790302
|
0.00010
|
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter)
|
rs104894592
|
0.00010
|
NM_000298.6(PKLR):c.727G>A (p.Gly243Ser)
|
rs745797890
|
0.00010
|
NM_001160372.4(TRAPPC9):c.940G>A (p.Ala314Thr)
|
rs762765901
|
0.00010
|
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)
|
rs104893688
|
0.00010
|
NM_003619.4(PRSS12):c.1640C>A (p.Ala547Asp)
|
rs201005601
|
0.00010
|
NM_005327.7(HADH):c.676T>C (p.Tyr226His)
|
rs146036912
|
0.00010
|
NM_005609.4(PYGM):c.2447G>A (p.Arg816His)
|
rs139230055
|
0.00010
|
NM_020066.5(FMN2):c.4123C>A (p.Leu1375Ile)
|
rs146873580
|
0.00010
|
NM_021956.5(GRIK2):c.613C>T (p.Pro205Ser)
|
rs56067702
|
0.00010
|
NM_000152.5(GAA):c.1979G>A (p.Arg660His)
|
rs374143224
|
0.00009
|
NM_000154.2(GALK1):c.1144C>T (p.Gln382Ter)
|
rs111033608
|
0.00009
|
NM_000642.3(AGL):c.4262A>G (p.Asp1421Gly)
|
rs761264157
|
0.00009
|
NM_001080510.5(METTL23):c.250A>G (p.Ile84Val)
|
rs527442928
|
0.00009
|
NM_001352514.2(HLCS):c.1974dup (p.Val659fs)
|
rs767533946
|
0.00009
|
NM_001370658.1(BTD):c.1395C>G (p.His465Gln)
|
rs201604102
|
0.00009
|
NM_001370658.1(BTD):c.262A>G (p.Ile88Val)
|
rs976185636
|
0.00009
|
NM_002103.5(GYS1):c.1243G>A (p.Asp415Asn)
|
rs573897595
|
0.00009
|
NM_005609.4(PYGM):c.-20C>T
|
rs71581796
|
0.00009
|
NM_005609.4(PYGM):c.1403+5G>A
|
rs373040789
|
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_015275.3(WASHC4):c.641A>G (p.Lys214Arg)
|
rs369855750
|
0.00009
|
NM_000046.5(ARSB):c.454C>T (p.Arg152Trp)
|
rs991104525
|
0.00008
|
NM_000152.5(GAA):c.1194+3G>C
|
rs368539333
|
0.00008
|
NM_000152.5(GAA):c.1552-3C>G
|
rs375470378
|
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_000528.4(MAN2B1):c.1830+1G>C
|
rs80338677
|
0.00008
|
NM_001164277.2(SLC37A4):c.1015G>T (p.Gly339Cys)
|
rs80356490
|
0.00008
|
NM_032808.7(LINGO1):c.70C>G (p.Gln24Glu)
|
rs772748227
|
0.00008
|
NM_153747.2(PIGC):c.812G>A (p.Arg271His)
|
rs370905635
|
0.00008
|
NM_000046.5(ARSB):c.667A>G (p.Ile223Val)
|
rs367650121
|
0.00007
|
NM_000152.5(GAA):c.1048G>A (p.Val350Met)
|
rs200412003
|
0.00007
|
NM_000152.5(GAA):c.1504A>G (p.Met502Val)
|
rs376067362
|
0.00007
|
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser)
|
rs375690568
|
0.00007
|
NM_000294.3(PHKG2):c.985C>T (p.Arg329Trp)
|
rs367711698
|
0.00007
|
NM_000528.4(MAN2B1):c.2046+2T>A
|
rs748712495
|
0.00007
|
NM_001370658.1(BTD):c.566G>A (p.Arg189His)
|
rs398123139
|
0.00007
|
NM_002103.5(GYS1):c.1436C>T (p.Pro479Leu)
|
rs144681053
|
0.00007
|
NM_003597.5(KLF11):c.266C>T (p.Ala89Val)
|
rs766187124
|
0.00007
|
NM_003805.5(CRADD):c.497G>A (p.Arg166His)
|
rs746685035
|
0.00007
|
NM_005609.4(PYGM):c.1768+1G>A
|
rs771427957
|
0.00007
|
NM_012203.2(GRHPR):c.139C>T (p.Arg47Ter)
|
rs774654020
|
0.00007
|
NM_012434.5(SLC17A5):c.1138_1139del (p.Val380fs)
|
rs386833988
|
0.00007
|
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu)
|
rs80338795
|
0.00007
|
NM_138501.6(TECR):c.262G>T (p.Val88Leu)
|
rs753690636
|
0.00007
|
NM_000030.3(AGXT):c.167T>A (p.Ile56Asn)
|
rs180177180
|
0.00006
|
NM_000030.3(AGXT):c.698G>A (p.Arg233His)
|
rs121908527
|
0.00006
|
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr)
|
rs121908525
|
0.00006
|
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys)
|
rs121964992
|
0.00006
|
NM_000152.5(GAA):c.1124G>A (p.Arg375His)
|
rs142752477
|
0.00006
|
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu)
|
rs147327209
|
0.00006
|
NM_000152.5(GAA):c.266G>A (p.Arg89His)
|
rs200586324
|
0.00006
|
NM_000152.5(GAA):c.761C>T (p.Ser254Leu)
|
rs577915581
|
0.00006
|
NM_000152.5(GAA):c.953T>C (p.Met318Thr)
|
rs121907936
|
0.00006
|
NM_000155.4(GALT):c.584T>C (p.Leu195Pro)
|
rs111033728
|
0.00006
|
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter)
|
rs137852888
|
0.00006
|
NM_000158.4(GBE1):c.785G>A (p.Arg262His)
|
rs369574719
|
0.00006
|
NM_000289.6(PFKM):c.237+1G>A
|
rs202143236
|
0.00006
|
NM_000290.4(PGAM2):c.755C>A (p.Ala252Asp)
|
rs752958758
|
0.00006
|
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys)
|
rs118204437
|
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_000642.3(AGL):c.188G>A (p.Arg63His)
|
rs199958942
|
0.00006
|
NM_000642.3(AGL):c.2590C>T (p.Arg864Ter)
|
rs113994130
|
0.00006
|
NM_000642.3(AGL):c.4260-12A>G
|
rs369973784
|
0.00006
|
NM_001040616.3(LINS1):c.1481T>C (p.Ile494Thr)
|
rs772460402
|
0.00006
|
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln)
|
rs113994145
|
0.00006
|
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly)
|
rs28934601
|
0.00006
|
NM_003477.3(PDHX):c.970A>G (p.Ile324Val)
|
rs768103465
|
0.00006
|
NM_005271.5(GLUD1):c.1652A>G (p.Asn551Ser)
|
rs373705613
|
0.00006
|
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg)
|
rs144081869
|
0.00006
|
NM_012203.2(GRHPR):c.734+1G>A
|
rs148049120
|
0.00006
|
NM_012434.5(SLC17A5):c.533del (p.Thr178fs)
|
rs727504156
|
0.00006
|
NM_016219.5(MAN1B1):c.1724A>G (p.Asn575Ser)
|
rs375378489
|
0.00006
|
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys)
|
rs121908526
|
0.00005
|
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val)
|
rs104894565
|
0.00005
|
NM_000152.5(GAA):c.1409A>C (p.Asn470Thr)
|
rs144155165
|
0.00005
|
NM_000152.5(GAA):c.2408A>G (p.Gln803Arg)
|
rs142487534
|
0.00005
|
NM_000152.5(GAA):c.2725G>A (p.Val909Met)
|
rs138407065
|
0.00005
|
NM_000155.4(GALT):c.253-2A>G
|
rs111033661
|
0.00005
|
NM_000158.4(GBE1):c.1544G>A (p.Arg515His)
|
rs201958741
|
0.00005
|
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn)
|
rs753472891
|
0.00005
|
NM_000292.3(PHKA2):c.4C>G (p.Arg2Gly)
|
rs140014925
|
0.00005
|
NM_000925.4(PDHB):c.426A>G (p.Ile142Met)
|
rs151247980
|
0.00005
|
NM_001370658.1(BTD):c.383G>A (p.Arg128His)
|
rs367902696
|
0.00005
|
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys)
|
rs369102875
|
0.00005
|
NM_001543.5(NDST1):c.389G>A (p.Arg130His)
|
rs148227466
|
0.00005
|
NM_005609.4(PYGM):c.2178-1G>A
|
rs143670942
|
0.00005
|
NM_012434.5(SLC17A5):c.719G>A (p.Trp240Ter)
|
rs386833993
|
0.00005
|
NM_014806.5(RUSC2):c.3557G>A (p.Arg1186Gln)
|
rs746338510
|
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_021957.4(GYS2):c.547C>T (p.Gln183Ter)
|
rs201157731
|
0.00005
|
NM_024298.5(MBOAT7):c.1229T>C (p.Met410Thr)
|
rs556354713
|
0.00005
|
NM_000030.3(AGXT):c.121G>A (p.Gly41Arg)
|
rs121908523
|
0.00004
|
NM_000030.3(AGXT):c.568G>A (p.Gly190Arg)
|
rs180177239
|
0.00004
|
NM_000030.3(AGXT):c.613T>C (p.Ser205Pro)
|
rs121908520
|
0.00004
|
NM_000035.4(ALDOB):c.379+1G>T
|
rs138121153
|
0.00004
|
NM_000046.5(ARSB):c.1178A>C (p.His393Pro)
|
rs118203944
|
0.00004
|
NM_000046.5(ARSB):c.455G>A (p.Arg152Gln)
|
rs776814144
|
0.00004
|
NM_000046.5(ARSB):c.971G>T (p.Gly324Val)
|
rs398123125
|
0.00004
|
NM_000108.5(DLD):c.1382G>A (p.Gly461Glu)
|
rs757275923
|
0.00004
|
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys)
|
rs770610356
|
0.00004
|
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu)
|
rs148842275
|
0.00004
|
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter)
|
rs140826989
|
0.00004
|
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro)
|
rs779556619
|
0.00004
|
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer)
|
rs781088002
|
0.00004
|
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu)
|
rs28940868
|
0.00004
|
NM_000152.5(GAA):c.784G>A (p.Glu262Lys)
|
rs201896815
|
0.00004
|
NM_000154.2(GALK1):c.1031C>T (p.Thr344Met)
|
rs371517491
|
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.512T>C (p.Phe171Ser)
|
rs111033715
|
0.00004
|
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys)
|
rs772802187
|
0.00004
|
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala)
|
rs770427750
|
0.00004
|
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys)
|
rs766938111
|
0.00004
|
NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys)
|
rs772311757
|
0.00004
|
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp)
|
rs777267343
|
0.00004
|
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser)
|
rs143947056
|
0.00004
|
NM_000289.6(PFKM):c.298C>T (p.Arg100Ter)
|
rs374547385
|
0.00004
|
NM_000293.3(PHKB):c.30A>C (p.Glu10Asp)
|
rs760502380
|
0.00004
|
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)
|
rs137852339
|
0.00004
|
NM_000404.4(GLB1):c.176G>A (p.Arg59His)
|
rs72555392
|
0.00004
|
NM_000642.3(AGL):c.3965del (p.Val1322fs)
|
rs113994132
|
0.00004
|
NM_001136035.4(TRMT1):c.1833G>A (p.Glu611=)
|
rs778368877
|
0.00004
|
NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter)
|
rs121908979
|
0.00004
|
NM_001352514.2(HLCS):c.2260dup (p.Ser754fs)
|
rs766163167
|
0.00004
|
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter)
|
rs146448211
|
0.00004
|
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys)
|
rs397514345
|
0.00004
|
NM_001370658.1(BTD):c.873del (p.Ser291fs)
|
rs397514395
|
0.00004
|
NM_001543.5(NDST1):c.730C>T (p.Arg244Cys)
|
rs375092472
|
0.00004
|
NM_005327.7(HADH):c.907G>A (p.Gly303Ser)
|
rs201772964
|
0.00004
|
NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg)
|
rs398124209
|
0.00004
|
NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln)
|
rs150911354
|
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_017721.5(CC2D1A):c.1442C>T (p.Ala481Val)
|
rs201665162
|
0.00004
|
NM_017721.5(CC2D1A):c.1724G>A (p.Arg575His)
|
rs760191095
|
0.00004
|
NM_021956.5(GRIK2):c.1138A>T (p.Thr380Ser)
|
rs555425016
|
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_153747.2(PIGC):c.739A>G (p.Ser247Gly)
|
rs751068367
|
0.00004
|
NM_000027.4(AGA):c.319C>T (p.Arg107Ter)
|
rs765070743
|
0.00003
|
NM_000027.4(AGA):c.677G>A (p.Gly226Asp)
|
rs386833431
|
0.00003
|
NM_000030.3(AGXT):c.139G>A (p.Gly47Arg)
|
rs180177173
|
0.00003
|
NM_000030.3(AGXT):c.481G>T (p.Gly161Cys)
|
rs180177227
|
0.00003
|
NM_000030.3(AGXT):c.847-3C>G
|
rs180177286
|
0.00003
|
NM_000035.4(ALDOB):c.-11+1G>C
|
rs181639417
|
0.00003
|
NM_000046.5(ARSB):c.1336+2T>G
|
rs768012515
|
0.00003
|
NM_000108.5(DLD):c.1081A>G (p.Met361Val)
|
rs121964993
|
0.00003
|
NM_000151.4(G6PC1):c.508C>T (p.Arg170Ter)
|
rs373345919
|
0.00003
|
NM_000151.4(G6PC1):c.562G>C (p.Gly188Arg)
|
rs80356482
|
0.00003
|
NM_000152.5(GAA):c.1316T>A (p.Met439Lys)
|
rs747610090
|
0.00003
|
NM_000152.5(GAA):c.1909C>A (p.Leu637Met)
|
rs763301606
|
0.00003
|
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp)
|
rs776948121
|
0.00003
|
NM_000152.5(GAA):c.2105G>A (p.Arg702His)
|
rs398123172
|
0.00003
|
NM_000152.5(GAA):c.2132C>G (p.Thr711Arg)
|
rs759292700
|
0.00003
|
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp)
|
rs121907938
|
0.00003
|
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys)
|
rs144016984
|
0.00003
|
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter)
|
rs780321415
|
0.00003
|
NM_000152.5(GAA):c.2799+4A>G
|
rs778032599
|
0.00003
|
NM_000152.5(GAA):c.307T>G (p.Cys103Gly)
|
rs398123174
|
0.00003
|
NM_000152.5(GAA):c.503G>A (p.Arg168Gln)
|
rs376685205
|
0.00003
|
NM_000152.5(GAA):c.546G>A (p.Thr182=)
|
rs143523371
|
0.00003
|
NM_000152.5(GAA):c.877G>A (p.Gly293Arg)
|
rs121907945
|
0.00003
|
NM_000152.5(GAA):c.925G>A (p.Gly309Arg)
|
rs543300039
|
0.00003
|
NM_000154.2(GALK1):c.94G>A (p.Val32Met)
|
rs104894576
|
0.00003
|
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys)
|
rs111033814
|
0.00003
|
NM_000155.4(GALT):c.200G>A (p.Arg67His)
|
rs758430398
|
0.00003
|
NM_000155.4(GALT):c.292G>A (p.Asp98Asn)
|
rs111033670
|
0.00003
|
NM_000155.4(GALT):c.413C>T (p.Thr138Met)
|
rs111033686
|
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_000158.4(GBE1):c.1571G>A (p.Arg524Gln)
|
rs80338673
|
0.00003
|
NM_000158.4(GBE1):c.293T>G (p.Val98Gly)
|
rs775486403
|
0.00003
|
NM_000158.4(GBE1):c.708G>C (p.Gln236His)
|
rs137852892
|
0.00003
|
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg)
|
rs144143780
|
0.00003
|
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys)
|
rs104894639
|
0.00003
|
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter)
|
rs374621913
|
0.00003
|
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg)
|
rs121965021
|
0.00003
|
NM_000308.4(CTSA):c.601-2A>G
|
rs778159802
|
0.00003
|
NM_000545.8(HNF1A):c.827C>G (p.Ala276Gly)
|
rs137853245
|
0.00003
|
NM_000642.3(AGL):c.16C>T (p.Gln6Ter)
|
rs113994126
|
0.00003
|
NM_000642.3(AGL):c.4283A>C (p.Tyr1428Ser)
|
rs150532164
|
0.00003
|
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter)
|
rs387906244
|
0.00003
|
NM_000925.4(PDHB):c.301A>G (p.Met101Val)
|
rs747573712
|
0.00003
|
NM_001040616.3(LINS1):c.2032C>T (p.Pro678Ser)
|
rs771451811
|
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.3137G>A (p.Arg1046Gln)
|
rs545480303
|
0.00003
|
NM_001164277.2(SLC37A4):c.446G>A (p.Gly149Glu)
|
rs193302892
|
0.00003
|
NM_001352514.2(HLCS):c.1960+5G>A
|
rs753887925
|
0.00003
|
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp)
|
rs119103229
|
0.00003
|
NM_001352514.2(HLCS):c.2121+1G>A
|
rs1175936807
|
0.00003
|
NM_001370658.1(BTD):c.1036_1037dup (p.Gly347fs)
|
rs1004027979
|
0.00003
|
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu)
|
rs397514427
|
0.00003
|
NM_001370658.1(BTD):c.1568A>T (p.Asp523Val)
|
rs1050035768
|
0.00003
|
NM_001370658.1(BTD):c.322T>G (p.Phe108Val)
|
rs397514355
|
0.00003
|
NM_001370658.1(BTD):c.535G>A (p.Val179Met)
|
rs397514375
|
0.00003
|
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser)
|
rs397514377
|
0.00003
|
NM_001370658.1(BTD):c.908A>G (p.His303Arg)
|
rs397507176
|
0.00003
|
NM_002863.5(PYGL):c.2083G>A (p.Gly695Arg)
|
rs368758632
|
0.00003
|
NM_003384.3(VRK1):c.356A>G (p.His119Arg)
|
rs371295780
|
0.00003
|
NM_005327.7(HADH):c.706C>T (p.Arg236Ter)
|
rs375717077
|
0.00003
|
NM_005609.4(PYGM):c.1190T>C (p.Leu397Pro)
|
rs1005687078
|
0.00003
|
NM_005609.4(PYGM):c.1345G>A (p.Gly449Arg)
|
rs769172044
|
0.00003
|
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp)
|
rs780656375
|
0.00003
|
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter)
|
rs767739769
|
0.00003
|
NM_006859.4(LIAS):c.877A>G (p.Met293Val)
|
rs943564525
|
0.00003
|
NM_012203.2(GRHPR):c.905G>A (p.Arg302His)
|
rs180177323
|
0.00003
|
NM_014026.6(DCPS):c.704C>T (p.Pro235Leu)
|
rs151074136
|
0.00003
|
NM_016219.5(MAN1B1):c.1833_1834del (p.Asp613fs)
|
rs1382373816
|
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_024735.5(FBXO31):c.996+4A>G
|
rs765703905
|
0.00003
|
NM_024824.5(ZC3H14):c.1280-1856A>G
|
rs538186371
|
0.00003
|
NM_145262.4(GLYCTK):c.1036C>G (p.Gln346Glu)
|
rs773672318
|
0.00003
|
NM_000027.4(AGA):c.503G>A (p.Trp168Ter)
|
rs386833430
|
0.00002
|
NM_000030.3(AGXT):c.106C>T (p.Arg36Cys)
|
rs180177157
|
0.00002
|
NM_000030.3(AGXT):c.245G>A (p.Gly82Glu)
|
rs121908522
|
0.00002
|
NM_000030.3(AGXT):c.346G>A (p.Gly116Arg)
|
rs180177207
|
0.00002
|
NM_000030.3(AGXT):c.466G>A (p.Gly156Arg)
|
rs121908530
|
0.00002
|
NM_000035.4(ALDOB):c.800-2A>C
|
rs199965465
|
0.00002
|
NM_000046.5(ARSB):c.1143-1G>C
|
rs431905495
|
0.00002
|
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr)
|
rs118203941
|
0.00002
|
NM_000046.5(ARSB):c.305G>A (p.Arg102His)
|
rs759356342
|
0.00002
|
NM_000046.5(ARSB):c.478C>T (p.Arg160Ter)
|
rs1255777033
|
0.00002
|
NM_000108.5(DLD):c.1439T>C (p.Ile480Thr)
|
rs140260331
|
0.00002
|
NM_000108.5(DLD):c.946C>T (p.Arg316Ter)
|
rs748682601
|
0.00002
|
NM_000151.4(G6PC1):c.14T>G (p.Met5Arg)
|
rs1250172816
|
0.00002
|
NM_000151.4(G6PC1):c.648G>T (p.Leu216=)
|
rs80356484
|
0.00002
|
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val)
|
rs80356483
|
0.00002
|
NM_000152.5(GAA):c.1076-22T>G
|
rs762260678
|
0.00002
|
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg)
|
rs772883420
|
0.00002
|
NM_000152.5(GAA):c.1634C>T (p.Pro545Leu)
|
rs121907942
|
0.00002
|
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys)
|
rs765362308
|
0.00002
|
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys)
|
rs991082382
|
0.00002
|
NM_000152.5(GAA):c.1798C>T (p.Arg600Cys)
|
rs764670084
|
0.00002
|
NM_000152.5(GAA):c.1831G>A (p.Gly611Ser)
|
rs1278340100
|
0.00002
|
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp)
|
rs757617999
|
0.00002
|
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg)
|
rs28937909
|
0.00002
|
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln)
|
rs778418246
|
0.00002
|
NM_000152.5(GAA):c.2407C>T (p.Gln803Ter)
|
rs1344266804
|
0.00002
|
NM_000152.5(GAA):c.317G>A (p.Arg106His)
|
rs772534106
|
0.00002
|
NM_000152.5(GAA):c.971C>T (p.Pro324Leu)
|
rs750030887
|
0.00002
|
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys)
|
rs111033744
|
0.00002
|
NM_000155.4(GALT):c.997C>G (p.Arg333Gly)
|
rs111033800
|
0.00002
|
NM_000158.4(GBE1):c.1468del (p.Leu490fs)
|
rs774465102
|
0.00002
|
NM_000158.4(GBE1):c.671T>C (p.Leu224Pro)
|
rs137852886
|
0.00002
|
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp)
|
rs774393243
|
0.00002
|
NM_000199.5(SGSH):c.1040C>T (p.Ser347Phe)
|
rs780239925
|
0.00002
|
NM_000199.5(SGSH):c.1167C>A (p.Asn389Lys)
|
rs764057581
|
0.00002
|
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg)
|
rs761607612
|
0.00002
|
NM_000199.5(SGSH):c.383C>T (p.Pro128Leu)
|
rs104894642
|
0.00002
|
NM_000203.5(IDUA):c.1349C>A (p.Pro450His)
|
rs895626490
|
0.00002
|
NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu)
|
rs751203469
|
0.00002
|
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys)
|
rs753520553
|
0.00002
|
NM_000293.3(PHKB):c.1894A>G (p.Asn632Asp)
|
rs530842640
|
0.00002
|
NM_000528.4(MAN2B1):c.1929-1G>T
|
rs763100457
|
0.00002
|
NM_000528.4(MAN2B1):c.2013del (p.Pro671_Val672insTer)
|
rs999923581
|
0.00002
|
NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter)
|
rs121434331
|
0.00002
|
NM_000528.4(MAN2B1):c.2867T>G (p.Leu956Arg)
|
rs768233248
|
0.00002
|
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter)
|
rs113994129
|
0.00002
|
NM_000642.3(AGL):c.3635T>C (p.Met1212Thr)
|
rs779439947
|
0.00002
|
NM_000925.4(PDHB):c.956A>T (p.Asp319Val)
|
rs199983136
|
0.00002
|
NM_001164277.2(SLC37A4):c.1099G>A (p.Ala367Thr)
|
rs80356492
|
0.00002
|
NM_001164277.2(SLC37A4):c.1179G>A (p.Trp393Ter)
|
rs902775927
|
0.00002
|
NM_001164277.2(SLC37A4):c.460del (p.Ile154fs)
|
rs769726248
|
0.00002
|
NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter)
|
rs781784543
|
0.00002
|
NM_001271838.2(RSRC1):c.196C>T (p.Arg66Cys)
|
rs772577036
|
0.00002
|
NM_001352514.2(HLCS):c.1529T>A (p.Val510Asp)
|
rs769499327
|
0.00002
|
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys)
|
rs781603756
|
0.00002
|
NM_001352514.2(HLCS):c.1985G>A (p.Ser662Asn)
|
rs773398782
|
0.00002
|
NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter)
|
rs772791252
|
0.00002
|
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn)
|
rs119103228
|
0.00002
|
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn)
|
rs397514367
|
0.00002
|
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr)
|
rs397514369
|
0.00002
|
NM_001807.6(CEL):c.1402G>A (p.Ala468Thr)
|
rs777913068
|
0.00002
|
NM_002103.5(GYS1):c.1303A>G (p.Thr435Ala)
|
rs775775270
|
0.00002
|
NM_002299.4(LCT):c.5723G>A (p.Arg1908His)
|
rs577825311
|
0.00002
|
NM_002863.5(PYGL):c.1768+1G>A
|
rs113993982
|
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_004830.4(MED23):c.2832dup (p.Val945fs)
|
rs771485728
|
0.00002
|
NM_005609.4(PYGM):c.1366G>A (p.Val456Met)
|
rs398124208
|
0.00002
|
NM_005609.4(PYGM):c.1768+2T>G
|
rs747513238
|
0.00002
|
NM_005609.4(PYGM):c.1804C>T (p.Arg602Trp)
|
rs750195683
|
0.00002
|
NM_005609.4(PYGM):c.1948C>T (p.Arg650Ter)
|
rs114073621
|
0.00002
|
NM_005609.4(PYGM):c.252C>G (p.Tyr84Ter)
|
rs1057517145
|
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_005908.4(MANBA):c.536A>G (p.Asn179Ser)
|
rs202004084
|
0.00002
|
NM_012203.2(GRHPR):c.735-1G>A
|
rs180177317
|
0.00002
|
NM_012434.5(SLC17A5):c.291G>A (p.Thr97=)
|
rs386833990
|
0.00002
|
NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer)
|
rs386833992
|
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_017721.5(CC2D1A):c.490C>T (p.Arg164Trp)
|
rs781491587
|
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_021956.5(GRIK2):c.2310G>T (p.Met770Ile)
|
rs745663188
|
0.00002
|
NM_021956.5(GRIK2):c.662G>A (p.Gly221Asp)
|
rs745990822
|
0.00002
|
NM_024298.5(MBOAT7):c.1126G>A (p.Glu376Lys)
|
rs758805684
|
0.00002
|
NM_024298.5(MBOAT7):c.854+8G>A
|
rs751520193
|
0.00002
|
NM_030805.4(LMAN2L):c.652G>A (p.Val218Ile)
|
rs753445500
|
0.00002
|
NM_031466.8(TRAPPC9):c.-249C>T
|
rs1446002001
|
0.00002
|
NM_138501.6(TECR):c.161C>G (p.Pro54Arg)
|
rs772297819
|
0.00002
|
NM_181503.3(EXOSC8):c.13T>C (p.Phe5Leu)
|
rs200881798
|
0.00002
|
NM_000027.4(AGA):c.395-8A>G
|
rs386833426
|
0.00001
|
NM_000027.4(AGA):c.508-2A>G
|
rs986682657
|
0.00001
|
NM_000027.4(AGA):c.770C>T (p.Thr257Ile)
|
rs386833434
|
0.00001
|
NM_000027.4(AGA):c.800dup (p.Pro268fs)
|
rs386833436
|
0.00001
|
NM_000030.3(AGXT):c.1079G>A (p.Arg360Gln)
|
rs180177161
|
0.00001
|
NM_000030.3(AGXT):c.107G>A (p.Arg36His)
|
rs180177162
|
0.00001
|
NM_000030.3(AGXT):c.1084G>A (p.Gly362Ser)
|
rs569643246
|
0.00001
|
NM_000030.3(AGXT):c.116_117dup (p.Ala40fs)
|
rs180177166
|
0.00001
|
NM_000030.3(AGXT):c.122G>T (p.Gly41Val)
|
rs180177168
|
0.00001
|
NM_000030.3(AGXT):c.215A>T (p.Asn72Ile)
|
rs113879010
|
0.00001
|
NM_000030.3(AGXT):c.2T>C (p.Met1Thr)
|
rs138584408
|
0.00001
|
NM_000030.3(AGXT):c.332G>A (p.Arg111Gln)
|
rs180177203
|
0.00001
|
NM_000030.3(AGXT):c.603C>A (p.Asp201Glu)
|
rs180177246
|
0.00001
|
NM_000030.3(AGXT):c.679_680+2del
|
rs180177255
|
0.00001
|
NM_000030.3(AGXT):c.777-1G>C
|
rs180177267
|
0.00001
|
NM_000030.3(AGXT):c.846+1G>T
|
rs180177281
|
0.00001
|
NM_000030.3(AGXT):c.976del (p.Val326fs)
|
rs180177301
|
0.00001
|
NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter)
|
rs370793608
|
0.00001
|
NM_000046.5(ARSB):c.1336+1G>A
|
rs376233975
|
0.00001
|
NM_000046.5(ARSB):c.1340G>C (p.Cys447Ser)
|
rs1465993279
|
0.00001
|
NM_000046.5(ARSB):c.1350G>C (p.Trp450Cys)
|
rs555785323
|
0.00001
|
NM_000046.5(ARSB):c.1366C>T (p.Gln456Ter)
|
rs200188234
|
0.00001
|
NM_000046.5(ARSB):c.1449A>T (p.Glu483Asp)
|
rs1064793027
|
0.00001
|
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg)
|
rs397514441
|
0.00001
|
NM_000046.5(ARSB):c.262C>T (p.Gln88Ter)
|
rs1299207831
|
0.00001
|
NM_000046.5(ARSB):c.349T>C (p.Cys117Arg)
|
rs118203939
|
0.00001
|
NM_000046.5(ARSB):c.430G>A (p.Gly144Arg)
|
rs746206847
|
0.00001
|
NM_000046.5(ARSB):c.499G>A (p.Gly167Arg)
|
rs1554087999
|
0.00001
|
NM_000046.5(ARSB):c.571C>T (p.Arg191Ter)
|
rs371886102
|
0.00001
|
NM_000046.5(ARSB):c.900T>A (p.Asp300Glu)
|
rs1280123243
|
0.00001
|
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln)
|
rs727503809
|
0.00001
|
NM_000108.5(DLD):c.104dup (p.Tyr35Ter)
|
rs753234219
|
0.00001
|
NM_000108.5(DLD):c.1463C>T (p.Pro488Leu)
|
rs121964988
|
0.00001
|
NM_000108.5(DLD):c.803_804del (p.Gln268fs)
|
rs764611160
|
0.00001
|
NM_000151.4(G6PC1):c.209G>A (p.Trp70Ter)
|
rs1567702823
|
0.00001
|
NM_000151.4(G6PC1):c.248G>A (p.Arg83His)
|
rs1801176
|
0.00001
|
NM_000151.4(G6PC1):c.370G>A (p.Ala124Thr)
|
rs104894568
|
0.00001
|
NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter)
|
rs80356485
|
0.00001
|
NM_000152.5(GAA):c.1064T>C (p.Leu355Pro)
|
rs766074609
|
0.00001
|
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu)
|
rs755253527
|
0.00001
|
NM_000152.5(GAA):c.1210G>A (p.Asp404Asn)
|
rs141533320
|
0.00001
|
NM_000152.5(GAA):c.1211A>G (p.Asp404Gly)
|
rs886042961
|
0.00001
|
NM_000152.5(GAA):c.1327-2A>G
|
rs1410829147
|
0.00001
|
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe)
|
rs886043148
|
0.00001
|
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs)
|
rs770276275
|
0.00001
|
NM_000152.5(GAA):c.1441del (p.Trp481fs)
|
rs1403500889
|
0.00001
|
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg)
|
rs770590394
|
0.00001
|
NM_000152.5(GAA):c.1556T>C (p.Met519Thr)
|
rs786204720
|
0.00001
|
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys)
|
rs121907937
|
0.00001
|
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser)
|
rs773576381
|
0.00001
|
NM_000152.5(GAA):c.1626C>G (p.Pro542=)
|
rs947585663
|
0.00001
|
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr)
|
rs753505203
|
0.00001
|
NM_000152.5(GAA):c.1799G>A (p.Arg600His)
|
rs377544304
|
0.00001
|
NM_000152.5(GAA):c.1802C>T (p.Ser601Leu)
|
rs374470794
|
0.00001
|
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp)
|
rs1393386120
|
0.00001
|
NM_000152.5(GAA):c.1822C>T (p.Arg608Ter)
|
rs749529161
|
0.00001
|
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter)
|
rs786204727
|
0.00001
|
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg)
|
rs549029029
|
0.00001
|
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn)
|
rs753269119
|
0.00001
|
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser)
|
rs536906561
|
0.00001
|
NM_000152.5(GAA):c.1943G>A (p.Gly648Asp)
|
rs1448515860
|
0.00001
|
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn)
|
rs763456921
|
0.00001
|
NM_000152.5(GAA):c.1962_1964del (p.Glu656del)
|
rs1030961946
|
0.00001
|
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp)
|
rs757111744
|
0.00001
|
NM_000152.5(GAA):c.2040+1G>T
|
rs1057516928
|
0.00001
|
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys)
|
rs786204645
|
0.00001
|
NM_000152.5(GAA):c.2174G>A (p.Arg725Gln)
|
rs577042191
|
0.00001
|
NM_000152.5(GAA):c.2331+2T>A
|
rs1057517148
|
0.00001
|
NM_000152.5(GAA):c.2482-2A>G
|
rs756671283
|
0.00001
|
NM_000152.5(GAA):c.2647-7G>A
|
rs192679574
|
0.00001
|
NM_000152.5(GAA):c.2662G>T (p.Glu888Ter)
|
rs765718882
|
0.00001
|
NM_000152.5(GAA):c.2706del (p.Lys903fs)
|
rs1428358278
|
0.00001
|
NM_000152.5(GAA):c.2846T>A (p.Val949Asp)
|
rs1245412108
|
0.00001
|
NM_000152.5(GAA):c.365del (p.Met122fs)
|
rs786204661
|
0.00001
|
NM_000152.5(GAA):c.670C>T (p.Arg224Trp)
|
rs757700700
|
0.00001
|
NM_000152.5(GAA):c.671G>A (p.Arg224Gln)
|
rs200210219
|
0.00001
|
NM_000152.5(GAA):c.692+5G>T
|
rs763027848
|
0.00001
|
NM_000152.5(GAA):c.743T>C (p.Leu248Pro)
|
rs1443844938
|
0.00001
|
NM_000152.5(GAA):c.871C>T (p.Leu291Phe)
|
rs773417785
|
0.00001
|
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys)
|
rs1057516600
|
0.00001
|
NM_000154.2(GALK1):c.520G>A (p.Glu174Lys)
|
rs1363497653
|
0.00001
|
NM_000154.2(GALK1):c.82C>A (p.Pro28Thr)
|
rs104894572
|
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_000155.4(GALT):c.1014C>G (p.Gly338=)
|
rs111033811
|
0.00001
|
NM_000155.4(GALT):c.1018G>A (p.Glu340Lys)
|
rs111033806
|
0.00001
|
NM_000155.4(GALT):c.1138T>C (p.Ter380Arg)
|
rs111033824
|
0.00001
|
NM_000155.4(GALT):c.142C>T (p.Arg48Cys)
|
rs886042088
|
0.00001
|
NM_000155.4(GALT):c.199C>T (p.Arg67Cys)
|
rs111033658
|
0.00001
|
NM_000155.4(GALT):c.252+1G>A
|
rs768154316
|
0.00001
|
NM_000155.4(GALT):c.2T>G (p.Met1Arg)
|
rs771702963
|
0.00001
|
NM_000155.4(GALT):c.307C>T (p.Gln103Ter)
|
rs1225091358
|
0.00001
|
NM_000155.4(GALT):c.329-2A>C
|
rs111033667
|
0.00001
|
NM_000155.4(GALT):c.367C>G (p.Arg123Gly)
|
rs111033674
|
0.00001
|
NM_000155.4(GALT):c.377+2dup
|
rs763662108
|
0.00001
|
NM_000155.4(GALT):c.379A>G (p.Lys127Glu)
|
rs111033682
|
0.00001
|
NM_000155.4(GALT):c.425T>A (p.Met142Lys)
|
rs111033695
|
0.00001
|
NM_000155.4(GALT):c.443G>A (p.Arg148Gln)
|
rs111033694
|
0.00001
|
NM_000155.4(GALT):c.601C>T (p.Arg201Cys)
|
rs111033739
|
0.00001
|
NM_000155.4(GALT):c.607G>A (p.Glu203Lys)
|
rs111033736
|
0.00001
|
NM_000155.4(GALT):c.610C>T (p.Arg204Ter)
|
rs111033737
|
0.00001
|
NM_000155.4(GALT):c.692G>A (p.Arg231His)
|
rs111033754
|
0.00001
|
NM_000155.4(GALT):c.772C>T (p.Arg258Cys)
|
rs368166217
|
0.00001
|
NM_000155.4(GALT):c.775C>T (p.Arg259Trp)
|
rs786204763
|
0.00001
|
NM_000155.4(GALT):c.814C>T (p.Arg272Cys)
|
rs111033766
|
0.00001
|
NM_000155.4(GALT):c.821-7A>G
|
rs767337193
|
0.00001
|
NM_000155.4(GALT):c.883C>A (p.Pro295Thr)
|
rs111033783
|
0.00001
|
NM_000155.4(GALT):c.938G>A (p.Trp313Ter)
|
rs1410159094
|
0.00001
|
NM_000155.4(GALT):c.947G>A (p.Trp316Ter)
|
rs111033790
|
0.00001
|
NM_000155.4(GALT):c.958G>A (p.Ala320Thr)
|
rs111033795
|
0.00001
|
NM_000155.4(GALT):c.961C>T (p.His321Tyr)
|
rs367543266
|
0.00001
|
NM_000155.4(GALT):c.974C>T (p.Pro325Leu)
|
rs111033794
|
0.00001
|
NM_000155.4(GALT):c.982C>T (p.Arg328Cys)
|
rs144993986
|
0.00001
|
NM_000155.4(GALT):c.983G>A (p.Arg328His)
|
rs111033802
|
0.00001
|
NM_000155.4(GALT):c.998G>A (p.Arg333Gln)
|
rs111033808
|
0.00001
|
NM_000158.4(GBE1):c.1064G>A (p.Arg355His)
|
rs869312919
|
0.00001
|
NM_000158.4(GBE1):c.1239del (p.Asp413fs)
|
rs758504480
|
0.00001
|
NM_000158.4(GBE1):c.1300C>T (p.Arg434Ter)
|
rs781198373
|
0.00001
|
NM_000158.4(GBE1):c.1604A>G (p.Tyr535Cys)
|
rs886058900
|
0.00001
|
NM_000158.4(GBE1):c.1621A>G (p.Asn541Asp)
|
rs1703086906
|
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.1803+2T>C
|
rs539203557
|
0.00001
|
NM_000158.4(GBE1):c.1823_1824del (p.His608fs)
|
rs1175447973
|
0.00001
|
NM_000158.4(GBE1):c.1883A>G (p.His628Arg)
|
rs137852891
|
0.00001
|
NM_000158.4(GBE1):c.1909C>T (p.Arg637Ter)
|
rs766935302
|
0.00001
|
NM_000158.4(GBE1):c.2052+2T>C
|
rs375596642
|
0.00001
|
NM_000158.4(GBE1):c.2081T>A (p.Ile694Asn)
|
rs1209123501
|
0.00001
|
NM_000158.4(GBE1):c.563A>C (p.His188Pro)
|
rs773558446
|
0.00001
|
NM_000158.4(GBE1):c.771T>A (p.Phe257Leu)
|
rs137852887
|
0.00001
|
NM_000158.4(GBE1):c.784C>T (p.Arg262Cys)
|
rs137852893
|
0.00001
|
NM_000158.4(GBE1):c.895G>T (p.Gly299Ter)
|
rs779475367
|
0.00001
|
NM_000158.4(GBE1):c.993-1G>T
|
rs763016962
|
0.00001
|
NM_000175.5(GPI):c.1498G>A (p.Val500Ile)
|
rs552424309
|
0.00001
|
NM_000175.5(GPI):c.640A>G (p.Thr214Ala)
|
rs536683131
|
0.00001
|
NM_000181.4(GUSB):c.1521G>A (p.Trp507Ter)
|
rs121918179
|
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.1093C>T (p.Gln365Ter)
|
rs1459579613
|
0.00001
|
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys)
|
rs104894640
|
0.00001
|
NM_000199.5(SGSH):c.1135del (p.Val379fs)
|
rs777956287
|
0.00001
|
NM_000199.5(SGSH):c.1138C>T (p.Gln380Ter)
|
rs1424242431
|
0.00001
|
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser)
|
rs1555620214
|
0.00001
|
NM_000199.5(SGSH):c.1225C>T (p.Gln409Ter)
|
rs1323958195
|
0.00001
|
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln)
|
rs104894641
|
0.00001
|
NM_000199.5(SGSH):c.130G>A (p.Ala44Thr)
|
rs1057521146
|
0.00001
|
NM_000199.5(SGSH):c.268G>A (p.Gly90Arg)
|
rs774010006
|
0.00001
|
NM_000199.5(SGSH):c.416C>T (p.Thr139Met)
|
rs775112689
|
0.00001
|
NM_000199.5(SGSH):c.448C>T (p.Arg150Trp)
|
rs1479831530
|
0.00001
|
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln)
|
rs104894638
|
0.00001
|
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys)
|
rs529855742
|
0.00001
|
NM_000199.5(SGSH):c.545G>A (p.Arg182His)
|
rs372911015
|
0.00001
|
NM_000199.5(SGSH):c.571G>A (p.Gly191Arg)
|
rs753666460
|
0.00001
|
NM_000199.5(SGSH):c.582T>A (p.Cys194Ter)
|
rs1555621659
|
0.00001
|
NM_000199.5(SGSH):c.629G>A (p.Trp210Ter)
|
rs886041370
|
0.00001
|
NM_000199.5(SGSH):c.812C>T (p.Thr271Met)
|
rs746776254
|
0.00001
|
NM_000199.5(SGSH):c.911G>T (p.Arg304Leu)
|
rs745884647
|
0.00001
|
NM_000263.4(NAGLU):c.608G>A (p.Arg203Gln)
|
rs904118831
|
0.00001
|
NM_000284.4(PDHA1):c.292-23A>G
|
rs1057518702
|
0.00001
|
NM_000284.4(PDHA1):c.972G>A (p.Met324Ile)
|
rs755945768
|
0.00001
|
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln)
|
rs187131358
|
0.00001
|
NM_000289.6(PFKM):c.1191+1G>A
|
rs746348793
|
0.00001
|
NM_000289.6(PFKM):c.1294C>T (p.Arg432Ter)
|
rs41291965
|
0.00001
|
NM_000289.6(PFKM):c.1413-2A>G
|
rs1430517061
|
0.00001
|
NM_000289.6(PFKM):c.1500+1G>A
|
rs770066278
|
0.00001
|
NM_000289.6(PFKM):c.289G>A (p.Gly97Arg)
|
rs768553877
|
0.00001
|
NM_000289.6(PFKM):c.292C>T (p.Arg98Ter)
|
rs138893744
|
0.00001
|
NM_000343.4(SLC5A1):c.1673G>A (p.Arg558His)
|
rs201799893
|
0.00001
|
NM_000352.6(ABCC8):c.3158G>A (p.Ser1053Asn)
|
rs767123465
|
0.00001
|
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr)
|
rs76645461
|
0.00001
|
NM_000528.4(MAN2B1):c.1117A>T (p.Lys373Ter)
|
rs778554304
|
0.00001
|
NM_000528.4(MAN2B1):c.1259G>T (p.Gly420Val)
|
rs772853856
|
0.00001
|
NM_000528.4(MAN2B1):c.1351G>T (p.Gly451Cys)
|
rs368899357
|
0.00001
|
NM_000528.4(MAN2B1):c.1528-1G>A
|
rs561991886
|
0.00001
|
NM_000528.4(MAN2B1):c.1645-1G>A
|
rs938576591
|
0.00001
|
NM_000528.4(MAN2B1):c.1687G>T (p.Glu563Ter)
|
rs1057516927
|
0.00001
|
NM_000528.4(MAN2B1):c.222C>A (p.Asp74Glu)
|
rs746702002
|
0.00001
|
NM_000528.4(MAN2B1):c.2267+1G>A
|
rs1022927322
|
0.00001
|
NM_000528.4(MAN2B1):c.2436+2T>C
|
rs398123457
|
0.00001
|
NM_000528.4(MAN2B1):c.2820+1G>A
|
rs768734132
|
0.00001
|
NM_000528.4(MAN2B1):c.422del (p.Asp141fs)
|
rs778399351
|
0.00001
|
NM_000528.4(MAN2B1):c.562C>T (p.Arg188Ter)
|
rs1429239930
|
0.00001
|
NM_000528.4(MAN2B1):c.598C>A (p.His200Asn)
|
rs772108001
|
0.00001
|
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp)
|
rs763257568
|
0.00001
|
NM_000528.4(MAN2B1):c.788C>T (p.Pro263Leu)
|
rs746808159
|
0.00001
|
NM_000528.4(MAN2B1):c.856G>A (p.Glu286Lys)
|
rs772562587
|
0.00001
|
NM_000642.3(AGL):c.100C>T (p.Arg34Ter)
|
rs781580050
|
0.00001
|
NM_000642.3(AGL):c.1078C>T (p.His360Tyr)
|
rs763554006
|
0.00001
|
NM_000642.3(AGL):c.1222C>T (p.Arg408Ter)
|
rs113994128
|
0.00001
|
NM_000642.3(AGL):c.1571G>A (p.Arg524His)
|
rs758182700
|
0.00001
|
NM_000642.3(AGL):c.1735+1G>T
|
rs199922945
|
0.00001
|
NM_000642.3(AGL):c.1783C>T (p.Arg595Ter)
|
rs765367405
|
0.00001
|
NM_000642.3(AGL):c.2023C>T (p.Arg675Trp)
|
rs765749454
|
0.00001
|
NM_000642.3(AGL):c.22C>T (p.Arg8Ter)
|
rs1057516870
|
0.00001
|
NM_000642.3(AGL):c.2309-1G>A
|
rs786204481
|
0.00001
|
NM_000642.3(AGL):c.2723T>G (p.Leu908Arg)
|
rs772347559
|
0.00001
|
NM_000642.3(AGL):c.2728C>T (p.Arg910Ter)
|
rs773095419
|
0.00001
|
NM_000642.3(AGL):c.276del (p.Gln92fs)
|
rs1057517243
|
0.00001
|
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter)
|
rs531425980
|
0.00001
|
NM_000642.3(AGL):c.3350dup (p.Tyr1117Ter)
|
rs1432024176
|
0.00001
|
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter)
|
rs113994131
|
0.00001
|
NM_000642.3(AGL):c.3836+1G>A
|
rs780883601
|
0.00001
|
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys)
|
rs775685508
|
0.00001
|
NM_000642.3(AGL):c.595C>T (p.Gln199Ter)
|
rs780694207
|
0.00001
|
NM_000642.3(AGL):c.664+3A>G
|
rs370792293
|
0.00001
|
NM_000642.3(AGL):c.685C>T (p.Gln229Ter)
|
rs971749992
|
0.00001
|
NM_000642.3(AGL):c.853C>T (p.Arg285Ter)
|
rs755747010
|
0.00001
|
NM_000642.3(AGL):c.907C>T (p.Gln303Ter)
|
rs145362161
|
0.00001
|
NM_000642.3(AGL):c.94C>T (p.Gln32Ter)
|
rs786204489
|
0.00001
|
NM_001008216.2(GALE):c.449C>T (p.Thr150Met)
|
rs765353795
|
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.1-4C>A
|
rs1313846853
|
0.00001
|
NM_001040716.2(PC):c.633+2T>C
|
rs763433647
|
0.00001
|
NM_001040716.2(PC):c.806G>A (p.Arg269Gln)
|
rs1349343839
|
0.00001
|
NM_001064.4(TKT):c.1540G>A (p.Glu514Lys)
|
rs762983878
|
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.2854G>T (p.Glu952Ter)
|
rs766614772
|
0.00001
|
NM_001164277.2(SLC37A4):c.1124+1G>T
|
rs782630676
|
0.00001
|
NM_001164277.2(SLC37A4):c.287G>A (p.Trp96Ter)
|
rs121908976
|
0.00001
|
NM_001164277.2(SLC37A4):c.352T>C (p.Trp118Arg)
|
rs80356489
|
0.00001
|
NM_001164277.2(SLC37A4):c.381+2T>G
|
rs782645078
|
0.00001
|
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg)
|
rs193302883
|
0.00001
|
NM_001164277.2(SLC37A4):c.458C>T (p.Pro153Leu)
|
rs193302890
|
0.00001
|
NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp)
|
rs193302881
|
0.00001
|
NM_001164277.2(SLC37A4):c.652C>T (p.Gln218Ter)
|
rs551439289
|
0.00001
|
NM_001164277.2(SLC37A4):c.82C>T (p.Arg28Cys)
|
rs193302882
|
0.00001
|
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His)
|
rs121908978
|
0.00001
|
NM_001164277.2(SLC37A4):c.898C>T (p.Arg300Cys)
|
rs193302880
|
0.00001
|
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg)
|
rs28934602
|
0.00001
|
NM_001352514.2(HLCS):c.1096dup (p.Ile366fs)
|
rs773102942
|
0.00001
|
NM_001352514.2(HLCS):c.1621-2A>G
|
rs750728042
|
0.00001
|
NM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser)
|
rs119103230
|
0.00001
|
NM_001352514.2(HLCS):c.2451-1G>A
|
rs1158898827
|
0.00001
|
NM_001352514.2(HLCS):c.2567C>T (p.Pro856Leu)
|
rs1260631800
|
0.00001
|
NM_001370658.1(BTD):c.-17+2T>C
|
rs745648160
|
0.00001
|
NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser)
|
rs397514410
|
0.00001
|
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg)
|
rs397514412
|
0.00001
|
NM_001370658.1(BTD):c.124G>A (p.Val42Met)
|
rs397507170
|
0.00001
|
NM_001370658.1(BTD):c.1274G>T (p.Gly425Val)
|
rs397514402
|
0.00001
|
NM_001370658.1(BTD):c.1324del (p.Arg442fs)
|
rs397514420
|
0.00001
|
NM_001370658.1(BTD):c.1543C>G (p.Leu515Val)
|
rs771537277
|
0.00001
|
NM_001370658.1(BTD):c.1553G>A (p.Arg518His)
|
rs397514429
|
0.00001
|
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys)
|
rs104893687
|
0.00001
|
NM_001370658.1(BTD):c.176G>A (p.Arg59His)
|
rs397514343
|
0.00001
|
NM_001370658.1(BTD):c.197T>G (p.Met66Arg)
|
rs587783002
|
0.00001
|
NM_001370658.1(BTD):c.250-15del
|
rs587783008
|
0.00001
|
NM_001370658.1(BTD):c.281G>T (p.Gly94Val)
|
rs375712490
|
0.00001
|
NM_001370658.1(BTD):c.320C>T (p.Pro107Leu)
|
rs575787457
|
0.00001
|
NM_001370658.1(BTD):c.360G>A (p.Trp120Ter)
|
rs1306944669
|
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.571C>T (p.Arg191Cys)
|
rs372844636
|
0.00001
|
NM_001370658.1(BTD):c.572G>A (p.Arg191His)
|
rs112195009
|
0.00001
|
NM_001370658.1(BTD):c.583C>T (p.Leu195Phe)
|
rs190386869
|
0.00001
|
NM_001370658.1(BTD):c.649G>A (p.Ala217Thr)
|
rs397514381
|
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_001370658.1(BTD):c.704T>C (p.Ile235Thr)
|
rs397514384
|
0.00001
|
NM_001370658.1(BTD):c.754T>G (p.Trp252Gly)
|
rs397514387
|
0.00001
|
NM_001370658.1(BTD):c.941_942del (p.Ile314fs)
|
rs749162799
|
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_001715.3(BLK):c.677A>C (p.Gln226Pro)
|
rs551088779
|
0.00001
|
NM_002076.4(GNS):c.531G>T (p.Lys177Asn)
|
rs1435047831
|
0.00001
|
NM_002076.4(GNS):c.980A>G (p.Asn327Ser)
|
rs778927646
|
0.00001
|
NM_002103.5(GYS1):c.1184C>T (p.Thr395Met)
|
rs748765779
|
0.00001
|
NM_002103.5(GYS1):c.314G>A (p.Arg105His)
|
rs775388088
|
0.00001
|
NM_002637.4(PHKA1):c.1384G>A (p.Val462Met)
|
rs782400389
|
0.00001
|
NM_002863.5(PYGL):c.298A>G (p.Met100Val)
|
rs1273055538
|
0.00001
|
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln)
|
rs773138218
|
0.00001
|
NM_003805.5(CRADD):c.-2A>G
|
rs1431834925
|
0.00001
|
NM_003805.5(CRADD):c.-6-7T>C
|
rs756888040
|
0.00001
|
NM_004830.4(MED23):c.3980T>G (p.Leu1327Arg)
|
rs751590798
|
0.00001
|
NM_005536.4(IMPA1):c.613A>G (p.Thr205Ala)
|
rs149824165
|
0.00001
|
NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys)
|
rs757681143
|
0.00001
|
NM_005609.4(PYGM):c.1193C>T (p.Pro398Leu)
|
rs773204705
|
0.00001
|
NM_005609.4(PYGM):c.1239+1G>A
|
rs759657964
|
0.00001
|
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu)
|
rs756251887
|
0.00001
|
NM_005609.4(PYGM):c.1353dup (p.Ala452fs)
|
rs779562449
|
0.00001
|
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp)
|
rs377225525
|
0.00001
|
NM_005609.4(PYGM):c.1709G>A (p.Arg570Gln)
|
rs143550601
|
0.00001
|
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter)
|
rs119103255
|
0.00001
|
NM_005609.4(PYGM):c.1827G>A (p.Lys609=)
|
rs119103259
|
0.00001
|
NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys)
|
rs119103253
|
0.00001
|
NM_005609.4(PYGM):c.2111C>T (p.Ala704Val)
|
rs1483102315
|
0.00001
|
NM_005609.4(PYGM):c.2385_2386del (p.Glu797fs)
|
rs750080547
|
0.00001
|
NM_005609.4(PYGM):c.280C>T (p.Arg94Trp)
|
rs370247862
|
0.00001
|
NM_005609.4(PYGM):c.549G>A (p.Trp183Ter)
|
rs1223885403
|
0.00001
|
NM_005609.4(PYGM):c.661-601G>A
|
rs1474863903
|
0.00001
|
NM_005609.4(PYGM):c.78_79del (p.Glu27fs)
|
rs755117847
|
0.00001
|
NM_005645.4(TAF13):c.122A>G (p.Tyr41Cys)
|
rs773661572
|
0.00001
|
NM_005908.4(MANBA):c.1382C>T (p.Ala461Val)
|
rs775701916
|
0.00001
|
NM_006618.5(KDM5B):c.3592G>A (p.Ala1198Thr)
|
rs549414130
|
0.00001
|
NM_006618.5(KDM5B):c.895C>T (p.Arg299Ter)
|
rs1558498928
|
0.00001
|
NM_006755.2(TALDO1):c.293A>T (p.Lys98Met)
|
rs758756190
|
0.00001
|
NM_006755.2(TALDO1):c.574C>T (p.Arg192Cys)
|
rs751425603
|
0.00001
|
NM_006765.4(TUSC3):c.308+3A>G
|
rs778993933
|
0.00001
|
NM_012203.2(GRHPR):c.295C>T (p.Arg99Ter)
|
rs119490108
|
0.00001
|
NM_012203.2(GRHPR):c.337G>A (p.Glu113Lys)
|
rs180177307
|
0.00001
|
NM_012203.2(GRHPR):c.404+5G>A
|
rs757796926
|
0.00001
|
NM_012203.2(GRHPR):c.454dup (p.Thr152fs)
|
rs771019056
|
0.00001
|
NM_012203.2(GRHPR):c.478G>A (p.Gly160Arg)
|
rs180177312
|
0.00001
|
NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp)
|
rs180177314
|
0.00001
|
NM_012203.2(GRHPR):c.904C>T (p.Arg302Cys)
|
rs180177322
|
0.00001
|
NM_012203.2(GRHPR):c.958G>T (p.Glu320Ter)
|
rs1331106064
|
0.00001
|
NM_012434.5(SLC17A5):c.1016G>A (p.Trp339Ter)
|
rs1057516910
|
0.00001
|
NM_012434.5(SLC17A5):c.1111+1G>A
|
rs777862172
|
0.00001
|
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His)
|
rs769235753
|
0.00001
|
NM_012434.5(SLC17A5):c.1259+1G>A
|
rs146095590
|
0.00001
|
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs)
|
rs1234745577
|
0.00001
|
NM_012434.5(SLC17A5):c.667dup (p.Tyr223fs)
|
rs1472109408
|
0.00001
|
NM_014026.6(DCPS):c.201+4C>G
|
rs746334180
|
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.2959T>G (p.Ser987Ala)
|
rs145303576
|
0.00001
|
NM_014806.5(RUSC2):c.3044G>A (p.Arg1015Gln)
|
rs1041188721
|
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_016219.5(MAN1B1):c.1042G>T (p.Asp348Tyr)
|
rs184782012
|
0.00001
|
NM_016219.5(MAN1B1):c.1428C>T (p.Gly476=)
|
rs751469511
|
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_016302.4(CRBN):c.433C>T (p.Arg145Ter)
|
rs1302797003
|
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_018255.4(ELP2):c.2236T>C (p.Cys746Arg)
|
rs1414536488
|
0.00001
|
NM_018255.4(ELP2):c.918A>T (p.Arg306Ser)
|
rs1389450136
|
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_021956.5(GRIK2):c.1073G>T (p.Arg358Leu)
|
rs560817419
|
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.1663C>T (p.Gln555Ter)
|
rs755341613
|
0.00001
|
NM_024989.4(PGAP1):c.2357_2358insTA (p.Arg786fs)
|
rs767774867
|
0.00001
|
GRCh37/hg19 Xq13.2(chrX:71801020-71804146)
|
|
|
NM_000027.4(AGA):c.101_107del (p.Trp34fs)
|
rs759063638
|
|
NM_000027.4(AGA):c.10A>T (p.Lys4Ter)
|
|
|
NM_000027.4(AGA):c.127+1G>A
|
rs1057516565
|
|
NM_000027.4(AGA):c.128-2A>C
|
|
|
NM_000027.4(AGA):c.128-2A>G
|
rs2111022003
|
|
NM_000027.4(AGA):c.179G>A (p.Gly60Asp)
|
rs121964907
|
|
NM_000027.4(AGA):c.192del (p.Cys64fs)
|
rs1553994830
|
|
NM_000027.4(AGA):c.198_201del (p.Arg66fs)
|
|
|
NM_000027.4(AGA):c.200_201del (p.Glu67fs)
|
rs386833420
|
|
NM_000027.4(AGA):c.200_201dup (p.Gln68fs)
|
|
|
NM_000027.4(AGA):c.282-2A>G
|
|
|
NM_000027.4(AGA):c.299G>A (p.Gly100Glu)
|
rs386833421
|
|
NM_000027.4(AGA):c.302C>T (p.Ala101Val)
|
rs121964908
|
|
NM_000027.4(AGA):c.325A>T (p.Lys109Ter)
|
|
|
NM_000027.4(AGA):c.329del (p.Asn110fs)
|
rs764357395
|
|
NM_000027.4(AGA):c.333del (p.Ile112fs)
|
rs1057517223
|
|
NM_000027.4(AGA):c.346C>T (p.Arg116Trp)
|
rs386833423
|
|
NM_000027.4(AGA):c.365C>A (p.Thr122Lys)
|
rs771563230
|
|
NM_000027.4(AGA):c.367_371del (p.Thr123fs)
|
rs1736928101
|
|
NM_000027.4(AGA):c.375_376del (p.Leu126fs)
|
rs386833425
|
|
NM_000027.4(AGA):c.375_378del (p.Thr125_Leu126insTer)
|
|
|
NM_000027.4(AGA):c.376del (p.Leu126fs)
|
rs1553994755
|
|
NM_000027.4(AGA):c.389_390del (p.Glu130fs)
|
|
|
NM_000027.4(AGA):c.507+1G>C
|
|
|
NM_000027.4(AGA):c.537C>A (p.Cys179Ter)
|
rs748171793
|
|
NM_000027.4(AGA):c.552del (p.Pro185fs)
|
|
|
NM_000027.4(AGA):c.595G>T (p.Glu199Ter)
|
rs370078048
|
|
NM_000027.4(AGA):c.595_596del (p.Glu199fs)
|
|
|
NM_000027.4(AGA):c.698+1G>T
|
rs1057517175
|
|
NM_000027.4(AGA):c.735dup (p.Tyr246fs)
|
|
|
NM_000027.4(AGA):c.755G>A (p.Gly252Glu)
|
rs386833433
|
|
NM_000027.4(AGA):c.916T>C (p.Cys306Arg)
|
rs121964906
|
|
NM_000027.4(AGA):c.941-1G>T
|
|
|
NM_000030.3(AGXT):c.1014C>A (p.Tyr338Ter)
|
|
|
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp)
|
rs180177156
|
|
NM_000030.3(AGXT):c.1072-1G>A
|
|
|
NM_000030.3(AGXT):c.1161C>A (p.Cys387Ter)
|
|
|
NM_000030.3(AGXT):c.121G>C (p.Gly41Arg)
|
|
|
NM_000030.3(AGXT):c.126del (p.Leu43fs)
|
rs180177171
|
|
NM_000030.3(AGXT):c.244G>C (p.Gly82Arg)
|
rs180177185
|
|
NM_000030.3(AGXT):c.268dup (p.Leu90fs)
|
|
|
NM_000030.3(AGXT):c.283G>T (p.Glu95Ter)
|
|
|
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro)
|
rs180177195
|
|
NM_000030.3(AGXT):c.322T>C (p.Trp108Arg)
|
rs180177197
|
|
NM_000030.3(AGXT):c.327del (p.Gln110fs)
|
rs180177200
|
|
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg)
|
rs34116584
|
|
NM_000030.3(AGXT):c.331C>T (p.Arg111Ter)
|
rs180177202
|
|
NM_000030.3(AGXT):c.33del (p.Lys12fs)
|
rs180177201
|
|
NM_000030.3(AGXT):c.33dup (p.Lys12fs)
|
rs180177201
|
|
NM_000030.3(AGXT):c.374_381del (p.Pro125fs)
|
rs2058986184
|
|
NM_000030.3(AGXT):c.423+1G>A
|
rs1553648493
|
|
NM_000030.3(AGXT):c.433del (p.Gln145fs)
|
|
|
NM_000030.3(AGXT):c.447_454del (p.Leu151fs)
|
rs180177221
|
|
NM_000030.3(AGXT):c.473C>T (p.Ser158Leu)
|
rs180177225
|
|
NM_000030.3(AGXT):c.481G>A (p.Gly161Ser)
|
rs180177227
|
|
NM_000030.3(AGXT):c.490C>T (p.Gln164Ter)
|
|
|
NM_000030.3(AGXT):c.517T>C (p.Cys173Arg)
|
rs2106428650
|
|
NM_000030.3(AGXT):c.524+2T>A
|
rs1553648568
|
|
NM_000030.3(AGXT):c.525-2A>T
|
|
|
NM_000030.3(AGXT):c.533G>A (p.Cys178Tyr)
|
rs180177235
|
|
NM_000030.3(AGXT):c.570del (p.Thr191fs)
|
rs180177240
|
|
NM_000030.3(AGXT):c.577del (p.Leu193fs)
|
rs180177241
|
|
NM_000030.3(AGXT):c.577dup (p.Leu193fs)
|
rs180177241
|
|
NM_000030.3(AGXT):c.614C>T (p.Ser205Leu)
|
rs180177248
|
|
NM_000030.3(AGXT):c.662_664del (p.Ser221del)
|
rs796052071
|
|
NM_000030.3(AGXT):c.737G>A (p.Trp246Ter)
|
rs180177259
|
|
NM_000030.3(AGXT):c.751_752delinsAA (p.Trp251Lys)
|
rs796052072
|
|
NM_000030.3(AGXT):c.757T>C (p.Cys253Arg)
|
rs180177264
|
|
NM_000030.3(AGXT):c.807dup (p.Tyr270fs)
|
|
|
NM_000030.3(AGXT):c.823_824dup (p.Ser275fs)
|
rs180177273
|
|
NM_000030.3(AGXT):c.846+1G>A
|
rs180177281
|
|
NM_000030.3(AGXT):c.847-1G>C
|
rs180177285
|
|
NM_000030.3(AGXT):c.848del
|
|
|
NM_000030.3(AGXT):c.983_988del (p.Ala328_Tyr330delinsAsp)
|
rs180177302
|
|
NM_000035.4(ALDOB):c.1000-1_1006delinsTG
|
rs2118333206
|
|
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys)
|
rs78340951
|
|
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter)
|
rs118204428
|
|
NM_000035.4(ALDOB):c.113-1G>C
|
rs748663340
|
|
NM_000035.4(ALDOB):c.113-1_115del
|
rs786204598
|
|
NM_000035.4(ALDOB):c.302del (p.Lys101fs)
|
rs974582114
|
|
NM_000035.4(ALDOB):c.324+1G>A
|
rs764826805
|
|
NM_000035.4(ALDOB):c.324+2T>A
|
rs1057516379
|
|
NM_000035.4(ALDOB):c.331C>T (p.Gln111Ter)
|
rs528914024
|
|
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs)
|
rs387906225
|
|
NM_000035.4(ALDOB):c.379+1G>A
|
rs138121153
|
|
NM_000035.4(ALDOB):c.43del (p.Glu15fs)
|
rs1831209087
|
|
NM_000035.4(ALDOB):c.444G>A (p.Trp148Ter)
|
rs1057516902
|
|
NM_000035.4(ALDOB):c.469C>T (p.Gln157Ter)
|
rs1831149748
|
|
NM_000035.4(ALDOB):c.538C>T (p.Gln180Ter)
|
|
|
NM_000035.4(ALDOB):c.541-277_651delinsATGGGTT
|
|
|
NM_000035.4(ALDOB):c.541-2A>G
|
|
|
NM_000035.4(ALDOB):c.606C>A (p.Cys202Ter)
|
|
|
NM_000035.4(ALDOB):c.612T>G (p.Tyr204Ter)
|
rs370793608
|
|
NM_000035.4(ALDOB):c.61C>T (p.Gln21Ter)
|
rs2118366288
|
|
NM_000035.4(ALDOB):c.624+1G>A
|
|
|
NM_000035.4(ALDOB):c.625-2A>G
|
rs786204503
|
|
NM_000035.4(ALDOB):c.673del (p.Glu225fs)
|
rs758133069
|
|
NM_000035.4(ALDOB):c.742C>T (p.Gln248Ter)
|
|
|
NM_000035.4(ALDOB):c.799+2T>C
|
|
|
NM_000035.4(ALDOB):c.800-2A>G
|
|
|
NM_000035.4(ALDOB):c.865del (p.Leu289fs)
|
rs864309533
|
|
NM_000046.5(ARSB):c.1060_1061del (p.Leu354fs)
|
|
|
NM_000046.5(ARSB):c.1088del (p.Gly363fs)
|
|
|
NM_000046.5(ARSB):c.108_120del (p.Ser37fs)
|
rs1028653411
|
|
NM_000046.5(ARSB):c.113del (p.Gly38fs)
|
rs1349838988
|
|
NM_000046.5(ARSB):c.1142+1G>T
|
rs746396210
|
|
NM_000046.5(ARSB):c.1143-1G>A
|
|
|
NM_000046.5(ARSB):c.1178A>G (p.His393Arg)
|
rs118203944
|
|
NM_000046.5(ARSB):c.1197C>G (p.Phe399Leu)
|
rs200793396
|
|
NM_000046.5(ARSB):c.1214-2A>T
|
rs1554069808
|
|
NM_000046.5(ARSB):c.123_139dup (p.Leu47fs)
|
rs766772376
|
|
NM_000046.5(ARSB):c.1299dup (p.Arg434Ter)
|
rs1355071930
|
|
NM_000046.5(ARSB):c.1314G>A (p.Trp438Ter)
|
|
|
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met)
|
rs1057520739
|
|
NM_000046.5(ARSB):c.1337-1G>C
|
|
|
NM_000046.5(ARSB):c.1493T>C (p.Leu498Pro)
|
rs774358117
|
|
NM_000046.5(ARSB):c.1534_1556del (p.Val512fs)
|
rs1310996698
|
|
NM_000046.5(ARSB):c.1539C>A (p.Tyr513Ter)
|
|
|
NM_000046.5(ARSB):c.1558dup (p.Arg520fs)
|
|
|
NM_000046.5(ARSB):c.157G>A (p.Asp53Asn)
|
rs1554032217
|
|
NM_000046.5(ARSB):c.173del (p.Asn58fs)
|
rs1180759765
|
|
NM_000046.5(ARSB):c.237_243del (p.Val80fs)
|
rs1554032134
|
|
NM_000046.5(ARSB):c.245T>G (p.Leu82Arg)
|
rs749465732
|
|
NM_000046.5(ARSB):c.275C>A (p.Thr92Lys)
|
rs751010538
|
|
NM_000046.5(ARSB):c.312+2T>G
|
|
|
NM_000046.5(ARSB):c.323G>T (p.Gly108Val)
|
rs768802200
|
|
NM_000046.5(ARSB):c.427del (p.Val143fs)
|
rs766914147
|
|
NM_000046.5(ARSB):c.438G>A (p.Trp146Ter)
|
rs757061042
|
|
NM_000046.5(ARSB):c.479G>A (p.Arg160Gln)
|
rs1196325597
|
|
NM_000046.5(ARSB):c.589C>T (p.Arg197Ter)
|
rs773460207
|
|
NM_000046.5(ARSB):c.659del (p.Ile220fs)
|
|
|
NM_000046.5(ARSB):c.690+2T>C
|
|
|
NM_000046.5(ARSB):c.694_695del (p.Leu232fs)
|
|
|
NM_000046.5(ARSB):c.743del (p.Pro248fs)
|
rs431905494
|
|
NM_000046.5(ARSB):c.753C>G (p.Tyr251Ter)
|
rs765711776
|
|
NM_000046.5(ARSB):c.785dup (p.Asn262fs)
|
rs749015246
|
|
NM_000046.5(ARSB):c.789del (p.Arg263fs)
|
|
|
NM_000046.5(ARSB):c.797A>C (p.Tyr266Ser)
|
rs1554086402
|
|
NM_000046.5(ARSB):c.898+1G>A
|
rs1751669303
|
|
NM_000046.5(ARSB):c.898+1G>T
|
|
|
NM_000046.5(ARSB):c.904G>A (p.Gly302Arg)
|
rs779378413
|
|
NM_000046.5(ARSB):c.908G>A (p.Gly303Glu)
|
rs1408739927
|
|
NM_000046.5(ARSB):c.936G>T (p.Trp312Cys)
|
rs759384989
|
|
NM_000046.5(ARSB):c.943C>T (p.Arg315Ter)
|
rs891298440
|
|
NM_000046.5(ARSB):c.979C>T (p.Arg327Ter)
|
rs773492223
|
|
NM_000046.5(ARSB):c.982G>A (p.Gly328Arg)
|
|
|
NM_000108.5(DLD):c.1016del (p.Val339fs)
|
|
|
NM_000108.5(DLD):c.1047-1G>A
|
|
|
NM_000108.5(DLD):c.1058T>C (p.Ile353Thr)
|
rs2116271469
|
|
NM_000108.5(DLD):c.105C>G (p.Tyr35Ter)
|
rs747810875
|
|
NM_000108.5(DLD):c.105del (p.Thr34_Tyr35insTer)
|
rs1554396895
|
|
NM_000108.5(DLD):c.1080_1086dup (p.Ala363fs)
|
|
|
NM_000108.5(DLD):c.1185dup (p.His396fs)
|
|
|
NM_000108.5(DLD):c.119-1G>T
|
|
|
NM_000108.5(DLD):c.1214C>A (p.Ser405Ter)
|
|
|
NM_000108.5(DLD):c.1214C>G (p.Ser405Ter)
|
|
|
NM_000108.5(DLD):c.1219G>T (p.Glu407Ter)
|
|
|
NM_000108.5(DLD):c.1233dup (p.Glu412fs)
|
|
|
NM_000108.5(DLD):c.13A>G (p.Ser5Gly)
|
|
|
NM_000108.5(DLD):c.1416_1422del (p.Tyr473fs)
|
rs1214130226
|
|
NM_000108.5(DLD):c.1471T>C (p.Ser491Pro)
|
rs2032348536
|
|
NM_000108.5(DLD):c.1483A>G (p.Arg495Gly)
|
rs121964989
|
|
NM_000108.5(DLD):c.184C>T (p.Gln62Ter)
|
|
|
NM_000108.5(DLD):c.199-1G>A
|
rs1554398264
|
|
NM_000108.5(DLD):c.217A>C (p.Asn73His)
|
rs796051949
|
|
NM_000108.5(DLD):c.225_226del (p.Leu76fs)
|
|
|
NM_000108.5(DLD):c.40-2A>G
|
|
|
NM_000108.5(DLD):c.583-1G>C
|
rs2032004082
|
|
NM_000108.5(DLD):c.632_633del (p.Lys211fs)
|
|
|
NM_000108.5(DLD):c.656T>C (p.Ile219Thr)
|
rs2032006962
|
|
NM_000108.5(DLD):c.737del (p.Gly246fs)
|
|
|
NM_000108.5(DLD):c.821dup (p.Leu274fs)
|
rs751883130
|
|
NM_000108.5(DLD):c.82dup (p.Ser28fs)
|
|
|
NM_000108.5(DLD):c.856_857del (p.Asp286fs)
|
|
|
NM_000108.5(DLD):c.943C>T (p.Arg315Ter)
|
|
|
NM_000151.4(G6PC1):c.241G>A (p.Gly81Arg)
|
rs756632286
|
|
NM_000151.4(G6PC1):c.379_380dup (p.Tyr128fs)
|
rs80356488
|
|
NM_000151.4(G6PC1):c.538C>T (p.Gln180Ter)
|
rs1597990921
|
|
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser)
|
rs80356482
|
|
NM_000151.4(G6PC1):c.59A>G (p.Gln20Arg)
|
rs2056021410
|
|
NM_000151.4(G6PC1):c.792C>G (p.Asn264Lys)
|
rs1555560149
|
|
NM_000151.4(G6PC1):c.79del (p.Gln27fs)
|
rs80356479
|
|
NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter)
|
rs780226142
|
|
NM_000152.5(GAA):c.1000G>A (p.Gly334Ser)
|
rs886042960
|
|
NM_000152.5(GAA):c.1051del (p.Val351fs)
|
rs786204507
|
|
NM_000152.5(GAA):c.1075+1G>T
|
|
|
NM_000152.5(GAA):c.1075+2T>C
|
|
|
NM_000152.5(GAA):c.1076-2A>G
|
rs1057516290
|
|
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg)
|
rs1555600061
|
|
NM_000152.5(GAA):c.1114C>T (p.His372Tyr)
|
rs1555600070
|
|
NM_000152.5(GAA):c.1115A>T (p.His372Leu)
|
rs1057516520
|
|
NM_000152.5(GAA):c.1117del (p.Leu373fs)
|
|
|
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu)
|
rs142752477
|
|
NM_000152.5(GAA):c.1128_1129delinsC (p.Trp376fs)
|
rs786204646
|
|
NM_000152.5(GAA):c.1143del (p.Ala382fs)
|
rs757458607
|
|
NM_000152.5(GAA):c.1193del (p.Leu398fs)
|
rs1057517286
|
|
NM_000152.5(GAA):c.1194+2T>G
|
|
|
NM_000152.5(GAA):c.1205G>A (p.Trp402Ter)
|
|
|
NM_000152.5(GAA):c.133del (p.Ser45fs)
|
|
|
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn)
|
rs535644999
|
|
NM_000152.5(GAA):c.1377dup (p.Glu460fs)
|
rs2039192386
|
|
NM_000152.5(GAA):c.1396dup (p.Val466fs)
|
|
|
NM_000152.5(GAA):c.1407del (p.Asn470fs)
|
|
|
NM_000152.5(GAA):c.1408_1410del (p.Asn470del)
|
rs748893499
|
|
NM_000152.5(GAA):c.1410C>A (p.Asn470Lys)
|
rs886043068
|
|
NM_000152.5(GAA):c.1437+1G>A
|
rs1555600575
|
|
NM_000152.5(GAA):c.1438-1G>A
|
|
|
NM_000152.5(GAA):c.1438-1G>C
|
rs147804176
|
|
NM_000152.5(GAA):c.1438-1G>T
|
rs147804176
|
|
NM_000152.5(GAA):c.1445C>G (p.Pro482Arg)
|
rs2039212985
|
|
NM_000152.5(GAA):c.1456G>C (p.Ala486Pro)
|
|
|
NM_000152.5(GAA):c.1494del (p.Trp498fs)
|
|
|
NM_000152.5(GAA):c.1555A>G (p.Met519Val)
|
rs1598581919
|
|
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala)
|
rs892129065
|
|
NM_000152.5(GAA):c.1579_1580del (p.Arg527fs)
|
rs1291214871
|
|
NM_000152.5(GAA):c.1583G>C (p.Gly528Ala)
|
rs794727016
|
|
NM_000152.5(GAA):c.1636+1G>A
|
|
|
NM_000152.5(GAA):c.1650dup (p.Thr551fs)
|
rs766398206
|
|
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe)
|
rs747150965
|
|
NM_000152.5(GAA):c.169C>T (p.Gln57Ter)
|
rs1057516251
|
|
NM_000152.5(GAA):c.1703A>T (p.His568Leu)
|
rs2143882997
|
|
NM_000152.5(GAA):c.1721T>C (p.Leu574Pro)
|
|
|
NM_000152.5(GAA):c.1780C>T (p.Arg594Cys)
|
rs1428112902
|
|
NM_000152.5(GAA):c.1781G>A (p.Arg594His)
|
rs775450536
|
|
NM_000152.5(GAA):c.1798del (p.Arg600fs)
|
|
|
NM_000152.5(GAA):c.1799G>T (p.Arg600Leu)
|
|
|
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp)
|
rs374470794
|
|
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp)
|
rs1057517105
|
|
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.1844G>A (p.Gly615Glu)
|
rs1243515778
|
|
NM_000152.5(GAA):c.1853G>A (p.Trp618Ter)
|
|
|
NM_000152.5(GAA):c.1857C>G (p.Ser619Arg)
|
rs914396317
|
|
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe)
|
rs1024137874
|
|
NM_000152.5(GAA):c.1888+1G>A
|
rs776325453
|
|
NM_000152.5(GAA):c.1903A>G (p.Asn635Asp)
|
rs2143891559
|
|
NM_000152.5(GAA):c.1924G>T (p.Val642Phe)
|
|
|
NM_000152.5(GAA):c.1930_1936dup (p.Val646fs)
|
rs748829376
|
|
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn)
|
rs368438393
|
|
NM_000152.5(GAA):c.1933G>C (p.Asp645His)
|
rs368438393
|
|
NM_000152.5(GAA):c.1933G>T (p.Asp645Tyr)
|
rs368438393
|
|
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs)
|
rs1567835781
|
|
NM_000152.5(GAA):c.2003_2013dup (p.Arg672fs)
|
|
|
NM_000152.5(GAA):c.2015G>T (p.Arg672Leu)
|
|
|
NM_000152.5(GAA):c.2021ACA[1] (p.Asn675del)
|
rs786204621
|
|
NM_000152.5(GAA):c.2040+2T>G
|
|
|
NM_000152.5(GAA):c.2041-1G>A
|
rs760731229
|
|
NM_000152.5(GAA):c.2066_2069del (p.Glu689fs)
|
|
|
NM_000152.5(GAA):c.2082del (p.Ala694_Met695insTer)
|
rs2039287852
|
|
NM_000152.5(GAA):c.2095dup (p.Leu699fs)
|
rs2143895928
|
|
NM_000152.5(GAA):c.2105G>T (p.Arg702Leu)
|
rs398123172
|
|
NM_000152.5(GAA):c.2122del (p.His708fs)
|
|
|
NM_000152.5(GAA):c.2122dup (p.His708fs)
|
|
|
NM_000152.5(GAA):c.2136_2137del (p.Phe713fs)
|
rs1555601780
|
|
NM_000152.5(GAA):c.2140del (p.His714fs)
|
rs786204549
|
|
NM_000152.5(GAA):c.2161G>T (p.Glu721Ter)
|
rs140376273
|
|
NM_000152.5(GAA):c.2167G>A (p.Val723Met)
|
rs767247397
|
|
NM_000152.5(GAA):c.2185del (p.Leu729fs)
|
rs1057516581
|
|
NM_000152.5(GAA):c.2189+2T>A
|
|
|
NM_000152.5(GAA):c.2213G>A (p.Trp738Ter)
|
rs1057516327
|
|
NM_000152.5(GAA):c.2227C>T (p.Gln743Ter)
|
rs1057516277
|
|
NM_000152.5(GAA):c.2228A>G (p.Gln743Arg)
|
rs1567838823
|
|
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg)
|
rs1479740763
|
|
NM_000152.5(GAA):c.2237G>A (p.Trp746Ter)
|
rs752921215
|
|
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser)
|
rs752921215
|
|
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter)
|
rs1800312
|
|
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)
|
rs1800312
|
|
NM_000152.5(GAA):c.2242G>T (p.Glu748Ter)
|
rs1057516363
|
|
NM_000152.5(GAA):c.2242del (p.Glu748fs)
|
rs777275355
|
|
NM_000152.5(GAA):c.2242dup (p.Glu748fs)
|
rs777275355
|
|
NM_000152.5(GAA):c.2261dup (p.Val755fs)
|
rs1555602648
|
|
NM_000152.5(GAA):c.2269C>T (p.Gln757Ter)
|
rs200483245
|
|
NM_000152.5(GAA):c.2281delinsAT (p.Ala761fs)
|
rs1057516924
|
|
NM_000152.5(GAA):c.2294G>A (p.Gly765Asp)
|
rs1292367136
|
|
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser)
|
rs144016984
|
|
NM_000152.5(GAA):c.2303C>G (p.Pro768Arg)
|
|
|
NM_000152.5(GAA):c.2303C>T (p.Pro768Leu)
|
|
|
NM_000152.5(GAA):c.2331+1G>A
|
|
|
NM_000152.5(GAA):c.2331+1G>C
|
|
|
NM_000152.5(GAA):c.2331+4A>G
|
|
|
NM_000152.5(GAA):c.2332-1G>A
|
|
|
NM_000152.5(GAA):c.236_246del (p.Pro79fs)
|
rs1057517165
|
|
NM_000152.5(GAA):c.2408_2426del (p.Gln803fs)
|
rs763048948
|
|
NM_000152.5(GAA):c.2476del (p.Leu826fs)
|
|
|
NM_000152.5(GAA):c.2481+110_2646+39del
|
rs1598592604
|
|
NM_000152.5(GAA):c.2544del (p.Lys849fs)
|
rs398123173
|
|
NM_000152.5(GAA):c.258del (p.Asn87fs)
|
rs761317813
|
|
NM_000152.5(GAA):c.258dup (p.Asn87fs)
|
rs761317813
|
|
NM_000152.5(GAA):c.2644_2645insT (p.Asn882fs)
|
|
|
NM_000152.5(GAA):c.2655_2656delinsT (p.Ile885_Val886insTer)
|
|
|
NM_000152.5(GAA):c.2672del (p.Arg891fs)
|
|
|
NM_000152.5(GAA):c.2701del (p.Leu901fs)
|
|
|
NM_000152.5(GAA):c.2723del (p.Gly908fs)
|
|
|
NM_000152.5(GAA):c.276C>A (p.Cys92Ter)
|
rs1232001857
|
|
NM_000152.5(GAA):c.2799+2C>G
|
|
|
NM_000152.5(GAA):c.2815_2816del (p.Val939fs)
|
rs763359208
|
|
NM_000152.5(GAA):c.323G>A (p.Cys108Tyr)
|
|
|
NM_000152.5(GAA):c.340_341insT (p.Lys114fs)
|
rs2143827701
|
|
NM_000152.5(GAA):c.361C>T (p.Gln121Ter)
|
rs750668627
|
|
NM_000152.5(GAA):c.371_381del (p.Gln124fs)
|
|
|
NM_000152.5(GAA):c.378G>A (p.Trp126Ter)
|
rs2039041225
|
|
NM_000152.5(GAA):c.389del (p.Pro130fs)
|
|
|
NM_000152.5(GAA):c.396dup (p.Tyr133fs)
|
|
|
NM_000152.5(GAA):c.437del (p.Met146fs)
|
rs1555598869
|
|
NM_000152.5(GAA):c.465dup (p.Thr156fs)
|
|
|
NM_000152.5(GAA):c.482_483del (p.Pro161fs)
|
rs764750389
|
|
NM_000152.5(GAA):c.490_524del (p.Asp163_Ile164insTer)
|
|
|
NM_000152.5(GAA):c.511del (p.Asp170_Val171insTer)
|
rs2143829478
|
|
NM_000152.5(GAA):c.546+5G>T
|
rs756024023
|
|
NM_000152.5(GAA):c.546G>C (p.Thr182=)
|
rs143523371
|
|
NM_000152.5(GAA):c.546G>T (p.Thr182=)
|
rs143523371
|
|
NM_000152.5(GAA):c.569G>A (p.Arg190His)
|
rs528367092
|
|
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter)
|
rs376229714
|
|
NM_000152.5(GAA):c.692+2T>C
|
rs1555599171
|
|
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs)
|
rs786204532
|
|
NM_000152.5(GAA):c.796C>T (p.Pro266Ser)
|
rs1555599667
|
|
NM_000152.5(GAA):c.84dup (p.His29fs)
|
|
|
NM_000152.5(GAA):c.854C>G (p.Pro285Arg)
|
rs764622267
|
|
NM_000152.5(GAA):c.858+1G>A
|
|
|
NM_000152.5(GAA):c.859-2A>G
|
rs2143848897
|
|
NM_000152.5(GAA):c.873_874del (p.Tyr292fs)
|
|
|
NM_000152.5(GAA):c.989G>A (p.Trp330Ter)
|
rs1555599960
|
|
NM_000152.5(GAA):c.[2228A>G;2237G>C]
|
|
|
NM_000154.2(GALK1):c.1017T>A (p.Tyr339Ter)
|
rs1026685248
|
|
NM_000154.2(GALK1):c.1083_1096delinsATG (p.Pro362fs)
|
rs2061563475
|
|
NM_000154.2(GALK1):c.1150G>C (p.Ala384Pro)
|
|
|
NM_000154.2(GALK1):c.130C>T (p.His44Tyr)
|
rs1555748926
|
|
NM_000154.2(GALK1):c.166-5_227dup
|
rs2143605351
|
|
NM_000154.2(GALK1):c.265C>T (p.Gln89Ter)
|
rs2143605190
|
|
NM_000154.2(GALK1):c.355+1G>A
|
|
|
NM_000154.2(GALK1):c.364del (p.Leu122fs)
|
rs2061596711
|
|
NM_000154.2(GALK1):c.410del (p.Gly137fs)
|
rs767329054
|
|
NM_000154.2(GALK1):c.410dup (p.Gly138fs)
|
rs767329054
|
|
NM_000154.2(GALK1):c.510T>A (p.Cys170Ter)
|
rs775843885
|
|
NM_000154.2(GALK1):c.514C>T (p.Gln172Ter)
|
rs767799179
|
|
NM_000154.2(GALK1):c.547_562del (p.Gly183fs)
|
|
|
NM_000154.2(GALK1):c.580C>T (p.Gln194Ter)
|
|
|
NM_000154.2(GALK1):c.708C>A (p.Tyr236Ter)
|
|
|
NM_000154.2(GALK1):c.775C>T (p.Gln259Ter)
|
rs1599335132
|
|
NM_000154.2(GALK1):c.793+2T>G
|
|
|
NM_000154.2(GALK1):c.818_819del (p.Glu273fs)
|
|
|
NM_000154.2(GALK1):c.847_860dup (p.Thr288fs)
|
|
|
NM_000154.2(GALK1):c.853_874del (p.Ile285fs)
|
rs770087254
|
|
NM_000154.2(GALK1):c.901A>T (p.Arg301Ter)
|
|
|
NM_000155.3(GALT):c.790_792invCTA (p.Leu264Ter)
|
|
|
NM_000155.4(GALT):c.1052del (p.Pro351fs)
|
rs111033813
|
|
NM_000155.4(GALT):c.1057C>T (p.Gln353Ter)
|
rs111033818
|
|
NM_000155.4(GALT):c.1060-2A>G
|
|
|
NM_000155.4(GALT):c.1087G>A (p.Glu363Lys)
|
rs367543273
|
|
NM_000155.4(GALT):c.1087G>T (p.Glu363Ter)
|
|
|
NM_000155.4(GALT):c.152G>T (p.Arg51Leu)
|
rs111033648
|
|
NM_000155.4(GALT):c.165_174del (p.Gln56fs)
|
|
|
NM_000155.4(GALT):c.18del (p.Asp7fs)
|
rs111033638
|
|
NM_000155.4(GALT):c.20del (p.Asp7fs)
|
|
|
NM_000155.4(GALT):c.213dup (p.Asn72fs)
|
|
|
NM_000155.4(GALT):c.221T>C (p.Leu74Pro)
|
rs111033663
|
|
NM_000155.4(GALT):c.267C>G (p.Tyr89Ter)
|
|
|
NM_000155.4(GALT):c.278T>C (p.Phe93Ser)
|
rs1821135918
|
|
NM_000155.4(GALT):c.290A>G (p.Asn97Ser)
|
rs111033669
|
|
NM_000155.4(GALT):c.292G>C (p.Asp98His)
|
rs111033670
|
|
NM_000155.4(GALT):c.29_48delinsGACC (p.Gln10fs)
|
rs1587236467
|
|
NM_000155.4(GALT):c.367C>T (p.Arg123Ter)
|
rs111033674
|
|
NM_000155.4(GALT):c.368G>A (p.Arg123Gln)
|
rs111033675
|
|
NM_000155.4(GALT):c.37C>T (p.Gln13Ter)
|
|
|
NM_000155.4(GALT):c.400del (p.Trp134fs)
|
rs111033689
|
|
NM_000155.4(GALT):c.404C>G (p.Ser135Trp)
|
rs111033690
|
|
NM_000155.4(GALT):c.41delinsTT (p.Ala14fs)
|
rs111033634
|
|
NM_000155.4(GALT):c.428C>T (p.Ser143Leu)
|
rs111033697
|
|
NM_000155.4(GALT):c.450del (p.Val151fs)
|
|
|
NM_000155.4(GALT):c.502G>T (p.Val168Leu)
|
rs367543258
|
|
NM_000155.4(GALT):c.505C>A (p.Gln169Lys)
|
rs111033709
|
|
NM_000155.4(GALT):c.507G>C (p.Gln169His)
|
|
|
NM_000155.4(GALT):c.513del (p.Phe171fs)
|
rs886044409
|
|
NM_000155.4(GALT):c.550dup (p.His184fs)
|
|
|
NM_000155.4(GALT):c.552C>A (p.His184Gln)
|
rs111033717
|
|
NM_000155.4(GALT):c.562C>T (p.Gln188Ter)
|
rs398123182
|
|
NM_000155.4(GALT):c.565_578del
|
|
|
NM_000155.4(GALT):c.598del (p.Gln200fs)
|
rs111033738
|
|
NM_000155.4(GALT):c.616C>T (p.Gln206Ter)
|
rs1554709366
|
|
NM_000155.4(GALT):c.626A>C (p.Tyr209Ser)
|
rs111033744
|
|
NM_000155.4(GALT):c.634C>T (p.Gln212Ter)
|
rs111033746
|
|
NM_000155.4(GALT):c.667C>A (p.Arg223Ser)
|
rs111033750
|
|
NM_000155.4(GALT):c.719_728del (p.Leu240fs)
|
rs111033838
|
|
NM_000155.4(GALT):c.776G>A (p.Arg259Gln)
|
rs886042070
|
|
NM_000155.4(GALT):c.815G>A (p.Arg272His)
|
rs111033831
|
|
NM_000155.4(GALT):c.821-2A>G
|
rs111033767
|
|
NM_000155.4(GALT):c.823C>G (p.Leu275Val)
|
rs796051967
|
|
NM_000155.4(GALT):c.894G>A (p.Met298Ile)
|
rs1821187550
|
|
NM_000155.4(GALT):c.900G>A (p.Trp300Ter)
|
rs1034185619
|
|
NM_000155.4(GALT):c.904+1G>T
|
rs367543271
|
|
NM_000155.4(GALT):c.912_913insGA (p.Thr305fs)
|
|
|
NM_000155.4(GALT):c.957C>A (p.His319Gln)
|
rs111033792
|
|
NM_000155.4(GALT):c.997C>T (p.Arg333Trp)
|
rs111033800
|
|
NM_000158.4(GBE1):c.*12T>C
|
|
|
NM_000158.4(GBE1):c.1000del (p.Ile334fs)
|
|
|
NM_000158.4(GBE1):c.1053del (p.Phe351fs)
|
|
|
NM_000158.4(GBE1):c.1141_1142del (p.Phe381fs)
|
|
|
NM_000158.4(GBE1):c.1269_1270insC (p.Ile424fs)
|
|
|
NM_000158.4(GBE1):c.1276C>T (p.Gln426Ter)
|
|
|
NM_000158.4(GBE1):c.1336-1G>A
|
rs375253942
|
|
NM_000158.4(GBE1):c.1364G>A (p.Trp455Ter)
|
|
|
NM_000158.4(GBE1):c.1365G>A (p.Trp455Ter)
|
|
|
NM_000158.4(GBE1):c.143+1G>A
|
rs397515343
|
|
NM_000158.4(GBE1):c.143+2T>C
|
rs2107250439
|
|
NM_000158.4(GBE1):c.1443delinsCGC (p.Gln482fs)
|
|
|
NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys)
|
rs80338672
|
|
NM_000158.4(GBE1):c.1612T>G (p.Phe538Val)
|
|
|
NM_000158.4(GBE1):c.1618+1G>A
|
rs1703670302
|
|
NM_000158.4(GBE1):c.1671dup (p.Glu558Ter)
|
|
|
NM_000158.4(GBE1):c.1675_1676del (p.Ser559fs)
|
|
|
NM_000158.4(GBE1):c.167del (p.Ile55_Leu56insTer)
|
|
|
NM_000158.4(GBE1):c.1680C>A (p.Tyr560Ter)
|
rs1559637815
|
|
NM_000158.4(GBE1):c.1706del (p.His568_Leu569insTer)
|
rs1367364158
|
|
NM_000158.4(GBE1):c.1738del (p.Phe579_Leu580insTer)
|
|
|
NM_000158.4(GBE1):c.1788G>A (p.Trp596Ter)
|
rs201029706
|
|
NM_000158.4(GBE1):c.1799_1803+8del
|
|
|
NM_000158.4(GBE1):c.1804-2A>T
|
rs1224090803
|
|
NM_000158.4(GBE1):c.1825G>T (p.Glu609Ter)
|
rs772802187
|
|
NM_000158.4(GBE1):c.1934+1A>G
|
|
|
NM_000158.4(GBE1):c.1934+2T>C
|
|
|
NM_000158.4(GBE1):c.1935-1C>A
|
|
|
NM_000158.4(GBE1):c.1935-1C>T
|
rs1475447884
|
|
NM_000158.4(GBE1):c.2052+1G>A
|
rs2106809795
|
|
NM_000158.4(GBE1):c.2052+1G>T
|
rs2106809795
|
|
NM_000158.4(GBE1):c.22G>A (p.Ala8Thr)
|
|
|
NM_000158.4(GBE1):c.232G>A (p.Val78Ile)
|
|
|
NM_000158.4(GBE1):c.288del (p.Gly97fs)
|
rs1057517315
|
|
NM_000158.4(GBE1):c.321G>A (p.Trp107Ter)
|
rs2107114808
|
|
NM_000158.4(GBE1):c.336C>A (p.Tyr112Ter)
|
rs773473771
|
|
NM_000158.4(GBE1):c.430-1G>C
|
|
|
NM_000158.4(GBE1):c.47del (p.Ala16fs)
|
rs2107250805
|
|
NM_000158.4(GBE1):c.480G>A (p.Trp160Ter)
|
rs776943352
|
|
NM_000158.4(GBE1):c.505del (p.Asp169fs)
|
rs1370223073
|
|
NM_000158.4(GBE1):c.556-2A>G
|
|
|
NM_000158.4(GBE1):c.691+5G>C
|
rs397515344
|
|
NM_000158.4(GBE1):c.753C>G (p.Tyr251Ter)
|
|
|
NM_000158.4(GBE1):c.754C>T (p.Gln252Ter)
|
|
|
NM_000158.4(GBE1):c.755_756delinsC (p.Gln252fs)
|
|
|
NM_000158.4(GBE1):c.791G>A (p.Gly264Glu)
|
rs754525424
|
|
NM_000158.4(GBE1):c.854T>G (p.Leu285Ter)
|
|
|
NM_000158.4(GBE1):c.872_874delinsTT (p.His291fs)
|
|
|
NM_000158.4(GBE1):c.909_912del (p.Phe303fs)
|
rs2107059544
|
|
NM_000158.4(GBE1):c.957_958insCTAT (p.Asp320delinsLeuTer)
|
|
|
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser)
|
rs80338671
|
|
NM_000158.4(GBE1):c.992+2T>G
|
rs772349876
|
|
NM_000158.4(GBE1):c.993-1dup
|
|
|
NM_000158.4(GBE1):c.993-2A>G
|
|
|
NM_000158.4(GBE1):c.998A>T (p.Glu333Val)
|
rs1553684545
|
|
NM_000162.5(GCK):c.1155del (p.Leu386fs)
|
rs1400535021
|
|
NM_000162.5(GCK):c.391T>C (p.Ser131Pro)
|
rs104894010
|
|
NM_000162.5(GCK):c.683C>T (p.Thr228Met)
|
rs80356655
|
|
NM_000162.5(GCK):c.692A>T (p.Asn231Ile)
|
|
|
NM_000175.5(GPI):c.1595G>C (p.Ser532Thr)
|
rs139035514
|
|
NM_000188.3(HK1):c.1871dup (p.Ala625fs)
|
rs754451671
|
|
NM_000199.5(SGSH):c.1000dup (p.Ala334fs)
|
|
|
NM_000199.5(SGSH):c.1027dup (p.Leu343fs)
|
rs778700037
|
|
NM_000199.5(SGSH):c.1042_1055delinsA (p.Leu348fs)
|
|
|
NM_000199.5(SGSH):c.1062del (p.Glu355fs)
|
|
|
NM_000199.5(SGSH):c.1063G>T (p.Glu355Ter)
|
|
|
NM_000199.5(SGSH):c.1069dup (p.Leu357fs)
|
|
|
NM_000199.5(SGSH):c.1073G>A (p.Trp358Ter)
|
|
|
NM_000199.5(SGSH):c.1080del (p.Val361fs)
|
rs770947426
|
|
NM_000199.5(SGSH):c.1085_1086del (p.Phe362fs)
|
|
|
NM_000199.5(SGSH):c.1091_1103del (p.Ser364fs)
|
rs1567915763
|
|
NM_000199.5(SGSH):c.1130G>A (p.Arg377His)
|
rs746037899
|
|
NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.His381_Arg382insGlnArg)
|
rs398123244
|
|
NM_000199.5(SGSH):c.1218del (p.Thr407fs)
|
|
|
NM_000199.5(SGSH):c.1228_1241del (p.Asp410fs)
|
|
|
NM_000199.5(SGSH):c.1272_1282del (p.Tyr424_Arg428delinsTer)
|
rs752914124
|
|
NM_000199.5(SGSH):c.1317C>A (p.Tyr439Ter)
|
|
|
NM_000199.5(SGSH):c.1345del (p.Gln449fs)
|
rs1466245913
|
|
NM_000199.5(SGSH):c.1375C>T (p.Gln459Ter)
|
rs1567914459
|
|
NM_000199.5(SGSH):c.1380del (p.Leu461fs)
|
rs1555620092
|
|
NM_000199.5(SGSH):c.216del (p.Ser73fs)
|
rs1555622888
|
|
NM_000199.5(SGSH):c.221G>A (p.Arg74His)
|
rs778336949
|
|
NM_000199.5(SGSH):c.235A>C (p.Thr79Pro)
|
rs779703983
|
|
NM_000199.5(SGSH):c.267C>A (p.Tyr89Ter)
|
rs1479456289
|
|
NM_000199.5(SGSH):c.356-29_380del
|
|
|
NM_000199.5(SGSH):c.466A>T (p.Lys156Ter)
|
rs2041818115
|
|
NM_000199.5(SGSH):c.490C>T (p.Gln164Ter)
|
rs1598749661
|
|
NM_000199.5(SGSH):c.506+1G>A
|
rs763063355
|
|
NM_000199.5(SGSH):c.535G>A (p.Asp179Asn)
|
|
|
NM_000199.5(SGSH):c.617G>C (p.Arg206Pro)
|
rs104894643
|
|
NM_000199.5(SGSH):c.645C>A (p.Tyr215Ter)
|
|
|
NM_000199.5(SGSH):c.670del (p.Tyr224fs)
|
|
|
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu)
|
rs34520362
|
|
NM_000199.5(SGSH):c.691_698del (p.Ala231fs)
|
|
|
NM_000199.5(SGSH):c.693_705del (p.Ala232fs)
|
rs2041772144
|
|
NM_000199.5(SGSH):c.733C>T (p.Arg245Cys)
|
rs1455698449
|
|
NM_000199.5(SGSH):c.745+1G>C
|
rs748525651
|
|
NM_000199.5(SGSH):c.757del (p.Val253fs)
|
rs760281672
|
|
NM_000199.5(SGSH):c.7_16del (p.Cys3fs)
|
|
|
NM_000199.5(SGSH):c.823G>A (p.Gly275Arg)
|
rs765361603
|
|
NM_000199.5(SGSH):c.866_867del (p.Gly289fs)
|
|
|
NM_000199.5(SGSH):c.909del (p.Lys303fs)
|
rs775136193
|
|
NM_000199.5(SGSH):c.949+1G>A
|
|
|
NM_000202.8(IDS):c.404A>G (p.Lys135Arg)
|
rs104894861
|
|
NM_000202.8(IDS):c.525T>A (p.Asp175Glu)
|
rs2089452549
|
|
NM_000202.8(IDS):c.575C>G (p.Pro192Arg)
|
|
|
NM_000203.5(IDUA):c.1206G>A (p.Trp402Ter)
|
rs991612107
|
|
NM_000203.5(IDUA):c.1477C>A (p.Pro493Thr)
|
rs894585162
|
|
NM_000203.5(IDUA):c.525G>A (p.Trp175Ter)
|
rs776305028
|
|
NM_000263.4(NAGLU):c.100G>C (p.Ala34Pro)
|
rs2092906031
|
|
NM_000263.4(NAGLU):c.1314G>C (p.Met438Ile)
|
rs886493431
|
|
NM_000263.4(NAGLU):c.14C>T (p.Ala5Val)
|
rs2092905670
|
|
NM_000263.4(NAGLU):c.9GGTGGC[3] (p.4VA[3])
|
rs1024697806
|
|
NM_000284.4(PDHA1):c.1026_1039del (p.Arg343fs)
|
rs1569194036
|
|
NM_000284.4(PDHA1):c.1035_1036dup (p.Ile346fs)
|
rs2063245185
|
|
NM_000284.4(PDHA1):c.265G>A (p.Gly89Ser)
|
rs1569190092
|
|
NM_000284.4(PDHA1):c.427G>A (p.Gly143Arg)
|
rs1057518695
|
|
NM_000284.4(PDHA1):c.482A>G (p.Tyr161Cys)
|
rs1569190962
|
|
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser)
|
rs1555933963
|
|
NM_000284.4(PDHA1):c.523G>A (p.Ala175Thr)
|
rs1569191372
|
|
NM_000284.4(PDHA1):c.821G>C (p.Arg274Thr)
|
rs2063192867
|
|
NM_000284.4(PDHA1):c.899+2T>A
|
rs2063213491
|
|
NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys)
|
rs137853252
|
|
NM_000289.6(PFKM):c.-8-2A>G
|
|
|
NM_000289.6(PFKM):c.115C>T (p.Arg39Ter)
|
rs1064795749
|
|
NM_000289.6(PFKM):c.116G>A (p.Arg39Gln)
|
|
|
NM_000289.6(PFKM):c.116G>C (p.Arg39Pro)
|
rs121918193
|
|
NM_000289.6(PFKM):c.1280_1290del (p.Leu427fs)
|
|
|
NM_000289.6(PFKM):c.1282dup (p.Ile428fs)
|
|
|
NM_000289.6(PFKM):c.1341+1G>A
|
|
|
NM_000289.6(PFKM):c.1500+2T>A
|
|
|
NM_000289.6(PFKM):c.159+1G>T
|
rs1305706304
|
|
NM_000289.6(PFKM):c.160-1G>C
|
|
|
NM_000289.6(PFKM):c.1607del (p.Gly535_Ser536insTer)
|
rs866260025
|
|
NM_000289.6(PFKM):c.1620_1625delinsGGGGG (p.Ala542fs)
|
|
|
NM_000289.6(PFKM):c.1711G>A (p.Glu571Lys)
|
|
|
NM_000289.6(PFKM):c.1717_1718del (p.Met573fs)
|
|
|
NM_000289.6(PFKM):c.1807C>T (p.Arg603Ter)
|
|
|
NM_000289.6(PFKM):c.1876_1880+2del
|
|
|
NM_000289.6(PFKM):c.1905T>A (p.Tyr635Ter)
|
|
|
NM_000289.6(PFKM):c.2003del (p.Pro668fs)
|
rs767095759
|
|
NM_000289.6(PFKM):c.2080_2081del (p.Ser694fs)
|
rs1233958453
|
|
NM_000289.6(PFKM):c.2175del (p.Glu725fs)
|
|
|
NM_000289.6(PFKM):c.238-3A>G
|
|
|
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter)
|
rs121918195
|
|
NM_000289.6(PFKM):c.395G>A (p.Trp132Ter)
|
|
|
NM_000289.6(PFKM):c.491_500del (p.Ser164fs)
|
|
|
NM_000289.6(PFKM):c.539C>G (p.Ser180Cys)
|
|
|
NM_000289.6(PFKM):c.702dup (p.Pro235fs)
|
|
|
NM_000289.6(PFKM):c.736C>T (p.Arg246Ter)
|
rs866904446
|
|
NM_000289.6(PFKM):c.779_783delinsC (p.Ile260fs)
|
|
|
NM_000289.6(PFKM):c.811G>T (p.Gly271Ter)
|
|
|
NM_000289.6(PFKM):c.86-1G>C
|
|
|
NM_000289.6(PFKM):c.877dup (p.Val293fs)
|
|
|
NM_000289.6(PFKM):c.936+2T>G
|
|
|
NM_000290.4(PGAM2):c.368C>T (p.Pro123Leu)
|
|
|
NM_000291.4(PGK1):c.806T>G (p.Leu269Arg)
|
|
|
NM_000292.3(PHKA2):c.1757T>G (p.Ile586Ser)
|
|
|
NM_000292.3(PHKA2):c.2894G>A (p.Gly965Asp)
|
|
|
NM_000292.3(PHKA2):c.3287A>G (p.His1096Arg)
|
|
|
NM_000292.3(PHKA2):c.3529C>T (p.Gln1177Ter)
|
rs2047487518
|
|
NM_000292.3(PHKA2):c.394C>T (p.His132Tyr)
|
rs137852292
|
|
NM_000294.3(PHKG2):c.212G>A (p.Arg71Gln)
|
|
|
NM_000294.3(PHKG2):c.646C>A (p.Leu216Ile)
|
rs2053424230
|
|
NM_000294.3(PHKG2):c.927+13G>A
|
rs371298131
|
|
NM_000343.4(SLC5A1):c.1281G>T (p.Arg427Ser)
|
|
|
NM_000343.4(SLC5A1):c.765C>G (p.Cys255Trp)
|
rs888909415
|
|
NM_000352.6(ABCC8):c.1630+5G>T
|
rs1956364777
|
|
NM_000404.4(GLB1):c.1313G>A (p.Gly438Glu)
|
rs72555367
|
|
NM_000411.8(HLCS):c.1681dup
|
|
|
NM_000458.4(HNF1B):c.395A>G (p.His132Arg)
|
|
|
NM_000458.4(HNF1B):c.515del (p.Tyr172fs)
|
|
|
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys)
|
rs566453434
|
|
NM_000512.5(GALNS):c.1345G>A (p.Gly449Arg)
|
rs1910352262
|
|
NM_000512.5(GALNS):c.1365-1G>C
|
rs1909832718
|
|
NM_000528.4(MAN2B1):c.1027-2A>C
|
|
|
NM_000528.4(MAN2B1):c.1048dup (p.His350fs)
|
rs2145262260
|
|
NM_000528.4(MAN2B1):c.105_106del (p.Cys36fs)
|
rs2024251717
|
|
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter)
|
rs786204715
|
|
NM_000528.4(MAN2B1):c.1110dup
|
|
|
NM_000528.4(MAN2B1):c.1156del (p.Gln386fs)
|
|
|
NM_000528.4(MAN2B1):c.1197dup (p.Arg400fs)
|
rs753695099
|
|
NM_000528.4(MAN2B1):c.119dup (p.Leu40fs)
|
|
|
NM_000528.4(MAN2B1):c.1223_1224delinsAA (p.Phe408Ter)
|
|
|
NM_000528.4(MAN2B1):c.1228C>T (p.Gln410Ter)
|
rs2024019978
|
|
NM_000528.4(MAN2B1):c.1240C>T (p.Gln414Ter)
|
|
|
NM_000528.4(MAN2B1):c.1280_1296del (p.Pro427fs)
|
rs1057517408
|
|
NM_000528.4(MAN2B1):c.1309+1G>T
|
rs1057516745
|
|
NM_000528.4(MAN2B1):c.1310-2A>G
|
|
|
NM_000528.4(MAN2B1):c.1383C>A (p.Tyr461Ter)
|
rs775200333
|
|
NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter)
|
rs775200333
|
|
NM_000528.4(MAN2B1):c.1388_1389del (p.Arg463fs)
|
rs771647137
|
|
NM_000528.4(MAN2B1):c.1404dup (p.Trp469fs)
|
rs1599350640
|
|
NM_000528.4(MAN2B1):c.1420-27_1420-3del
|
|
|
NM_000528.4(MAN2B1):c.1516_1519del (p.Thr506fs)
|
rs1599349822
|
|
NM_000528.4(MAN2B1):c.1527+1G>A
|
|
|
NM_000528.4(MAN2B1):c.1527+2T>G
|
rs2145254041
|
|
NM_000528.4(MAN2B1):c.1528-1G>T
|
rs561991886
|
|
NM_000528.4(MAN2B1):c.164G>T (p.Cys55Phe)
|
rs864621975
|
|
NM_000528.4(MAN2B1):c.1859_1860del (p.Thr620fs)
|
|
|
NM_000528.4(MAN2B1):c.1928G>A (p.Trp643Ter)
|
rs1599344532
|
|
NM_000528.4(MAN2B1):c.1929-2A>T
|
|
|
NM_000528.4(MAN2B1):c.1963del (p.Gln655fs)
|
|
|
NM_000528.4(MAN2B1):c.1996_1999del (p.Gln666fs)
|
|
|
NM_000528.4(MAN2B1):c.2046+1G>A
|
rs1555707087
|
|
NM_000528.4(MAN2B1):c.2126_2127del (p.His709fs)
|
|
|
NM_000528.4(MAN2B1):c.2222del (p.Gly741fs)
|
|
|
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp)
|
rs80338680
|
|
NM_000528.4(MAN2B1):c.2396del (p.Gln799fs)
|
|
|
NM_000528.4(MAN2B1):c.241del (p.Val81fs)
|
|
|
NM_000528.4(MAN2B1):c.2436+5G>A
|
|
|
NM_000528.4(MAN2B1):c.2467C>T (p.Arg823Cys)
|
rs746805353
|
|
NM_000528.4(MAN2B1):c.247C>T (p.Gln83Ter)
|
rs2024217737
|
|
NM_000528.4(MAN2B1):c.2544_2568dup (p.Arg857fs)
|
|
|
NM_000528.4(MAN2B1):c.2596del (p.Ala866fs)
|
|
|
NM_000528.4(MAN2B1):c.262+2T>C
|
|
|
NM_000528.4(MAN2B1):c.2669C>G (p.Ser890Ter)
|
rs1406466561
|
|
NM_000528.4(MAN2B1):c.2696C>A (p.Ser899Ter)
|
rs767323371
|
|
NM_000528.4(MAN2B1):c.2752G>T (p.Glu918Ter)
|
rs2023718817
|
|
NM_000528.4(MAN2B1):c.2758C>T (p.Gln920Ter)
|
|
|
NM_000528.4(MAN2B1):c.2778_2781dup (p.Gly928fs)
|
|
|
NM_000528.4(MAN2B1):c.2802dup (p.Val935fs)
|
rs1057516864
|
|
NM_000528.4(MAN2B1):c.2917_2923+1dup
|
|
|
NM_000528.4(MAN2B1):c.293dup (p.Tyr99fs)
|
rs1735642901
|
|
NM_000528.4(MAN2B1):c.2999T>C (p.Phe1000Ser)
|
rs864621991
|
|
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter)
|
rs370803545
|
|
NM_000528.4(MAN2B1):c.426del (p.Val143fs)
|
rs2024205685
|
|
NM_000528.4(MAN2B1):c.437-1G>A
|
|
|
NM_000528.4(MAN2B1):c.437-1dup
|
rs1160557969
|
|
NM_000528.4(MAN2B1):c.561del (p.Arg188fs)
|
rs770297337
|
|
NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg)
|
rs864621977
|
|
NM_000528.4(MAN2B1):c.593dup (p.Gly199fs)
|
|
|
NM_000528.4(MAN2B1):c.664_667del (p.Asp222fs)
|
|
|
NM_000528.4(MAN2B1):c.763+2_763+8del
|
rs1057517108
|
|
NM_000528.4(MAN2B1):c.969del (p.Asn324fs)
|
|
|
NM_000545.8(HNF1A):c.58G>A (p.Gly20Arg)
|
rs1249563793
|
|
NM_000642.3(AGL):c.100del (p.Arg34fs)
|
|
|
NM_000642.3(AGL):c.1041dup (p.Val348fs)
|
rs2101126325
|
|
NM_000642.3(AGL):c.104T>G (p.Leu35Ter)
|
rs1057516567
|
|
NM_000642.3(AGL):c.1076_1078dup (p.Pro359_His360insPro)
|
rs750705888
|
|
NM_000642.3(AGL):c.1148C>G (p.Ser383Ter)
|
|
|
NM_000642.3(AGL):c.1243A>T (p.Lys415Ter)
|
rs2101128697
|
|
NM_000642.3(AGL):c.1283+2T>C
|
|
|
NM_000642.3(AGL):c.1284-1G>A
|
|
|
NM_000642.3(AGL):c.1284-2A>G
|
rs1651536973
|
|
NM_000642.3(AGL):c.1298_1299del (p.Pro433fs)
|
|
|
NM_000642.3(AGL):c.1319C>A (p.Ser440Tyr)
|
rs149771710
|
|
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer)
|
rs786204678
|
|
NM_000642.3(AGL):c.1423+1G>A
|
|
|
NM_000642.3(AGL):c.1437C>A (p.Tyr479Ter)
|
rs140095668
|
|
NM_000642.3(AGL):c.1447G>T (p.Glu483Ter)
|
|
|
NM_000642.3(AGL):c.1517G>A (p.Trp506Ter)
|
|
|
NM_000642.3(AGL):c.1589C>G (p.Ser530Ter)
|
rs1553185905
|
|
NM_000642.3(AGL):c.1612-1G>A
|
rs1327892944
|
|
NM_000642.3(AGL):c.1637T>A (p.Leu546Ter)
|
|
|
NM_000642.3(AGL):c.1680_1683dup (p.Asp562Ter)
|
|
|
NM_000642.3(AGL):c.1688delinsGA (p.Leu563fs)
|
rs1651876879
|
|
NM_000642.3(AGL):c.1735+5G>A
|
|
|
NM_000642.3(AGL):c.1788T>G (p.Tyr596Ter)
|
rs777871903
|
|
NM_000642.3(AGL):c.18_19del (p.Gln6fs)
|
rs113994127
|
|
NM_000642.3(AGL):c.193_194del (p.Leu65fs)
|
|
|
NM_000642.3(AGL):c.1942dup (p.Ser648fs)
|
rs2100758555
|
|
NM_000642.3(AGL):c.1998del (p.Gln667fs)
|
|
|
NM_000642.3(AGL):c.2034del (p.Lys679fs)
|
|
|
NM_000642.3(AGL):c.2036del (p.Lys679fs)
|
rs2100759432
|
|
NM_000642.3(AGL):c.214_215del (p.Glu72fs)
|
rs754978531
|
|
NM_000642.3(AGL):c.2155C>T (p.Gln719Ter)
|
rs1652018859
|
|
NM_000642.3(AGL):c.2207C>A (p.Ser736Ter)
|
|
|
NM_000642.3(AGL):c.223_224del (p.Glu74_Asp75insTer)
|
rs767346840
|
|
NM_000642.3(AGL):c.2349_2352del (p.Arg784fs)
|
|
|
NM_000642.3(AGL):c.2351_2352del (p.Arg784fs)
|
|
|
NM_000642.3(AGL):c.2457_2460del (p.Gln820fs)
|
rs1553187237
|
|
NM_000642.3(AGL):c.251dup (p.Asn84fs)
|
rs756175624
|
|
NM_000642.3(AGL):c.2538dup (p.Ile847fs)
|
rs1057516984
|
|
NM_000642.3(AGL):c.2546+1G>T
|
|
|
NM_000642.3(AGL):c.2670del (p.Pro891fs)
|
rs764591009
|
|
NM_000642.3(AGL):c.2681+1G>T
|
rs201201443
|
|
NM_000642.3(AGL):c.2690_2691dup (p.Arg898fs)
|
|
|
NM_000642.3(AGL):c.2799T>G (p.Tyr933Ter)
|
rs767529587
|
|
NM_000642.3(AGL):c.2812+1G>C
|
|
|
NM_000642.3(AGL):c.2869del (p.Cys957fs)
|
|
|
NM_000642.3(AGL):c.2905dup (p.Tyr969fs)
|
rs1652879873
|
|
NM_000642.3(AGL):c.2911A>G (p.Ser971Gly)
|
rs1211367569
|
|
NM_000642.3(AGL):c.293+1G>T
|
|
|
NM_000642.3(AGL):c.293+1del
|
rs777857395
|
|
NM_000642.3(AGL):c.2930G>T (p.Arg977Leu)
|
rs147977213
|
|
NM_000642.3(AGL):c.294-1G>C
|
rs757967016
|
|
NM_000642.3(AGL):c.294-2A>T
|
rs1057516868
|
|
NM_000642.3(AGL):c.2950-1G>A
|
rs1057516793
|
|
NM_000642.3(AGL):c.296del (p.Asn99fs)
|
|
|
NM_000642.3(AGL):c.2989C>T (p.Gln997Ter)
|
|
|
NM_000642.3(AGL):c.3011del (p.Pro1004fs)
|
rs1057516306
|
|
NM_000642.3(AGL):c.3083+1G>T
|
|
|
NM_000642.3(AGL):c.3084-1G>A
|
|
|
NM_000642.3(AGL):c.3091C>T (p.Gln1031Ter)
|
|
|
NM_000642.3(AGL):c.3204_3205dup (p.Arg1069fs)
|
|
|
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs)
|
rs771069887
|
|
NM_000642.3(AGL):c.3238del (p.Cys1080fs)
|
|
|
NM_000642.3(AGL):c.3259+1G>C
|
|
|
NM_000642.3(AGL):c.3287dup (p.Arg1097fs)
|
|
|
NM_000642.3(AGL):c.3362+1G>A
|
rs1553189468
|
|
NM_000642.3(AGL):c.3362+2T>C
|
rs2100804114
|
|
NM_000642.3(AGL):c.3362G>A (p.Arg1121Lys)
|
rs1653326843
|
|
NM_000642.3(AGL):c.3481_3589-405del
|
|
|
NM_000642.3(AGL):c.3588_3588+14del
|
|
|
NM_000642.3(AGL):c.3589-3C>G
|
rs1653935585
|
|
NM_000642.3(AGL):c.3630del (p.Lys1210fs)
|
rs1653938652
|
|
NM_000642.3(AGL):c.3639G>C (p.Gln1213His)
|
rs1213904866
|
|
NM_000642.3(AGL):c.3662del (p.Asn1221fs)
|
|
|
NM_000642.3(AGL):c.3665del (p.Ala1222fs)
|
|
|
NM_000642.3(AGL):c.3677T>G (p.Ile1226Arg)
|
rs749118487
|
|
NM_000642.3(AGL):c.36_37insCG (p.Asn13fs)
|
rs762545015
|
|
NM_000642.3(AGL):c.3701-2A>G
|
|
|
NM_000642.3(AGL):c.3733del (p.Thr1245fs)
|
|
|
NM_000642.3(AGL):c.3745del (p.Tyr1249fs)
|
|
|
NM_000642.3(AGL):c.378T>A (p.Cys126Ter)
|
rs1553183359
|
|
NM_000642.3(AGL):c.3882dup (p.Arg1295fs)
|
|
|
NM_000642.3(AGL):c.3911dup (p.Asn1304fs)
|
rs745757264
|
|
NM_000642.3(AGL):c.3949+1G>C
|
|
|
NM_000642.3(AGL):c.3972T>G (p.Tyr1324Ter)
|
|
|
NM_000642.3(AGL):c.4100del (p.Gly1367fs)
|
rs777120567
|
|
NM_000642.3(AGL):c.4115G>A (p.Trp1372Ter)
|
rs1183383313
|
|
NM_000642.3(AGL):c.4162-1G>A
|
rs1490339052
|
|
NM_000642.3(AGL):c.4162-5_4162-1delinsCTAGTGAAT
|
|
|
NM_000642.3(AGL):c.4193G>A (p.Trp1398Ter)
|
rs1344484845
|
|
NM_000642.3(AGL):c.4221del (p.Lys1407fs)
|
rs786204655
|
|
NM_000642.3(AGL):c.4221dup (p.Leu1408fs)
|
rs786204655
|
|
NM_000642.3(AGL):c.4255_4259+150del
|
|
|
NM_000642.3(AGL):c.4256dup (p.Asp1420fs)
|
|
|
NM_000642.3(AGL):c.4259+5G>A
|
rs780504025
|
|
NM_000642.3(AGL):c.4422del (p.Ala1475fs)
|
rs1286364615
|
|
NM_000642.3(AGL):c.4456del (p.Ser1486fs)
|
rs113994134
|
|
NM_000642.3(AGL):c.4481+2T>G
|
rs1553193530
|
|
NM_000642.3(AGL):c.4490G>A (p.Trp1497Ter)
|
|
|
NM_000642.3(AGL):c.471del (p.Met157fs)
|
|
|
NM_000642.3(AGL):c.506_507insA (p.Ser169_Arg170insTer)
|
|
|
NM_000642.3(AGL):c.535_538del (p.Leu179fs)
|
rs794727706
|
|
NM_000642.3(AGL):c.538G>T (p.Glu180Ter)
|
|
|
NM_000642.3(AGL):c.557C>G (p.Ser186Ter)
|
|
|
NM_000642.3(AGL):c.604del (p.Glu202fs)
|
|
|
NM_000642.3(AGL):c.619del (p.Glu207fs)
|
|
|
NM_000642.3(AGL):c.665-2A>G
|
|
|
NM_000642.3(AGL):c.672dup (p.Ser225Ter)
|
rs1057516471
|
|
NM_000642.3(AGL):c.743G>A (p.Trp248Ter)
|
|
|
NM_000642.3(AGL):c.753_756del (p.Asp251fs)
|
rs748789700
|
|
NM_000642.3(AGL):c.809dup (p.Ile271fs)
|
|
|
NM_000642.3(AGL):c.83-2A>G
|
|
|
NM_000642.3(AGL):c.861_864del (p.Ile288fs)
|
rs1571243699
|
|
NM_000642.3(AGL):c.947_948del (p.Leu316fs)
|
rs1650934988
|
|
NM_000642.3(AGL):c.958+1G>C
|
|
|
NM_000642.3(AGL):c.967C>T (p.Arg323Ter)
|
rs757987101
|
|
NM_000891.3(KCNJ2):c.896A>G (p.Glu299Gly)
|
rs786205817
|
|
NM_000925.4(PDHB):c.122_123del (p.Gln41fs)
|
|
|
NM_000925.4(PDHB):c.211C>T (p.Arg71Ter)
|
|
|
NM_000925.4(PDHB):c.352C>T (p.Gln118Ter)
|
|
|
NM_000925.4(PDHB):c.469C>T (p.Gln157Ter)
|
|
|
NM_000925.4(PDHB):c.607G>T (p.Glu203Ter)
|
|
|
NM_000925.4(PDHB):c.716_717del (p.Val239fs)
|
|
|
NM_000925.4(PDHB):c.934+1G>A
|
|
|
NM_001040616.3(LINS1):c.1826C>G (p.Ala609Gly)
|
rs1596871384
|
|
NM_001040616.3(LINS1):c.2004G>C (p.Arg668Ser)
|
rs2037687560
|
|
NM_001040616.3(LINS1):c.305_306delinsAA (p.Arg102Gln)
|
rs2038477427
|
|
NM_001040616.3(LINS1):c.997G>A (p.Asp333Asn)
|
rs2037993710
|
|
NM_001040716.2(PC):c.1351C>T (p.Arg451Cys)
|
rs113994143
|
|
NM_001040716.2(PC):c.1357C>T (p.Arg453Ter)
|
rs768514713
|
|
NM_001040716.2(PC):c.1368+1G>A
|
rs755640269
|
|
NM_001040716.2(PC):c.156dup (p.Phe53fs)
|
|
|
NM_001040716.2(PC):c.1639C>T (p.Arg547Ter)
|
|
|
NM_001040716.2(PC):c.1799dup (p.Leu601fs)
|
|
|
NM_001040716.2(PC):c.1825+2T>G
|
|
|
NM_001040716.2(PC):c.1825+3A>C
|
rs1945555370
|
|
NM_001040716.2(PC):c.1826-1G>C
|
|
|
NM_001040716.2(PC):c.1980del (p.Phe660fs)
|
|
|
NM_001040716.2(PC):c.1989_1990dup (p.Glu664fs)
|
|
|
NM_001040716.2(PC):c.2492T>C (p.Val831Ala)
|
|
|
NM_001040716.2(PC):c.2493_2494del (p.Val831_Phe832insTer)
|
rs756355930
|
|
NM_001040716.2(PC):c.2532_2533del (p.Tyr845fs)
|
|
|
NM_001040716.2(PC):c.2535C>A (p.Tyr845Ter)
|
|
|
NM_001040716.2(PC):c.2606G>A (p.Gly869Asp)
|
rs1555015018
|
|
NM_001040716.2(PC):c.2800C>T (p.Gln934Ter)
|
|
|
NM_001040716.2(PC):c.2866dup (p.His956fs)
|
|
|
NM_001040716.2(PC):c.295del (p.Ile99fs)
|
|
|
NM_001040716.2(PC):c.3089del (p.Leu1030fs)
|
|
|
NM_001040716.2(PC):c.3146_3147+1del
|
|
|
NM_001040716.2(PC):c.3284dup (p.Met1095fs)
|
|
|
NM_001040716.2(PC):c.3409_3410del (p.Leu1137fs)
|
rs113994148
|
|
NM_001040716.2(PC):c.3496A>G (p.Met1166Val)
|
rs1945302855
|
|
NM_001040716.2(PC):c.370C>T (p.Arg124Ter)
|
|
|
NM_001040716.2(PC):c.488-6C>A
|
|
|
NM_001040716.2(PC):c.52C>T (p.Arg18Ter)
|
rs144583275
|
|
NM_001040716.2(PC):c.584C>T (p.Ala195Val)
|
rs1436643226
|
|
NM_001040716.2(PC):c.634-1G>A
|
|
|
NM_001040716.2(PC):c.796T>G (p.Ser266Ala)
|
rs113994142
|
|
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.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_001136035.4(TRMT1):c.1019+9G>C
|
rs375881785
|
|
NM_001136035.4(TRMT1):c.1078G>A (p.Gly360Ser)
|
rs753225455
|
|
NM_001136035.4(TRMT1):c.1161_1162del (p.Cys387fs)
|
|
|
NM_001136035.4(TRMT1):c.1385T>C (p.Leu462Pro)
|
|
|
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.1310C>A (p.Pro437His)
|
rs1247214249
|
|
NM_001160372.4(TRAPPC9):c.151C>T (p.Arg51Ter)
|
rs2071449158
|
|
NM_001160372.4(TRAPPC9):c.2795C>A (p.Ala932Asp)
|
rs759330508
|
|
NM_001160372.4(TRAPPC9):c.3047T>C (p.Leu1016Pro)
|
rs1829977055
|
|
NM_001164277.2(SLC37A4):c.1016G>A (p.Gly339Asp)
|
rs121908980
|
|
NM_001164277.2(SLC37A4):c.1063G>T (p.Glu355Ter)
|
rs121908975
|
|
NM_001164277.2(SLC37A4):c.1063_1064insTTGGG (p.Glu355fs)
|
|
|
NM_001164277.2(SLC37A4):c.1065del (p.Ser356fs)
|
|
|
NM_001164277.2(SLC37A4):c.1082del (p.Leu361fs)
|
|
|
NM_001164277.2(SLC37A4):c.1110_1117dup (p.Ala373fs)
|
|
|
NM_001164277.2(SLC37A4):c.1124+1G>A
|
|
|
NM_001164277.2(SLC37A4):c.1124+3_1124+6del
|
rs782612223
|
|
NM_001164277.2(SLC37A4):c.1125-1G>A
|
rs782202675
|
|
NM_001164277.2(SLC37A4):c.1149del (p.Phe384fs)
|
|
|
NM_001164277.2(SLC37A4):c.148+1G>A
|
rs1943672400
|
|
NM_001164277.2(SLC37A4):c.148+2T>C
|
rs1449998297
|
|
NM_001164277.2(SLC37A4):c.148G>A (p.Gly50Arg)
|
|
|
NM_001164277.2(SLC37A4):c.169_175del (p.Ser57fs)
|
rs782501672
|
|
NM_001164277.2(SLC37A4):c.195dup (p.Val66fs)
|
|
|
NM_001164277.2(SLC37A4):c.320G>A (p.Trp107Ter)
|
|
|
NM_001164277.2(SLC37A4):c.343G>A (p.Gly115Arg)
|
|
|
NM_001164277.2(SLC37A4):c.345dup (p.Leu116fs)
|
rs782604758
|
|
NM_001164277.2(SLC37A4):c.356_359dup (p.Cys121fs)
|
|
|
NM_001164277.2(SLC37A4):c.359dup (p.Cys121fs)
|
rs1182102272
|
|
NM_001164277.2(SLC37A4):c.365G>A (p.Gly122Glu)
|
|
|
NM_001164277.2(SLC37A4):c.382-1G>T
|
|
|
NM_001164277.2(SLC37A4):c.484_485del (p.Ser162fs)
|
|
|
NM_001164277.2(SLC37A4):c.530_531dup (p.Val178fs)
|
|
|
NM_001164277.2(SLC37A4):c.572C>T (p.Pro191Leu)
|
rs193302888
|
|
NM_001164277.2(SLC37A4):c.576dup (p.Asp193Ter)
|
|
|
NM_001164277.2(SLC37A4):c.59dup (p.Tyr21fs)
|
rs1943676862
|
|
NM_001164277.2(SLC37A4):c.637del (p.Glu213fs)
|
|
|
NM_001164277.2(SLC37A4):c.649delinsGG (p.Leu217fs)
|
|
|
NM_001164277.2(SLC37A4):c.671dup (p.Tyr225fs)
|
|
|
NM_001164277.2(SLC37A4):c.703GTG[1] (p.Val236del)
|
rs121908977
|
|
NM_001164277.2(SLC37A4):c.736T>C (p.Trp246Arg)
|
rs193302878
|
|
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs)
|
rs1447366650
|
|
NM_001164277.2(SLC37A4):c.795C>G (p.Tyr265Ter)
|
|
|
NM_001164277.2(SLC37A4):c.845_848del (p.Tyr282fs)
|
rs1555190956
|
|
NM_001164277.2(SLC37A4):c.871+1G>A
|
|
|
NM_001164277.2(SLC37A4):c.872-7_873dup
|
|
|
NM_001164277.2(SLC37A4):c.882dup (p.Asn295fs)
|
|
|
NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His)
|
rs193302903
|
|
NM_001164277.2(SLC37A4):c.902A>C (p.His301Pro)
|
rs193302891
|
|
NM_001164277.2(SLC37A4):c.923_934dup (p.Met308_Met311dup)
|
rs786204477
|
|
NM_001164277.2(SLC37A4):c.925del (p.Ala309fs)
|
rs2134631619
|
|
NM_001164277.2(SLC37A4):c.935_936del (p.Thr312fs)
|
|
|
NM_001164277.2(SLC37A4):c.969_975del (p.Ser324fs)
|
|
|
NM_001164277.2(SLC37A4):c.976dup (p.Ser326fs)
|
rs2134631242
|
|
NM_001164277.2(SLC37A4):c.981del (p.Lys328fs)
|
rs1001301633
|
|
NM_001164277.2(SLC37A4):c.986-1G>C
|
|
|
NM_001352514.2(HLCS):c.1045G>T (p.Glu349Ter)
|
rs148324626
|
|
NM_001352514.2(HLCS):c.1063_1064del (p.Asp355fs)
|
|
|
NM_001352514.2(HLCS):c.1083T>A (p.Cys361Ter)
|
|
|
NM_001352514.2(HLCS):c.1133del (p.Gln378fs)
|
|
|
NM_001352514.2(HLCS):c.1151T>C (p.Leu384Pro)
|
rs119103227
|
|
NM_001352514.2(HLCS):c.1219_1222dup (p.Gly408fs)
|
|
|
NM_001352514.2(HLCS):c.1223del (p.Gly408fs)
|
rs771944310
|
|
NM_001352514.2(HLCS):c.1223dup (p.Ala409fs)
|
|
|
NM_001352514.2(HLCS):c.1289del (p.Ser430fs)
|
|
|
NM_001352514.2(HLCS):c.1326del (p.Val443fs)
|
|
|
NM_001352514.2(HLCS):c.1434C>A (p.Cys478Ter)
|
rs2066882139
|
|
NM_001352514.2(HLCS):c.1550_1551insT (p.Leu518fs)
|
|
|
NM_001352514.2(HLCS):c.1576C>T (p.Gln526Ter)
|
rs1393866282
|
|
NM_001352514.2(HLCS):c.1600_1604del (p.Tyr534fs)
|
|
|
NM_001352514.2(HLCS):c.1631del (p.Asp544fs)
|
|
|
NM_001352514.2(HLCS):c.1646G>A (p.Trp549Ter)
|
rs1342457304
|
|
NM_001352514.2(HLCS):c.1658_1659del (p.His553fs)
|
|
|
NM_001352514.2(HLCS):c.1699_1700del (p.Ser566_Leu567insTer)
|
rs1555930523
|
|
NM_001352514.2(HLCS):c.1705_1733dup (p.Glu578delinsAspLeuPheHisProThrCysLeuLysTer)
|
|
|
NM_001352514.2(HLCS):c.1869del (p.Thr624fs)
|
rs2065031709
|
|
NM_001352514.2(HLCS):c.1892+1G>A
|
|
|
NM_001352514.2(HLCS):c.1961-2A>G
|
|
|
NM_001352514.2(HLCS):c.1974T>A (p.Asn658Lys)
|
|
|
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met)
|
rs119103231
|
|
NM_001352514.2(HLCS):c.2185G>A (p.Gly729Arg)
|
|
|
NM_001352514.2(HLCS):c.2237-2A>G
|
|
|
NM_001352514.2(HLCS):c.2341G>T (p.Asp781Tyr)
|
|
|
NM_001352514.2(HLCS):c.2450+2T>A
|
|
|
NM_001352514.2(HLCS):c.331-1G>C
|
|
|
NM_001352514.2(HLCS):c.476dup (p.Pro160fs)
|
|
|
NM_001352514.2(HLCS):c.494-1G>A
|
|
|
NM_001352514.2(HLCS):c.513dup (p.Thr172fs)
|
|
|
NM_001352514.2(HLCS):c.726dup (p.Val243fs)
|
|
|
NM_001352514.2(HLCS):c.727del (p.Val243fs)
|
rs2146528200
|
|
NM_001352514.2(HLCS):c.857del (p.Leu286fs)
|
|
|
NM_001352514.2(HLCS):c.863del (p.Ser288fs)
|
rs1015594025
|
|
NM_001352514.2(HLCS):c.929del (p.Asn310fs)
|
|
|
NM_001352514.2(HLCS):c.958del (p.Gln320fs)
|
|
|
NM_001358263.1(HK1):c.75+20336T>A
|
rs769395943
|
|
NM_001360016.2(G6PD):c.1361G>C (p.Arg454Pro)
|
rs137852324
|
|
NM_001370658.1(BTD):c.-18A>T
|
rs143058480
|
|
NM_001370658.1(BTD):c.-24A>T
|
|
|
NM_001370658.1(BTD):c.1030dup (p.Ile344fs)
|
|
|
NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter)
|
rs397514434
|
|
NM_001370658.1(BTD):c.111T>G (p.Tyr37Ter)
|
rs397514339
|
|
NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs)
|
rs672601248
|
|
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del)
|
rs397514404
|
|
NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg)
|
rs397514408
|
|
NM_001370658.1(BTD):c.1211G>C (p.Cys404Ser)
|
rs397514335
|
|
NM_001370658.1(BTD):c.1247_1248del (p.Glu416fs)
|
rs1057517225
|
|
NM_001370658.1(BTD):c.1254T>A (p.Tyr418Ter)
|
rs397514416
|
|
NM_001370658.1(BTD):c.1264del (p.Val422fs)
|
rs1057517362
|
|
NM_001370658.1(BTD):c.1292_1293del (p.Gly431fs)
|
rs1553654142
|
|
NM_001370658.1(BTD):c.1372G>C (p.Ala458Pro)
|
rs181396238
|
|
NM_001370658.1(BTD):c.1387G>T (p.Glu463Ter)
|
rs1559600871
|
|
NM_001370658.1(BTD):c.1399del (p.Trp467fs)
|
rs397514423
|
|
NM_001370658.1(BTD):c.1406A>G (p.Asn469Ser)
|
|
|
NM_001370658.1(BTD):c.1419del (p.Tyr474fs)
|
rs1559600938
|
|
NM_001370658.1(BTD):c.1433dup (p.Leu478fs)
|
rs397514425
|
|
NM_001370658.1(BTD):c.1448_1452del (p.Gly483fs)
|
rs398123138
|
|
NM_001370658.1(BTD):c.1466C>G (p.Pro489Arg)
|
rs1559601041
|
|
NM_001370658.1(BTD):c.1503del (p.Arg502fs)
|
rs1163419871
|
|
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser)
|
rs80338686
|
|
NM_001370658.1(BTD):c.167del (p.Leu56fs)
|
|
|
NM_001370658.1(BTD):c.202C>T (p.Gln68Ter)
|
rs151071780
|
|
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys)
|
rs397514348
|
|
NM_001370658.1(BTD):c.333del (p.Phe111fs)
|
rs397514356
|
|
NM_001370658.1(BTD):c.346del (p.Gln116fs)
|
rs1404904752
|
|
NM_001370658.1(BTD):c.359G>A (p.Trp120Ter)
|
rs2125486425
|
|
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)
|
rs80338684
|
|
NM_001370658.1(BTD):c.399G>A (p.Glu133=)
|
rs397514360
|
|
NM_001370658.1(BTD):c.406C>T (p.Gln136Ter)
|
rs397514362
|
|
NM_001370658.1(BTD):c.419G>A (p.Cys140Tyr)
|
|
|
NM_001370658.1(BTD):c.466A>T (p.Lys156Ter)
|
|
|
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu)
|
rs750363004
|
|
NM_001370658.1(BTD):c.527del (p.Thr176fs)
|
rs1553653680
|
|
NM_001370658.1(BTD):c.52del (p.Val18fs)
|
|
|
NM_001370658.1(BTD):c.545A>T (p.Asn182Ile)
|
rs397514376
|
|
NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys)
|
rs397507174
|
|
NM_001370658.1(BTD):c.589_591delinsAGTA (p.Phe197fs)
|
rs1553653732
|
|
NM_001370658.1(BTD):c.594G>C (p.Glu198Asp)
|
rs397514379
|
|
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr)
|
rs397514380
|
|
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile)
|
rs587783005
|
|
NM_001370658.1(BTD):c.755G>A (p.Trp252Ter)
|
rs148031701
|
|
NM_001370658.1(BTD):c.76G>T (p.Glu26Ter)
|
rs397514336
|
|
NM_001370658.1(BTD):c.772C>G (p.Leu258Val)
|
rs397514388
|
|
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro)
|
rs397514389
|
|
NM_001370658.1(BTD):c.799del (p.Ala267fs)
|
|
|
NM_001370658.1(BTD):c.835G>C (p.Ala279Pro)
|
rs1157567876
|
|
NM_001370658.1(BTD):c.932_941del (p.His311fs)
|
rs773137513
|
|
NM_001370658.1(BTD):c.946C>T (p.Gln316Ter)
|
|
|
NM_001370658.1(BTD):c.992del (p.Thr331fs)
|
rs397514398
|
|
NM_001543.5(NDST1):c.2468G>C (p.Gly823Ala)
|
rs1755738807
|
|
NM_001715.3(BLK):c.84C>A (p.Val28=)
|
rs1585387563
|
|
NM_001807.6(CEL):c.2029G>T (p.Gly677Trp)
|
rs984492184
|
|
NM_001931.5(DLAT):c.1016C>T (p.Thr339Ile)
|
|
|
NM_001931.5(DLAT):c.367G>T (p.Asp123Tyr)
|
rs1555179247
|
|
NM_001931.5(DLAT):c.956C>T (p.Pro319Leu)
|
rs1862832629
|
|
NM_002294.3(LAMP2):c.1217G>T (p.Gly406Val)
|
rs2058522120
|
|
NM_002294.3(LAMP2):c.138G>A (p.Trp46Ter)
|
rs1271031981
|
|
NM_002294.3(LAMP2):c.595C>T (p.Pro199Ser)
|
|
|
NM_002294.3(LAMP2):c.614_615del (p.Val205fs)
|
rs2058605108
|
|
NM_002637.4(PHKA1):c.152T>C (p.Ile51Thr)
|
rs2054403951
|
|
NM_002637.4(PHKA1):c.1664G>A (p.Arg555Gln)
|
|
|
NM_002637.4(PHKA1):c.2603_2604del (p.Ser868fs)
|
rs2052776972
|
|
NM_002863.5(PYGL):c.1099G>A (p.Glu367Lys)
|
|
|
NM_002863.5(PYGL):c.528+2T>C
|
rs1243388778
|
|
NM_002863.5(PYGL):c.749C>T (p.Pro250Leu)
|
rs1472614445
|
|
NM_003041.4(SLC5A2):c.776G>A (p.Arg259Gln)
|
|
|
NM_003477.3(PDHX):c.1012dup (p.Val338fs)
|
|
|
NM_003477.3(PDHX):c.38T>C (p.Leu13Pro)
|
|
|
NM_003619.4(PRSS12):c.121C>T (p.Pro41Ser)
|
rs761103069
|
|
NM_003619.4(PRSS12):c.2040-1G>C
|
rs780630558
|
|
NM_003619.4(PRSS12):c.235G>C (p.Ala79Pro)
|
rs767822958
|
|
NM_003619.4(PRSS12):c.254C>A (p.Thr85Lys)
|
rs1724538705
|
|
NM_003805.5(CRADD):c.316A>T (p.Ile106Phe)
|
rs199846727
|
|
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.1181C>T (p.Pro394Leu)
|
rs1775982467
|
|
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.3566G>T (p.Arg1189Leu)
|
rs146599947
|
|
NM_005271.5(GLUD1):c.839T>C (p.Ile280Thr)
|
rs1845968579
|
|
NM_005327.7(HADH):c.130C>T (p.Gln44Ter)
|
|
|
NM_005327.7(HADH):c.262-2A>G
|
|
|
NM_005327.7(HADH):c.419+1G>A
|
|
|
NM_005327.7(HADH):c.419+1G>C
|
|
|
NM_005327.7(HADH):c.424dup (p.Thr142fs)
|
|
|
NM_005327.7(HADH):c.587del (p.Ser196fs)
|
rs745727504
|
|
NM_005327.7(HADH):c.709+2T>C
|
|
|
NM_005536.4(IMPA1):c.719G>A (p.Gly240Asp)
|
rs1260261553
|
|
NM_005566.4(LDHA):c.476T>A (p.Ile159Asn)
|
rs768761936
|
|
NM_005609.4(PYGM):c.1010A>G (p.Gln337Arg)
|
|
|
NM_005609.4(PYGM):c.1045G>A (p.Glu349Lys)
|
|
|
NM_005609.4(PYGM):c.1093-2A>T
|
|
|
NM_005609.4(PYGM):c.1119T>A (p.Cys373Ter)
|
rs2058377004
|
|
NM_005609.4(PYGM):c.1144C>G (p.Pro382Ala)
|
|
|
NM_005609.4(PYGM):c.1162_1169delinsA (p.Trp388fs)
|
rs2058376262
|
|
NM_005609.4(PYGM):c.120_121insA (p.Val41fs)
|
|
|
NM_005609.4(PYGM):c.1240-2A>G
|
rs1212333772
|
|
NM_005609.4(PYGM):c.125del (p.Lys42fs)
|
|
|
NM_005609.4(PYGM):c.1275dup (p.Leu426fs)
|
|
|
NM_005609.4(PYGM):c.1278_1288dup (p.Ser430fs)
|
rs2058372554
|
|
NM_005609.4(PYGM):c.1362_1394del (p.Asn454_Leu464del)
|
|
|
NM_005609.4(PYGM):c.1403+1G>A
|
rs1191939323
|
|
NM_005609.4(PYGM):c.1446_1447dup (p.Lys483fs)
|
|
|
NM_005609.4(PYGM):c.1466dup (p.Arg490fs)
|
rs886041476
|
|
NM_005609.4(PYGM):c.1468C>T (p.Arg490Trp)
|
|
|
NM_005609.4(PYGM):c.1475G>A (p.Trp492Ter)
|
|
|
NM_005609.4(PYGM):c.1620+1G>A
|
rs1256894448
|
|
NM_005609.4(PYGM):c.1636_1639del (p.Phe546fs)
|
|
|
NM_005609.4(PYGM):c.164_168del (p.Ala55fs)
|
rs780193588
|
|
NM_005609.4(PYGM):c.1717G>T (p.Glu573Ter)
|
rs752848974
|
|
NM_005609.4(PYGM):c.1769G>A (p.Arg590His)
|
|
|
NM_005609.4(PYGM):c.1828-1G>A
|
|
|
NM_005609.4(PYGM):c.1828-1G>T
|
|
|
NM_005609.4(PYGM):c.194dup (p.Arg67fs)
|
|
|
NM_005609.4(PYGM):c.1969+1G>A
|
|
|
NM_005609.4(PYGM):c.1969+1G>C
|
|
|
NM_005609.4(PYGM):c.1979C>A (p.Ala660Asp)
|
|
|
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del)
|
rs527236147
|
|
NM_005609.4(PYGM):c.2177+1G>A
|
rs751875471
|
|
NM_005609.4(PYGM):c.2177+1G>T
|
|
|
NM_005609.4(PYGM):c.217C>T (p.Gln73Ter)
|
rs1057517361
|
|
NM_005609.4(PYGM):c.2199C>G (p.Tyr733Ter)
|
rs140102591
|
|
NM_005609.4(PYGM):c.21_28dup (p.Lys10fs)
|
rs770037766
|
|
NM_005609.4(PYGM):c.2259dup (p.Lys754fs)
|
rs1565531453
|
|
NM_005609.4(PYGM):c.2262del (p.Lys754fs)
|
rs398124210
|
|
NM_005609.4(PYGM):c.2274del (p.Phe759fs)
|
|
|
NM_005609.4(PYGM):c.2313-1G>A
|
|
|
NM_005609.4(PYGM):c.2363_2366del (p.Val788fs)
|
rs1565531128
|
|
NM_005609.4(PYGM):c.2379+1G>A
|
|
|
NM_005609.4(PYGM):c.2379+2_2379+3delinsAT
|
rs2135823216
|
|
NM_005609.4(PYGM):c.2392T>A (p.Trp798Arg)
|
rs119103258
|
|
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg)
|
rs119103258
|
|
NM_005609.4(PYGM):c.247A>T (p.Ile83Phe)
|
|
|
NM_005609.4(PYGM):c.251_261del (p.Tyr84fs)
|
rs1057516329
|
|
NM_005609.4(PYGM):c.255C>A (p.Tyr85Ter)
|
rs527236146
|
|
NM_005609.4(PYGM):c.260_261del (p.Ser87fs)
|
rs757762109
|
|
NM_005609.4(PYGM):c.403G>A (p.Gly135Arg)
|
rs780246932
|
|
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp)
|
rs367990192
|
|
NM_005609.4(PYGM):c.425-2A>G
|
rs752851284
|
|
NM_005609.4(PYGM):c.472dup (p.Tyr158fs)
|
|
|
NM_005609.4(PYGM):c.501dup (p.Asn168Ter)
|
rs1555136390
|
|
NM_005609.4(PYGM):c.505C>T (p.Gln169Ter)
|
|
|
NM_005609.4(PYGM):c.506AGA[1] (p.Lys170del)
|
rs764823441
|
|
NM_005609.4(PYGM):c.528+2T>G
|
rs1057516468
|
|
NM_005609.4(PYGM):c.580del (p.Arg194fs)
|
|
|
NM_005609.4(PYGM):c.632del (p.Ser211fs)
|
rs759015176
|
|
NM_005609.4(PYGM):c.658_659del (p.Gln220fs)
|
rs766199191
|
|
NM_005609.4(PYGM):c.677_681dup (p.Asp228fs)
|
|
|
NM_005609.4(PYGM):c.682del (p.Asp228fs)
|
rs2058388882
|
|
NM_005609.4(PYGM):c.735G>A (p.Trp245Ter)
|
|
|
NM_005609.4(PYGM):c.772+2T>A
|
|
|
NM_005609.4(PYGM):c.772+2_772+3del
|
|
|
NM_005609.4(PYGM):c.839_843del (p.Leu280fs)
|
|
|
NM_005609.4(PYGM):c.889G>T (p.Glu297Ter)
|
|
|
NM_005609.4(PYGM):c.999+1G>A
|
|
|
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.177+2T>C
|
rs779221957
|
|
NM_006279.5(ST3GAL3):c.118+39G>T
|
rs766784665
|
|
NM_006516.4(SLC2A1):c.1126G>A (p.Val376Met)
|
rs796053260
|
|
NM_006516.4(SLC2A1):c.1147C>T (p.Pro383Ser)
|
rs1643442833
|
|
NM_006516.4(SLC2A1):c.1348T>A (p.Phe450Ile)
|
rs1216296247
|
|
NM_006516.4(SLC2A1):c.141A>T (p.Thr47=)
|
rs150863093
|
|
NM_006516.4(SLC2A1):c.19-2A>G
|
rs796053272
|
|
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys)
|
rs80359818
|
|
NM_006516.4(SLC2A1):c.679+3A>G
|
|
|
NM_006516.4(SLC2A1):c.724C>T (p.Gln242Ter)
|
rs794729221
|
|
NM_006516.4(SLC2A1):c.806G>A (p.Arg269His)
|
rs1411827478
|
|
NM_006516.4(SLC2A1):c.988C>T (p.Arg330Ter)
|
|
|
NM_006618.5(KDM5B):c.1313T>C (p.Phe438Ser)
|
rs1656013992
|
|
NM_006618.5(KDM5B):c.2807A>T (p.Asp936Val)
|
rs1655336497
|
|
NM_006721.4(ADK):c.741T>A (p.Phe247Leu)
|
rs786205458
|
|
NM_006755.2(TALDO1):c.330-10_330delinsAGA
|
rs796249314
|
|
NM_006755.2(TALDO1):c.793del (p.Gln265fs)
|
rs727502867
|
|
NM_006755.2(TALDO1):c.888G>A (p.Trp296Ter)
|
rs1863010811
|
|
NM_006765.4(TUSC3):c.44G>A (p.Arg15Gln)
|
|
|
NM_006859.4(LIAS):c.152G>A (p.Gly51Asp)
|
rs1191295540
|
|
NM_006859.4(LIAS):c.76A>G (p.Arg26Gly)
|
rs773069554
|
|
NM_006895.3(HNMT):c.317C>T (p.Ser106Leu)
|
rs755441595
|
|
NM_012203.2(GRHPR):c.101G>A (p.Trp34Ter)
|
|
|
NM_012203.2(GRHPR):c.102_112del (p.Trp34_Glu38delinsTer)
|
|
|
NM_012203.2(GRHPR):c.103del (p.Asp35fs)
|
rs80356708
|
|
NM_012203.2(GRHPR):c.175del (p.Leu59fs)
|
|
|
NM_012203.2(GRHPR):c.228dup (p.Val77fs)
|
rs1057517238
|
|
NM_012203.2(GRHPR):c.251del (p.Gly84fs)
|
|
|
NM_012203.2(GRHPR):c.271del (p.Asp91fs)
|
|
|
NM_012203.2(GRHPR):c.337G>T (p.Glu113Ter)
|
rs180177307
|
|
NM_012203.2(GRHPR):c.404+3_404+6del
|
rs180177309
|
|
NM_012203.2(GRHPR):c.441_442del (p.Cys147fs)
|
rs1057517026
|
|
NM_012203.2(GRHPR):c.493+2T>A
|
rs180177313
|
|
NM_012203.2(GRHPR):c.589del (p.Ala197fs)
|
rs1564300408
|
|
NM_012203.2(GRHPR):c.599-1G>A
|
|
|
NM_012203.2(GRHPR):c.599-1G>C
|
rs1422977131
|
|
NM_012203.2(GRHPR):c.617_671del (p.Ala206fs)
|
rs1564300888
|
|
NM_012203.2(GRHPR):c.626C>T (p.Ser209Phe)
|
|
|
NM_012203.2(GRHPR):c.675_676del (p.Cys226fs)
|
|
|
NM_012203.2(GRHPR):c.737dup
|
|
|
NM_012203.2(GRHPR):c.779dup (p.Ser260fs)
|
|
|
NM_012203.2(GRHPR):c.83+1G>A
|
|
|
NM_012203.2(GRHPR):c.83+1G>C
|
rs1822898131
|
|
NM_012203.2(GRHPR):c.863del (p.Cys288fs)
|
rs1554748598
|
|
NM_012203.2(GRHPR):c.865+1del
|
|
|
NM_012203.2(GRHPR):c.865+2T>C
|
|
|
NM_012203.2(GRHPR):c.866_867del (p.Val289fs)
|
rs180177321
|
|
NM_012203.2(GRHPR):c.867_870dup (p.Leu291fs)
|
rs1554749639
|
|
NM_012203.2(GRHPR):c.934A>G (p.Asn312Asp)
|
rs180177324
|
|
NM_012203.2(GRHPR):c.94_97dup (p.Gln33fs)
|
|
|
NM_012434.5(SLC17A5):c.1001C>G (p.Pro334Arg)
|
rs119491110
|
|
NM_012434.5(SLC17A5):c.1111+1G>T
|
rs777862172
|
|
NM_012434.5(SLC17A5):c.1260-2A>C
|
|
|
NM_012434.5(SLC17A5):c.1341del (p.Thr448fs)
|
|
|
NM_012434.5(SLC17A5):c.221T>G (p.Leu74Ter)
|
|
|
NM_012434.5(SLC17A5):c.254del (p.Glu85fs)
|
|
|
NM_012434.5(SLC17A5):c.286C>T (p.Gln96Ter)
|
|
|
NM_012434.5(SLC17A5):c.289dup (p.Thr97fs)
|
|
|
NM_012434.5(SLC17A5):c.294_310del
|
|
|
NM_012434.5(SLC17A5):c.308G>A (p.Trp103Ter)
|
|
|
NM_012434.5(SLC17A5):c.409del (p.Met137fs)
|
rs794729653
|
|
NM_012434.5(SLC17A5):c.43G>T (p.Glu15Ter)
|
rs727504157
|
|
NM_012434.5(SLC17A5):c.609dup (p.Ala204fs)
|
|
|
NM_012434.5(SLC17A5):c.619C>T (p.Gln207Ter)
|
rs1769021763
|
|
NM_012434.5(SLC17A5):c.693del (p.Phe233fs)
|
rs1057516862
|
|
NM_012434.5(SLC17A5):c.699del (p.Phe233fs)
|
rs779548058
|
|
NM_012434.5(SLC17A5):c.700+2T>C
|
rs1440688652
|
|
NM_012434.5(SLC17A5):c.701-1G>A
|
|
|
NM_012434.5(SLC17A5):c.735dup (p.Trp246fs)
|
|
|
NM_012434.5(SLC17A5):c.738G>A (p.Trp246Ter)
|
rs755923873
|
|
NM_012434.5(SLC17A5):c.790G>T (p.Glu264Ter)
|
|
|
NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del)
|
rs386833994
|
|
NM_012434.5(SLC17A5):c.819+1G>A
|
rs1057517028
|
|
NM_012434.5(SLC17A5):c.846_849del (p.Trp282fs)
|
|
|
NM_012434.5(SLC17A5):c.905del (p.Asn302fs)
|
rs771156053
|
|
NM_012434.5(SLC17A5):c.94+2T>A
|
rs1769984400
|
|
NM_012434.5(SLC17A5):c.95-1G>A
|
|
|
NM_012434.5(SLC17A5):c.979-1G>T
|
|
|
NM_012434.5(SLC17A5):c.998del (p.Leu333fs)
|
rs779494716
|
|
NM_014026.6(DCPS):c.791G>T (p.Arg264Leu)
|
rs140377449
|
|
NM_014415.4(ZBTB11):c.799C>T (p.Leu267Phe)
|
rs1436155983
|
|
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.2724G>T (p.Thr908=)
|
rs377530882
|
|
NM_015028.4(TNIK):c.2729G>A (p.Gly910Glu)
|
rs35090763
|
|
NM_015275.3(WASHC4):c.971T>C (p.Leu324Ser)
|
rs1881275367
|
|
NM_016219.5(MAN1B1):c.1028A>G (p.Tyr343Cys)
|
rs1038179177
|
|
NM_016219.5(MAN1B1):c.1444C>T (p.Gln482Ter)
|
rs1831100789
|
|
NM_016219.5(MAN1B1):c.1445+2_1445+5del
|
rs1831100970
|
|
NM_016219.5(MAN1B1):c.1680C>G (p.Asn560Lys)
|
rs1017935955
|
|
NM_016219.5(MAN1B1):c.1808G>A (p.Ser603Asn)
|
rs929390325
|
|
NM_016219.5(MAN1B1):c.994A>G (p.Thr332Ala)
|
rs546612497
|
|
NM_016302.4(CRBN):c.1171T>C (p.Cys391Arg)
|
rs797045036
|
|
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.641C>G (p.Ser214Ter)
|
rs1575094649
|
|
NM_016302.4(CRBN):c.94G>A (p.Glu32Lys)
|
|
|
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.748+1G>T
|
rs876657679
|
|
NM_017721.5(CC2D1A):c.992C>T (p.Thr331Ile)
|
rs781498477
|
|
NM_017755.6(NSUN2):c.1165C>T (p.Arg389Ter)
|
rs1377452635
|
|
NM_017755.6(NSUN2):c.1594C>G (p.Pro532Ala)
|
rs1736795903
|
|
NM_017755.6(NSUN2):c.1639A>G (p.Asn547Asp)
|
|
|
NM_017755.6(NSUN2):c.1725_1728del (p.Ser575fs)
|
rs762288077
|
|
NM_017755.6(NSUN2):c.2032T>G (p.Cys678Gly)
|
rs747908747
|
|
NM_017755.6(NSUN2):c.2045G>A (p.Gly682Glu)
|
rs1736492714
|
|
NM_017755.6(NSUN2):c.604A>G (p.Met202Val)
|
rs1737468532
|
|
NM_017755.6(NSUN2):c.767G>A (p.Arg256Lys)
|
rs1456146368
|
|
NM_018255.4(ELP2):c.1239A>C (p.Arg413Ser)
|
rs2090517565
|
|
NM_018255.4(ELP2):c.293dup (p.Leu98fs)
|
rs529659464
|
|
NM_018297.4(NGLY1):c.1764_1785del (p.Asp588fs)
|
rs2125442722
|
|
NM_020066.5(FMN2):c.1244C>T (p.Thr415Ile)
|
rs200347646
|
|
NM_020066.5(FMN2):c.1550del (p.Pro517fs)
|
rs1390970926
|
|
NM_020066.5(FMN2):c.1618C>T (p.Arg540Ter)
|
rs1247510585
|
|
NM_020066.5(FMN2):c.3131C>T (p.Pro1044Leu)
|
rs202165125
|
|
NM_020066.5(FMN2):c.884C>T (p.Ser295Phe)
|
|
|
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_024036.5(LRFN4):c.1882G>T (p.Glu628Ter)
|
rs1230803568
|
|
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.653G>C (p.Arg218Pro)
|
rs185682596
|
|
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_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.1069T>C (p.Trp357Arg)
|
rs747024084
|
|
NM_024989.4(PGAP1):c.1882A>G (p.Thr628Ala)
|
rs1334582239
|
|
NM_024989.4(PGAP1):c.2128T>C (p.Ser710Pro)
|
rs1700574769
|
|
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.41G>A (p.Ser14Asn)
|
rs1471676178
|
|
NM_032808.7(LINGO1):c.1406A>G (p.Lys469Arg)
|
rs868551107
|
|
NM_138775.3(ALKBH8):c.982C>T (p.Arg328Ter)
|
|
|
NM_145262.4(GLYCTK):c.550C>T (p.Pro184Ser)
|
rs1379123977
|
|
NM_152419.3(HGSNAT):c.1457G>T (p.Gly486Val)
|
rs1804622640
|
|
NM_152419.3(HGSNAT):c.1856G>C (p.Trp619Ser)
|
rs1563388121
|
|
NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp)
|
rs587777732
|
|
NM_198586.3(NHLRC1):c.368G>A (p.Trp123Ter)
|
rs1783750860
|
|
NM_198586.3(NHLRC1):c.647_649del (p.Ser216del)
|
|
|
NM_198586.3(NHLRC1):c.716T>C (p.Leu239Pro)
|
|
|