NM_138413.4(HOGA1):c.212-21A>G
|
rs11817730
|
0.19877
|
NM_000154.2(GALK1):c.1108-40C>T
|
rs743554
|
0.16712
|
NM_138413.4(HOGA1):c.700+67G>A
|
rs2297643
|
0.16278
|
NM_000155.4(GALT):c.940A>G (p.Asn314Asp)
|
rs2070074
|
0.07150
|
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=)
|
rs5216
|
0.01521
|
NM_000202.8(IDS):c.641C>T (p.Thr214Met)
|
rs61736892
|
0.01492
|
NM_000642.3(AGL):c.1612-24C>A
|
rs115666491
|
0.01263
|
NM_000289.6(PFKM):c.2087G>A (p.Arg696His)
|
rs41291971
|
0.01088
|
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg)
|
rs34885143
|
0.01036
|
NM_000512.5(GALNS):c.*3C>G
|
rs77826920
|
0.01005
|
NM_000642.3(AGL):c.1481G>A (p.Arg494His)
|
rs141043166
|
0.00743
|
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg)
|
rs148632988
|
0.00633
|
NM_000108.5(DLD):c.543A>T (p.Ile181=)
|
rs61749952
|
0.00461
|
NM_000512.5(GALNS):c.359C>T (p.Ser120Leu)
|
rs112454391
|
0.00404
|
NM_000152.5(GAA):c.447G>A (p.Thr149=)
|
rs2289536
|
0.00362
|
NM_000528.4(MAN2B1):c.844C>T (p.Pro282Ser)
|
rs45576136
|
0.00296
|
NM_000152.5(GAA):c.917C>T (p.Ser306Leu)
|
rs138097673
|
0.00292
|
NM_001164277.2(SLC37A4):c.968C>T (p.Thr323Ile)
|
rs202209699
|
0.00273
|
NM_006516.4(SLC2A1):c.1296C>T (p.Tyr432=)
|
rs75485205
|
0.00267
|
NM_000158.4(GBE1):c.405C>T (p.Leu135=)
|
rs139882066
|
0.00259
|
NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu)
|
rs117843968
|
0.00237
|
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val)
|
rs139570786
|
0.00232
|
NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile)
|
rs74360232
|
0.00215
|
NM_000642.3(AGL):c.2522C>T (p.Ser841Phe)
|
rs150441555
|
0.00209
|
NM_000199.5(SGSH):c.1283G>A (p.Arg428His)
|
rs144862290
|
0.00186
|
NM_006516.4(SLC2A1):c.27G>A (p.Thr9=)
|
rs34025424
|
0.00176
|
NM_005609.4(PYGM):c.924C>T (p.Ile308=)
|
rs139726186
|
0.00175
|
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln)
|
rs150734270
|
0.00173
|
NM_000642.3(AGL):c.1885G>A (p.Glu629Lys)
|
rs146041189
|
0.00160
|
NM_000642.3(AGL):c.3764A>G (p.Asn1255Ser)
|
rs138134718
|
0.00159
|
NM_001370658.1(BTD):c.201C>T (p.Asn67=)
|
rs147057169
|
0.00156
|
NM_000642.3(AGL):c.1875G>T (p.Thr625=)
|
rs141944878
|
0.00143
|
NM_000528.4(MAN2B1):c.1822G>A (p.Glu608Lys)
|
rs145062583
|
0.00139
|
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys)
|
rs141212446
|
0.00132
|
NM_012203.2(GRHPR):c.286C>T (p.Arg96Cys)
|
rs78920863
|
0.00130
|
NM_000158.4(GBE1):c.1521T>C (p.Thr507=)
|
rs372821643
|
0.00125
|
NM_000642.3(AGL):c.1810T>G (p.Phe604Val)
|
rs138105395
|
0.00125
|
NM_000642.3(AGL):c.968G>A (p.Arg323Gln)
|
rs139399527
|
0.00123
|
NM_000035.4(ALDOB):c.*12C>T
|
rs201867948
|
0.00118
|
NM_000152.5(GAA):c.1830C>T (p.Ala610=)
|
rs61736896
|
0.00118
|
NM_000152.5(GAA):c.915G>A (p.Gly305=)
|
rs150343359
|
0.00113
|
NM_000199.5(SGSH):c.1002C>T (p.Ala334=)
|
rs145596938
|
0.00113
|
NM_000642.3(AGL):c.3431T>A (p.Ile1144Asn)
|
rs2230308
|
0.00113
|
NM_000199.5(SGSH):c.390C>T (p.Thr130=)
|
rs111761143
|
0.00105
|
NM_006516.4(SLC2A1):c.507C>T (p.Leu169=)
|
rs115541691
|
0.00102
|
NM_000152.5(GAA):c.726G>A (p.Ala242=)
|
rs148578399
|
0.00101
|
NM_012434.5(SLC17A5):c.85G>A (p.Ala29Thr)
|
rs141463026
|
0.00098
|
NM_000199.5(SGSH):c.1446C>T (p.Ala482=)
|
rs113679696
|
0.00097
|
NM_000512.5(GALNS):c.1247T>C (p.Ile416Thr)
|
rs142822371
|
0.00093
|
NM_000512.5(GALNS):c.303C>T (p.Asn101=)
|
rs79146426
|
0.00092
|
NM_000528.4(MAN2B1):c.455A>G (p.Asn152Ser)
|
rs200164758
|
0.00088
|
NM_001370658.1(BTD):c.1041C>T (p.Gly347=)
|
rs142421934
|
0.00086
|
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser)
|
rs114468011
|
0.00081
|
NM_000512.5(GALNS):c.324C>T (p.Tyr108=)
|
rs150582627
|
0.00077
|
NM_000528.4(MAN2B1):c.1521G>T (p.Ala507=)
|
rs143318498
|
0.00077
|
NM_000289.6(PFKM):c.453G>A (p.Thr151=)
|
rs144370737
|
0.00071
|
NM_000512.5(GALNS):c.858G>A (p.Thr286=)
|
rs140299014
|
0.00068
|
NM_006516.4(SLC2A1):c.1437C>T (p.Pro479=)
|
rs146879902
|
0.00065
|
NM_000642.3(AGL):c.334A>G (p.Ile112Val)
|
rs147024351
|
0.00064
|
NM_000202.8(IDS):c.396G>A (p.Ser132=)
|
rs147108245
|
0.00063
|
NM_000528.4(MAN2B1):c.2625C>T (p.Gly875=)
|
rs368834616
|
0.00056
|
NM_000199.5(SGSH):c.1209C>T (p.Tyr403=)
|
rs115750405
|
0.00053
|
NM_000642.3(AGL):c.1908A>G (p.Ser636=)
|
rs144723143
|
0.00051
|
NM_000642.3(AGL):c.3822C>T (p.Ile1274=)
|
rs143885684
|
0.00049
|
NM_006516.4(SLC2A1):c.864C>T (p.Asn288=)
|
rs150384629
|
0.00047
|
NM_000035.4(ALDOB):c.619G>C (p.Glu207Gln)
|
rs3739721
|
0.00046
|
NM_000528.4(MAN2B1):c.1437G>T (p.Ala479=)
|
rs139435774
|
0.00045
|
NM_000199.5(SGSH):c.1317C>T (p.Tyr439=)
|
rs146522699
|
0.00044
|
NM_012434.5(SLC17A5):c.957C>A (p.Ile319=)
|
rs147732875
|
0.00041
|
NM_000152.5(GAA):c.2109C>T (p.Tyr703=)
|
rs150728610
|
0.00038
|
NM_000152.5(GAA):c.257C>G (p.Pro86Arg)
|
rs2229222
|
0.00038
|
NM_000152.5(GAA):c.600C>T (p.Val200=)
|
rs150895924
|
0.00038
|
NM_000642.3(AGL):c.2088C>T (p.Ser696=)
|
rs144491501
|
0.00034
|
NM_000642.3(AGL):c.3589-19C>T
|
rs368244330
|
0.00034
|
NM_002076.4(GNS):c.4C>T (p.Arg2Trp)
|
rs200441930
|
0.00033
|
NM_000512.5(GALNS):c.121-4G>A
|
rs200008960
|
0.00030
|
NM_000642.3(AGL):c.4331A>G (p.Asn1444Ser)
|
rs143815159
|
0.00029
|
NM_000642.3(AGL):c.82+4A>C
|
rs765098686
|
0.00029
|
NM_012203.2(GRHPR):c.468C>T (p.Val156=)
|
rs142509393
|
0.00026
|
NM_000528.4(MAN2B1):c.1158G>A (p.Gln386=)
|
rs112829030
|
0.00025
|
NM_000642.3(AGL):c.2219A>G (p.His740Arg)
|
rs562215810
|
0.00025
|
NM_000199.5(SGSH):c.780C>T (p.Ala260=)
|
rs530964770
|
0.00023
|
NM_000152.5(GAA):c.1599C>T (p.Cys533=)
|
rs142766716
|
0.00022
|
NM_000512.5(GALNS):c.771C>T (p.Ala257=)
|
rs370586494
|
0.00021
|
NM_000152.5(GAA):c.2253C>T (p.Leu751=)
|
rs140441758
|
0.00020
|
NM_000152.5(GAA):c.693-4G>T
|
rs200088236
|
0.00019
|
NM_000202.8(IDS):c.104A>G (p.Asp35Gly)
|
rs144081417
|
0.00019
|
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln)
|
rs147474255
|
0.00018
|
NM_000152.5(GAA):c.1848C>T (p.Asp616=)
|
rs377175810
|
0.00017
|
NM_006516.4(SLC2A1):c.972+17T>A
|
rs202140308
|
0.00017
|
NM_000528.4(MAN2B1):c.2973G>A (p.Thr991=)
|
rs148945108
|
0.00016
|
NM_000642.3(AGL):c.3700+14A>G
|
rs368141566
|
0.00016
|
NM_000642.3(AGL):c.4575T>A (p.Ile1525=)
|
rs372116308
|
0.00016
|
NM_006516.4(SLC2A1):c.276-11C>T
|
rs376422395
|
0.00016
|
NM_006516.4(SLC2A1):c.885G>A (p.Thr295=)
|
rs144685583
|
0.00016
|
NM_000152.5(GAA):c.1593C>T (p.Asp531=)
|
rs138732016
|
0.00014
|
NM_000152.5(GAA):c.2052G>A (p.Pro684=)
|
rs546463058
|
0.00014
|
NM_000642.3(AGL):c.846+14G>A
|
rs376827010
|
0.00014
|
NM_000152.5(GAA):c.1860C>T (p.Ser620=)
|
rs370369972
|
0.00012
|
NM_000152.5(GAA):c.663C>T (p.Ile221=)
|
rs142878958
|
0.00012
|
NM_000199.5(SGSH):c.534C>T (p.His178=)
|
rs139484283
|
0.00012
|
NM_000642.3(AGL):c.3231G>A (p.Lys1077=)
|
rs138063386
|
0.00011
|
NM_000152.5(GAA):c.1758G>A (p.Ala586=)
|
rs79795428
|
0.00010
|
NM_000152.5(GAA):c.2319C>T (p.Tyr773=)
|
rs377402848
|
0.00010
|
NM_000642.3(AGL):c.1284-4A>G
|
rs372612377
|
0.00010
|
NM_006516.4(SLC2A1):c.312C>G (p.Phe104Leu)
|
rs76672402
|
0.00010
|
NM_000152.5(GAA):c.1482A>G (p.Thr494=)
|
rs202064115
|
0.00009
|
NM_000152.5(GAA):c.297C>T (p.Thr99=)
|
rs771846178
|
0.00009
|
NM_000202.8(IDS):c.1227G>A (p.Thr409=)
|
rs201905166
|
0.00009
|
NM_000512.5(GALNS):c.857C>T (p.Thr286Met)
|
rs137927658
|
0.00009
|
NM_000528.4(MAN2B1):c.744G>A (p.Pro248=)
|
rs3745649
|
0.00009
|
NM_000642.3(AGL):c.3696C>T (p.Asp1232=)
|
rs143076729
|
0.00009
|
NM_006516.4(SLC2A1):c.1282C>T (p.Leu428=)
|
rs137868589
|
0.00009
|
NM_006516.4(SLC2A1):c.18+14C>T
|
rs970369883
|
0.00009
|
NM_000152.5(GAA):c.2157G>A (p.Ala719=)
|
rs201523530
|
0.00007
|
NM_000642.3(AGL):c.3668G>A (p.Gly1223Asp)
|
rs202046937
|
0.00007
|
NM_000642.3(AGL):c.4164C>G (p.Ala1388=)
|
rs142809832
|
0.00007
|
NM_000152.5(GAA):c.1143C>T (p.Thr381=)
|
rs111832449
|
0.00006
|
NM_000152.5(GAA):c.1725C>T (p.Tyr575=)
|
rs112517802
|
0.00006
|
NM_000152.5(GAA):c.2800-11C>G
|
rs374571499
|
0.00006
|
NM_000152.5(GAA):c.318C>T (p.Arg106=)
|
rs762542246
|
0.00006
|
NM_000199.5(SGSH):c.1302G>A (p.Ala434=)
|
rs376787615
|
0.00006
|
NM_000199.5(SGSH):c.432C>T (p.Ser144=)
|
rs200194908
|
0.00006
|
NM_000512.5(GALNS):c.1071G>A (p.Pro357=)
|
rs374619390
|
0.00006
|
NM_000528.4(MAN2B1):c.2007G>A (p.Pro669=)
|
rs762152042
|
0.00006
|
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg)
|
rs754733253
|
0.00006
|
NM_000642.3(AGL):c.103T>C (p.Leu35=)
|
rs370307706
|
0.00006
|
NM_000642.3(AGL):c.293+3A>G
|
rs375459662
|
0.00006
|
NM_000642.3(AGL):c.609A>G (p.Lys203=)
|
rs186709388
|
0.00006
|
NM_006516.4(SLC2A1):c.1005C>G (p.Thr335=)
|
rs763664146
|
0.00006
|
NM_006516.4(SLC2A1):c.343C>T (p.Leu115=)
|
rs539490455
|
0.00006
|
NM_000046.5(ARSB):c.658A>G (p.Ile220Val)
|
rs202130413
|
0.00005
|
NM_000152.5(GAA):c.1425G>A (p.Pro475=)
|
rs753140491
|
0.00005
|
NM_000642.3(AGL):c.1065G>A (p.Thr355=)
|
rs764914308
|
0.00005
|
NM_000642.3(AGL):c.261A>G (p.Gln87=)
|
rs370304606
|
0.00005
|
NM_000152.5(GAA):c.1416C>T (p.Thr472=)
|
rs368492669
|
0.00004
|
NM_000152.5(GAA):c.1629C>T (p.Tyr543=)
|
rs372193105
|
0.00004
|
NM_000199.5(SGSH):c.1134C>T (p.Ser378=)
|
rs771257931
|
0.00004
|
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp)
|
rs761385192
|
0.00004
|
NM_000528.4(MAN2B1):c.1845G>A (p.Thr615=)
|
rs369071579
|
0.00004
|
NM_000528.4(MAN2B1):c.282C>T (p.His94=)
|
rs766810849
|
0.00004
|
NM_006516.4(SLC2A1):c.1435C>A (p.Pro479Thr)
|
rs749067830
|
0.00004
|
NM_006516.4(SLC2A1):c.180G>A (p.Thr60=)
|
rs780638574
|
0.00004
|
NM_006516.4(SLC2A1):c.606C>T (p.Ile202=)
|
rs779779804
|
0.00004
|
NM_006516.4(SLC2A1):c.657C>T (p.Asn219=)
|
rs534113895
|
0.00004
|
NM_006516.4(SLC2A1):c.822C>T (p.Ile274=)
|
rs368242382
|
0.00004
|
NM_000152.5(GAA):c.18G>C (p.Pro6=)
|
rs774703637
|
0.00003
|
NM_000152.5(GAA):c.2739C>G (p.Pro913=)
|
rs370765733
|
0.00003
|
NM_000642.3(AGL):c.2814T>G (p.Gly938=)
|
rs147590282
|
0.00003
|
NM_000642.3(AGL):c.3345A>T (p.Gly1115=)
|
rs758265909
|
0.00003
|
NM_006516.4(SLC2A1):c.339G>A (p.Ser113=)
|
rs755571737
|
0.00003
|
NM_006516.4(SLC2A1):c.624C>G (p.Pro208=)
|
rs778522408
|
0.00003
|
NM_000152.5(GAA):c.1083G>A (p.Pro361=)
|
rs781379047
|
0.00002
|
NM_000152.5(GAA):c.2668G>C (p.Val890Leu)
|
rs377286472
|
0.00002
|
NM_000152.5(GAA):c.705G>A (p.Thr235=)
|
rs2304846
|
0.00002
|
NM_000528.4(MAN2B1):c.1587G>T (p.Pro529=)
|
rs771761940
|
0.00002
|
NM_000528.4(MAN2B1):c.2469C>T (p.Arg823=)
|
rs561895292
|
0.00002
|
NM_000642.3(AGL):c.1900-6T>C
|
rs749096703
|
0.00002
|
NM_000642.3(AGL):c.2682-7T>C
|
rs375256646
|
0.00002
|
NM_000642.3(AGL):c.3362+9G>A
|
rs747485058
|
0.00002
|
NM_000642.3(AGL):c.4539C>T (p.Phe1513=)
|
rs752519483
|
0.00002
|
NM_000642.3(AGL):c.959-15T>C
|
rs1159446395
|
0.00002
|
NM_000642.3(AGL):c.966G>A (p.Arg322=)
|
rs199905460
|
0.00002
|
NM_006516.4(SLC2A1):c.1107C>T (p.Ile369=)
|
rs145962512
|
0.00002
|
NM_006516.4(SLC2A1):c.495C>T (p.Val165=)
|
rs181115612
|
0.00002
|
NM_006516.4(SLC2A1):c.708C>T (p.Asp236=)
|
rs566497194
|
0.00002
|
NM_006516.4(SLC2A1):c.798C>T (p.Pro266=)
|
rs201996220
|
0.00002
|
NM_000152.5(GAA):c.1884G>C (p.Val628=)
|
rs780130036
|
0.00001
|
NM_000152.5(GAA):c.615G>A (p.Pro205=)
|
rs141427808
|
0.00001
|
NM_000152.5(GAA):c.692+9T>C
|
rs367661167
|
0.00001
|
NM_000152.5(GAA):c.834G>A (p.Leu278=)
|
rs776314424
|
0.00001
|
NM_000154.2(GALK1):c.216G>A (p.Leu72=)
|
rs752773767
|
0.00001
|
NM_000199.5(SGSH):c.798A>G (p.Thr266=)
|
rs199562202
|
0.00001
|
NM_000199.5(SGSH):c.816C>T (p.Ser272=)
|
rs200485062
|
0.00001
|
NM_000199.5(SGSH):c.88+8C>T
|
rs75720127
|
0.00001
|
NM_000199.5(SGSH):c.942C>T (p.Ser314=)
|
rs759810426
|
0.00001
|
NM_000512.5(GALNS):c.567-3C>T
|
rs549597016
|
0.00001
|
NM_000528.4(MAN2B1):c.1713C>T (p.Pro571=)
|
rs747081586
|
0.00001
|
NM_000528.4(MAN2B1):c.2437-5C>G
|
rs200695002
|
0.00001
|
NM_000528.4(MAN2B1):c.2661G>A (p.Thr887=)
|
rs775212002
|
0.00001
|
NM_000528.4(MAN2B1):c.597C>T (p.Gly199=)
|
rs200872797
|
0.00001
|
NM_000528.4(MAN2B1):c.855C>T (p.Pro285=)
|
rs139218045
|
0.00001
|
NM_000642.3(AGL):c.1082+4T>A
|
rs781204563
|
0.00001
|
NM_000642.3(AGL):c.2337T>C (p.Ala779=)
|
rs928189171
|
0.00001
|
NM_000642.3(AGL):c.2571A>G (p.Gln857=)
|
rs373619867
|
0.00001
|
NM_000642.3(AGL):c.318C>T (p.Tyr106=)
|
rs376885398
|
0.00001
|
NM_000642.3(AGL):c.3741T>C (p.Phe1247=)
|
rs1279212438
|
0.00001
|
NM_000642.3(AGL):c.83-17_83-16del
|
rs751326594
|
0.00001
|
NM_006516.4(SLC2A1):c.1059C>T (p.Ile353=)
|
rs372092107
|
0.00001
|
NM_006516.4(SLC2A1):c.1069C>T (p.Leu357=)
|
rs755679518
|
0.00001
|
NM_006516.4(SLC2A1):c.1134C>T (p.Phe378=)
|
rs758184335
|
0.00001
|
NM_006516.4(SLC2A1):c.1152C>T (p.Gly384=)
|
rs750237005
|
0.00001
|
NM_006516.4(SLC2A1):c.123G>A (p.Glu41=)
|
rs769414573
|
0.00001
|
NM_006516.4(SLC2A1):c.1297G>A (p.Val433Ile)
|
rs200819771
|
0.00001
|
NM_006516.4(SLC2A1):c.189G>A (p.Thr63=)
|
rs766043826
|
0.00001
|
NM_006516.4(SLC2A1):c.318C>T (p.Ser106=)
|
rs760599149
|
0.00001
|
NM_006516.4(SLC2A1):c.492C>T (p.Ile164=)
|
rs759617721
|
0.00001
|
NM_006516.4(SLC2A1):c.680-16C>T
|
rs752942175
|
0.00001
|
NM_006516.4(SLC2A1):c.696C>T (p.Arg232=)
|
rs770293853
|
0.00001
|
NM_006516.4(SLC2A1):c.939C>T (p.Ser313=)
|
rs775408842
|
0.00001
|
NM_006516.4(SLC2A1):c.957C>A (p.Ala319=)
|
rs1643460439
|
0.00001
|
NM_012434.5(SLC17A5):c.1272C>A (p.Ile424=)
|
rs374241516
|
0.00001
|
NM_012434.5(SLC17A5):c.573C>G (p.Pro191=)
|
rs924683894
|
0.00001
|
NM_000035.4(ALDOB):c.282C>T (p.Phe94=)
|
rs549682194
|
|
NM_000152.5(GAA):c.1536C>T (p.Phe512=)
|
rs143491365
|
|
NM_000152.5(GAA):c.18G>A (p.Pro6=)
|
rs774703637
|
|
NM_000152.5(GAA):c.2647-6G>A
|
rs201525743
|
|
NM_000152.5(GAA):c.2647-71G>C
|
rs4889821
|
|
NM_000152.5(GAA):c.546+8G>A
|
rs200107080
|
|
NM_000199.5(SGSH):c.658G>T (p.Val220Leu)
|
rs150508741
|
|
NM_000199.5(SGSH):c.981G>A (p.Ser327=)
|
rs143223388
|
|
NM_000528.4(MAN2B1):c.1068C>T (p.Pro356=)
|
rs117880912
|
|
NM_000528.4(MAN2B1):c.1167C>T (p.Thr389=)
|
rs762375074
|
|
NM_000528.4(MAN2B1):c.116T>C (p.Leu39Pro)
|
rs1479309756
|
|
NM_000528.4(MAN2B1):c.1383C>T (p.Tyr461=)
|
rs775200333
|
|
NM_000528.4(MAN2B1):c.1398G>A (p.Ala466=)
|
rs774396746
|
|
NM_000528.4(MAN2B1):c.285C>T (p.Ala95=)
|
rs750997069
|
|
NM_000528.4(MAN2B1):c.2865G>A (p.Thr955=)
|
rs148108322
|
|
NM_000528.4(MAN2B1):c.2883C>A (p.Leu961=)
|
rs1376771729
|
|
NM_000642.3(AGL):c.2001+8_2001+9delinsCT
|
rs1064794512
|
|
NM_000642.3(AGL):c.2158-18_2158-16del
|
rs770934299
|
|
NM_000642.3(AGL):c.2565T>C (p.His855=)
|
rs1312742910
|
|
NM_000642.3(AGL):c.3260-14_3260-10dup
|
rs1653309500
|
|
NM_000642.3(AGL):c.3701-5T>G
|
rs1057523410
|
|
NM_000642.3(AGL):c.4119T>C (p.Cys1373=)
|
rs1057521342
|
|
NM_000642.3(AGL):c.4161+11C>G
|
rs886038361
|
|
NM_000642.3(AGL):c.4290T>C (p.Asn1430=)
|
rs886038362
|
|
NM_000642.3(AGL):c.4482-18G>A
|
rs1057521645
|
|
NM_000642.3(AGL):c.4482-19T>C
|
rs370127763
|
|
NM_006516.4(SLC2A1):c.1023C>T (p.Leu341=)
|
rs143588685
|
|
NM_006516.4(SLC2A1):c.1075-14G>A
|
rs777450540
|
|
NM_006516.4(SLC2A1):c.1155C>T (p.Pro385=)
|
rs76860965
|
|
NM_006516.4(SLC2A1):c.1362G>A (p.Glu454=)
|
rs1469205406
|
|
NM_006516.4(SLC2A1):c.312C>T (p.Phe104=)
|
rs76672402
|
|
NM_006516.4(SLC2A1):c.354C>T (p.Ser118=)
|
rs1393465480
|
|
NM_006516.4(SLC2A1):c.684A>G (p.Leu228=)
|
rs2124449097
|
|
NM_006516.4(SLC2A1):c.750G>A (p.Gln250=)
|
rs1553156067
|
|
NM_006516.4(SLC2A1):c.852G>A (p.Leu284=)
|
rs1553156049
|
|
NM_006516.4(SLC2A1):c.945C>T (p.Ile315=)
|
rs780528770
|
|
NM_006516.4(SLC2A1):c.972+20C>G
|
rs781545555
|
|
NM_006516.4(SLC2A1):c.972+7C>G
|
rs1553155998
|
|
NM_012434.5(SLC17A5):c.1176C>T (p.Ala392=)
|
rs372195490
|
|