NM_000203.5(IDUA):c.1174C>T (p.Leu392=)
|
rs201682298
|
0.01139
|
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg)
|
rs34885143
|
0.01036
|
NM_000293.3(PHKB):c.3121C>T (p.Arg1041Trp)
|
rs12918964
|
0.00765
|
NM_005327.7(HADH):c.275T>G (p.Phe92Cys)
|
rs61735992
|
0.00516
|
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu)
|
rs143759519
|
0.00440
|
NM_012434.5(SLC17A5):c.820-3C>T
|
rs12201641
|
0.00436
|
NM_001739.2(CA5A):c.749A>G (p.Glu250Gly)
|
rs146136907
|
0.00428
|
NM_000147.5(FUCA1):c.402G>C (p.Leu134Phe)
|
rs143691289
|
0.00371
|
NM_000203.5(IDUA):c.1293C>T (p.Ala431=)
|
rs559676638
|
0.00298
|
NM_000528.4(MAN2B1):c.844C>T (p.Pro282Ser)
|
rs45576136
|
0.00296
|
NM_000343.4(SLC5A1):c.625G>T (p.Val209Leu)
|
rs150117594
|
0.00264
|
NM_001164277.2(SLC37A4):c.540C>T (p.Ser180=)
|
rs371716153
|
0.00262
|
NM_012434.5(SLC17A5):c.553A>G (p.Met185Val)
|
rs34348416
|
0.00257
|
NM_005908.4(MANBA):c.478C>T (p.Arg160Cys)
|
rs114543305
|
0.00255
|
NM_000035.4(ALDOB):c.799+6G>A
|
rs141888548
|
0.00251
|
NM_002863.5(PYGL):c.611A>G (p.Tyr204Cys)
|
rs34096980
|
0.00245
|
NM_000289.6(PFKM):c.1339C>A (p.Gln447Lys)
|
rs145040928
|
0.00243
|
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg)
|
rs36099971
|
0.00237
|
NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu)
|
rs117843968
|
0.00237
|
NM_016042.4(EXOSC3):c.193G>A (p.Val65Ile)
|
rs62640002
|
0.00231
|
NM_000046.5(ARSB):c.317G>A (p.Arg106His)
|
rs150087888
|
0.00230
|
NM_000147.5(FUCA1):c.778G>A (p.Val260Ile)
|
rs665
|
0.00227
|
NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile)
|
rs74360232
|
0.00215
|
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser)
|
rs149210307
|
0.00212
|
NM_005609.4(PYGM):c.577G>T (p.Ala193Ser)
|
rs77656150
|
0.00209
|
NM_000293.3(PHKB):c.518A>G (p.Asn173Ser)
|
rs139738333
|
0.00205
|
NM_001365304.2(LOC112694756):c.*621+4C>T
|
rs200278984
|
0.00204
|
NM_005327.7(HADH):c.643C>A (p.Pro215Thr)
|
rs140413151
|
0.00198
|
NM_005327.7(HADH):c.456G>T (p.Gln152His)
|
rs1051519
|
0.00195
|
NM_005908.4(MANBA):c.2416-9C>T
|
rs200835097
|
0.00195
|
NM_000152.5(GAA):c.676C>G (p.Leu226Val)
|
rs113085339
|
0.00193
|
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg)
|
rs145169006
|
0.00193
|
NM_005609.4(PYGM):c.330C>T (p.Asp110=)
|
rs114742918
|
0.00189
|
NM_000027.4(AGA):c.436T>G (p.Leu146Val)
|
rs146381591
|
0.00188
|
NM_016042.4(EXOSC3):c.757A>G (p.Ile253Val)
|
rs62640004
|
0.00177
|
NM_000293.3(PHKB):c.400G>A (p.Asp134Asn)
|
rs144486825
|
0.00176
|
NM_000108.5(DLD):c.826A>T (p.Thr276Ser)
|
rs148873419
|
0.00175
|
NM_000528.4(MAN2B1):c.609G>T (p.Glu203Asp)
|
rs139290127
|
0.00175
|
NM_001739.2(CA5A):c.655A>G (p.Thr219Ala)
|
rs148496007
|
0.00175
|
NM_005609.4(PYGM):c.924C>T (p.Ile308=)
|
rs139726186
|
0.00175
|
NM_000199.5(SGSH):c.1337A>G (p.His446Arg)
|
rs148876719
|
0.00172
|
NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile)
|
rs75442795
|
0.00172
|
NM_000293.3(PHKB):c.1574C>A (p.Pro525His)
|
rs79509460
|
0.00165
|
NM_000293.3(PHKB):c.574A>G (p.Ile192Val)
|
rs117218785
|
0.00165
|
NM_000642.3(AGL):c.1885G>A (p.Glu629Lys)
|
rs146041189
|
0.00160
|
NM_005609.4(PYGM):c.1888G>A (p.Val630Met)
|
rs115347245
|
0.00160
|
NM_005609.4(PYGM):c.1924C>T (p.Arg642Cys)
|
rs116180923
|
0.00160
|
NM_000642.3(AGL):c.3764A>G (p.Asn1255Ser)
|
rs138134718
|
0.00159
|
NM_000294.3(PHKG2):c.393G>A (p.Arg131=)
|
rs55751949
|
0.00153
|
NM_016219.5(MAN1B1):c.1173C>T (p.Ser391=)
|
rs145704211
|
0.00151
|
NM_005566.4(LDHA):c.439G>T (p.Ala147Ser)
|
rs116841148
|
0.00148
|
NM_000199.5(SGSH):c.641C>A (p.Ala214Asp)
|
rs74000629
|
0.00143
|
NM_000152.5(GAA):c.1352C>G (p.Pro451Arg)
|
rs7215458
|
0.00140
|
NM_000528.4(MAN2B1):c.1822G>A (p.Glu608Lys)
|
rs145062583
|
0.00139
|
NM_016219.5(MAN1B1):c.272C>T (p.Ala91Val)
|
rs138411911
|
0.00135
|
NM_016219.5(MAN1B1):c.337T>C (p.Phe113Leu)
|
rs147529965
|
0.00135
|
NM_152419.3(HGSNAT):c.1759G>A (p.Glu587Lys)
|
rs202128129
|
0.00134
|
NM_001370658.1(BTD):c.339G>A (p.Pro113=)
|
rs181743799
|
0.00133
|
NM_198586.3(NHLRC1):c.422T>C (p.Val141Ala)
|
rs143537405
|
0.00133
|
NM_000290.4(PGAM2):c.310G>A (p.Ala104Thr)
|
rs150570281
|
0.00132
|
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys)
|
rs141212446
|
0.00132
|
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe)
|
rs142553916
|
0.00131
|
NM_001931.5(DLAT):c.1142A>G (p.Asp381Gly)
|
rs144235197
|
0.00129
|
NM_000262.3(NAGA):c.280G>A (p.Asp94Asn)
|
rs73167107
|
0.00128
|
NM_004130.4(GYG1):c.98G>A (p.Arg33Lys)
|
rs146101365
|
0.00128
|
NM_005609.4(PYGM):c.2286T>G (p.Ile762Met)
|
rs75685607
|
0.00126
|
NM_000158.4(GBE1):c.1521T>C (p.Thr507=)
|
rs372821643
|
0.00125
|
NM_000158.4(GBE1):c.15G>A (p.Met5Ile)
|
rs62267114
|
0.00125
|
NM_000642.3(AGL):c.1810T>G (p.Phe604Val)
|
rs138105395
|
0.00125
|
NM_016042.4(EXOSC3):c.151C>G (p.Arg51Gly)
|
rs114878910
|
0.00125
|
NM_000151.4(G6PC1):c.340+10C>A
|
rs368450665
|
0.00124
|
NM_000340.2(SLC2A2):c.496+10A>T
|
rs5403
|
0.00123
|
NM_000642.3(AGL):c.968G>A (p.Arg323Gln)
|
rs139399527
|
0.00123
|
NM_001008216.2(GALE):c.956G>A (p.Gly319Glu)
|
rs28940885
|
0.00121
|
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser)
|
rs141541387
|
0.00119
|
NM_016219.5(MAN1B1):c.707C>T (p.Pro236Leu)
|
rs147577332
|
0.00118
|
NM_000158.4(GBE1):c.2074G>A (p.Ala692Thr)
|
rs192877602
|
0.00116
|
NM_000404.4(GLB1):c.1285C>T (p.Pro429Ser)
|
rs180869784
|
0.00116
|
NM_000340.2(SLC2A2):c.1087G>T (p.Ala363Ser)
|
rs76362149
|
0.00114
|
NM_000152.5(GAA):c.915G>A (p.Gly305=)
|
rs150343359
|
0.00113
|
NM_000152.5(GAA):c.2415G>A (p.Val805=)
|
rs150536507
|
0.00112
|
NM_001360016.2(G6PD):c.1048G>C (p.Asp350His)
|
rs34193178
|
0.00110
|
NM_000528.4(MAN2B1):c.1110-8C>T
|
rs201690866
|
0.00109
|
NM_002863.5(PYGL):c.603G>T (p.Val201=)
|
rs138364932
|
0.00108
|
NM_198586.3(NHLRC1):c.46A>G (p.Met16Val)
|
rs146636139
|
0.00108
|
NM_000404.4(GLB1):c.623G>A (p.Arg208His)
|
rs111840209
|
0.00106
|
NM_005908.4(MANBA):c.961G>T (p.Val321Phe)
|
rs145367849
|
0.00106
|
NM_000199.5(SGSH):c.181C>T (p.Arg61Cys)
|
rs142309764
|
0.00103
|
NM_001931.5(DLAT):c.628G>A (p.Ala210Thr)
|
rs140678772
|
0.00103
|
NM_000147.5(FUCA1):c.969+5G>C
|
rs115939152
|
0.00101
|
NM_000155.4(GALT):c.919T>A (p.Ser307Thr)
|
rs61735983
|
0.00101
|
NM_000027.4(AGA):c.762C>T (p.Ala254=)
|
rs145465919
|
0.00098
|
NM_003384.3(VRK1):c.175T>G (p.Ser59Ala)
|
rs61736727
|
0.00098
|
NM_000404.4(GLB1):c.1588C>T (p.Arg530Cys)
|
rs371397760
|
0.00095
|
NM_000293.3(PHKB):c.1458+16A>G
|
rs371140883
|
0.00093
|
NM_000512.5(GALNS):c.1247T>C (p.Ile416Thr)
|
rs142822371
|
0.00093
|
NM_000290.4(PGAM2):c.459C>T (p.Cys153=)
|
rs143809043
|
0.00089
|
NM_000108.5(DLD):c.583-3C>T
|
rs186031819
|
0.00088
|
NM_000528.4(MAN2B1):c.455A>G (p.Asn152Ser)
|
rs200164758
|
0.00088
|
NM_001040716.2(PC):c.3342G>A (p.Ala1114=)
|
rs141978731
|
0.00088
|
NM_001739.2(CA5A):c.214A>C (p.Arg72=)
|
rs150841082
|
0.00088
|
NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr)
|
rs147293270
|
0.00087
|
NM_000293.3(PHKB):c.2284G>A (p.Val762Ile)
|
rs56010117
|
0.00087
|
NM_005609.4(PYGM):c.516C>T (p.Ser172=)
|
rs147402432
|
0.00087
|
NM_000035.4(ALDOB):c.543T>G (p.Asn181Lys)
|
rs35885472
|
0.00086
|
NM_000293.3(PHKB):c.2075A>G (p.Lys692Arg)
|
rs142381554
|
0.00084
|
NM_000340.2(SLC2A2):c.1432C>G (p.Leu478Val)
|
rs5397
|
0.00083
|
NM_000404.4(GLB1):c.1426C>T (p.Leu476=)
|
rs113534264
|
0.00083
|
NM_016219.5(MAN1B1):c.1095C>T (p.Ala365=)
|
rs144304981
|
0.00083
|
NM_152419.3(HGSNAT):c.1880A>G (p.Tyr627Cys)
|
rs192857413
|
0.00082
|
NM_000203.5(IDUA):c.408C>T (p.Ala136=)
|
rs138195998
|
0.00081
|
NM_000343.4(SLC5A1):c.1846G>A (p.Gly616Ser)
|
rs61733910
|
0.00081
|
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser)
|
rs114468011
|
0.00081
|
NM_024989.4(PGAP1):c.2287G>A (p.Val763Ile)
|
rs143960563
|
0.00081
|
NM_000108.5(DLD):c.788G>A (p.Arg263His)
|
rs145670503
|
0.00080
|
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr)
|
rs201826605
|
0.00080
|
NM_001040716.2(PC):c.2550C>T (p.Cys850=)
|
rs61749179
|
0.00080
|
NM_152419.3(HGSNAT):c.1752C>T (p.Val584=)
|
rs200678234
|
0.00080
|
NM_002076.4(GNS):c.1453C>G (p.Pro485Ala)
|
rs138790252
|
0.00079
|
NM_005327.7(HADH):c.614G>C (p.Gly205Ala)
|
rs144699575
|
0.00079
|
NM_000289.6(PFKM):c.41T>C (p.Ile14Thr)
|
rs140473672
|
0.00078
|
NM_021957.4(GYS2):c.2072C>T (p.Pro691Leu)
|
rs144564037
|
0.00078
|
NM_000263.4(NAGLU):c.1346G>A (p.Ser449Asn)
|
rs114605439
|
0.00077
|
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_005609.4(PYGM):c.1787A>G (p.Asn596Ser)
|
rs150622626
|
0.00077
|
NM_152419.3(HGSNAT):c.342C>T (p.Asn114=)
|
rs184883937
|
0.00077
|
NM_000340.2(SLC2A2):c.1164G>A (p.Val388=)
|
rs140794946
|
0.00076
|
NM_000340.2(SLC2A2):c.158G>A (p.Arg53Gln)
|
rs145210664
|
0.00076
|
NM_021957.4(GYS2):c.2068G>T (p.Val690Phe)
|
rs148461282
|
0.00076
|
NM_000528.4(MAN2B1):c.419G>A (p.Arg140Gln)
|
rs139281846
|
0.00075
|
NM_000642.3(AGL):c.4214A>G (p.Glu1405Gly)
|
rs28730708
|
0.00075
|
NM_000262.3(NAGA):c.787T>A (p.Leu263Ile)
|
rs140238609
|
0.00074
|
NM_000528.4(MAN2B1):c.874C>T (p.Leu292=)
|
rs141077530
|
0.00074
|
NM_016219.5(MAN1B1):c.2020G>A (p.Asp674Asn)
|
rs181795958
|
0.00074
|
NM_000202.8(IDS):c.336C>T (p.His112=)
|
rs138687038
|
0.00073
|
NM_001164277.2(SLC37A4):c.628T>C (p.Ser210Pro)
|
rs201101662
|
0.00073
|
NM_001164277.2(SLC37A4):c.785+6A>T
|
rs369358436
|
0.00072
|
NM_002863.5(PYGL):c.1981A>G (p.Thr661Ala)
|
rs142483613
|
0.00072
|
NM_001365304.2(LOC112694756):c.*1134-20G>A
|
rs75559164
|
0.00071
|
NM_004130.4(GYG1):c.767A>C (p.Asn256Thr)
|
rs142869401
|
0.00071
|
NM_005566.4(LDHA):c.696G>C (p.Lys232Asn)
|
rs141158742
|
0.00071
|
NM_000292.3(PHKA2):c.2365C>T (p.Pro789Ser)
|
rs138395800
|
0.00068
|
NM_000512.5(GALNS):c.858G>A (p.Thr286=)
|
rs140299014
|
0.00068
|
NM_005609.4(PYGM):c.2112G>A (p.Ala704=)
|
rs61737361
|
0.00068
|
NM_016042.4(EXOSC3):c.588T>C (p.Asp196=)
|
rs147568068
|
0.00068
|
NM_198586.3(NHLRC1):c.681T>A (p.Asn227Lys)
|
rs140850172
|
0.00067
|
NM_000046.5(ARSB):c.1337-3T>A
|
rs183651028
|
0.00066
|
NM_000154.2(GALK1):c.746C>T (p.Ala249Val)
|
rs149825190
|
0.00066
|
NM_000293.3(PHKB):c.1746A>G (p.Leu582=)
|
rs111970242
|
0.00066
|
NM_024989.4(PGAP1):c.1876T>C (p.Tyr626His)
|
rs150893861
|
0.00066
|
NM_000507.4(FBP1):c.745A>C (p.Met249Leu)
|
rs147392679
|
0.00065
|
NM_000262.3(NAGA):c.837C>A (p.Pro279=)
|
rs149066012
|
0.00064
|
NM_000642.3(AGL):c.334A>G (p.Ile112Val)
|
rs147024351
|
0.00064
|
NM_000158.4(GBE1):c.350T>C (p.Leu117Pro)
|
rs186942296
|
0.00063
|
NM_000263.4(NAGLU):c.1446G>A (p.Arg482=)
|
rs115994665
|
0.00063
|
NM_001360016.2(G6PD):c.582C>G (p.Asp194Glu)
|
rs145247580
|
0.00063
|
NM_002863.5(PYGL):c.1410G>C (p.Lys470Asn)
|
rs78433217
|
0.00063
|
NM_000203.5(IDUA):c.11T>C (p.Leu4Pro)
|
rs180984980
|
0.00062
|
NM_016042.4(EXOSC3):c.219C>A (p.Arg73=)
|
rs149583035
|
0.00061
|
NM_152419.3(HGSNAT):c.12G>A (p.Ala4=)
|
rs1018475767
|
0.00061
|
NM_000199.5(SGSH):c.324G>A (p.Pro108=)
|
rs147938702
|
0.00060
|
NM_001040716.2(PC):c.496G>A (p.Val166Ile)
|
rs147697454
|
0.00060
|
NM_002637.4(PHKA1):c.1141G>A (p.Asp381Asn)
|
rs141251024
|
0.00059
|
NM_005908.4(MANBA):c.531T>C (p.His177=)
|
rs149902075
|
0.00059
|
NM_152419.3(HGSNAT):c.199T>C (p.Leu67=)
|
rs376924663
|
0.00059
|
NM_000035.4(ALDOB):c.525C>T (p.Ala175=)
|
rs144196914
|
0.00058
|
NM_000154.2(GALK1):c.432C>T (p.Ser144=)
|
rs150323432
|
0.00058
|
NM_000512.5(GALNS):c.1242+3A>G
|
rs377067312
|
0.00058
|
NM_001243177.4(ALDOA):c.471T>A (p.Gly157=)
|
rs142231603
|
0.00058
|
NM_000155.4(GALT):c.687+9G>C
|
rs117998880
|
0.00057
|
NM_000158.4(GBE1):c.1237-18C>T
|
rs368966861
|
0.00057
|
NM_000203.5(IDUA):c.1118A>C (p.Asn373Thr)
|
rs140564189
|
0.00057
|
NM_001040716.2(PC):c.3107G>A (p.Arg1036His)
|
rs141237842
|
0.00057
|
NM_000152.5(GAA):c.1438-9G>A
|
rs202211401
|
0.00056
|
NM_000152.5(GAA):c.2417C>T (p.Thr806Met)
|
rs139850074
|
0.00056
|
NM_000199.5(SGSH):c.507-7C>T
|
rs200965114
|
0.00056
|
NM_000263.4(NAGLU):c.353C>T (p.Pro118Leu)
|
rs530062090
|
0.00056
|
NM_000528.4(MAN2B1):c.2625C>T (p.Gly875=)
|
rs368834616
|
0.00056
|
NM_001370658.1(BTD):c.252T>C (p.Asp84=)
|
rs138545268
|
0.00056
|
NM_016203.4(PRKAG2):c.250C>T (p.Arg84Trp)
|
rs61746358
|
0.00056
|
NM_021957.4(GYS2):c.1710T>C (p.Phe570=)
|
rs149907949
|
0.00056
|
NM_031229.4(RBCK1):c.1030-4G>A
|
rs149038161
|
0.00056
|
NM_002103.5(GYS1):c.1810-6C>T
|
rs112366219
|
0.00055
|
NM_000158.4(GBE1):c.1877A>G (p.Asn626Ser)
|
rs185631651
|
0.00054
|
NM_001931.5(DLAT):c.1677+8A>G
|
rs201994231
|
0.00054
|
NM_016203.4(PRKAG2):c.472G>A (p.Gly158Ser)
|
rs727504512
|
0.00054
|
NM_000199.5(SGSH):c.1209C>T (p.Tyr403=)
|
rs115750405
|
0.00053
|
NM_000512.5(GALNS):c.1551G>A (p.Lys517=)
|
rs148182125
|
0.00053
|
NM_001164277.2(SLC37A4):c.663G>A (p.Leu221=)
|
rs150083315
|
0.00053
|
NM_001164277.2(SLC37A4):c.930C>T (p.Gly310=)
|
rs148971334
|
0.00053
|
NM_000203.5(IDUA):c.493+7G>A
|
rs200509712
|
0.00052
|
NM_001040716.2(PC):c.2319C>T (p.His773=)
|
rs201257475
|
0.00052
|
NM_000046.5(ARSB):c.88C>T (p.Leu30=)
|
rs766870239
|
0.00051
|
NM_000308.4(CTSA):c.564C>T (p.Ala188=)
|
rs149793498
|
0.00051
|
NM_000642.3(AGL):c.1908A>G (p.Ser636=)
|
rs144723143
|
0.00051
|
NM_001040716.2(PC):c.2718+9G>A
|
rs201942341
|
0.00051
|
NM_001040716.2(PC):c.3391G>A (p.Val1131Met)
|
rs116518022
|
0.00051
|
NM_016203.4(PRKAG2):c.1318C>T (p.His440Tyr)
|
rs201878539
|
0.00051
|
NM_016203.4(PRKAG2):c.712G>A (p.Ala238Thr)
|
rs200736454
|
0.00051
|
NM_000199.5(SGSH):c.1296C>T (p.Tyr432=)
|
rs141153056
|
0.00050
|
NM_001008216.2(GALE):c.873+13_873+14insA
|
rs765063773
|
0.00050
|
NM_001370658.1(BTD):c.825C>T (p.Asn275=)
|
rs145379955
|
0.00050
|
NM_000642.3(AGL):c.3822C>T (p.Ile1274=)
|
rs143885684
|
0.00049
|
NM_031229.4(RBCK1):c.654G>A (p.Arg218=)
|
rs149541936
|
0.00049
|
NM_000263.4(NAGLU):c.2157G>A (p.Pro719=)
|
rs114687267
|
0.00048
|
NM_000293.3(PHKB):c.1803G>A (p.Ala601=)
|
rs35690654
|
0.00048
|
NM_001164277.2(SLC37A4):c.1168C>T (p.His390Tyr)
|
rs199764888
|
0.00048
|
NM_001931.5(DLAT):c.754C>T (p.Leu252=)
|
rs139194443
|
0.00048
|
NM_006859.4(LIAS):c.807G>A (p.Gln269=)
|
rs140846573
|
0.00048
|
NM_000147.5(FUCA1):c.1119A>G (p.Lys373=)
|
rs370453371
|
0.00047
|
NM_000642.3(AGL):c.1028G>A (p.Arg343Gln)
|
rs137943515
|
0.00047
|
NM_016042.4(EXOSC3):c.430T>C (p.Leu144=)
|
rs138085418
|
0.00047
|
NM_031229.4(RBCK1):c.782A>G (p.Asn261Ser)
|
rs377605009
|
0.00047
|
NM_000152.5(GAA):c.859-18G>A
|
rs377222482
|
0.00046
|
NM_000158.4(GBE1):c.1713C>T (p.Asp571=)
|
rs373148836
|
0.00046
|
NM_000289.6(PFKM):c.495T>A (p.Ile165=)
|
rs148858610
|
0.00046
|
NM_001164277.2(SLC37A4):c.1286A>C (p.Glu429Ala)
|
rs149974794
|
0.00046
|
NM_001243177.4(ALDOA):c.1182A>G (p.Gln394=)
|
rs143419532
|
0.00046
|
NM_001352514.2(HLCS):c.1342G>A (p.Gly448Ser)
|
rs200886053
|
0.00046
|
NM_001931.5(DLAT):c.1636A>G (p.Thr546Ala)
|
rs143152014
|
0.00046
|
NM_024989.4(PGAP1):c.2647A>G (p.Thr883Ala)
|
rs139107571
|
0.00046
|
NM_152419.3(HGSNAT):c.765C>T (p.Val255=)
|
rs137963729
|
0.00046
|
NM_000154.2(GALK1):c.66G>A (p.Glu22=)
|
rs367558510
|
0.00045
|
NM_000181.4(GUSB):c.684C>A (p.Ile228=)
|
rs375590538
|
0.00045
|
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_002863.5(PYGL):c.147C>T (p.Thr49=)
|
rs139338050
|
0.00044
|
NM_031229.4(RBCK1):c.918-11C>T
|
rs369471646
|
0.00044
|
NM_001352514.2(HLCS):c.1347G>C (p.Arg449Ser)
|
rs142621386
|
0.00043
|
NM_001352514.2(HLCS):c.1390G>T (p.Val464Leu)
|
rs144705277
|
0.00043
|
NM_002076.4(GNS):c.117G>T (p.Gly39=)
|
rs371407400
|
0.00043
|
NM_016042.4(EXOSC3):c.123C>T (p.Asp41=)
|
rs147510873
|
0.00043
|
NM_000891.3(KCNJ2):c.1200G>A (p.Thr400=)
|
rs201253055
|
0.00042
|
NM_000891.3(KCNJ2):c.1229A>G (p.Asn410Ser)
|
rs141069645
|
0.00042
|
NM_005609.4(PYGM):c.1692C>T (p.Phe564=)
|
rs116812032
|
0.00042
|
NM_024989.4(PGAP1):c.2286+20C>G
|
rs377640676
|
0.00042
|
NM_000293.3(PHKB):c.305+11G>T
|
rs368293023
|
0.00041
|
NM_001164277.2(SLC37A4):c.1240C>T (p.Leu414=)
|
rs200703321
|
0.00041
|
NM_001370658.1(BTD):c.411C>T (p.Arg137=)
|
rs141240202
|
0.00041
|
NM_002863.5(PYGL):c.1920G>A (p.Lys640=)
|
rs140296036
|
0.00041
|
NM_005566.4(LDHA):c.672G>A (p.Lys224=)
|
rs199918200
|
0.00041
|
NM_016203.4(PRKAG2):c.946+3A>G
|
rs376173303
|
0.00041
|
NM_000507.4(FBP1):c.670G>A (p.Val224Ile)
|
rs140222720
|
0.00040
|
NM_001931.5(DLAT):c.382G>A (p.Val128Ile)
|
rs144677434
|
0.00040
|
NM_000046.5(ARSB):c.1123G>A (p.Asp375Asn)
|
rs200040980
|
0.00039
|
NM_000158.4(GBE1):c.1237-15C>T
|
rs376809475
|
0.00039
|
NM_000262.3(NAGA):c.1146T>C (p.Asp382=)
|
rs6002590
|
0.00039
|
NM_000642.3(AGL):c.2941A>G (p.Ile981Val)
|
rs148981763
|
0.00039
|
NM_001040716.2(PC):c.3258C>G (p.Ser1086=)
|
rs138238125
|
0.00039
|
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_000512.5(GALNS):c.252G>A (p.Ala84=)
|
rs377250967
|
0.00038
|
NM_000528.4(MAN2B1):c.2917A>G (p.Asn973Asp)
|
rs148080695
|
0.00038
|
NM_001040716.2(PC):c.2898+20G>A
|
rs144273133
|
0.00038
|
NM_001040716.2(PC):c.3147+15C>T
|
rs371879809
|
0.00038
|
NM_005327.7(HADH):c.99C>G (p.Ile33Met)
|
rs74428123
|
0.00038
|
NM_016042.4(EXOSC3):c.52C>T (p.Arg18Cys)
|
rs147135294
|
0.00038
|
NM_016042.4(EXOSC3):c.53G>C (p.Arg18Pro)
|
rs145677716
|
0.00038
|
NM_016219.5(MAN1B1):c.1287C>T (p.His429=)
|
rs145524720
|
0.00038
|
NM_152419.3(HGSNAT):c.1623G>A (p.Ser541=)
|
rs372909374
|
0.00038
|
NM_000027.4(AGA):c.885G>A (p.Lys295=)
|
rs34019119
|
0.00037
|
NM_000154.2(GALK1):c.747G>A (p.Ala249=)
|
rs140053358
|
0.00037
|
NM_000158.4(GBE1):c.346A>G (p.Lys116Glu)
|
rs377305989
|
0.00037
|
NM_000293.3(PHKB):c.2674G>A (p.Gly892Arg)
|
rs149983469
|
0.00037
|
NM_024989.4(PGAP1):c.927+4T>C
|
rs201984003
|
0.00037
|
NM_000151.4(G6PC1):c.558G>T (p.Leu186=)
|
rs141376085
|
0.00036
|
NM_000152.5(GAA):c.2652G>A (p.Thr884=)
|
rs143642048
|
0.00036
|
NM_001352514.2(HLCS):c.1811G>A (p.Arg604His)
|
rs74574054
|
0.00036
|
NM_016203.4(PRKAG2):c.251G>A (p.Arg84Gln)
|
rs201953758
|
0.00036
|
NM_031229.4(RBCK1):c.246G>A (p.Ala82=)
|
rs148091459
|
0.00036
|
NM_000154.2(GALK1):c.794-17T>G
|
rs372098011
|
0.00035
|
NM_000340.2(SLC2A2):c.247G>A (p.Glu83Lys)
|
rs150851401
|
0.00035
|
NM_016203.4(PRKAG2):c.247C>T (p.Pro83Ser)
|
rs148791216
|
0.00035
|
NM_152419.3(HGSNAT):c.17G>A (p.Arg6Lys)
|
rs867446205
|
0.00035
|
NM_000147.5(FUCA1):c.502T>C (p.Leu168=)
|
rs147389792
|
0.00034
|
NM_000152.5(GAA):c.1754+11C>T
|
rs371644603
|
0.00034
|
NM_000199.5(SGSH):c.144G>A (p.Pro48=)
|
rs145970971
|
0.00034
|
NM_000292.3(PHKA2):c.3244G>A (p.Val1082Met)
|
rs142123423
|
0.00034
|
NM_000293.3(PHKB):c.3216G>A (p.Ala1072=)
|
rs137869198
|
0.00034
|
NM_000404.4(GLB1):c.397-5A>G
|
rs375046684
|
0.00034
|
NM_000512.5(GALNS):c.1364+8G>A
|
rs368171136
|
0.00034
|
NM_000512.5(GALNS):c.634-13G>A
|
rs372009899
|
0.00034
|
NM_000642.3(AGL):c.2088C>T (p.Ser696=)
|
rs144491501
|
0.00034
|
NM_000642.3(AGL):c.3589-19C>T
|
rs368244330
|
0.00034
|
NM_005609.4(PYGM):c.1160G>A (p.Arg387His)
|
rs200357590
|
0.00034
|
NM_000528.4(MAN2B1):c.2691G>A (p.Pro897=)
|
rs149897798
|
0.00033
|
NM_002076.4(GNS):c.4C>T (p.Arg2Trp)
|
rs200441930
|
0.00033
|
NM_000035.4(ALDOB):c.681C>T (p.Thr227=)
|
rs61757689
|
0.00032
|
NM_000199.5(SGSH):c.89-4G>A
|
rs375536965
|
0.00032
|
NM_002103.5(GYS1):c.201G>A (p.Pro67=)
|
rs140201404
|
0.00032
|
NM_000151.4(G6PC1):c.340+20C>T
|
rs183285298
|
0.00031
|
NM_000158.4(GBE1):c.1080G>A (p.Thr360=)
|
rs200645261
|
0.00031
|
NM_000289.6(PFKM):c.1611C>T (p.Asp537=)
|
rs764961084
|
0.00031
|
NM_000642.3(AGL):c.1333A>G (p.Met445Val)
|
rs140375476
|
0.00031
|
NM_001040716.2(PC):c.1551C>T (p.Pro517=)
|
rs140746469
|
0.00031
|
NM_002076.4(GNS):c.468C>T (p.Ala156=)
|
rs147780685
|
0.00031
|
NM_002863.5(PYGL):c.663G>A (p.Val221=)
|
rs370565099
|
0.00031
|
NM_005908.4(MANBA):c.792C>T (p.Tyr264=)
|
rs141619070
|
0.00031
|
NM_012434.5(SLC17A5):c.1059G>A (p.Arg353=)
|
rs149017456
|
0.00031
|
NM_024989.4(PGAP1):c.187G>A (p.Ala63Thr)
|
rs201585822
|
0.00031
|
NM_152419.3(HGSNAT):c.108G>A (p.Ala36=)
|
rs886062952
|
0.00031
|
NM_000199.5(SGSH):c.999C>T (p.Tyr333=)
|
rs149139346
|
0.00030
|
NM_000512.5(GALNS):c.121-4G>A
|
rs200008960
|
0.00030
|
NM_000528.4(MAN2B1):c.1906C>T (p.Pro636Ser)
|
rs141276889
|
0.00030
|
NM_001352514.2(HLCS):c.1422A>G (p.Glu474=)
|
rs189674085
|
0.00030
|
NM_000108.5(DLD):c.763A>C (p.Met255Leu)
|
rs533405046
|
0.00029
|
NM_000155.4(GALT):c.498T>C (p.Pro166=)
|
rs193922249
|
0.00029
|
NM_000199.5(SGSH):c.6C>T (p.Ser2=)
|
rs1043643087
|
0.00029
|
NM_000203.5(IDUA):c.666C>T (p.Gly222=)
|
rs200411359
|
0.00029
|
NM_000262.3(NAGA):c.993G>T (p.Leu331=)
|
rs147853281
|
0.00029
|
NM_000263.4(NAGLU):c.1797C>G (p.Ala599=)
|
rs146715254
|
0.00029
|
NM_000293.3(PHKB):c.1364-10T>C
|
rs199899291
|
0.00029
|
NM_000507.4(FBP1):c.102G>C (p.Leu34=)
|
rs143832764
|
0.00029
|
NM_000507.4(FBP1):c.495C>T (p.Tyr165=)
|
rs139264724
|
0.00029
|
NM_000512.5(GALNS):c.412G>A (p.Val138Ile)
|
rs140018158
|
0.00029
|
NM_000528.4(MAN2B1):c.2501C>T (p.Ser834Leu)
|
rs199967717
|
0.00029
|
NM_000642.3(AGL):c.82+4A>C
|
rs765098686
|
0.00029
|
NM_001008216.2(GALE):c.369G>A (p.Gly123=)
|
rs138148991
|
0.00029
|
NM_002103.5(GYS1):c.1338C>T (p.His446=)
|
rs139974904
|
0.00029
|
NM_002863.5(PYGL):c.1757C>T (p.Thr586Met)
|
rs144989341
|
0.00029
|
NM_003384.3(VRK1):c.183A>C (p.Ser61=)
|
rs150196318
|
0.00029
|
NM_006765.4(TUSC3):c.768T>C (p.Tyr256=)
|
rs149033081
|
0.00029
|
NM_000404.4(GLB1):c.1347+10G>A
|
rs199538100
|
0.00028
|
NM_000404.4(GLB1):c.31C>G (p.Leu11Val)
|
rs77988381
|
0.00028
|
NM_002076.4(GNS):c.1434C>G (p.Val478=)
|
rs141958901
|
0.00028
|
NM_005271.5(GLUD1):c.393C>G (p.Val131=)
|
rs147496974
|
0.00028
|
NM_012434.5(SLC17A5):c.1432G>A (p.Ala478Thr)
|
rs141341430
|
0.00028
|
NM_000158.4(GBE1):c.990C>T (p.Ser330=)
|
rs371194644
|
0.00027
|
NM_000642.3(AGL):c.4450G>A (p.Val1484Ile)
|
rs75076115
|
0.00027
|
NM_002863.5(PYGL):c.1404-8A>G
|
rs374360647
|
0.00027
|
NM_002863.5(PYGL):c.1620+10C>G
|
rs367866027
|
0.00027
|
NM_002863.5(PYGL):c.1728A>G (p.Arg576=)
|
rs143287753
|
0.00027
|
NM_002863.5(PYGL):c.1824T>C (p.Gly608=)
|
rs141456201
|
0.00027
|
NM_002863.5(PYGL):c.1995G>A (p.Glu665=)
|
rs148777213
|
0.00027
|
NM_152419.3(HGSNAT):c.1251-4C>T
|
rs374882647
|
0.00027
|
NM_000152.5(GAA):c.119G>A (p.Arg40Gln)
|
rs374476196
|
0.00026
|
NM_000152.5(GAA):c.2332-10C>G
|
rs373606162
|
0.00026
|
NM_000152.5(GAA):c.2736G>A (p.Ala912=)
|
rs142472738
|
0.00026
|
NM_000152.5(GAA):c.32G>A (p.Arg11Gln)
|
rs138812846
|
0.00026
|
NM_000263.4(NAGLU):c.764+10C>T
|
rs372400832
|
0.00026
|
NM_000293.3(PHKB):c.2766-7G>A
|
rs199719186
|
0.00026
|
NM_000528.4(MAN2B1):c.2619G>A (p.Pro873=)
|
rs372896479
|
0.00026
|
NM_000925.4(PDHB):c.97-5G>A
|
rs200429396
|
0.00026
|
NM_001040716.2(PC):c.2325G>A (p.Thr775=)
|
rs371093155
|
0.00026
|
NM_001352514.2(HLCS):c.1073C>T (p.Thr358Met)
|
rs142524025
|
0.00026
|
NM_001352514.2(HLCS):c.2465A>G (p.His822Arg)
|
rs148868421
|
0.00026
|
NM_005609.4(PYGM):c.1870G>A (p.Val624Ile)
|
rs143217651
|
0.00026
|
NM_005609.4(PYGM):c.2268C>T (p.Pro756=)
|
rs144229867
|
0.00026
|
NM_016219.5(MAN1B1):c.717A>G (p.Thr239=)
|
rs112434939
|
0.00026
|
NM_000343.4(SLC5A1):c.1280+8C>G
|
rs200130719
|
0.00025
|
NM_000404.4(GLB1):c.1530G>A (p.Thr510=)
|
rs191203702
|
0.00025
|
NM_000642.3(AGL):c.2219A>G (p.His740Arg)
|
rs562215810
|
0.00025
|
NM_000925.4(PDHB):c.564A>G (p.Lys188=)
|
rs146996786
|
0.00025
|
NM_001040716.2(PC):c.2748C>T (p.Asp916=)
|
rs149689543
|
0.00025
|
NM_001360016.2(G6PD):c.1052-4G>A
|
rs372124193
|
0.00025
|
NM_001365304.2(LOC112694756):c.*1309-20G>A
|
rs189723657
|
0.00025
|
NM_004130.4(GYG1):c.348C>G (p.Asp116Glu)
|
rs978877121
|
0.00025
|
NM_005609.4(PYGM):c.612C>T (p.Tyr204=)
|
rs200467937
|
0.00025
|
NM_012434.5(SLC17A5):c.6G>A (p.Arg2=)
|
rs374582872
|
0.00025
|
NM_016203.4(PRKAG2):c.325T>G (p.Ser109Ala)
|
rs139579816
|
0.00025
|
NM_000152.5(GAA):c.1552-14C>T
|
rs199715011
|
0.00024
|
NM_000154.2(GALK1):c.447G>A (p.Thr149=)
|
rs765744088
|
0.00024
|
NM_000203.5(IDUA):c.1765G>A (p.Gly589Ser)
|
rs144941693
|
0.00024
|
NM_000294.3(PHKG2):c.360A>G (p.Thr120=)
|
rs149163610
|
0.00024
|
NM_000343.4(SLC5A1):c.1752T>G (p.Pro584=)
|
rs149362007
|
0.00024
|
NM_000512.5(GALNS):c.1002+18G>A
|
rs376019383
|
0.00024
|
NM_001008216.2(GALE):c.423C>T (p.Tyr141=)
|
rs138518245
|
0.00024
|
NM_001040716.2(PC):c.715A>G (p.Ile239Val)
|
rs148805312
|
0.00024
|
NM_001352514.2(HLCS):c.1326C>T (p.Pro442=)
|
rs143393390
|
0.00024
|
NM_001352514.2(HLCS):c.674G>A (p.Gly225Asp)
|
rs144238478
|
0.00024
|
NM_005609.4(PYGM):c.729C>T (p.Arg243=)
|
rs151160016
|
0.00024
|
NM_033159.4(HYAL1):c.141C>T (p.His47=)
|
rs147089930
|
0.00024
|
NM_000152.5(GAA):c.2040+17G>A
|
rs534129336
|
0.00023
|
NM_000199.5(SGSH):c.1050G>A (p.Pro350=)
|
rs373992449
|
0.00023
|
NM_000290.4(PGAM2):c.288A>G (p.Thr96=)
|
rs139561812
|
0.00023
|
NM_000292.3(PHKA2):c.3615G>A (p.Pro1205=)
|
rs200550207
|
0.00023
|
NM_000404.4(GLB1):c.234C>T (p.Asn78=)
|
rs368796666
|
0.00023
|
NM_001370658.1(BTD):c.430A>C (p.Arg144=)
|
rs556096072
|
0.00023
|
NM_001931.5(DLAT):c.1290+13C>T
|
rs781932978
|
0.00023
|
NM_016203.4(PRKAG2):c.1585-4G>A
|
rs373649956
|
0.00023
|
NM_000046.5(ARSB):c.185T>A (p.Phe62Tyr)
|
rs779228581
|
0.00022
|
NM_000108.5(DLD):c.321A>G (p.Ala107=)
|
rs138398782
|
0.00022
|
NM_000152.5(GAA):c.1599C>T (p.Cys533=)
|
rs142766716
|
0.00022
|
NM_000181.4(GUSB):c.1240C>T (p.Leu414=)
|
rs150686327
|
0.00022
|
NM_000289.6(PFKM):c.1653+8C>T
|
rs369425921
|
0.00022
|
NM_000290.4(PGAM2):c.707A>C (p.Glu236Ala)
|
rs140230479
|
0.00022
|
NM_000292.3(PHKA2):c.339C>T (p.His113=)
|
rs142799459
|
0.00022
|
NM_001352514.2(HLCS):c.508G>A (p.Asp170Asn)
|
rs149822970
|
0.00022
|
NM_002863.5(PYGL):c.743G>A (p.Arg248Gln)
|
rs776101957
|
0.00022
|
NM_005609.4(PYGM):c.2177+7G>A
|
rs201366697
|
0.00022
|
NM_152419.3(HGSNAT):c.468C>T (p.Asn156=)
|
rs376382820
|
0.00022
|
NM_000108.5(DLD):c.519T>G (p.Val173=)
|
rs148559280
|
0.00021
|
NM_000147.5(FUCA1):c.339C>T (p.Arg113=)
|
rs558060888
|
0.00021
|
NM_000147.5(FUCA1):c.525-8T>G
|
rs41268125
|
0.00021
|
NM_000151.4(G6PC1):c.909C>T (p.Leu303=)
|
rs368282218
|
0.00021
|
NM_000152.5(GAA):c.2152G>A (p.Val718Ile)
|
rs141017311
|
0.00021
|
NM_000152.5(GAA):c.2245G>T (p.Ala749Ser)
|
rs148311222
|
0.00021
|
NM_000152.5(GAA):c.2323C>A (p.Leu775Met)
|
rs147290429
|
0.00021
|
NM_000155.4(GALT):c.1135G>A (p.Ala379Thr)
|
rs780064274
|
0.00021
|
NM_000262.3(NAGA):c.360G>A (p.Ala120=)
|
rs149600926
|
0.00021
|
NM_000263.4(NAGLU):c.2043G>A (p.Ala681=)
|
rs115401566
|
0.00021
|
NM_000289.6(PFKM):c.459C>T (p.Ser153=)
|
rs145519821
|
0.00021
|
NM_000340.2(SLC2A2):c.588C>T (p.Ile196=)
|
rs374624284
|
0.00021
|
NM_000404.4(GLB1):c.1641G>A (p.Thr547=)
|
rs370546368
|
0.00021
|
NM_000512.5(GALNS):c.756G>A (p.Gly252=)
|
rs146538873
|
0.00021
|
NM_000512.5(GALNS):c.771C>T (p.Ala257=)
|
rs370586494
|
0.00021
|
NM_001040716.2(PC):c.1446C>T (p.Asp482=)
|
rs145891535
|
0.00021
|
NM_001739.2(CA5A):c.556C>T (p.Leu186Phe)
|
rs375321548
|
0.00021
|
NM_001931.5(DLAT):c.946C>T (p.Pro316Ser)
|
rs149088081
|
0.00021
|
NM_002863.5(PYGL):c.364G>A (p.Glu122Lys)
|
rs144099482
|
0.00021
|
NM_005271.5(GLUD1):c.150G>C (p.Arg50=)
|
rs746606279
|
0.00021
|
NM_005609.4(PYGM):c.1143G>A (p.Leu381=)
|
rs143401208
|
0.00021
|
NM_006765.4(TUSC3):c.1029-8T>C
|
rs371128729
|
0.00021
|
NM_016203.4(PRKAG2):c.521C>T (p.Thr174Met)
|
rs148056866
|
0.00021
|
NM_024989.4(PGAP1):c.2150+9_2150+10insA
|
rs767941628
|
0.00021
|
NM_198586.3(NHLRC1):c.990G>A (p.Gln330=)
|
rs148553723
|
0.00021
|
NM_000152.5(GAA):c.1888+10_1888+11insC
|
rs748036956
|
0.00020
|
NM_000152.5(GAA):c.2253C>T (p.Leu751=)
|
rs140441758
|
0.00020
|
NM_000152.5(GAA):c.2751C>T (p.Leu917=)
|
rs146507838
|
0.00020
|
NM_000154.2(GALK1):c.591C>T (p.His197=)
|
rs142992759
|
0.00020
|
NM_000203.5(IDUA):c.1002G>A (p.Leu334=)
|
rs370582480
|
0.00020
|
NM_000292.3(PHKA2):c.295G>A (p.Val99Met)
|
rs200281934
|
0.00020
|
NM_000404.4(GLB1):c.1234-11T>A
|
rs145674318
|
0.00020
|
NM_000507.4(FBP1):c.141G>C (p.Ser47=)
|
rs148976582
|
0.00020
|
NM_000512.5(GALNS):c.1242+16C>T
|
rs373098107
|
0.00020
|
NM_000528.4(MAN2B1):c.34G>A (p.Ala12Thr)
|
rs747538432
|
0.00020
|
NM_000642.3(AGL):c.1537A>T (p.Thr513Ser)
|
rs143987049
|
0.00020
|
NM_001931.5(DLAT):c.109C>G (p.Arg37Gly)
|
rs183829292
|
0.00020
|
NM_002863.5(PYGL):c.2380-9T>C
|
rs368714229
|
0.00020
|
NM_016203.4(PRKAG2):c.313G>A (p.Val105Met)
|
rs397517269
|
0.00020
|
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu)
|
rs146762316
|
0.00019
|
NM_000152.5(GAA):c.250G>A (p.Val84Ile)
|
rs139595011
|
0.00019
|
NM_000152.5(GAA):c.693-4G>T
|
rs200088236
|
0.00019
|
NM_000199.5(SGSH):c.570C>T (p.Tyr190=)
|
rs149951602
|
0.00019
|
NM_000263.4(NAGLU):c.1322C>T (p.Thr441Met)
|
rs138695961
|
0.00019
|
NM_000263.4(NAGLU):c.1617C>T (p.Ala539=)
|
rs149875730
|
0.00019
|
NM_000293.3(PHKB):c.1204+9G>T
|
rs200832185
|
0.00019
|
NM_000293.3(PHKB):c.2629G>A (p.Gly877Arg)
|
rs150902092
|
0.00019
|
NM_000308.4(CTSA):c.1059G>A (p.Pro353=)
|
rs74694805
|
0.00019
|
NM_000507.4(FBP1):c.818A>G (p.Asn273Ser)
|
rs143965326
|
0.00019
|
NM_000642.3(AGL):c.2163T>C (p.Tyr721=)
|
rs368162843
|
0.00019
|
NM_000642.3(AGL):c.4482-19T>G
|
rs370127763
|
0.00019
|
NM_001040716.2(PC):c.1266C>T (p.Tyr422=)
|
rs141324828
|
0.00019
|
NM_001040716.2(PC):c.2000A>C (p.Lys667Thr)
|
rs138760063
|
0.00019
|
NM_001040716.2(PC):c.89G>A (p.Arg30Gln)
|
rs199616332
|
0.00019
|
NM_001243177.4(ALDOA):c.426G>A (p.Ala142=)
|
rs772550893
|
0.00019
|
NM_001243177.4(ALDOA):c.668A>G (p.Asn223Ser)
|
rs142957871
|
0.00019
|
NM_001739.2(CA5A):c.690C>T (p.Tyr230=)
|
rs142006568
|
0.00019
|
NM_002863.5(PYGL):c.1656G>A (p.Thr552=)
|
rs376165151
|
0.00019
|
NM_005609.4(PYGM):c.2220G>C (p.Arg740=)
|
rs533583089
|
0.00019
|
NM_006859.4(LIAS):c.297T>C (p.Asn99=)
|
rs144299903
|
0.00019
|
NM_016203.4(PRKAG2):c.123C>T (p.Ser41=)
|
rs397517263
|
0.00019
|
NM_016219.5(MAN1B1):c.15G>A (p.Glu5=)
|
rs371734726
|
0.00019
|
NM_031229.4(RBCK1):c.461-4A>G
|
rs371854549
|
0.00019
|
NM_031229.4(RBCK1):c.531C>T (p.Val177=)
|
rs375018967
|
0.00019
|
NM_000035.4(ALDOB):c.582T>C (p.Asp194=)
|
rs141988626
|
0.00018
|
NM_000108.5(DLD):c.282C>T (p.Asn94=)
|
rs144617361
|
0.00018
|
NM_000151.4(G6PC1):c.1002C>T (p.Pro334=)
|
rs143991162
|
0.00018
|
NM_000152.5(GAA):c.1232G>A (p.Arg411Gln)
|
rs372799904
|
0.00018
|
NM_000158.4(GBE1):c.313+15G>A
|
rs184391304
|
0.00018
|
NM_000308.4(CTSA):c.1368C>G (p.Gly456=)
|
rs141528471
|
0.00018
|
NM_000340.2(SLC2A2):c.1077T>C (p.Leu359=)
|
rs5408
|
0.00018
|
NM_000404.4(GLB1):c.782A>G (p.Lys261Arg)
|
rs200050465
|
0.00018
|
NM_000528.4(MAN2B1):c.2404A>G (p.Ser802Gly)
|
rs141391488
|
0.00018
|
NM_000528.4(MAN2B1):c.2766C>T (p.Ala922=)
|
rs150866794
|
0.00018
|
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln)
|
rs147474255
|
0.00018
|
NM_002103.5(GYS1):c.1512C>T (p.Val504=)
|
rs201028159
|
0.00018
|
NM_005609.4(PYGM):c.72C>T (p.Asn24=)
|
rs757114579
|
0.00018
|
NM_024989.4(PGAP1):c.310A>G (p.Ile104Val)
|
rs200242648
|
0.00018
|
NM_000152.5(GAA):c.131G>T (p.Gly44Val)
|
rs550609502
|
0.00017
|
NM_000152.5(GAA):c.1848C>T (p.Asp616=)
|
rs377175810
|
0.00017
|
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln)
|
rs149968110
|
0.00017
|
NM_000181.4(GUSB):c.147C>T (p.Ala49=)
|
rs375940373
|
0.00017
|
NM_000181.4(GUSB):c.54C>T (p.Gly18=)
|
rs759514074
|
0.00017
|
NM_000203.5(IDUA):c.386-8T>C
|
rs199652725
|
0.00017
|
NM_000263.4(NAGLU):c.1464G>A (p.Pro488=)
|
rs140956564
|
0.00017
|
NM_000293.3(PHKB):c.2445T>C (p.Phe815=)
|
rs61494991
|
0.00017
|
NM_000308.4(CTSA):c.603G>A (p.Gly201=)
|
rs1034687892
|
0.00017
|
NM_000528.4(MAN2B1):c.2268-11C>T
|
rs537217370
|
0.00017
|
NM_000642.3(AGL):c.3884G>A (p.Arg1295His)
|
rs140481863
|
0.00017
|
NM_001008216.2(GALE):c.447C>G (p.Pro149=)
|
rs571625657
|
0.00017
|
NM_005566.4(LDHA):c.594G>C (p.Val198=)
|
rs373534867
|
0.00017
|
NM_152419.3(HGSNAT):c.1488C>T (p.Tyr496=)
|
rs371042202
|
0.00017
|
NM_000152.5(GAA):c.2274C>T (p.Ala758=)
|
rs150431943
|
0.00016
|
NM_000181.4(GUSB):c.1020G>A (p.Gly340=)
|
rs372851133
|
0.00016
|
NM_000203.5(IDUA):c.1863A>C (p.Arg621=)
|
rs762586
|
0.00016
|
NM_000203.5(IDUA):c.365G>A (p.Arg122Lys)
|
rs200237798
|
0.00016
|
NM_000203.5(IDUA):c.663C>G (p.Pro221=)
|
rs368553582
|
0.00016
|
NM_000263.4(NAGLU):c.1662C>T (p.Pro554=)
|
rs368521316
|
0.00016
|
NM_000263.4(NAGLU):c.348C>T (p.Ala116=)
|
rs559674042
|
0.00016
|
NM_000263.4(NAGLU):c.678+4A>G
|
rs368199655
|
0.00016
|
NM_000293.3(PHKB):c.1609-20T>C
|
rs374125947
|
0.00016
|
NM_000343.4(SLC5A1):c.208-8G>A
|
rs199783226
|
0.00016
|
NM_000402.4(G6PD):c.556G>A (p.Glu186Lys)
|
rs137852313
|
0.00016
|
NM_000528.4(MAN2B1):c.1209C>A (p.Arg403=)
|
rs559827776
|
0.00016
|
NM_000528.4(MAN2B1):c.2966A>G (p.Asn989Ser)
|
rs753397171
|
0.00016
|
NM_000528.4(MAN2B1):c.2973G>A (p.Thr991=)
|
rs148945108
|
0.00016
|
NM_000642.3(AGL):c.1895T>C (p.Ile632Thr)
|
rs138823746
|
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_000925.4(PDHB):c.150T>C (p.Asp50=)
|
rs367846961
|
0.00016
|
NM_001040716.2(PC):c.1716C>T (p.Asp572=)
|
rs577570512
|
0.00016
|
NM_001739.2(CA5A):c.258C>T (p.Ser86=)
|
rs145171357
|
0.00016
|
NM_001931.5(DLAT):c.1476C>T (p.Pro492=)
|
rs370501604
|
0.00016
|
NM_001931.5(DLAT):c.828G>T (p.Leu276=)
|
rs199835215
|
0.00016
|
NM_002103.5(GYS1):c.1810-19C>A
|
rs367581750
|
0.00016
|
NM_002103.5(GYS1):c.255G>A (p.Pro85=)
|
rs146417520
|
0.00016
|
NM_003384.3(VRK1):c.216+8A>G
|
rs369680885
|
0.00016
|
NM_003384.3(VRK1):c.810T>C (p.Tyr270=)
|
rs943810223
|
0.00016
|
NM_003384.3(VRK1):c.906C>T (p.Tyr302=)
|
rs528346065
|
0.00016
|
NM_005271.5(GLUD1):c.1402+10G>A
|
rs202067232
|
0.00016
|
NM_005327.7(HADH):c.255C>T (p.Asn85=)
|
rs746650397
|
0.00016
|
NM_005609.4(PYGM):c.2290A>G (p.Asn764Asp)
|
rs190548494
|
0.00016
|
NM_005609.4(PYGM):c.951C>T (p.Phe317=)
|
rs71581789
|
0.00016
|
NM_005609.4(PYGM):c.981C>T (p.Phe327=)
|
rs146289842
|
0.00016
|
NM_016203.4(PRKAG2):c.1452G>A (p.Glu484=)
|
rs768299371
|
0.00016
|
NM_016219.5(MAN1B1):c.1312C>T (p.Leu438=)
|
rs150942110
|
0.00016
|
NM_016219.5(MAN1B1):c.2091C>G (p.Thr697=)
|
rs749762302
|
0.00016
|
NM_022042.4(SLC26A1):c.*1032C>T
|
rs886180069
|
0.00016
|
NM_024989.4(PGAP1):c.2073G>A (p.Thr691=)
|
rs140419014
|
0.00016
|
NM_033159.4(HYAL1):c.600C>A (p.Gly200=)
|
rs374928005
|
0.00016
|
NM_053013.4(ENO3):c.249C>T (p.Ser83=)
|
rs145859308
|
0.00016
|
NM_152419.3(HGSNAT):c.205G>A (p.Val69Ile)
|
rs202001245
|
0.00016
|
NM_152419.3(HGSNAT):c.321C>T (p.His107=)
|
rs571883806
|
0.00016
|
NM_000147.5(FUCA1):c.639A>G (p.Pro213=)
|
rs200409671
|
0.00015
|
NM_000181.4(GUSB):c.13T>C (p.Ser5Pro)
|
rs190496263
|
0.00015
|
NM_000263.4(NAGLU):c.1467C>T (p.Asp489=)
|
rs115550028
|
0.00015
|
NM_000263.4(NAGLU):c.288C>T (p.Phe96=)
|
rs755082293
|
0.00015
|
NM_000263.4(NAGLU):c.510C>T (p.Gly170=)
|
rs375661192
|
0.00015
|
NM_000290.4(PGAM2):c.531C>G (p.Ala177=)
|
rs555158017
|
0.00015
|
NM_000292.3(PHKA2):c.2807-18C>T
|
rs373513953
|
0.00015
|
NM_000404.4(GLB1):c.1095C>T (p.Ile365=)
|
rs200762972
|
0.00015
|
NM_000404.4(GLB1):c.1479+11C>T
|
rs369789589
|
0.00015
|
NM_000512.5(GALNS):c.633+12C>T
|
rs199726408
|
0.00015
|
NM_000512.5(GALNS):c.699C>T (p.Asp233=)
|
rs374694424
|
0.00015
|
NM_001352514.2(HLCS):c.2526C>T (p.Leu842=)
|
rs147256659
|
0.00015
|
NM_002863.5(PYGL):c.696C>T (p.Pro232=)
|
rs141485241
|
0.00015
|
NM_002863.5(PYGL):c.78A>G (p.Ala26=)
|
rs572184134
|
0.00015
|
NM_004130.4(GYG1):c.201C>T (p.Gly67=)
|
rs149479866
|
0.00015
|
NM_005609.4(PYGM):c.1769-12G>A
|
rs377117150
|
0.00015
|
NM_005609.4(PYGM):c.558C>T (p.Tyr186=)
|
rs144298015
|
0.00015
|
NM_016203.4(PRKAG2):c.1678+10T>C
|
rs369965019
|
0.00015
|
NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly)
|
rs201240745
|
0.00015
|
NM_016219.5(MAN1B1):c.587G>A (p.Arg196His)
|
rs200410163
|
0.00015
|
NM_031229.4(RBCK1):c.204C>T (p.Thr68=)
|
rs189407509
|
0.00015
|
NM_000027.4(AGA):c.941-5C>T
|
rs377622082
|
0.00014
|
NM_000147.5(FUCA1):c.405G>A (p.Thr135=)
|
rs145153173
|
0.00014
|
NM_000151.4(G6PC1):c.942C>G (p.Pro314=)
|
rs141352548
|
0.00014
|
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_000155.4(GALT):c.688-4C>T
|
rs374014228
|
0.00014
|
NM_000158.4(GBE1):c.45G>A (p.Glu15=)
|
rs370326965
|
0.00014
|
NM_000181.4(GUSB):c.933G>A (p.Thr311=)
|
rs188921177
|
0.00014
|
NM_000203.5(IDUA):c.300-20C>T
|
rs374050415
|
0.00014
|
NM_000263.4(NAGLU):c.2124C>T (p.Phe708=)
|
rs139195906
|
0.00014
|
NM_000284.4(PDHA1):c.57+6A>T
|
rs375415868
|
0.00014
|
NM_000294.3(PHKG2):c.1184C>T (p.Ala395Val)
|
rs141025408
|
0.00014
|
NM_000343.4(SLC5A1):c.1809G>A (p.Arg603=)
|
rs200228396
|
0.00014
|
NM_000404.4(GLB1):c.1511A>G (p.Asn504Ser)
|
rs372538696
|
0.00014
|
NM_000404.4(GLB1):c.450C>T (p.Ser150=)
|
rs140353187
|
0.00014
|
NM_000512.5(GALNS):c.899-6T>C
|
rs374850312
|
0.00014
|
NM_000528.4(MAN2B1):c.1928+10G>C
|
rs200579436
|
0.00014
|
NM_000642.3(AGL):c.1261A>G (p.Arg421Gly)
|
rs150637770
|
0.00014
|
NM_000642.3(AGL):c.846+14G>A
|
rs376827010
|
0.00014
|
NM_000891.3(KCNJ2):c.174C>T (p.Phe58=)
|
rs587781006
|
0.00014
|
NM_001014436.3(DBNL):c.*4113C>T
|
rs370359405
|
0.00014
|
NM_001040716.2(PC):c.3341C>T (p.Ala1114Val)
|
rs148492494
|
0.00014
|
NM_001040716.2(PC):c.571A>G (p.Ile191Val)
|
rs141543771
|
0.00014
|
NM_001164277.2(SLC37A4):c.174A>G (p.Ala58=)
|
rs371347098
|
0.00014
|
NM_001352514.2(HLCS):c.1474C>A (p.Gln492Lys)
|
rs138844739
|
0.00014
|
NM_001352514.2(HLCS):c.1500C>A (p.Leu500=)
|
rs200631719
|
0.00014
|
NM_001352514.2(HLCS):c.1843G>C (p.Val615Leu)
|
rs376210604
|
0.00014
|
NM_001365304.2(LOC112694756):c.*1308+12A>G
|
rs200733968
|
0.00014
|
NM_001931.5(DLAT):c.1399-13C>T
|
rs374698306
|
0.00014
|
NM_001931.5(DLAT):c.279+13C>A
|
rs187974706
|
0.00014
|
NM_001931.5(DLAT):c.381+12_381+13insG
|
rs781916881
|
0.00014
|
NM_001931.5(DLAT):c.687C>T (p.Thr229=)
|
rs144642035
|
0.00014
|
NM_002103.5(GYS1):c.1068C>T (p.Asn356=)
|
rs746981890
|
0.00014
|
NM_002294.3(LAMP2):c.591G>A (p.Val197=)
|
rs201030806
|
0.00014
|
NM_002637.4(PHKA1):c.2112C>T (p.Thr704=)
|
rs782437467
|
0.00014
|
NM_002863.5(PYGL):c.132C>T (p.Arg44=)
|
rs144280508
|
0.00014
|
NM_004130.4(GYG1):c.300C>T (p.Phe100=)
|
rs143167936
|
0.00014
|
NM_005566.4(LDHA):c.558T>C (p.His186=)
|
rs570034363
|
0.00014
|
NM_005908.4(MANBA):c.1704+16A>G
|
rs554780446
|
0.00014
|
NM_006859.4(LIAS):c.31A>T (p.Thr11Ser)
|
rs147516123
|
0.00014
|
NM_012434.5(SLC17A5):c.1365A>G (p.Glu455=)
|
rs192599733
|
0.00014
|
NM_053013.4(ENO3):c.201G>A (p.Glu67=)
|
rs377545954
|
0.00014
|
NM_000046.5(ARSB):c.1533C>T (p.Pro511=)
|
rs528157833
|
0.00013
|
NM_000152.5(GAA):c.1755-7A>G
|
rs781539108
|
0.00013
|
NM_000152.5(GAA):c.2381G>A (p.Arg794His)
|
rs200505871
|
0.00013
|
NM_000154.2(GALK1):c.876G>A (p.Ala292=)
|
rs375015389
|
0.00013
|
NM_000202.8(IDS):c.507+6G>T
|
rs370769925
|
0.00013
|
NM_000262.3(NAGA):c.482C>T (p.Thr161Ile)
|
rs141557187
|
0.00013
|
NM_000292.3(PHKA2):c.3038G>A (p.Arg1013Gln)
|
rs753106449
|
0.00013
|
NM_000293.3(PHKB):c.2197-10A>T
|
rs750018974
|
0.00013
|
NM_000343.4(SLC5A1):c.1065C>T (p.Cys355=)
|
rs199702272
|
0.00013
|
NM_000404.4(GLB1):c.1715A>G (p.Gln572Arg)
|
rs183126947
|
0.00013
|
NM_000507.4(FBP1):c.334-17C>A
|
rs375155560
|
0.00013
|
NM_000512.5(GALNS):c.1414G>A (p.Val472Ile)
|
rs147290567
|
0.00013
|
NM_001040716.2(PC):c.1575G>A (p.Thr525=)
|
rs143833575
|
0.00013
|
NM_001164277.2(SLC37A4):c.1128C>T (p.Gly376=)
|
rs200713586
|
0.00013
|
NM_001164277.2(SLC37A4):c.148+20G>A
|
rs782050642
|
0.00013
|
NM_001243177.4(ALDOA):c.922G>A (p.Val308Ile)
|
rs142759891
|
0.00013
|
NM_001352514.2(HLCS):c.1330C>T (p.Arg444Trp)
|
rs139902499
|
0.00013
|
NM_001360016.2(G6PD):c.1240A>C (p.Asn414His)
|
rs201794043
|
0.00013
|
NM_001360016.2(G6PD):c.375G>C (p.Met125Ile)
|
rs782130334
|
0.00013
|
NM_001360016.2(G6PD):c.738C>T (p.Arg246=)
|
rs144341068
|
0.00013
|
NM_001370658.1(BTD):c.400-4C>T
|
rs372355662
|
0.00013
|
NM_001931.5(DLAT):c.318C>A (p.Gly106=)
|
rs201070254
|
0.00013
|
NM_002076.4(GNS):c.1420-11A>G
|
rs192263369
|
0.00013
|
NM_002637.4(PHKA1):c.1309G>A (p.Asp437Asn)
|
rs782063260
|
0.00013
|
NM_016219.5(MAN1B1):c.1950C>T (p.Pro650=)
|
rs377461918
|
0.00013
|
NM_021957.4(GYS2):c.1890+12A>G
|
rs192853475
|
0.00013
|
NM_033159.4(HYAL1):c.168C>T (p.Phe56=)
|
rs369935445
|
0.00013
|
NM_152419.3(HGSNAT):c.1128+8A>G
|
rs371054148
|
0.00013
|
NM_198586.3(NHLRC1):c.513C>T (p.Ala171=)
|
rs148907696
|
0.00013
|
NM_198586.3(NHLRC1):c.977C>A (p.Thr326Asn)
|
rs770587249
|
0.00013
|
NM_000027.4(AGA):c.698+20C>T
|
rs753356588
|
0.00012
|
NM_000046.5(ARSB):c.1197C>T (p.Phe399=)
|
rs200793396
|
0.00012
|
NM_000108.5(DLD):c.549G>A (p.Thr183=)
|
rs150630885
|
0.00012
|
NM_000151.4(G6PC1):c.793C>G (p.Leu265Val)
|
rs140224951
|
0.00012
|
NM_000151.4(G6PC1):c.948C>A (p.Ser316=)
|
rs137978566
|
0.00012
|
NM_000152.5(GAA):c.1860C>T (p.Ser620=)
|
rs370369972
|
0.00012
|
NM_000152.5(GAA):c.2331+11G>C
|
rs376709495
|
0.00012
|
NM_000152.5(GAA):c.663C>T (p.Ile221=)
|
rs142878958
|
0.00012
|
NM_000154.2(GALK1):c.1044C>T (p.Phe348=)
|
rs372653001
|
0.00012
|
NM_000158.4(GBE1):c.993-19T>C
|
rs374576644
|
0.00012
|
NM_000199.5(SGSH):c.534C>T (p.His178=)
|
rs139484283
|
0.00012
|
NM_000263.4(NAGLU):c.282C>T (p.Arg94=)
|
rs866267579
|
0.00012
|
NM_000292.3(PHKA2):c.1308T>G (p.Pro436=)
|
rs148492015
|
0.00012
|
NM_000294.3(PHKG2):c.1051G>A (p.Asp351Asn)
|
rs151033581
|
0.00012
|
NM_000308.4(CTSA):c.1089-5G>A
|
rs760742688
|
0.00012
|
NM_000308.4(CTSA):c.601-17C>A
|
rs541720263
|
0.00012
|
NM_000528.4(MAN2B1):c.1027-4G>A
|
rs368900863
|
0.00012
|
NM_001040716.2(PC):c.843C>T (p.Ala281=)
|
rs150040684
|
0.00012
|
NM_001352514.2(HLCS):c.1938G>A (p.Ala646=)
|
rs370347318
|
0.00012
|
NM_001352514.2(HLCS):c.2345A>G (p.Tyr782Cys)
|
rs200453837
|
0.00012
|
NM_001360016.2(G6PD):c.1458-12G>A
|
rs369024848
|
0.00012
|
NM_001931.5(DLAT):c.969A>C (p.Pro323=)
|
rs587627931
|
0.00012
|
NM_002103.5(GYS1):c.1308+8T>C
|
rs371156570
|
0.00012
|
NM_002294.3(LAMP2):c.1093+2485T>C
|
rs1301008847
|
0.00012
|
NM_002637.4(PHKA1):c.2370-19C>T
|
rs376822361
|
0.00012
|
NM_002863.5(PYGL):c.1629G>A (p.Lys543=)
|
rs774872592
|
0.00012
|
NM_003384.3(VRK1):c.759A>G (p.Gln253=)
|
rs150534939
|
0.00012
|
NM_005908.4(MANBA):c.1302A>G (p.Ala434=)
|
rs376135201
|
0.00012
|
NM_005908.4(MANBA):c.726C>G (p.Val242=)
|
rs376480030
|
0.00012
|
NM_016203.4(PRKAG2):c.1267C>A (p.Gln423Lys)
|
rs147349145
|
0.00012
|
NM_016203.4(PRKAG2):c.1496A>G (p.Gln499Arg)
|
rs781741013
|
0.00012
|
NM_016219.5(MAN1B1):c.1674G>A (p.Gln558=)
|
rs374793603
|
0.00012
|
NM_016219.5(MAN1B1):c.768C>T (p.Val256=)
|
rs145906530
|
0.00012
|
NM_021957.4(GYS2):c.630G>A (p.Gly210=)
|
rs201503558
|
0.00012
|
NM_024989.4(PGAP1):c.1638A>G (p.Glu546=)
|
rs142482606
|
0.00012
|
NM_033159.4(HYAL1):c.1041C>T (p.Phe347=)
|
rs377105091
|
0.00012
|
NM_152419.3(HGSNAT):c.1378-20T>G
|
rs376109017
|
0.00012
|
NM_000035.4(ALDOB):c.1011G>A (p.Gln337=)
|
rs566549564
|
0.00011
|
NM_000108.5(DLD):c.267+9G>A
|
rs188936529
|
0.00011
|
NM_000147.5(FUCA1):c.1026T>G (p.Thr342=)
|
rs771696380
|
0.00011
|
NM_000147.5(FUCA1):c.1359C>T (p.Pro453=)
|
rs147866670
|
0.00011
|
NM_000152.5(GAA):c.1872C>T (p.Leu624=)
|
rs373103422
|
0.00011
|
NM_000152.5(GAA):c.546+4G>C
|
rs550618589
|
0.00011
|
NM_000155.4(GALT):c.378-12G>A
|
rs151309174
|
0.00011
|
NM_000158.4(GBE1):c.1722T>C (p.Leu574=)
|
rs367905308
|
0.00011
|
NM_000181.4(GUSB):c.447C>T (p.Phe149=)
|
rs148364905
|
0.00011
|
NM_000181.4(GUSB):c.582-17C>T
|
rs760650363
|
0.00011
|
NM_000199.5(SGSH):c.663+13C>T
|
rs760216365
|
0.00011
|
NM_000203.5(IDUA):c.1781C>T (p.Pro594Leu)
|
rs143621769
|
0.00011
|
NM_000203.5(IDUA):c.76G>A (p.Ala26Thr)
|
rs746809894
|
0.00011
|
NM_000289.6(PFKM):c.1063-5C>T
|
rs758178966
|
0.00011
|
NM_000289.6(PFKM):c.2121G>A (p.Ser707=)
|
rs370046842
|
0.00011
|
NM_000289.6(PFKM):c.638+15C>A
|
rs376150217
|
0.00011
|
NM_000290.4(PGAM2):c.480T>C (p.Ile160=)
|
rs780650903
|
0.00011
|
NM_000292.3(PHKA2):c.1138-15T>G
|
rs199624054
|
0.00011
|
NM_000292.3(PHKA2):c.2670C>T (p.Leu890=)
|
rs143721284
|
0.00011
|
NM_000293.3(PHKB):c.1759A>C (p.Met587Leu)
|
rs140636792
|
0.00011
|
NM_000308.4(CTSA):c.1036G>A (p.Val346Met)
|
rs137941635
|
0.00011
|
NM_000308.4(CTSA):c.870-15C>T
|
rs756803626
|
0.00011
|
NM_000404.4(GLB1):c.1521G>A (p.Thr507=)
|
rs374924493
|
0.00011
|
NM_000404.4(GLB1):c.956-6T>C
|
rs779848232
|
0.00011
|
NM_000512.5(GALNS):c.1135G>A (p.Asp379Asn)
|
rs146471218
|
0.00011
|
NM_000512.5(GALNS):c.1161C>T (p.Gly387=)
|
rs376919708
|
0.00011
|
NM_000528.4(MAN2B1):c.1645-14C>T
|
rs369999433
|
0.00011
|
NM_000528.4(MAN2B1):c.2658C>G (p.Arg886=)
|
rs556554403
|
0.00011
|
NM_000642.3(AGL):c.3231G>A (p.Lys1077=)
|
rs138063386
|
0.00011
|
NM_000891.3(KCNJ2):c.132G>A (p.Arg44=)
|
rs551369705
|
0.00011
|
NM_000891.3(KCNJ2):c.168T>C (p.Val56=)
|
rs370111593
|
0.00011
|
NM_000925.4(PDHB):c.935-12T>G
|
rs200752186
|
0.00011
|
NM_001008216.2(GALE):c.492C>T (p.Ile164=)
|
rs370228054
|
0.00011
|
NM_001040716.2(PC):c.1640G>A (p.Arg547Gln)
|
rs142036463
|
0.00011
|
NM_001040716.2(PC):c.2304G>C (p.Leu768=)
|
rs61731787
|
0.00011
|
NM_001040716.2(PC):c.2783G>A (p.Arg928Gln)
|
rs755385132
|
0.00011
|
NM_001040716.2(PC):c.904-11C>T
|
rs200473405
|
0.00011
|
NM_001164277.2(SLC37A4):c.294C>T (p.Ser98=)
|
rs542959160
|
0.00011
|
NM_001352514.2(HLCS):c.2416G>A (p.Val806Ile)
|
rs368124997
|
0.00011
|
NM_001352514.2(HLCS):c.951C>T (p.Ser317=)
|
rs185480832
|
0.00011
|
NM_001360016.2(G6PD):c.121-20A>T
|
rs782444702
|
0.00011
|
NM_001370658.1(BTD):c.1362A>G (p.Glu454=)
|
rs189789794
|
0.00011
|
NM_001370658.1(BTD):c.1438C>T (p.Leu480=)
|
rs150206202
|
0.00011
|
NM_001370658.1(BTD):c.603C>T (p.Phe201=)
|
rs142418812
|
0.00011
|
NM_001931.5(DLAT):c.1743C>T (p.Asn581=)
|
rs150592352
|
0.00011
|
NM_001931.5(DLAT):c.506+9T>C
|
rs782244285
|
0.00011
|
NM_002076.4(GNS):c.577C>T (p.Arg193Trp)
|
rs144220755
|
0.00011
|
NM_002637.4(PHKA1):c.2405G>A (p.Arg802Gln)
|
rs782159405
|
0.00011
|
NM_005271.5(GLUD1):c.195C>T (p.Asn65=)
|
rs760817479
|
0.00011
|
NM_005327.7(HADH):c.144A>C (p.Ala48=)
|
rs79881095
|
0.00011
|
NM_005327.7(HADH):c.827-10C>T
|
rs372610846
|
0.00011
|
NM_005908.4(MANBA):c.530A>G (p.His177Arg)
|
rs750914797
|
0.00011
|
NM_012434.5(SLC17A5):c.94+20A>G
|
rs748801850
|
0.00011
|
NM_016203.4(PRKAG2):c.1234-17G>A
|
rs587781127
|
0.00011
|
NM_033159.4(HYAL1):c.1281G>A (p.Pro427=)
|
rs782573040
|
0.00011
|
NM_152419.3(HGSNAT):c.1779C>T (p.Phe593=)
|
rs374463372
|
0.00011
|
NM_198586.3(NHLRC1):c.27G>A (p.Gly9=)
|
rs765575310
|
0.00011
|
NM_198586.3(NHLRC1):c.478T>C (p.Cys160Arg)
|
rs200595273
|
0.00011
|
NM_000027.4(AGA):c.109A>G (p.Lys37Glu)
|
rs766776902
|
0.00010
|
NM_000046.5(ARSB):c.240G>A (p.Val80=)
|
rs368338486
|
0.00010
|
NM_000046.5(ARSB):c.914C>T (p.Thr305Ile)
|
rs199931771
|
0.00010
|
NM_000108.5(DLD):c.337+7A>G
|
rs371072449
|
0.00010
|
NM_000108.5(DLD):c.876-6A>T
|
rs199944006
|
0.00010
|
NM_000147.5(FUCA1):c.825A>T (p.Gly275=)
|
rs199675692
|
0.00010
|
NM_000152.5(GAA):c.1637-12C>T
|
rs374923144
|
0.00010
|
NM_000152.5(GAA):c.1920T>G (p.Pro640=)
|
rs144090460
|
0.00010
|
NM_000152.5(GAA):c.2319C>T (p.Tyr773=)
|
rs377402848
|
0.00010
|
NM_000152.5(GAA):c.2482-18G>A
|
rs757911622
|
0.00010
|
NM_000152.5(GAA):c.610G>A (p.Ala204Thr)
|
rs780799275
|
0.00010
|
NM_000158.4(GBE1):c.1619-9G>A
|
rs745318242
|
0.00010
|
NM_000181.4(GUSB):c.202C>T (p.Leu68=)
|
rs746199104
|
0.00010
|
NM_000199.5(SGSH):c.1062C>T (p.Ala354=)
|
rs150750383
|
0.00010
|
NM_000199.5(SGSH):c.250-15C>T
|
rs369082713
|
0.00010
|
NM_000203.5(IDUA):c.1402+8G>A
|
rs1315308939
|
0.00010
|
NM_000262.3(NAGA):c.618G>A (p.Ala206=)
|
rs200770245
|
0.00010
|
NM_000263.4(NAGLU):c.723G>A (p.Val241=)
|
rs140945842
|
0.00010
|
NM_000284.4(PDHA1):c.984T>C (p.Asn328=)
|
rs767503319
|
0.00010
|
NM_000293.3(PHKB):c.714G>A (p.Ser238=)
|
rs772326970
|
0.00010
|
NM_000340.2(SLC2A2):c.1251G>A (p.Pro417=)
|
rs371657103
|
0.00010
|
NM_000404.4(GLB1):c.1480-8C>G
|
rs753129246
|
0.00010
|
NM_000404.4(GLB1):c.1529C>T (p.Thr510Met)
|
rs1803198
|
0.00010
|
NM_000528.4(MAN2B1):c.2040G>A (p.Leu680=)
|
rs147342488
|
0.00010
|
NM_000528.4(MAN2B1):c.2166-18C>T
|
rs368669177
|
0.00010
|
NM_000642.3(AGL):c.1284-4A>G
|
rs372612377
|
0.00010
|
NM_000891.3(KCNJ2):c.867C>T (p.Asn289=)
|
rs201909993
|
0.00010
|
NM_001040716.2(PC):c.2223+20G>A
|
rs550066048
|
0.00010
|
NM_001040716.2(PC):c.2224-14C>T
|
rs780315450
|
0.00010
|
NM_001164277.2(SLC37A4):c.150G>T (p.Gly50=)
|
rs202137454
|
0.00010
|
NM_001352514.2(HLCS):c.1194C>T (p.Thr398=)
|
rs149877080
|
0.00010
|
NM_001352514.2(HLCS):c.2512G>A (p.Asp838Asn)
|
rs139697458
|
0.00010
|
NM_001352514.2(HLCS):c.462G>A (p.Met154Ile)
|
rs183589811
|
0.00010
|
NM_001352514.2(HLCS):c.703G>A (p.Asp235Asn)
|
rs373951547
|
0.00010
|
NM_001360016.2(G6PD):c.957C>T (p.Thr319=)
|
rs199702562
|
0.00010
|
NM_001360016.2(G6PD):c.990C>T (p.Arg330=)
|
rs782064465
|
0.00010
|
NM_001370658.1(BTD):c.645C>A (p.Pro215=)
|
rs140769832
|
0.00010
|
NM_001739.2(CA5A):c.459+10C>T
|
rs368408382
|
0.00010
|
NM_002076.4(GNS):c.1419+8G>A
|
rs760970543
|
0.00010
|
NM_002103.5(GYS1):c.942-20G>A
|
rs368204451
|
0.00010
|
NM_002637.4(PHKA1):c.778C>T (p.Leu260Phe)
|
rs781803498
|
0.00010
|
NM_003384.3(VRK1):c.161-14A>G
|
rs375176918
|
0.00010
|
NM_005566.4(LDHA):c.711-8T>A
|
rs200483406
|
0.00010
|
NM_005908.4(MANBA):c.2601G>A (p.Glu867=)
|
rs746506717
|
0.00010
|
NM_016203.4(PRKAG2):c.425C>T (p.Thr142Ile)
|
rs397517270
|
0.00010
|
NM_021957.4(GYS2):c.526G>A (p.Val176Ile)
|
rs752277622
|
0.00010
|
NM_024989.4(PGAP1):c.108G>A (p.Lys36=)
|
rs753729948
|
0.00010
|
NM_031229.4(RBCK1):c.746A>G (p.Gln249Arg)
|
rs763971799
|
0.00010
|
NM_053013.4(ENO3):c.181+5G>A
|
rs200793919
|
0.00010
|
NM_053013.4(ENO3):c.444+20C>T
|
rs778632605
|
0.00010
|
NM_053013.4(ENO3):c.866-34_866-13del
|
rs1322708822
|
0.00010
|
NM_000027.4(AGA):c.150A>T (p.Gly50=)
|
rs143210437
|
0.00009
|
NM_000046.5(ARSB):c.1122C>T (p.Phe374=)
|
rs149886659
|
0.00009
|
NM_000046.5(ARSB):c.312+8G>C
|
rs774555967
|
0.00009
|
NM_000152.5(GAA):c.1076-16C>T
|
rs367704731
|
0.00009
|
NM_000152.5(GAA):c.1302C>T (p.Gly434=)
|
rs752231775
|
0.00009
|
NM_000152.5(GAA):c.1482A>G (p.Thr494=)
|
rs202064115
|
0.00009
|
NM_000152.5(GAA):c.1818C>T (p.His606=)
|
rs374368644
|
0.00009
|
NM_000152.5(GAA):c.297C>T (p.Thr99=)
|
rs771846178
|
0.00009
|
NM_000152.5(GAA):c.664G>A (p.Val222Met)
|
rs374569672
|
0.00009
|
NM_000152.5(GAA):c.711G>A (p.Ala237=)
|
rs368328598
|
0.00009
|
NM_000154.2(GALK1):c.1116C>T (p.Tyr372=)
|
rs763195503
|
0.00009
|
NM_000154.2(GALK1):c.60C>T (p.Phe20=)
|
rs556192480
|
0.00009
|
NM_000158.4(GBE1):c.691+15T>C
|
rs370417249
|
0.00009
|
NM_000181.4(GUSB):c.1244+17C>T
|
rs199587731
|
0.00009
|
NM_000199.5(SGSH):c.417G>A (p.Thr139=)
|
rs142729872
|
0.00009
|
NM_000199.5(SGSH):c.506+9C>T
|
rs376523398
|
0.00009
|
NM_000199.5(SGSH):c.636C>T (p.Pro212=)
|
rs771680187
|
0.00009
|
NM_000203.5(IDUA):c.240C>G (p.Val80=)
|
rs373277285
|
0.00009
|
NM_000263.4(NAGLU):c.1905C>T (p.Ala635=)
|
rs138324133
|
0.00009
|
NM_000263.4(NAGLU):c.631G>A (p.Asp211Asn)
|
rs145452809
|
0.00009
|
NM_000284.4(PDHA1):c.1159A>C (p.Lys387Gln)
|
rs201156613
|
0.00009
|
NM_000289.6(PFKM):c.597C>T (p.His199=)
|
rs554169766
|
0.00009
|
NM_000289.6(PFKM):c.747+10C>T
|
rs1372921221
|
0.00009
|
NM_000292.3(PHKA2):c.477C>T (p.Leu159=)
|
rs187396860
|
0.00009
|
NM_000293.3(PHKB):c.1798-20T>C
|
rs758115079
|
0.00009
|
NM_000293.3(PHKB):c.2427+969C>T
|
rs1131063
|
0.00009
|
NM_000293.3(PHKB):c.391C>T (p.Arg131Cys)
|
rs202167409
|
0.00009
|
NM_000293.3(PHKB):c.491A>G (p.Tyr164Cys)
|
rs144211929
|
0.00009
|
NM_000308.4(CTSA):c.201G>A (p.Val67=)
|
rs149268665
|
0.00009
|
NM_000340.2(SLC2A2):c.963+18C>T
|
rs752640585
|
0.00009
|
NM_000404.4(GLB1):c.1257G>A (p.Arg419=)
|
rs754660496
|
0.00009
|
NM_000404.4(GLB1):c.552+18C>T
|
rs779369835
|
0.00009
|
NM_000404.4(GLB1):c.734-10C>A
|
rs181971321
|
0.00009
|
NM_000512.5(GALNS):c.138C>T (p.Leu46=)
|
rs140588640
|
0.00009
|
NM_000512.5(GALNS):c.857C>T (p.Thr286Met)
|
rs137927658
|
0.00009
|
NM_000528.4(MAN2B1):c.126G>C (p.Leu42=)
|
rs900625808
|
0.00009
|
NM_000528.4(MAN2B1):c.474C>T (p.Asn158=)
|
rs146331898
|
0.00009
|
NM_000528.4(MAN2B1):c.744G>A (p.Pro248=)
|
rs3745649
|
0.00009
|
NM_000528.4(MAN2B1):c.789G>A (p.Pro263=)
|
rs149484019
|
0.00009
|
NM_000642.3(AGL):c.2930G>A (p.Arg977Gln)
|
rs147977213
|
0.00009
|
NM_000642.3(AGL):c.3696C>T (p.Asp1232=)
|
rs143076729
|
0.00009
|
NM_000891.3(KCNJ2):c.327C>T (p.Leu109=)
|
rs140274795
|
0.00009
|
NM_000891.3(KCNJ2):c.60G>A (p.Lys20=)
|
rs768120590
|
0.00009
|
NM_000925.4(PDHB):c.501G>T (p.Gly167=)
|
rs759053641
|
0.00009
|
NM_001040716.2(PC):c.2718+14G>A
|
rs745905844
|
0.00009
|
NM_001352514.2(HLCS):c.2088C>T (p.Val696=)
|
rs150794567
|
0.00009
|
NM_001352514.2(HLCS):c.2283C>T (p.Asn761=)
|
rs138387445
|
0.00009
|
NM_001370658.1(BTD):c.1047G>A (p.Pro349=)
|
rs140890299
|
0.00009
|
NM_001739.2(CA5A):c.244C>A (p.Pro82Thr)
|
rs377135599
|
0.00009
|
NM_001739.2(CA5A):c.774+7C>T
|
rs373877038
|
0.00009
|
NM_001931.5(DLAT):c.1374G>A (p.Leu458=)
|
rs147264946
|
0.00009
|
NM_001931.5(DLAT):c.1692G>A (p.Thr564=)
|
rs185907405
|
0.00009
|
NM_002076.4(GNS):c.624+10A>G
|
rs757526895
|
0.00009
|
NM_002103.5(GYS1):c.1305G>A (p.Thr435=)
|
rs147610727
|
0.00009
|
NM_002294.3(LAMP2):c.42C>T (p.Leu14=)
|
rs727503122
|
0.00009
|
NM_002863.5(PYGL):c.1119C>T (p.Phe373=)
|
rs151022264
|
0.00009
|
NM_003384.3(VRK1):c.216+19A>G
|
rs200465413
|
0.00009
|
NM_004130.4(GYG1):c.45C>T (p.Tyr15=)
|
rs201443260
|
0.00009
|
NM_005271.5(GLUD1):c.102G>C (p.Arg34=)
|
rs896457764
|
0.00009
|
NM_005271.5(GLUD1):c.468G>A (p.Val156=)
|
rs780979729
|
0.00009
|
NM_005566.4(LDHA):c.162C>T (p.Ile54=)
|
rs200075826
|
0.00009
|
NM_005566.4(LDHA):c.435C>T (p.Tyr145=)
|
rs770829264
|
0.00009
|
NM_005566.4(LDHA):c.57C>T (p.Pro19=)
|
rs11553870
|
0.00009
|
NM_005609.4(PYGM):c.1403+5G>A
|
rs373040789
|
0.00009
|
NM_005609.4(PYGM):c.540C>T (p.Ala180=)
|
rs148731983
|
0.00009
|
NM_005609.4(PYGM):c.63C>T (p.Gly21=)
|
rs368124628
|
0.00009
|
NM_005609.4(PYGM):c.877C>T (p.Arg293Trp)
|
rs558267822
|
0.00009
|
NM_006859.4(LIAS):c.129A>G (p.Pro43=)
|
rs377315137
|
0.00009
|
NM_006859.4(LIAS):c.60T>C (p.Tyr20=)
|
rs201996792
|
0.00009
|
NM_016203.4(PRKAG2):c.1644G>A (p.Ser548=)
|
rs376450705
|
0.00009
|
NM_016203.4(PRKAG2):c.187-4G>A
|
rs752294420
|
0.00009
|
NM_016203.4(PRKAG2):c.455G>A (p.Arg152His)
|
rs765374050
|
0.00009
|
NM_016203.4(PRKAG2):c.594G>A (p.Pro198=)
|
rs397517276
|
0.00009
|
NM_016203.4(PRKAG2):c.819C>T (p.Ile273=)
|
rs764244463
|
0.00009
|
NM_016219.5(MAN1B1):c.1011G>C (p.Gly337=)
|
rs142836717
|
0.00009
|
NM_016219.5(MAN1B1):c.621-5C>T
|
rs200585294
|
0.00009
|
NM_016219.5(MAN1B1):c.731-4C>T
|
rs368940533
|
0.00009
|
NM_152419.3(HGSNAT):c.699A>G (p.Leu233=)
|
rs756091468
|
0.00009
|
NM_152419.3(HGSNAT):c.741G>A (p.Arg247=)
|
rs775663094
|
0.00009
|
NM_198586.3(NHLRC1):c.1091C>T (p.Ser364Leu)
|
rs78324544
|
0.00009
|
NM_000046.5(ARSB):c.1152C>T (p.Ser384=)
|
rs747829428
|
0.00008
|
NM_000046.5(ARSB):c.918G>A (p.Leu306=)
|
rs755631948
|
0.00008
|
NM_000108.5(DLD):c.1452T>C (p.Cys484=)
|
rs760982359
|
0.00008
|
NM_000147.5(FUCA1):c.1077G>A (p.Gly359=)
|
rs777813005
|
0.00008
|
NM_000147.5(FUCA1):c.970-20A>G
|
rs371684711
|
0.00008
|
NM_000151.4(G6PC1):c.657C>T (p.Phe219=)
|
rs201520075
|
0.00008
|
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln)
|
rs2229224
|
0.00008
|
NM_000152.5(GAA):c.2041-4G>T
|
rs775757700
|
0.00008
|
NM_000152.5(GAA):c.2320G>A (p.Asp774Asn)
|
rs758390382
|
0.00008
|
NM_000152.5(GAA):c.2604G>A (p.Leu868=)
|
rs772250523
|
0.00008
|
NM_000158.4(GBE1):c.1522C>G (p.Pro508Ala)
|
rs200544679
|
0.00008
|
NM_000158.4(GBE1):c.1995C>T (p.His665=)
|
rs201515305
|
0.00008
|
NM_000181.4(GUSB):c.211-18C>T
|
rs774828816
|
0.00008
|
NM_000199.5(SGSH):c.1104C>T (p.His368=)
|
rs111800668
|
0.00008
|
NM_000199.5(SGSH):c.155C>T (p.Ala52Val)
|
rs758203457
|
0.00008
|
NM_000202.8(IDS):c.1006+8T>C
|
rs782781942
|
0.00008
|
NM_000202.8(IDS):c.304C>T (p.Leu102=)
|
rs782790524
|
0.00008
|
NM_000202.8(IDS):c.929A>G (p.Gln310Arg)
|
rs782210625
|
0.00008
|
NM_000263.4(NAGLU):c.1914C>T (p.Tyr638=)
|
rs369789056
|
0.00008
|
NM_000263.4(NAGLU):c.873C>T (p.Ile291=)
|
rs146734024
|
0.00008
|
NM_000284.4(PDHA1):c.134G>A (p.Arg45Gln)
|
rs144967854
|
0.00008
|
NM_000289.6(PFKM):c.1155C>T (p.Tyr385=)
|
rs146318448
|
0.00008
|
NM_000289.6(PFKM):c.1501-15C>T
|
rs756212415
|
0.00008
|
NM_000293.3(PHKB):c.321C>T (p.Asp107=)
|
rs148782229
|
0.00008
|
NM_000293.3(PHKB):c.932T>C (p.Val311Ala)
|
rs149685822
|
0.00008
|
NM_000340.2(SLC2A2):c.39T>C (p.Thr13=)
|
rs375465762
|
0.00008
|
NM_000404.4(GLB1):c.1601A>G (p.His534Arg)
|
rs770982909
|
0.00008
|
NM_000512.5(GALNS):c.1003-19T>C
|
rs368105385
|
0.00008
|
NM_000512.5(GALNS):c.969C>T (p.Leu323=)
|
rs373218044
|
0.00008
|
NM_000528.4(MAN2B1):c.1929-16C>T
|
rs774404642
|
0.00008
|
NM_000528.4(MAN2B1):c.2020C>T (p.Arg674Cys)
|
rs770791374
|
0.00008
|
NM_000528.4(MAN2B1):c.2640T>C (p.Asn880=)
|
rs763786776
|
0.00008
|
NM_000528.4(MAN2B1):c.274A>G (p.Ile92Val)
|
rs751849414
|
0.00008
|
NM_000528.4(MAN2B1):c.2886C>T (p.Arg962=)
|
rs142797984
|
0.00008
|
NM_000642.3(AGL):c.3290G>A (p.Arg1097His)
|
rs185947256
|
0.00008
|
NM_001040716.2(PC):c.1874G>A (p.Arg625Gln)
|
rs199568784
|
0.00008
|
NM_001040716.2(PC):c.474C>T (p.Ile158=)
|
rs767537673
|
0.00008
|
NM_001164277.2(SLC37A4):c.201T>C (p.Ser67=)
|
rs372405501
|
0.00008
|
NM_001352514.2(HLCS):c.1291G>A (p.Val431Ile)
|
rs376903098
|
0.00008
|
NM_001352514.2(HLCS):c.1923C>T (p.Gly641=)
|
rs746277054
|
0.00008
|
NM_001360016.2(G6PD):c.1051+16G>A
|
rs782637386
|
0.00008
|
NM_001360016.2(G6PD):c.1405C>T (p.Leu469=)
|
rs369482861
|
0.00008
|
NM_001365304.2(LOC112694756):c.*622-5C>T
|
rs752764982
|
0.00008
|
NM_001739.2(CA5A):c.624G>A (p.Ala208=)
|
rs370926490
|
0.00008
|
NM_002076.4(GNS):c.462C>T (p.Tyr154=)
|
rs139536679
|
0.00008
|
NM_002103.5(GYS1):c.1083A>G (p.Thr361=)
|
rs149865396
|
0.00008
|
NM_002103.5(GYS1):c.1551T>G (p.Ala517=)
|
rs368021148
|
0.00008
|
NM_002103.5(GYS1):c.441G>A (p.Glu147=)
|
rs115793204
|
0.00008
|
NM_002637.4(PHKA1):c.1998C>T (p.His666=)
|
rs368673487
|
0.00008
|
NM_002637.4(PHKA1):c.2160G>A (p.Thr720=)
|
rs368071005
|
0.00008
|
NM_002637.4(PHKA1):c.538-20T>C
|
rs782786358
|
0.00008
|
NM_005327.7(HADH):c.240G>A (p.Lys80=)
|
rs748623569
|
0.00008
|
NM_005609.4(PYGM):c.1110G>A (p.Val370=)
|
rs372719040
|
0.00008
|
NM_005609.4(PYGM):c.120C>T (p.Leu40=)
|
rs370819554
|
0.00008
|
NM_005609.4(PYGM):c.1347G>T (p.Gly449=)
|
rs141152121
|
0.00008
|
NM_005908.4(MANBA):c.2311G>T (p.Val771Phe)
|
rs201779762
|
0.00008
|
NM_016203.4(PRKAG2):c.1304A>G (p.Asn435Ser)
|
rs200589374
|
0.00008
|
NM_016203.4(PRKAG2):c.429G>A (p.Ser143=)
|
rs757727533
|
0.00008
|
NM_024989.4(PGAP1):c.36G>A (p.Ala12=)
|
rs755772242
|
0.00008
|
NM_024989.4(PGAP1):c.650-6C>T
|
rs371032957
|
0.00008
|
NM_033159.4(HYAL1):c.981A>G (p.Thr327=)
|
rs146431309
|
0.00008
|
NM_152419.3(HGSNAT):c.339G>A (p.Leu113=)
|
rs1373363345
|
0.00008
|
NM_152419.3(HGSNAT):c.479T>C (p.Val160Ala)
|
rs369469113
|
0.00008
|
NM_152419.3(HGSNAT):c.682C>A (p.Pro228Thr)
|
rs369975831
|
0.00008
|
NM_198586.3(NHLRC1):c.933G>T (p.Gly311=)
|
rs527299943
|
0.00008
|
NM_000027.4(AGA):c.127+13G>A
|
rs376430029
|
0.00007
|
NM_000108.5(DLD):c.119-4G>A
|
rs376605135
|
0.00007
|
NM_000152.5(GAA):c.1636+8C>T
|
rs572293131
|
0.00007
|
NM_000152.5(GAA):c.2157G>A (p.Ala719=)
|
rs201523530
|
0.00007
|
NM_000152.5(GAA):c.2189+10C>T
|
rs750905127
|
0.00007
|
NM_000158.4(GBE1):c.1389G>A (p.Thr463=)
|
rs757933285
|
0.00007
|
NM_000158.4(GBE1):c.1965G>A (p.Ala655=)
|
rs762480067
|
0.00007
|
NM_000181.4(GUSB):c.1402G>A (p.Ala468Thr)
|
rs752854143
|
0.00007
|
NM_000199.5(SGSH):c.355+11C>T
|
rs529329090
|
0.00007
|
NM_000199.5(SGSH):c.720C>T (p.Tyr240=)
|
rs367654527
|
0.00007
|
NM_000202.8(IDS):c.1085A>G (p.Tyr362Cys)
|
rs141037133
|
0.00007
|
NM_000202.8(IDS):c.421A>T (p.Ile141Leu)
|
rs781999172
|
0.00007
|
NM_000203.5(IDUA):c.882C>T (p.Pro294=)
|
rs762825338
|
0.00007
|
NM_000263.4(NAGLU):c.1074G>A (p.Pro358=)
|
rs760335984
|
0.00007
|
NM_000289.6(PFKM):c.594-18T>A
|
rs372899080
|
0.00007
|
NM_000290.4(PGAM2):c.264T>C (p.Asn88=)
|
rs146272559
|
0.00007
|
NM_000340.2(SLC2A2):c.1269G>T (p.Val423=)
|
rs191885528
|
0.00007
|
NM_000340.2(SLC2A2):c.496+6_496+7dup
|
rs111737375
|
0.00007
|
NM_000343.4(SLC5A1):c.1524C>T (p.Thr508=)
|
rs201895474
|
0.00007
|
NM_000343.4(SLC5A1):c.537A>G (p.Leu179=)
|
rs373939295
|
0.00007
|
NM_000404.4(GLB1):c.402A>T (p.Gly134=)
|
rs371195938
|
0.00007
|
NM_000512.5(GALNS):c.120+14G>A
|
rs368397682
|
0.00007
|
NM_000528.4(MAN2B1):c.1419+11C>A
|
rs375081677
|
0.00007
|
NM_000528.4(MAN2B1):c.2047-12G>A
|
rs769284524
|
0.00007
|
NM_000642.3(AGL):c.2546+9A>G
|
rs541210799
|
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_000891.3(KCNJ2):c.1080C>T (p.Asp360=)
|
rs66476803
|
0.00007
|
NM_000925.4(PDHB):c.477A>C (p.Ser159=)
|
rs569429778
|
0.00007
|
NM_000925.4(PDHB):c.669T>C (p.Ile223=)
|
rs573987651
|
0.00007
|
NM_001008216.2(GALE):c.237+20G>A
|
rs370761057
|
0.00007
|
NM_001008216.2(GALE):c.795+8G>C
|
rs374975277
|
0.00007
|
NM_001040716.2(PC):c.1513+10G>A
|
rs200660481
|
0.00007
|
NM_001040716.2(PC):c.1833G>A (p.Thr611=)
|
rs138796998
|
0.00007
|
NM_001040716.2(PC):c.3321C>T (p.Asp1107=)
|
rs758911778
|
0.00007
|
NM_001040716.2(PC):c.918C>T (p.Asn306=)
|
rs372125858
|
0.00007
|
NM_001164277.2(SLC37A4):c.567T>C (p.Asn189=)
|
rs368678559
|
0.00007
|
NM_001352514.2(HLCS):c.1669G>A (p.Glu557Lys)
|
rs745652723
|
0.00007
|
NM_001352514.2(HLCS):c.816C>T (p.Ala272=)
|
rs376665169
|
0.00007
|
NM_001360016.2(G6PD):c.1052-19T>C
|
rs782238350
|
0.00007
|
NM_001370658.1(BTD):c.1344C>T (p.Phe448=)
|
rs781065270
|
0.00007
|
NM_001370658.1(BTD):c.1539G>A (p.Ala513=)
|
rs745376296
|
0.00007
|
NM_001931.5(DLAT):c.1290+17C>T
|
rs374530178
|
0.00007
|
NM_001931.5(DLAT):c.177C>T (p.Cys59=)
|
rs150994149
|
0.00007
|
NM_001931.5(DLAT):c.506+12G>A
|
rs372355218
|
0.00007
|
NM_001931.5(DLAT):c.870C>T (p.Leu290=)
|
rs587754043
|
0.00007
|
NM_002076.4(GNS):c.1201-9T>C
|
rs775176361
|
0.00007
|
NM_002103.5(GYS1):c.300+7C>T
|
rs759904590
|
0.00007
|
NM_005566.4(LDHA):c.127-14T>C
|
rs764597107
|
0.00007
|
NM_005609.4(PYGM):c.2031C>T (p.Thr677=)
|
rs372078244
|
0.00007
|
NM_005609.4(PYGM):c.2182A>G (p.Asn728Asp)
|
rs200058475
|
0.00007
|
NM_005609.4(PYGM):c.2379+8G>A
|
rs536129249
|
0.00007
|
NM_005908.4(MANBA):c.303G>A (p.Glu101=)
|
rs113552770
|
0.00007
|
NM_006859.4(LIAS):c.1116C>G (p.Leu372=)
|
rs376183576
|
0.00007
|
NM_016203.4(PRKAG2):c.1641G>T (p.Leu547=)
|
rs764198777
|
0.00007
|
NM_016203.4(PRKAG2):c.187-16G>A
|
rs762396341
|
0.00007
|
NM_016219.5(MAN1B1):c.1065+11T>C
|
rs200147487
|
0.00007
|
NM_016219.5(MAN1B1):c.711C>T (p.Ala237=)
|
rs781675627
|
0.00007
|
NM_033159.4(HYAL1):c.1050C>T (p.Asn350=)
|
rs148913295
|
0.00007
|
NM_033159.4(HYAL1):c.936C>T (p.Ala312=)
|
rs375213606
|
0.00007
|
NM_000027.4(AGA):c.105C>G (p.Pro35=)
|
rs199757656
|
0.00006
|
NM_000027.4(AGA):c.623-13T>G
|
rs778434616
|
0.00006
|
NM_000035.4(ALDOB):c.501C>T (p.Asn167=)
|
rs186836225
|
0.00006
|
NM_000035.4(ALDOB):c.849C>T (p.Asn283=)
|
rs202062631
|
0.00006
|
NM_000046.5(ARSB):c.1155A>G (p.Pro385=)
|
rs778672342
|
0.00006
|
NM_000108.5(DLD):c.609T>C (p.Ser203=)
|
rs144590106
|
0.00006
|
NM_000147.5(FUCA1):c.1179G>A (p.Ser393=)
|
rs370306169
|
0.00006
|
NM_000147.5(FUCA1):c.861C>T (p.Ser287=)
|
rs200962094
|
0.00006
|
NM_000151.4(G6PC1):c.18T>C (p.Asn6=)
|
rs144652516
|
0.00006
|
NM_000151.4(G6PC1):c.340+13del
|
rs781668568
|
0.00006
|
NM_000152.5(GAA):c.1143C>T (p.Thr381=)
|
rs111832449
|
0.00006
|
NM_000152.5(GAA):c.1195-15G>A
|
rs373840229
|
0.00006
|
NM_000152.5(GAA):c.1356C>T (p.Ala452=)
|
rs757893858
|
0.00006
|
NM_000152.5(GAA):c.1725C>T (p.Tyr575=)
|
rs112517802
|
0.00006
|
NM_000152.5(GAA):c.1754+17G>A
|
rs769797291
|
0.00006
|
NM_000152.5(GAA):c.1823G>A (p.Arg608Gln)
|
rs377126280
|
0.00006
|
NM_000152.5(GAA):c.693-5C>T
|
rs763538104
|
0.00006
|
NM_000152.5(GAA):c.858+15G>A
|
rs754760986
|
0.00006
|
NM_000152.5(GAA):c.955+15G>A
|
rs778687044
|
0.00006
|
NM_000154.2(GALK1):c.165+6G>A
|
rs779996721
|
0.00006
|
NM_000154.2(GALK1):c.657C>T (p.Ala219=)
|
rs754593748
|
0.00006
|
NM_000155.4(GALT):c.1128A>T (p.Ala376=)
|
rs781374930
|
0.00006
|
NM_000155.4(GALT):c.211C>T (p.Leu71Phe)
|
rs143994870
|
0.00006
|
NM_000155.4(GALT):c.252+9G>A
|
rs200439493
|
0.00006
|
NM_000155.4(GALT):c.821-46G>T
|
rs111033776
|
0.00006
|
NM_000158.4(GBE1):c.1406A>G (p.Tyr469Cys)
|
rs760661724
|
0.00006
|
NM_000181.4(GUSB):c.1066-5C>T
|
rs376501876
|
0.00006
|
NM_000181.4(GUSB):c.807C>T (p.Val269=)
|
rs571704452
|
0.00006
|
NM_000199.5(SGSH):c.1302G>A (p.Ala434=)
|
rs376787615
|
0.00006
|
NM_000199.5(SGSH):c.397C>A (p.Pro133Thr)
|
rs199643693
|
0.00006
|
NM_000199.5(SGSH):c.410C>T (p.Ala137Val)
|
rs367805575
|
0.00006
|
NM_000199.5(SGSH):c.432C>T (p.Ser144=)
|
rs200194908
|
0.00006
|
NM_000199.5(SGSH):c.840C>T (p.Ser280=)
|
rs146904798
|
0.00006
|
NM_000202.8(IDS):c.357C>T (p.Ile119=)
|
rs782362742
|
0.00006
|
NM_000202.8(IDS):c.419-10T>G
|
rs782082376
|
0.00006
|
NM_000203.5(IDUA):c.1190-16C>T
|
rs1189052495
|
0.00006
|
NM_000203.5(IDUA):c.1403-6C>G
|
rs764919689
|
0.00006
|
NM_000203.5(IDUA):c.1800G>A (p.Ser600=)
|
rs763047621
|
0.00006
|
NM_000203.5(IDUA):c.765G>C (p.Arg255=)
|
rs965929339
|
0.00006
|
NM_000203.5(IDUA):c.894C>T (p.Asp298=)
|
rs1031564096
|
0.00006
|
NM_000203.5(IDUA):c.981G>T (p.Ala327=)
|
rs372379342
|
0.00006
|
NM_000262.3(NAGA):c.324+7C>T
|
rs372174335
|
0.00006
|
NM_000262.3(NAGA):c.502+8A>T
|
rs375946807
|
0.00006
|
NM_000263.4(NAGLU):c.1272C>T (p.Asn424=)
|
rs200715586
|
0.00006
|
NM_000263.4(NAGLU):c.1335C>T (p.Pro445=)
|
rs202033889
|
0.00006
|
NM_000263.4(NAGLU):c.627C>G (p.Thr209=)
|
rs200496310
|
0.00006
|
NM_000289.6(PFKM):c.238-17T>A
|
rs377146498
|
0.00006
|
NM_000290.4(PGAM2):c.36C>T (p.Gly12=)
|
rs369660945
|
0.00006
|
NM_000292.3(PHKA2):c.3567G>A (p.Glu1189=)
|
rs773943898
|
0.00006
|
NM_000293.3(PHKB):c.1599G>A (p.Glu533=)
|
rs756341301
|
0.00006
|
NM_000293.3(PHKB):c.2136G>A (p.Pro712=)
|
rs200274360
|
0.00006
|
NM_000294.3(PHKG2):c.318G>T (p.Val106=)
|
rs199743139
|
0.00006
|
NM_000308.4(CTSA):c.1110C>T (p.Tyr370=)
|
rs372617705
|
0.00006
|
NM_000404.4(GLB1):c.1735-10C>G
|
rs766907320
|
0.00006
|
NM_000404.4(GLB1):c.1911G>A (p.Thr637=)
|
rs549550701
|
0.00006
|
NM_000404.4(GLB1):c.915-17C>A
|
rs371566143
|
0.00006
|
NM_000507.4(FBP1):c.195C>T (p.Asn65=)
|
rs146859261
|
0.00006
|
NM_000507.4(FBP1):c.915C>T (p.Asp305=)
|
rs762285012
|
0.00006
|
NM_000512.5(GALNS):c.1071G>A (p.Pro357=)
|
rs374619390
|
0.00006
|
NM_000512.5(GALNS):c.1186G>A (p.Gly396Arg)
|
rs371459975
|
0.00006
|
NM_000512.5(GALNS):c.1269C>T (p.Asn423=)
|
rs148709901
|
0.00006
|
NM_000512.5(GALNS):c.360G>A (p.Ser120=)
|
rs368060807
|
0.00006
|
NM_000512.5(GALNS):c.39G>A (p.Leu13=)
|
rs767326423
|
0.00006
|
NM_000512.5(GALNS):c.665G>A (p.Arg222Gln)
|
rs140162658
|
0.00006
|
NM_000512.5(GALNS):c.909C>T (p.Asn303=)
|
rs751446283
|
0.00006
|
NM_000528.4(MAN2B1):c.1309+17A>C
|
rs762485011
|
0.00006
|
NM_000528.4(MAN2B1):c.1310-9T>C
|
rs756430947
|
0.00006
|
NM_000528.4(MAN2B1):c.1528-8C>T
|
rs369305495
|
0.00006
|
NM_000528.4(MAN2B1):c.2007G>A (p.Pro669=)
|
rs762152042
|
0.00006
|
NM_000528.4(MAN2B1):c.2607G>T (p.Val869=)
|
rs755344489
|
0.00006
|
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg)
|
rs754733253
|
0.00006
|
NM_000528.4(MAN2B1):c.642C>T (p.Asp214=)
|
rs755806804
|
0.00006
|
NM_000642.3(AGL):c.103T>C (p.Leu35=)
|
rs370307706
|
0.00006
|
NM_000642.3(AGL):c.2308+9A>G
|
rs760352106
|
0.00006
|
NM_000642.3(AGL):c.2607A>G (p.Gln869=)
|
rs747817359
|
0.00006
|
NM_000642.3(AGL):c.609A>G (p.Lys203=)
|
rs186709388
|
0.00006
|
NM_000891.3(KCNJ2):c.366T>C (p.Cys122=)
|
rs748924113
|
0.00006
|
NM_000891.3(KCNJ2):c.51C>T (p.Asp17=)
|
rs141965142
|
0.00006
|
NM_000925.4(PDHB):c.8C>T (p.Ala3Val)
|
rs536872599
|
0.00006
|
NM_000925.4(PDHB):c.937C>G (p.Pro313Ala)
|
rs201105914
|
0.00006
|
NM_001008216.2(GALE):c.873+7C>A
|
rs746500876
|
0.00006
|
NM_001040716.2(PC):c.1589C>T (p.Pro530Leu)
|
rs370248734
|
0.00006
|
NM_001040716.2(PC):c.3513C>T (p.Asp1171=)
|
rs763623526
|
0.00006
|
NM_001040716.2(PC):c.975C>G (p.Val325=)
|
rs374244283
|
0.00006
|
NM_001164277.2(SLC37A4):c.1125-7_1125-6del
|
rs782342989
|
0.00006
|
NM_001164277.2(SLC37A4):c.149-16G>A
|
rs373027415
|
0.00006
|
NM_001164277.2(SLC37A4):c.84C>G (p.Arg28=)
|
rs568517935
|
0.00006
|
NM_001164277.2(SLC37A4):c.972T>C (p.Ser324=)
|
rs781824710
|
0.00006
|
NM_001243177.4(ALDOA):c.1107C>T (p.Gly369=)
|
rs142315181
|
0.00006
|
NM_001352514.2(HLCS):c.1068G>A (p.Pro356=)
|
rs73196003
|
0.00006
|
NM_001352514.2(HLCS):c.1686C>G (p.Ser562=)
|
rs141905941
|
0.00006
|
NM_001352514.2(HLCS):c.2352C>T (p.Ile784=)
|
rs150263699
|
0.00006
|
NM_001352514.2(HLCS):c.2450+7G>C
|
rs373944714
|
0.00006
|
NM_001352514.2(HLCS):c.689G>A (p.Ser230Asn)
|
rs761147008
|
0.00006
|
NM_001360016.2(G6PD):c.1014A>G (p.Ala338=)
|
rs1401465965
|
0.00006
|
NM_001360016.2(G6PD):c.1272C>T (p.Tyr424=)
|
rs186843026
|
0.00006
|
NM_001360016.2(G6PD):c.795G>A (p.Leu265=)
|
rs374222477
|
0.00006
|
NM_001370658.1(BTD):c.1528C>G (p.Leu510Val)
|
rs201852672
|
0.00006
|
NM_001370658.1(BTD):c.522C>T (p.Phe174=)
|
rs750363004
|
0.00006
|
NM_001739.2(CA5A):c.267G>A (p.Ala89=)
|
rs377436710
|
0.00006
|
NM_001739.2(CA5A):c.450C>T (p.Tyr150=)
|
rs368084033
|
0.00006
|
NM_001739.2(CA5A):c.720C>A (p.Thr240=)
|
rs547918689
|
0.00006
|
NM_001931.5(DLAT):c.1035A>G (p.Pro345=)
|
rs140302942
|
0.00006
|
NM_001931.5(DLAT):c.1735A>G (p.Ile579Val)
|
rs371341957
|
0.00006
|
NM_001931.5(DLAT):c.606G>A (p.Ser202=)
|
rs148153443
|
0.00006
|
NM_001931.5(DLAT):c.675C>T (p.Ala225=)
|
rs782220140
|
0.00006
|
NM_001931.5(DLAT):c.681T>C (p.Ser227=)
|
rs781985635
|
0.00006
|
NM_002076.4(GNS):c.156C>T (p.Leu52=)
|
rs951936514
|
0.00006
|
NM_002076.4(GNS):c.30G>A (p.Arg10=)
|
rs753033310
|
0.00006
|
NM_002103.5(GYS1):c.1063-5C>T
|
rs776549260
|
0.00006
|
NM_002103.5(GYS1):c.1309-4G>A
|
rs112034326
|
0.00006
|
NM_002103.5(GYS1):c.1332C>T (p.Cys444=)
|
rs377125421
|
0.00006
|
NM_002103.5(GYS1):c.1740G>A (p.Arg580=)
|
rs773784707
|
0.00006
|
NM_002103.5(GYS1):c.177C>T (p.Gly59=)
|
rs779646777
|
0.00006
|
NM_002103.5(GYS1):c.1995C>T (p.Asn665=)
|
rs201072036
|
0.00006
|
NM_002103.5(GYS1):c.684C>T (p.Asn228=)
|
rs202167827
|
0.00006
|
NM_002103.5(GYS1):c.824-14dup
|
rs769641500
|
0.00006
|
NM_002637.4(PHKA1):c.3034-15C>T
|
rs1191413387
|
0.00006
|
NM_003384.3(VRK1):c.1005T>C (p.Asp335=)
|
rs948151259
|
0.00006
|
NM_003384.3(VRK1):c.286+20T>C
|
rs756827476
|
0.00006
|
NM_003384.3(VRK1):c.576+8T>C
|
rs368495945
|
0.00006
|
NM_004130.4(GYG1):c.129C>T (p.Val43=)
|
rs771303442
|
0.00006
|
NM_004130.4(GYG1):c.143+11C>T
|
rs367745695
|
0.00006
|
NM_004130.4(GYG1):c.942G>A (p.Pro314=)
|
rs141745973
|
0.00006
|
NM_005566.4(LDHA):c.406G>A (p.Val136Ile)
|
rs184074326
|
0.00006
|
NM_005609.4(PYGM):c.1239+12G>A
|
rs760471706
|
0.00006
|
NM_005609.4(PYGM):c.1239+18G>C
|
rs533410561
|
0.00006
|
NM_005609.4(PYGM):c.1371G>A (p.Ala457=)
|
rs766082496
|
0.00006
|
NM_005609.4(PYGM):c.1455C>T (p.Asn485=)
|
rs149123972
|
0.00006
|
NM_005609.4(PYGM):c.2199C>T (p.Tyr733=)
|
rs140102591
|
0.00006
|
NM_005609.4(PYGM):c.390G>A (p.Ala130=)
|
rs771873586
|
0.00006
|
NM_005908.4(MANBA):c.12C>T (p.His4=)
|
rs757557908
|
0.00006
|
NM_005908.4(MANBA):c.2014+15G>A
|
rs778364481
|
0.00006
|
NM_005908.4(MANBA):c.2379G>A (p.Pro793=)
|
rs372595764
|
0.00006
|
NM_005908.4(MANBA):c.807A>G (p.Gln269=)
|
rs151274894
|
0.00006
|
NM_006859.4(LIAS):c.999A>G (p.Lys333=)
|
rs372877643
|
0.00006
|
NM_012434.5(SLC17A5):c.843G>A (p.Pro281=)
|
rs567868125
|
0.00006
|
NM_016203.4(PRKAG2):c.1051+20T>C
|
rs748641955
|
0.00006
|
NM_016203.4(PRKAG2):c.130G>A (p.Ala44Thr)
|
rs144857453
|
0.00006
|
NM_016203.4(PRKAG2):c.206C>T (p.Pro69Leu)
|
rs182750960
|
0.00006
|
NM_016203.4(PRKAG2):c.514C>G (p.Gln172Glu)
|
rs730880972
|
0.00006
|
NM_016203.4(PRKAG2):c.864+20A>G
|
rs370643442
|
0.00006
|
NM_016219.5(MAN1B1):c.1236A>G (p.Thr412=)
|
rs754708614
|
0.00006
|
NM_016219.5(MAN1B1):c.1299G>C (p.Gly433=)
|
rs201942029
|
0.00006
|
NM_016219.5(MAN1B1):c.1445+10G>A
|
rs200441545
|
0.00006
|
NM_016219.5(MAN1B1):c.1765-9C>T
|
rs977693376
|
0.00006
|
NM_021957.4(GYS2):c.1645+7G>T
|
rs199505368
|
0.00006
|
NM_021957.4(GYS2):c.1880C>T (p.Ser627Leu)
|
rs182582633
|
0.00006
|
NM_031229.4(RBCK1):c.1164G>A (p.Glu388=)
|
rs750877383
|
0.00006
|
NM_031229.4(RBCK1):c.1293G>A (p.Thr431=)
|
rs766366513
|
0.00006
|
NM_033159.4(HYAL1):c.906G>A (p.Glu302=)
|
rs372594999
|
0.00006
|
NM_152419.3(HGSNAT):c.1542+18C>T
|
rs1013624277
|
0.00006
|
NM_152419.3(HGSNAT):c.633+20G>C
|
rs144188129
|
0.00006
|
NM_152419.3(HGSNAT):c.666C>T (p.Leu222=)
|
rs754275273
|
0.00006
|
NM_000027.4(AGA):c.282-6T>C
|
rs749661341
|
0.00005
|
NM_000027.4(AGA):c.623-6T>C
|
rs753309242
|
0.00005
|
NM_000027.4(AGA):c.75C>T (p.Ser25=)
|
rs146683705
|
0.00005
|
NM_000046.5(ARSB):c.1336+7del
|
rs748129076
|
0.00005
|
NM_000046.5(ARSB):c.54G>A (p.Leu18=)
|
rs142781021
|
0.00005
|
NM_000046.5(ARSB):c.658A>G (p.Ile220Val)
|
rs202130413
|
0.00005
|
NM_000108.5(DLD):c.807G>T (p.Gly269=)
|
rs912822748
|
0.00005
|
NM_000147.5(FUCA1):c.936G>A (p.Leu312=)
|
rs140932886
|
0.00005
|
NM_000151.4(G6PC1):c.786C>T (p.Leu262=)
|
rs138509513
|
0.00005
|
NM_000151.4(G6PC1):c.969C>T (p.Tyr323=)
|
rs780226142
|
0.00005
|
NM_000152.5(GAA):c.1075+20C>T
|
rs370379513
|
0.00005
|
NM_000152.5(GAA):c.1075+9T>C
|
rs751918816
|
0.00005
|
NM_000152.5(GAA):c.1425G>A (p.Pro475=)
|
rs753140491
|
0.00005
|
NM_000152.5(GAA):c.1437+19G>A
|
rs746904197
|
0.00005
|
NM_000152.5(GAA):c.1488G>A (p.Leu496=)
|
rs750777002
|
0.00005
|
NM_000152.5(GAA):c.1932C>T (p.Ala644=)
|
rs746194098
|
0.00005
|
NM_000152.5(GAA):c.2418G>A (p.Thr806=)
|
rs371528938
|
0.00005
|
NM_000152.5(GAA):c.2481+15C>T
|
rs771155956
|
0.00005
|
NM_000152.5(GAA):c.249C>T (p.Asp83=)
|
rs377351519
|
0.00005
|
NM_000152.5(GAA):c.408C>T (p.Tyr136=)
|
rs774018778
|
0.00005
|
NM_000152.5(GAA):c.510C>T (p.Asp170=)
|
rs564758226
|
0.00005
|
NM_000152.5(GAA):c.546+17C>T
|
rs529918753
|
0.00005
|
NM_000152.5(GAA):c.693-13C>G
|
rs760379754
|
0.00005
|
NM_000152.5(GAA):c.858+18G>A
|
rs747775111
|
0.00005
|
NM_000154.2(GALK1):c.1152C>T (p.Ala384=)
|
rs373041566
|
0.00005
|
NM_000154.2(GALK1):c.300G>A (p.Glu100=)
|
rs776426036
|
0.00005
|
NM_000154.2(GALK1):c.935G>A (p.Arg312His)
|
rs181526665
|
0.00005
|
NM_000155.4(GALT):c.253-19A>G
|
rs764103663
|
0.00005
|
NM_000158.4(GBE1):c.108G>A (p.Pro36=)
|
rs775188750
|
0.00005
|
NM_000158.4(GBE1):c.1392C>T (p.Leu464=)
|
rs563241317
|
0.00005
|
NM_000158.4(GBE1):c.1414A>G (p.Lys472Glu)
|
rs749416254
|
0.00005
|
NM_000181.4(GUSB):c.105G>C (p.Ser35=)
|
rs758743865
|
0.00005
|
NM_000181.4(GUSB):c.1137C>T (p.Asn379=)
|
rs371271170
|
0.00005
|
NM_000181.4(GUSB):c.211-8C>G
|
rs2293340
|
0.00005
|
NM_000199.5(SGSH):c.1359C>T (p.Thr453=)
|
rs751980056
|
0.00005
|
NM_000202.8(IDS):c.103+6G>A
|
rs781956472
|
0.00005
|
NM_000202.8(IDS):c.1248G>A (p.Leu416=)
|
rs1306764023
|
0.00005
|
NM_000202.8(IDS):c.717G>A (p.Gln239=)
|
rs782087755
|
0.00005
|
NM_000203.5(IDUA):c.1599G>A (p.Pro533=)
|
rs773947412
|
0.00005
|
NM_000203.5(IDUA):c.1728-9C>T
|
rs374775605
|
0.00005
|
NM_000203.5(IDUA):c.411G>A (p.Ser137=)
|
rs142816379
|
0.00005
|
NM_000203.5(IDUA):c.589+8_590-51dup
|
rs1560546691
|
0.00005
|
NM_000203.5(IDUA):c.903C>T (p.Asp301=)
|
rs759390416
|
0.00005
|
NM_000263.4(NAGLU):c.1209C>A (p.Ile403=)
|
rs758270880
|
0.00005
|
NM_000263.4(NAGLU):c.1839C>T (p.Asp613=)
|
rs143580194
|
0.00005
|
NM_000263.4(NAGLU):c.750C>T (p.Pro250=)
|
rs539019626
|
0.00005
|
NM_000284.4(PDHA1):c.660C>T (p.Phe220=)
|
rs745607005
|
0.00005
|
NM_000289.6(PFKM):c.1127+13C>T
|
rs376042142
|
0.00005
|
NM_000289.6(PFKM):c.1212T>C (p.Ala404=)
|
rs1203272613
|
0.00005
|
NM_000289.6(PFKM):c.1476C>T (p.Gly492=)
|
rs200847712
|
0.00005
|
NM_000289.6(PFKM):c.2085C>T (p.Tyr695=)
|
rs745739278
|
0.00005
|
NM_000289.6(PFKM):c.2253C>A (p.Ile751=)
|
rs370779782
|
0.00005
|
NM_000289.6(PFKM):c.327G>A (p.Gly109=)
|
rs751902983
|
0.00005
|
NM_000292.3(PHKA2):c.1989T>C (p.Tyr663=)
|
rs770108234
|
0.00005
|
NM_000293.3(PHKB):c.1972-7G>A
|
rs765332910
|
0.00005
|
NM_000293.3(PHKB):c.2673C>T (p.Gly891=)
|
rs201038140
|
0.00005
|
NM_000293.3(PHKB):c.306-15A>G
|
rs372436374
|
0.00005
|
NM_000294.3(PHKG2):c.516C>T (p.Phe172=)
|
rs758301470
|
0.00005
|
NM_000294.3(PHKG2):c.801+18G>A
|
rs754293230
|
0.00005
|
NM_000343.4(SLC5A1):c.1130-7C>A
|
rs779556793
|
0.00005
|
NM_000343.4(SLC5A1):c.549C>T (p.Leu183=)
|
rs376255565
|
0.00005
|
NM_000343.4(SLC5A1):c.624G>A (p.Thr208=)
|
rs144581584
|
0.00005
|
NM_000404.4(GLB1):c.1069-4A>G
|
rs781267265
|
0.00005
|
NM_000404.4(GLB1):c.1815G>A (p.Gln605=)
|
rs776773620
|
0.00005
|
NM_000404.4(GLB1):c.1830C>G (p.Thr610=)
|
rs189054965
|
0.00005
|
NM_000404.4(GLB1):c.61A>G (p.Thr21Ala)
|
rs201903758
|
0.00005
|
NM_000512.5(GALNS):c.833C>T (p.Ala278Val)
|
rs141544939
|
0.00005
|
NM_000528.4(MAN2B1):c.160-12G>A
|
rs775808824
|
0.00005
|
NM_000528.4(MAN2B1):c.1796G>T (p.Arg599Ile)
|
rs181476648
|
0.00005
|
NM_000528.4(MAN2B1):c.1838G>A (p.Arg613Gln)
|
rs543222535
|
0.00005
|
NM_000642.3(AGL):c.1065G>A (p.Thr355=)
|
rs764914308
|
0.00005
|
NM_000642.3(AGL):c.1971A>G (p.Thr657=)
|
rs767863471
|
0.00005
|
NM_000642.3(AGL):c.261A>G (p.Gln87=)
|
rs370304606
|
0.00005
|
NM_000642.3(AGL):c.2949+15A>G
|
rs756269310
|
0.00005
|
NM_001008216.2(GALE):c.352-15T>C
|
rs913690101
|
0.00005
|
NM_001008216.2(GALE):c.372G>A (p.Val124=)
|
rs550325454
|
0.00005
|
NM_001008216.2(GALE):c.988+18C>T
|
rs374716589
|
0.00005
|
NM_001040716.2(PC):c.1023-4A>G
|
rs1294415190
|
0.00005
|
NM_001040716.2(PC):c.1149C>T (p.Pro383=)
|
rs942544161
|
0.00005
|
NM_001040716.2(PC):c.1233C>T (p.Ser411=)
|
rs747247743
|
0.00005
|
NM_001040716.2(PC):c.1317C>T (p.Ala439=)
|
rs772463388
|
0.00005
|
NM_001040716.2(PC):c.1368+11G>A
|
rs371731636
|
0.00005
|
NM_001040716.2(PC):c.1514-6C>T
|
rs745563711
|
0.00005
|
NM_001040716.2(PC):c.1701C>T (p.Asp567=)
|
rs376240725
|
0.00005
|
NM_001040716.2(PC):c.2469C>T (p.Asp823=)
|
rs145654496
|
0.00005
|
NM_001040716.2(PC):c.2886C>T (p.Pro962=)
|
rs780732004
|
0.00005
|
NM_001040716.2(PC):c.3072T>C (p.Thr1024=)
|
rs147432626
|
0.00005
|
NM_001040716.2(PC):c.3171G>A (p.Thr1057=)
|
rs147550265
|
0.00005
|
NM_001040716.2(PC):c.3192C>T (p.Ala1064=)
|
rs751541124
|
0.00005
|
NM_001040716.2(PC):c.751+13G>A
|
rs374607634
|
0.00005
|
NM_001164277.2(SLC37A4):c.1026G>A (p.Ser342=)
|
rs782777751
|
0.00005
|
NM_001164277.2(SLC37A4):c.594C>T (p.Asn198=)
|
rs758536145
|
0.00005
|
NM_001164277.2(SLC37A4):c.675C>T (p.Tyr225=)
|
rs996440530
|
0.00005
|
NM_001243177.4(ALDOA):c.1002G>A (p.Ala334=)
|
rs532473202
|
0.00005
|
NM_001243177.4(ALDOA):c.585C>T (p.Asp195=)
|
rs150741747
|
0.00005
|
NM_001352514.2(HLCS):c.1857C>A (p.Ala619=)
|
rs759178651
|
0.00005
|
NM_001352514.2(HLCS):c.2622A>G (p.Ter874=)
|
rs375809125
|
0.00005
|
NM_001360016.2(G6PD):c.1065C>T (p.Ile355=)
|
rs1557229753
|
0.00005
|
NM_001360016.2(G6PD):c.1191C>T (p.Asn397=)
|
rs781798712
|
0.00005
|
NM_001360016.2(G6PD):c.207C>T (p.Gly69=)
|
rs782770344
|
0.00005
|
NM_001360016.2(G6PD):c.696C>T (p.Cys232=)
|
rs782061495
|
0.00005
|
NM_001360016.2(G6PD):c.865-16C>T
|
rs199970830
|
0.00005
|
NM_001360016.2(G6PD):c.972C>T (p.Asp324=)
|
rs782534709
|
0.00005
|
NM_001370658.1(BTD):c.1188C>T (p.His396=)
|
rs372039874
|
0.00005
|
NM_001370658.1(BTD):c.39C>T (p.Cys13=)
|
rs201564216
|
0.00005
|
NM_001370658.1(BTD):c.48C>T (p.Tyr16=)
|
rs201823743
|
0.00005
|
NM_001739.2(CA5A):c.438C>T (p.Asp146=)
|
rs143279008
|
0.00005
|
NM_001931.5(DLAT):c.165C>G (p.Val55=)
|
rs199520186
|
0.00005
|
NM_002076.4(GNS):c.525+14G>A
|
rs774916170
|
0.00005
|
NM_002103.5(GYS1):c.1335C>T (p.Thr445=)
|
rs753790981
|
0.00005
|
NM_002103.5(GYS1):c.1401T>C (p.Asn467=)
|
rs574896397
|
0.00005
|
NM_002103.5(GYS1):c.759C>T (p.His253=)
|
rs149182914
|
0.00005
|
NM_002103.5(GYS1):c.813G>A (p.Lys271=)
|
rs942457914
|
0.00005
|
NM_002294.3(LAMP2):c.264A>T (p.Ile88=)
|
rs779524035
|
0.00005
|
NM_002294.3(LAMP2):c.32G>T (p.Gly11Val)
|
rs3180515
|
0.00005
|
NM_002294.3(LAMP2):c.771T>C (p.Asn257=)
|
rs138435481
|
0.00005
|
NM_002637.4(PHKA1):c.3570C>T (p.Asp1190=)
|
rs1033726905
|
0.00005
|
NM_002863.5(PYGL):c.1884A>G (p.Ala628=)
|
rs374560108
|
0.00005
|
NM_005271.5(GLUD1):c.585T>C (p.Asp195=)
|
rs756647962
|
0.00005
|
NM_005327.7(HADH):c.132+7G>T
|
rs534966818
|
0.00005
|
NM_005327.7(HADH):c.709+18G>A
|
rs369931989
|
0.00005
|
NM_005609.4(PYGM):c.1239+9G>A
|
rs374937711
|
0.00005
|
NM_005609.4(PYGM):c.1546C>T (p.Leu516=)
|
rs767703629
|
0.00005
|
NM_006859.4(LIAS):c.393+7C>T
|
rs372423537
|
0.00005
|
NM_006859.4(LIAS):c.609-19T>C
|
rs1169661442
|
0.00005
|
NM_012434.5(SLC17A5):c.789G>A (p.Lys263=)
|
rs41265523
|
0.00005
|
NM_012434.5(SLC17A5):c.819+19T>C
|
rs201859687
|
0.00005
|
NM_016203.4(PRKAG2):c.147C>T (p.Asp49=)
|
rs761196275
|
0.00005
|
NM_016203.4(PRKAG2):c.1659C>T (p.Ala553=)
|
rs374476363
|
0.00005
|
NM_016203.4(PRKAG2):c.696G>A (p.Ala232=)
|
rs781038088
|
0.00005
|
NM_021957.4(GYS2):c.750T>C (p.His250=)
|
rs200713752
|
0.00005
|
NM_024989.4(PGAP1):c.148-8A>T
|
rs765710378
|
0.00005
|
NM_031229.4(RBCK1):c.1308+19C>T
|
rs554956050
|
0.00005
|
NM_033159.4(HYAL1):c.150C>T (p.Asp50=)
|
rs377272298
|
0.00005
|
NM_033159.4(HYAL1):c.846G>A (p.Pro282=)
|
rs782094366
|
0.00005
|
NM_152419.3(HGSNAT):c.1495C>T (p.Arg499Trp)
|
rs200238482
|
0.00005
|
NM_198586.3(NHLRC1):c.1092G>A (p.Ser364=)
|
rs760322295
|
0.00005
|
NM_198586.3(NHLRC1):c.642A>G (p.Gln214=)
|
rs754756237
|
0.00005
|
NM_198586.3(NHLRC1):c.723C>A (p.Leu241=)
|
rs748203595
|
0.00005
|
NM_000027.4(AGA):c.127+16C>T
|
rs745840548
|
0.00004
|
NM_000027.4(AGA):c.128-18T>C
|
rs367922948
|
0.00004
|
NM_000027.4(AGA):c.24T>C (p.Pro8=)
|
rs34413111
|
0.00004
|
NM_000027.4(AGA):c.281+12G>A
|
rs754261269
|
0.00004
|
NM_000027.4(AGA):c.645A>G (p.Thr215=)
|
rs201441868
|
0.00004
|
NM_000035.4(ALDOB):c.207C>T (p.Ser69=)
|
rs779129856
|
0.00004
|
NM_000035.4(ALDOB):c.468C>T (p.Asp156=)
|
rs778013891
|
0.00004
|
NM_000046.5(ARSB):c.105G>A (p.Pro35=)
|
rs1423589060
|
0.00004
|
NM_000046.5(ARSB):c.1086G>A (p.Arg362=)
|
rs144879531
|
0.00004
|
NM_000046.5(ARSB):c.1142+18T>G
|
rs758055045
|
0.00004
|
NM_000046.5(ARSB):c.1142+9A>C
|
rs756793742
|
0.00004
|
NM_000046.5(ARSB):c.1440C>T (p.Asp480=)
|
rs556943300
|
0.00004
|
NM_000046.5(ARSB):c.261G>A (p.Thr87=)
|
rs756411069
|
0.00004
|
NM_000046.5(ARSB):c.384C>G (p.Leu128=)
|
rs747605575
|
0.00004
|
NM_000046.5(ARSB):c.510G>C (p.Leu170=)
|
rs768312895
|
0.00004
|
NM_000046.5(ARSB):c.690+14C>T
|
rs757236770
|
0.00004
|
NM_000046.5(ARSB):c.879G>A (p.Thr293=)
|
rs755579897
|
0.00004
|
NM_000046.5(ARSB):c.975C>T (p.Gly325=)
|
rs75766476
|
0.00004
|
NM_000108.5(DLD):c.951C>G (p.Pro317=)
|
rs778207997
|
0.00004
|
NM_000147.5(FUCA1):c.1160+9T>C
|
rs778966131
|
0.00004
|
NM_000147.5(FUCA1):c.1335C>G (p.Pro445=)
|
rs372223382
|
0.00004
|
NM_000147.5(FUCA1):c.39C>T (p.Pro13=)
|
rs1429674319
|
0.00004
|
NM_000151.4(G6PC1):c.354C>G (p.Gly118=)
|
rs766771010
|
0.00004
|
NM_000151.4(G6PC1):c.800C>T (p.Thr267Met)
|
rs145296477
|
0.00004
|
NM_000151.4(G6PC1):c.804C>T (p.Leu268=)
|
rs377077333
|
0.00004
|
NM_000152.5(GAA):c.1245G>A (p.Thr415=)
|
rs760920034
|
0.00004
|
NM_000152.5(GAA):c.138C>T (p.Ser46=)
|
rs753375900
|
0.00004
|
NM_000152.5(GAA):c.1416C>T (p.Thr472=)
|
rs368492669
|
0.00004
|
NM_000152.5(GAA):c.1491C>T (p.Ala497=)
|
rs373993015
|
0.00004
|
NM_000152.5(GAA):c.1629C>T (p.Tyr543=)
|
rs372193105
|
0.00004
|
NM_000152.5(GAA):c.1710C>T (p.Asn570=)
|
rs765362308
|
0.00004
|
NM_000152.5(GAA):c.1888+8C>T
|
rs772887194
|
0.00004
|
NM_000152.5(GAA):c.2151C>T (p.His717=)
|
rs758725073
|
0.00004
|
NM_000152.5(GAA):c.246C>T (p.Cys82=)
|
rs749584846
|
0.00004
|
NM_000152.5(GAA):c.2647-6G>T
|
rs201525743
|
0.00004
|
NM_000152.5(GAA):c.2671C>T (p.Arg891Cys)
|
rs377249041
|
0.00004
|
NM_000152.5(GAA):c.618C>T (p.Ser206=)
|
rs146292898
|
0.00004
|
NM_000152.5(GAA):c.762G>A (p.Ser254=)
|
rs533960093
|
0.00004
|
NM_000152.5(GAA):c.858+17C>T
|
rs371980868
|
0.00004
|
NM_000152.5(GAA):c.861C>T (p.Pro287=)
|
rs778580823
|
0.00004
|
NM_000152.5(GAA):c.912C>T (p.Gly304=)
|
rs368741815
|
0.00004
|
NM_000154.2(GALK1):c.1077C>T (p.Ser359=)
|
rs376050836
|
0.00004
|
NM_000154.2(GALK1):c.765C>T (p.Leu255=)
|
rs146095595
|
0.00004
|
NM_000155.4(GALT):c.1059+8C>T
|
rs373165440
|
0.00004
|
NM_000155.4(GALT):c.270T>C (p.Asp90=)
|
rs1300102277
|
0.00004
|
NM_000155.4(GALT):c.44C>T (p.Ser15Leu)
|
rs759270191
|
0.00004
|
NM_000155.4(GALT):c.459A>G (p.Ala153=)
|
rs141498518
|
0.00004
|
NM_000155.4(GALT):c.82+8C>T
|
rs368244179
|
0.00004
|
NM_000155.4(GALT):c.999G>C (p.Arg333=)
|
rs1054951172
|
0.00004
|
NM_000158.4(GBE1):c.1011C>T (p.Phe337=)
|
rs916259056
|
0.00004
|
NM_000158.4(GBE1):c.1168T>A (p.Leu390Met)
|
rs199821084
|
0.00004
|
NM_000158.4(GBE1):c.1209G>A (p.Leu403=)
|
rs763217252
|
0.00004
|
NM_000158.4(GBE1):c.1932G>A (p.Gly644=)
|
rs544906178
|
0.00004
|
NM_000158.4(GBE1):c.2088G>A (p.Gln696=)
|
rs577633008
|
0.00004
|
NM_000158.4(GBE1):c.231C>T (p.Gly77=)
|
rs375359843
|
0.00004
|
NM_000158.4(GBE1):c.669A>G (p.Val223=)
|
rs1014444694
|
0.00004
|
NM_000158.4(GBE1):c.993-20A>G
|
rs534036934
|
0.00004
|
NM_000181.4(GUSB):c.1485T>C (p.Tyr495=)
|
rs1333588701
|
0.00004
|
NM_000181.4(GUSB):c.1789+9C>T
|
rs545446158
|
0.00004
|
NM_000181.4(GUSB):c.324G>A (p.Pro108=)
|
rs546131174
|
0.00004
|
NM_000181.4(GUSB):c.510C>T (p.Ile170=)
|
rs752674900
|
0.00004
|
NM_000199.5(SGSH):c.1134C>T (p.Ser378=)
|
rs771257931
|
0.00004
|
NM_000199.5(SGSH):c.1253G>A (p.Gly418Asp)
|
rs760618916
|
0.00004
|
NM_000199.5(SGSH):c.1263G>A (p.Thr421=)
|
rs140931352
|
0.00004
|
NM_000199.5(SGSH):c.356-7C>T
|
rs372328165
|
0.00004
|
NM_000199.5(SGSH):c.375C>T (p.His125=)
|
rs774482734
|
0.00004
|
NM_000199.5(SGSH):c.663+7C>T
|
rs372662337
|
0.00004
|
NM_000199.5(SGSH):c.792C>T (p.Asn264=)
|
rs147962306
|
0.00004
|
NM_000199.5(SGSH):c.89-10C>T
|
rs766929408
|
0.00004
|
NM_000199.5(SGSH):c.909A>G (p.Lys303=)
|
rs746617014
|
0.00004
|
NM_000199.5(SGSH):c.950-13G>A
|
rs568262258
|
0.00004
|
NM_000199.5(SGSH):c.950-16G>T
|
rs182544870
|
0.00004
|
NM_000202.8(IDS):c.104-9C>G
|
rs371864469
|
0.00004
|
NM_000202.8(IDS):c.246A>G (p.Ala82=)
|
rs1447255384
|
0.00004
|
NM_000202.8(IDS):c.501C>T (p.Asn167=)
|
rs375547801
|
0.00004
|
NM_000202.8(IDS):c.576C>T (p.Pro192=)
|
rs1286461259
|
0.00004
|
NM_000202.8(IDS):c.760G>A (p.Glu254Lys)
|
rs374066256
|
0.00004
|
NM_000203.5(IDUA):c.1031C>G (p.Ala344Gly)
|
rs202191662
|
0.00004
|
NM_000203.5(IDUA):c.1053C>T (p.Ala351=)
|
rs762621113
|
0.00004
|
NM_000203.5(IDUA):c.1143G>A (p.Leu381=)
|
rs1214087298
|
0.00004
|
NM_000203.5(IDUA):c.1144T>C (p.Leu382=)
|
rs571482042
|
0.00004
|
NM_000203.5(IDUA):c.1190-10C>T
|
rs1443642527
|
0.00004
|
NM_000203.5(IDUA):c.1278C>T (p.Arg426=)
|
rs890691785
|
0.00004
|
NM_000203.5(IDUA):c.1482C>G (p.Val494=)
|
rs999890083
|
0.00004
|
NM_000203.5(IDUA):c.1632C>G (p.Pro544=)
|
rs760288223
|
0.00004
|
NM_000203.5(IDUA):c.1911G>A (p.Pro637=)
|
rs780005721
|
0.00004
|
NM_000203.5(IDUA):c.30G>A (p.Leu10=)
|
rs549738466
|
0.00004
|
NM_000203.5(IDUA):c.385+19C>T
|
rs746426487
|
0.00004
|
NM_000203.5(IDUA):c.589+8C>T
|
rs371219112
|
0.00004
|
NM_000203.5(IDUA):c.711C>T (p.Leu237=)
|
rs528650871
|
0.00004
|
NM_000203.5(IDUA):c.957G>C (p.Ala319=)
|
rs748350723
|
0.00004
|
NM_000262.3(NAGA):c.483C>A (p.Thr161=)
|
rs753065255
|
0.00004
|
NM_000262.3(NAGA):c.582C>T (p.Gly194=)
|
rs553977653
|
0.00004
|
NM_000262.3(NAGA):c.598-9G>A
|
rs772435890
|
0.00004
|
NM_000263.4(NAGLU):c.1005T>C (p.Tyr335=)
|
rs756871462
|
0.00004
|
NM_000263.4(NAGLU):c.1068C>T (p.His356=)
|
rs753745933
|
0.00004
|
NM_000263.4(NAGLU):c.1884G>A (p.Ala628=)
|
rs763394060
|
0.00004
|
NM_000263.4(NAGLU):c.1899C>T (p.Ala633=)
|
rs767268083
|
0.00004
|
NM_000263.4(NAGLU):c.199C>T (p.Leu67=)
|
rs920631661
|
0.00004
|
NM_000263.4(NAGLU):c.2220C>T (p.Ala740=)
|
rs756351696
|
0.00004
|
NM_000263.4(NAGLU):c.383+7C>T
|
rs768602711
|
0.00004
|
NM_000263.4(NAGLU):c.542C>A (p.Ala181Asp)
|
rs149859697
|
0.00004
|
NM_000263.4(NAGLU):c.648C>G (p.Pro216=)
|
rs755855749
|
0.00004
|
NM_000284.4(PDHA1):c.126C>G (p.Asp42Glu)
|
rs759331650
|
0.00004
|
NM_000284.4(PDHA1):c.657T>C (p.Ile219=)
|
rs778744930
|
0.00004
|
NM_000289.6(PFKM):c.1044C>G (p.Leu348=)
|
rs749882480
|
0.00004
|
NM_000289.6(PFKM):c.1063-18G>A
|
rs531023136
|
0.00004
|
NM_000289.6(PFKM):c.1063-19C>T
|
rs772630501
|
0.00004
|
NM_000289.6(PFKM):c.1320C>T (p.Phe440=)
|
rs540444775
|
0.00004
|
NM_000289.6(PFKM):c.1770C>T (p.Ala590=)
|
rs751097669
|
0.00004
|
NM_000289.6(PFKM):c.1956C>T (p.Phe652=)
|
rs771733776
|
0.00004
|
NM_000289.6(PFKM):c.468G>C (p.Leu156=)
|
rs772301967
|
0.00004
|
NM_000289.6(PFKM):c.978G>A (p.Glu326=)
|
rs550083752
|
0.00004
|
NM_000292.3(PHKA2):c.2677-17G>A
|
rs755254108
|
0.00004
|
NM_000293.3(PHKB):c.258C>T (p.Asp86=)
|
rs147357783
|
0.00004
|
NM_000293.3(PHKB):c.2689T>C (p.Leu897=)
|
rs369059693
|
0.00004
|
NM_000293.3(PHKB):c.2958G>A (p.Thr986=)
|
rs748651257
|
0.00004
|
NM_000293.3(PHKB):c.30A>C (p.Glu10Asp)
|
rs760502380
|
0.00004
|
NM_000293.3(PHKB):c.775-10C>G
|
rs753672973
|
0.00004
|
NM_000293.3(PHKB):c.775-8C>G
|
rs780221944
|
0.00004
|
NM_000294.3(PHKG2):c.1071C>G (p.Leu357=)
|
rs200630126
|
0.00004
|
NM_000308.4(CTSA):c.1164+7G>A
|
rs775198775
|
0.00004
|
NM_000308.4(CTSA):c.1290C>T (p.Tyr430=)
|
rs757162844
|
0.00004
|
NM_000340.2(SLC2A2):c.612+10C>A
|
rs762632420
|
0.00004
|
NM_000340.2(SLC2A2):c.852G>A (p.Ser284=)
|
rs371899639
|
0.00004
|
NM_000343.4(SLC5A1):c.1918T>C (p.Leu640=)
|
rs201676029
|
0.00004
|
NM_000343.4(SLC5A1):c.813G>A (p.Thr271=)
|
rs200849778
|
0.00004
|
NM_000343.4(SLC5A1):c.885+15T>C
|
rs557130106
|
0.00004
|
NM_000404.4(GLB1):c.1234-8C>G
|
rs376560587
|
0.00004
|
NM_000404.4(GLB1):c.1348-7C>T
|
rs774732235
|
0.00004
|
NM_000404.4(GLB1):c.1998G>A (p.Pro666=)
|
rs746939617
|
0.00004
|
NM_000404.4(GLB1):c.327G>A (p.Arg109=)
|
rs751602590
|
0.00004
|
NM_000404.4(GLB1):c.876C>G (p.Ser292=)
|
rs1699010204
|
0.00004
|
NM_000507.4(FBP1):c.606G>A (p.Lys202=)
|
rs111596938
|
0.00004
|
NM_000512.5(GALNS):c.1002+10C>T
|
rs746669295
|
0.00004
|
NM_000512.5(GALNS):c.1139+20C>T
|
rs762116692
|
0.00004
|
NM_000512.5(GALNS):c.121-18C>T
|
rs200396173
|
0.00004
|
NM_000512.5(GALNS):c.1409C>T (p.Ser470Leu)
|
rs760260706
|
0.00004
|
NM_000512.5(GALNS):c.168C>G (p.Thr56=)
|
rs368128023
|
0.00004
|
NM_000512.5(GALNS):c.24G>A (p.Thr8=)
|
rs904615956
|
0.00004
|
NM_000512.5(GALNS):c.828C>T (p.His276=)
|
rs759216815
|
0.00004
|
NM_000512.5(GALNS):c.899-19A>G
|
rs759805854
|
0.00004
|
NM_000528.4(MAN2B1):c.1026+9G>A
|
rs762829719
|
0.00004
|
NM_000528.4(MAN2B1):c.1110-7G>A
|
rs578109865
|
0.00004
|
NM_000528.4(MAN2B1):c.1231-16A>G
|
rs757582067
|
0.00004
|
NM_000528.4(MAN2B1):c.1435G>T (p.Ala479Ser)
|
rs767199154
|
0.00004
|
NM_000528.4(MAN2B1):c.1506G>A (p.Pro502=)
|
rs1167317443
|
0.00004
|
NM_000528.4(MAN2B1):c.1755C>G (p.Arg585=)
|
rs759033353
|
0.00004
|
NM_000528.4(MAN2B1):c.1845G>A (p.Thr615=)
|
rs369071579
|
0.00004
|
NM_000528.4(MAN2B1):c.2047-13C>T
|
rs760151408
|
0.00004
|
NM_000528.4(MAN2B1):c.2047-4G>A
|
rs768347546
|
0.00004
|
NM_000528.4(MAN2B1):c.2047-5C>T
|
rs200424566
|
0.00004
|
NM_000528.4(MAN2B1):c.263-12T>C
|
rs1444171046
|
0.00004
|
NM_000528.4(MAN2B1):c.263-7T>C
|
rs756239857
|
0.00004
|
NM_000528.4(MAN2B1):c.263-8A>G
|
rs1463660136
|
0.00004
|
NM_000528.4(MAN2B1):c.282C>T (p.His94=)
|
rs766810849
|
0.00004
|
NM_000528.4(MAN2B1):c.3015A>G (p.Gln1005=)
|
rs570397849
|
0.00004
|
NM_000528.4(MAN2B1):c.552C>A (p.Gly184=)
|
rs993605117
|
0.00004
|
NM_000528.4(MAN2B1):c.864C>T (p.Asn288=)
|
rs146909343
|
0.00004
|
NM_000528.4(MAN2B1):c.909+9G>A
|
rs767907971
|
0.00004
|
NM_000528.4(MAN2B1):c.966T>C (p.Tyr322=)
|
rs762918325
|
0.00004
|
NM_000642.3(AGL):c.1186-9G>A
|
rs375485555
|
0.00004
|
NM_000642.3(AGL):c.174T>C (p.Asn58=)
|
rs779677453
|
0.00004
|
NM_000642.3(AGL):c.1899+9C>G
|
rs768285138
|
0.00004
|
NM_000642.3(AGL):c.241T>C (p.Cys81Arg)
|
rs201584227
|
0.00004
|
NM_000642.3(AGL):c.2434-11T>G
|
rs759744414
|
0.00004
|
NM_000642.3(AGL):c.293+9G>C
|
rs368840272
|
0.00004
|
NM_000642.3(AGL):c.3738A>T (p.Gly1246=)
|
rs780617757
|
0.00004
|
NM_000642.3(AGL):c.3837-15G>A
|
rs376026767
|
0.00004
|
NM_000642.3(AGL):c.4161+11C>T
|
rs886038361
|
0.00004
|
NM_000642.3(AGL):c.4293A>G (p.Ala1431=)
|
rs745826435
|
0.00004
|
NM_000642.3(AGL):c.487T>C (p.Leu163=)
|
rs749851190
|
0.00004
|
NM_000642.3(AGL):c.762T>C (p.Leu254=)
|
rs775268232
|
0.00004
|
NM_000642.3(AGL):c.78A>G (p.Glu26=)
|
rs143110759
|
0.00004
|
NM_000642.3(AGL):c.927G>A (p.Ala309=)
|
rs181804327
|
0.00004
|
NM_000891.3(KCNJ2):c.1164C>T (p.Asp388=)
|
rs150855087
|
0.00004
|
NM_000891.3(KCNJ2):c.570C>T (p.Asn190=)
|
rs183993685
|
0.00004
|
NM_000891.3(KCNJ2):c.597C>T (p.Ala199=)
|
rs771056622
|
0.00004
|
NM_000925.4(PDHB):c.96+10G>A
|
rs755528489
|
0.00004
|
NM_001008216.2(GALE):c.874-9G>A
|
rs764448821
|
0.00004
|
NM_001040716.2(PC):c.1074C>T (p.Pro358=)
|
rs749417596
|
0.00004
|
NM_001040716.2(PC):c.1140C>T (p.Thr380=)
|
rs369657359
|
0.00004
|
NM_001040716.2(PC):c.1185+13C>T
|
rs369097493
|
0.00004
|
NM_001040716.2(PC):c.1296C>T (p.His432=)
|
rs751412938
|
0.00004
|
NM_001040716.2(PC):c.1607C>T (p.Pro536Leu)
|
rs751657066
|
0.00004
|
NM_001040716.2(PC):c.1614G>A (p.Pro538=)
|
rs35235415
|
0.00004
|
NM_001040716.2(PC):c.1704G>A (p.Thr568=)
|
rs549934922
|
0.00004
|
NM_001040716.2(PC):c.1767G>T (p.Lys589Asn)
|
rs143725101
|
0.00004
|
NM_001040716.2(PC):c.1842C>T (p.Val614=)
|
rs142817472
|
0.00004
|
NM_001040716.2(PC):c.2489G>A (p.Arg830His)
|
rs773519800
|
0.00004
|
NM_001040716.2(PC):c.258C>T (p.Ile86=)
|
rs982214658
|
0.00004
|
NM_001040716.2(PC):c.2899-9G>A
|
rs372755874
|
0.00004
|
NM_001040716.2(PC):c.3009G>A (p.Thr1003=)
|
rs377272205
|
0.00004
|
NM_001040716.2(PC):c.3147+11C>G
|
rs376612922
|
0.00004
|
NM_001040716.2(PC):c.495C>T (p.Pro165=)
|
rs372522645
|
0.00004
|
NM_001040716.2(PC):c.561C>T (p.Tyr187=)
|
rs145333590
|
0.00004
|
NM_001040716.2(PC):c.904-16G>A
|
rs189690730
|
0.00004
|
NM_001164277.2(SLC37A4):c.112T>C (p.Leu38=)
|
rs376965474
|
0.00004
|
NM_001164277.2(SLC37A4):c.382-17C>T
|
rs1369693461
|
0.00004
|
NM_001164277.2(SLC37A4):c.626+13C>T
|
rs746096087
|
0.00004
|
NM_001164277.2(SLC37A4):c.871+17G>T
|
rs199848791
|
0.00004
|
NM_001243177.4(ALDOA):c.312G>A (p.Glu104=)
|
rs779556052
|
0.00004
|
NM_001243177.4(ALDOA):c.591T>C (p.Ala197=)
|
rs751360534
|
0.00004
|
NM_001243177.4(ALDOA):c.609T>C (p.Arg203=)
|
rs765883841
|
0.00004
|
NM_001243177.4(ALDOA):c.921C>T (p.Thr307=)
|
rs148503847
|
0.00004
|
NM_001352514.2(HLCS):c.1621-9A>G
|
rs374646852
|
0.00004
|
NM_001352514.2(HLCS):c.1961-7G>C
|
rs145472697
|
0.00004
|
NM_001352514.2(HLCS):c.494-9A>G
|
rs376397597
|
0.00004
|
NM_001352514.2(HLCS):c.574C>G (p.Pro192Ala)
|
rs200950813
|
0.00004
|
NM_001352514.2(HLCS):c.709G>A (p.Asp237Asn)
|
rs780948465
|
0.00004
|
NM_001352514.2(HLCS):c.918A>G (p.Gly306=)
|
rs767988985
|
0.00004
|
NM_001360016.2(G6PD):c.121-13C>T
|
rs782558415
|
0.00004
|
NM_001360016.2(G6PD):c.1287+18A>G
|
rs782133149
|
0.00004
|
NM_001360016.2(G6PD):c.1329C>T (p.Asp443=)
|
rs138919671
|
0.00004
|
NM_001360016.2(G6PD):c.268-11G>A
|
rs781983059
|
0.00004
|
NM_001360016.2(G6PD):c.435C>T (p.Thr145=)
|
rs1451145498
|
0.00004
|
NM_001360016.2(G6PD):c.771-8G>A
|
rs368790003
|
0.00004
|
NM_001360016.2(G6PD):c.813G>A (p.Val271=)
|
rs782732134
|
0.00004
|
NM_001365304.2(LOC112694756):c.*1508+8T>C
|
rs751467136
|
0.00004
|
NM_001370658.1(BTD):c.-46T>C
|
rs374044613
|
0.00004
|
NM_001370658.1(BTD):c.1014T>C (p.His338=)
|
rs371365798
|
0.00004
|
NM_001370658.1(BTD):c.123C>T (p.Ala41=)
|
rs747945967
|
0.00004
|
NM_001370658.1(BTD):c.1536G>A (p.Thr512=)
|
rs774052068
|
0.00004
|
NM_001739.2(CA5A):c.619-7C>T
|
rs558522180
|
0.00004
|
NM_001739.2(CA5A):c.753C>T (p.Pro251=)
|
rs748576210
|
0.00004
|
NM_001931.5(DLAT):c.1542G>A (p.Ala514=)
|
rs587652725
|
0.00004
|
NM_002076.4(GNS):c.1420-9G>A
|
rs980133508
|
0.00004
|
NM_002076.4(GNS):c.42C>T (p.Gly14=)
|
rs925458413
|
0.00004
|
NM_002076.4(GNS):c.793-9A>G
|
rs780164582
|
0.00004
|
NM_002076.4(GNS):c.875+16A>G
|
rs375692142
|
0.00004
|
NM_002103.5(GYS1):c.1169+18C>T
|
rs745793191
|
0.00004
|
NM_002103.5(GYS1):c.1416G>A (p.Arg472=)
|
rs138480890
|
0.00004
|
NM_002103.5(GYS1):c.147G>A (p.Thr49=)
|
rs748031807
|
0.00004
|
NM_002103.5(GYS1):c.1704C>T (p.Thr568=)
|
rs760568725
|
0.00004
|
NM_002103.5(GYS1):c.303G>A (p.Val101=)
|
rs1391443496
|
0.00004
|
NM_002103.5(GYS1):c.477C>G (p.Thr159=)
|
rs144548792
|
0.00004
|
NM_002103.5(GYS1):c.547T>C (p.Leu183=)
|
rs147264448
|
0.00004
|
NM_002294.3(LAMP2):c.1091C>T (p.Thr364Ile)
|
rs183781327
|
0.00004
|
NM_002294.3(LAMP2):c.1093+9C>T
|
rs371259269
|
0.00004
|
NM_002294.3(LAMP2):c.1137A>G (p.Ile379Met)
|
rs730880126
|
0.00004
|
NM_002294.3(LAMP2):c.517G>A (p.Val173Ile)
|
rs141574558
|
0.00004
|
NM_002294.3(LAMP2):c.65-13T>A
|
rs727503121
|
0.00004
|
NM_002637.4(PHKA1):c.1794-7T>A
|
rs376754554
|
0.00004
|
NM_002637.4(PHKA1):c.2230-20C>T
|
rs374639781
|
0.00004
|
NM_002863.5(PYGL):c.1519-15C>A
|
rs372886463
|
0.00004
|
NM_003384.3(VRK1):c.1170C>G (p.Thr390=)
|
rs776701715
|
0.00004
|
NM_003384.3(VRK1):c.663C>T (p.His221=)
|
rs376006178
|
0.00004
|
NM_004130.4(GYG1):c.8-15T>C
|
rs781644209
|
0.00004
|
NM_005271.5(GLUD1):c.48C>G (p.Pro16=)
|
rs1313982001
|
0.00004
|
NM_005327.7(HADH):c.324C>T (p.Ser108=)
|
rs373153417
|
0.00004
|
NM_005327.7(HADH):c.384C>T (p.Asn128=)
|
rs369550874
|
0.00004
|
NM_005327.7(HADH):c.710-14C>T
|
rs185267497
|
0.00004
|
NM_005327.7(HADH):c.795C>T (p.Val265=)
|
rs143416676
|
0.00004
|
NM_005609.4(PYGM):c.1185G>A (p.Thr395=)
|
rs1347426590
|
0.00004
|
NM_005609.4(PYGM):c.1266C>T (p.Asp422=)
|
rs769602726
|
0.00004
|
NM_005609.4(PYGM):c.1353C>T (p.His451=)
|
rs377599118
|
0.00004
|
NM_005609.4(PYGM):c.1518+14G>A
|
rs755630318
|
0.00004
|
NM_005609.4(PYGM):c.1539C>T (p.Ile513=)
|
rs750948324
|
0.00004
|
NM_005609.4(PYGM):c.1716C>T (p.His572=)
|
rs754944948
|
0.00004
|
NM_005609.4(PYGM):c.1905G>A (p.Pro635=)
|
rs759582306
|
0.00004
|
NM_005609.4(PYGM):c.1926T>C (p.Arg642=)
|
rs779048512
|
0.00004
|
NM_005609.4(PYGM):c.213G>A (p.Thr71=)
|
rs771239946
|
0.00004
|
NM_005609.4(PYGM):c.424+16C>T
|
rs201194596
|
0.00004
|
NM_005609.4(PYGM):c.528+9C>T
|
rs371349986
|
0.00004
|
NM_005609.4(PYGM):c.897C>T (p.Phe299=)
|
rs114363966
|
0.00004
|
NM_005908.4(MANBA):c.178-10G>A
|
rs376203233
|
0.00004
|
NM_005908.4(MANBA):c.2158-8C>T
|
rs770698295
|
0.00004
|
NM_005908.4(MANBA):c.673+19T>C
|
rs772893130
|
0.00004
|
NM_006765.4(TUSC3):c.938-12G>C
|
rs762105504
|
0.00004
|
NM_006859.4(LIAS):c.1066+20A>G
|
rs748825373
|
0.00004
|
NM_006859.4(LIAS):c.114C>G (p.Leu38=)
|
rs750439302
|
0.00004
|
NM_006859.4(LIAS):c.27C>A (p.Ala9=)
|
rs553110956
|
0.00004
|
NM_006859.4(LIAS):c.737+9G>A
|
rs750744754
|
0.00004
|
NM_012434.5(SLC17A5):c.1426C>T (p.Leu476=)
|
rs773917333
|
0.00004
|
NM_012434.5(SLC17A5):c.189G>A (p.Ala63=)
|
rs924848481
|
0.00004
|
NM_012434.5(SLC17A5):c.526-4T>A
|
rs759145883
|
0.00004
|
NM_012434.5(SLC17A5):c.614-10G>A
|
rs565101031
|
0.00004
|
NM_012434.5(SLC17A5):c.72G>C (p.Pro24=)
|
rs974333245
|
0.00004
|
NM_016042.4(EXOSC3):c.24G>T (p.Ala8=)
|
rs755145404
|
0.00004
|
NM_016203.4(PRKAG2):c.1051+10A>G
|
rs773560289
|
0.00004
|
NM_016203.4(PRKAG2):c.1335C>T (p.Ile445=)
|
rs781153622
|
0.00004
|
NM_016203.4(PRKAG2):c.1614A>G (p.Ala538=)
|
rs368852903
|
0.00004
|
NM_016203.4(PRKAG2):c.165C>T (p.Ser55=)
|
rs202056358
|
0.00004
|
NM_016203.4(PRKAG2):c.166G>A (p.Gly56Arg)
|
rs397517266
|
0.00004
|
NM_016203.4(PRKAG2):c.1703C>T (p.Thr568Met)
|
rs540525001
|
0.00004
|
NM_016203.4(PRKAG2):c.312C>T (p.Thr104=)
|
rs397517268
|
0.00004
|
NM_016203.4(PRKAG2):c.346C>T (p.Arg116Cys)
|
rs730880989
|
0.00004
|
NM_016203.4(PRKAG2):c.489G>A (p.Pro163=)
|
rs556852534
|
0.00004
|
NM_016203.4(PRKAG2):c.617C>T (p.Pro206Leu)
|
rs182084936
|
0.00004
|
NM_016203.4(PRKAG2):c.981A>G (p.Leu327=)
|
rs764162597
|
0.00004
|
NM_016219.5(MAN1B1):c.1695G>A (p.Thr565=)
|
rs372125925
|
0.00004
|
NM_016219.5(MAN1B1):c.426G>A (p.Ala142=)
|
rs199738190
|
0.00004
|
NM_016219.5(MAN1B1):c.620+9C>T
|
rs535697514
|
0.00004
|
NM_016219.5(MAN1B1):c.731-6del
|
rs762904705
|
0.00004
|
NM_021957.4(GYS2):c.60C>T (p.Val20=)
|
rs779375076
|
0.00004
|
NM_021957.4(GYS2):c.678+15C>T
|
rs746053377
|
0.00004
|
NM_021957.4(GYS2):c.942-12G>A
|
rs367916210
|
0.00004
|
NM_022042.4(SLC26A1):c.*875G>A
|
rs559064100
|
0.00004
|
NM_024989.4(PGAP1):c.1008T>C (p.Asn336=)
|
rs189590639
|
0.00004
|
NM_024989.4(PGAP1):c.1691T>C (p.Leu564Ser)
|
rs572992003
|
0.00004
|
NM_024989.4(PGAP1):c.546A>G (p.Ala182=)
|
rs551623105
|
0.00004
|
NM_031229.4(RBCK1):c.1356C>T (p.Ile452=)
|
rs746385953
|
0.00004
|
NM_031229.4(RBCK1):c.1374C>T (p.Asp458=)
|
rs780494996
|
0.00004
|
NM_031229.4(RBCK1):c.1428C>T (p.Thr476=)
|
rs375635112
|
0.00004
|
NM_031229.4(RBCK1):c.513C>G (p.Gly171=)
|
rs777854248
|
0.00004
|
NM_031229.4(RBCK1):c.69T>G (p.Asp23Glu)
|
rs748386516
|
0.00004
|
NM_033159.4(HYAL1):c.1188G>T (p.Gly396=)
|
rs781878519
|
0.00004
|
NM_033159.4(HYAL1):c.258G>A (p.Thr86=)
|
rs1185256255
|
0.00004
|
NM_033159.4(HYAL1):c.419A>G (p.Asn140Ser)
|
rs587637619
|
0.00004
|
NM_033159.4(HYAL1):c.483T>C (p.Asp161=)
|
rs368360137
|
0.00004
|
NM_053013.4(ENO3):c.182-16C>T
|
rs557068790
|
0.00004
|
NM_152419.3(HGSNAT):c.118+17T>C
|
rs912987473
|
0.00004
|
NM_152419.3(HGSNAT):c.1347C>T (p.Asp449=)
|
rs752420375
|
0.00004
|
NM_152419.3(HGSNAT):c.1839C>T (p.Ile613=)
|
rs772611068
|
0.00004
|
NM_152419.3(HGSNAT):c.277G>T (p.Ala93Ser)
|
rs368452647
|
0.00004
|
NM_152419.3(HGSNAT):c.285G>A (p.Lys95=)
|
rs752466254
|
0.00004
|
NM_152419.3(HGSNAT):c.840C>T (p.Leu280=)
|
rs1000820440
|
0.00004
|
NM_152419.3(HGSNAT):c.87G>C (p.Ser29=)
|
rs1461385635
|
0.00004
|
NM_000027.4(AGA):c.696T>C (p.His232=)
|
rs1211143576
|
0.00003
|
NM_000035.4(ALDOB):c.507C>T (p.Asn169=)
|
rs746351347
|
0.00003
|
NM_000035.4(ALDOB):c.522C>T (p.Tyr174=)
|
rs752902486
|
0.00003
|
NM_000046.5(ARSB):c.129G>A (p.Arg43=)
|
rs761491971
|
0.00003
|
NM_000046.5(ARSB):c.1500C>T (p.Ser500=)
|
rs762978908
|
0.00003
|
NM_000046.5(ARSB):c.313-14T>A
|
rs764757378
|
0.00003
|
NM_000046.5(ARSB):c.501A>G (p.Gly167=)
|
rs774949257
|
0.00003
|
NM_000046.5(ARSB):c.729G>A (p.Glu243=)
|
rs144029271
|
0.00003
|
NM_000046.5(ARSB):c.960C>T (p.Ser320=)
|
rs762614315
|
0.00003
|
NM_000108.5(DLD):c.105C>T (p.Tyr35=)
|
rs747810875
|
0.00003
|
NM_000108.5(DLD):c.342C>T (p.Ser114=)
|
rs757785953
|
0.00003
|
NM_000108.5(DLD):c.495G>A (p.Thr165=)
|
rs202125454
|
0.00003
|
NM_000108.5(DLD):c.723A>C (p.Ala241=)
|
rs751488296
|
0.00003
|
NM_000151.4(G6PC1):c.220G>A (p.Val74Ile)
|
rs751959283
|
0.00003
|
NM_000151.4(G6PC1):c.582T>C (p.Thr194=)
|
rs754345839
|
0.00003
|
NM_000151.4(G6PC1):c.870G>A (p.Lys290=)
|
rs368041878
|
0.00003
|
NM_000151.4(G6PC1):c.993G>A (p.Ala331=)
|
rs369238258
|
0.00003
|
NM_000152.5(GAA):c.1059G>A (p.Gln353=)
|
rs376146090
|
0.00003
|
NM_000152.5(GAA):c.1075+12T>G
|
rs370842677
|
0.00003
|
NM_000152.5(GAA):c.1411G>A (p.Glu471Lys)
|
rs189402693
|
0.00003
|
NM_000152.5(GAA):c.1437+8G>A
|
rs779194427
|
0.00003
|
NM_000152.5(GAA):c.1636+10C>A
|
rs778634411
|
0.00003
|
NM_000152.5(GAA):c.1754+16C>T
|
rs369836797
|
0.00003
|
NM_000152.5(GAA):c.1803G>A (p.Ser601=)
|
rs368993048
|
0.00003
|
NM_000152.5(GAA):c.18G>C (p.Pro6=)
|
rs774703637
|
0.00003
|
NM_000152.5(GAA):c.2154C>T (p.Val718=)
|
rs1800311
|
0.00003
|
NM_000152.5(GAA):c.2190-4G>A
|
rs759974338
|
0.00003
|
NM_000152.5(GAA):c.2481+14G>A
|
rs749667983
|
0.00003
|
NM_000152.5(GAA):c.2609G>A (p.Arg870Gln)
|
rs747076541
|
0.00003
|
NM_000152.5(GAA):c.2739C>G (p.Pro913=)
|
rs370765733
|
0.00003
|
NM_000152.5(GAA):c.2757C>T (p.Asn919=)
|
rs766916186
|
0.00003
|
NM_000152.5(GAA):c.277G>A (p.Ala93Thr)
|
rs142481170
|
0.00003
|
NM_000152.5(GAA):c.654C>T (p.Phe218=)
|
rs762830719
|
0.00003
|
NM_000152.5(GAA):c.69C>T (p.Thr23=)
|
rs746351336
|
0.00003
|
NM_000152.5(GAA):c.855C>A (p.Pro285=)
|
rs754080080
|
0.00003
|
NM_000152.5(GAA):c.867G>A (p.Ala289=)
|
rs534515557
|
0.00003
|
NM_000152.5(GAA):c.955+14C>A
|
rs756921041
|
0.00003
|
NM_000154.2(GALK1):c.105G>C (p.Pro35=)
|
rs373829335
|
0.00003
|
NM_000154.2(GALK1):c.1108-12C>T
|
rs755467791
|
0.00003
|
NM_000154.2(GALK1):c.369T>C (p.Pro123=)
|
rs1303520004
|
0.00003
|
NM_000154.2(GALK1):c.42C>T (p.Ala14=)
|
rs905607688
|
0.00003
|
NM_000154.2(GALK1):c.531C>T (p.Phe177=)
|
rs147739431
|
0.00003
|
NM_000155.4(GALT):c.210T>G (p.Pro70=)
|
rs528320335
|
0.00003
|
NM_000155.4(GALT):c.231G>A (p.Gly77=)
|
rs1269693119
|
0.00003
|
NM_000155.4(GALT):c.378-9A>G
|
rs371470838
|
0.00003
|
NM_000155.4(GALT):c.777G>A (p.Arg259=)
|
rs111033761
|
0.00003
|
NM_000158.4(GBE1):c.1038G>A (p.Leu346=)
|
rs772442784
|
0.00003
|
NM_000158.4(GBE1):c.143+8C>G
|
rs750447886
|
0.00003
|
NM_000158.4(GBE1):c.1804-20_1804-19del
|
rs776287786
|
0.00003
|
NM_000158.4(GBE1):c.195T>C (p.Gly65=)
|
rs1399020199
|
0.00003
|
NM_000158.4(GBE1):c.450C>T (p.Ser150=)
|
rs766421967
|
0.00003
|
NM_000158.4(GBE1):c.501A>G (p.Glu167=)
|
rs778442735
|
0.00003
|
NM_000181.4(GUSB):c.1224C>T (p.Pro408=)
|
rs757418833
|
0.00003
|
NM_000181.4(GUSB):c.1470C>T (p.Asp490=)
|
rs143084006
|
0.00003
|
NM_000181.4(GUSB):c.1857G>A (p.Ala619=)
|
rs779147312
|
0.00003
|
NM_000199.5(SGSH):c.117G>A (p.Ala39=)
|
rs201132655
|
0.00003
|
NM_000199.5(SGSH):c.1197C>T (p.Asp399=)
|
rs371397297
|
0.00003
|
NM_000199.5(SGSH):c.1365G>A (p.Pro455=)
|
rs750709138
|
0.00003
|
NM_000199.5(SGSH):c.250-10T>C
|
rs771639203
|
0.00003
|
NM_000199.5(SGSH):c.745+9G>A
|
rs559165082
|
0.00003
|
NM_000199.5(SGSH):c.88+9C>G
|
rs750932804
|
0.00003
|
NM_000199.5(SGSH):c.936C>T (p.Tyr312=)
|
rs147716878
|
0.00003
|
NM_000199.5(SGSH):c.987G>A (p.Pro329=)
|
rs752176531
|
0.00003
|
NM_000202.8(IDS):c.1047C>T (p.Ser349=)
|
rs375836575
|
0.00003
|
NM_000202.8(IDS):c.1100C>T (p.Thr367Met)
|
rs782588855
|
0.00003
|
NM_000202.8(IDS):c.1270G>A (p.Val424Ile)
|
rs373820890
|
0.00003
|
NM_000202.8(IDS):c.1284C>T (p.His428=)
|
rs782163574
|
0.00003
|
NM_000202.8(IDS):c.1372C>T (p.Arg458Cys)
|
rs782340858
|
0.00003
|
NM_000202.8(IDS):c.309C>T (p.Tyr103=)
|
rs1174495581
|
0.00003
|
NM_000202.8(IDS):c.477T>C (p.His159=)
|
rs782649306
|
0.00003
|
NM_000202.8(IDS):c.759C>T (p.Pro253=)
|
rs1214276270
|
0.00003
|
NM_000202.8(IDS):c.852G>A (p.Pro284=)
|
rs782470007
|
0.00003
|
NM_000202.8(IDS):c.982A>G (p.Ile328Val)
|
rs782156020
|
0.00003
|
NM_000203.5(IDUA):c.10C>T (p.Leu4=)
|
rs1042371669
|
0.00003
|
NM_000203.5(IDUA):c.1189+7C>T
|
rs200516322
|
0.00003
|
NM_000203.5(IDUA):c.1288C>T (p.Pro430Ser)
|
rs1340171664
|
0.00003
|
NM_000203.5(IDUA):c.1365G>C (p.Ala455=)
|
rs1454281576
|
0.00003
|
NM_000203.5(IDUA):c.1395C>T (p.Pro465=)
|
rs1324471292
|
0.00003
|
NM_000203.5(IDUA):c.1425C>T (p.Tyr475=)
|
rs370257928
|
0.00003
|
NM_000203.5(IDUA):c.1525-6G>A
|
rs1560549741
|
0.00003
|
NM_000203.5(IDUA):c.1734G>C (p.Leu578=)
|
rs769042694
|
0.00003
|
NM_000203.5(IDUA):c.1776C>T (p.Tyr592=)
|
rs372033248
|
0.00003
|
NM_000203.5(IDUA):c.1828+16G>A
|
rs368043087
|
0.00003
|
NM_000203.5(IDUA):c.300-19G>A
|
rs774712987
|
0.00003
|
NM_000203.5(IDUA):c.493+8A>G
|
rs770967204
|
0.00003
|
NM_000203.5(IDUA):c.510G>A (p.Ala170=)
|
rs754039388
|
0.00003
|
NM_000203.5(IDUA):c.589+10G>A
|
rs772970567
|
0.00003
|
NM_000203.5(IDUA):c.708C>A (p.Gly236=)
|
rs765110155
|
0.00003
|
NM_000203.5(IDUA):c.792+12C>T
|
rs757783999
|
0.00003
|
NM_000262.3(NAGA):c.598-10C>T
|
rs776249174
|
0.00003
|
NM_000263.4(NAGLU):c.1021+8G>T
|
rs749198686
|
0.00003
|
NM_000263.4(NAGLU):c.1176C>T (p.Thr392=)
|
rs766094935
|
0.00003
|
NM_000263.4(NAGLU):c.1452G>A (p.Gly484=)
|
rs376593763
|
0.00003
|
NM_000263.4(NAGLU):c.1479G>A (p.Ala493=)
|
rs113379621
|
0.00003
|
NM_000263.4(NAGLU):c.1674C>T (p.Tyr558=)
|
rs762031686
|
0.00003
|
NM_000263.4(NAGLU):c.2218G>C (p.Ala740Pro)
|
rs750668298
|
0.00003
|
NM_000263.4(NAGLU):c.255C>T (p.Ala85=)
|
rs1229160465
|
0.00003
|
NM_000263.4(NAGLU):c.47C>T (p.Ala16Val)
|
rs575956298
|
0.00003
|
NM_000263.4(NAGLU):c.531+10C>T
|
rs373999016
|
0.00003
|
NM_000263.4(NAGLU):c.741G>C (p.Gly247=)
|
rs760463334
|
0.00003
|
NM_000263.4(NAGLU):c.813T>C (p.Phe271=)
|
rs776459470
|
0.00003
|
NM_000263.4(NAGLU):c.984C>T (p.Ala328=)
|
rs759609134
|
0.00003
|
NM_000284.4(PDHA1):c.1110C>A (p.Ser370=)
|
rs775280711
|
0.00003
|
NM_000284.4(PDHA1):c.139G>A (p.Glu47Lys)
|
rs745312079
|
0.00003
|
NM_000284.4(PDHA1):c.42C>T (p.Gly14=)
|
rs778260543
|
0.00003
|
NM_000284.4(PDHA1):c.899+8C>T
|
rs766362480
|
0.00003
|
NM_000289.6(PFKM):c.1127+10T>C
|
rs759084382
|
0.00003
|
NM_000289.6(PFKM):c.1158G>A (p.Lys386=)
|
rs1216904332
|
0.00003
|
NM_000289.6(PFKM):c.1311T>C (p.His437=)
|
rs369182995
|
0.00003
|
NM_000289.6(PFKM):c.1413-20C>T
|
rs771066629
|
0.00003
|
NM_000289.6(PFKM):c.2092+17C>T
|
rs773403779
|
0.00003
|
NM_000289.6(PFKM):c.2092+9G>T
|
rs371778846
|
0.00003
|
NM_000289.6(PFKM):c.2233C>T (p.Leu745=)
|
rs771535478
|
0.00003
|
NM_000289.6(PFKM):c.2265C>T (p.Tyr755=)
|
rs374418157
|
0.00003
|
NM_000290.4(PGAM2):c.381C>T (p.Asp127=)
|
rs530105632
|
0.00003
|
NM_000290.4(PGAM2):c.636G>A (p.Thr212=)
|
rs755991460
|
0.00003
|
NM_000292.3(PHKA2):c.285+12C>T
|
rs765795350
|
0.00003
|
NM_000292.3(PHKA2):c.718-19C>T
|
rs770389791
|
0.00003
|
NM_000293.3(PHKB):c.204C>T (p.Thr68=)
|
rs759882590
|
0.00003
|
NM_000293.3(PHKB):c.2343G>A (p.Ala781=)
|
rs764952326
|
0.00003
|
NM_000293.3(PHKB):c.2352C>T (p.Tyr784=)
|
rs570705767
|
0.00003
|
NM_000293.3(PHKB):c.2856G>A (p.Thr952=)
|
rs191428598
|
0.00003
|
NM_000293.3(PHKB):c.305+10T>G
|
rs763432163
|
0.00003
|
NM_000293.3(PHKB):c.447T>C (p.Leu149=)
|
rs374963473
|
0.00003
|
NM_000293.3(PHKB):c.870+7C>T
|
rs372819242
|
0.00003
|
NM_000308.4(CTSA):c.1341C>T (p.Ile447=)
|
rs530181128
|
0.00003
|
NM_000308.4(CTSA):c.692+13G>A
|
rs371053390
|
0.00003
|
NM_000308.4(CTSA):c.869+20C>T
|
rs765166702
|
0.00003
|
NM_000340.2(SLC2A2):c.109-19A>G
|
rs182772346
|
0.00003
|
NM_000404.4(GLB1):c.1009C>T (p.Leu337=)
|
rs376034559
|
0.00003
|
NM_000404.4(GLB1):c.1092T>C (p.Pro364=)
|
rs750932808
|
0.00003
|
NM_000404.4(GLB1):c.1348-16G>A
|
rs777856183
|
0.00003
|
NM_000404.4(GLB1):c.1470C>T (p.Asn490=)
|
rs748007307
|
0.00003
|
NM_000404.4(GLB1):c.1480-5T>C
|
rs929129635
|
0.00003
|
NM_000404.4(GLB1):c.1767C>T (p.Gly589=)
|
rs373181758
|
0.00003
|
NM_000404.4(GLB1):c.1851C>T (p.Thr617=)
|
rs1257941311
|
0.00003
|
NM_000404.4(GLB1):c.1959C>T (p.Pro653=)
|
rs1374582666
|
0.00003
|
NM_000404.4(GLB1):c.2016A>G (p.Ser672=)
|
rs756403702
|
0.00003
|
NM_000507.4(FBP1):c.306C>T (p.His102=)
|
rs776366063
|
0.00003
|
NM_000512.5(GALNS):c.1139+19C>T
|
rs777834560
|
0.00003
|
NM_000512.5(GALNS):c.1336C>T (p.Arg446Trp)
|
rs557217245
|
0.00003
|
NM_000512.5(GALNS):c.1365-20C>T
|
rs1044328485
|
0.00003
|
NM_000512.5(GALNS):c.1374C>T (p.Ser458=)
|
rs534204869
|
0.00003
|
NM_000512.5(GALNS):c.330G>A (p.Pro110=)
|
rs374355420
|
0.00003
|
NM_000512.5(GALNS):c.822C>T (p.Asp274=)
|
rs764817769
|
0.00003
|
NM_000512.5(GALNS):c.885C>T (p.Ser295=)
|
rs766121335
|
0.00003
|
NM_000528.4(MAN2B1):c.1056C>T (p.Leu352=)
|
rs375898929
|
0.00003
|
NM_000528.4(MAN2B1):c.1677G>A (p.Ala559=)
|
rs762375401
|
0.00003
|
NM_000528.4(MAN2B1):c.1779A>G (p.Pro593=)
|
rs146778702
|
0.00003
|
NM_000528.4(MAN2B1):c.1818C>T (p.Thr606=)
|
rs746035776
|
0.00003
|
NM_000528.4(MAN2B1):c.1831-11T>C
|
rs1030378548
|
0.00003
|
NM_000528.4(MAN2B1):c.2034C>A (p.Ile678=)
|
rs546913005
|
0.00003
|
NM_000528.4(MAN2B1):c.2253G>A (p.Glu751=)
|
rs781197939
|
0.00003
|
NM_000528.4(MAN2B1):c.2298C>T (p.Asn766=)
|
rs746514019
|
0.00003
|
NM_000528.4(MAN2B1):c.2946G>A (p.Pro982=)
|
rs192184706
|
0.00003
|
NM_000528.4(MAN2B1):c.322T>C (p.Leu108=)
|
rs766694689
|
0.00003
|
NM_000528.4(MAN2B1):c.631-19T>C
|
rs1335847495
|
0.00003
|
NM_000528.4(MAN2B1):c.840G>A (p.Glu280=)
|
rs764312812
|
0.00003
|
NM_000528.4(MAN2B1):c.921C>T (p.Tyr307=)
|
rs35087690
|
0.00003
|
NM_000642.3(AGL):c.1736-7T>C
|
rs1224630568
|
0.00003
|
NM_000642.3(AGL):c.2034T>C (p.Thr678=)
|
rs1440427781
|
0.00003
|
NM_000642.3(AGL):c.2814T>G (p.Gly938=)
|
rs147590282
|
0.00003
|
NM_000642.3(AGL):c.2950-5T>G
|
rs760229683
|
0.00003
|
NM_000642.3(AGL):c.3345A>T (p.Gly1115=)
|
rs758265909
|
0.00003
|
NM_000642.3(AGL):c.4413G>A (p.Pro1471=)
|
rs1049817296
|
0.00003
|
NM_000642.3(AGL):c.669T>C (p.Ala223=)
|
rs764000104
|
0.00003
|
NM_000642.3(AGL):c.87T>C (p.Tyr29=)
|
rs768278283
|
0.00003
|
NM_000891.3(KCNJ2):c.1206G>A (p.Thr402=)
|
rs1279223538
|
0.00003
|
NM_000891.3(KCNJ2):c.1227C>T (p.His409=)
|
rs933444870
|
0.00003
|
NM_000891.3(KCNJ2):c.1259C>T (p.Pro420Leu)
|
rs749707062
|
0.00003
|
NM_000891.3(KCNJ2):c.513C>T (p.Ile171=)
|
rs573888708
|
0.00003
|
NM_000925.4(PDHB):c.42+16C>T
|
rs764495667
|
0.00003
|
NM_000925.4(PDHB):c.81G>A (p.Ala27=)
|
rs745487481
|
0.00003
|
NM_000925.4(PDHB):c.96+14G>C
|
rs774007894
|
0.00003
|
NM_001008216.2(GALE):c.924C>T (p.Tyr308=)
|
rs377444727
|
0.00003
|
NM_001008216.2(GALE):c.988+7G>A
|
rs200182186
|
0.00003
|
NM_001040716.2(PC):c.1020C>G (p.Thr340=)
|
rs201344655
|
0.00003
|
NM_001040716.2(PC):c.1297G>A (p.Gly433Ser)
|
rs908978048
|
0.00003
|
NM_001040716.2(PC):c.1519G>A (p.Val507Ile)
|
rs555210692
|
0.00003
|
NM_001040716.2(PC):c.1530C>T (p.Asn510=)
|
rs755162836
|
0.00003
|
NM_001040716.2(PC):c.1581C>T (p.Pro527=)
|
rs570919766
|
0.00003
|
NM_001040716.2(PC):c.1770C>T (p.Ile590=)
|
rs199923862
|
0.00003
|
NM_001040716.2(PC):c.1902C>T (p.Ile634=)
|
rs756874373
|
0.00003
|
NM_001040716.2(PC):c.2076G>A (p.Ala692=)
|
rs753064456
|
0.00003
|
NM_001040716.2(PC):c.2124C>T (p.Gly708=)
|
rs200488501
|
0.00003
|
NM_001040716.2(PC):c.2133C>T (p.Ala711=)
|
rs201327739
|
0.00003
|
NM_001040716.2(PC):c.2224-4C>T
|
rs750993796
|
0.00003
|
NM_001040716.2(PC):c.2247C>T (p.Pro749=)
|
rs776576677
|
0.00003
|
NM_001040716.2(PC):c.264C>T (p.Arg88=)
|
rs757830976
|
0.00003
|
NM_001040716.2(PC):c.2703G>A (p.Leu901=)
|
rs187166676
|
0.00003
|
NM_001040716.2(PC):c.3336C>T (p.Ile1112=)
|
rs776196411
|
0.00003
|
NM_001040716.2(PC):c.3396C>G (p.Ala1132=)
|
rs553914941
|
0.00003
|
NM_001040716.2(PC):c.3435G>T (p.Met1145Ile)
|
rs201796252
|
0.00003
|
NM_001040716.2(PC):c.3483T>C (p.His1161=)
|
rs190223302
|
0.00003
|
NM_001040716.2(PC):c.3514G>A (p.Asp1172Asn)
|
rs568925019
|
0.00003
|
NM_001040716.2(PC):c.440G>A (p.Arg147His)
|
rs748987495
|
0.00003
|
NM_001040716.2(PC):c.752-5C>T
|
rs770994083
|
0.00003
|
NM_001164277.2(SLC37A4):c.171G>A (p.Ser57=)
|
rs782713974
|
0.00003
|
NM_001164277.2(SLC37A4):c.381+15A>G
|
rs1057520372
|
0.00003
|
NM_001164277.2(SLC37A4):c.390G>A (p.Glu130=)
|
rs752687782
|
0.00003
|
NM_001164277.2(SLC37A4):c.834C>T (p.Ile278=)
|
rs781864019
|
0.00003
|
NM_001164277.2(SLC37A4):c.986-18C>T
|
rs374784735
|
0.00003
|
NM_001243177.4(ALDOA):c.945G>C (p.Val315=)
|
rs780658545
|
0.00003
|
NM_001352514.2(HLCS):c.1119C>T (p.Pro373=)
|
rs768927843
|
0.00003
|
NM_001352514.2(HLCS):c.1821G>A (p.Leu607=)
|
rs147495853
|
0.00003
|
NM_001352514.2(HLCS):c.1911G>A (p.Pro637=)
|
rs775832153
|
0.00003
|
NM_001352514.2(HLCS):c.1935C>T (p.Ile645=)
|
rs749728724
|
0.00003
|
NM_001352514.2(HLCS):c.2181C>T (p.Ile727=)
|
rs375456567
|
0.00003
|
NM_001352514.2(HLCS):c.2184C>T (p.Gly728=)
|
rs370277326
|
0.00003
|
NM_001352514.2(HLCS):c.2332T>G (p.Leu778Val)
|
rs199517800
|
0.00003
|
NM_001352514.2(HLCS):c.2451-8C>G
|
rs373177254
|
0.00003
|
NM_001352514.2(HLCS):c.2511C>T (p.Asp837=)
|
rs761596791
|
0.00003
|
NM_001352514.2(HLCS):c.885C>T (p.Pro295=)
|
rs139989284
|
0.00003
|
NM_001360016.2(G6PD):c.1023C>T (p.Val341=)
|
rs201321423
|
0.00003
|
NM_001360016.2(G6PD):c.1051+11C>G
|
rs1258960910
|
0.00003
|
NM_001360016.2(G6PD):c.1068G>A (p.Leu356=)
|
rs368898047
|
0.00003
|
NM_001360016.2(G6PD):c.1131C>T (p.Ala377=)
|
rs782432107
|
0.00003
|
NM_001360016.2(G6PD):c.1356C>T (p.Phe452=)
|
rs370808115
|
0.00003
|
NM_001360016.2(G6PD):c.1365-7C>T
|
rs1168711308
|
0.00003
|
NM_001360016.2(G6PD):c.1482G>A (p.Glu494=)
|
rs1230419397
|
0.00003
|
NM_001360016.2(G6PD):c.158+13C>T
|
rs990745079
|
0.00003
|
NM_001360016.2(G6PD):c.644+20G>A
|
rs782108377
|
0.00003
|
NM_001360016.2(G6PD):c.645-7C>T
|
rs782468778
|
0.00003
|
NM_001360016.2(G6PD):c.864+14C>T
|
rs782416820
|
0.00003
|
NM_001365304.2(LOC112694756):c.*834-9C>T
|
rs1057523259
|
0.00003
|
NM_001370658.1(BTD):c.1456C>T (p.Leu486=)
|
rs774018881
|
0.00003
|
NM_001370658.1(BTD):c.400-10T>G
|
rs750494564
|
0.00003
|
NM_001370658.1(BTD):c.72C>T (p.Thr24=)
|
rs765550405
|
0.00003
|
NM_001370658.1(BTD):c.997G>A (p.Glu333Lys)
|
rs753466926
|
0.00003
|
NM_001739.2(CA5A):c.687C>T (p.Thr229=)
|
rs369600488
|
0.00003
|
NM_001931.5(DLAT):c.1678-7C>T
|
rs781917992
|
0.00003
|
NM_001931.5(DLAT):c.991C>G (p.Pro331Ala)
|
rs78320677
|
0.00003
|
NM_002076.4(GNS):c.1155C>A (p.Asp385Glu)
|
rs755021062
|
0.00003
|
NM_002076.4(GNS):c.708G>A (p.Ser236=)
|
rs775884527
|
0.00003
|
NM_002076.4(GNS):c.792+12C>T
|
rs749901174
|
0.00003
|
NM_002103.5(GYS1):c.1128C>T (p.Asn376=)
|
rs763282805
|
0.00003
|
NM_002103.5(GYS1):c.1169+14G>A
|
rs772135585
|
0.00003
|
NM_002103.5(GYS1):c.222G>A (p.Arg74=)
|
rs748174034
|
0.00003
|
NM_002103.5(GYS1):c.741G>A (p.Ala247=)
|
rs3745692
|
0.00003
|
NM_002103.5(GYS1):c.984C>T (p.Ile328=)
|
rs769000809
|
0.00003
|
NM_002294.3(LAMP2):c.1000G>C (p.Glu334Gln)
|
rs766962315
|
0.00003
|
NM_002294.3(LAMP2):c.1083G>A (p.Lys361=)
|
rs1334549485
|
0.00003
|
NM_002294.3(LAMP2):c.276C>T (p.Phe92=)
|
rs754577706
|
0.00003
|
NM_002294.3(LAMP2):c.472A>G (p.Thr158Ala)
|
rs138374063
|
0.00003
|
NM_002294.3(LAMP2):c.519A>G (p.Val173=)
|
rs1060504543
|
0.00003
|
NM_002294.3(LAMP2):c.64+20C>G
|
rs1346805727
|
0.00003
|
NM_002294.3(LAMP2):c.640C>A (p.Pro214Thr)
|
rs776101722
|
0.00003
|
NM_002294.3(LAMP2):c.65-20A>T
|
rs773064698
|
0.00003
|
NM_002637.4(PHKA1):c.2403A>G (p.Glu801=)
|
rs782389254
|
0.00003
|
NM_002637.4(PHKA1):c.2578C>T (p.Pro860Ser)
|
rs781963831
|
0.00003
|
NM_002637.4(PHKA1):c.430T>G (p.Phe144Val)
|
rs782285281
|
0.00003
|
NM_003384.3(VRK1):c.1069-9A>G
|
rs767585930
|
0.00003
|
NM_003384.3(VRK1):c.577-19G>C
|
rs781055432
|
0.00003
|
NM_003384.3(VRK1):c.882C>T (p.Asn294=)
|
rs541660707
|
0.00003
|
NM_004130.4(GYG1):c.46G>A (p.Ala16Thr)
|
rs200947378
|
0.00003
|
NM_004130.4(GYG1):c.609-14C>T
|
rs199593097
|
0.00003
|
NM_005327.7(HADH):c.486A>G (p.Arg162=)
|
rs377521547
|
0.00003
|
NM_005327.7(HADH):c.714C>T (p.Asp238=)
|
rs201739885
|
0.00003
|
NM_005609.4(PYGM):c.1093-9G>C
|
rs571244371
|
0.00003
|
NM_005609.4(PYGM):c.1176C>T (p.Leu392=)
|
rs374770169
|
0.00003
|
NM_005609.4(PYGM):c.1362C>T (p.Asn454=)
|
rs375294505
|
0.00003
|
NM_005609.4(PYGM):c.1668C>G (p.Val556=)
|
rs771619843
|
0.00003
|
NM_005609.4(PYGM):c.1769-6C>T
|
rs1404563963
|
0.00003
|
NM_005609.4(PYGM):c.2052C>T (p.Leu684=)
|
rs753017949
|
0.00003
|
NM_005609.4(PYGM):c.2367C>T (p.Ser789=)
|
rs750356895
|
0.00003
|
NM_005609.4(PYGM):c.2412G>A (p.Arg804=)
|
rs199927544
|
0.00003
|
NM_005609.4(PYGM):c.411G>A (p.Leu137=)
|
rs746345515
|
0.00003
|
NM_005609.4(PYGM):c.60C>T (p.Ala20=)
|
rs770037071
|
0.00003
|
NM_005609.4(PYGM):c.661-4G>A
|
rs200126118
|
0.00003
|
NM_005609.4(PYGM):c.681C>T (p.Tyr227=)
|
rs377503100
|
0.00003
|
NM_005609.4(PYGM):c.780C>T (p.Val260=)
|
rs754415422
|
0.00003
|
NM_006859.4(LIAS):c.168G>A (p.Arg56=)
|
rs768182597
|
0.00003
|
NM_006859.4(LIAS):c.375C>T (p.Thr125=)
|
rs538035764
|
0.00003
|
NM_006859.4(LIAS):c.738-20A>G
|
rs777702565
|
0.00003
|
NM_012434.5(SLC17A5):c.297G>A (p.Lys99=)
|
rs755101287
|
0.00003
|
NM_012434.5(SLC17A5):c.804A>G (p.Ser268=)
|
rs750559102
|
0.00003
|
NM_016203.4(PRKAG2):c.1234-6G>A
|
rs780341115
|
0.00003
|
NM_016203.4(PRKAG2):c.1399+15C>T
|
rs374582991
|
0.00003
|
NM_016203.4(PRKAG2):c.1584+8G>A
|
rs762649633
|
0.00003
|
NM_016203.4(PRKAG2):c.1679-10C>T
|
rs201826453
|
0.00003
|
NM_016203.4(PRKAG2):c.297C>T (p.Pro99=)
|
rs767950372
|
0.00003
|
NM_016203.4(PRKAG2):c.318C>T (p.Phe106=)
|
rs373277092
|
0.00003
|
NM_016203.4(PRKAG2):c.342G>A (p.Pro114=)
|
rs147365679
|
0.00003
|
NM_016203.4(PRKAG2):c.554A>T (p.Glu185Val)
|
rs397517274
|
0.00003
|
NM_016203.4(PRKAG2):c.591C>T (p.Pro197=)
|
rs587781126
|
0.00003
|
NM_016203.4(PRKAG2):c.864+13C>T
|
rs727505238
|
0.00003
|
NM_016219.5(MAN1B1):c.1461C>T (p.Tyr487=)
|
rs373672617
|
0.00003
|
NM_016219.5(MAN1B1):c.1827C>T (p.Arg609=)
|
rs201933207
|
0.00003
|
NM_016219.5(MAN1B1):c.708G>A (p.Pro236=)
|
rs536127999
|
0.00003
|
NM_016219.5(MAN1B1):c.792C>T (p.Tyr264=)
|
rs777042053
|
0.00003
|
NM_021957.4(GYS2):c.1384C>A (p.Arg462=)
|
rs1377248525
|
0.00003
|
NM_021957.4(GYS2):c.495+14T>C
|
rs113287204
|
0.00003
|
NM_021957.4(GYS2):c.627T>A (p.Leu209=)
|
rs767838400
|
0.00003
|
NM_024989.4(PGAP1):c.2421C>T (p.Asn807=)
|
rs145600035
|
0.00003
|
NM_031229.4(RBCK1):c.1380C>T (p.Cys460=)
|
rs377305490
|
0.00003
|
NM_031229.4(RBCK1):c.63C>T (p.Gly21=)
|
rs749576109
|
0.00003
|
NM_031229.4(RBCK1):c.855C>T (p.Cys285=)
|
rs776856644
|
0.00003
|
NM_031229.4(RBCK1):c.861G>A (p.Ser287=)
|
rs1053428615
|
0.00003
|
NM_031229.4(RBCK1):c.917+9C>T
|
rs752577528
|
0.00003
|
NM_033159.4(HYAL1):c.1146T>C (p.Leu382=)
|
rs1259207908
|
0.00003
|
NM_033159.4(HYAL1):c.201C>T (p.Arg67=)
|
rs781862008
|
0.00003
|
NM_033159.4(HYAL1):c.321C>G (p.Ala107=)
|
rs374789186
|
0.00003
|
NM_033159.4(HYAL1):c.588C>T (p.Arg196=)
|
rs782601965
|
0.00003
|
NM_033159.4(HYAL1):c.618C>T (p.Asp206=)
|
rs782079716
|
0.00003
|
NM_033159.4(HYAL1):c.771G>A (p.Lys257=)
|
rs781943397
|
0.00003
|
NM_053013.4(ENO3):c.1047G>A (p.Ser349=)
|
rs527864393
|
0.00003
|
NM_053013.4(ENO3):c.1089T>C (p.Asn363=)
|
rs533687145
|
0.00003
|
NM_053013.4(ENO3):c.1176+7G>A
|
rs780236325
|
0.00003
|
NM_152419.3(HGSNAT):c.1044G>A (p.Val348=)
|
rs374020825
|
0.00003
|
NM_152419.3(HGSNAT):c.1129-6A>G
|
rs777965568
|
0.00003
|
NM_152419.3(HGSNAT):c.1250+11C>A
|
rs185075731
|
0.00003
|
NM_152419.3(HGSNAT):c.1326C>T (p.Ile442=)
|
rs765410268
|
0.00003
|
NM_152419.3(HGSNAT):c.234+17A>G
|
rs1177889475
|
0.00003
|
NM_152419.3(HGSNAT):c.563+20C>T
|
rs367934394
|
0.00003
|
NM_152419.3(HGSNAT):c.654G>A (p.Arg218=)
|
rs561712734
|
0.00003
|
NM_152419.3(HGSNAT):c.711G>A (p.Pro237=)
|
rs376484914
|
0.00003
|
NM_198586.3(NHLRC1):c.1017T>C (p.Ser339=)
|
rs747655441
|
0.00003
|
NM_198586.3(NHLRC1):c.855G>C (p.Leu285=)
|
rs375475285
|
0.00003
|
NM_000027.4(AGA):c.129G>A (p.Ala43=)
|
rs780842670
|
0.00002
|
NM_000027.4(AGA):c.171G>A (p.Val57=)
|
rs750795098
|
0.00002
|
NM_000027.4(AGA):c.210C>T (p.Asp70=)
|
rs762870187
|
0.00002
|
NM_000027.4(AGA):c.27G>T (p.Val9=)
|
rs764924616
|
0.00002
|
NM_000027.4(AGA):c.698+10T>C
|
rs756908895
|
0.00002
|
NM_000027.4(AGA):c.738T>C (p.Tyr246=)
|
rs758804988
|
0.00002
|
NM_000035.4(ALDOB):c.1068G>A (p.Ser356=)
|
rs377173333
|
0.00002
|
NM_000035.4(ALDOB):c.255C>T (p.Tyr85=)
|
rs761063847
|
0.00002
|
NM_000035.4(ALDOB):c.465C>T (p.Ala155=)
|
rs569981883
|
0.00002
|
NM_000035.4(ALDOB):c.690G>A (p.Lys230=)
|
rs376978142
|
0.00002
|
NM_000035.4(ALDOB):c.780T>C (p.Thr260=)
|
rs965153604
|
0.00002
|
NM_000035.4(ALDOB):c.954T>C (p.Ala318=)
|
rs572044496
|
0.00002
|
NM_000035.4(ALDOB):c.966G>A (p.Glu322=)
|
rs149166711
|
0.00002
|
NM_000046.5(ARSB):c.1125C>T (p.Asp375=)
|
rs780432111
|
0.00002
|
NM_000046.5(ARSB):c.1296A>T (p.Ala432=)
|
rs1471453713
|
0.00002
|
NM_000046.5(ARSB):c.1425T>C (p.Phe475=)
|
rs778250810
|
0.00002
|
NM_000046.5(ARSB):c.1480A>G (p.Ile494Val)
|
rs140415504
|
0.00002
|
NM_000046.5(ARSB):c.246G>A (p.Leu82=)
|
rs1035210606
|
0.00002
|
NM_000046.5(ARSB):c.76C>T (p.Leu26=)
|
rs1220314595
|
0.00002
|
NM_000046.5(ARSB):c.963G>A (p.Leu321=)
|
rs932761237
|
0.00002
|
NM_000108.5(DLD):c.1503G>A (p.Ala501=)
|
rs766286119
|
0.00002
|
NM_000108.5(DLD):c.36C>T (p.Ala12=)
|
rs780127925
|
0.00002
|
NM_000108.5(DLD):c.45C>G (p.Gly15=)
|
rs570539642
|
0.00002
|
NM_000108.5(DLD):c.528A>T (p.Thr176=)
|
rs1391814799
|
0.00002
|
NM_000108.5(DLD):c.597A>T (p.Thr199=)
|
rs768248572
|
0.00002
|
NM_000108.5(DLD):c.684+10G>A
|
rs1345267865
|
0.00002
|
NM_000108.5(DLD):c.735A>G (p.Leu245=)
|
rs754865063
|
0.00002
|
NM_000147.5(FUCA1):c.1260+7A>C
|
rs771229488
|
0.00002
|
NM_000147.5(FUCA1):c.1347C>A (p.Pro449=)
|
rs750761317
|
0.00002
|
NM_000147.5(FUCA1):c.438G>A (p.Pro146=)
|
rs766878135
|
0.00002
|
NM_000147.5(FUCA1):c.532C>T (p.Arg178Cys)
|
rs149540896
|
0.00002
|
NM_000147.5(FUCA1):c.662+8A>G
|
rs371032301
|
0.00002
|
NM_000147.5(FUCA1):c.6G>A (p.Arg2=)
|
rs1431712214
|
0.00002
|
NM_000151.4(G6PC1):c.563-6A>G
|
rs2056090751
|
0.00002
|
NM_000151.4(G6PC1):c.66T>C (p.Asn22=)
|
rs766886771
|
0.00002
|
NM_000151.4(G6PC1):c.960G>T (p.Leu320=)
|
rs531727073
|
0.00002
|
NM_000152.5(GAA):c.1053G>T (p.Val351=)
|
rs773063199
|
0.00002
|
NM_000152.5(GAA):c.1083G>A (p.Pro361=)
|
rs781379047
|
0.00002
|
NM_000152.5(GAA):c.1194+16_1194+18del
|
rs750576595
|
0.00002
|
NM_000152.5(GAA):c.1194+17G>T
|
rs548850587
|
0.00002
|
NM_000152.5(GAA):c.1275G>A (p.Pro425=)
|
rs762826072
|
0.00002
|
NM_000152.5(GAA):c.1438-11T>A
|
rs376247021
|
0.00002
|
NM_000152.5(GAA):c.1554C>T (p.Asp518=)
|
rs745482879
|
0.00002
|
NM_000152.5(GAA):c.1560C>T (p.Asn520=)
|
rs116322271
|
0.00002
|
NM_000152.5(GAA):c.1637-17G>A
|
rs1031721446
|
0.00002
|
NM_000152.5(GAA):c.1815C>T (p.Gly605=)
|
rs756507404
|
0.00002
|
NM_000152.5(GAA):c.1881C>T (p.Ser627=)
|
rs779328815
|
0.00002
|
NM_000152.5(GAA):c.1929G>A (p.Gly643=)
|
rs371096565
|
0.00002
|
NM_000152.5(GAA):c.216C>T (p.Pro72=)
|
rs753287841
|
0.00002
|
NM_000152.5(GAA):c.2331+16C>T
|
rs762495996
|
0.00002
|
NM_000152.5(GAA):c.240A>G (p.Thr80=)
|
rs778124725
|
0.00002
|
NM_000152.5(GAA):c.2445C>T (p.Asn815=)
|
rs755846997
|
0.00002
|
NM_000152.5(GAA):c.2482-19C>T
|
rs750055374
|
0.00002
|
NM_000152.5(GAA):c.2610A>G (p.Arg870=)
|
rs375831200
|
0.00002
|
NM_000152.5(GAA):c.309C>T (p.Cys103=)
|
rs373307393
|
0.00002
|
NM_000152.5(GAA):c.546+2_546+6dup
|
rs753159224
|
0.00002
|
NM_000152.5(GAA):c.67A>G (p.Thr23Ala)
|
rs2289537
|
0.00002
|
NM_000152.5(GAA):c.687C>T (p.Arg229=)
|
rs149814041
|
0.00002
|
NM_000152.5(GAA):c.692+16T>C
|
rs774229249
|
0.00002
|
NM_000152.5(GAA):c.72T>C (p.Ala24=)
|
rs747380728
|
0.00002
|
NM_000152.5(GAA):c.924C>T (p.His308=)
|
rs370105640
|
0.00002
|
NM_000152.5(GAA):c.972G>A (p.Pro324=)
|
rs763445243
|
0.00002
|
NM_000154.2(GALK1):c.1032G>A (p.Thr344=)
|
rs771995336
|
0.00002
|
NM_000154.2(GALK1):c.1035C>T (p.Gly345=)
|
rs576223041
|
0.00002
|
NM_000154.2(GALK1):c.1089C>T (p.His363=)
|
rs200502537
|
0.00002
|
NM_000154.2(GALK1):c.1107+9G>A
|
rs763207227
|
0.00002
|
NM_000154.2(GALK1):c.1155T>C (p.Asp385=)
|
rs747793390
|
0.00002
|
NM_000154.2(GALK1):c.171G>A (p.Leu57=)
|
rs779604073
|
0.00002
|
NM_000154.2(GALK1):c.294G>T (p.Ser98=)
|
rs766656571
|
0.00002
|
NM_000154.2(GALK1):c.771G>A (p.Glu257=)
|
rs764099539
|
0.00002
|
NM_000154.2(GALK1):c.948C>T (p.Asp316=)
|
rs370706611
|
0.00002
|
NM_000155.4(GALT):c.1059+11A>G
|
rs886042405
|
0.00002
|
NM_000155.4(GALT):c.1077G>A (p.Arg359=)
|
rs148967210
|
0.00002
|
NM_000155.4(GALT):c.108G>C (p.Pro36=)
|
rs1362198825
|
0.00002
|
NM_000155.4(GALT):c.1116C>T (p.Asp372=)
|
rs757314660
|
0.00002
|
NM_000155.4(GALT):c.1134C>T (p.Ile378=)
|
rs756093267
|
0.00002
|
NM_000155.4(GALT):c.267C>T (p.Tyr89=)
|
rs145628307
|
0.00002
|
NM_000155.4(GALT):c.507+17C>T
|
rs747136664
|
0.00002
|
NM_000155.4(GALT):c.564+9G>A
|
rs373302496
|
0.00002
|
NM_000155.4(GALT):c.609G>A (p.Glu203=)
|
rs770451714
|
0.00002
|
NM_000155.4(GALT):c.799C>T (p.Leu267=)
|
rs764006034
|
0.00002
|
NM_000155.4(GALT):c.905-5G>A
|
rs111258262
|
0.00002
|
NM_000158.4(GBE1):c.1200T>C (p.Val400=)
|
rs1464112150
|
0.00002
|
NM_000158.4(GBE1):c.1204A>G (p.Thr402Ala)
|
rs757297254
|
0.00002
|
NM_000158.4(GBE1):c.1215C>T (p.Pro405=)
|
rs373029683
|
0.00002
|
NM_000158.4(GBE1):c.1446+15G>T
|
rs752305746
|
0.00002
|
NM_000158.4(GBE1):c.1964C>T (p.Ala655Val)
|
rs377105672
|
0.00002
|
NM_000158.4(GBE1):c.279G>A (p.Pro93=)
|
rs76807363
|
0.00002
|
NM_000158.4(GBE1):c.460T>C (p.Leu154=)
|
rs1250639043
|
0.00002
|
NM_000158.4(GBE1):c.477G>A (p.Pro159=)
|
rs369676236
|
0.00002
|
NM_000158.4(GBE1):c.556-6C>T
|
rs754051144
|
0.00002
|
NM_000158.4(GBE1):c.987C>T (p.Tyr329=)
|
rs573055138
|
0.00002
|
NM_000181.4(GUSB):c.1062G>A (p.Ala354=)
|
rs554759648
|
0.00002
|
NM_000181.4(GUSB):c.1066-16C>T
|
rs758677498
|
0.00002
|
NM_000181.4(GUSB):c.1654-4C>T
|
rs563449417
|
0.00002
|
NM_000181.4(GUSB):c.397-19G>A
|
rs759668020
|
0.00002
|
NM_000181.4(GUSB):c.813G>A (p.Ala271=)
|
rs150999162
|
0.00002
|
NM_000199.5(SGSH):c.1053G>A (p.Ala351=)
|
rs757723989
|
0.00002
|
NM_000199.5(SGSH):c.1194C>T (p.Ile398=)
|
rs759758209
|
0.00002
|
NM_000199.5(SGSH):c.135C>T (p.Ile45=)
|
rs775770560
|
0.00002
|
NM_000199.5(SGSH):c.1371T>C (p.Phe457=)
|
rs867660906
|
0.00002
|
NM_000199.5(SGSH):c.1440G>A (p.Val480=)
|
rs769459888
|
0.00002
|
NM_000199.5(SGSH):c.153C>T (p.Asp51=)
|
rs372226239
|
0.00002
|
NM_000199.5(SGSH):c.249+16C>T
|
rs575584322
|
0.00002
|
NM_000199.5(SGSH):c.249+19G>A
|
rs372274963
|
0.00002
|
NM_000199.5(SGSH):c.355+12G>A
|
rs376088400
|
0.00002
|
NM_000199.5(SGSH):c.37C>T (p.Leu13=)
|
rs1412578109
|
0.00002
|
NM_000199.5(SGSH):c.399G>A (p.Pro133=)
|
rs752056541
|
0.00002
|
NM_000199.5(SGSH):c.506+10G>A
|
rs549782167
|
0.00002
|
NM_000199.5(SGSH):c.537C>T (p.Asp179=)
|
rs771440037
|
0.00002
|
NM_000199.5(SGSH):c.657C>T (p.Asp219=)
|
rs756315850
|
0.00002
|
NM_000199.5(SGSH):c.663+8G>A
|
rs773765512
|
0.00002
|
NM_000199.5(SGSH):c.745+17G>A
|
rs778580350
|
0.00002
|
NM_000199.5(SGSH):c.950-11G>A
|
rs374872971
|
0.00002
|
NM_000202.8(IDS):c.1077G>C (p.Leu359=)
|
rs913480314
|
0.00002
|
NM_000202.8(IDS):c.147C>T (p.Pro49=)
|
rs1557340415
|
0.00002
|
NM_000202.8(IDS):c.1560G>A (p.Gly520=)
|
rs782724941
|
0.00002
|
NM_000202.8(IDS):c.1642T>C (p.Leu548=)
|
rs1557337560
|
0.00002
|
NM_000202.8(IDS):c.189T>C (p.Asn63=)
|
rs782083523
|
0.00002
|
NM_000202.8(IDS):c.240+13A>G
|
rs782621152
|
0.00002
|
NM_000202.8(IDS):c.264C>T (p.Arg88=)
|
rs375362189
|
0.00002
|
NM_000202.8(IDS):c.508-6T>C
|
rs1352374568
|
0.00002
|
NM_000202.8(IDS):c.557T>C (p.Val186Ala)
|
rs782007728
|
0.00002
|
NM_000202.8(IDS):c.681G>A (p.Lys227=)
|
rs1557339514
|
0.00002
|
NM_000202.8(IDS):c.880-19A>G
|
rs781883143
|
0.00002
|
NM_000202.8(IDS):c.918T>C (p.Tyr306=)
|
rs781920980
|
0.00002
|
NM_000202.8(IDS):c.955G>A (p.Asp319Asn)
|
rs782549285
|
0.00002
|
NM_000202.8(IDS):c.97A>T (p.Thr33Ser)
|
rs782158763
|
0.00002
|
NM_000202.8(IDS):c.999G>A (p.Ser333=)
|
rs1483244890
|
0.00002
|
NM_000203.5(IDUA):c.1035C>G (p.Leu345=)
|
rs374216702
|
0.00002
|
NM_000203.5(IDUA):c.1093C>G (p.Leu365Val)
|
rs527336882
|
0.00002
|
NM_000203.5(IDUA):c.1107C>T (p.Phe369=)
|
rs769568236
|
0.00002
|
NM_000203.5(IDUA):c.1224C>T (p.Ala408=)
|
rs774488302
|
0.00002
|
NM_000203.5(IDUA):c.1251G>A (p.Thr417=)
|
rs1053501201
|
0.00002
|
NM_000203.5(IDUA):c.1570C>T (p.Leu524=)
|
rs1022872293
|
0.00002
|
NM_000203.5(IDUA):c.158+9T>A
|
rs1348088042
|
0.00002
|
NM_000203.5(IDUA):c.1581C>T (p.Arg527=)
|
rs748327468
|
0.00002
|
NM_000203.5(IDUA):c.1587G>T (p.Ala529=)
|
rs773184536
|
0.00002
|
NM_000203.5(IDUA):c.1764C>T (p.Asp588=)
|
rs751577725
|
0.00002
|
NM_000203.5(IDUA):c.1767T>A (p.Gly589=)
|
rs752327610
|
0.00002
|
NM_000203.5(IDUA):c.1872C>T (p.Asp624=)
|
rs965431982
|
0.00002
|
NM_000203.5(IDUA):c.1941C>G (p.Pro647=)
|
rs764473896
|
0.00002
|
NM_000203.5(IDUA):c.216C>G (p.Leu72=)
|
rs1174720330
|
0.00002
|
NM_000203.5(IDUA):c.237C>T (p.Ala79=)
|
rs769676234
|
0.00002
|
NM_000203.5(IDUA):c.42G>C (p.Leu14=)
|
rs1021970063
|
0.00002
|
NM_000203.5(IDUA):c.494-9C>T
|
rs1488371363
|
0.00002
|
NM_000203.5(IDUA):c.552C>T (p.Asp184=)
|
rs765431965
|
0.00002
|
NM_000203.5(IDUA):c.589+9C>T
|
rs769683019
|
0.00002
|
NM_000203.5(IDUA):c.793-5C>T
|
rs773072991
|
0.00002
|
NM_000203.5(IDUA):c.924G>C (p.Leu308=)
|
rs760198221
|
0.00002
|
NM_000203.5(IDUA):c.939G>A (p.Arg313=)
|
rs540430727
|
0.00002
|
NM_000262.3(NAGA):c.1110C>T (p.Asp370=)
|
rs781670429
|
0.00002
|
NM_000262.3(NAGA):c.759+10T>G
|
rs906746504
|
0.00002
|
NM_000263.4(NAGLU):c.1233G>T (p.Gly411=)
|
rs1412833749
|
0.00002
|
NM_000263.4(NAGLU):c.1278C>T (p.Gly426=)
|
rs1447090076
|
0.00002
|
NM_000263.4(NAGLU):c.1401A>G (p.Pro467=)
|
rs143938936
|
0.00002
|
NM_000263.4(NAGLU):c.1488A>G (p.Leu496=)
|
rs752971320
|
0.00002
|
NM_000263.4(NAGLU):c.1638T>C (p.Ser546=)
|
rs901311027
|
0.00002
|
NM_000263.4(NAGLU):c.1821C>T (p.Asp607=)
|
rs750401625
|
0.00002
|
NM_000263.4(NAGLU):c.198C>T (p.Ser66=)
|
rs1208771812
|
0.00002
|
NM_000263.4(NAGLU):c.2004C>T (p.Ala668=)
|
rs1306672947
|
0.00002
|
NM_000263.4(NAGLU):c.2055T>C (p.Ser685=)
|
rs750078603
|
0.00002
|
NM_000263.4(NAGLU):c.2196C>T (p.Leu732=)
|
rs766039758
|
0.00002
|
NM_000263.4(NAGLU):c.417C>T (p.Ser139=)
|
rs766199293
|
0.00002
|
NM_000263.4(NAGLU):c.729T>G (p.Pro243=)
|
rs941869157
|
0.00002
|
NM_000263.4(NAGLU):c.732A>G (p.Ala244=)
|
rs200729468
|
0.00002
|
NM_000263.4(NAGLU):c.764+11G>A
|
rs756517376
|
0.00002
|
NM_000263.4(NAGLU):c.777G>A (p.Gln259=)
|
rs779208941
|
0.00002
|
NM_000284.4(PDHA1):c.21C>T (p.Ala7=)
|
rs1367997023
|
0.00002
|
NM_000284.4(PDHA1):c.318C>T (p.Ala106=)
|
rs764516370
|
0.00002
|
NM_000284.4(PDHA1):c.663C>T (p.Ile221=)
|
rs929262350
|
0.00002
|
NM_000284.4(PDHA1):c.810T>G (p.Ala270=)
|
rs763733376
|
0.00002
|
NM_000284.4(PDHA1):c.983A>G (p.Asn328Ser)
|
rs758465753
|
0.00002
|
NM_000289.6(PFKM):c.1128-4A>G
|
rs570665595
|
0.00002
|
NM_000289.6(PFKM):c.1200G>A (p.Ser400=)
|
rs746775189
|
0.00002
|
NM_000289.6(PFKM):c.1308C>G (p.Val436=)
|
rs779395140
|
0.00002
|
NM_000289.6(PFKM):c.1464T>C (p.Phe488=)
|
rs374814413
|
0.00002
|
NM_000289.6(PFKM):c.1467C>T (p.Asn489=)
|
rs753681797
|
0.00002
|
NM_000289.6(PFKM):c.2097G>C (p.Arg699=)
|
rs776783895
|
0.00002
|
NM_000289.6(PFKM):c.2176C>T (p.Leu726=)
|
rs761487239
|
0.00002
|
NM_000289.6(PFKM):c.2337C>T (p.Ala779=)
|
rs748647298
|
0.00002
|
NM_000289.6(PFKM):c.471C>T (p.Asn157=)
|
rs1223915629
|
0.00002
|
NM_000289.6(PFKM):c.834C>T (p.Asp278=)
|
rs776432077
|
0.00002
|
NM_000289.6(PFKM):c.912G>A (p.Thr304=)
|
rs764516934
|
0.00002
|
NM_000290.4(PGAM2):c.252T>C (p.Thr84=)
|
rs755125202
|
0.00002
|
NM_000290.4(PGAM2):c.276C>T (p.Tyr92=)
|
rs201201589
|
0.00002
|
NM_000292.3(PHKA2):c.3282+14C>T
|
rs760202357
|
0.00002
|
NM_000293.3(PHKB):c.2544C>T (p.Val848=)
|
rs200981011
|
0.00002
|
NM_000293.3(PHKB):c.282C>T (p.Ala94=)
|
rs372209609
|
0.00002
|
NM_000293.3(PHKB):c.678A>G (p.Lys226=)
|
rs762504730
|
0.00002
|
NM_000294.3(PHKG2):c.1031G>A (p.Arg344Gln)
|
rs532137455
|
0.00002
|
NM_000294.3(PHKG2):c.153G>A (p.Ala51=)
|
rs368095671
|
0.00002
|
NM_000294.3(PHKG2):c.927+18A>G
|
rs369022609
|
0.00002
|
NM_000308.4(CTSA):c.1255-14T>C
|
rs760814659
|
0.00002
|
NM_000308.4(CTSA):c.444+18C>T
|
rs1258174043
|
0.00002
|
NM_000308.4(CTSA):c.55_57del (p.Leu19del)
|
rs544157818
|
0.00002
|
NM_000308.4(CTSA):c.987C>T (p.Pro329=)
|
rs761023765
|
0.00002
|
NM_000340.2(SLC2A2):c.162A>G (p.Lys54=)
|
rs546539032
|
0.00002
|
NM_000340.2(SLC2A2):c.371+19T>C
|
rs752870085
|
0.00002
|
NM_000343.4(SLC5A1):c.1725G>A (p.Ala575=)
|
rs368853644
|
0.00002
|
NM_000343.4(SLC5A1):c.478-20C>T
|
rs200103091
|
0.00002
|
NM_000404.4(GLB1):c.1068+7G>A
|
rs776131111
|
0.00002
|
NM_000404.4(GLB1):c.1077A>G (p.Lys359=)
|
rs751886625
|
0.00002
|
NM_000404.4(GLB1):c.1101A>G (p.Pro367=)
|
rs763663574
|
0.00002
|
NM_000404.4(GLB1):c.1647G>A (p.Pro549=)
|
rs772573490
|
0.00002
|
NM_000404.4(GLB1):c.2007C>T (p.Asn669=)
|
rs750202423
|
0.00002
|
NM_000404.4(GLB1):c.27C>T (p.Leu9=)
|
rs905194921
|
0.00002
|
NM_000404.4(GLB1):c.327G>T (p.Arg109=)
|
rs751602590
|
0.00002
|
NM_000404.4(GLB1):c.496C>T (p.Leu166=)
|
rs747305905
|
0.00002
|
NM_000404.4(GLB1):c.553-17T>C
|
rs1194605833
|
0.00002
|
NM_000404.4(GLB1):c.780C>G (p.Pro260=)
|
rs763307375
|
0.00002
|
NM_000404.4(GLB1):c.793-9T>A
|
rs765504729
|
0.00002
|
NM_000404.4(GLB1):c.858C>T (p.Thr286=)
|
rs770638519
|
0.00002
|
NM_000404.4(GLB1):c.993C>T (p.Tyr331=)
|
rs752884772
|
0.00002
|
NM_000507.4(FBP1):c.825+14C>G
|
rs772828820
|
0.00002
|
NM_000507.4(FBP1):c.840C>T (p.Tyr280=)
|
rs377759037
|
0.00002
|
NM_000512.5(GALNS):c.1005G>C (p.Val335=)
|
rs772871566
|
0.00002
|
NM_000512.5(GALNS):c.102G>A (p.Leu34=)
|
rs748866414
|
0.00002
|
NM_000512.5(GALNS):c.1059G>A (p.Ala353=)
|
rs768334388
|
0.00002
|
NM_000512.5(GALNS):c.1242+17G>A
|
rs1159726808
|
0.00002
|
NM_000512.5(GALNS):c.1476G>A (p.Ala492=)
|
rs371056948
|
0.00002
|
NM_000512.5(GALNS):c.256C>T (p.Leu86=)
|
rs190707335
|
0.00002
|
NM_000512.5(GALNS):c.327A>C (p.Thr109=)
|
rs759916392
|
0.00002
|
NM_000512.5(GALNS):c.453C>A (p.Pro151=)
|
rs752021223
|
0.00002
|
NM_000512.5(GALNS):c.522C>G (p.Ala174=)
|
rs891821999
|
0.00002
|
NM_000512.5(GALNS):c.628C>T (p.Leu210=)
|
rs780787351
|
0.00002
|
NM_000512.5(GALNS):c.663A>T (p.Ala221=)
|
rs749077864
|
0.00002
|
NM_000528.4(MAN2B1):c.1109+10G>A
|
rs779635675
|
0.00002
|
NM_000528.4(MAN2B1):c.1125C>T (p.Asp375=)
|
rs146715588
|
0.00002
|
NM_000528.4(MAN2B1):c.1518G>A (p.Thr506=)
|
rs754672974
|
0.00002
|
NM_000528.4(MAN2B1):c.1587G>T (p.Pro529=)
|
rs771761940
|
0.00002
|
NM_000528.4(MAN2B1):c.159+9G>A
|
rs764391534
|
0.00002
|
NM_000528.4(MAN2B1):c.1980C>T (p.Tyr660=)
|
rs564693678
|
0.00002
|
NM_000528.4(MAN2B1):c.2166C>T (p.Gly722=)
|
rs770976179
|
0.00002
|
NM_000528.4(MAN2B1):c.2267+9T>C
|
rs750833439
|
0.00002
|
NM_000528.4(MAN2B1):c.2304G>A (p.Thr768=)
|
rs749978005
|
0.00002
|
NM_000528.4(MAN2B1):c.2349C>T (p.Tyr783=)
|
rs948101708
|
0.00002
|
NM_000528.4(MAN2B1):c.2424G>A (p.Ser808=)
|
rs762947868
|
0.00002
|
NM_000528.4(MAN2B1):c.2436+8G>T
|
rs1375276402
|
0.00002
|
NM_000528.4(MAN2B1):c.2469C>T (p.Arg823=)
|
rs561895292
|
0.00002
|
NM_000528.4(MAN2B1):c.2485C>T (p.Leu829=)
|
rs1406149211
|
0.00002
|
NM_000528.4(MAN2B1):c.2655G>A (p.Pro885=)
|
rs1046211352
|
0.00002
|
NM_000528.4(MAN2B1):c.2821-5C>T
|
rs761870446
|
0.00002
|
NM_000528.4(MAN2B1):c.2923+9C>T
|
rs771288611
|
0.00002
|
NM_000528.4(MAN2B1):c.437-6G>A
|
rs1471583306
|
0.00002
|
NM_000528.4(MAN2B1):c.763+9C>T
|
rs1266555392
|
0.00002
|
NM_000528.4(MAN2B1):c.876G>A (p.Leu292=)
|
rs768458196
|
0.00002
|
NM_000528.4(MAN2B1):c.910-20G>A
|
rs376680335
|
0.00002
|
NM_000528.4(MAN2B1):c.933C>T (p.His311=)
|
rs760393236
|
0.00002
|
NM_000642.3(AGL):c.1002G>A (p.Thr334=)
|
rs369218410
|
0.00002
|
NM_000642.3(AGL):c.1047T>C (p.Asp349=)
|
rs1446805356
|
0.00002
|
NM_000642.3(AGL):c.1083-6C>T
|
rs761394139
|
0.00002
|
NM_000642.3(AGL):c.1260T>C (p.Thr420=)
|
rs755271123
|
0.00002
|
NM_000642.3(AGL):c.1284-20A>G
|
rs368724960
|
0.00002
|
NM_000642.3(AGL):c.1458C>T (p.Cys486=)
|
rs143287982
|
0.00002
|
NM_000642.3(AGL):c.1482C>T (p.Arg494=)
|
rs781451112
|
0.00002
|
NM_000642.3(AGL):c.1900-6T>C
|
rs749096703
|
0.00002
|
NM_000642.3(AGL):c.1911G>A (p.Ala637=)
|
rs778511499
|
0.00002
|
NM_000642.3(AGL):c.2241T>C (p.Ser747=)
|
rs754816668
|
0.00002
|
NM_000642.3(AGL):c.2259T>C (p.Asn753=)
|
rs752434259
|
0.00002
|
NM_000642.3(AGL):c.2271A>T (p.Ser757=)
|
rs756362070
|
0.00002
|
NM_000642.3(AGL):c.2682-7T>C
|
rs375256646
|
0.00002
|
NM_000642.3(AGL):c.2950-9T>C
|
rs1056703468
|
0.00002
|
NM_000642.3(AGL):c.3126G>A (p.Leu1042=)
|
rs778226959
|
0.00002
|
NM_000642.3(AGL):c.3362+9G>A
|
rs747485058
|
0.00002
|
NM_000642.3(AGL):c.4104T>G (p.Ala1368=)
|
rs775129071
|
0.00002
|
NM_000642.3(AGL):c.4389A>G (p.Leu1463=)
|
rs148555004
|
0.00002
|
NM_000642.3(AGL):c.4419T>C (p.Thr1473=)
|
rs1188610735
|
0.00002
|
NM_000642.3(AGL):c.4539C>T (p.Phe1513=)
|
rs752519483
|
0.00002
|
NM_000642.3(AGL):c.665-9T>C
|
rs373354556
|
0.00002
|
NM_000642.3(AGL):c.675T>C (p.Ser225=)
|
rs145391010
|
0.00002
|
NM_000642.3(AGL):c.753C>T (p.Asp251=)
|
rs772247348
|
0.00002
|
NM_000642.3(AGL):c.75T>G (p.Leu25=)
|
rs753243528
|
0.00002
|
NM_000642.3(AGL):c.82+18T>C
|
rs777480976
|
0.00002
|
NM_000642.3(AGL):c.93A>G (p.Leu31=)
|
rs757542271
|
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_000891.3(KCNJ2):c.1002G>A (p.Lys334=)
|
rs372264881
|
0.00002
|
NM_000891.3(KCNJ2):c.282G>A (p.Leu94=)
|
rs776798798
|
0.00002
|
NM_000891.3(KCNJ2):c.411T>C (p.Ile137=)
|
rs775567368
|
0.00002
|
NM_000891.3(KCNJ2):c.858C>T (p.Asp286=)
|
rs142750807
|
0.00002
|
NM_000891.3(KCNJ2):c.882C>T (p.Ile294=)
|
rs751279819
|
0.00002
|
NM_000925.4(PDHB):c.1002T>C (p.Tyr334=)
|
rs755616546
|
0.00002
|
NM_000925.4(PDHB):c.1014A>G (p.Leu338=)
|
rs1462611352
|
0.00002
|
NM_000925.4(PDHB):c.267+10C>A
|
rs781736851
|
0.00002
|
NM_000925.4(PDHB):c.304-4dup
|
rs1285910313
|
0.00002
|
NM_000925.4(PDHB):c.327A>G (p.Glu109=)
|
rs370951271
|
0.00002
|
NM_000925.4(PDHB):c.33C>G (p.Pro11=)
|
rs771813233
|
0.00002
|
NM_000925.4(PDHB):c.36T>C (p.Leu12=)
|
rs981644233
|
0.00002
|
NM_000925.4(PDHB):c.390C>T (p.Thr130=)
|
rs192604927
|
0.00002
|
NM_000925.4(PDHB):c.48C>T (p.Ser16=)
|
rs375651141
|
0.00002
|
NM_000925.4(PDHB):c.52C>T (p.Leu18=)
|
rs534688111
|
0.00002
|
NM_001008216.2(GALE):c.291G>A (p.Ser97=)
|
rs774474579
|
0.00002
|
NM_001008216.2(GALE):c.352-7C>T
|
rs762919578
|
0.00002
|
NM_001014436.3(DBNL):c.*3905G>A
|
rs760737158
|
0.00002
|
NM_001040716.2(PC):c.1185+14G>A
|
rs375290516
|
0.00002
|
NM_001040716.2(PC):c.1353C>T (p.Arg451=)
|
rs542353629
|
0.00002
|
NM_001040716.2(PC):c.1377C>T (p.Ile459=)
|
rs201776268
|
0.00002
|
NM_001040716.2(PC):c.1425T>C (p.Thr475=)
|
rs781599048
|
0.00002
|
NM_001040716.2(PC):c.1514-13G>A
|
rs773976056
|
0.00002
|
NM_001040716.2(PC):c.1650T>C (p.Pro550=)
|
rs1164560956
|
0.00002
|
NM_001040716.2(PC):c.1664G>A (p.Arg555Gln)
|
rs148613404
|
0.00002
|
NM_001040716.2(PC):c.1690C>T (p.Leu564=)
|
rs1233418840
|
0.00002
|
NM_001040716.2(PC):c.171G>A (p.Thr57=)
|
rs373105398
|
0.00002
|
NM_001040716.2(PC):c.1755C>T (p.His585=)
|
rs760538194
|
0.00002
|
NM_001040716.2(PC):c.1866C>T (p.Cys622=)
|
rs1945519559
|
0.00002
|
NM_001040716.2(PC):c.1899C>A (p.Leu633=)
|
rs780830234
|
0.00002
|
NM_001040716.2(PC):c.189C>T (p.Thr63=)
|
rs762631892
|
0.00002
|
NM_001040716.2(PC):c.1935G>A (p.Gly645=)
|
rs750469404
|
0.00002
|
NM_001040716.2(PC):c.1944T>C (p.Ala648=)
|
rs774759089
|
0.00002
|
NM_001040716.2(PC):c.1962C>T (p.Tyr654=)
|
rs763471198
|
0.00002
|
NM_001040716.2(PC):c.2127C>T (p.Asp709=)
|
rs768324552
|
0.00002
|
NM_001040716.2(PC):c.2154C>T (p.Tyr718=)
|
rs1293856380
|
0.00002
|
NM_001040716.2(PC):c.2211C>T (p.Ile737=)
|
rs762599900
|
0.00002
|
NM_001040716.2(PC):c.228C>T (p.His76=)
|
rs774618137
|
0.00002
|
NM_001040716.2(PC):c.24T>C (p.His8=)
|
rs765578958
|
0.00002
|
NM_001040716.2(PC):c.3012G>A (p.Pro1004=)
|
rs112030121
|
0.00002
|
NM_001040716.2(PC):c.3033T>C (p.Ala1011=)
|
rs139740019
|
0.00002
|
NM_001040716.2(PC):c.3213C>T (p.Ala1071=)
|
rs774982916
|
0.00002
|
NM_001040716.2(PC):c.3327G>A (p.Lys1109=)
|
rs202085529
|
0.00002
|
NM_001040716.2(PC):c.3409C>G (p.Leu1137Val)
|
rs777927070
|
0.00002
|
NM_001040716.2(PC):c.543C>T (p.His181=)
|
rs139717038
|
0.00002
|
NM_001040716.2(PC):c.634-10G>A
|
rs751946688
|
0.00002
|
NM_001040716.2(PC):c.783C>T (p.Tyr261=)
|
rs144330590
|
0.00002
|
NM_001040716.2(PC):c.837C>T (p.Pro279=)
|
rs369972881
|
0.00002
|
NM_001040716.2(PC):c.855G>A (p.Pro285=)
|
rs200478006
|
0.00002
|
NM_001040716.2(PC):c.87C>A (p.Val29=)
|
rs777754654
|
0.00002
|
NM_001040716.2(PC):c.903+19G>A
|
rs201507432
|
0.00002
|
NM_001040716.2(PC):c.969C>T (p.Ile323=)
|
rs752996978
|
0.00002
|
NM_001164277.2(SLC37A4):c.1008T>G (p.Ala336=)
|
rs782726848
|
0.00002
|
NM_001164277.2(SLC37A4):c.1098C>T (p.His366=)
|
rs782587864
|
0.00002
|
NM_001164277.2(SLC37A4):c.1124+18G>C
|
rs1555190434
|
0.00002
|
NM_001164277.2(SLC37A4):c.149-7C>T
|
rs1316874319
|
0.00002
|
NM_001164277.2(SLC37A4):c.382-10T>C
|
rs914753772
|
0.00002
|
NM_001164277.2(SLC37A4):c.382-4A>C
|
rs923058912
|
0.00002
|
NM_001164277.2(SLC37A4):c.462C>A (p.Ile154=)
|
rs1309434778
|
0.00002
|
NM_001164277.2(SLC37A4):c.558C>T (p.Leu186=)
|
rs745721191
|
0.00002
|
NM_001164277.2(SLC37A4):c.785+12A>G
|
rs976964945
|
0.00002
|
NM_001243177.4(ALDOA):c.498C>T (p.Gly166=)
|
rs145811469
|
0.00002
|
NM_001243177.4(ALDOA):c.597C>T (p.Phe199=)
|
rs769378422
|
0.00002
|
NM_001352514.2(HLCS):c.1290C>T (p.Ser430=)
|
rs1472760580
|
0.00002
|
NM_001352514.2(HLCS):c.1341C>T (p.Pro447=)
|
rs543680851
|
0.00002
|
NM_001352514.2(HLCS):c.1548A>G (p.Thr516=)
|
rs144016759
|
0.00002
|
NM_001352514.2(HLCS):c.1875G>A (p.Thr625=)
|
rs776800808
|
0.00002
|
NM_001352514.2(HLCS):c.2130C>T (p.Asn710=)
|
rs748819971
|
0.00002
|
NM_001352514.2(HLCS):c.2237-12G>C
|
rs1487390204
|
0.00002
|
NM_001352514.2(HLCS):c.2340C>T (p.Ala780=)
|
rs760265551
|
0.00002
|
NM_001352514.2(HLCS):c.2349C>T (p.Leu783=)
|
rs138952612
|
0.00002
|
NM_001352514.2(HLCS):c.477A>C (p.Val159=)
|
rs779019472
|
0.00002
|
NM_001352514.2(HLCS):c.519G>C (p.Leu173=)
|
rs142669894
|
0.00002
|
NM_001360016.2(G6PD):c.1017C>T (p.Ala339=)
|
rs1440647556
|
0.00002
|
NM_001360016.2(G6PD):c.1113G>A (p.Leu371=)
|
rs1166552162
|
0.00002
|
NM_001360016.2(G6PD):c.1164C>T (p.Asn388=)
|
rs782623392
|
0.00002
|
NM_001360016.2(G6PD):c.1287+19G>A
|
rs781980305
|
0.00002
|
NM_001360016.2(G6PD):c.1338C>T (p.Cys446=)
|
rs1557229582
|
0.00002
|
NM_001360016.2(G6PD):c.1368C>T (p.Asp456=)
|
rs782170250
|
0.00002
|
NM_001360016.2(G6PD):c.1437C>T (p.Pro479=)
|
rs781829860
|
0.00002
|
NM_001360016.2(G6PD):c.1443C>T (p.Pro481=)
|
rs377659103
|
0.00002
|
NM_001360016.2(G6PD):c.1452T>C (p.Tyr484=)
|
rs782797399
|
0.00002
|
NM_001360016.2(G6PD):c.1457+19C>T
|
rs1557229460
|
0.00002
|
NM_001360016.2(G6PD):c.1470G>A (p.Thr490=)
|
rs782206043
|
0.00002
|
NM_001360016.2(G6PD):c.186C>T (p.Pro62=)
|
rs781875587
|
0.00002
|
NM_001360016.2(G6PD):c.264C>G (p.Phe88Leu)
|
rs781794862
|
0.00002
|
NM_001360016.2(G6PD):c.336C>T (p.Tyr112=)
|
rs1307320948
|
0.00002
|
NM_001360016.2(G6PD):c.441C>T (p.Tyr147=)
|
rs375189502
|
0.00002
|
NM_001360016.2(G6PD):c.564C>T (p.Ser188=)
|
rs200626353
|
0.00002
|
NM_001360016.2(G6PD):c.597C>T (p.Ile199=)
|
rs369516039
|
0.00002
|
NM_001360016.2(G6PD):c.708C>T (p.Thr236=)
|
rs782118135
|
0.00002
|
NM_001360016.2(G6PD):c.750C>T (p.Phe250=)
|
rs140496395
|
0.00002
|
NM_001360016.2(G6PD):c.771-11T>C
|
rs782622284
|
0.00002
|
NM_001370658.1(BTD):c.-17+11G>A
|
rs563797222
|
0.00002
|
NM_001370658.1(BTD):c.1311G>A (p.Val437=)
|
rs753880468
|
0.00002
|
NM_001370658.1(BTD):c.1425C>A (p.Ile475=)
|
rs780182371
|
0.00002
|
NM_001370658.1(BTD):c.183G>A (p.Glu61=)
|
rs753816877
|
0.00002
|
NM_001370658.1(BTD):c.288T>C (p.His96=)
|
rs1261536776
|
0.00002
|
NM_001370658.1(BTD):c.534C>T (p.Val178=)
|
rs757159632
|
0.00002
|
NM_001370658.1(BTD):c.723C>T (p.Tyr241=)
|
rs372687866
|
0.00002
|
NM_001370658.1(BTD):c.741G>A (p.Val247=)
|
rs552436982
|
0.00002
|
NM_001370658.1(BTD):c.852A>G (p.Pro284=)
|
rs778024234
|
0.00002
|
NM_001370658.1(BTD):c.972C>T (p.Leu324=)
|
rs117806438
|
0.00002
|
NM_001739.2(CA5A):c.340+16G>A
|
rs1278259154
|
0.00002
|
NM_001739.2(CA5A):c.340+7G>A
|
rs1319117167
|
0.00002
|
NM_001739.2(CA5A):c.444C>T (p.His148=)
|
rs575569678
|
0.00002
|
NM_001739.2(CA5A):c.849A>G (p.Pro283=)
|
rs764416139
|
0.00002
|
NM_001931.5(DLAT):c.1198-16T>C
|
rs377389152
|
0.00002
|
NM_001931.5(DLAT):c.381+9T>G
|
rs1363476657
|
0.00002
|
NM_001931.5(DLAT):c.402T>C (p.Thr134=)
|
rs886047693
|
0.00002
|
NM_002076.4(GNS):c.1189T>C (p.Leu397=)
|
rs773031063
|
0.00002
|
NM_002076.4(GNS):c.1200+7A>G
|
rs776624874
|
0.00002
|
NM_002076.4(GNS):c.1317C>T (p.Phe439=)
|
rs780470761
|
0.00002
|
NM_002076.4(GNS):c.1506G>A (p.Lys502=)
|
rs748361347
|
0.00002
|
NM_002076.4(GNS):c.306G>A (p.Lys102=)
|
rs746164753
|
0.00002
|
NM_002076.4(GNS):c.526-7T>C
|
rs1179720847
|
0.00002
|
NM_002076.4(GNS):c.687C>T (p.Ile229=)
|
rs767396748
|
0.00002
|
NM_002076.4(GNS):c.995-15G>A
|
rs200521875
|
0.00002
|
NM_002076.4(GNS):c.9C>T (p.Leu3=)
|
rs1479493439
|
0.00002
|
NM_002103.5(GYS1):c.1122T>C (p.Asn374=)
|
rs1300778334
|
0.00002
|
NM_002103.5(GYS1):c.1258C>T (p.Leu420=)
|
rs761332247
|
0.00002
|
NM_002103.5(GYS1):c.1549+10G>A
|
rs1249320184
|
0.00002
|
NM_002103.5(GYS1):c.1779C>T (p.Ser593=)
|
rs372542706
|
0.00002
|
NM_002103.5(GYS1):c.1809+18C>A
|
rs752499733
|
0.00002
|
NM_002103.5(GYS1):c.1810-18del
|
rs746072387
|
0.00002
|
NM_002103.5(GYS1):c.1810-9T>C
|
rs758217607
|
0.00002
|
NM_002103.5(GYS1):c.309C>T (p.Phe103=)
|
rs1390208595
|
0.00002
|
NM_002103.5(GYS1):c.492+8C>A
|
rs751502676
|
0.00002
|
NM_002103.5(GYS1):c.678+13C>T
|
rs751882736
|
0.00002
|
NM_002294.3(LAMP2):c.1094-10C>T
|
rs1278507301
|
0.00002
|
NM_002294.3(LAMP2):c.1116C>T (p.Asp372=)
|
rs749338632
|
0.00002
|
NM_002294.3(LAMP2):c.184-19A>G
|
rs1255756648
|
0.00002
|
NM_002294.3(LAMP2):c.232A>G (p.Ile78Val)
|
rs748676358
|
0.00002
|
NM_002294.3(LAMP2):c.453T>C (p.Phe151=)
|
rs200348335
|
0.00002
|
NM_002294.3(LAMP2):c.778C>T (p.His260Tyr)
|
rs778577575
|
0.00002
|
NM_002294.3(LAMP2):c.929-9T>C
|
rs978513368
|
0.00002
|
NM_002294.3(LAMP2):c.960C>T (p.Tyr320=)
|
rs371959861
|
0.00002
|
NM_002637.4(PHKA1):c.1311T>C (p.Asp437=)
|
rs782496296
|
0.00002
|
NM_002637.4(PHKA1):c.1383C>T (p.Tyr461=)
|
rs1057522310
|
0.00002
|
NM_002637.4(PHKA1):c.1428T>A (p.Ala476=)
|
rs1259412573
|
0.00002
|
NM_002637.4(PHKA1):c.2137+12C>T
|
rs782222298
|
0.00002
|
NM_002637.4(PHKA1):c.2607-5C>T
|
rs375770238
|
0.00002
|
NM_002637.4(PHKA1):c.3288C>T (p.Thr1096=)
|
rs782626114
|
0.00002
|
NM_002637.4(PHKA1):c.478G>A (p.Asp160Asn)
|
rs201601894
|
0.00002
|
NM_002863.5(PYGL):c.2358T>C (p.Asp786=)
|
rs765783288
|
0.00002
|
NM_003384.3(VRK1):c.1065A>C (p.Thr355=)
|
rs765863043
|
0.00002
|
NM_003384.3(VRK1):c.1164A>C (p.Ser388=)
|
rs760801260
|
0.00002
|
NM_003384.3(VRK1):c.327T>G (p.Gly109=)
|
rs560242666
|
0.00002
|
NM_003384.3(VRK1):c.39C>T (p.Ser13=)
|
rs759767615
|
0.00002
|
NM_003384.3(VRK1):c.462C>T (p.Val154=)
|
rs757654085
|
0.00002
|
NM_004130.4(GYG1):c.249G>A (p.Thr83=)
|
rs772195768
|
0.00002
|
NM_004130.4(GYG1):c.918G>A (p.Gly306=)
|
rs373972032
|
0.00002
|
NM_005271.5(GLUD1):c.330G>A (p.Lys110=)
|
rs199752396
|
0.00002
|
NM_005271.5(GLUD1):c.432G>T (p.Thr144=)
|
rs1423075857
|
0.00002
|
NM_005271.5(GLUD1):c.526+11G>A
|
rs757850230
|
0.00002
|
NM_005271.5(GLUD1):c.527-4T>G
|
rs779153065
|
0.00002
|
NM_005327.7(HADH):c.261+17G>A
|
rs185657456
|
0.00002
|
NM_005327.7(HADH):c.827-9G>A
|
rs1363052334
|
0.00002
|
NM_005566.4(LDHA):c.249T>C (p.Tyr83=)
|
rs199653952
|
0.00002
|
NM_005566.4(LDHA):c.39A>C (p.Leu13=)
|
rs371221146
|
0.00002
|
NM_005609.4(PYGM):c.1093-5G>A
|
rs745663647
|
0.00002
|
NM_005609.4(PYGM):c.1194G>A (p.Pro398=)
|
rs771508536
|
0.00002
|
NM_005609.4(PYGM):c.1239+8C>T
|
rs886048461
|
0.00002
|
NM_005609.4(PYGM):c.1519-7C>T
|
rs775468145
|
0.00002
|
NM_005609.4(PYGM):c.1869C>T (p.Leu623=)
|
rs144764922
|
0.00002
|
NM_005609.4(PYGM):c.1881C>T (p.Ile627=)
|
rs369361532
|
0.00002
|
NM_005609.4(PYGM):c.1941G>A (p.Glu647=)
|
rs754483073
|
0.00002
|
NM_005609.4(PYGM):c.2010G>A (p.Ala670=)
|
rs774235610
|
0.00002
|
NM_005609.4(PYGM):c.2055C>T (p.Asn685=)
|
rs755381729
|
0.00002
|
NM_005609.4(PYGM):c.2067C>G (p.Thr689=)
|
rs1021120134
|
0.00002
|
NM_005609.4(PYGM):c.2312+16C>T
|
rs184694130
|
0.00002
|
NM_005609.4(PYGM):c.2463T>C (p.Tyr821=)
|
rs1236553650
|
0.00002
|
NM_005609.4(PYGM):c.31A>C (p.Arg11=)
|
rs776312721
|
0.00002
|
NM_005609.4(PYGM):c.345+8T>G
|
rs766800006
|
0.00002
|
NM_005609.4(PYGM):c.346-9C>T
|
rs368998655
|
0.00002
|
NM_005609.4(PYGM):c.402C>T (p.Asn134=)
|
rs372262267
|
0.00002
|
NM_005609.4(PYGM):c.468T>C (p.Tyr156=)
|
rs139815072
|
0.00002
|
NM_005609.4(PYGM):c.474C>T (p.Tyr158=)
|
rs766020669
|
0.00002
|
NM_005609.4(PYGM):c.585C>T (p.Pro195=)
|
rs1469910376
|
0.00002
|
NM_005609.4(PYGM):c.594G>A (p.Thr198=)
|
rs1386180219
|
0.00002
|
NM_005609.4(PYGM):c.615C>A (p.Gly205=)
|
rs781010056
|
0.00002
|
NM_005609.4(PYGM):c.661-10C>T
|
rs759810824
|
0.00002
|
NM_005609.4(PYGM):c.81G>A (p.Glu27=)
|
rs758383567
|
0.00002
|
NM_005609.4(PYGM):c.999+10G>A
|
rs199638571
|
0.00002
|
NM_005908.4(MANBA):c.123C>A (p.Pro41=)
|
rs769798393
|
0.00002
|
NM_005908.4(MANBA):c.1317+14C>A
|
rs200935345
|
0.00002
|
NM_005908.4(MANBA):c.2019C>T (p.Tyr673=)
|
rs759861033
|
0.00002
|
NM_005908.4(MANBA):c.2416-9del
|
rs1345228065
|
0.00002
|
NM_005908.4(MANBA):c.552G>A (p.Glu184=)
|
rs1393310114
|
0.00002
|
NM_005908.4(MANBA):c.708G>A (p.Glu236=)
|
rs769969734
|
0.00002
|
NM_006859.4(LIAS):c.234A>G (p.Pro78=)
|
rs766730917
|
0.00002
|
NM_006859.4(LIAS):c.46-16T>C
|
rs752442762
|
0.00002
|
NM_006859.4(LIAS):c.737+11G>A
|
rs760672937
|
0.00002
|
NM_012434.5(SLC17A5):c.1018T>C (p.Leu340=)
|
rs1353171390
|
0.00002
|
NM_012434.5(SLC17A5):c.1351-8C>T
|
rs770108730
|
0.00002
|
NM_012434.5(SLC17A5):c.1487G>A (p.Ter496=)
|
rs1041214397
|
0.00002
|
NM_012434.5(SLC17A5):c.21C>T (p.Asp7=)
|
rs368359854
|
0.00002
|
NM_012434.5(SLC17A5):c.291+8C>A
|
rs766856558
|
0.00002
|
NM_012434.5(SLC17A5):c.292-4G>A
|
rs370580788
|
0.00002
|
NM_012434.5(SLC17A5):c.39C>A (p.Gly13=)
|
rs150836846
|
0.00002
|
NM_012434.5(SLC17A5):c.510A>C (p.Leu170=)
|
rs971021026
|
0.00002
|
NM_016042.4(EXOSC3):c.324+15C>T
|
rs775818894
|
0.00002
|
NM_016042.4(EXOSC3):c.783G>A (p.Thr261=)
|
rs376325566
|
0.00002
|
NM_016203.4(PRKAG2):c.1005+13A>G
|
rs770683071
|
0.00002
|
NM_016203.4(PRKAG2):c.1107-7C>T
|
rs775881497
|
0.00002
|
NM_016203.4(PRKAG2):c.129C>T (p.Phe43=)
|
rs770946241
|
0.00002
|
NM_016203.4(PRKAG2):c.137C>A (p.Pro46Gln)
|
rs373477232
|
0.00002
|
NM_016203.4(PRKAG2):c.138G>A (p.Pro46=)
|
rs767613486
|
0.00002
|
NM_016203.4(PRKAG2):c.1437+7A>G
|
rs1489894918
|
0.00002
|
NM_016203.4(PRKAG2):c.201C>T (p.Phe67=)
|
rs759893229
|
0.00002
|
NM_016203.4(PRKAG2):c.356G>A (p.Arg119Gln)
|
rs142808871
|
0.00002
|
NM_016203.4(PRKAG2):c.432C>T (p.Pro144=)
|
rs764742900
|
0.00002
|
NM_016203.4(PRKAG2):c.433G>A (p.Gly145Arg)
|
rs886062101
|
0.00002
|
NM_016203.4(PRKAG2):c.454C>T (p.Arg152Cys)
|
rs752783859
|
0.00002
|
NM_016203.4(PRKAG2):c.618G>A (p.Pro206=)
|
rs145827515
|
0.00002
|
NM_016203.4(PRKAG2):c.635C>T (p.Pro212Leu)
|
rs749753053
|
0.00002
|
NM_016203.4(PRKAG2):c.642G>C (p.Arg214Ser)
|
rs757556996
|
0.00002
|
NM_016203.4(PRKAG2):c.685-5C>A
|
rs779931367
|
0.00002
|
NM_016203.4(PRKAG2):c.754+15C>T
|
rs760796110
|
0.00002
|
NM_016219.5(MAN1B1):c.1255-13C>T
|
rs765403325
|
0.00002
|
NM_016219.5(MAN1B1):c.657C>T (p.Thr219=)
|
rs564784943
|
0.00002
|
NM_016219.5(MAN1B1):c.699C>T (p.Pro233=)
|
rs764332216
|
0.00002
|
NM_016219.5(MAN1B1):c.756C>T (p.Gly252=)
|
rs752442068
|
0.00002
|
NM_016219.5(MAN1B1):c.975C>T (p.Asp325=)
|
rs202157161
|
0.00002
|
NM_024989.4(PGAP1):c.1729-4C>T
|
rs375994131
|
0.00002
|
NM_024989.4(PGAP1):c.876G>A (p.Gln292=)
|
rs1702308428
|
0.00002
|
NM_031229.4(RBCK1):c.1398C>T (p.Thr466=)
|
rs532857178
|
0.00002
|
NM_031229.4(RBCK1):c.1446C>T (p.Gly482=)
|
rs749891698
|
0.00002
|
NM_031229.4(RBCK1):c.180C>T (p.Ser60=)
|
rs757115540
|
0.00002
|
NM_031229.4(RBCK1):c.576C>T (p.Pro192=)
|
rs976327623
|
0.00002
|
NM_031229.4(RBCK1):c.663C>G (p.Pro221=)
|
rs750427179
|
0.00002
|
NM_031229.4(RBCK1):c.757-10G>T
|
rs1472775469
|
0.00002
|
NM_031229.4(RBCK1):c.757-16C>A
|
rs1203285203
|
0.00002
|
NM_031229.4(RBCK1):c.917+15C>T
|
rs963667842
|
0.00002
|
NM_031229.4(RBCK1):c.993G>A (p.Ser331=)
|
rs750664557
|
0.00002
|
NM_033159.4(HYAL1):c.1209C>T (p.Ala403=)
|
rs1553712428
|
0.00002
|
NM_033159.4(HYAL1):c.171T>C (p.Asp57=)
|
rs587709776
|
0.00002
|
NM_033159.4(HYAL1):c.219T>C (p.Ile73=)
|
rs782696394
|
0.00002
|
NM_033159.4(HYAL1):c.231C>T (p.Ser77=)
|
rs781826964
|
0.00002
|
NM_033159.4(HYAL1):c.276G>A (p.Val92=)
|
rs373545891
|
0.00002
|
NM_033159.4(HYAL1):c.408C>A (p.Arg136=)
|
rs782343934
|
0.00002
|
NM_033159.4(HYAL1):c.570G>A (p.Gly190=)
|
rs782343493
|
0.00002
|
NM_033159.4(HYAL1):c.615T>C (p.Pro205=)
|
rs782722149
|
0.00002
|
NM_033159.4(HYAL1):c.747C>T (p.Pro249=)
|
rs139187462
|
0.00002
|
NM_033159.4(HYAL1):c.915C>T (p.His305=)
|
rs1290078379
|
0.00002
|
NM_033159.4(HYAL1):c.987C>G (p.Thr329=)
|
rs368220900
|
0.00002
|
NM_053013.4(ENO3):c.555C>T (p.Gly185=)
|
rs757606682
|
0.00002
|
NM_152419.3(HGSNAT):c.1023C>T (p.Asp341=)
|
rs772729729
|
0.00002
|
NM_152419.3(HGSNAT):c.1377+14G>A
|
rs781546106
|
0.00002
|
NM_152419.3(HGSNAT):c.1377+19C>T
|
rs753305419
|
0.00002
|
NM_152419.3(HGSNAT):c.1614-10C>T
|
rs755029430
|
0.00002
|
NM_152419.3(HGSNAT):c.168A>G (p.Leu56=)
|
rs769399813
|
0.00002
|
NM_152419.3(HGSNAT):c.1836C>T (p.Asn612=)
|
rs367648422
|
0.00002
|
NM_152419.3(HGSNAT):c.1842C>T (p.Val614=)
|
rs374563604
|
0.00002
|
NM_152419.3(HGSNAT):c.282G>A (p.Gly94=)
|
rs751419441
|
0.00002
|
NM_152419.3(HGSNAT):c.371+15T>A
|
rs372920077
|
0.00002
|
NM_152419.3(HGSNAT):c.690G>A (p.Thr230=)
|
rs1303093971
|
0.00002
|
NM_152419.3(HGSNAT):c.90G>T (p.Gly30=)
|
rs1187482453
|
0.00002
|
NM_152419.3(HGSNAT):c.945A>G (p.Ala315=)
|
rs371569367
|
0.00002
|
NM_198586.3(NHLRC1):c.111G>A (p.Gln37=)
|
rs143893542
|
0.00002
|
NM_198586.3(NHLRC1):c.579C>T (p.Ala193=)
|
rs202217857
|
0.00002
|
NM_000027.4(AGA):c.128-14G>A
|
rs769452319
|
0.00001
|
NM_000027.4(AGA):c.153C>T (p.Gly51=)
|
rs1404115808
|
0.00001
|
NM_000027.4(AGA):c.160C>T (p.Leu54=)
|
rs992715539
|
0.00001
|
NM_000027.4(AGA):c.177C>T (p.Ser59=)
|
rs757480668
|
0.00001
|
NM_000027.4(AGA):c.204G>A (p.Gln68=)
|
rs373209495
|
0.00001
|
NM_000027.4(AGA):c.219A>G (p.Val73=)
|
rs999695070
|
0.00001
|
NM_000027.4(AGA):c.281+18G>A
|
rs376346895
|
0.00001
|
NM_000027.4(AGA):c.394+10T>G
|
rs781210455
|
0.00001
|
NM_000027.4(AGA):c.395-4C>T
|
rs530298258
|
0.00001
|
NM_000027.4(AGA):c.402A>G (p.Thr134=)
|
rs770449168
|
0.00001
|
NM_000027.4(AGA):c.507+8C>T
|
rs1371366618
|
0.00001
|
NM_000027.4(AGA):c.600T>C (p.Asp200=)
|
rs777128985
|
0.00001
|
NM_000027.4(AGA):c.636C>T (p.Ile212=)
|
rs1384548395
|
0.00001
|
NM_000027.4(AGA):c.657T>C (p.Ala219=)
|
rs886059261
|
0.00001
|
NM_000027.4(AGA):c.699-5C>T
|
rs1324665450
|
0.00001
|
NM_000027.4(AGA):c.705A>G (p.Val235=)
|
rs150175428
|
0.00001
|
NM_000027.4(AGA):c.807-15C>T
|
rs746561546
|
0.00001
|
NM_000027.4(AGA):c.837A>C (p.Gly279=)
|
rs368840965
|
0.00001
|
NM_000027.4(AGA):c.894A>G (p.Pro298=)
|
rs760082787
|
0.00001
|
NM_000027.4(AGA):c.90C>T (p.Val30=)
|
rs371130120
|
0.00001
|
NM_000027.4(AGA):c.918T>C (p.Cys306=)
|
rs749698472
|
0.00001
|
NM_000027.4(AGA):c.93C>T (p.Val31=)
|
rs922841572
|
0.00001
|
NM_000027.4(AGA):c.941-8G>T
|
rs1458091976
|
0.00001
|
NM_000027.4(AGA):c.999C>T (p.Ser333=)
|
rs1479579564
|
0.00001
|
NM_000035.4(ALDOB):c.1014G>A (p.Ala338=)
|
rs546735701
|
0.00001
|
NM_000035.4(ALDOB):c.1026G>A (p.Gln342=)
|
rs995263904
|
0.00001
|
NM_000035.4(ALDOB):c.1035C>T (p.His345=)
|
rs761508514
|
0.00001
|
NM_000035.4(ALDOB):c.105A>G (p.Glu35=)
|
rs770470240
|
0.00001
|
NM_000035.4(ALDOB):c.1062C>G (p.Thr354=)
|
rs779217157
|
0.00001
|
NM_000035.4(ALDOB):c.1065G>A (p.Gln355=)
|
rs1218895360
|
0.00001
|
NM_000035.4(ALDOB):c.113-9C>T
|
rs1831193811
|
0.00001
|
NM_000035.4(ALDOB):c.147G>A (p.Val49=)
|
rs777794664
|
0.00001
|
NM_000035.4(ALDOB):c.201C>T (p.Asp67=)
|
rs1201355810
|
0.00001
|
NM_000035.4(ALDOB):c.222C>T (p.Ile74=)
|
rs754735910
|
0.00001
|
NM_000035.4(ALDOB):c.243C>T (p.His81=)
|
rs182003715
|
0.00001
|
NM_000035.4(ALDOB):c.270G>A (p.Gln90=)
|
rs1176960115
|
0.00001
|
NM_000035.4(ALDOB):c.285A>G (p.Arg95=)
|
rs773510589
|
0.00001
|
NM_000035.4(ALDOB):c.309C>T (p.Ile103=)
|
rs747019279
|
0.00001
|
NM_000035.4(ALDOB):c.318A>G (p.Gly106=)
|
rs142196987
|
0.00001
|
NM_000035.4(ALDOB):c.396A>G (p.Ser132=)
|
rs751964153
|
0.00001
|
NM_000035.4(ALDOB):c.399G>A (p.Glu133=)
|
rs1436764381
|
0.00001
|
NM_000035.4(ALDOB):c.489T>A (p.Ala163=)
|
rs578048957
|
0.00001
|
NM_000035.4(ALDOB):c.537G>A (p.Gln179=)
|
rs775053176
|
0.00001
|
NM_000035.4(ALDOB):c.540+9C>A
|
rs371263581
|
0.00001
|
NM_000035.4(ALDOB):c.654T>C (p.Asn218=)
|
rs780943027
|
0.00001
|
NM_000035.4(ALDOB):c.708T>C (p.Ala236=)
|
rs761151751
|
0.00001
|
NM_000035.4(ALDOB):c.750T>A (p.Ala250=)
|
rs150644101
|
0.00001
|
NM_000035.4(ALDOB):c.813G>A (p.Leu271=)
|
rs1168325070
|
0.00001
|
NM_000035.4(ALDOB):c.873T>A (p.Pro291=)
|
rs765247994
|
0.00001
|
NM_000035.4(ALDOB):c.933G>A (p.Leu311=)
|
rs541062220
|
0.00001
|
NM_000035.4(ALDOB):c.996C>T (p.Ala332=)
|
rs1334639976
|
0.00001
|
NM_000046.5(ARSB):c.1023C>T (p.Gly341=)
|
rs769067669
|
0.00001
|
NM_000046.5(ARSB):c.1143-4C>A
|
rs371644454
|
0.00001
|
NM_000046.5(ARSB):c.1143-5T>C
|
rs777189032
|
0.00001
|
NM_000046.5(ARSB):c.117C>T (p.Ala39=)
|
rs1191475106
|
0.00001
|
NM_000046.5(ARSB):c.1214-8C>A
|
rs766561160
|
0.00001
|
NM_000046.5(ARSB):c.1224C>T (p.Asn408=)
|
rs762454192
|
0.00001
|
NM_000046.5(ARSB):c.1326G>A (p.Thr442=)
|
rs537543103
|
0.00001
|
NM_000046.5(ARSB):c.1337-6T>C
|
rs758986089
|
0.00001
|
NM_000046.5(ARSB):c.1338C>T (p.Gly446=)
|
rs1165970318
|
0.00001
|
NM_000046.5(ARSB):c.1389C>T (p.Pro463=)
|
rs774111900
|
0.00001
|
NM_000046.5(ARSB):c.144C>T (p.Val48=)
|
rs1333402479
|
0.00001
|
NM_000046.5(ARSB):c.1482C>T (p.Ile494=)
|
rs767372619
|
0.00001
|
NM_000046.5(ARSB):c.1488A>G (p.Thr496=)
|
rs1233444230
|
0.00001
|
NM_000046.5(ARSB):c.1584G>A (p.Val528=)
|
rs1028337311
|
0.00001
|
NM_000046.5(ARSB):c.163C>T (p.Leu55=)
|
rs769716793
|
0.00001
|
NM_000046.5(ARSB):c.174C>T (p.Asn58=)
|
rs1753117512
|
0.00001
|
NM_000046.5(ARSB):c.222G>C (p.Ala74=)
|
rs1160145148
|
0.00001
|
NM_000046.5(ARSB):c.231C>T (p.Ala77=)
|
rs542520705
|
0.00001
|
NM_000046.5(ARSB):c.264G>A (p.Gln88=)
|
rs750947605
|
0.00001
|
NM_000046.5(ARSB):c.267G>C (p.Pro89=)
|
rs573453966
|
0.00001
|
NM_000046.5(ARSB):c.276G>A (p.Thr92=)
|
rs1474189742
|
0.00001
|
NM_000046.5(ARSB):c.279G>A (p.Pro93=)
|
rs1264986788
|
0.00001
|
NM_000046.5(ARSB):c.312+10G>T
|
rs901158566
|
0.00001
|
NM_000046.5(ARSB):c.312+7G>A
|
rs1315861475
|
0.00001
|
NM_000046.5(ARSB):c.324T>C (p.Gly108=)
|
rs1024390842
|
0.00001
|
NM_000046.5(ARSB):c.339A>T (p.Ile113=)
|
rs762897195
|
0.00001
|
NM_000046.5(ARSB):c.385C>T (p.Leu129=)
|
rs1421401801
|
0.00001
|
NM_000046.5(ARSB):c.429C>T (p.Val143=)
|
rs775488835
|
0.00001
|
NM_000046.5(ARSB):c.499+10A>G
|
rs779812696
|
0.00001
|
NM_000046.5(ARSB):c.500-7C>A
|
rs1322794828
|
0.00001
|
NM_000046.5(ARSB):c.555C>T (p.Asp185=)
|
rs780886808
|
0.00001
|
NM_000046.5(ARSB):c.567C>G (p.Val189=)
|
rs1396554870
|
0.00001
|
NM_000046.5(ARSB):c.597C>T (p.Gly199=)
|
rs570750353
|
0.00001
|
NM_000046.5(ARSB):c.663C>T (p.Ala221=)
|
rs534594272
|
0.00001
|
NM_000046.5(ARSB):c.66C>T (p.Val22=)
|
rs895965810
|
0.00001
|
NM_000046.5(ARSB):c.690+11C>T
|
rs1178359653
|
0.00001
|
NM_000046.5(ARSB):c.714C>G (p.Leu238=)
|
rs1293017800
|
0.00001
|
NM_000046.5(ARSB):c.723G>A (p.Val241=)
|
rs199858121
|
0.00001
|
NM_000046.5(ARSB):c.726T>C (p.His242=)
|
rs1319944737
|
0.00001
|
NM_000046.5(ARSB):c.753C>T (p.Tyr251=)
|
rs765711776
|
0.00001
|
NM_000046.5(ARSB):c.783G>A (p.Lys261=)
|
rs575119903
|
0.00001
|
NM_000046.5(ARSB):c.84G>A (p.Leu28=)
|
rs754324013
|
0.00001
|
NM_000046.5(ARSB):c.898+7C>T
|
rs573613390
|
0.00001
|
NM_000046.5(ARSB):c.91T>C (p.Leu31=)
|
rs1215729608
|
0.00001
|
NM_000046.5(ARSB):c.984G>C (p.Gly328=)
|
rs762523255
|
0.00001
|
NM_000108.5(DLD):c.1032A>G (p.Gln344=)
|
rs762641521
|
0.00001
|
NM_000108.5(DLD):c.1101G>A (p.Glu367=)
|
rs377345899
|
0.00001
|
NM_000108.5(DLD):c.1161T>C (p.Asn387=)
|
rs1232556757
|
0.00001
|
NM_000108.5(DLD):c.1182C>T (p.Tyr394=)
|
rs757087726
|
0.00001
|
NM_000108.5(DLD):c.119-5C>T
|
rs377653882
|
0.00001
|
NM_000108.5(DLD):c.1236+9G>A
|
rs780911500
|
0.00001
|
NM_000108.5(DLD):c.1266A>G (p.Pro422=)
|
rs766756785
|
0.00001
|
NM_000108.5(DLD):c.1275T>C (p.Ala425=)
|
rs751879528
|
0.00001
|
NM_000108.5(DLD):c.1374+8T>C
|
rs768177436
|
0.00001
|
NM_000108.5(DLD):c.1443T>G (p.Ala481=)
|
rs775957704
|
0.00001
|
NM_000108.5(DLD):c.1467C>A (p.Thr489=)
|
rs1381413555
|
0.00001
|
NM_000108.5(DLD):c.1500T>C (p.Ala500=)
|
rs773097788
|
0.00001
|
NM_000108.5(DLD):c.199-4G>T
|
rs763348101
|
0.00001
|
NM_000108.5(DLD):c.199-7G>T
|
rs1358100638
|
0.00001
|
NM_000108.5(DLD):c.204C>G (p.Val68=)
|
rs553951105
|
0.00001
|
NM_000108.5(DLD):c.24C>T (p.Tyr8=)
|
rs778122189
|
0.00001
|
NM_000108.5(DLD):c.268-19T>C
|
rs373587265
|
0.00001
|
NM_000108.5(DLD):c.268-7C>T
|
rs1584463325
|
0.00001
|
NM_000108.5(DLD):c.375G>A (p.Glu125=)
|
rs559057715
|
0.00001
|
NM_000108.5(DLD):c.387T>A (p.Thr129=)
|
rs748122031
|
0.00001
|
NM_000108.5(DLD):c.39+11A>C
|
rs2031564900
|
0.00001
|
NM_000108.5(DLD):c.393A>G (p.Val131=)
|
rs773013949
|
0.00001
|
NM_000108.5(DLD):c.417C>G (p.Ala139=)
|
rs759291025
|
0.00001
|
NM_000108.5(DLD):c.504T>C (p.Asp168=)
|
rs1291877622
|
0.00001
|
NM_000108.5(DLD):c.540T>C (p.Leu180=)
|
rs369876154
|
0.00001
|
NM_000108.5(DLD):c.57A>T (p.Arg19=)
|
rs754899464
|
0.00001
|
NM_000108.5(DLD):c.606A>T (p.Ser202=)
|
rs1362069416
|
0.00001
|
NM_000108.5(DLD):c.669A>C (p.Val223=)
|
rs764478905
|
0.00001
|
NM_000108.5(DLD):c.684+9T>A
|
rs1160897223
|
0.00001
|
NM_000108.5(DLD):c.741T>C (p.His247=)
|
rs781000040
|
0.00001
|
NM_000108.5(DLD):c.96G>C (p.Leu32=)
|
rs765623212
|
0.00001
|
NM_000147.5(FUCA1):c.1251A>C (p.Ser417=)
|
rs897246170
|
0.00001
|
NM_000147.5(FUCA1):c.12G>C (p.Pro4=)
|
rs775815377
|
0.00001
|
NM_000147.5(FUCA1):c.1326C>T (p.Ile442=)
|
rs924511473
|
0.00001
|
NM_000147.5(FUCA1):c.144G>A (p.Pro48=)
|
rs1383407330
|
0.00001
|
NM_000147.5(FUCA1):c.294G>C (p.Pro98=)
|
rs773469453
|
0.00001
|
NM_000147.5(FUCA1):c.30G>C (p.Pro10=)
|
rs886046326
|
0.00001
|
NM_000147.5(FUCA1):c.390-20T>C
|
rs1460987220
|
0.00001
|
NM_000147.5(FUCA1):c.465C>T (p.Ser155=)
|
rs563341708
|
0.00001
|
NM_000147.5(FUCA1):c.662+9C>T
|
rs1009553855
|
0.00001
|
NM_000147.5(FUCA1):c.663-11A>G
|
rs759359539
|
0.00001
|
NM_000147.5(FUCA1):c.759C>T (p.Ser253=)
|
rs757698879
|
0.00001
|
NM_000147.5(FUCA1):c.903G>A (p.Lys301=)
|
rs1639349703
|
0.00001
|
NM_000147.5(FUCA1):c.927C>T (p.Asp309=)
|
rs1639347894
|
0.00001
|
NM_000147.5(FUCA1):c.933A>C (p.Ala311=)
|
rs1035389960
|
0.00001
|
NM_000151.4(G6PC1):c.1011C>T (p.Ser337=)
|
rs373605105
|
0.00001
|
NM_000151.4(G6PC1):c.1026C>T (p.Pro342=)
|
rs2056095342
|
0.00001
|
NM_000151.4(G6PC1):c.1029C>T (p.Tyr343=)
|
rs1019836830
|
0.00001
|
NM_000151.4(G6PC1):c.102C>T (p.Ser34=)
|
rs747426958
|
0.00001
|
NM_000151.4(G6PC1):c.1035C>T (p.Leu345=)
|
rs750975981
|
0.00001
|
NM_000151.4(G6PC1):c.1056G>A (p.Pro352=)
|
rs779263877
|
0.00001
|
NM_000151.4(G6PC1):c.108C>T (p.Ile36=)
|
rs148461633
|
0.00001
|
NM_000151.4(G6PC1):c.219C>A (p.Leu73=)
|
rs373545775
|
0.00001
|
NM_000151.4(G6PC1):c.225T>C (p.Phe75=)
|
rs781714941
|
0.00001
|
NM_000151.4(G6PC1):c.231-12G>A
|
rs373908549
|
0.00001
|
NM_000151.4(G6PC1):c.294C>T (p.Ser98=)
|
rs777452219
|
0.00001
|
NM_000151.4(G6PC1):c.324C>G (p.Thr108=)
|
rs1282008398
|
0.00001
|
NM_000151.4(G6PC1):c.340+7G>A
|
rs570199529
|
0.00001
|
NM_000151.4(G6PC1):c.341-12C>T
|
rs774885342
|
0.00001
|
NM_000151.4(G6PC1):c.357T>C (p.His119=)
|
rs562533427
|
0.00001
|
NM_000151.4(G6PC1):c.384C>T (p.Tyr128=)
|
rs764401169
|
0.00001
|
NM_000151.4(G6PC1):c.447-4G>A
|
rs756002909
|
0.00001
|
NM_000151.4(G6PC1):c.453G>A (p.Leu151=)
|
rs369892096
|
0.00001
|
NM_000151.4(G6PC1):c.45A>C (p.Ser15=)
|
rs1394010585
|
0.00001
|
NM_000151.4(G6PC1):c.490C>T (p.Leu164=)
|
rs987462071
|
0.00001
|
NM_000151.4(G6PC1):c.562+7G>A
|
rs2056082387
|
0.00001
|
NM_000151.4(G6PC1):c.642C>T (p.Phe214=)
|
rs1237769909
|
0.00001
|
NM_000151.4(G6PC1):c.699C>T (p.Asp233=)
|
rs1285837426
|
0.00001
|
NM_000151.4(G6PC1):c.723C>T (p.Ala241=)
|
rs762967975
|
0.00001
|
NM_000151.4(G6PC1):c.726G>A (p.Gln242=)
|
rs9905900
|
0.00001
|
NM_000151.4(G6PC1):c.780C>T (p.Ser260=)
|
rs748610705
|
0.00001
|
NM_000151.4(G6PC1):c.801G>A (p.Thr267=)
|
rs755630386
|
0.00001
|
NM_000151.4(G6PC1):c.822T>C (p.Ala274=)
|
rs761361643
|
0.00001
|
NM_000151.4(G6PC1):c.879A>G (p.Pro293=)
|
rs529957748
|
0.00001
|
NM_000151.4(G6PC1):c.921C>T (p.His307=)
|
rs2056094089
|
0.00001
|
NM_000152.5(GAA):c.1044G>A (p.Lys348=)
|
rs1249705476
|
0.00001
|
NM_000152.5(GAA):c.1047C>T (p.Ser349=)
|
rs138262940
|
0.00001
|
NM_000152.5(GAA):c.1053G>A (p.Val351=)
|
rs773063199
|
0.00001
|
NM_000152.5(GAA):c.1056G>A (p.Gln352=)
|
rs2039145288
|
0.00001
|
NM_000152.5(GAA):c.1068C>T (p.Asp356=)
|
rs751215137
|
0.00001
|
NM_000152.5(GAA):c.108G>A (p.Leu36=)
|
rs1369758261
|
0.00001
|
NM_000152.5(GAA):c.1095A>G (p.Pro365=)
|
rs1555600060
|
0.00001
|
NM_000152.5(GAA):c.1107G>T (p.Leu369=)
|
rs767807936
|
0.00001
|
NM_000152.5(GAA):c.1110C>G (p.Gly370=)
|
rs775172804
|
0.00001
|
NM_000152.5(GAA):c.1116C>T (p.His372=)
|
rs760146859
|
0.00001
|
NM_000152.5(GAA):c.1146T>G (p.Ala382=)
|
rs1259509761
|
0.00001
|
NM_000152.5(GAA):c.1161G>C (p.Val387=)
|
rs756211975
|
0.00001
|
NM_000152.5(GAA):c.1170C>T (p.Asn390=)
|
rs757174980
|
0.00001
|
NM_000152.5(GAA):c.1192C>T (p.Leu398=)
|
rs369707231
|
0.00001
|
NM_000152.5(GAA):c.1195-4G>T
|
rs886042626
|
0.00001
|
NM_000152.5(GAA):c.1197C>T (p.Asp399=)
|
rs1555600168
|
0.00001
|
NM_000152.5(GAA):c.1200C>G (p.Val400=)
|
rs1431452557
|
0.00001
|
NM_000152.5(GAA):c.1227C>T (p.Asp409=)
|
rs2039157937
|
0.00001
|
NM_000152.5(GAA):c.1323C>T (p.Ile441=)
|
rs761982159
|
0.00001
|
NM_000152.5(GAA):c.1326+8C>A
|
rs762988038
|
0.00001
|
NM_000152.5(GAA):c.1338C>T (p.Ile446=)
|
rs931782061
|
0.00001
|
NM_000152.5(GAA):c.1347G>A (p.Ser449=)
|
rs756938942
|
0.00001
|
NM_000152.5(GAA):c.1410C>T (p.Asn470=)
|
rs886043068
|
0.00001
|
NM_000152.5(GAA):c.1438-10C>T
|
rs1029231930
|
0.00001
|
NM_000152.5(GAA):c.1449G>A (p.Gly483=)
|
rs2039213274
|
0.00001
|
NM_000152.5(GAA):c.1455T>G (p.Thr485=)
|
rs774037839
|
0.00001
|
NM_000152.5(GAA):c.1458C>T (p.Ala486=)
|
rs1051768479
|
0.00001
|
NM_000152.5(GAA):c.1464C>T (p.Pro488=)
|
rs767075458
|
0.00001
|
NM_000152.5(GAA):c.1485C>T (p.Ala495=)
|
rs765596792
|
0.00001
|
NM_000152.5(GAA):c.1500G>A (p.Glu500=)
|
rs893313279
|
0.00001
|
NM_000152.5(GAA):c.1539C>T (p.Asp513=)
|
rs150990571
|
0.00001
|
NM_000152.5(GAA):c.1551+10G>T
|
rs1002900770
|
0.00001
|
NM_000152.5(GAA):c.1551+12C>A
|
rs937342824
|
0.00001
|
NM_000152.5(GAA):c.1551+7G>A
|
rs1340464172
|
0.00001
|
NM_000152.5(GAA):c.1636+14C>T
|
rs758256318
|
0.00001
|
NM_000152.5(GAA):c.1636+7T>C
|
rs1041767114
|
0.00001
|
NM_000152.5(GAA):c.1636+9G>A
|
rs200302174
|
0.00001
|
NM_000152.5(GAA):c.1637-11G>A
|
rs557695694
|
0.00001
|
NM_000152.5(GAA):c.1662G>A (p.Ala554=)
|
rs775954786
|
0.00001
|
NM_000152.5(GAA):c.1698C>T (p.Ser566=)
|
rs970201201
|
0.00001
|
NM_000152.5(GAA):c.1754+8C>T
|
rs1349192080
|
0.00001
|
NM_000152.5(GAA):c.1755-11C>T
|
rs752066426
|
0.00001
|
NM_000152.5(GAA):c.1797C>A (p.Ser599=)
|
rs761377657
|
0.00001
|
NM_000152.5(GAA):c.1827C>T (p.Tyr609=)
|
rs745754277
|
0.00001
|
NM_000152.5(GAA):c.183C>T (p.Ser61=)
|
rs17853995
|
0.00001
|
NM_000152.5(GAA):c.1842G>A (p.Thr614=)
|
rs373955374
|
0.00001
|
NM_000152.5(GAA):c.1857C>T (p.Ser619=)
|
rs914396317
|
0.00001
|
NM_000152.5(GAA):c.1884G>C (p.Val628=)
|
rs780130036
|
0.00001
|
NM_000152.5(GAA):c.1889-14C>T
|
rs890806224
|
0.00001
|
NM_000152.5(GAA):c.1926C>T (p.Val642=)
|
rs1346499760
|
0.00001
|
NM_000152.5(GAA):c.1959C>T (p.Thr653=)
|
rs370737292
|
0.00001
|
NM_000152.5(GAA):c.1977G>A (p.Val659=)
|
rs751873094
|
0.00001
|
NM_000152.5(GAA):c.2025C>T (p.Asn675=)
|
rs143951130
|
0.00001
|
NM_000152.5(GAA):c.2040+16C>T
|
rs573522544
|
0.00001
|
NM_000152.5(GAA):c.2040+8G>A
|
rs779647712
|
0.00001
|
NM_000152.5(GAA):c.2041-13G>A
|
rs1450561353
|
0.00001
|
NM_000152.5(GAA):c.2041-14C>T
|
rs1047297951
|
0.00001
|
NM_000152.5(GAA):c.2041-17C>T
|
rs746028622
|
0.00001
|
NM_000152.5(GAA):c.2041-7C>T
|
rs1212995227
|
0.00001
|
NM_000152.5(GAA):c.2070G>A (p.Pro690=)
|
rs757802524
|
0.00001
|
NM_000152.5(GAA):c.2097C>T (p.Leu699=)
|
rs1381174968
|
0.00001
|
NM_000152.5(GAA):c.2118C>T (p.Leu706=)
|
rs1479318289
|
0.00001
|
NM_000152.5(GAA):c.2142C>T (p.His714=)
|
rs779462990
|
0.00001
|
NM_000152.5(GAA):c.2166C>T (p.Thr722=)
|
rs759452172
|
0.00001
|
NM_000152.5(GAA):c.2259C>T (p.Thr753=)
|
rs2039367115
|
0.00001
|
NM_000152.5(GAA):c.2283C>T (p.Ala761=)
|
rs774769974
|
0.00001
|
NM_000152.5(GAA):c.231A>G (p.Ala77=)
|
rs748580998
|
0.00001
|
NM_000152.5(GAA):c.234G>T (p.Val78=)
|
rs2039033854
|
0.00001
|
NM_000152.5(GAA):c.2392A>G (p.Ile798Val)
|
rs752459996
|
0.00001
|
NM_000152.5(GAA):c.2424G>A (p.Pro808=)
|
rs763272351
|
0.00001
|
NM_000152.5(GAA):c.2427C>G (p.Ala809=)
|
rs766325117
|
0.00001
|
NM_000152.5(GAA):c.2463G>T (p.Gly821=)
|
rs923989221
|
0.00001
|
NM_000152.5(GAA):c.2476C>T (p.Leu826=)
|
rs2039389671
|
0.00001
|
NM_000152.5(GAA):c.2481+12A>G
|
rs773652476
|
0.00001
|
NM_000152.5(GAA):c.2544C>T (p.Thr848=)
|
rs776487269
|
0.00001
|
NM_000152.5(GAA):c.2550T>C (p.Gly850=)
|
rs761608706
|
0.00001
|
NM_000152.5(GAA):c.2619C>T (p.Tyr873=)
|
rs1555603132
|
0.00001
|
NM_000152.5(GAA):c.2641A>G (p.Arg881Gly)
|
rs769578772
|
0.00001
|
NM_000152.5(GAA):c.2646+11G>A
|
rs1219786295
|
0.00001
|
NM_000152.5(GAA):c.2646+8C>A
|
rs773123506
|
0.00001
|
NM_000152.5(GAA):c.264C>T (p.Ser88=)
|
rs1470933192
|
0.00001
|
NM_000152.5(GAA):c.2655C>T (p.Ile885=)
|
rs774840779
|
0.00001
|
NM_000152.5(GAA):c.2700G>A (p.Gln900=)
|
rs1490464728
|
0.00001
|
NM_000152.5(GAA):c.270C>T (p.Phe90=)
|
rs768078324
|
0.00001
|
NM_000152.5(GAA):c.2712G>A (p.Val904=)
|
rs886043848
|
0.00001
|
NM_000152.5(GAA):c.276C>T (p.Cys92=)
|
rs1232001857
|
0.00001
|
NM_000152.5(GAA):c.2820G>A (p.Ser940=)
|
rs992579033
|
0.00001
|
NM_000152.5(GAA):c.2844C>T (p.Leu948=)
|
rs774656713
|
0.00001
|
NM_000152.5(GAA):c.36C>T (p.Leu12=)
|
rs200548806
|
0.00001
|
NM_000152.5(GAA):c.372G>A (p.Gln124=)
|
rs899924363
|
0.00001
|
NM_000152.5(GAA):c.384C>T (p.Phe128=)
|
rs1021707839
|
0.00001
|
NM_000152.5(GAA):c.421C>T (p.Leu141=)
|
rs1379595858
|
0.00001
|
NM_000152.5(GAA):c.42C>G (p.Ala14=)
|
rs141377453
|
0.00001
|
NM_000152.5(GAA):c.444C>T (p.Tyr148=)
|
rs886043112
|
0.00001
|
NM_000152.5(GAA):c.450C>G (p.Ala150=)
|
rs752367410
|
0.00001
|
NM_000152.5(GAA):c.456G>T (p.Leu152=)
|
rs1477781307
|
0.00001
|
NM_000152.5(GAA):c.459C>G (p.Thr153=)
|
rs751672437
|
0.00001
|
NM_000152.5(GAA):c.468C>T (p.Thr156=)
|
rs145849611
|
0.00001
|
NM_000152.5(GAA):c.471C>T (p.Pro157=)
|
rs551653463
|
0.00001
|
NM_000152.5(GAA):c.48C>T (p.Cys16=)
|
rs202168804
|
0.00001
|
NM_000152.5(GAA):c.546+12A>G
|
rs1438157883
|
0.00001
|
NM_000152.5(GAA):c.546+7A>C
|
rs1329049814
|
0.00001
|
NM_000152.5(GAA):c.594G>A (p.Pro198=)
|
rs1426823689
|
0.00001
|
NM_000152.5(GAA):c.603C>T (p.His201=)
|
rs1442775924
|
0.00001
|
NM_000152.5(GAA):c.609G>A (p.Arg203=)
|
rs1247872563
|
0.00001
|
NM_000152.5(GAA):c.615G>A (p.Pro205=)
|
rs141427808
|
0.00001
|
NM_000152.5(GAA):c.621A>G (p.Pro207=)
|
rs772482115
|
0.00001
|
NM_000152.5(GAA):c.630C>T (p.Ser210=)
|
rs775568949
|
0.00001
|
NM_000152.5(GAA):c.681C>T (p.Asp227=)
|
rs780515378
|
0.00001
|
NM_000152.5(GAA):c.692+9T>C
|
rs367661167
|
0.00001
|
NM_000152.5(GAA):c.702G>A (p.Thr234=)
|
rs755337511
|
0.00001
|
NM_000152.5(GAA):c.715C>T (p.Leu239=)
|
rs778882374
|
0.00001
|
NM_000152.5(GAA):c.780C>T (p.Leu260=)
|
rs372614893
|
0.00001
|
NM_000152.5(GAA):c.783C>T (p.Ala261=)
|
rs757356178
|
0.00001
|
NM_000152.5(GAA):c.798C>G (p.Pro266=)
|
rs1598575210
|
0.00001
|
NM_000152.5(GAA):c.834G>A (p.Leu278=)
|
rs776314424
|
0.00001
|
NM_000152.5(GAA):c.843G>A (p.Arg281=)
|
rs1221565410
|
0.00001
|
NM_000152.5(GAA):c.858+14C>T
|
rs746986703
|
0.00001
|
NM_000152.5(GAA):c.859-19C>T
|
rs1331623680
|
0.00001
|
NM_000152.5(GAA):c.876C>T (p.Tyr292=)
|
rs763216519
|
0.00001
|
NM_000152.5(GAA):c.900G>A (p.Ala300=)
|
rs759425304
|
0.00001
|
NM_000152.5(GAA):c.906G>A (p.Glu302=)
|
rs1488323868
|
0.00001
|
NM_000152.5(GAA):c.909C>T (p.Asp303=)
|
rs752724918
|
0.00001
|
NM_000152.5(GAA):c.918G>A (p.Ser306=)
|
rs373276219
|
0.00001
|
NM_000152.5(GAA):c.936G>T (p.Leu312=)
|
rs1456154347
|
0.00001
|
NM_000152.5(GAA):c.993G>A (p.Arg331=)
|
rs749831587
|
0.00001
|
NM_000152.5(GAA):c.996G>A (p.Ser332=)
|
rs779266179
|
0.00001
|
NM_000152.5(GAA):c.99T>C (p.His33=)
|
rs144736309
|
0.00001
|
NM_000154.2(GALK1):c.1005G>T (p.Val335=)
|
rs1182006462
|
0.00001
|
NM_000154.2(GALK1):c.1101C>T (p.His367=)
|
rs1436958552
|
0.00001
|
NM_000154.2(GALK1):c.1107+14A>G
|
rs779926252
|
0.00001
|
NM_000154.2(GALK1):c.1107+7G>A
|
rs768625071
|
0.00001
|
NM_000154.2(GALK1):c.1137C>T (p.Tyr379=)
|
rs2061561144
|
0.00001
|
NM_000154.2(GALK1):c.153G>T (p.Leu51=)
|
rs573790143
|
0.00001
|
NM_000154.2(GALK1):c.183G>A (p.Thr61=)
|
rs1488762066
|
0.00001
|
NM_000154.2(GALK1):c.216G>A (p.Leu72=)
|
rs752773767
|
0.00001
|
NM_000154.2(GALK1):c.273A>G (p.Pro91=)
|
rs2061599258
|
0.00001
|
NM_000154.2(GALK1):c.291C>G (p.Arg97=)
|
rs368542855
|
0.00001
|
NM_000154.2(GALK1):c.30G>T (p.Ala10=)
|
rs1174194549
|
0.00001
|
NM_000154.2(GALK1):c.321C>T (p.Ala107=)
|
rs771880802
|
0.00001
|
NM_000154.2(GALK1):c.355+9C>A
|
rs1437523931
|
0.00001
|
NM_000154.2(GALK1):c.356-10T>C
|
rs1282630071
|
0.00001
|
NM_000154.2(GALK1):c.408G>A (p.Gly136=)
|
rs138057626
|
0.00001
|
NM_000154.2(GALK1):c.417G>C (p.Leu139=)
|
rs761316738
|
0.00001
|
NM_000154.2(GALK1):c.441G>A (p.Val147=)
|
rs780587160
|
0.00001
|
NM_000154.2(GALK1):c.475+7G>C
|
rs375660566
|
0.00001
|
NM_000154.2(GALK1):c.476-9G>A
|
rs774490771
|
0.00001
|
NM_000154.2(GALK1):c.480G>A (p.Ser160=)
|
rs756405600
|
0.00001
|
NM_000154.2(GALK1):c.498C>T (p.Arg166=)
|
rs763880577
|
0.00001
|
NM_000154.2(GALK1):c.611+10G>A
|
rs766858133
|
0.00001
|
NM_000154.2(GALK1):c.628C>T (p.Leu210=)
|
rs1435062185
|
0.00001
|
NM_000154.2(GALK1):c.645C>T (p.Asp215=)
|
rs201939520
|
0.00001
|
NM_000154.2(GALK1):c.654G>A (p.Leu218=)
|
rs1487175886
|
0.00001
|
NM_000154.2(GALK1):c.699C>T (p.Ser233=)
|
rs1402390213
|
0.00001
|
NM_000154.2(GALK1):c.744G>A (p.Arg248=)
|
rs774107830
|
0.00001
|
NM_000154.2(GALK1):c.748C>T (p.Leu250=)
|
rs904702679
|
0.00001
|
NM_000154.2(GALK1):c.759A>G (p.Glu253=)
|
rs1177538590
|
0.00001
|
NM_000154.2(GALK1):c.786G>A (p.Glu262=)
|
rs756263074
|
0.00001
|
NM_000154.2(GALK1):c.84C>G (p.Pro28=)
|
rs757263223
|
0.00001
|
NM_000154.2(GALK1):c.858G>A (p.Arg286=)
|
rs1349483506
|
0.00001
|
NM_000154.2(GALK1):c.909T>C (p.Phe303=)
|
rs1337504590
|
0.00001
|
NM_000154.2(GALK1):c.915C>T (p.Arg305=)
|
rs763728671
|
0.00001
|
NM_000154.2(GALK1):c.933C>T (p.His311=)
|
rs759153077
|
0.00001
|
NM_000154.2(GALK1):c.93C>G (p.Ala31=)
|
rs1165544582
|
0.00001
|
NM_000154.2(GALK1):c.966C>T (p.Cys322=)
|
rs969862473
|
0.00001
|
NM_000154.2(GALK1):c.975G>A (p.Leu325=)
|
rs1247403138
|
0.00001
|
NM_000154.2(GALK1):c.978C>T (p.Asp326=)
|
rs765769433
|
0.00001
|
NM_000154.2(GALK1):c.982C>T (p.Leu328=)
|
rs374440207
|
0.00001
|
NM_000154.2(GALK1):c.996G>A (p.Ala332=)
|
rs1456156062
|
0.00001
|
NM_000155.4(GALT):c.1017C>T (p.Tyr339=)
|
rs759417724
|
0.00001
|
NM_000155.4(GALT):c.1038G>A (p.Gln346=)
|
rs1821202634
|
0.00001
|
NM_000155.4(GALT):c.1060-10C>T
|
rs1245856299
|
0.00001
|
NM_000155.4(GALT):c.1139G>A (p.Ter380=)
|
rs749047676
|
0.00001
|
NM_000155.4(GALT):c.18C>T (p.Thr6=)
|
rs765932955
|
0.00001
|
NM_000155.4(GALT):c.253-6C>T
|
rs753450355
|
0.00001
|
NM_000155.4(GALT):c.315T>C (p.Asp105=)
|
rs1487519949
|
0.00001
|
NM_000155.4(GALT):c.328+7T>C
|
rs774350978
|
0.00001
|
NM_000155.4(GALT):c.329-7A>T
|
rs1320038166
|
0.00001
|
NM_000155.4(GALT):c.329-8_329-7dup
|
rs775960045
|
0.00001
|
NM_000155.4(GALT):c.366T>G (p.Ala122=)
|
rs777382338
|
0.00001
|
NM_000155.4(GALT):c.378-6A>T
|
rs756647683
|
0.00001
|
NM_000155.4(GALT):c.378-7C>T
|
rs751084584
|
0.00001
|
NM_000155.4(GALT):c.390C>T (p.Cys130=)
|
rs1410761611
|
0.00001
|
NM_000155.4(GALT):c.456T>C (p.Asp152=)
|
rs763835338
|
0.00001
|
NM_000155.4(GALT):c.564+7G>A
|
rs760189807
|
0.00001
|
NM_000155.4(GALT):c.567A>G (p.Val189=)
|
rs1346797747
|
0.00001
|
NM_000155.4(GALT):c.632G>C (p.Ser211Thr)
|
rs3824553
|
0.00001
|
NM_000155.4(GALT):c.663C>T (p.Tyr221=)
|
rs755000603
|
0.00001
|
NM_000155.4(GALT):c.678A>G (p.Leu226=)
|
rs777577533
|
0.00001
|
NM_000155.4(GALT):c.702A>G (p.Leu234=)
|
rs1767207852
|
0.00001
|
NM_000155.4(GALT):c.760C>T (p.Leu254=)
|
rs532126218
|
0.00001
|
NM_000155.4(GALT):c.762G>A (p.Leu254=)
|
rs748639317
|
0.00001
|
NM_000155.4(GALT):c.795T>G (p.Pro265=)
|
rs762866149
|
0.00001
|
NM_000155.4(GALT):c.82+15G>A
|
rs752065555
|
0.00001
|
NM_000155.4(GALT):c.843G>A (p.Lys281=)
|
rs368298966
|
0.00001
|
NM_000155.4(GALT):c.975G>A (p.Pro325=)
|
rs762558133
|
0.00001
|
NM_000155.4(GALT):c.978C>G (p.Leu326=)
|
rs1341964661
|
0.00001
|
NM_000158.4(GBE1):c.102C>T (p.Ile34=)
|
rs764543442
|
0.00001
|
NM_000158.4(GBE1):c.105C>T (p.Asp35=)
|
rs1559712501
|
0.00001
|
NM_000158.4(GBE1):c.1083C>T (p.Ser361=)
|
rs377496485
|
0.00001
|
NM_000158.4(GBE1):c.1108+8A>T
|
rs961583898
|
0.00001
|
NM_000158.4(GBE1):c.1110T>C (p.Gly370=)
|
rs770335349
|
0.00001
|
NM_000158.4(GBE1):c.112T>C (p.Leu38=)
|
rs1050660548
|
0.00001
|
NM_000158.4(GBE1):c.1143C>T (p.Phe381=)
|
rs1385414901
|
0.00001
|
NM_000158.4(GBE1):c.114G>A (p.Leu38=)
|
rs932010631
|
0.00001
|
NM_000158.4(GBE1):c.1206G>A (p.Thr402=)
|
rs764245033
|
0.00001
|
NM_000158.4(GBE1):c.1242A>G (p.Val414=)
|
rs543823734
|
0.00001
|
NM_000158.4(GBE1):c.12G>A (p.Pro4=)
|
rs781086301
|
0.00001
|
NM_000158.4(GBE1):c.1302A>G (p.Arg434=)
|
rs532448572
|
0.00001
|
NM_000158.4(GBE1):c.1335+9C>G
|
rs754084067
|
0.00001
|
NM_000158.4(GBE1):c.1336-10T>G
|
rs749266678
|
0.00001
|
NM_000158.4(GBE1):c.143+9G>A
|
rs1267149365
|
0.00001
|
NM_000158.4(GBE1):c.1434G>A (p.Glu478=)
|
rs561832348
|
0.00001
|
NM_000158.4(GBE1):c.1446+18T>C
|
rs1013562114
|
0.00001
|
NM_000158.4(GBE1):c.1446+7G>T
|
rs1181307533
|
0.00001
|
NM_000158.4(GBE1):c.1473A>G (p.Ala491=)
|
rs748594311
|
0.00001
|
NM_000158.4(GBE1):c.1491C>T (p.Ala497=)
|
rs778539439
|
0.00001
|
NM_000158.4(GBE1):c.1512T>C (p.Ser504=)
|
rs779711697
|
0.00001
|
NM_000158.4(GBE1):c.1572A>G (p.Arg524=)
|
rs779517065
|
0.00001
|
NM_000158.4(GBE1):c.1581G>A (p.Thr527=)
|
rs140571802
|
0.00001
|
NM_000158.4(GBE1):c.1587G>A (p.Gly529=)
|
rs1324484445
|
0.00001
|
NM_000158.4(GBE1):c.1619-16G>A
|
rs546023161
|
0.00001
|
NM_000158.4(GBE1):c.1635T>C (p.His545=)
|
rs780741533
|
0.00001
|
NM_000158.4(GBE1):c.1662A>G (p.Lys554=)
|
rs752672762
|
0.00001
|
NM_000158.4(GBE1):c.1719C>T (p.Asp573=)
|
rs922718313
|
0.00001
|
NM_000158.4(GBE1):c.1791T>C (p.Leu597=)
|
rs968014009
|
0.00001
|
NM_000158.4(GBE1):c.1804-20A>G
|
rs751552216
|
0.00001
|
NM_000158.4(GBE1):c.1809C>T (p.Tyr603=)
|
rs765577833
|
0.00001
|
NM_000158.4(GBE1):c.1860T>C (p.Gly620=)
|
rs1473296120
|
0.00001
|
NM_000158.4(GBE1):c.1935-7G>T
|
rs1474858058
|
0.00001
|
NM_000158.4(GBE1):c.1960G>A (p.Ala654Thr)
|
rs527789602
|
0.00001
|
NM_000158.4(GBE1):c.1977G>A (p.Gly659=)
|
rs764925200
|
0.00001
|
NM_000158.4(GBE1):c.1989G>A (p.Leu663=)
|
rs774275405
|
0.00001
|
NM_000158.4(GBE1):c.2001T>A (p.Thr667=)
|
rs1250842116
|
0.00001
|
NM_000158.4(GBE1):c.2053-10T>G
|
rs1576117487
|
0.00001
|
NM_000158.4(GBE1):c.2103G>A (p.Pro701=)
|
rs775617188
|
0.00001
|
NM_000158.4(GBE1):c.313+9T>C
|
rs772444966
|
0.00001
|
NM_000158.4(GBE1):c.327A>G (p.Pro109=)
|
rs1200105843
|
0.00001
|
NM_000158.4(GBE1):c.351G>T (p.Leu117=)
|
rs749666538
|
0.00001
|
NM_000158.4(GBE1):c.370C>T (p.Leu124=)
|
rs1383085103
|
0.00001
|
NM_000158.4(GBE1):c.453A>G (p.Gly151=)
|
rs751739447
|
0.00001
|
NM_000158.4(GBE1):c.483A>C (p.Ala161=)
|
rs1054018717
|
0.00001
|
NM_000158.4(GBE1):c.492G>A (p.Val164=)
|
rs1375785515
|
0.00001
|
NM_000158.4(GBE1):c.555+7A>G
|
rs766695292
|
0.00001
|
NM_000158.4(GBE1):c.576G>A (p.Lys192=)
|
rs762329960
|
0.00001
|
NM_000158.4(GBE1):c.609T>C (p.His203=)
|
rs1202435927
|
0.00001
|
NM_000158.4(GBE1):c.648T>C (p.Tyr216=)
|
rs1295929595
|
0.00001
|
NM_000158.4(GBE1):c.64C>T (p.Leu22=)
|
rs756999152
|
0.00001
|
NM_000158.4(GBE1):c.660A>G (p.Thr220=)
|
rs527746026
|
0.00001
|
NM_000158.4(GBE1):c.692-6A>G
|
rs757655010
|
0.00001
|
NM_000158.4(GBE1):c.709T>C (p.Leu237=)
|
rs886038263
|
0.00001
|
NM_000158.4(GBE1):c.783-8A>G
|
rs1019962210
|
0.00001
|
NM_000158.4(GBE1):c.91C>T (p.Leu31Phe)
|
rs539925873
|
0.00001
|
NM_000158.4(GBE1):c.924C>T (p.Ser308=)
|
rs765783805
|
0.00001
|
NM_000158.4(GBE1):c.992+8C>T
|
rs779096891
|
0.00001
|
NM_000181.4(GUSB):c.1023A>G (p.Lys341=)
|
rs774381911
|
0.00001
|
NM_000181.4(GUSB):c.1050G>A (p.Lys350=)
|
rs121918182
|
0.00001
|
NM_000181.4(GUSB):c.1212C>T (p.Ile404=)
|
rs375214425
|
0.00001
|
NM_000181.4(GUSB):c.1245-4G>A
|
rs548368848
|
0.00001
|
NM_000181.4(GUSB):c.1326G>A (p.Ala442=)
|
rs1226319325
|
0.00001
|
NM_000181.4(GUSB):c.1623T>C (p.Tyr541=)
|
rs769788461
|
0.00001
|
NM_000181.4(GUSB):c.1791A>G (p.Ser597=)
|
rs767115386
|
0.00001
|
NM_000181.4(GUSB):c.1929A>G (p.Gln643=)
|
rs764493374
|
0.00001
|
NM_000181.4(GUSB):c.210+11G>C
|
rs886062403
|
0.00001
|
NM_000181.4(GUSB):c.396+15G>T
|
rs757135258
|
0.00001
|
NM_000181.4(GUSB):c.414C>T (p.Asp138=)
|
rs1444763456
|
0.00001
|
NM_000181.4(GUSB):c.581+16C>T
|
rs768612200
|
0.00001
|
NM_000181.4(GUSB):c.581+8C>T
|
rs527730129
|
0.00001
|
NM_000181.4(GUSB):c.666G>A (p.Thr222=)
|
rs773822519
|
0.00001
|
NM_000181.4(GUSB):c.669A>T (p.Thr223=)
|
rs201178083
|
0.00001
|
NM_000181.4(GUSB):c.681C>T (p.Tyr227=)
|
rs1791831745
|
0.00001
|
NM_000181.4(GUSB):c.861C>T (p.Leu287=)
|
rs753430922
|
0.00001
|
NM_000181.4(GUSB):c.870G>A (p.Pro290=)
|
rs377665214
|
0.00001
|
NM_000181.4(GUSB):c.988G>T (p.Ala330Ser)
|
rs561880652
|
0.00001
|
NM_000199.5(SGSH):c.1035C>T (p.Gly345=)
|
rs748069998
|
0.00001
|
NM_000199.5(SGSH):c.1080C>T (p.Thr360=)
|
rs766102096
|
0.00001
|
NM_000199.5(SGSH):c.114C>T (p.Gly38=)
|
rs2041924510
|
0.00001
|
NM_000199.5(SGSH):c.1158C>T (p.Leu386=)
|
rs765011477
|
0.00001
|
NM_000199.5(SGSH):c.1176C>T (p.Phe392=)
|
rs1286662072
|
0.00001
|
NM_000199.5(SGSH):c.1185C>T (p.Pro395=)
|
rs1249459941
|
0.00001
|
NM_000199.5(SGSH):c.1210G>A (p.Val404Ile)
|
rs191465934
|
0.00001
|
NM_000199.5(SGSH):c.129C>T (p.Ser43=)
|
rs747247188
|
0.00001
|
NM_000199.5(SGSH):c.1311G>A (p.Glu437=)
|
rs995838952
|
0.00001
|
NM_000199.5(SGSH):c.1323G>C (p.Arg441=)
|
rs202209795
|
0.00001
|
NM_000199.5(SGSH):c.1356C>T (p.Ala452=)
|
rs2041601835
|
0.00001
|
NM_000199.5(SGSH):c.1404G>A (p.Leu468=)
|
rs368952369
|
0.00001
|
NM_000199.5(SGSH):c.1443C>T (p.Cys481=)
|
rs747742566
|
0.00001
|
NM_000199.5(SGSH):c.1452C>T (p.Asp484=)
|
rs763360021
|
0.00001
|
NM_000199.5(SGSH):c.1455C>T (p.Gly485=)
|
rs757563981
|
0.00001
|
NM_000199.5(SGSH):c.1458C>T (p.Val486=)
|
rs1458442935
|
0.00001
|
NM_000199.5(SGSH):c.1500T>C (p.Asn500=)
|
rs771923742
|
0.00001
|
NM_000199.5(SGSH):c.189C>G (p.Ala63=)
|
rs760006618
|
0.00001
|
NM_000199.5(SGSH):c.241C>T (p.Leu81=)
|
rs778730409
|
0.00001
|
NM_000199.5(SGSH):c.243G>T (p.Leu81=)
|
rs543297521
|
0.00001
|
NM_000199.5(SGSH):c.249+10A>G
|
rs1313307206
|
0.00001
|
NM_000199.5(SGSH):c.250-14G>A
|
rs777111086
|
0.00001
|
NM_000199.5(SGSH):c.250-17T>C
|
rs765488698
|
0.00001
|
NM_000199.5(SGSH):c.258T>C (p.Asn86=)
|
rs1425717342
|
0.00001
|
NM_000199.5(SGSH):c.267C>T (p.Tyr89=)
|
rs1479456289
|
0.00001
|
NM_000199.5(SGSH):c.330G>A (p.Leu110=)
|
rs547771707
|
0.00001
|
NM_000199.5(SGSH):c.355+9C>T
|
rs746912493
|
0.00001
|
NM_000199.5(SGSH):c.356-12C>A
|
rs111239087
|
0.00001
|
NM_000199.5(SGSH):c.356-6G>A
|
rs764808311
|
0.00001
|
NM_000199.5(SGSH):c.363C>T (p.Ile121=)
|
rs2041824137
|
0.00001
|
NM_000199.5(SGSH):c.36G>C (p.Leu12=)
|
rs777433840
|
0.00001
|
NM_000199.5(SGSH):c.384G>A (p.Pro128=)
|
rs770944273
|
0.00001
|
NM_000199.5(SGSH):c.486C>T (p.Phe162=)
|
rs371061954
|
0.00001
|
NM_000199.5(SGSH):c.507-10T>G
|
rs780750001
|
0.00001
|
NM_000199.5(SGSH):c.507-10del
|
rs756440573
|
0.00001
|
NM_000199.5(SGSH):c.507-6G>A
|
rs751165124
|
0.00001
|
NM_000199.5(SGSH):c.525C>T (p.Val175=)
|
rs1035928326
|
0.00001
|
NM_000199.5(SGSH):c.555C>T (p.His185=)
|
rs1224820918
|
0.00001
|
NM_000199.5(SGSH):c.558C>T (p.Ser186=)
|
rs992564098
|
0.00001
|
NM_000199.5(SGSH):c.597C>T (p.Asn199=)
|
rs753030382
|
0.00001
|
NM_000199.5(SGSH):c.606C>T (p.Ser202=)
|
rs544509805
|
0.00001
|
NM_000199.5(SGSH):c.645C>T (p.Tyr215=)
|
rs151227799
|
0.00001
|
NM_000199.5(SGSH):c.664-10C>T
|
rs776319554
|
0.00001
|
NM_000199.5(SGSH):c.664-12C>T
|
rs750158313
|
0.00001
|
NM_000199.5(SGSH):c.664-13C>T
|
rs368107414
|
0.00001
|
NM_000199.5(SGSH):c.681C>A (p.Pro227=)
|
rs2041774244
|
0.00001
|
NM_000199.5(SGSH):c.684C>T (p.Asn228=)
|
rs562717448
|
0.00001
|
NM_000199.5(SGSH):c.702C>T (p.Ala234=)
|
rs1488422969
|
0.00001
|
NM_000199.5(SGSH):c.711C>T (p.Ala237=)
|
rs1288219418
|
0.00001
|
NM_000199.5(SGSH):c.729C>T (p.Val243=)
|
rs17854435
|
0.00001
|
NM_000199.5(SGSH):c.745+16C>T
|
rs747468287
|
0.00001
|
NM_000199.5(SGSH):c.75A>C (p.Ala25=)
|
rs1262969566
|
0.00001
|
NM_000199.5(SGSH):c.777C>T (p.Asp259=)
|
rs761104676
|
0.00001
|
NM_000199.5(SGSH):c.798A>G (p.Thr266=)
|
rs199562202
|
0.00001
|
NM_000199.5(SGSH):c.813G>A (p.Thr271=)
|
rs779676466
|
0.00001
|
NM_000199.5(SGSH):c.816C>T (p.Ser272=)
|
rs200485062
|
0.00001
|
NM_000199.5(SGSH):c.822C>T (p.Asn274=)
|
rs138927823
|
0.00001
|
NM_000199.5(SGSH):c.864G>A (p.Pro288=)
|
rs573496328
|
0.00001
|
NM_000199.5(SGSH):c.88+8C>T
|
rs75720127
|
0.00001
|
NM_000199.5(SGSH):c.89-16C>G
|
rs1038460314
|
0.00001
|
NM_000199.5(SGSH):c.89-16C>T
|
rs1038460314
|
0.00001
|
NM_000199.5(SGSH):c.89-5C>T
|
rs755694982
|
0.00001
|
NM_000199.5(SGSH):c.933C>T (p.Ala311=)
|
rs777957953
|
0.00001
|
NM_000199.5(SGSH):c.93T>C (p.Asp31=)
|
rs982161788
|
0.00001
|
NM_000199.5(SGSH):c.942C>T (p.Ser314=)
|
rs759810426
|
0.00001
|
NM_000199.5(SGSH):c.949+20C>T
|
rs539024687
|
0.00001
|
NM_000199.5(SGSH):c.949+7C>T
|
rs1358532856
|
0.00001
|
NM_000199.5(SGSH):c.950-12C>T
|
rs1334931070
|
0.00001
|
NM_000199.5(SGSH):c.957G>A (p.Thr319=)
|
rs780403434
|
0.00001
|
NM_000199.5(SGSH):c.96C>T (p.Asp32=)
|
rs139850991
|
0.00001
|
NM_000199.5(SGSH):c.993C>T (p.Pro331=)
|
rs934982826
|
0.00001
|
NM_000199.5(SGSH):c.996C>T (p.Ser332=)
|
rs1452808824
|
0.00001
|
NM_000202.8(IDS):c.1007-4C>T
|
rs781947914
|
0.00001
|
NM_000202.8(IDS):c.1007-9A>G
|
rs927728129
|
0.00001
|
NM_000202.8(IDS):c.103+12G>A
|
rs782156440
|
0.00001
|
NM_000202.8(IDS):c.1112C>T (p.Pro371Leu)
|
rs782471629
|
0.00001
|
NM_000202.8(IDS):c.1128G>A (p.Lys376=)
|
rs1266043821
|
0.00001
|
NM_000202.8(IDS):c.114C>T (p.Asn38=)
|
rs149512799
|
0.00001
|
NM_000202.8(IDS):c.1164A>G (p.Ser388=)
|
rs782363616
|
0.00001
|
NM_000202.8(IDS):c.1180+10A>G
|
rs1173314448
|
0.00001
|
NM_000202.8(IDS):c.1181-19C>G
|
rs1557337665
|
0.00001
|
NM_000202.8(IDS):c.1254T>G (p.Val418=)
|
rs1557337653
|
0.00001
|
NM_000202.8(IDS):c.1257A>G (p.Pro419=)
|
rs782066597
|
0.00001
|
NM_000202.8(IDS):c.1353G>A (p.Pro451=)
|
rs920711197
|
0.00001
|
NM_000202.8(IDS):c.1477C>T (p.Arg493Cys)
|
rs782190885
|
0.00001
|
NM_000202.8(IDS):c.1536T>A (p.Ala512=)
|
rs782673868
|
0.00001
|
NM_000202.8(IDS):c.1623T>G (p.Gly541=)
|
rs1557337565
|
0.00001
|
NM_000202.8(IDS):c.18C>T (p.Thr6=)
|
rs369954416
|
0.00001
|
NM_000202.8(IDS):c.198A>G (p.Gln66=)
|
rs1557340398
|
0.00001
|
NM_000202.8(IDS):c.237G>A (p.Ala79=)
|
rs782183418
|
0.00001
|
NM_000202.8(IDS):c.252C>T (p.Cys84=)
|
rs1557340286
|
0.00001
|
NM_000202.8(IDS):c.285G>A (p.Arg95=)
|
rs782779732
|
0.00001
|
NM_000202.8(IDS):c.34T>C (p.Trp12Arg)
|
rs1557340598
|
0.00001
|
NM_000202.8(IDS):c.419-6T>C
|
rs1243973593
|
0.00001
|
NM_000202.8(IDS):c.504T>A (p.Thr168=)
|
rs1557339882
|
0.00001
|
NM_000202.8(IDS):c.51G>C (p.Leu17=)
|
rs1352041987
|
0.00001
|
NM_000202.8(IDS):c.709-5C>T
|
rs970568454
|
0.00001
|
NM_000202.8(IDS):c.807C>T (p.Asp269=)
|
rs1557339297
|
0.00001
|
NM_000202.8(IDS):c.889C>T (p.Arg297Cys)
|
rs782408729
|
0.00001
|
NM_000202.8(IDS):c.906C>G (p.Ala302=)
|
rs1227669625
|
0.00001
|
NM_000202.8(IDS):c.933C>T (p.Val311=)
|
rs782608372
|
0.00001
|
NM_000203.5(IDUA):c.1032G>A (p.Ala344=)
|
rs959994477
|
0.00001
|
NM_000203.5(IDUA):c.1050T>C (p.Asn350=)
|
rs769373163
|
0.00001
|
NM_000203.5(IDUA):c.1056C>T (p.Phe352=)
|
rs776110061
|
0.00001
|
NM_000203.5(IDUA):c.1074C>T (p.His358=)
|
rs1171720920
|
0.00001
|
NM_000203.5(IDUA):c.1128G>A (p.Pro376=)
|
rs768841506
|
0.00001
|
NM_000203.5(IDUA):c.1152G>A (p.Lys384=)
|
rs1244370377
|
0.00001
|
NM_000203.5(IDUA):c.1185G>A (p.Leu395=)
|
rs1355543480
|
0.00001
|
NM_000203.5(IDUA):c.1186C>T (p.Leu396=)
|
rs1011474273
|
0.00001
|
NM_000203.5(IDUA):c.1190-7C>T
|
rs1715175188
|
0.00001
|
NM_000203.5(IDUA):c.1209C>G (p.Ala403=)
|
rs990733414
|
0.00001
|
NM_000203.5(IDUA):c.1260C>T (p.Val420=)
|
rs1715182456
|
0.00001
|
NM_000203.5(IDUA):c.1311G>C (p.Ala437=)
|
rs899295679
|
0.00001
|
NM_000203.5(IDUA):c.1335C>T (p.Asp445=)
|
rs1358484457
|
0.00001
|
NM_000203.5(IDUA):c.1356C>T (p.Arg452=)
|
rs1715191739
|
0.00001
|
NM_000203.5(IDUA):c.1389G>A (p.Val463=)
|
rs1207419868
|
0.00001
|
NM_000203.5(IDUA):c.138C>T (p.Phe46=)
|
rs1238977070
|
0.00001
|
NM_000203.5(IDUA):c.1398C>T (p.Gly466=)
|
rs1370338557
|
0.00001
|
NM_000203.5(IDUA):c.1402+9G>T
|
rs748677471
|
0.00001
|
NM_000203.5(IDUA):c.1403-11A>G
|
rs1335436961
|
0.00001
|
NM_000203.5(IDUA):c.1525-15G>A
|
rs755037135
|
0.00001
|
NM_000203.5(IDUA):c.1536C>T (p.Ala512=)
|
rs1392263774
|
0.00001
|
NM_000203.5(IDUA):c.1551C>T (p.Pro517=)
|
rs892707514
|
0.00001
|
NM_000203.5(IDUA):c.1563C>T (p.Gly521=)
|
rs1272602930
|
0.00001
|
NM_000203.5(IDUA):c.1566C>T (p.Gly522=)
|
rs1378890744
|
0.00001
|
NM_000203.5(IDUA):c.1575C>T (p.Thr525=)
|
rs1715239254
|
0.00001
|
NM_000203.5(IDUA):c.158+8C>T
|
rs1210900840
|
0.00001
|
NM_000203.5(IDUA):c.1617C>T (p.His539=)
|
rs774854847
|
0.00001
|
NM_000203.5(IDUA):c.162C>A (p.Pro54=)
|
rs1378930636
|
0.00001
|
NM_000203.5(IDUA):c.1650+10A>G
|
rs751765707
|
0.00001
|
NM_000203.5(IDUA):c.1651-7_1651-3dup
|
rs756443835
|
0.00001
|
NM_000203.5(IDUA):c.1653C>G (p.Val551=)
|
rs367551201
|
0.00001
|
NM_000203.5(IDUA):c.1665C>T (p.Arg555=)
|
rs761466989
|
0.00001
|
NM_000203.5(IDUA):c.1674C>A (p.Pro558=)
|
rs767943753
|
0.00001
|
NM_000203.5(IDUA):c.1727+14G>A
|
rs781039620
|
0.00001
|
NM_000203.5(IDUA):c.1728-13C>T
|
rs764889867
|
0.00001
|
NM_000203.5(IDUA):c.1755C>T (p.Phe585=)
|
rs1457677853
|
0.00001
|
NM_000203.5(IDUA):c.1785C>T (p.Val595=)
|
rs748579220
|
0.00001
|
NM_000203.5(IDUA):c.1794G>A (p.Lys598=)
|
rs770035538
|
0.00001
|
NM_000203.5(IDUA):c.1803C>T (p.Thr601=)
|
rs774370803
|
0.00001
|
NM_000203.5(IDUA):c.1821C>T (p.Phe607=)
|
rs752523518
|
0.00001
|
NM_000203.5(IDUA):c.1828+10C>G
|
rs201851203
|
0.00001
|
NM_000203.5(IDUA):c.1929G>A (p.Val643=)
|
rs147163995
|
0.00001
|
NM_000203.5(IDUA):c.192C>T (p.Tyr64=)
|
rs121965022
|
0.00001
|
NM_000203.5(IDUA):c.198C>G (p.Leu66=)
|
rs773925781
|
0.00001
|
NM_000203.5(IDUA):c.222C>T (p.Leu74=)
|
rs750898638
|
0.00001
|
NM_000203.5(IDUA):c.249C>T (p.Arg83=)
|
rs765563471
|
0.00001
|
NM_000203.5(IDUA):c.255C>T (p.Ile85=)
|
rs983913564
|
0.00001
|
NM_000203.5(IDUA):c.300-5T>C
|
rs760649049
|
0.00001
|
NM_000203.5(IDUA):c.303G>C (p.Gly101=)
|
rs753784242
|
0.00001
|
NM_000203.5(IDUA):c.345C>T (p.Asp115=)
|
rs760987501
|
0.00001
|
NM_000203.5(IDUA):c.354G>C (p.Leu118=)
|
rs1207917122
|
0.00001
|
NM_000203.5(IDUA):c.357C>T (p.Asp119=)
|
rs1262464994
|
0.00001
|
NM_000203.5(IDUA):c.366G>A (p.Arg122=)
|
rs1428860307
|
0.00001
|
NM_000203.5(IDUA):c.369G>A (p.Glu123=)
|
rs1314132117
|
0.00001
|
NM_000203.5(IDUA):c.378C>T (p.Leu126=)
|
rs751124890
|
0.00001
|
NM_000203.5(IDUA):c.386-7G>A
|
rs1047377009
|
0.00001
|
NM_000203.5(IDUA):c.39C>T (p.Leu13=)
|
rs1335015335
|
0.00001
|
NM_000203.5(IDUA):c.468C>T (p.Val156=)
|
rs763532209
|
0.00001
|
NM_000203.5(IDUA):c.489C>T (p.Tyr163=)
|
rs1269229840
|
0.00001
|
NM_000203.5(IDUA):c.504A>C (p.Gly168=)
|
rs1489276333
|
0.00001
|
NM_000203.5(IDUA):c.522G>A (p.Lys174=)
|
rs939618645
|
0.00001
|
NM_000203.5(IDUA):c.528C>T (p.Asn176=)
|
rs538650622
|
0.00001
|
NM_000203.5(IDUA):c.534G>A (p.Glu178=)
|
rs762533612
|
0.00001
|
NM_000203.5(IDUA):c.571G>C (p.Val191Leu)
|
rs746908649
|
0.00001
|
NM_000203.5(IDUA):c.590-10C>T
|
rs1193288754
|
0.00001
|
NM_000203.5(IDUA):c.609T>C (p.Asp203=)
|
rs1577539347
|
0.00001
|
NM_000203.5(IDUA):c.648G>A (p.Leu216=)
|
rs1289155564
|
0.00001
|
NM_000203.5(IDUA):c.672C>T (p.Ser224=)
|
rs1355304778
|
0.00001
|
NM_000203.5(IDUA):c.693C>T (p.Ser231=)
|
rs529773032
|
0.00001
|
NM_000203.5(IDUA):c.744C>T (p.Phe248=)
|
rs775908560
|
0.00001
|
NM_000203.5(IDUA):c.756G>A (p.Ala252=)
|
rs776670337
|
0.00001
|
NM_000203.5(IDUA):c.757G>T (p.Gly253Cys)
|
rs546933529
|
0.00001
|
NM_000203.5(IDUA):c.789G>A (p.Arg263=)
|
rs1191147769
|
0.00001
|
NM_000203.5(IDUA):c.792+7C>A
|
rs1577539934
|
0.00001
|
NM_000203.5(IDUA):c.792+9T>C
|
rs1477707256
|
0.00001
|
NM_000203.5(IDUA):c.793-4G>T
|
rs773734796
|
0.00001
|
NM_000203.5(IDUA):c.793-8G>A
|
rs1360168258
|
0.00001
|
NM_000203.5(IDUA):c.801C>T (p.Arg267=)
|
rs751167219
|
0.00001
|
NM_000203.5(IDUA):c.810C>T (p.Ile270=)
|
rs1241791378
|
0.00001
|
NM_000203.5(IDUA):c.813C>T (p.Ser271=)
|
rs569215528
|
0.00001
|
NM_000203.5(IDUA):c.822G>A (p.Glu274=)
|
rs1160519179
|
0.00001
|
NM_000203.5(IDUA):c.91C>T (p.Leu31=)
|
rs1257215898
|
0.00001
|
NM_000203.5(IDUA):c.933G>A (p.Pro311=)
|
rs1441908136
|
0.00001
|
NM_000203.5(IDUA):c.945C>T (p.Asp315=)
|
rs1256735931
|
0.00001
|
NM_000203.5(IDUA):c.948G>T (p.Val316=)
|
rs1463496008
|
0.00001
|
NM_000203.5(IDUA):c.969G>A (p.Val323=)
|
rs1344410522
|
0.00001
|
NM_000203.5(IDUA):c.972+8G>A
|
rs774327124
|
0.00001
|
NM_000262.3(NAGA):c.1102-14C>A
|
rs377439996
|
0.00001
|
NM_000262.3(NAGA):c.12G>A (p.Lys4=)
|
rs776865602
|
0.00001
|
NM_000262.3(NAGA):c.132G>A (p.Glu44=)
|
rs1306749721
|
0.00001
|
NM_000262.3(NAGA):c.486C>T (p.Pro162=)
|
rs760003063
|
0.00001
|
NM_000262.3(NAGA):c.502+9C>T
|
rs768462917
|
0.00001
|
NM_000262.3(NAGA):c.549C>T (p.Ile183=)
|
rs374984089
|
0.00001
|
NM_000262.3(NAGA):c.822G>A (p.Thr274=)
|
rs765604983
|
0.00001
|
NM_000262.3(NAGA):c.957+7G>A
|
rs1193330730
|
0.00001
|
NM_000263.4(NAGLU):c.1022-10C>T
|
rs1314987679
|
0.00001
|
NM_000263.4(NAGLU):c.1022-4A>G
|
rs748016637
|
0.00001
|
NM_000263.4(NAGLU):c.1032G>A (p.Glu344=)
|
rs771833491
|
0.00001
|
NM_000263.4(NAGLU):c.105C>T (p.Leu35=)
|
rs954871115
|
0.00001
|
NM_000263.4(NAGLU):c.1086G>A (p.Gly362=)
|
rs754413995
|
0.00001
|
NM_000263.4(NAGLU):c.1089C>G (p.Pro363=)
|
rs778956418
|
0.00001
|
NM_000263.4(NAGLU):c.1107G>T (p.Val369=)
|
rs1479965895
|
0.00001
|
NM_000263.4(NAGLU):c.1113A>G (p.Gly371=)
|
rs1469438575
|
0.00001
|
NM_000263.4(NAGLU):c.1124G>A (p.Arg375His)
|
rs768600049
|
0.00001
|
NM_000263.4(NAGLU):c.114G>C (p.Arg38=)
|
rs2092906079
|
0.00001
|
NM_000263.4(NAGLU):c.1200G>A (p.Gln400=)
|
rs752682040
|
0.00001
|
NM_000263.4(NAGLU):c.1224C>T (p.His408=)
|
rs780376108
|
0.00001
|
NM_000263.4(NAGLU):c.1308C>T (p.Ser436=)
|
rs775035658
|
0.00001
|
NM_000263.4(NAGLU):c.1326C>A (p.Gly442=)
|
rs757069066
|
0.00001
|
NM_000263.4(NAGLU):c.1353C>T (p.Asn451=)
|
rs200029453
|
0.00001
|
NM_000263.4(NAGLU):c.135G>C (p.Ala45=)
|
rs2092906139
|
0.00001
|
NM_000263.4(NAGLU):c.1368C>T (p.Ser456=)
|
rs762502127
|
0.00001
|
NM_000263.4(NAGLU):c.1437C>T (p.Ala479=)
|
rs752918057
|
0.00001
|
NM_000263.4(NAGLU):c.144C>T (p.Phe48=)
|
rs104894599
|
0.00001
|
NM_000263.4(NAGLU):c.147C>T (p.Ser49=)
|
rs1312501106
|
0.00001
|
NM_000263.4(NAGLU):c.1548G>A (p.Pro516=)
|
rs1318650686
|
0.00001
|
NM_000263.4(NAGLU):c.159G>A (p.Glu53=)
|
rs910639529
|
0.00001
|
NM_000263.4(NAGLU):c.1605T>C (p.Asp535=)
|
rs1439979743
|
0.00001
|
NM_000263.4(NAGLU):c.1671C>A (p.Arg557=)
|
rs1287450896
|
0.00001
|
NM_000263.4(NAGLU):c.1722G>A (p.Leu574=)
|
rs1179779613
|
0.00001
|
NM_000263.4(NAGLU):c.1743C>T (p.Ser581=)
|
rs1410332176
|
0.00001
|
NM_000263.4(NAGLU):c.1746C>T (p.Ala582=)
|
rs1368697056
|
0.00001
|
NM_000263.4(NAGLU):c.1771C>T (p.Leu591=)
|
rs749025581
|
0.00001
|
NM_000263.4(NAGLU):c.180G>A (p.Pro60=)
|
rs1449219265
|
0.00001
|
NM_000263.4(NAGLU):c.1992G>A (p.Ala664=)
|
rs748402226
|
0.00001
|
NM_000263.4(NAGLU):c.1996T>C (p.Leu666=)
|
rs1397893429
|
0.00001
|
NM_000263.4(NAGLU):c.2013C>T (p.Tyr671=)
|
rs934112717
|
0.00001
|
NM_000263.4(NAGLU):c.2016C>T (p.Thr672=)
|
rs1438567691
|
0.00001
|
NM_000263.4(NAGLU):c.228G>A (p.Arg76=)
|
rs1220553522
|
0.00001
|
NM_000263.4(NAGLU):c.231G>C (p.Val77=)
|
rs949225882
|
0.00001
|
NM_000263.4(NAGLU):c.261G>C (p.Ala87=)
|
rs1452325580
|
0.00001
|
NM_000263.4(NAGLU):c.270C>T (p.His90=)
|
rs1360267129
|
0.00001
|
NM_000263.4(NAGLU):c.276C>T (p.Tyr92=)
|
rs753801626
|
0.00001
|
NM_000263.4(NAGLU):c.351G>T (p.Val117=)
|
rs1436378685
|
0.00001
|
NM_000263.4(NAGLU):c.384-16A>T
|
rs768251683
|
0.00001
|
NM_000263.4(NAGLU):c.384-8G>A
|
rs746106558
|
0.00001
|
NM_000263.4(NAGLU):c.387C>T (p.Tyr129=)
|
rs1453761645
|
0.00001
|
NM_000263.4(NAGLU):c.408C>T (p.Cys136=)
|
rs750741772
|
0.00001
|
NM_000263.4(NAGLU):c.411G>A (p.Thr137=)
|
rs1464521532
|
0.00001
|
NM_000263.4(NAGLU):c.459G>A (p.Glu153=)
|
rs746876753
|
0.00001
|
NM_000263.4(NAGLU):c.48C>T (p.Ala16=)
|
rs1312488945
|
0.00001
|
NM_000263.4(NAGLU):c.645C>T (p.Pro215=)
|
rs2092912974
|
0.00001
|
NM_000263.4(NAGLU):c.679-15C>T
|
rs376430265
|
0.00001
|
NM_000263.4(NAGLU):c.708C>T (p.Phe236=)
|
rs770221835
|
0.00001
|
NM_000263.4(NAGLU):c.720A>T (p.Pro240=)
|
rs892493572
|
0.00001
|
NM_000263.4(NAGLU):c.735C>T (p.Phe245=)
|
rs539646032
|
0.00001
|
NM_000263.4(NAGLU):c.753G>A (p.Glu251=)
|
rs367604063
|
0.00001
|
NM_000263.4(NAGLU):c.764+12C>G
|
rs1002650158
|
0.00001
|
NM_000263.4(NAGLU):c.764+15A>G
|
rs1419186153
|
0.00001
|
NM_000263.4(NAGLU):c.783T>C (p.Asn261=)
|
rs1275689779
|
0.00001
|
NM_000263.4(NAGLU):c.871A>C (p.Ile291Leu)
|
rs199625480
|
0.00001
|
NM_000263.4(NAGLU):c.894G>A (p.Glu298=)
|
rs746626709
|
0.00001
|
NM_000263.4(NAGLU):c.909T>C (p.Phe303=)
|
rs140386564
|
0.00001
|
NM_000263.4(NAGLU):c.999C>T (p.Ala333=)
|
rs959173039
|
0.00001
|
NM_000284.4(PDHA1):c.1083G>A (p.Leu361=)
|
rs745312753
|
0.00001
|
NM_000284.4(PDHA1):c.117+9T>G
|
rs763924525
|
0.00001
|
NM_000284.4(PDHA1):c.292-23A>G
|
rs1057518702
|
0.00001
|
NM_000284.4(PDHA1):c.30C>T (p.Arg10=)
|
rs1425138915
|
0.00001
|
NM_000284.4(PDHA1):c.333A>G (p.Thr111=)
|
rs1198119577
|
0.00001
|
NM_000284.4(PDHA1):c.411G>A (p.Glu137=)
|
rs1301075698
|
0.00001
|
NM_000284.4(PDHA1):c.419-8A>G
|
rs769681451
|
0.00001
|
NM_000284.4(PDHA1):c.477C>T (p.Asn159=)
|
rs2063173885
|
0.00001
|
NM_000284.4(PDHA1):c.511-6T>C
|
rs1438332782
|
0.00001
|
NM_000284.4(PDHA1):c.696T>C (p.Ser232=)
|
rs764871850
|
0.00001
|
NM_000284.4(PDHA1):c.699T>C (p.Val233=)
|
rs1279461531
|
0.00001
|
NM_000284.4(PDHA1):c.702G>A (p.Glu234=)
|
rs1312669828
|
0.00001
|
NM_000284.4(PDHA1):c.756G>A (p.Leu252=)
|
rs768600287
|
0.00001
|
NM_000284.4(PDHA1):c.873A>T (p.Gly291=)
|
rs1248347868
|
0.00001
|
NM_000284.4(PDHA1):c.899+4C>T
|
rs749903004
|
0.00001
|
NM_000284.4(PDHA1):c.900-10C>A
|
rs370163447
|
0.00001
|
NM_000284.4(PDHA1):c.903C>T (p.Tyr301=)
|
rs1432211611
|
0.00001
|
NM_000284.4(PDHA1):c.948T>A (p.Pro316=)
|
rs759443348
|
0.00001
|
NM_000289.6(PFKM):c.1005A>G (p.Val335=)
|
rs1454843075
|
0.00001
|
NM_000289.6(PFKM):c.1014C>G (p.Leu338=)
|
rs745952414
|
0.00001
|
NM_000289.6(PFKM):c.103A>C (p.Arg35=)
|
rs1057522048
|
0.00001
|
NM_000289.6(PFKM):c.1041C>T (p.Pro347=)
|
rs1350163599
|
0.00001
|
NM_000289.6(PFKM):c.1104C>T (p.Asp368=)
|
rs151045985
|
0.00001
|
NM_000289.6(PFKM):c.1149G>A (p.Glu383=)
|
rs765367927
|
0.00001
|
NM_000289.6(PFKM):c.1192-16G>A
|
rs756542348
|
0.00001
|
NM_000289.6(PFKM):c.1192-4A>G
|
rs1320880960
|
0.00001
|
NM_000289.6(PFKM):c.1192-7T>C
|
rs1445315219
|
0.00001
|
NM_000289.6(PFKM):c.123T>C (p.Gly41=)
|
rs756442663
|
0.00001
|
NM_000289.6(PFKM):c.1242C>G (p.Gly414=)
|
rs886049454
|
0.00001
|
NM_000289.6(PFKM):c.1260C>T (p.Arg420=)
|
rs756454146
|
0.00001
|
NM_000289.6(PFKM):c.1275T>C (p.Ile425=)
|
rs1592789738
|
0.00001
|
NM_000289.6(PFKM):c.129C>T (p.Phe43=)
|
rs1181855702
|
0.00001
|
NM_000289.6(PFKM):c.132C>T (p.Thr44=)
|
rs780240624
|
0.00001
|
NM_000289.6(PFKM):c.1374C>G (p.Gly458=)
|
rs765683112
|
0.00001
|
NM_000289.6(PFKM):c.138C>T (p.Ala46=)
|
rs1413157674
|
0.00001
|
NM_000289.6(PFKM):c.1455A>C (p.Ile485=)
|
rs1404730324
|
0.00001
|
NM_000289.6(PFKM):c.159+10G>A
|
rs772752063
|
0.00001
|
NM_000289.6(PFKM):c.1599C>T (p.Val533=)
|
rs1308260209
|
0.00001
|
NM_000289.6(PFKM):c.160-11G>C
|
rs770427697
|
0.00001
|
NM_000289.6(PFKM):c.1617C>T (p.Ser539=)
|
rs371605516
|
0.00001
|
NM_000289.6(PFKM):c.1653+10T>C
|
rs1355868874
|
0.00001
|
NM_000289.6(PFKM):c.1761A>G (p.Ala587=)
|
rs1950696961
|
0.00001
|
NM_000289.6(PFKM):c.1818+10C>T
|
rs774040508
|
0.00001
|
NM_000289.6(PFKM):c.1857T>C (p.Thr619=)
|
rs762229855
|
0.00001
|
NM_000289.6(PFKM):c.1908C>T (p.Thr636=)
|
rs748755500
|
0.00001
|
NM_000289.6(PFKM):c.1980T>A (p.Gly660=)
|
rs1180149962
|
0.00001
|
NM_000289.6(PFKM):c.1993-6C>T
|
rs1258118168
|
0.00001
|
NM_000289.6(PFKM):c.2034G>A (p.Lys678=)
|
rs1426948180
|
0.00001
|
NM_000289.6(PFKM):c.2093-9T>G
|
rs1425536614
|
0.00001
|
NM_000289.6(PFKM):c.216C>T (p.Ser72=)
|
rs760812841
|
0.00001
|
NM_000289.6(PFKM):c.2199-4G>A
|
rs1195176028
|
0.00001
|
NM_000289.6(PFKM):c.222G>A (p.Ser74=)
|
rs754074132
|
0.00001
|
NM_000289.6(PFKM):c.2292T>C (p.His764=)
|
rs765145687
|
0.00001
|
NM_000289.6(PFKM):c.2325C>T (p.Ser775=)
|
rs780497709
|
0.00001
|
NM_000289.6(PFKM):c.237+10A>G
|
rs753085406
|
0.00001
|
NM_000289.6(PFKM):c.238-9C>T
|
rs1410090927
|
0.00001
|
NM_000289.6(PFKM):c.276T>C (p.Phe92=)
|
rs1479575063
|
0.00001
|
NM_000289.6(PFKM):c.318G>A (p.Val106=)
|
rs775680284
|
0.00001
|
NM_000289.6(PFKM):c.333C>T (p.Thr111=)
|
rs767919774
|
0.00001
|
NM_000289.6(PFKM):c.36G>A (p.Leu12=)
|
rs765868040
|
0.00001
|
NM_000289.6(PFKM):c.375T>C (p.Ala125=)
|
rs748925843
|
0.00001
|
NM_000289.6(PFKM):c.384C>T (p.Phe128=)
|
rs771979702
|
0.00001
|
NM_000289.6(PFKM):c.393G>A (p.Glu131=)
|
rs1949678398
|
0.00001
|
NM_000289.6(PFKM):c.428-5G>A
|
rs530415874
|
0.00001
|
NM_000289.6(PFKM):c.477G>T (p.Val159=)
|
rs1409128392
|
0.00001
|
NM_000289.6(PFKM):c.546G>A (p.Leu182=)
|
rs779095033
|
0.00001
|
NM_000289.6(PFKM):c.570T>C (p.Asp190=)
|
rs761133325
|
0.00001
|
NM_000289.6(PFKM):c.638+20C>T
|
rs901548166
|
0.00001
|
NM_000289.6(PFKM):c.66C>G (p.Thr22=)
|
rs995717911
|
0.00001
|
NM_000289.6(PFKM):c.675C>T (p.Ala225=)
|
rs1368560997
|
0.00001
|
NM_000289.6(PFKM):c.711C>T (p.Asp237=)
|
rs768094970
|
0.00001
|
NM_000289.6(PFKM):c.825C>T (p.Thr275=)
|
rs1173987256
|
0.00001
|
NM_000289.6(PFKM):c.844-4T>C
|
rs1366950106
|
0.00001
|
NM_000289.6(PFKM):c.844-8C>T
|
rs1422456826
|
0.00001
|
NM_000289.6(PFKM):c.864A>G (p.Gly288=)
|
rs1313998695
|
0.00001
|
NM_000289.6(PFKM):c.888G>A (p.Leu296=)
|
rs753083173
|
0.00001
|
NM_000289.6(PFKM):c.927C>T (p.Asp309=)
|
rs752179477
|
0.00001
|
NM_000289.6(PFKM):c.987A>T (p.Pro329=)
|
rs932393961
|
0.00001
|
NM_000289.6(PFKM):c.993C>G (p.Thr331=)
|
rs754716303
|
0.00001
|
NM_000290.4(PGAM2):c.363C>T (p.Ile121=)
|
rs768642477
|
0.00001
|
NM_000290.4(PGAM2):c.90G>A (p.Leu30=)
|
rs759827542
|
0.00001
|
NM_000292.3(PHKA2):c.1245+9T>C
|
rs1462014190
|
0.00001
|
NM_000292.3(PHKA2):c.1460-5A>C
|
rs1409969328
|
0.00001
|
NM_000292.3(PHKA2):c.1793+8G>T
|
rs761684724
|
0.00001
|
NM_000292.3(PHKA2):c.1889A>G (p.Asn630Ser)
|
rs760621953
|
0.00001
|
NM_000292.3(PHKA2):c.2385C>G (p.Leu795=)
|
rs777278113
|
0.00001
|
NM_000292.3(PHKA2):c.2622A>G (p.Thr874=)
|
rs1249240827
|
0.00001
|
NM_000292.3(PHKA2):c.2868C>T (p.His956=)
|
rs779163512
|
0.00001
|
NM_000292.3(PHKA2):c.3189G>T (p.Arg1063=)
|
rs775954610
|
0.00001
|
NM_000292.3(PHKA2):c.3330C>T (p.Thr1110=)
|
rs749097024
|
0.00001
|
NM_000292.3(PHKA2):c.37G>A (p.Gly13Arg)
|
rs202065000
|
0.00001
|
NM_000293.3(PHKB):c.1121T>C (p.Ile374Thr)
|
rs78667243
|
0.00001
|
NM_000293.3(PHKB):c.1204+12T>G
|
rs1972080009
|
0.00001
|
NM_000293.3(PHKB):c.1514+18G>C
|
rs760376574
|
0.00001
|
NM_000293.3(PHKB):c.1716T>C (p.Thr572=)
|
rs746052855
|
0.00001
|
NM_000293.3(PHKB):c.1740C>T (p.Phe580=)
|
rs1279199570
|
0.00001
|
NM_000293.3(PHKB):c.1797+9G>A
|
rs746001808
|
0.00001
|
NM_000293.3(PHKB):c.1972-8C>T
|
rs759445171
|
0.00001
|
NM_000293.3(PHKB):c.1977A>T (p.Leu659=)
|
rs758601628
|
0.00001
|
NM_000293.3(PHKB):c.2106C>T (p.Thr702=)
|
rs1248967430
|
0.00001
|
NM_000293.3(PHKB):c.2186A>C (p.Gln729Pro)
|
rs573384357
|
0.00001
|
NM_000293.3(PHKB):c.2196+14A>G
|
rs751084282
|
0.00001
|
NM_000293.3(PHKB):c.2382C>T (p.Ser794=)
|
rs1463366667
|
0.00001
|
NM_000293.3(PHKB):c.2676A>G (p.Gly892=)
|
rs756848227
|
0.00001
|
NM_000293.3(PHKB):c.3042C>T (p.Pro1014=)
|
rs149234185
|
0.00001
|
NM_000293.3(PHKB):c.710+7T>G
|
rs976138000
|
0.00001
|
NM_000293.3(PHKB):c.77-7del
|
rs754758968
|
0.00001
|
NM_000294.3(PHKG2):c.1026G>A (p.Ala342=)
|
rs200852313
|
0.00001
|
NM_000294.3(PHKG2):c.192T>C (p.Pro64=)
|
rs372292588
|
0.00001
|
NM_000294.3(PHKG2):c.579T>C (p.Tyr193=)
|
rs992271371
|
0.00001
|
NM_000294.3(PHKG2):c.864C>T (p.His288=)
|
rs1336288802
|
0.00001
|
NM_000294.3(PHKG2):c.95+11G>A
|
rs886051910
|
0.00001
|
NM_000308.4(CTSA):c.-13C>A
|
rs748154467
|
0.00001
|
NM_000308.4(CTSA):c.1101C>T (p.Asn367=)
|
rs201234134
|
0.00001
|
NM_000308.4(CTSA):c.114C>G (p.Leu38=)
|
rs368879245
|
0.00001
|
NM_000308.4(CTSA):c.1152G>T (p.Leu384=)
|
rs745547045
|
0.00001
|
NM_000308.4(CTSA):c.1320C>T (p.Phe440=)
|
rs763420130
|
0.00001
|
NM_000308.4(CTSA):c.1356C>A (p.Ile452=)
|
rs1201030038
|
0.00001
|
NM_000308.4(CTSA):c.1365C>T (p.Ala455=)
|
rs369254598
|
0.00001
|
NM_000308.4(CTSA):c.195-7C>T
|
rs773860756
|
0.00001
|
NM_000308.4(CTSA):c.285C>G (p.Leu95=)
|
rs146382561
|
0.00001
|
NM_000308.4(CTSA):c.291G>A (p.Glu97=)
|
rs1986982141
|
0.00001
|
NM_000308.4(CTSA):c.414T>C (p.Asp138=)
|
rs755950061
|
0.00001
|
NM_000308.4(CTSA):c.445-19C>T
|
rs752702483
|
0.00001
|
NM_000308.4(CTSA):c.495G>A (p.Pro165=)
|
rs1350708938
|
0.00001
|
NM_000308.4(CTSA):c.525C>T (p.Thr175=)
|
rs1157339986
|
0.00001
|
NM_000308.4(CTSA):c.777+20T>C
|
rs564493992
|
0.00001
|
NM_000308.4(CTSA):c.840G>A (p.Pro280=)
|
rs576367740
|
0.00001
|
NM_000308.4(CTSA):c.869+14G>A
|
rs1041165015
|
0.00001
|
NM_000308.4(CTSA):c.869+9T>G
|
rs761952251
|
0.00001
|
NM_000340.2(SLC2A2):c.108+20G>A
|
rs1212350320
|
0.00001
|
NM_000340.2(SLC2A2):c.1560T>C (p.Ala520=)
|
rs755934523
|
0.00001
|
NM_000340.2(SLC2A2):c.240T>C (p.Pro80=)
|
rs756220231
|
0.00001
|
NM_000340.2(SLC2A2):c.499C>T (p.Leu167=)
|
rs764767259
|
0.00001
|
NM_000340.2(SLC2A2):c.951C>T (p.Ser317=)
|
rs1168244945
|
0.00001
|
NM_000343.4(SLC5A1):c.1149A>G (p.Leu383=)
|
rs781091733
|
0.00001
|
NM_000343.4(SLC5A1):c.1230C>T (p.Tyr410=)
|
rs200206252
|
0.00001
|
NM_000343.4(SLC5A1):c.1245G>A (p.Lys415=)
|
rs200577192
|
0.00001
|
NM_000343.4(SLC5A1):c.1314C>T (p.Ile438=)
|
rs1229387697
|
0.00001
|
NM_000343.4(SLC5A1):c.135+12G>T
|
rs927895146
|
0.00001
|
NM_000343.4(SLC5A1):c.1434G>A (p.Lys478=)
|
rs374997248
|
0.00001
|
NM_000343.4(SLC5A1):c.1716C>T (p.Asp572=)
|
rs1475148938
|
0.00001
|
NM_000343.4(SLC5A1):c.1740C>T (p.Ile580=)
|
rs200702605
|
0.00001
|
NM_000343.4(SLC5A1):c.1771+9T>C
|
rs995612487
|
0.00001
|
NM_000343.4(SLC5A1):c.207+19G>A
|
rs201259641
|
0.00001
|
NM_000343.4(SLC5A1):c.208-13T>A
|
rs200261297
|
0.00001
|
NM_000343.4(SLC5A1):c.30C>T (p.Thr10=)
|
rs750528703
|
0.00001
|
NM_000343.4(SLC5A1):c.334C>T (p.Leu112=)
|
rs1424187026
|
0.00001
|
NM_000343.4(SLC5A1):c.478-12C>T
|
rs1447609181
|
0.00001
|
NM_000343.4(SLC5A1):c.583+20C>A
|
rs757295052
|
0.00001
|
NM_000343.4(SLC5A1):c.609G>A (p.Thr203=)
|
rs200276021
|
0.00001
|
NM_000343.4(SLC5A1):c.738T>C (p.Asp246=)
|
rs1396640058
|
0.00001
|
NM_000343.4(SLC5A1):c.855C>T (p.Ile285=)
|
rs1471239456
|
0.00001
|
NM_000343.4(SLC5A1):c.886-10T>C
|
rs201709042
|
0.00001
|
NM_000343.4(SLC5A1):c.886-15G>A
|
rs2094005569
|
0.00001
|
NM_000343.4(SLC5A1):c.886-5G>C
|
rs763128374
|
0.00001
|
NM_000404.4(GLB1):c.1110A>G (p.Pro370=)
|
rs760325133
|
0.00001
|
NM_000404.4(GLB1):c.1122T>C (p.Tyr374=)
|
rs1407133452
|
0.00001
|
NM_000404.4(GLB1):c.1174C>T (p.Leu392=)
|
rs766318695
|
0.00001
|
NM_000404.4(GLB1):c.1176G>A (p.Leu392=)
|
rs776608131
|
0.00001
|
NM_000404.4(GLB1):c.1234-10T>G
|
rs774894435
|
0.00001
|
NM_000404.4(GLB1):c.1251G>A (p.Leu417=)
|
rs770133205
|
0.00001
|
NM_000404.4(GLB1):c.1317C>G (p.Val439=)
|
rs1449783767
|
0.00001
|
NM_000404.4(GLB1):c.1320C>T (p.His440=)
|
rs200390675
|
0.00001
|
NM_000404.4(GLB1):c.1326A>G (p.Arg442=)
|
rs953970172
|
0.00001
|
NM_000404.4(GLB1):c.1347+9C>T
|
rs753804013
|
0.00001
|
NM_000404.4(GLB1):c.1356G>A (p.Gln452=)
|
rs1360438550
|
0.00001
|
NM_000404.4(GLB1):c.141A>G (p.Pro47=)
|
rs1417933450
|
0.00001
|
NM_000404.4(GLB1):c.1480-4G>T
|
rs377063117
|
0.00001
|
NM_000404.4(GLB1):c.1480-8del
|
rs757882979
|
0.00001
|
NM_000404.4(GLB1):c.1518C>T (p.Leu506=)
|
rs748176346
|
0.00001
|
NM_000404.4(GLB1):c.1536T>C (p.Phe512=)
|
rs763651916
|
0.00001
|
NM_000404.4(GLB1):c.1572G>C (p.Leu524=)
|
rs765957868
|
0.00001
|
NM_000404.4(GLB1):c.1593C>T (p.Asp531=)
|
rs567562440
|
0.00001
|
NM_000404.4(GLB1):c.1638C>T (p.Tyr546=)
|
rs752092360
|
0.00001
|
NM_000404.4(GLB1):c.1861C>T (p.Leu621=)
|
rs748948967
|
0.00001
|
NM_000404.4(GLB1):c.1896A>G (p.Glu632=)
|
rs372915557
|
0.00001
|
NM_000404.4(GLB1):c.1914C>T (p.Phe638=)
|
rs545982076
|
0.00001
|
NM_000404.4(GLB1):c.1938A>G (p.Ser646=)
|
rs201051026
|
0.00001
|
NM_000404.4(GLB1):c.1950C>T (p.Tyr650=)
|
rs569787678
|
0.00001
|
NM_000404.4(GLB1):c.1983C>T (p.Leu661=)
|
rs747589996
|
0.00001
|
NM_000404.4(GLB1):c.1992A>G (p.Pro664=)
|
rs780675073
|
0.00001
|
NM_000404.4(GLB1):c.1995C>T (p.Pro665=)
|
rs1300459240
|
0.00001
|
NM_000404.4(GLB1):c.2031A>G (p.Val677=)
|
rs909928512
|
0.00001
|
NM_000404.4(GLB1):c.312G>A (p.Val104=)
|
rs113901133
|
0.00001
|
NM_000404.4(GLB1):c.336T>C (p.His112=)
|
rs201019449
|
0.00001
|
NM_000404.4(GLB1):c.366C>T (p.Pro122=)
|
rs769972414
|
0.00001
|
NM_000404.4(GLB1):c.426A>G (p.Lys142=)
|
rs768435736
|
0.00001
|
NM_000404.4(GLB1):c.534G>A (p.Gly178=)
|
rs928862880
|
0.00001
|
NM_000404.4(GLB1):c.561T>C (p.Asn187=)
|
rs1344460111
|
0.00001
|
NM_000404.4(GLB1):c.5C>G (p.Pro2Arg)
|
rs779544911
|
0.00001
|
NM_000404.4(GLB1):c.636G>A (p.Gly212=)
|
rs746141370
|
0.00001
|
NM_000404.4(GLB1):c.669A>G (p.Ala223=)
|
rs909129937
|
0.00001
|
NM_000404.4(GLB1):c.66C>T (p.Arg22=)
|
rs987707141
|
0.00001
|
NM_000404.4(GLB1):c.681C>T (p.Phe227=)
|
rs780608544
|
0.00001
|
NM_000404.4(GLB1):c.693G>T (p.Gly231=)
|
rs754493105
|
0.00001
|
NM_000404.4(GLB1):c.734-6T>A
|
rs1350583798
|
0.00001
|
NM_000404.4(GLB1):c.777G>A (p.Glu259=)
|
rs766528936
|
0.00001
|
NM_000404.4(GLB1):c.792+19G>A
|
rs745561290
|
0.00001
|
NM_000404.4(GLB1):c.837A>G (p.Gln279=)
|
rs1461790939
|
0.00001
|
NM_000404.4(GLB1):c.849A>C (p.Thr283=)
|
rs1238694687
|
0.00001
|
NM_000404.4(GLB1):c.915-10T>C
|
rs770317304
|
0.00001
|
NM_000404.4(GLB1):c.948T>C (p.Tyr316=)
|
rs754967848
|
0.00001
|
NM_000404.4(GLB1):c.972T>C (p.Tyr324=)
|
rs1342444418
|
0.00001
|
NM_000507.4(FBP1):c.324G>A (p.Pro108=)
|
rs745724824
|
0.00001
|
NM_000507.4(FBP1):c.639C>T (p.Asn213=)
|
rs762007074
|
0.00001
|
NM_000507.4(FBP1):c.777C>T (p.Tyr259=)
|
rs1435646320
|
0.00001
|
NM_000507.4(FBP1):c.978C>T (p.Leu326=)
|
rs774118438
|
0.00001
|
NM_000512.5(GALNS):c.1002+11G>A
|
rs777624961
|
0.00001
|
NM_000512.5(GALNS):c.1003-10T>C
|
rs753249472
|
0.00001
|
NM_000512.5(GALNS):c.1008C>T (p.Ser336=)
|
rs886052456
|
0.00001
|
NM_000512.5(GALNS):c.106C>T (p.Leu36=)
|
rs779849307
|
0.00001
|
NM_000512.5(GALNS):c.1125C>T (p.Gly375=)
|
rs773846201
|
0.00001
|
NM_000512.5(GALNS):c.1176G>A (p.Ala392=)
|
rs398123431
|
0.00001
|
NM_000512.5(GALNS):c.1182C>A (p.Thr394=)
|
rs1414082372
|
0.00001
|
NM_000512.5(GALNS):c.1230G>A (p.Glu410=)
|
rs567507214
|
0.00001
|
NM_000512.5(GALNS):c.1377C>T (p.Ala459=)
|
rs757704061
|
0.00001
|
NM_000512.5(GALNS):c.1461C>T (p.Asn487=)
|
rs1273463889
|
0.00001
|
NM_000512.5(GALNS):c.243A>G (p.Pro81=)
|
rs759476855
|
0.00001
|
NM_000512.5(GALNS):c.244+20G>A
|
rs373227121
|
0.00001
|
NM_000512.5(GALNS):c.320-13G>A
|
rs113186480
|
0.00001
|
NM_000512.5(GALNS):c.399C>T (p.Tyr133=)
|
rs761206910
|
0.00001
|
NM_000512.5(GALNS):c.422+17C>T
|
rs748212930
|
0.00001
|
NM_000512.5(GALNS):c.441C>T (p.Pro147=)
|
rs756456652
|
0.00001
|
NM_000512.5(GALNS):c.899-13C>T
|
rs938443899
|
0.00001
|
NM_000512.5(GALNS):c.987C>T (p.His329=)
|
rs750730964
|
0.00001
|
NM_000512.5(GALNS):c.993T>C (p.Thr331=)
|
rs762154863
|
0.00001
|
NM_000528.4(MAN2B1):c.1008C>A (p.Ile336=)
|
rs781438438
|
0.00001
|
NM_000528.4(MAN2B1):c.1020T>C (p.Asn340=)
|
rs1389459819
|
0.00001
|
NM_000528.4(MAN2B1):c.1026+7G>T
|
rs767145790
|
0.00001
|
NM_000528.4(MAN2B1):c.1026+8C>T
|
rs199908179
|
0.00001
|
NM_000528.4(MAN2B1):c.1044T>C (p.Ser348=)
|
rs765139571
|
0.00001
|
NM_000528.4(MAN2B1):c.1080C>G (p.Leu360=)
|
rs746182835
|
0.00001
|
NM_000528.4(MAN2B1):c.1188G>A (p.Pro396=)
|
rs749011134
|
0.00001
|
NM_000528.4(MAN2B1):c.1221C>T (p.Asn407=)
|
rs766462027
|
0.00001
|
NM_000528.4(MAN2B1):c.1230+7A>T
|
rs2024019411
|
0.00001
|
NM_000528.4(MAN2B1):c.1231-8G>T
|
rs773727577
|
0.00001
|
NM_000528.4(MAN2B1):c.1245G>A (p.Leu415=)
|
rs2024015718
|
0.00001
|
NM_000528.4(MAN2B1):c.1290C>T (p.Ser430=)
|
rs757526946
|
0.00001
|
NM_000528.4(MAN2B1):c.1309+10G>A
|
rs1424931652
|
0.00001
|
NM_000528.4(MAN2B1):c.1309+9C>T
|
rs756595469
|
0.00001
|
NM_000528.4(MAN2B1):c.1329C>A (p.Leu443=)
|
rs781687405
|
0.00001
|
NM_000528.4(MAN2B1):c.1341C>T (p.Asp447=)
|
rs529471612
|
0.00001
|
NM_000528.4(MAN2B1):c.1419+12G>A
|
rs755497429
|
0.00001
|
NM_000528.4(MAN2B1):c.1419+7G>C
|
rs1235244356
|
0.00001
|
NM_000528.4(MAN2B1):c.1419+8G>A
|
rs1427796893
|
0.00001
|
NM_000528.4(MAN2B1):c.1420-19C>A
|
rs1283596905
|
0.00001
|
NM_000528.4(MAN2B1):c.1440G>C (p.Leu480=)
|
rs1159688563
|
0.00001
|
NM_000528.4(MAN2B1):c.1527+7C>T
|
rs1214746235
|
0.00001
|
NM_000528.4(MAN2B1):c.1528-10G>A
|
rs561164635
|
0.00001
|
NM_000528.4(MAN2B1):c.1578A>T (p.Val526=)
|
rs768096085
|
0.00001
|
NM_000528.4(MAN2B1):c.159+20T>C
|
rs1258867565
|
0.00001
|
NM_000528.4(MAN2B1):c.1590C>T (p.Val530=)
|
rs528580176
|
0.00001
|
NM_000528.4(MAN2B1):c.1593C>T (p.Ser531=)
|
rs757131800
|
0.00001
|
NM_000528.4(MAN2B1):c.160-5T>C
|
rs902325469
|
0.00001
|
NM_000528.4(MAN2B1):c.162A>G (p.Thr54=)
|
rs1441130613
|
0.00001
|
NM_000528.4(MAN2B1):c.1645-7A>G
|
rs1384851767
|
0.00001
|
NM_000528.4(MAN2B1):c.165C>T (p.Cys55=)
|
rs1369828870
|
0.00001
|
NM_000528.4(MAN2B1):c.1695G>A (p.Leu565=)
|
rs748152945
|
0.00001
|
NM_000528.4(MAN2B1):c.1708C>T (p.Leu570=)
|
rs150479159
|
0.00001
|
NM_000528.4(MAN2B1):c.1713C>T (p.Pro571=)
|
rs747081586
|
0.00001
|
NM_000528.4(MAN2B1):c.1782G>A (p.Gln594=)
|
rs573996230
|
0.00001
|
NM_000528.4(MAN2B1):c.180G>A (p.Pro60=)
|
rs1043541354
|
0.00001
|
NM_000528.4(MAN2B1):c.1893G>T (p.Gln631His)
|
rs775247526
|
0.00001
|
NM_000528.4(MAN2B1):c.1953C>T (p.Asn651=)
|
rs547133035
|
0.00001
|
NM_000528.4(MAN2B1):c.1992C>T (p.Pro664=)
|
rs1207243486
|
0.00001
|
NM_000528.4(MAN2B1):c.201G>A (p.Leu67=)
|
rs1329607881
|
0.00001
|
NM_000528.4(MAN2B1):c.2043G>A (p.Val681=)
|
rs1459767457
|
0.00001
|
NM_000528.4(MAN2B1):c.2046+16T>G
|
rs747744607
|
0.00001
|
NM_000528.4(MAN2B1):c.2151G>A (p.Gly717=)
|
rs746606611
|
0.00001
|
NM_000528.4(MAN2B1):c.2165+8G>A
|
rs1318041798
|
0.00001
|
NM_000528.4(MAN2B1):c.2166-12C>G
|
rs771668348
|
0.00001
|
NM_000528.4(MAN2B1):c.2178G>A (p.Gly726=)
|
rs1475690846
|
0.00001
|
NM_000528.4(MAN2B1):c.2193C>T (p.Ser731=)
|
rs1396810329
|
0.00001
|
NM_000528.4(MAN2B1):c.2208G>A (p.Pro736=)
|
rs750890285
|
0.00001
|
NM_000528.4(MAN2B1):c.2226C>T (p.Arg742=)
|
rs774156075
|
0.00001
|
NM_000528.4(MAN2B1):c.2265G>A (p.Arg755=)
|
rs1177894927
|
0.00001
|
NM_000528.4(MAN2B1):c.2271G>T (p.Arg757=)
|
rs746029937
|
0.00001
|
NM_000528.4(MAN2B1):c.228C>T (p.Gly76=)
|
rs2024218273
|
0.00001
|
NM_000528.4(MAN2B1):c.240C>T (p.Thr80=)
|
rs772053358
|
0.00001
|
NM_000528.4(MAN2B1):c.2437-5C>G
|
rs200695002
|
0.00001
|
NM_000528.4(MAN2B1):c.2437-6C>T
|
rs1021381108
|
0.00001
|
NM_000528.4(MAN2B1):c.2478G>A (p.Ser826=)
|
rs958869615
|
0.00001
|
NM_000528.4(MAN2B1):c.2493G>A (p.Glu831=)
|
rs991095656
|
0.00001
|
NM_000528.4(MAN2B1):c.2499G>A (p.Gly833=)
|
rs886750475
|
0.00001
|
NM_000528.4(MAN2B1):c.2526C>T (p.His842=)
|
rs761344747
|
0.00001
|
NM_000528.4(MAN2B1):c.2547C>G (p.Ala849=)
|
rs1040271670
|
0.00001
|
NM_000528.4(MAN2B1):c.2583G>A (p.Glu861=)
|
rs778022209
|
0.00001
|
NM_000528.4(MAN2B1):c.2616C>T (p.Ala872=)
|
rs1211391418
|
0.00001
|
NM_000528.4(MAN2B1):c.2622T>C (p.Gly874=)
|
rs545541738
|
0.00001
|
NM_000528.4(MAN2B1):c.2661G>A (p.Thr887=)
|
rs775212002
|
0.00001
|
NM_000528.4(MAN2B1):c.2664+16G>A
|
rs1272824272
|
0.00001
|
NM_000528.4(MAN2B1):c.2676G>A (p.Leu892=)
|
rs750952284
|
0.00001
|
NM_000528.4(MAN2B1):c.2712G>C (p.Thr904=)
|
rs773210333
|
0.00001
|
NM_000528.4(MAN2B1):c.27G>C (p.Gly9=)
|
rs1428387159
|
0.00001
|
NM_000528.4(MAN2B1):c.2821-19C>T
|
rs1187808331
|
0.00001
|
NM_000528.4(MAN2B1):c.2856G>A (p.Gln952=)
|
rs1318861970
|
0.00001
|
NM_000528.4(MAN2B1):c.2877C>T (p.Asn959=)
|
rs544567546
|
0.00001
|
NM_000528.4(MAN2B1):c.2892A>G (p.Ala964=)
|
rs377438700
|
0.00001
|
NM_000528.4(MAN2B1):c.2961G>A (p.Pro987=)
|
rs369658144
|
0.00001
|
NM_000528.4(MAN2B1):c.3006C>A (p.Ala1002=)
|
rs2023694204
|
0.00001
|
NM_000528.4(MAN2B1):c.3024G>A (p.Glu1008=)
|
rs770441236
|
0.00001
|
NM_000528.4(MAN2B1):c.3033T>C (p.Gly1011=)
|
rs1388469279
|
0.00001
|
NM_000528.4(MAN2B1):c.321C>T (p.Ala107=)
|
rs200373194
|
0.00001
|
NM_000528.4(MAN2B1):c.354C>T (p.Tyr118=)
|
rs150012768
|
0.00001
|
NM_000528.4(MAN2B1):c.366C>G (p.Ala122=)
|
rs1258536041
|
0.00001
|
NM_000528.4(MAN2B1):c.402C>T (p.Ala134=)
|
rs1399051966
|
0.00001
|
NM_000528.4(MAN2B1):c.414C>T (p.Val138=)
|
rs1196427185
|
0.00001
|
NM_000528.4(MAN2B1):c.436+7C>T
|
rs769700077
|
0.00001
|
NM_000528.4(MAN2B1):c.437-8T>C
|
rs377203049
|
0.00001
|
NM_000528.4(MAN2B1):c.444G>C (p.Leu148=)
|
rs794727626
|
0.00001
|
NM_000528.4(MAN2B1):c.450C>T (p.Phe150=)
|
rs776494571
|
0.00001
|
NM_000528.4(MAN2B1):c.51C>T (p.Asp17=)
|
rs747792561
|
0.00001
|
NM_000528.4(MAN2B1):c.591C>T (p.Pro197=)
|
rs753665587
|
0.00001
|
NM_000528.4(MAN2B1):c.597C>T (p.Gly199=)
|
rs200872797
|
0.00001
|
NM_000528.4(MAN2B1):c.618G>A (p.Ser206=)
|
rs1287151465
|
0.00001
|
NM_000528.4(MAN2B1):c.630+9C>T
|
rs756927782
|
0.00001
|
NM_000528.4(MAN2B1):c.631-9C>T
|
rs756874617
|
0.00001
|
NM_000528.4(MAN2B1):c.75C>G (p.Ser25=)
|
rs1178249579
|
0.00001
|
NM_000528.4(MAN2B1):c.81C>T (p.Ala27=)
|
rs1407475487
|
0.00001
|
NM_000528.4(MAN2B1):c.822C>T (p.Val274=)
|
rs750447748
|
0.00001
|
NM_000528.4(MAN2B1):c.831G>A (p.Pro277=)
|
rs757417272
|
0.00001
|
NM_000528.4(MAN2B1):c.855C>T (p.Pro285=)
|
rs139218045
|
0.00001
|
NM_000528.4(MAN2B1):c.879C>T (p.Val293=)
|
rs746756800
|
0.00001
|
NM_000528.4(MAN2B1):c.889C>T (p.Leu297=)
|
rs771874603
|
0.00001
|
NM_000528.4(MAN2B1):c.906C>T (p.Ala302=)
|
rs749372996
|
0.00001
|
NM_000528.4(MAN2B1):c.915G>T (p.Arg305=)
|
rs755994517
|
0.00001
|
NM_000528.4(MAN2B1):c.927C>T (p.Thr309=)
|
rs759023914
|
0.00001
|
NM_000528.4(MAN2B1):c.945C>T (p.Thr315=)
|
rs2024099652
|
0.00001
|
NM_000528.4(MAN2B1):c.96C>T (p.Leu32=)
|
rs1253976874
|
0.00001
|
NM_000642.3(AGL):c.1071C>T (p.Phe357=)
|
rs1651362578
|
0.00001
|
NM_000642.3(AGL):c.1082+10G>A
|
rs190435682
|
0.00001
|
NM_000642.3(AGL):c.1082+8A>G
|
rs1375533728
|
0.00001
|
NM_000642.3(AGL):c.1083-4C>G
|
rs750423236
|
0.00001
|
NM_000642.3(AGL):c.108C>T (p.Gly36=)
|
rs374064723
|
0.00001
|
NM_000642.3(AGL):c.1137G>A (p.Glu379=)
|
rs1208595973
|
0.00001
|
NM_000642.3(AGL):c.1149A>G (p.Ser383=)
|
rs1651412702
|
0.00001
|
NM_000642.3(AGL):c.1191T>C (p.Val397=)
|
rs542462353
|
0.00001
|
NM_000642.3(AGL):c.1200T>C (p.Leu400=)
|
rs1651434860
|
0.00001
|
NM_000642.3(AGL):c.1218T>C (p.Tyr406=)
|
rs200607707
|
0.00001
|
NM_000642.3(AGL):c.1284-12A>C
|
rs886044918
|
0.00001
|
NM_000642.3(AGL):c.1293T>C (p.Thr431=)
|
rs750734739
|
0.00001
|
NM_000642.3(AGL):c.129A>G (p.Ala43=)
|
rs760568854
|
0.00001
|
NM_000642.3(AGL):c.1359T>C (p.Cys453=)
|
rs1486903759
|
0.00001
|
NM_000642.3(AGL):c.135C>T (p.Thr45=)
|
rs752964406
|
0.00001
|
NM_000642.3(AGL):c.1386A>C (p.Val462=)
|
rs201533331
|
0.00001
|
NM_000642.3(AGL):c.1432G>A (p.Val478Ile)
|
rs527819721
|
0.00001
|
NM_000642.3(AGL):c.1440A>G (p.Leu480=)
|
rs1012286863
|
0.00001
|
NM_000642.3(AGL):c.1455T>C (p.Ile485=)
|
rs375412979
|
0.00001
|
NM_000642.3(AGL):c.153A>G (p.Pro51=)
|
rs1263017347
|
0.00001
|
NM_000642.3(AGL):c.1612-5T>C
|
rs988791083
|
0.00001
|
NM_000642.3(AGL):c.1618T>C (p.Leu540=)
|
rs751245907
|
0.00001
|
NM_000642.3(AGL):c.1650A>G (p.Leu550=)
|
rs778806512
|
0.00001
|
NM_000642.3(AGL):c.1736-10T>C
|
rs1651931690
|
0.00001
|
NM_000642.3(AGL):c.1746T>C (p.Ser582=)
|
rs775280047
|
0.00001
|
NM_000642.3(AGL):c.1749A>G (p.Ala583=)
|
rs577669321
|
0.00001
|
NM_000642.3(AGL):c.1788T>C (p.Tyr596=)
|
rs777871903
|
0.00001
|
NM_000642.3(AGL):c.1797A>G (p.Glu599=)
|
rs757782780
|
0.00001
|
NM_000642.3(AGL):c.1842A>G (p.Pro614=)
|
rs1570443640
|
0.00001
|
NM_000642.3(AGL):c.1900-10T>C
|
rs1651974769
|
0.00001
|
NM_000642.3(AGL):c.1900-7C>T
|
rs1037923713
|
0.00001
|
NM_000642.3(AGL):c.2001+13G>A
|
rs765550969
|
0.00001
|
NM_000642.3(AGL):c.2002-5T>A
|
rs201718705
|
0.00001
|
NM_000642.3(AGL):c.2010G>A (p.Val670=)
|
rs1342629251
|
0.00001
|
NM_000642.3(AGL):c.2025G>A (p.Arg675=)
|
rs763377186
|
0.00001
|
NM_000642.3(AGL):c.2049A>G (p.Glu683=)
|
rs1015495997
|
0.00001
|
NM_000642.3(AGL):c.2082C>T (p.Phe694=)
|
rs1447806992
|
0.00001
|
NM_000642.3(AGL):c.2100A>G (p.Ala700=)
|
rs1176932146
|
0.00001
|
NM_000642.3(AGL):c.2160G>A (p.Val720=)
|
rs778526669
|
0.00001
|
NM_000642.3(AGL):c.2193A>G (p.Ala731=)
|
rs1652031034
|
0.00001
|
NM_000642.3(AGL):c.2199A>T (p.Thr733=)
|
rs775946126
|
0.00001
|
NM_000642.3(AGL):c.2308+11C>A
|
rs887815190
|
0.00001
|
NM_000642.3(AGL):c.2309-8A>G
|
rs1479026743
|
0.00001
|
NM_000642.3(AGL):c.231T>C (p.Ser77=)
|
rs1650046839
|
0.00001
|
NM_000642.3(AGL):c.2337T>C (p.Ala779=)
|
rs928189171
|
0.00001
|
NM_000642.3(AGL):c.2358G>A (p.Thr786=)
|
rs764022108
|
0.00001
|
NM_000642.3(AGL):c.2367T>C (p.Tyr789=)
|
rs766564503
|
0.00001
|
NM_000642.3(AGL):c.2370G>A (p.Arg790=)
|
rs1652265835
|
0.00001
|
NM_000642.3(AGL):c.2433+9G>A
|
rs775007907
|
0.00001
|
NM_000642.3(AGL):c.2481G>C (p.Gly827=)
|
rs1323938645
|
0.00001
|
NM_000642.3(AGL):c.2550T>C (p.Val850=)
|
rs750784772
|
0.00001
|
NM_000642.3(AGL):c.2571A>G (p.Gln857=)
|
rs373619867
|
0.00001
|
NM_000642.3(AGL):c.2574C>T (p.Val858=)
|
rs772038934
|
0.00001
|
NM_000642.3(AGL):c.2622T>C (p.Phe874=)
|
rs768045638
|
0.00001
|
NM_000642.3(AGL):c.2652A>G (p.Ala884=)
|
rs1164739409
|
0.00001
|
NM_000642.3(AGL):c.2763G>C (p.Gly921=)
|
rs765549237
|
0.00001
|
NM_000642.3(AGL):c.2769T>C (p.Tyr923=)
|
rs1440014744
|
0.00001
|
NM_000642.3(AGL):c.2812+7A>G
|
rs767206115
|
0.00001
|
NM_000642.3(AGL):c.2812+9A>G
|
rs1353678276
|
0.00001
|
NM_000642.3(AGL):c.294-6C>T
|
rs368295546
|
0.00001
|
NM_000642.3(AGL):c.2955T>C (p.Gly985=)
|
rs1383175689
|
0.00001
|
NM_000642.3(AGL):c.3012A>G (p.Pro1004=)
|
rs762797491
|
0.00001
|
NM_000642.3(AGL):c.3083+19G>C
|
rs772603921
|
0.00001
|
NM_000642.3(AGL):c.3102A>G (p.Ser1034=)
|
rs1467382297
|
0.00001
|
NM_000642.3(AGL):c.3124T>C (p.Leu1042=)
|
rs764821272
|
0.00001
|
NM_000642.3(AGL):c.3141G>T (p.Leu1047=)
|
rs756930451
|
0.00001
|
NM_000642.3(AGL):c.3144T>C (p.Cys1048=)
|
rs780770131
|
0.00001
|
NM_000642.3(AGL):c.3162T>C (p.Pro1054=)
|
rs1435765268
|
0.00001
|
NM_000642.3(AGL):c.318C>T (p.Tyr106=)
|
rs376885398
|
0.00001
|
NM_000642.3(AGL):c.3213T>C (p.Asn1071=)
|
rs765357864
|
0.00001
|
NM_000642.3(AGL):c.3237A>G (p.Gln1079=)
|
rs757615870
|
0.00001
|
NM_000642.3(AGL):c.3250C>T (p.Leu1084=)
|
rs1319052129
|
0.00001
|
NM_000642.3(AGL):c.3259+19G>A
|
rs1254775765
|
0.00001
|
NM_000642.3(AGL):c.3260-15T>A
|
rs772059039
|
0.00001
|
NM_000642.3(AGL):c.3260-6T>G
|
rs202158810
|
0.00001
|
NM_000642.3(AGL):c.3342T>C (p.Thr1114=)
|
rs369509822
|
0.00001
|
NM_000642.3(AGL):c.3396G>A (p.Arg1132=)
|
rs1215727446
|
0.00001
|
NM_000642.3(AGL):c.3399T>C (p.His1133=)
|
rs777488492
|
0.00001
|
NM_000642.3(AGL):c.3418C>T (p.Leu1140=)
|
rs1404079839
|
0.00001
|
NM_000642.3(AGL):c.3531C>T (p.Cys1177=)
|
rs1653766997
|
0.00001
|
NM_000642.3(AGL):c.3588+10T>C
|
rs761455023
|
0.00001
|
NM_000642.3(AGL):c.3589-17C>T
|
rs770871112
|
0.00001
|
NM_000642.3(AGL):c.360T>C (p.His120=)
|
rs763863707
|
0.00001
|
NM_000642.3(AGL):c.3642C>T (p.Gly1214=)
|
rs1261746082
|
0.00001
|
NM_000642.3(AGL):c.3705T>C (p.Phe1235=)
|
rs765902680
|
0.00001
|
NM_000642.3(AGL):c.3741T>C (p.Phe1247=)
|
rs1279212438
|
0.00001
|
NM_000642.3(AGL):c.3765T>C (p.Asn1255=)
|
rs1172247741
|
0.00001
|
NM_000642.3(AGL):c.3771C>T (p.Gly1257=)
|
rs760738241
|
0.00001
|
NM_000642.3(AGL):c.3894G>A (p.Leu1298=)
|
rs769025250
|
0.00001
|
NM_000642.3(AGL):c.3918C>T (p.Phe1306=)
|
rs574183079
|
0.00001
|
NM_000642.3(AGL):c.393A>G (p.Thr131=)
|
rs1244650534
|
0.00001
|
NM_000642.3(AGL):c.3972T>C (p.Tyr1324=)
|
rs768746665
|
0.00001
|
NM_000642.3(AGL):c.3978G>A (p.Glu1326=)
|
rs1372237275
|
0.00001
|
NM_000642.3(AGL):c.4026C>T (p.Ser1342=)
|
rs764186886
|
0.00001
|
NM_000642.3(AGL):c.4098T>C (p.Tyr1366=)
|
rs1245735298
|
0.00001
|
NM_000642.3(AGL):c.4146C>T (p.Thr1382=)
|
rs767272437
|
0.00001
|
NM_000642.3(AGL):c.4212A>C (p.Ala1404=)
|
rs766097240
|
0.00001
|
NM_000642.3(AGL):c.4236T>C (p.Leu1412=)
|
rs764366057
|
0.00001
|
NM_000642.3(AGL):c.4308C>T (p.Asn1436=)
|
rs773138600
|
0.00001
|
NM_000642.3(AGL):c.4341A>G (p.Gln1447=)
|
rs376486225
|
0.00001
|
NM_000642.3(AGL):c.4344A>C (p.Gly1448=)
|
rs373302638
|
0.00001
|
NM_000642.3(AGL):c.4347+16A>G
|
rs562398608
|
0.00001
|
NM_000642.3(AGL):c.4348-7T>G
|
rs1328440937
|
0.00001
|
NM_000642.3(AGL):c.4356G>A (p.Leu1452=)
|
rs764387845
|
0.00001
|
NM_000642.3(AGL):c.4362T>C (p.Pro1454=)
|
rs886044922
|
0.00001
|
NM_000642.3(AGL):c.4368G>A (p.Gly1456=)
|
rs749989508
|
0.00001
|
NM_000642.3(AGL):c.4443T>G (p.Val1481=)
|
rs763400653
|
0.00001
|
NM_000642.3(AGL):c.4481+10C>G
|
rs1026785989
|
0.00001
|
NM_000642.3(AGL):c.4481+9T>C
|
rs1341502946
|
0.00001
|
NM_000642.3(AGL):c.4506A>G (p.Glu1502=)
|
rs546667609
|
0.00001
|
NM_000642.3(AGL):c.4527G>A (p.Gln1509=)
|
rs373624039
|
0.00001
|
NM_000642.3(AGL):c.4569T>C (p.Ala1523=)
|
rs1655518403
|
0.00001
|
NM_000642.3(AGL):c.460+7T>C
|
rs1292593653
|
0.00001
|
NM_000642.3(AGL):c.461-4G>A
|
rs769201662
|
0.00001
|
NM_000642.3(AGL):c.461-8C>T
|
rs1450860025
|
0.00001
|
NM_000642.3(AGL):c.618G>A (p.Lys206=)
|
rs748570736
|
0.00001
|
NM_000642.3(AGL):c.636T>C (p.Cys212=)
|
rs1466649732
|
0.00001
|
NM_000642.3(AGL):c.684C>T (p.Ile228=)
|
rs961563586
|
0.00001
|
NM_000642.3(AGL):c.69C>T (p.Phe23=)
|
rs1571206197
|
0.00001
|
NM_000642.3(AGL):c.798C>T (p.Tyr266=)
|
rs1011395459
|
0.00001
|
NM_000642.3(AGL):c.801A>G (p.Lys267=)
|
rs370970364
|
0.00001
|
NM_000642.3(AGL):c.83-17_83-16del
|
rs751326594
|
0.00001
|
NM_000642.3(AGL):c.84G>A (p.Gly28=)
|
rs758514310
|
0.00001
|
NM_000642.3(AGL):c.906C>T (p.Phe302=)
|
rs1650930270
|
0.00001
|
NM_000642.3(AGL):c.90G>A (p.Glu30=)
|
rs1485709719
|
0.00001
|
NM_000642.3(AGL):c.951T>G (p.Leu317=)
|
rs1185827766
|
0.00001
|
NM_000642.3(AGL):c.958+10A>G
|
rs1650937201
|
0.00001
|
NM_000642.3(AGL):c.958+12A>G
|
rs1227779911
|
0.00001
|
NM_000642.3(AGL):c.959-4T>C
|
rs1399258321
|
0.00001
|
NM_000891.3(KCNJ2):c.1083A>G (p.Leu361=)
|
rs767166881
|
0.00001
|
NM_000891.3(KCNJ2):c.1104C>T (p.Leu368=)
|
rs753839703
|
0.00001
|
NM_000891.3(KCNJ2):c.1212T>C (p.Pro404=)
|
rs763917912
|
0.00001
|
NM_000891.3(KCNJ2):c.1275G>A (p.Ser425=)
|
rs555386610
|
0.00001
|
NM_000891.3(KCNJ2):c.138C>T (p.Arg46=)
|
rs997406384
|
0.00001
|
NM_000891.3(KCNJ2):c.219C>T (p.Phe73=)
|
rs1434901464
|
0.00001
|
NM_000891.3(KCNJ2):c.222C>T (p.Thr74=)
|
rs1053161336
|
0.00001
|
NM_000891.3(KCNJ2):c.24C>T (p.Arg8=)
|
rs550697411
|
0.00001
|
NM_000891.3(KCNJ2):c.261C>T (p.Ile87=)
|
rs1166497262
|
0.00001
|
NM_000891.3(KCNJ2):c.276C>T (p.Phe92=)
|
rs556248547
|
0.00001
|
NM_000891.3(KCNJ2):c.279C>T (p.Val93=)
|
rs767566718
|
0.00001
|
NM_000891.3(KCNJ2):c.303T>C (p.Cys101=)
|
rs376921497
|
0.00001
|
NM_000891.3(KCNJ2):c.387C>T (p.Phe129=)
|
rs1402832714
|
0.00001
|
NM_000891.3(KCNJ2):c.390G>A (p.Thr130=)
|
rs745672560
|
0.00001
|
NM_000891.3(KCNJ2):c.435T>C (p.Tyr145=)
|
rs773185250
|
0.00001
|
NM_000891.3(KCNJ2):c.453G>A (p.Thr151=)
|
rs751862699
|
0.00001
|
NM_000891.3(KCNJ2):c.465A>G (p.Pro155=)
|
rs759879267
|
0.00001
|
NM_000891.3(KCNJ2):c.498C>T (p.Ile166=)
|
rs142049682
|
0.00001
|
NM_000891.3(KCNJ2):c.579T>G (p.Leu193=)
|
rs773272852
|
0.00001
|
NM_000891.3(KCNJ2):c.675T>C (p.Ala225=)
|
rs201850260
|
0.00001
|
NM_000891.3(KCNJ2):c.678T>C (p.His226=)
|
rs559935671
|
0.00001
|
NM_000891.3(KCNJ2):c.687A>G (p.Ala229=)
|
rs1276042254
|
0.00001
|
NM_000891.3(KCNJ2):c.750C>A (p.Ile250=)
|
rs886039094
|
0.00001
|
NM_000891.3(KCNJ2):c.75A>C (p.Ala25=)
|
rs1217136489
|
0.00001
|
NM_000891.3(KCNJ2):c.81A>C (p.Ala27=)
|
rs2074384649
|
0.00001
|
NM_000891.3(KCNJ2):c.87C>T (p.Gly29=)
|
rs1027878057
|
0.00001
|
NM_000891.3(KCNJ2):c.924G>A (p.Thr308=)
|
rs1441547463
|
0.00001
|
NM_000891.3(KCNJ2):c.945T>C (p.Tyr315=)
|
rs2074390355
|
0.00001
|
NM_000891.3(KCNJ2):c.984T>C (p.Pro328=)
|
rs905657549
|
0.00001
|
NM_000891.3(KCNJ2):c.99G>A (p.Gly33=)
|
rs769513425
|
0.00001
|
NM_000891.3(KCNJ2):c.9T>C (p.Ser3=)
|
rs1598210962
|
0.00001
|
NM_000925.4(PDHB):c.1005A>G (p.Ala335=)
|
rs749945707
|
0.00001
|
NM_000925.4(PDHB):c.1047C>A (p.Ile349=)
|
rs772087134
|
0.00001
|
NM_000925.4(PDHB):c.1069T>C (p.Leu357=)
|
rs768436316
|
0.00001
|
NM_000925.4(PDHB):c.1080G>A (p.Ter360=)
|
rs1323403685
|
0.00001
|
NM_000925.4(PDHB):c.15T>C (p.Ser5=)
|
rs775907917
|
0.00001
|
NM_000925.4(PDHB):c.216G>A (p.Gly72=)
|
rs150167131
|
0.00001
|
NM_000925.4(PDHB):c.231T>C (p.Tyr77=)
|
rs1320317596
|
0.00001
|
NM_000925.4(PDHB):c.384C>G (p.Ala128=)
|
rs1292480962
|
0.00001
|
NM_000925.4(PDHB):c.417T>C (p.Pro139=)
|
rs762644804
|
0.00001
|
NM_000925.4(PDHB):c.45C>G (p.Val15=)
|
rs747916943
|
0.00001
|
NM_000925.4(PDHB):c.492C>T (p.Ala164=)
|
rs200016955
|
0.00001
|
NM_000925.4(PDHB):c.498T>C (p.Tyr166=)
|
rs757249455
|
0.00001
|
NM_000925.4(PDHB):c.507C>T (p.Cys169=)
|
rs143765288
|
0.00001
|
NM_000925.4(PDHB):c.747C>T (p.Cys249=)
|
rs766540951
|
0.00001
|
NM_000925.4(PDHB):c.78C>T (p.Thr26=)
|
rs552159384
|
0.00001
|
NM_000925.4(PDHB):c.84G>T (p.Pro28=)
|
rs1458982933
|
0.00001
|
NM_000925.4(PDHB):c.897T>C (p.Phe299=)
|
rs145795547
|
0.00001
|
NM_000925.4(PDHB):c.915C>A (p.Ile305=)
|
rs140921216
|
0.00001
|
NM_000925.4(PDHB):c.942G>A (p.Ala314=)
|
rs148770511
|
0.00001
|
NM_000925.4(PDHB):c.96+11C>T
|
rs754446937
|
0.00001
|
NM_001008216.2(GALE):c.192G>A (p.Glu64=)
|
rs748354696
|
0.00001
|
NM_001008216.2(GALE):c.238-6C>T
|
rs751079525
|
0.00001
|
NM_001008216.2(GALE):c.408C>T (p.Tyr136=)
|
rs727503943
|
0.00001
|
NM_001008216.2(GALE):c.643-7C>T
|
rs771926683
|
0.00001
|
NM_001008216.2(GALE):c.648G>A (p.Ala216=)
|
rs144723215
|
0.00001
|
NM_001008216.2(GALE):c.723C>T (p.Tyr241=)
|
rs777457188
|
0.00001
|
NM_001008216.2(GALE):c.753C>T (p.His251=)
|
rs766024842
|
0.00001
|
NM_001039770.3(TMPPE):c.-391C>T
|
rs766309446
|
0.00001
|
NM_001040716.2(PC):c.1002G>A (p.Thr334=)
|
rs778602769
|
0.00001
|
NM_001040716.2(PC):c.1022+12C>T
|
rs754143204
|
0.00001
|
NM_001040716.2(PC):c.1088G>A (p.Arg363Gln)
|
rs752041697
|
0.00001
|
NM_001040716.2(PC):c.108C>T (p.Pro36=)
|
rs1226912880
|
0.00001
|
NM_001040716.2(PC):c.1092G>A (p.Gln364=)
|
rs1192644624
|
0.00001
|
NM_001040716.2(PC):c.1098C>T (p.Asn366=)
|
rs775182284
|
0.00001
|
NM_001040716.2(PC):c.1110C>T (p.Asn370=)
|
rs776429910
|
0.00001
|
NM_001040716.2(PC):c.1152G>A (p.Ala384=)
|
rs373053724
|
0.00001
|
NM_001040716.2(PC):c.1155C>A (p.Arg385=)
|
rs1179773551
|
0.00001
|
NM_001040716.2(PC):c.1173C>T (p.Thr391=)
|
rs202135326
|
0.00001
|
NM_001040716.2(PC):c.1185+7G>A
|
rs764854894
|
0.00001
|
NM_001040716.2(PC):c.1186-19C>T
|
rs200472867
|
0.00001
|
NM_001040716.2(PC):c.1197C>T (p.Ser399=)
|
rs776840589
|
0.00001
|
NM_001040716.2(PC):c.1221G>A (p.Leu407=)
|
rs771046930
|
0.00001
|
NM_001040716.2(PC):c.1248C>T (p.Ala416=)
|
rs372061505
|
0.00001
|
NM_001040716.2(PC):c.1257G>A (p.Ser419=)
|
rs1417266857
|
0.00001
|
NM_001040716.2(PC):c.1269C>T (p.Asp423=)
|
rs1387760011
|
0.00001
|
NM_001040716.2(PC):c.1272C>T (p.Ser424=)
|
rs767255097
|
0.00001
|
NM_001040716.2(PC):c.1273C>T (p.Leu425=)
|
rs1397701009
|
0.00001
|
NM_001040716.2(PC):c.1299C>G (p.Gly433=)
|
rs763937652
|
0.00001
|
NM_001040716.2(PC):c.1311C>G (p.Pro437=)
|
rs766485640
|
0.00001
|
NM_001040716.2(PC):c.136+8C>T
|
rs944736105
|
0.00001
|
NM_001040716.2(PC):c.136+9C>T
|
rs749948216
|
0.00001
|
NM_001040716.2(PC):c.1431C>T (p.Asp477=)
|
rs746568602
|
0.00001
|
NM_001040716.2(PC):c.1443C>T (p.Ile481=)
|
rs375389054
|
0.00001
|
NM_001040716.2(PC):c.1461G>A (p.Leu487=)
|
rs1209304828
|
0.00001
|
NM_001040716.2(PC):c.1485C>T (p.Asn495=)
|
rs766290468
|
0.00001
|
NM_001040716.2(PC):c.14G>A (p.Arg5Gln)
|
rs753072659
|
0.00001
|
NM_001040716.2(PC):c.1503G>A (p.Leu501=)
|
rs200108233
|
0.00001
|
NM_001040716.2(PC):c.1514-9T>C
|
rs769129894
|
0.00001
|
NM_001040716.2(PC):c.1518T>C (p.His506=)
|
rs781319350
|
0.00001
|
NM_001040716.2(PC):c.1545G>A (p.Pro515=)
|
rs761154786
|
0.00001
|
NM_001040716.2(PC):c.159C>T (p.Phe53=)
|
rs749641310
|
0.00001
|
NM_001040716.2(PC):c.1603+12C>G
|
rs755182246
|
0.00001
|
NM_001040716.2(PC):c.1604-16C>A
|
rs769556316
|
0.00001
|
NM_001040716.2(PC):c.1620T>C (p.Gly540=)
|
rs781570011
|
0.00001
|
NM_001040716.2(PC):c.1647G>A (p.Gly549=)
|
rs763282432
|
0.00001
|
NM_001040716.2(PC):c.1713G>A (p.Arg571=)
|
rs924296015
|
0.00001
|
NM_001040716.2(PC):c.1719C>T (p.Ala573=)
|
rs1168306694
|
0.00001
|
NM_001040716.2(PC):c.1826-5T>C
|
rs750069032
|
0.00001
|
NM_001040716.2(PC):c.1826-6G>A
|
rs377766432
|
0.00001
|
NM_001040716.2(PC):c.1839C>T (p.Asp613=)
|
rs369234869
|
0.00001
|
NM_001040716.2(PC):c.1971C>T (p.Asn657=)
|
rs776137762
|
0.00001
|
NM_001040716.2(PC):c.1974G>C (p.Val658=)
|
rs745327162
|
0.00001
|
NM_001040716.2(PC):c.1982+10G>A
|
rs373251486
|
0.00001
|
NM_001040716.2(PC):c.1983-9C>T
|
rs747875763
|
0.00001
|
NM_001040716.2(PC):c.2088C>T (p.Ala696=)
|
rs975494289
|
0.00001
|
NM_001040716.2(PC):c.2190G>C (p.Leu730=)
|
rs926210262
|
0.00001
|
NM_001040716.2(PC):c.2195G>A (p.Arg732Gln)
|
rs773872994
|
0.00001
|
NM_001040716.2(PC):c.2214G>A (p.Leu738=)
|
rs202134233
|
0.00001
|
NM_001040716.2(PC):c.2224-18C>A
|
rs768718604
|
0.00001
|
NM_001040716.2(PC):c.2226C>T (p.Asp742=)
|
rs1445463369
|
0.00001
|
NM_001040716.2(PC):c.2265G>T (p.Leu755=)
|
rs1226564535
|
0.00001
|
NM_001040716.2(PC):c.2268C>T (p.Val756=)
|
rs183729868
|
0.00001
|
NM_001040716.2(PC):c.2274C>T (p.Ser758=)
|
rs930022211
|
0.00001
|
NM_001040716.2(PC):c.2280G>A (p.Arg760=)
|
rs1322102414
|
0.00001
|
NM_001040716.2(PC):c.2292C>T (p.Pro764=)
|
rs757918962
|
0.00001
|
NM_001040716.2(PC):c.2409G>A (p.Gly803=)
|
rs778275619
|
0.00001
|
NM_001040716.2(PC):c.2473+8G>A
|
rs371135064
|
0.00001
|
NM_001040716.2(PC):c.2493G>A (p.Val831=)
|
rs1366257079
|
0.00001
|
NM_001040716.2(PC):c.2505T>C (p.Ser835=)
|
rs750588691
|
0.00001
|
NM_001040716.2(PC):c.2574C>T (p.Asn858=)
|
rs753913817
|
0.00001
|
NM_001040716.2(PC):c.2589A>G (p.Glu863=)
|
rs767914748
|
0.00001
|
NM_001040716.2(PC):c.2637C>T (p.His879=)
|
rs1255657554
|
0.00001
|
NM_001040716.2(PC):c.2652C>T (p.Gly884=)
|
rs777576274
|
0.00001
|
NM_001040716.2(PC):c.2706C>T (p.Gly902=)
|
rs73489729
|
0.00001
|
NM_001040716.2(PC):c.2719-11C>A
|
rs767201118
|
0.00001
|
NM_001040716.2(PC):c.2724G>A (p.Thr908=)
|
rs573985170
|
0.00001
|
NM_001040716.2(PC):c.2727C>T (p.Pro909=)
|
rs1288499682
|
0.00001
|
NM_001040716.2(PC):c.2730C>T (p.Ser910=)
|
rs554090254
|
0.00001
|
NM_001040716.2(PC):c.2739C>T (p.Ile913=)
|
rs145489836
|
0.00001
|
NM_001040716.2(PC):c.2754C>T (p.Ala918=)
|
rs534275006
|
0.00001
|
NM_001040716.2(PC):c.2776T>C (p.Leu926=)
|
rs912867186
|
0.00001
|
NM_001040716.2(PC):c.2793C>T (p.Ala931=)
|
rs749960473
|
0.00001
|
NM_001040716.2(PC):c.2805G>A (p.Ala935=)
|
rs1278630981
|
0.00001
|
NM_001040716.2(PC):c.2829C>T (p.Ser943=)
|
rs769867981
|
0.00001
|
NM_001040716.2(PC):c.2838G>A (p.Glu946=)
|
rs1945378120
|
0.00001
|
NM_001040716.2(PC):c.2844G>A (p.Leu948=)
|
rs753274377
|
0.00001
|
NM_001040716.2(PC):c.2880C>T (p.Pro960=)
|
rs549991937
|
0.00001
|
NM_001040716.2(PC):c.289C>T (p.Leu97=)
|
rs368549197
|
0.00001
|
NM_001040716.2(PC):c.2922G>A (p.Val974=)
|
rs752435667
|
0.00001
|
NM_001040716.2(PC):c.2976G>A (p.Lys992=)
|
rs368895283
|
0.00001
|
NM_001040716.2(PC):c.2997G>A (p.Gly999=)
|
rs1945359016
|
0.00001
|
NM_001040716.2(PC):c.3024C>T (p.Leu1008=)
|
rs1418975965
|
0.00001
|
NM_001040716.2(PC):c.3043G>A (p.Asp1015Asn)
|
rs746490033
|
0.00001
|
NM_001040716.2(PC):c.3078C>T (p.Thr1026=)
|
rs750411329
|
0.00001
|
NM_001040716.2(PC):c.3084C>A (p.Gly1028=)
|
rs375994634
|
0.00001
|
NM_001040716.2(PC):c.3132C>T (p.Ile1044=)
|
rs771370242
|
0.00001
|
NM_001040716.2(PC):c.3147+17C>T
|
rs767447355
|
0.00001
|
NM_001040716.2(PC):c.3148-10C>T
|
rs772718644
|
0.00001
|
NM_001040716.2(PC):c.3148-14C>T
|
rs773784306
|
0.00001
|
NM_001040716.2(PC):c.3177C>T (p.His1059=)
|
rs769512871
|
0.00001
|
NM_001040716.2(PC):c.3262T>C (p.Leu1088=)
|
rs910028001
|
0.00001
|
NM_001040716.2(PC):c.3279G>A (p.Gln1093=)
|
rs754942279
|
0.00001
|
NM_001040716.2(PC):c.3288+20C>T
|
rs750712278
|
0.00001
|
NM_001040716.2(PC):c.3288+9T>A
|
rs1233044534
|
0.00001
|
NM_001040716.2(PC):c.3357G>A (p.Lys1119=)
|
rs960938078
|
0.00001
|
NM_001040716.2(PC):c.3504G>A (p.Leu1168=)
|
rs1309122730
|
0.00001
|
NM_001040716.2(PC):c.354C>T (p.Tyr118=)
|
rs756061375
|
0.00001
|
NM_001040716.2(PC):c.375G>A (p.Ala125=)
|
rs775684836
|
0.00001
|
NM_001040716.2(PC):c.381C>T (p.Phe127=)
|
rs367957543
|
0.00001
|
NM_001040716.2(PC):c.435G>A (p.Val145=)
|
rs778555357
|
0.00001
|
NM_001040716.2(PC):c.462G>A (p.Glu154=)
|
rs1240619530
|
0.00001
|
NM_001040716.2(PC):c.576C>A (p.Ile192=)
|
rs758308970
|
0.00001
|
NM_001040716.2(PC):c.630C>T (p.Tyr210=)
|
rs751914905
|
0.00001
|
NM_001040716.2(PC):c.63C>T (p.Thr21=)
|
rs1283060530
|
0.00001
|
NM_001040716.2(PC):c.642G>A (p.Glu214=)
|
rs1213652361
|
0.00001
|
NM_001040716.2(PC):c.678C>T (p.Ala226=)
|
rs760305529
|
0.00001
|
NM_001040716.2(PC):c.696G>A (p.Ala232=)
|
rs768625636
|
0.00001
|
NM_001040716.2(PC):c.717C>T (p.Ile239=)
|
rs568909850
|
0.00001
|
NM_001040716.2(PC):c.720G>A (p.Glu240=)
|
rs549056241
|
0.00001
|
NM_001040716.2(PC):c.735C>T (p.Ile245=)
|
rs1212408282
|
0.00001
|
NM_001040716.2(PC):c.741G>A (p.Val247=)
|
rs753387559
|
0.00001
|
NM_001040716.2(PC):c.753G>C (p.Gly251=)
|
rs1351471340
|
0.00001
|
NM_001040716.2(PC):c.78C>A (p.Ser26=)
|
rs1161512784
|
0.00001
|
NM_001040716.2(PC):c.819G>A (p.Lys273=)
|
rs780734661
|
0.00001
|
NM_001040716.2(PC):c.825C>T (p.Val275=)
|
rs546067067
|
0.00001
|
NM_001040716.2(PC):c.894C>T (p.Leu298=)
|
rs369445102
|
0.00001
|
NM_001040716.2(PC):c.904-10G>A
|
rs377642026
|
0.00001
|
NM_001040716.2(PC):c.912C>T (p.Tyr304=)
|
rs541901384
|
0.00001
|
NM_001040716.2(PC):c.921A>C (p.Ala307=)
|
rs754821702
|
0.00001
|
NM_001040716.2(PC):c.927C>T (p.Thr309=)
|
rs373717650
|
0.00001
|
NM_001040716.2(PC):c.987G>A (p.Leu329=)
|
rs771424347
|
0.00001
|
NM_001164277.2(SLC37A4):c.102C>A (p.Val34=)
|
rs1277712643
|
0.00001
|
NM_001164277.2(SLC37A4):c.1068T>C (p.Ser356=)
|
rs946752823
|
0.00001
|
NM_001164277.2(SLC37A4):c.1092C>T (p.Thr364=)
|
rs1483400314
|
0.00001
|
NM_001164277.2(SLC37A4):c.1124+8T>C
|
rs377506675
|
0.00001
|
NM_001164277.2(SLC37A4):c.1125-6T>C
|
rs782323567
|
0.00001
|
NM_001164277.2(SLC37A4):c.1209T>C (p.Ile403=)
|
rs782074488
|
0.00001
|
NM_001164277.2(SLC37A4):c.1215G>A (p.Ala405=)
|
rs1043721709
|
0.00001
|
NM_001164277.2(SLC37A4):c.186C>T (p.Ile62=)
|
rs1452761654
|
0.00001
|
NM_001164277.2(SLC37A4):c.21C>G (p.Gly7=)
|
rs370153031
|
0.00001
|
NM_001164277.2(SLC37A4):c.231C>G (p.Arg77=)
|
rs1478378942
|
0.00001
|
NM_001164277.2(SLC37A4):c.237C>T (p.Leu79=)
|
rs546808955
|
0.00001
|
NM_001164277.2(SLC37A4):c.264C>T (p.Gly88=)
|
rs782292086
|
0.00001
|
NM_001164277.2(SLC37A4):c.346C>T (p.Leu116=)
|
rs191768893
|
0.00001
|
NM_001164277.2(SLC37A4):c.357C>G (p.Pro119=)
|
rs782358834
|
0.00001
|
NM_001164277.2(SLC37A4):c.382-16G>A
|
rs778665353
|
0.00001
|
NM_001164277.2(SLC37A4):c.399G>A (p.Gln133=)
|
rs767772187
|
0.00001
|
NM_001164277.2(SLC37A4):c.456C>T (p.Gly152=)
|
rs1943620012
|
0.00001
|
NM_001164277.2(SLC37A4):c.465G>C (p.Leu155=)
|
rs776272750
|
0.00001
|
NM_001164277.2(SLC37A4):c.489C>T (p.Tyr163=)
|
rs745606440
|
0.00001
|
NM_001164277.2(SLC37A4):c.504G>A (p.Thr168=)
|
rs751791093
|
0.00001
|
NM_001164277.2(SLC37A4):c.507G>A (p.Leu169=)
|
rs1326476812
|
0.00001
|
NM_001164277.2(SLC37A4):c.513A>G (p.Leu171=)
|
rs1943617167
|
0.00001
|
NM_001164277.2(SLC37A4):c.591C>T (p.Arg197=)
|
rs1476372585
|
0.00001
|
NM_001164277.2(SLC37A4):c.626+12C>T
|
rs549251533
|
0.00001
|
NM_001164277.2(SLC37A4):c.626+9C>T
|
rs1316816882
|
0.00001
|
NM_001164277.2(SLC37A4):c.699C>T (p.Tyr233=)
|
rs1197991440
|
0.00001
|
NM_001164277.2(SLC37A4):c.69G>A (p.Leu23=)
|
rs1256797588
|
0.00001
|
NM_001164277.2(SLC37A4):c.756C>T (p.Ile252=)
|
rs1943586351
|
0.00001
|
NM_001164277.2(SLC37A4):c.777C>T (p.Ala259=)
|
rs529075134
|
0.00001
|
NM_001164277.2(SLC37A4):c.785+13T>C
|
rs1351380633
|
0.00001
|
NM_001164277.2(SLC37A4):c.785+16G>A
|
rs1283553362
|
0.00001
|
NM_001164277.2(SLC37A4):c.786-10C>T
|
rs782502549
|
0.00001
|
NM_001164277.2(SLC37A4):c.786-7A>G
|
rs781887799
|
0.00001
|
NM_001164277.2(SLC37A4):c.831C>T (p.Ser277=)
|
rs996156142
|
0.00001
|
NM_001164277.2(SLC37A4):c.846C>T (p.Tyr282=)
|
rs372837897
|
0.00001
|
NM_001164277.2(SLC37A4):c.871+7G>A
|
rs782177602
|
0.00001
|
NM_001164277.2(SLC37A4):c.872-11T>C
|
rs1265857875
|
0.00001
|
NM_001164277.2(SLC37A4):c.872-6C>G
|
rs781985446
|
0.00001
|
NM_001164277.2(SLC37A4):c.888C>T (p.Tyr296=)
|
rs782326705
|
0.00001
|
NM_001164277.2(SLC37A4):c.963A>G (p.Thr321=)
|
rs1388219398
|
0.00001
|
NM_001164277.2(SLC37A4):c.986-15C>T
|
rs782640506
|
0.00001
|
NM_001164277.2(SLC37A4):c.986-8C>T
|
rs782425309
|
0.00001
|
NM_001243177.4(ALDOA):c.1134G>A (p.Ala378=)
|
rs530089317
|
0.00001
|
NM_001243177.4(ALDOA):c.1233C>T (p.Leu411=)
|
rs3169548
|
0.00001
|
NM_001243177.4(ALDOA):c.309C>T (p.Thr103=)
|
rs758280973
|
0.00001
|
NM_001243177.4(ALDOA):c.720C>T (p.Ile240=)
|
rs573479181
|
0.00001
|
NM_001243177.4(ALDOA):c.996G>C (p.Glu332Asp)
|
rs565013143
|
0.00001
|
NM_001352514.2(HLCS):c.1083T>C (p.Cys361=)
|
rs568871363
|
0.00001
|
NM_001352514.2(HLCS):c.1101T>C (p.Ala367=)
|
rs773020648
|
0.00001
|
NM_001352514.2(HLCS):c.1164G>A (p.Gly388=)
|
rs765979436
|
0.00001
|
NM_001352514.2(HLCS):c.1179G>A (p.Leu393=)
|
rs1395979008
|
0.00001
|
NM_001352514.2(HLCS):c.1188C>T (p.Ser396=)
|
rs1188065092
|
0.00001
|
NM_001352514.2(HLCS):c.1227A>C (p.Ala409=)
|
rs776771975
|
0.00001
|
NM_001352514.2(HLCS):c.1242C>G (p.Val414=)
|
rs772203778
|
0.00001
|
NM_001352514.2(HLCS):c.1371G>A (p.Glu457=)
|
rs760694310
|
0.00001
|
NM_001352514.2(HLCS):c.1395T>C (p.His465=)
|
rs2066885260
|
0.00001
|
NM_001352514.2(HLCS):c.1413C>T (p.Arg471=)
|
rs533602689
|
0.00001
|
NM_001352514.2(HLCS):c.1425T>C (p.Ala475=)
|
rs1034237557
|
0.00001
|
NM_001352514.2(HLCS):c.1437+7A>G
|
rs1240794985
|
0.00001
|
NM_001352514.2(HLCS):c.1524C>T (p.Tyr508=)
|
rs772808561
|
0.00001
|
NM_001352514.2(HLCS):c.1596T>G (p.Pro532=)
|
rs201862206
|
0.00001
|
NM_001352514.2(HLCS):c.1719C>T (p.Tyr573=)
|
rs148814769
|
0.00001
|
NM_001352514.2(HLCS):c.1863G>A (p.Val621=)
|
rs762642801
|
0.00001
|
NM_001352514.2(HLCS):c.1893-9C>G
|
rs761781683
|
0.00001
|
NM_001352514.2(HLCS):c.1908A>T (p.Thr636=)
|
rs1369860703
|
0.00001
|
NM_001352514.2(HLCS):c.2034A>G (p.Arg678=)
|
rs945618984
|
0.00001
|
NM_001352514.2(HLCS):c.2058G>A (p.Pro686=)
|
rs556886743
|
0.00001
|
NM_001352514.2(HLCS):c.2208C>T (p.Leu736=)
|
rs764487201
|
0.00001
|
NM_001352514.2(HLCS):c.2346T>C (p.Tyr782=)
|
rs367725468
|
0.00001
|
NM_001352514.2(HLCS):c.2418C>G (p.Val806=)
|
rs759416272
|
0.00001
|
NM_001352514.2(HLCS):c.2463C>A (p.Val821=)
|
rs779439814
|
0.00001
|
NM_001352514.2(HLCS):c.2505C>A (p.Gly835=)
|
rs199936080
|
0.00001
|
NM_001352514.2(HLCS):c.2571C>T (p.Asp857=)
|
rs202028605
|
0.00001
|
NM_001352514.2(HLCS):c.2601C>A (p.Leu867=)
|
rs372467001
|
0.00001
|
NM_001352514.2(HLCS):c.456C>A (p.Leu152=)
|
rs778232930
|
0.00001
|
NM_001352514.2(HLCS):c.498G>A (p.Val166=)
|
rs2066944593
|
0.00001
|
NM_001352514.2(HLCS):c.513C>T (p.Ser171=)
|
rs755797089
|
0.00001
|
NM_001352514.2(HLCS):c.540C>T (p.Val180=)
|
rs574644351
|
0.00001
|
NM_001352514.2(HLCS):c.570G>A (p.Pro190=)
|
rs780666266
|
0.00001
|
NM_001352514.2(HLCS):c.585T>C (p.Ser195=)
|
rs1379810424
|
0.00001
|
NM_001352514.2(HLCS):c.609C>T (p.Asp203=)
|
rs370118884
|
0.00001
|
NM_001352514.2(HLCS):c.621T>C (p.His207=)
|
rs1323740370
|
0.00001
|
NM_001352514.2(HLCS):c.681C>T (p.Ala227=)
|
rs768745299
|
0.00001
|
NM_001352514.2(HLCS):c.696T>C (p.Pro232=)
|
rs200877859
|
0.00001
|
NM_001352514.2(HLCS):c.723C>A (p.Gly241=)
|
rs886057077
|
0.00001
|
NM_001352514.2(HLCS):c.744C>G (p.Leu248=)
|
rs764416032
|
0.00001
|
NM_001352514.2(HLCS):c.762C>T (p.His254=)
|
rs775946159
|
0.00001
|
NM_001352514.2(HLCS):c.810G>A (p.Ala270=)
|
rs747702795
|
0.00001
|
NM_001352514.2(HLCS):c.840C>T (p.Tyr280=)
|
rs779907293
|
0.00001
|
NM_001352514.2(HLCS):c.861G>A (p.Glu287=)
|
rs1410993144
|
0.00001
|
NM_001352514.2(HLCS):c.969C>T (p.Leu323=)
|
rs1458636068
|
0.00001
|
NM_001352514.2(HLCS):c.981C>T (p.His327=)
|
rs773664058
|
0.00001
|
NM_001352514.2(HLCS):c.996G>A (p.Val332=)
|
rs745472061
|
0.00001
|
NM_001360016.2(G6PD):c.1052-10C>T
|
rs1557229778
|
0.00001
|
NM_001360016.2(G6PD):c.1052-9G>A
|
rs1334473526
|
0.00001
|
NM_001360016.2(G6PD):c.1059C>T (p.Pro353=)
|
rs80280508
|
0.00001
|
NM_001360016.2(G6PD):c.1074C>T (p.Cys358=)
|
rs782078151
|
0.00001
|
NM_001360016.2(G6PD):c.1084C>T (p.Leu362=)
|
rs375809290
|
0.00001
|
NM_001360016.2(G6PD):c.1086G>A (p.Leu362=)
|
rs1557229739
|
0.00001
|
NM_001360016.2(G6PD):c.1254G>A (p.Ser418=)
|
rs371808526
|
0.00001
|
NM_001360016.2(G6PD):c.1287+14A>G
|
rs1557229641
|
0.00001
|
NM_001360016.2(G6PD):c.1290C>T (p.Asn430=)
|
rs782761811
|
0.00001
|
NM_001360016.2(G6PD):c.1314G>A (p.Glu438=)
|
rs1557229604
|
0.00001
|
NM_001360016.2(G6PD):c.1464C>T (p.Gly488=)
|
rs1557229428
|
0.00001
|
NM_001360016.2(G6PD):c.1485G>A (p.Leu495=)
|
rs781923155
|
0.00001
|
NM_001360016.2(G6PD):c.1506G>A (p.Gln502=)
|
rs1447713922
|
0.00001
|
NM_001360016.2(G6PD):c.153C>T (p.Thr51=)
|
rs2070406324
|
0.00001
|
NM_001360016.2(G6PD):c.177C>T (p.Gly59=)
|
rs1557230778
|
0.00001
|
NM_001360016.2(G6PD):c.228A>T (p.Thr76=)
|
rs782143230
|
0.00001
|
NM_001360016.2(G6PD):c.267+7G>A
|
rs2070402994
|
0.00001
|
NM_001360016.2(G6PD):c.309C>T (p.Ala103=)
|
rs781967989
|
0.00001
|
NM_001360016.2(G6PD):c.333G>A (p.Gln111=)
|
rs782572765
|
0.00001
|
NM_001360016.2(G6PD):c.396A>C (p.Ser132=)
|
rs1557230597
|
0.00001
|
NM_001360016.2(G6PD):c.432G>A (p.Pro144=)
|
rs782618375
|
0.00001
|
NM_001360016.2(G6PD):c.447C>T (p.Ala149=)
|
rs1557230574
|
0.00001
|
NM_001360016.2(G6PD):c.485+13G>A
|
rs781898381
|
0.00001
|
NM_001360016.2(G6PD):c.516C>T (p.Pro172=)
|
rs781805733
|
0.00001
|
NM_001360016.2(G6PD):c.645-8C>T
|
rs782599047
|
0.00001
|
NM_001360016.2(G6PD):c.648T>C (p.Phe216=)
|
rs137852319
|
0.00001
|
NM_001360016.2(G6PD):c.654C>T (p.Asn218=)
|
rs1557230228
|
0.00001
|
NM_001360016.2(G6PD):c.663C>T (p.Phe221=)
|
rs782530472
|
0.00001
|
NM_001360016.2(G6PD):c.771-9C>T
|
rs1237524196
|
0.00001
|
NM_001360016.2(G6PD):c.774C>T (p.Asp258=)
|
rs1252251475
|
0.00001
|
NM_001360016.2(G6PD):c.865-5C>T
|
rs781920344
|
0.00001
|
NM_001370658.1(BTD):c.-17+7A>C
|
rs1453269936
|
0.00001
|
NM_001370658.1(BTD):c.-22G>A
|
rs781354864
|
0.00001
|
NM_001370658.1(BTD):c.1092C>T (p.Thr364=)
|
rs753278397
|
0.00001
|
NM_001370658.1(BTD):c.1101C>T (p.Asn367=)
|
rs756863026
|
0.00001
|
NM_001370658.1(BTD):c.1161T>C (p.Pro387=)
|
rs749528636
|
0.00001
|
NM_001370658.1(BTD):c.1200T>C (p.Asn400=)
|
rs2065658628
|
0.00001
|
NM_001370658.1(BTD):c.1236C>A (p.Thr412=)
|
rs1575030932
|
0.00001
|
NM_001370658.1(BTD):c.1377G>A (p.Thr459=)
|
rs535292517
|
0.00001
|
NM_001370658.1(BTD):c.1446A>G (p.Ser482=)
|
rs1323842252
|
0.00001
|
NM_001370658.1(BTD):c.1470C>T (p.Asp490=)
|
rs1301007653
|
0.00001
|
NM_001370658.1(BTD):c.249+15C>T
|
rs760435212
|
0.00001
|
NM_001370658.1(BTD):c.255A>C (p.Val85=)
|
rs369304137
|
0.00001
|
NM_001370658.1(BTD):c.600A>G (p.Ala200=)
|
rs757071809
|
0.00001
|
NM_001370658.1(BTD):c.669C>T (p.Phe223=)
|
rs774761127
|
0.00001
|
NM_001370658.1(BTD):c.729G>A (p.Val243=)
|
rs777470168
|
0.00001
|
NM_001370658.1(BTD):c.789G>A (p.Glu263=)
|
rs2065643507
|
0.00001
|
NM_001370658.1(BTD):c.843C>A (p.Val281=)
|
rs1344958210
|
0.00001
|
NM_001739.2(CA5A):c.630G>A (p.Ala210=)
|
rs1399915166
|
0.00001
|
NM_001739.2(CA5A):c.726G>A (p.Ser242=)
|
rs562598251
|
0.00001
|
NM_001739.2(CA5A):c.777C>G (p.Leu259=)
|
rs762128732
|
0.00001
|
NM_001931.5(DLAT):c.1071T>C (p.Val357=)
|
rs1306854057
|
0.00001
|
NM_001931.5(DLAT):c.1198-20C>T
|
rs1281574403
|
0.00001
|
NM_001931.5(DLAT):c.240G>A (p.Ser80=)
|
rs587735788
|
0.00001
|
NM_001931.5(DLAT):c.252C>T (p.Arg84=)
|
rs782672095
|
0.00001
|
NM_001931.5(DLAT):c.267C>A (p.Pro89=)
|
rs782078082
|
0.00001
|
NM_001931.5(DLAT):c.381+8T>G
|
rs782048424
|
0.00001
|
NM_001931.5(DLAT):c.654C>T (p.His218=)
|
rs1472423442
|
0.00001
|
NM_001931.5(DLAT):c.759A>G (p.Ala253=)
|
rs914123181
|
0.00001
|
NM_001931.5(DLAT):c.864C>G (p.Thr288=)
|
rs782236703
|
0.00001
|
NM_001931.5(DLAT):c.981C>T (p.Ala327=)
|
rs782157762
|
0.00001
|
NM_002076.4(GNS):c.1071T>C (p.Pro357=)
|
rs779476775
|
0.00001
|
NM_002076.4(GNS):c.1089G>A (p.Gln363=)
|
rs369866661
|
0.00001
|
NM_002076.4(GNS):c.1099-5C>T
|
rs1277798355
|
0.00001
|
NM_002076.4(GNS):c.1104G>T (p.Leu368=)
|
rs766168524
|
0.00001
|
NM_002076.4(GNS):c.1152C>T (p.Tyr384=)
|
rs753238075
|
0.00001
|
NM_002076.4(GNS):c.1164G>A (p.Lys388=)
|
rs1263703439
|
0.00001
|
NM_002076.4(GNS):c.1197T>C (p.Ile399=)
|
rs1454694759
|
0.00001
|
NM_002076.4(GNS):c.1200+12G>A
|
rs771806213
|
0.00001
|
NM_002076.4(GNS):c.1200+8T>G
|
rs768052687
|
0.00001
|
NM_002076.4(GNS):c.1201-7T>C
|
rs771699876
|
0.00001
|
NM_002076.4(GNS):c.1227A>T (p.Arg409=)
|
rs1417176156
|
0.00001
|
NM_002076.4(GNS):c.1266C>T (p.Asn422=)
|
rs770070081
|
0.00001
|
NM_002076.4(GNS):c.12G>A (p.Leu4=)
|
rs1252707980
|
0.00001
|
NM_002076.4(GNS):c.1302C>A (p.Gly434=)
|
rs747491925
|
0.00001
|
NM_002076.4(GNS):c.1302C>T (p.Gly434=)
|
rs747491925
|
0.00001
|
NM_002076.4(GNS):c.1329A>G (p.Val443=)
|
rs745896040
|
0.00001
|
NM_002076.4(GNS):c.1368G>A (p.Arg456=)
|
rs201966474
|
0.00001
|
NM_002076.4(GNS):c.1381T>C (p.Leu461=)
|
rs765783864
|
0.00001
|
NM_002076.4(GNS):c.1420-7C>T
|
rs764819766
|
0.00001
|
NM_002076.4(GNS):c.1452C>T (p.Asp484=)
|
rs1252524521
|
0.00001
|
NM_002076.4(GNS):c.150G>A (p.Val50=)
|
rs1260892915
|
0.00001
|
NM_002076.4(GNS):c.1512C>T (p.Asn504=)
|
rs781191329
|
0.00001
|
NM_002076.4(GNS):c.1578C>T (p.Pro526=)
|
rs753472052
|
0.00001
|
NM_002076.4(GNS):c.1654C>T (p.Leu552=)
|
rs751913045
|
0.00001
|
NM_002076.4(GNS):c.16C>T (p.Leu6=)
|
rs746189087
|
0.00001
|
NM_002076.4(GNS):c.264T>C (p.Ser88=)
|
rs1869945578
|
0.00001
|
NM_002076.4(GNS):c.282C>T (p.Ser94=)
|
rs1318657728
|
0.00001
|
NM_002076.4(GNS):c.324C>T (p.His108=)
|
rs748968142
|
0.00001
|
NM_002076.4(GNS):c.351C>T (p.Asn117=)
|
rs748055773
|
0.00001
|
NM_002076.4(GNS):c.381A>G (p.Gln127=)
|
rs374002057
|
0.00001
|
NM_002076.4(GNS):c.459+8G>A
|
rs199789530
|
0.00001
|
NM_002076.4(GNS):c.45C>T (p.Ser15=)
|
rs749771186
|
0.00001
|
NM_002076.4(GNS):c.492C>T (p.His164=)
|
rs773419903
|
0.00001
|
NM_002076.4(GNS):c.525+10T>C
|
rs375745502
|
0.00001
|
NM_002076.4(GNS):c.528A>G (p.Glu176=)
|
rs771492549
|
0.00001
|
NM_002076.4(GNS):c.552C>T (p.Tyr184=)
|
rs375799237
|
0.00001
|
NM_002076.4(GNS):c.558G>A (p.Leu186=)
|
rs200414276
|
0.00001
|
NM_002076.4(GNS):c.57G>A (p.Leu19=)
|
rs1332308897
|
0.00001
|
NM_002076.4(GNS):c.625-17A>G
|
rs950921191
|
0.00001
|
NM_002076.4(GNS):c.699G>A (p.Ala233=)
|
rs762468558
|
0.00001
|
NM_002076.4(GNS):c.875+9T>C
|
rs774743479
|
0.00001
|
NM_002076.4(GNS):c.942G>A (p.Gly314=)
|
rs376505567
|
0.00001
|
NM_002076.4(GNS):c.9C>G (p.Leu3=)
|
rs1479493439
|
0.00001
|
NM_002103.5(GYS1):c.1062+20G>A
|
rs1166929573
|
0.00001
|
NM_002103.5(GYS1):c.1063-4G>A
|
rs201159254
|
0.00001
|
NM_002103.5(GYS1):c.1063-8C>T
|
rs749468005
|
0.00001
|
NM_002103.5(GYS1):c.1110G>A (p.Ala370=)
|
rs200386346
|
0.00001
|
NM_002103.5(GYS1):c.1155G>A (p.Val385=)
|
rs1462804703
|
0.00001
|
NM_002103.5(GYS1):c.1176G>A (p.Thr392=)
|
rs151212573
|
0.00001
|
NM_002103.5(GYS1):c.1242C>T (p.Pro414=)
|
rs751382433
|
0.00001
|
NM_002103.5(GYS1):c.1437G>A (p.Pro479=)
|
rs752556651
|
0.00001
|
NM_002103.5(GYS1):c.1533T>C (p.Pro511=)
|
rs764544117
|
0.00001
|
NM_002103.5(GYS1):c.153G>A (p.Ala51=)
|
rs754432159
|
0.00001
|
NM_002103.5(GYS1):c.1572C>T (p.Ile524=)
|
rs529330816
|
0.00001
|
NM_002103.5(GYS1):c.1809+7C>T
|
rs750481025
|
0.00001
|
NM_002103.5(GYS1):c.1891-11G>A
|
rs1243119458
|
0.00001
|
NM_002103.5(GYS1):c.2124C>G (p.Arg708=)
|
rs1262661557
|
0.00001
|
NM_002103.5(GYS1):c.216C>T (p.Gly72=)
|
rs773065230
|
0.00001
|
NM_002103.5(GYS1):c.438C>T (p.Arg146=)
|
rs1395632551
|
0.00001
|
NM_002103.5(GYS1):c.621G>A (p.Thr207=)
|
rs767865045
|
0.00001
|
NM_002103.5(GYS1):c.637C>T (p.Leu213=)
|
rs764668070
|
0.00001
|
NM_002103.5(GYS1):c.679-16del
|
rs755898154
|
0.00001
|
NM_002103.5(GYS1):c.885C>T (p.Asn295=)
|
rs2038787036
|
0.00001
|
NM_002103.5(GYS1):c.941+7G>A
|
rs555810103
|
0.00001
|
NM_002294.3(LAMP2):c.1068T>C (p.Asn356=)
|
rs769643748
|
0.00001
|
NM_002294.3(LAMP2):c.1080A>G (p.Gly360=)
|
rs1476303419
|
0.00001
|
NM_002294.3(LAMP2):c.1139C>T (p.Ala380Val)
|
rs747301460
|
0.00001
|
NM_002294.3(LAMP2):c.1140G>A (p.Ala380=)
|
rs1029569080
|
0.00001
|
NM_002294.3(LAMP2):c.183+9A>G
|
rs753577843
|
0.00001
|
NM_002294.3(LAMP2):c.30G>A (p.Pro10=)
|
rs11540224
|
0.00001
|
NM_002294.3(LAMP2):c.397+8T>A
|
rs1257675921
|
0.00001
|
NM_002294.3(LAMP2):c.415G>A (p.Glu139Lys)
|
rs373007615
|
0.00001
|
NM_002294.3(LAMP2):c.461A>G (p.Asn154Ser)
|
rs773525538
|
0.00001
|
NM_002294.3(LAMP2):c.462T>C (p.Asn154=)
|
rs772164739
|
0.00001
|
NM_002294.3(LAMP2):c.556+13T>A
|
rs1380200946
|
0.00001
|
NM_002294.3(LAMP2):c.556+17T>G
|
rs1056255642
|
0.00001
|
NM_002294.3(LAMP2):c.556+20C>G
|
rs1253220845
|
0.00001
|
NM_002294.3(LAMP2):c.741+10T>C
|
rs1339351790
|
0.00001
|
NM_002294.3(LAMP2):c.768C>T (p.Pro256=)
|
rs772901542
|
0.00001
|
NM_002294.3(LAMP2):c.885T>C (p.Tyr295=)
|
rs771546093
|
0.00001
|
NM_002294.3(LAMP2):c.959A>G (p.Tyr320Cys)
|
rs1292531971
|
0.00001
|
NM_002294.3(LAMP2):c.972C>G (p.Pro324=)
|
rs1229203142
|
0.00001
|
NM_002637.4(PHKA1):c.1137+12A>G
|
rs1556299862
|
0.00001
|
NM_002637.4(PHKA1):c.1698C>A (p.Ile566=)
|
rs369728544
|
0.00001
|
NM_002637.4(PHKA1):c.2088C>T (p.Thr696=)
|
rs1556276493
|
0.00001
|
NM_002637.4(PHKA1):c.2190C>T (p.Phe730=)
|
rs1228510553
|
0.00001
|
NM_002637.4(PHKA1):c.2625G>A (p.Ala875=)
|
rs781930090
|
0.00001
|
NM_002637.4(PHKA1):c.2763T>A (p.Gly921=)
|
rs541124093
|
0.00001
|
NM_002637.4(PHKA1):c.3144T>C (p.Asp1048=)
|
rs1556228374
|
0.00001
|
NM_002637.4(PHKA1):c.855C>T (p.Thr285=)
|
rs1004871695
|
0.00001
|
NM_002863.5(PYGL):c.1029T>G (p.Pro343=)
|
rs921178179
|
0.00001
|
NM_002863.5(PYGL):c.1970-15T>A
|
rs770476567
|
0.00001
|
NM_002863.5(PYGL):c.2070C>T (p.Ile690=)
|
rs781089811
|
0.00001
|
NM_002863.5(PYGL):c.24G>A (p.Gln8=)
|
rs769083575
|
0.00001
|
NM_002863.5(PYGL):c.993G>A (p.Pro331=)
|
rs1156602131
|
0.00001
|
NM_003384.3(VRK1):c.1011C>A (p.Gly337=)
|
rs547821991
|
0.00001
|
NM_003384.3(VRK1):c.1143G>A (p.Glu381=)
|
rs745392801
|
0.00001
|
NM_003384.3(VRK1):c.144T>C (p.Phe48=)
|
rs1887099492
|
0.00001
|
NM_003384.3(VRK1):c.264A>G (p.Gln88=)
|
rs200368952
|
0.00001
|
NM_003384.3(VRK1):c.279A>T (p.Pro93=)
|
rs765294511
|
0.00001
|
NM_003384.3(VRK1):c.286+18C>T
|
rs370335226
|
0.00001
|
NM_003384.3(VRK1):c.345G>T (p.Gly115=)
|
rs747216954
|
0.00001
|
NM_003384.3(VRK1):c.366T>C (p.Asn122=)
|
rs781389131
|
0.00001
|
NM_003384.3(VRK1):c.484-4A>G
|
rs572434615
|
0.00001
|
NM_003384.3(VRK1):c.507C>T (p.His169=)
|
rs773548929
|
0.00001
|
NM_003384.3(VRK1):c.576+9A>G
|
rs978347799
|
0.00001
|
NM_003384.3(VRK1):c.577-4A>G
|
rs1194395636
|
0.00001
|
NM_003384.3(VRK1):c.588A>T (p.Val196=)
|
rs1387075963
|
0.00001
|
NM_003384.3(VRK1):c.618A>G (p.Pro206=)
|
rs773555796
|
0.00001
|
NM_003384.3(VRK1):c.639C>T (p.Tyr213=)
|
rs1217274457
|
0.00001
|
NM_003384.3(VRK1):c.66A>G (p.Gln22=)
|
rs146973955
|
0.00001
|
NM_003384.3(VRK1):c.699C>T (p.His233=)
|
rs1372315924
|
0.00001
|
NM_003384.3(VRK1):c.709+10T>C
|
rs1468277298
|
0.00001
|
NM_003384.3(VRK1):c.709+9G>A
|
rs1202671679
|
0.00001
|
NM_003384.3(VRK1):c.710-14T>C
|
rs1275418589
|
0.00001
|
NM_003384.3(VRK1):c.710-9C>A
|
rs757724286
|
0.00001
|
NM_003384.3(VRK1):c.726T>C (p.Gly242=)
|
rs562273268
|
0.00001
|
NM_003384.3(VRK1):c.72A>C (p.Ala24=)
|
rs147698530
|
0.00001
|
NM_003384.3(VRK1):c.828T>C (p.Ile276=)
|
rs1334577291
|
0.00001
|
NM_003384.3(VRK1):c.830+10A>G
|
rs544437757
|
0.00001
|
NM_003384.3(VRK1):c.831-12A>G
|
rs1555361641
|
0.00001
|
NM_003384.3(VRK1):c.831-18T>A
|
rs746301651
|
0.00001
|
NM_003384.3(VRK1):c.846T>C (p.Ile282=)
|
rs759546376
|
0.00001
|
NM_003384.3(VRK1):c.966C>T (p.Asp322=)
|
rs1302769997
|
0.00001
|
NM_003384.3(VRK1):c.99A>C (p.Ala33=)
|
rs1461516851
|
0.00001
|
NM_004130.4(GYG1):c.1002A>C (p.Gly334=)
|
rs747131744
|
0.00001
|
NM_004130.4(GYG1):c.143+12G>A
|
rs758525579
|
0.00001
|
NM_004130.4(GYG1):c.144-19C>A
|
rs777012497
|
0.00001
|
NM_004130.4(GYG1):c.252G>A (p.Leu84=)
|
rs747087827
|
0.00001
|
NM_004130.4(GYG1):c.294T>C (p.Cys98=)
|
rs1371218892
|
0.00001
|
NM_004130.4(GYG1):c.309A>G (p.Ala103=)
|
rs1349302553
|
0.00001
|
NM_004130.4(GYG1):c.663T>C (p.Asn221=)
|
rs1273314125
|
0.00001
|
NM_004130.4(GYG1):c.7+8C>T
|
rs773682836
|
0.00001
|
NM_004130.4(GYG1):c.996T>C (p.Tyr332=)
|
rs367851689
|
0.00001
|
NM_005271.5(GLUD1):c.1515C>T (p.Ile505=)
|
rs774771496
|
0.00001
|
NM_005271.5(GLUD1):c.168G>A (p.Ala56=)
|
rs930453131
|
0.00001
|
NM_005271.5(GLUD1):c.200T>C (p.Phe67Ser)
|
rs1401755923
|
0.00001
|
NM_005271.5(GLUD1):c.527-12C>T
|
rs780201965
|
0.00001
|
NM_005271.5(GLUD1):c.594G>A (p.Leu198=)
|
rs781638449
|
0.00001
|
NM_005271.5(GLUD1):c.635A>G (p.Lys212Arg)
|
rs761375132
|
0.00001
|
NM_005327.7(HADH):c.159A>G (p.Val53=)
|
rs148846625
|
0.00001
|
NM_005327.7(HADH):c.579A>G (p.Thr193=)
|
rs762771153
|
0.00001
|
NM_005327.7(HADH):c.696G>A (p.Arg232=)
|
rs747476251
|
0.00001
|
NM_005327.7(HADH):c.72G>A (p.Lys24=)
|
rs781319494
|
0.00001
|
NM_005566.4(LDHA):c.222A>G (p.Thr74=)
|
rs201254300
|
0.00001
|
NM_005566.4(LDHA):c.285G>A (p.Thr95=)
|
rs202160072
|
0.00001
|
NM_005566.4(LDHA):c.291G>A (p.Gly97=)
|
rs200724597
|
0.00001
|
NM_005609.4(PYGM):c.1000-10C>T
|
rs749114783
|
0.00001
|
NM_005609.4(PYGM):c.1005C>T (p.Ala335=)
|
rs773605626
|
0.00001
|
NM_005609.4(PYGM):c.1011G>A (p.Gln337=)
|
rs767039732
|
0.00001
|
NM_005609.4(PYGM):c.1044C>T (p.Pro348=)
|
rs763750599
|
0.00001
|
NM_005609.4(PYGM):c.1092+15C>T
|
rs1319046232
|
0.00001
|
NM_005609.4(PYGM):c.1092+7T>G
|
rs1565535891
|
0.00001
|
NM_005609.4(PYGM):c.1093-10C>T
|
rs763253788
|
0.00001
|
NM_005609.4(PYGM):c.1095G>A (p.Ala365=)
|
rs1370804680
|
0.00001
|
NM_005609.4(PYGM):c.1146C>T (p.Pro382=)
|
rs767963946
|
0.00001
|
NM_005609.4(PYGM):c.1167G>A (p.Pro389=)
|
rs775798000
|
0.00001
|
NM_005609.4(PYGM):c.1239+7C>T
|
rs1382003123
|
0.00001
|
NM_005609.4(PYGM):c.1248G>A (p.Ala416=)
|
rs1439165952
|
0.00001
|
NM_005609.4(PYGM):c.1251C>T (p.Ala417=)
|
rs1328262607
|
0.00001
|
NM_005609.4(PYGM):c.1276C>T (p.Leu426=)
|
rs1222482593
|
0.00001
|
NM_005609.4(PYGM):c.1278G>A (p.Leu426=)
|
rs1364173099
|
0.00001
|
NM_005609.4(PYGM):c.1290G>A (p.Ser430=)
|
rs1039138727
|
0.00001
|
NM_005609.4(PYGM):c.1305C>T (p.Gly435=)
|
rs1433618435
|
0.00001
|
NM_005609.4(PYGM):c.1308A>G (p.Ala436=)
|
rs912122302
|
0.00001
|
NM_005609.4(PYGM):c.1317C>T (p.Arg439=)
|
rs2058372225
|
0.00001
|
NM_005609.4(PYGM):c.1365C>T (p.Gly455=)
|
rs1056780
|
0.00001
|
NM_005609.4(PYGM):c.1383C>T (p.Ser461=)
|
rs775978754
|
0.00001
|
NM_005609.4(PYGM):c.1395G>A (p.Lys465=)
|
rs555057489
|
0.00001
|
NM_005609.4(PYGM):c.1518+9C>G
|
rs1210456408
|
0.00001
|
NM_005609.4(PYGM):c.1519-10C>T
|
rs749087795
|
0.00001
|
NM_005609.4(PYGM):c.1519-4A>G
|
rs1359033480
|
0.00001
|
NM_005609.4(PYGM):c.1575T>C (p.Phe525=)
|
rs371787613
|
0.00001
|
NM_005609.4(PYGM):c.1620+15A>C
|
rs1463934943
|
0.00001
|
NM_005609.4(PYGM):c.1621-14G>A
|
rs770892872
|
0.00001
|
NM_005609.4(PYGM):c.1761G>A (p.Leu587=)
|
rs1395637502
|
0.00001
|
NM_005609.4(PYGM):c.1768+9C>T
|
rs1415602372
|
0.00001
|
NM_005609.4(PYGM):c.1769-10T>G
|
rs1565534037
|
0.00001
|
NM_005609.4(PYGM):c.1827+9C>T
|
rs765020570
|
0.00001
|
NM_005609.4(PYGM):c.1828-5C>T
|
rs775492066
|
0.00001
|
NM_005609.4(PYGM):c.183C>T (p.Arg61=)
|
rs1182278359
|
0.00001
|
NM_005609.4(PYGM):c.1944C>T (p.Asn648=)
|
rs748710834
|
0.00001
|
NM_005609.4(PYGM):c.1953C>T (p.Val651=)
|
rs2058354200
|
0.00001
|
NM_005609.4(PYGM):c.1962C>T (p.Ala654=)
|
rs368964406
|
0.00001
|
NM_005609.4(PYGM):c.1970-5C>T
|
rs1414755282
|
0.00001
|
NM_005609.4(PYGM):c.198G>C (p.Gly66=)
|
rs776064700
|
0.00001
|
NM_005609.4(PYGM):c.2070T>C (p.Ile690=)
|
rs766360254
|
0.00001
|
NM_005609.4(PYGM):c.2082C>T (p.Asp694=)
|
rs773543072
|
0.00001
|
NM_005609.4(PYGM):c.2121A>G (p.Glu707=)
|
rs746678142
|
0.00001
|
NM_005609.4(PYGM):c.2136T>C (p.Phe712=)
|
rs2058346910
|
0.00001
|
NM_005609.4(PYGM):c.2177+8G>A
|
rs775261125
|
0.00001
|
NM_005609.4(PYGM):c.2271C>T (p.Asp757=)
|
rs1312751218
|
0.00001
|
NM_005609.4(PYGM):c.2274G>A (p.Leu758=)
|
rs765011069
|
0.00001
|
NM_005609.4(PYGM):c.2313-4C>T
|
rs1163053695
|
0.00001
|
NM_005609.4(PYGM):c.2322C>T (p.Val774=)
|
rs1045215677
|
0.00001
|
NM_005609.4(PYGM):c.2325C>T (p.Phe775=)
|
rs1251258706
|
0.00001
|
NM_005609.4(PYGM):c.2364C>T (p.Val788=)
|
rs1162487973
|
0.00001
|
NM_005609.4(PYGM):c.2397G>A (p.Thr799=)
|
rs374322115
|
0.00001
|
NM_005609.4(PYGM):c.2406G>C (p.Val802=)
|
rs1166335998
|
0.00001
|
NM_005609.4(PYGM):c.2424C>T (p.Thr808=)
|
rs769860534
|
0.00001
|
NM_005609.4(PYGM):c.2427T>C (p.Ser809=)
|
rs746117656
|
0.00001
|
NM_005609.4(PYGM):c.244-7T>C
|
rs773415576
|
0.00001
|
NM_005609.4(PYGM):c.2451C>T (p.Thr817=)
|
rs2058311690
|
0.00001
|
NM_005609.4(PYGM):c.2466C>T (p.Ala822=)
|
rs778504471
|
0.00001
|
NM_005609.4(PYGM):c.2514G>A (p.Pro838=)
|
rs759671853
|
0.00001
|
NM_005609.4(PYGM):c.256C>T (p.Leu86=)
|
rs541817643
|
0.00001
|
NM_005609.4(PYGM):c.285G>A (p.Thr95=)
|
rs1392346032
|
0.00001
|
NM_005609.4(PYGM):c.30A>G (p.Lys10=)
|
rs140938550
|
0.00001
|
NM_005609.4(PYGM):c.327T>C (p.Cys109=)
|
rs1488873157
|
0.00001
|
NM_005609.4(PYGM):c.346-20T>G
|
rs1025560272
|
0.00001
|
NM_005609.4(PYGM):c.352C>T (p.Leu118=)
|
rs770341565
|
0.00001
|
NM_005609.4(PYGM):c.489G>A (p.Glu163=)
|
rs767119000
|
0.00001
|
NM_005609.4(PYGM):c.657A>G (p.Thr219=)
|
rs754590975
|
0.00001
|
NM_005609.4(PYGM):c.687G>A (p.Thr229=)
|
rs764624576
|
0.00001
|
NM_005609.4(PYGM):c.723C>T (p.Thr241=)
|
rs772848708
|
0.00001
|
NM_005609.4(PYGM):c.773-18C>T
|
rs758771932
|
0.00001
|
NM_005609.4(PYGM):c.773-6C>T
|
rs1367711630
|
0.00001
|
NM_005609.4(PYGM):c.773-7C>T
|
rs1413766441
|
0.00001
|
NM_005609.4(PYGM):c.84G>A (p.Leu28=)
|
rs752615989
|
0.00001
|
NM_005609.4(PYGM):c.856-8G>A
|
rs759072956
|
0.00001
|
NM_005609.4(PYGM):c.861C>T (p.Phe287=)
|
rs768833092
|
0.00001
|
NM_005609.4(PYGM):c.963T>C (p.Asp321=)
|
rs772678994
|
0.00001
|
NM_005609.4(PYGM):c.975G>A (p.Thr325=)
|
rs747106887
|
0.00001
|
NM_005908.4(MANBA):c.1112+8A>C
|
rs752741187
|
0.00001
|
NM_005908.4(MANBA):c.1112+9T>C
|
rs528890323
|
0.00001
|
NM_005908.4(MANBA):c.111G>T (p.Ser37=)
|
rs927918838
|
0.00001
|
NM_005908.4(MANBA):c.168C>T (p.Gly56=)
|
rs373360398
|
0.00001
|
NM_005908.4(MANBA):c.1746A>T (p.Ser582=)
|
rs1730293546
|
0.00001
|
NM_005908.4(MANBA):c.2115T>C (p.Tyr705=)
|
rs180816849
|
0.00001
|
NM_005908.4(MANBA):c.420T>C (p.Ile140=)
|
rs1258519531
|
0.00001
|
NM_005908.4(MANBA):c.674-9A>G
|
rs753271164
|
0.00001
|
NM_005908.4(MANBA):c.690G>A (p.Glu230=)
|
rs147662779
|
0.00001
|
NM_006765.4(TUSC3):c.139-6T>C
|
rs1033112526
|
0.00001
|
NM_006765.4(TUSC3):c.309-8C>G
|
rs771541606
|
0.00001
|
NM_006765.4(TUSC3):c.648T>C (p.Tyr216=)
|
rs759856125
|
0.00001
|
NM_006859.4(LIAS):c.1029T>C (p.Thr343=)
|
rs777324779
|
0.00001
|
NM_006859.4(LIAS):c.138A>G (p.Gln46=)
|
rs1040093656
|
0.00001
|
NM_006859.4(LIAS):c.186T>C (p.Tyr62=)
|
rs1166998501
|
0.00001
|
NM_006859.4(LIAS):c.18G>A (p.Gly6=)
|
rs774040503
|
0.00001
|
NM_006859.4(LIAS):c.24A>G (p.Ala8=)
|
rs750426614
|
0.00001
|
NM_006859.4(LIAS):c.330A>T (p.Arg110=)
|
rs757501311
|
0.00001
|
NM_006859.4(LIAS):c.378C>T (p.Ala126=)
|
rs1190479485
|
0.00001
|
NM_006859.4(LIAS):c.387G>A (p.Thr129=)
|
rs746196972
|
0.00001
|
NM_006859.4(LIAS):c.405C>T (p.Asp135=)
|
rs1458548365
|
0.00001
|
NM_006859.4(LIAS):c.529C>T (p.Leu177=)
|
rs750168413
|
0.00001
|
NM_006859.4(LIAS):c.608+13G>A
|
rs1003800399
|
0.00001
|
NM_006859.4(LIAS):c.69C>T (p.Ser23=)
|
rs946086496
|
0.00001
|
NM_006859.4(LIAS):c.737+10T>G
|
rs773328488
|
0.00001
|
NM_006859.4(LIAS):c.737+8C>T
|
rs984126692
|
0.00001
|
NM_006859.4(LIAS):c.738-9G>A
|
rs1256747817
|
0.00001
|
NM_006859.4(LIAS):c.789A>G (p.Lys263=)
|
rs1234796638
|
0.00001
|
NM_006859.4(LIAS):c.81G>A (p.Pro27=)
|
rs760501971
|
0.00001
|
NM_006859.4(LIAS):c.867A>G (p.Val289=)
|
rs745794858
|
0.00001
|
NM_006859.4(LIAS):c.883+17A>G
|
rs768249393
|
0.00001
|
NM_006859.4(LIAS):c.884-18G>A
|
rs754933240
|
0.00001
|
NM_006859.4(LIAS):c.884-4A>G
|
rs1182861876
|
0.00001
|
NM_006859.4(LIAS):c.884-5T>A
|
rs374449188
|
0.00001
|
NM_006859.4(LIAS):c.916T>C (p.Leu306=)
|
rs779455306
|
0.00001
|
NM_012434.5(SLC17A5):c.1272C>A (p.Ile424=)
|
rs374241516
|
0.00001
|
NM_012434.5(SLC17A5):c.1284C>T (p.Ile428=)
|
rs1475561276
|
0.00001
|
NM_012434.5(SLC17A5):c.12G>C (p.Pro4=)
|
rs1769990764
|
0.00001
|
NM_012434.5(SLC17A5):c.1320G>A (p.Gly440=)
|
rs373258092
|
0.00001
|
NM_012434.5(SLC17A5):c.1339C>T (p.Leu447=)
|
rs1303680695
|
0.00001
|
NM_012434.5(SLC17A5):c.1380C>T (p.Phe460=)
|
rs1224327278
|
0.00001
|
NM_012434.5(SLC17A5):c.1425A>G (p.Thr475=)
|
rs763107462
|
0.00001
|
NM_012434.5(SLC17A5):c.1428A>G (p.Leu476=)
|
rs770266444
|
0.00001
|
NM_012434.5(SLC17A5):c.1431C>T (p.Phe477=)
|
rs1382310721
|
0.00001
|
NM_012434.5(SLC17A5):c.1446A>T (p.Val482=)
|
rs1766733249
|
0.00001
|
NM_012434.5(SLC17A5):c.264T>G (p.Ala88=)
|
rs777927222
|
0.00001
|
NM_012434.5(SLC17A5):c.336C>T (p.Leu112=)
|
rs1367019593
|
0.00001
|
NM_012434.5(SLC17A5):c.444C>G (p.Val148=)
|
rs754150320
|
0.00001
|
NM_012434.5(SLC17A5):c.468T>C (p.Ala156=)
|
rs760346305
|
0.00001
|
NM_012434.5(SLC17A5):c.519A>C (p.Leu173=)
|
rs377101723
|
0.00001
|
NM_012434.5(SLC17A5):c.525+14C>T
|
rs1033538167
|
0.00001
|
NM_012434.5(SLC17A5):c.573C>G (p.Pro191=)
|
rs924683894
|
0.00001
|
NM_012434.5(SLC17A5):c.645T>A (p.Pro215=)
|
rs1253015994
|
0.00001
|
NM_012434.5(SLC17A5):c.700+19C>A
|
rs372789949
|
0.00001
|
NM_012434.5(SLC17A5):c.820-8T>A
|
rs963486778
|
0.00001
|
NM_012434.5(SLC17A5):c.95-17C>T
|
rs775914101
|
0.00001
|
NM_016042.4(EXOSC3):c.325-6T>C
|
rs375827861
|
0.00001
|
NM_016042.4(EXOSC3):c.336A>G (p.Val112=)
|
rs1459576809
|
0.00001
|
NM_016042.4(EXOSC3):c.405G>T (p.Gly135=)
|
rs1828647334
|
0.00001
|
NM_016042.4(EXOSC3):c.813A>G (p.Arg271=)
|
rs373942170
|
0.00001
|
NM_016203.4(PRKAG2):c.1005+11C>T
|
rs776445450
|
0.00001
|
NM_016203.4(PRKAG2):c.1020A>G (p.Glu340=)
|
rs770773856
|
0.00001
|
NM_016203.4(PRKAG2):c.1052-12C>A
|
rs957043389
|
0.00001
|
NM_016203.4(PRKAG2):c.1071A>T (p.Thr357=)
|
rs397517260
|
0.00001
|
NM_016203.4(PRKAG2):c.1106+17T>C
|
rs769793016
|
0.00001
|
NM_016203.4(PRKAG2):c.1116T>C (p.Asp372=)
|
rs1359495243
|
0.00001
|
NM_016203.4(PRKAG2):c.114+20C>T
|
rs113978561
|
0.00001
|
NM_016203.4(PRKAG2):c.117C>T (p.Asp39=)
|
rs1220899353
|
0.00001
|
NM_016203.4(PRKAG2):c.1191T>C (p.Tyr397=)
|
rs749218393
|
0.00001
|
NM_016203.4(PRKAG2):c.1200C>T (p.Thr400=)
|
rs779897567
|
0.00001
|
NM_016203.4(PRKAG2):c.1233+15G>A
|
rs756832099
|
0.00001
|
NM_016203.4(PRKAG2):c.1233+9T>C
|
rs780770792
|
0.00001
|
NM_016203.4(PRKAG2):c.1234-7C>T
|
rs1456377814
|
0.00001
|
NM_016203.4(PRKAG2):c.1254T>C (p.Pro418=)
|
rs753059650
|
0.00001
|
NM_016203.4(PRKAG2):c.1371A>T (p.Ile457=)
|
rs755421350
|
0.00001
|
NM_016203.4(PRKAG2):c.1389G>C (p.Val463=)
|
rs754270654
|
0.00001
|
NM_016203.4(PRKAG2):c.1400-8A>G
|
rs1488159582
|
0.00001
|
NM_016203.4(PRKAG2):c.141C>T (p.Leu47=)
|
rs1244792476
|
0.00001
|
NM_016203.4(PRKAG2):c.1422C>T (p.Ser474=)
|
rs1584941245
|
0.00001
|
NM_016203.4(PRKAG2):c.1438-20A>G
|
rs146491414
|
0.00001
|
NM_016203.4(PRKAG2):c.1438-5T>C
|
rs190863830
|
0.00001
|
NM_016203.4(PRKAG2):c.1440T>C (p.Asn480=)
|
rs397517265
|
0.00001
|
NM_016203.4(PRKAG2):c.1479G>A (p.Thr493=)
|
rs367768776
|
0.00001
|
NM_016203.4(PRKAG2):c.1620T>C (p.Ser540=)
|
rs1196648905
|
0.00001
|
NM_016203.4(PRKAG2):c.186+12T>C
|
rs374155169
|
0.00001
|
NM_016203.4(PRKAG2):c.186+7C>T
|
rs886062102
|
0.00001
|
NM_016203.4(PRKAG2):c.202G>A (p.Gly68Ser)
|
rs730880970
|
0.00001
|
NM_016203.4(PRKAG2):c.210C>A (p.Gly70=)
|
rs1421160665
|
0.00001
|
NM_016203.4(PRKAG2):c.222A>G (p.Lys74=)
|
rs1265668637
|
0.00001
|
NM_016203.4(PRKAG2):c.246G>T (p.Gln82His)
|
rs1182448951
|
0.00001
|
NM_016203.4(PRKAG2):c.253C>T (p.Pro85Ser)
|
rs754570613
|
0.00001
|
NM_016203.4(PRKAG2):c.331C>A (p.Gln111Lys)
|
rs778331706
|
0.00001
|
NM_016203.4(PRKAG2):c.347G>T (p.Arg116Leu)
|
rs369471907
|
0.00001
|
NM_016203.4(PRKAG2):c.38A>G (p.Asp13Gly)
|
rs768453540
|
0.00001
|
NM_016203.4(PRKAG2):c.390C>G (p.Ser130=)
|
rs1400706351
|
0.00001
|
NM_016203.4(PRKAG2):c.393C>T (p.Ser131=)
|
rs1057520352
|
0.00001
|
NM_016203.4(PRKAG2):c.406C>G (p.Pro136Ala)
|
rs1386603764
|
0.00001
|
NM_016203.4(PRKAG2):c.410A>G (p.Asn137Ser)
|
rs869025498
|
0.00001
|
NM_016203.4(PRKAG2):c.42T>A (p.Val14=)
|
rs141316327
|
0.00001
|
NM_016203.4(PRKAG2):c.466+17A>G
|
rs770673359
|
0.00001
|
NM_016203.4(PRKAG2):c.466+19T>C
|
rs376621063
|
0.00001
|
NM_016203.4(PRKAG2):c.466+7C>A
|
rs397517272
|
0.00001
|
NM_016203.4(PRKAG2):c.467-15G>A
|
rs139162723
|
0.00001
|
NM_016203.4(PRKAG2):c.522G>A (p.Thr174=)
|
rs558951955
|
0.00001
|
NM_016203.4(PRKAG2):c.546C>T (p.His182=)
|
rs1221506447
|
0.00001
|
NM_016203.4(PRKAG2):c.556C>A (p.Arg186=)
|
rs200392688
|
0.00001
|
NM_016203.4(PRKAG2):c.570C>T (p.Arg190=)
|
rs141191531
|
0.00001
|
NM_016203.4(PRKAG2):c.582G>A (p.Ser194=)
|
rs756215060
|
0.00001
|
NM_016203.4(PRKAG2):c.585T>A (p.Ser195=)
|
rs781522393
|
0.00001
|
NM_016203.4(PRKAG2):c.592C>T (p.Pro198Ser)
|
rs753859556
|
0.00001
|
NM_016203.4(PRKAG2):c.632G>A (p.Ser211Asn)
|
rs768909087
|
0.00001
|
NM_016203.4(PRKAG2):c.636G>A (p.Pro212=)
|
rs149820808
|
0.00001
|
NM_016203.4(PRKAG2):c.640A>G (p.Arg214Gly)
|
rs730880987
|
0.00001
|
NM_016203.4(PRKAG2):c.648A>G (p.Pro216=)
|
rs751742816
|
0.00001
|
NM_016203.4(PRKAG2):c.660G>A (p.Pro220=)
|
rs774279454
|
0.00001
|
NM_016203.4(PRKAG2):c.685-12C>T
|
rs1824697718
|
0.00001
|
NM_016203.4(PRKAG2):c.685-7C>A
|
rs397517278
|
0.00001
|
NM_016203.4(PRKAG2):c.703C>T (p.Leu235=)
|
rs1476121151
|
0.00001
|
NM_016203.4(PRKAG2):c.713C>T (p.Ala238Val)
|
rs1184637689
|
0.00001
|
NM_016203.4(PRKAG2):c.732G>A (p.Glu244=)
|
rs777165701
|
0.00001
|
NM_016203.4(PRKAG2):c.754+14G>T
|
rs1554507743
|
0.00001
|
NM_016203.4(PRKAG2):c.755-13T>G
|
rs1219696291
|
0.00001
|
NM_016203.4(PRKAG2):c.774T>C (p.Ser258=)
|
rs1458710152
|
0.00001
|
NM_016203.4(PRKAG2):c.804C>T (p.His268=)
|
rs1814239943
|
0.00001
|
NM_016203.4(PRKAG2):c.820G>A (p.Val274Ile)
|
rs917493455
|
0.00001
|
NM_016203.4(PRKAG2):c.866T>C (p.Val289Ala)
|
rs730880975
|
0.00001
|
NM_016203.4(PRKAG2):c.88A>C (p.Arg30=)
|
rs756923555
|
0.00001
|
NM_016203.4(PRKAG2):c.897C>T (p.Asn299=)
|
rs201876556
|
0.00001
|
NM_016203.4(PRKAG2):c.946+19A>G
|
rs745525434
|
0.00001
|
NM_016203.4(PRKAG2):c.99G>A (p.Leu33=)
|
rs1039938289
|
0.00001
|
NM_016219.5(MAN1B1):c.1110C>G (p.Ser370=)
|
rs776601946
|
0.00001
|
NM_016219.5(MAN1B1):c.1626C>T (p.Pro542=)
|
rs754107444
|
0.00001
|
NM_016219.5(MAN1B1):c.1897-10T>C
|
rs1831193942
|
0.00001
|
NM_016219.5(MAN1B1):c.1929T>C (p.Asn643=)
|
rs771302082
|
0.00001
|
NM_016219.5(MAN1B1):c.1992G>A (p.Thr664=)
|
rs747239978
|
0.00001
|
NM_016219.5(MAN1B1):c.1998G>A (p.Lys666=)
|
rs150436630
|
0.00001
|
NM_016219.5(MAN1B1):c.2016C>T (p.Phe672=)
|
rs746212127
|
0.00001
|
NM_016219.5(MAN1B1):c.621-4G>A
|
rs747603982
|
0.00001
|
NM_016219.5(MAN1B1):c.705A>G (p.Pro235=)
|
rs1342800552
|
0.00001
|
NM_016219.5(MAN1B1):c.731-9C>G
|
rs762958294
|
0.00001
|
NM_016219.5(MAN1B1):c.858C>T (p.Gly286=)
|
rs1830758562
|
0.00001
|
NM_016219.5(MAN1B1):c.882G>A (p.Ala294=)
|
rs750236367
|
0.00001
|
NM_021957.4(GYS2):c.1230-5T>G
|
rs777032042
|
0.00001
|
NM_021957.4(GYS2):c.1318T>C (p.Leu440=)
|
rs371025503
|
0.00001
|
NM_021957.4(GYS2):c.1866T>C (p.His622=)
|
rs975935766
|
0.00001
|
NM_021957.4(GYS2):c.941+16T>A
|
rs993240101
|
0.00001
|
NM_022042.4(SLC26A1):c.*1043C>T
|
rs375799555
|
0.00001
|
NM_022042.4(SLC26A1):c.*874C>T
|
rs775172497
|
0.00001
|
NM_022042.4(SLC26A1):c.*876C>T
|
rs546988577
|
0.00001
|
NM_024989.4(PGAP1):c.1090-4G>A
|
rs745651606
|
0.00001
|
NM_024989.4(PGAP1):c.1209C>T (p.Ser403=)
|
rs1020678750
|
0.00001
|
NM_024989.4(PGAP1):c.148-18A>G
|
rs767260257
|
0.00001
|
NM_024989.4(PGAP1):c.2313A>G (p.Thr771=)
|
rs765668457
|
0.00001
|
NM_024989.4(PGAP1):c.2338-13T>C
|
rs779092825
|
0.00001
|
NM_024989.4(PGAP1):c.2388C>T (p.Asp796=)
|
rs768328398
|
0.00001
|
NM_024989.4(PGAP1):c.2655A>G (p.Gln885=)
|
rs778039608
|
0.00001
|
NM_024989.4(PGAP1):c.301+15A>C
|
rs926876742
|
0.00001
|
NM_024989.4(PGAP1):c.39T>C (p.Phe13=)
|
rs1322336391
|
0.00001
|
NM_024989.4(PGAP1):c.585T>C (p.Asn195=)
|
rs1038323136
|
0.00001
|
NM_024989.4(PGAP1):c.849C>G (p.Leu283=)
|
rs868315664
|
0.00001
|
NM_024989.4(PGAP1):c.927+17T>C
|
rs1429743943
|
0.00001
|
NM_031229.4(RBCK1):c.1030-11T>C
|
rs1347263782
|
0.00001
|
NM_031229.4(RBCK1):c.1068G>T (p.Leu356=)
|
rs1244813118
|
0.00001
|
NM_031229.4(RBCK1):c.1209+17C>T
|
rs2016795068
|
0.00001
|
NM_031229.4(RBCK1):c.1272C>T (p.Asn424=)
|
rs370138905
|
0.00001
|
NM_031229.4(RBCK1):c.1309-18G>C
|
rs1031466010
|
0.00001
|
NM_031229.4(RBCK1):c.1326C>T (p.Gly442=)
|
rs1437187965
|
0.00001
|
NM_031229.4(RBCK1):c.1395C>T (p.Cys465=)
|
rs762116740
|
0.00001
|
NM_031229.4(RBCK1):c.1410C>T (p.Thr470=)
|
rs369912362
|
0.00001
|
NM_031229.4(RBCK1):c.1452+14C>T
|
rs1465505607
|
0.00001
|
NM_031229.4(RBCK1):c.1452+15G>A
|
rs569310074
|
0.00001
|
NM_031229.4(RBCK1):c.171G>A (p.Leu57=)
|
rs539510245
|
0.00001
|
NM_031229.4(RBCK1):c.333G>A (p.Gln111=)
|
rs758405216
|
0.00001
|
NM_031229.4(RBCK1):c.477C>T (p.Asp159=)
|
rs1301599917
|
0.00001
|
NM_031229.4(RBCK1):c.603G>A (p.Gly201=)
|
rs1206906907
|
0.00001
|
NM_031229.4(RBCK1):c.609C>T (p.Thr203=)
|
rs2016242054
|
0.00001
|
NM_031229.4(RBCK1):c.757-6G>T
|
rs1391498500
|
0.00001
|
NM_031229.4(RBCK1):c.876C>T (p.Gly292=)
|
rs767353266
|
0.00001
|
NM_031229.4(RBCK1):c.906C>T (p.His302=)
|
rs1273262609
|
0.00001
|
NM_031229.4(RBCK1):c.917+19C>T
|
rs1473845806
|
0.00001
|
NM_031229.4(RBCK1):c.987C>G (p.Thr329=)
|
rs778332884
|
0.00001
|
NM_033159.4(HYAL1):c.1044C>T (p.Ile348=)
|
rs372595265
|
0.00001
|
NM_033159.4(HYAL1):c.1047G>C (p.Leu349=)
|
rs782279681
|
0.00001
|
NM_033159.4(HYAL1):c.1092C>T (p.Ser364=)
|
rs782610786
|
0.00001
|
NM_033159.4(HYAL1):c.1098T>C (p.His366=)
|
rs1702096627
|
0.00001
|
NM_033159.4(HYAL1):c.1128C>T (p.Pro376=)
|
rs781894836
|
0.00001
|
NM_033159.4(HYAL1):c.12C>T (p.His4=)
|
rs202199091
|
0.00001
|
NM_033159.4(HYAL1):c.159C>T (p.Val53=)
|
rs1428586805
|
0.00001
|
NM_033159.4(HYAL1):c.189G>A (p.Gly63=)
|
rs1553713387
|
0.00001
|
NM_033159.4(HYAL1):c.204C>T (p.Gly68=)
|
rs375395138
|
0.00001
|
NM_033159.4(HYAL1):c.222C>T (p.Phe74=)
|
rs1559820613
|
0.00001
|
NM_033159.4(HYAL1):c.252C>T (p.Tyr84=)
|
rs782128403
|
0.00001
|
NM_033159.4(HYAL1):c.27C>T (p.Cys9=)
|
rs781916060
|
0.00001
|
NM_033159.4(HYAL1):c.327A>G (p.Thr109=)
|
rs1553713301
|
0.00001
|
NM_033159.4(HYAL1):c.408C>T (p.Arg136=)
|
rs782343934
|
0.00001
|
NM_033159.4(HYAL1):c.48C>T (p.Leu16=)
|
rs377440947
|
0.00001
|
NM_033159.4(HYAL1):c.498G>A (p.Gln166=)
|
rs200077067
|
0.00001
|
NM_033159.4(HYAL1):c.543C>T (p.Ala181=)
|
rs782012779
|
0.00001
|
NM_033159.4(HYAL1):c.630T>C (p.Tyr210=)
|
rs781838448
|
0.00001
|
NM_033159.4(HYAL1):c.654C>T (p.Thr218=)
|
rs782051318
|
0.00001
|
NM_033159.4(HYAL1):c.663C>T (p.Cys221=)
|
rs374889084
|
0.00001
|
NM_033159.4(HYAL1):c.694C>T (p.Leu232=)
|
rs1553713126
|
0.00001
|
NM_033159.4(HYAL1):c.699G>A (p.Gly233=)
|
rs200718831
|
0.00001
|
NM_033159.4(HYAL1):c.69G>A (p.Arg23=)
|
rs1553713459
|
0.00001
|
NM_033159.4(HYAL1):c.726C>G (p.Leu242=)
|
rs781796869
|
0.00001
|
NM_033159.4(HYAL1):c.738C>T (p.Ile246=)
|
rs1391982334
|
0.00001
|
NM_033159.4(HYAL1):c.84C>T (p.Pro28=)
|
rs782588575
|
0.00001
|
NM_033159.4(HYAL1):c.873T>C (p.Tyr291=)
|
rs1239417242
|
0.00001
|
NM_033159.4(HYAL1):c.879G>A (p.Thr293=)
|
rs1553713033
|
0.00001
|
NM_033159.4(HYAL1):c.901-8C>A
|
rs1402365646
|
0.00001
|
NM_033159.4(HYAL1):c.909G>A (p.Leu303=)
|
rs1354541662
|
0.00001
|
NM_033159.4(HYAL1):c.933G>A (p.Ala311=)
|
rs200373793
|
0.00001
|
NM_033159.4(HYAL1):c.991-8C>G
|
rs781831071
|
0.00001
|
NM_053013.4(ENO3):c.241-11C>T
|
rs769465776
|
0.00001
|
NM_053013.4(ENO3):c.363G>A (p.Ala121=)
|
rs201872558
|
0.00001
|
NM_053013.4(ENO3):c.444+17G>A
|
rs757072121
|
0.00001
|
NM_053013.4(ENO3):c.444+9A>G
|
rs567523833
|
0.00001
|
NM_053013.4(ENO3):c.66G>A (p.Val22=)
|
rs373571348
|
0.00001
|
NM_152419.3(HGSNAT):c.1002C>T (p.Cys334=)
|
rs747338801
|
0.00001
|
NM_152419.3(HGSNAT):c.1008T>A (p.Gly336=)
|
rs748217780
|
0.00001
|
NM_152419.3(HGSNAT):c.1012+10T>A
|
rs372410947
|
0.00001
|
NM_152419.3(HGSNAT):c.1013-12T>G
|
rs199736308
|
0.00001
|
NM_152419.3(HGSNAT):c.1045C>T (p.Leu349=)
|
rs767921078
|
0.00001
|
NM_152419.3(HGSNAT):c.1107T>C (p.Pro369=)
|
rs1401712530
|
0.00001
|
NM_152419.3(HGSNAT):c.111G>A (p.Pro37=)
|
rs886062953
|
0.00001
|
NM_152419.3(HGSNAT):c.1129-5C>T
|
rs1220052687
|
0.00001
|
NM_152419.3(HGSNAT):c.1129-7C>T
|
rs756262049
|
0.00001
|
NM_152419.3(HGSNAT):c.1155C>T (p.Asp385=)
|
rs768343523
|
0.00001
|
NM_152419.3(HGSNAT):c.1161G>A (p.Thr387=)
|
rs761414980
|
0.00001
|
NM_152419.3(HGSNAT):c.118+10C>A
|
rs768117824
|
0.00001
|
NM_152419.3(HGSNAT):c.1224C>T (p.Phe408=)
|
rs779284289
|
0.00001
|
NM_152419.3(HGSNAT):c.1251-16C>G
|
rs371770607
|
0.00001
|
NM_152419.3(HGSNAT):c.1290G>A (p.Lys430=)
|
rs748987930
|
0.00001
|
NM_152419.3(HGSNAT):c.1302C>T (p.Cys434=)
|
rs759417010
|
0.00001
|
NM_152419.3(HGSNAT):c.1359C>T (p.Tyr453=)
|
rs376647117
|
0.00001
|
NM_152419.3(HGSNAT):c.1368A>G (p.Pro456=)
|
rs1411732379
|
0.00001
|
NM_152419.3(HGSNAT):c.1377+7G>C
|
rs1225445756
|
0.00001
|
NM_152419.3(HGSNAT):c.1392C>T (p.Thr464=)
|
rs767972481
|
0.00001
|
NM_152419.3(HGSNAT):c.1410C>T (p.Pro470=)
|
rs779611596
|
0.00001
|
NM_152419.3(HGSNAT):c.1440C>T (p.Ile480=)
|
rs779933668
|
0.00001
|
NM_152419.3(HGSNAT):c.1465-14G>A
|
rs1484663572
|
0.00001
|
NM_152419.3(HGSNAT):c.1543-20C>A
|
rs201435854
|
0.00001
|
NM_152419.3(HGSNAT):c.1543-7A>G
|
rs781471935
|
0.00001
|
NM_152419.3(HGSNAT):c.1545G>A (p.Gly515=)
|
rs1440154264
|
0.00001
|
NM_152419.3(HGSNAT):c.1632T>C (p.Thr544=)
|
rs757706222
|
0.00001
|
NM_152419.3(HGSNAT):c.1669C>T (p.Leu557=)
|
rs761500930
|
0.00001
|
NM_152419.3(HGSNAT):c.1698G>A (p.Leu566=)
|
rs752785040
|
0.00001
|
NM_152419.3(HGSNAT):c.1727-13C>G
|
rs747875081
|
0.00001
|
NM_152419.3(HGSNAT):c.1727-17A>G
|
rs780686580
|
0.00001
|
NM_152419.3(HGSNAT):c.1815C>T (p.His605=)
|
rs1249488528
|
0.00001
|
NM_152419.3(HGSNAT):c.1821G>A (p.Glu607=)
|
rs769449292
|
0.00001
|
NM_152419.3(HGSNAT):c.1907G>A (p.Ter636=)
|
rs1804852687
|
0.00001
|
NM_152419.3(HGSNAT):c.234+10A>T
|
rs1802742419
|
0.00001
|
NM_152419.3(HGSNAT):c.258C>T (p.Asn86=)
|
rs772299811
|
0.00001
|
NM_152419.3(HGSNAT):c.261T>A (p.Val87=)
|
rs1461875540
|
0.00001
|
NM_152419.3(HGSNAT):c.279A>C (p.Ala93=)
|
rs766369405
|
0.00001
|
NM_152419.3(HGSNAT):c.288T>C (p.Pro96=)
|
rs755833800
|
0.00001
|
NM_152419.3(HGSNAT):c.360A>G (p.Lys120=)
|
rs200079240
|
0.00001
|
NM_152419.3(HGSNAT):c.366T>G (p.Val122=)
|
rs1803172362
|
0.00001
|
NM_152419.3(HGSNAT):c.369T>C (p.Cys123=)
|
rs1258501549
|
0.00001
|
NM_152419.3(HGSNAT):c.39G>C (p.Leu13=)
|
rs1335563220
|
0.00001
|
NM_152419.3(HGSNAT):c.411C>G (p.Leu137=)
|
rs1051098032
|
0.00001
|
NM_152419.3(HGSNAT):c.453T>C (p.Cys151=)
|
rs763777880
|
0.00001
|
NM_152419.3(HGSNAT):c.45G>A (p.Ala15=)
|
rs1351688097
|
0.00001
|
NM_152419.3(HGSNAT):c.486T>C (p.Ser162=)
|
rs1803185644
|
0.00001
|
NM_152419.3(HGSNAT):c.48C>G (p.Ser16=)
|
rs1802479958
|
0.00001
|
NM_152419.3(HGSNAT):c.558G>A (p.Leu186=)
|
rs953533399
|
0.00001
|
NM_152419.3(HGSNAT):c.559T>C (p.Leu187=)
|
rs1408418542
|
0.00001
|
NM_152419.3(HGSNAT):c.563+7T>C
|
rs756465413
|
0.00001
|
NM_152419.3(HGSNAT):c.591T>C (p.Ser197=)
|
rs1355715592
|
0.00001
|
NM_152419.3(HGSNAT):c.60C>T (p.Ala20=)
|
rs1251787808
|
0.00001
|
NM_152419.3(HGSNAT):c.64C>T (p.Leu22=)
|
rs1164054537
|
0.00001
|
NM_152419.3(HGSNAT):c.726C>T (p.Ser242=)
|
rs181728385
|
0.00001
|
NM_152419.3(HGSNAT):c.735C>G (p.Thr245=)
|
rs997906795
|
0.00001
|
NM_152419.3(HGSNAT):c.777T>C (p.Tyr259=)
|
rs376365655
|
0.00001
|
NM_152419.3(HGSNAT):c.837C>T (p.Asp279=)
|
rs1277158595
|
0.00001
|
NM_152419.3(HGSNAT):c.849G>A (p.Pro283=)
|
rs368058038
|
0.00001
|
NM_152419.3(HGSNAT):c.851+7T>G
|
rs756810802
|
0.00001
|
NM_152419.3(HGSNAT):c.851+9C>T
|
rs755549867
|
0.00001
|
NM_152419.3(HGSNAT):c.885A>G (p.Leu295=)
|
rs200637619
|
0.00001
|
NM_152419.3(HGSNAT):c.888G>A (p.Ser296=)
|
rs780309535
|
0.00001
|
NM_152419.3(HGSNAT):c.928T>C (p.Leu310=)
|
rs1358940142
|
0.00001
|
NM_152419.3(HGSNAT):c.987G>C (p.Val329=)
|
rs1241816731
|
0.00001
|
NM_198586.3(NHLRC1):c.1065G>A (p.Pro355=)
|
rs752799460
|
0.00001
|
NM_198586.3(NHLRC1):c.1137G>T (p.Val379=)
|
rs1179677260
|
0.00001
|
NM_198586.3(NHLRC1):c.207A>G (p.Pro69=)
|
rs778080945
|
0.00001
|
NM_198586.3(NHLRC1):c.24C>T (p.Ser8=)
|
rs763202331
|
0.00001
|
NM_198586.3(NHLRC1):c.285A>G (p.Ser95=)
|
rs1057521817
|
0.00001
|
NM_198586.3(NHLRC1):c.393A>C (p.Gly131=)
|
rs1280323559
|
0.00001
|
NM_198586.3(NHLRC1):c.528C>T (p.Tyr176=)
|
rs1403101337
|
0.00001
|
NM_198586.3(NHLRC1):c.582C>T (p.Gly194=)
|
rs1258101648
|
0.00001
|
NM_198586.3(NHLRC1):c.663G>A (p.Val221=)
|
rs374108909
|
0.00001
|
NM_198586.3(NHLRC1):c.690G>A (p.Val230=)
|
rs1245001963
|
0.00001
|
NM_198586.3(NHLRC1):c.720C>T (p.His240=)
|
rs1161999387
|
0.00001
|
NM_198586.3(NHLRC1):c.729C>T (p.Asp243=)
|
rs146420615
|
0.00001
|
NM_198586.3(NHLRC1):c.741G>A (p.Ala247=)
|
rs571973789
|
0.00001
|
NM_198586.3(NHLRC1):c.819C>T (p.Thr273=)
|
rs1220104886
|
0.00001
|
NM_198586.3(NHLRC1):c.843C>T (p.His281=)
|
rs762001530
|
0.00001
|
NM_198586.3(NHLRC1):c.882G>T (p.Val294=)
|
rs1314207581
|
0.00001
|
NM_000027.4(AGA):c.1017T>G (p.Thr339=)
|
rs2111004518
|
|
NM_000027.4(AGA):c.1038C>A (p.Ile346=)
|
|
|
NM_000027.4(AGA):c.105C>T (p.Pro35=)
|
rs199757656
|
|
NM_000027.4(AGA):c.120C>A (p.Thr40=)
|
rs1560952259
|
|
NM_000027.4(AGA):c.120C>T (p.Thr40=)
|
rs1560952259
|
|
NM_000027.4(AGA):c.127+11G>A
|
|
|
NM_000027.4(AGA):c.127+12C>T
|
|
|
NM_000027.4(AGA):c.127+14G>A
|
|
|
NM_000027.4(AGA):c.127+15C>T
|
|
|
NM_000027.4(AGA):c.127+16C>G
|
|
|
NM_000027.4(AGA):c.127+8T>C
|
rs1227443826
|
|
NM_000027.4(AGA):c.127+9T>C
|
|
|
NM_000027.4(AGA):c.128-14G>C
|
|
|
NM_000027.4(AGA):c.128-18T>A
|
|
|
NM_000027.4(AGA):c.128-19A>G
|
|
|
NM_000027.4(AGA):c.128-7dup
|
rs1736960600
|
|
NM_000027.4(AGA):c.135G>A (p.Arg45=)
|
|
|
NM_000027.4(AGA):c.153C>A (p.Gly51=)
|
rs1404115808
|
|
NM_000027.4(AGA):c.159C>G (p.Ala53=)
|
|
|
NM_000027.4(AGA):c.15G>A (p.Ser5=)
|
rs777972773
|
|
NM_000027.4(AGA):c.15G>T (p.Ser5=)
|
|
|
NM_000027.4(AGA):c.165T>C (p.Asp55=)
|
|
|
NM_000027.4(AGA):c.168A>C (p.Ala56=)
|
rs2111021852
|
|
NM_000027.4(AGA):c.168A>G (p.Ala56=)
|
|
|
NM_000027.4(AGA):c.18C>T (p.Asn6=)
|
rs1579047707
|
|
NM_000027.4(AGA):c.19T>C (p.Leu7=)
|
rs2111028551
|
|
NM_000027.4(AGA):c.216T>C (p.Ser72=)
|
|
|
NM_000027.4(AGA):c.222C>T (p.Gly74=)
|
|
|
NM_000027.4(AGA):c.240T>C (p.Asp80=)
|
|
|
NM_000027.4(AGA):c.24T>G (p.Pro8=)
|
rs34413111
|
|
NM_000027.4(AGA):c.259C>T (p.Leu87=)
|
|
|
NM_000027.4(AGA):c.27G>C (p.Val9=)
|
rs764924616
|
|
NM_000027.4(AGA):c.281+11C>T
|
|
|
NM_000027.4(AGA):c.281+15C>G
|
|
|
NM_000027.4(AGA):c.281+18G>T
|
rs376346895
|
|
NM_000027.4(AGA):c.281+8C>T
|
rs2111021417
|
|
NM_000027.4(AGA):c.281+9A>G
|
rs2111021413
|
|
NM_000027.4(AGA):c.282-10T>C
|
rs2111020138
|
|
NM_000027.4(AGA):c.282-12A>G
|
|
|
NM_000027.4(AGA):c.282-17A>T
|
|
|
NM_000027.4(AGA):c.282-19G>A
|
|
|
NM_000027.4(AGA):c.282-9T>G
|
rs2111020136
|
|
NM_000027.4(AGA):c.306A>T (p.Val102=)
|
|
|
NM_000027.4(AGA):c.319C>A (p.Arg107=)
|
rs765070743
|
|
NM_000027.4(AGA):c.330T>C (p.Asn110=)
|
|
|
NM_000027.4(AGA):c.33C>T (p.Leu11=)
|
rs763702713
|
|
NM_000027.4(AGA):c.348G>A (p.Arg116=)
|
rs2111019818
|
|
NM_000027.4(AGA):c.394+13C>T
|
|
|
NM_000027.4(AGA):c.394+14T>C
|
|
|
NM_000027.4(AGA):c.394+18C>G
|
|
|
NM_000027.4(AGA):c.394+18C>T
|
|
|
NM_000027.4(AGA):c.394+20_394+21del
|
|
|
NM_000027.4(AGA):c.394+7_394+10del
|
rs761207366
|
|
NM_000027.4(AGA):c.394+9T>C
|
|
|
NM_000027.4(AGA):c.395-11C>G
|
|
|
NM_000027.4(AGA):c.395-14T>A
|
|
|
NM_000027.4(AGA):c.395-4C>G
|
|
|
NM_000027.4(AGA):c.395-5T>C
|
|
|
NM_000027.4(AGA):c.395-6C>A
|
|
|
NM_000027.4(AGA):c.395-7T>C
|
rs2111018312
|
|
NM_000027.4(AGA):c.395-9A>T
|
|
|
NM_000027.4(AGA):c.402A>C (p.Thr134=)
|
|
|
NM_000027.4(AGA):c.411A>G (p.Gln137=)
|
|
|
NM_000027.4(AGA):c.420G>T (p.Gly140=)
|
rs1579044062
|
|
NM_000027.4(AGA):c.426C>T (p.Ile142=)
|
|
|
NM_000027.4(AGA):c.432A>G (p.Glu144=)
|
rs2111018169
|
|
NM_000027.4(AGA):c.435C>T (p.Asp145=)
|
rs199682344
|
|
NM_000027.4(AGA):c.43C>T (p.Leu15=)
|
rs149921310
|
|
NM_000027.4(AGA):c.453T>C (p.Ser151=)
|
|
|
NM_000027.4(AGA):c.45G>T (p.Leu15=)
|
|
|
NM_000027.4(AGA):c.471T>C (p.Asp157=)
|
|
|
NM_000027.4(AGA):c.489C>T (p.Cys163=)
|
|
|
NM_000027.4(AGA):c.48C>A (p.Leu16=)
|
rs749548544
|
|
NM_000027.4(AGA):c.48C>T (p.Leu16=)
|
rs749548544
|
|
NM_000027.4(AGA):c.501T>C (p.Tyr167=)
|
|
|
NM_000027.4(AGA):c.507+10C>T
|
rs1190000409
|
|
NM_000027.4(AGA):c.507+11A>T
|
|
|
NM_000027.4(AGA):c.507+20A>T
|
|
|
NM_000027.4(AGA):c.507+7A>G
|
rs2111017976
|
|
NM_000027.4(AGA):c.507+9A>T
|
|
|
NM_000027.4(AGA):c.508-14A>C
|
|
|
NM_000027.4(AGA):c.508-16T>A
|
|
|
NM_000027.4(AGA):c.508-16T>G
|
|
|
NM_000027.4(AGA):c.508-18C>G
|
rs762450535
|
|
NM_000027.4(AGA):c.508-18C>T
|
|
|
NM_000027.4(AGA):c.508-7T>C
|
|
|
NM_000027.4(AGA):c.510T>C (p.Asn170=)
|
rs1736864324
|
|
NM_000027.4(AGA):c.528A>G (p.Ser176=)
|
|
|
NM_000027.4(AGA):c.534C>T (p.Tyr178=)
|
|
|
NM_000027.4(AGA):c.537C>T (p.Cys179=)
|
rs748171793
|
|
NM_000027.4(AGA):c.540A>C (p.Gly180=)
|
|
|
NM_000027.4(AGA):c.543C>A (p.Pro181=)
|
|
|
NM_000027.4(AGA):c.549A>G (p.Lys183=)
|
rs2111015751
|
|
NM_000027.4(AGA):c.552A>C (p.Pro184=)
|
|
|
NM_000027.4(AGA):c.552A>G (p.Pro184=)
|
|
|
NM_000027.4(AGA):c.570G>A (p.Gln190=)
|
rs111633694
|
|
NM_000027.4(AGA):c.57C>G (p.Ala19=)
|
|
|
NM_000027.4(AGA):c.57C>T (p.Ala19=)
|
rs1737062444
|
|
NM_000027.4(AGA):c.582C>A (p.Ile194=)
|
|
|
NM_000027.4(AGA):c.585T>C (p.His195=)
|
rs1736860088
|
|
NM_000027.4(AGA):c.58C>T (p.Leu20=)
|
rs758423275
|
|
NM_000027.4(AGA):c.622+9_622+15dup
|
|
|
NM_000027.4(AGA):c.623-17T>C
|
|
|
NM_000027.4(AGA):c.623-18T>G
|
rs2111013629
|
|
NM_000027.4(AGA):c.623-4C>G
|
|
|
NM_000027.4(AGA):c.623-9A>C
|
rs1388029418
|
|
NM_000027.4(AGA):c.624C>T (p.Gly208=)
|
|
|
NM_000027.4(AGA):c.63G>A (p.Val21=)
|
rs1737061654
|
|
NM_000027.4(AGA):c.66C>T (p.Arg22=)
|
|
|
NM_000027.4(AGA):c.687C>T (p.Phe229=)
|
|
|
NM_000027.4(AGA):c.698+11C>A
|
|
|
NM_000027.4(AGA):c.698+13A>G
|
|
|
NM_000027.4(AGA):c.698+14A>G
|
|
|
NM_000027.4(AGA):c.698+19A>C
|
|
|
NM_000027.4(AGA):c.699-11C>A
|
|
|
NM_000027.4(AGA):c.699-11C>T
|
|
|
NM_000027.4(AGA):c.699-12A>G
|
|
|
NM_000027.4(AGA):c.699-17T>C
|
|
|
NM_000027.4(AGA):c.699-9C>G
|
|
|
NM_000027.4(AGA):c.699-9C>T
|
|
|
NM_000027.4(AGA):c.708A>G (p.Gly236=)
|
rs2111009301
|
|
NM_000027.4(AGA):c.711C>T (p.Asp237=)
|
|
|
NM_000027.4(AGA):c.723T>G (p.Pro241=)
|
|
|
NM_000027.4(AGA):c.72C>T (p.Ser24=)
|
|
|
NM_000027.4(AGA):c.741T>C (p.Ala247=)
|
rs2111009204
|
|
NM_000027.4(AGA):c.750T>C (p.Thr250=)
|
rs2111009153
|
|
NM_000027.4(AGA):c.756G>A (p.Gly252=)
|
rs2111009133
|
|
NM_000027.4(AGA):c.756G>T (p.Gly252=)
|
|
|
NM_000027.4(AGA):c.771T>G (p.Thr257=)
|
rs1736734050
|
|
NM_000027.4(AGA):c.774G>C (p.Gly258=)
|
|
|
NM_000027.4(AGA):c.780T>C (p.Gly260=)
|
rs1579040275
|
|
NM_000027.4(AGA):c.787T>C (p.Leu263=)
|
|
|
NM_000027.4(AGA):c.789G>A (p.Leu263=)
|
rs2111008977
|
|
NM_000027.4(AGA):c.795C>T (p.Arg265=)
|
rs2111008931
|
|
NM_000027.4(AGA):c.79C>T (p.Leu27=)
|
|
|
NM_000027.4(AGA):c.801G>T (p.Leu267=)
|
rs1736730616
|
|
NM_000027.4(AGA):c.806+11T>G
|
|
|
NM_000027.4(AGA):c.806+12T>A
|
|
|
NM_000027.4(AGA):c.806+13dup
|
|
|
NM_000027.4(AGA):c.806+14G>C
|
|
|
NM_000027.4(AGA):c.806+19T>C
|
|
|
NM_000027.4(AGA):c.806+20G>A
|
|
|
NM_000027.4(AGA):c.806+7C>A
|
|
|
NM_000027.4(AGA):c.807-11G>C
|
|
|
NM_000027.4(AGA):c.807-17A>C
|
|
|
NM_000027.4(AGA):c.807-8T>A
|
|
|
NM_000027.4(AGA):c.810C>T (p.Tyr270=)
|
|
|
NM_000027.4(AGA):c.816T>C (p.Ala272=)
|
|
|
NM_000027.4(AGA):c.81G>T (p.Leu27=)
|
|
|
NM_000027.4(AGA):c.822A>G (p.Glu274=)
|
rs2111007039
|
|
NM_000027.4(AGA):c.84C>T (p.Pro28=)
|
rs182442304
|
|
NM_000027.4(AGA):c.852A>T (p.Ile284=)
|
rs540397394
|
|
NM_000027.4(AGA):c.867G>C (p.Val289=)
|
|
|
NM_000027.4(AGA):c.870T>C (p.Ile290=)
|
|
|
NM_000027.4(AGA):c.879C>T (p.Ile293=)
|
|
|
NM_000027.4(AGA):c.897A>G (p.Glu299=)
|
rs2111006864
|
|
NM_000027.4(AGA):c.906G>A (p.Gly302=)
|
rs2111006840
|
|
NM_000027.4(AGA):c.90C>G (p.Val30=)
|
|
|
NM_000027.4(AGA):c.936T>C (p.Ser312=)
|
|
|
NM_000027.4(AGA):c.940+13T>C
|
|
|
NM_000027.4(AGA):c.940+20T>C
|
|
|
NM_000027.4(AGA):c.940+8G>A
|
rs2111006715
|
|
NM_000027.4(AGA):c.940+8G>T
|
rs2111006715
|
|
NM_000027.4(AGA):c.940+9T>C
|
rs2111006710
|
|
NM_000027.4(AGA):c.941-17C>T
|
|
|
NM_000027.4(AGA):c.941-20T>C
|
|
|
NM_000027.4(AGA):c.941-7G>T
|
rs748346003
|
|
NM_000027.4(AGA):c.948T>C (p.Ala316=)
|
|
|
NM_000027.4(AGA):c.960T>G (p.Leu320=)
|
|
|
NM_000027.4(AGA):c.966A>G (p.Thr322=)
|
rs753625719
|
|
NM_000027.4(AGA):c.978T>C (p.Phe326=)
|
rs373878347
|
|
NM_000027.4(AGA):c.999C>G (p.Ser333=)
|
rs1479579564
|
|
NM_000027.4(AGA):c.99T>C (p.Thr33=)
|
rs2111028048
|
|
NM_000035.4(ALDOB):c.1000-12T>C
|
|
|
NM_000035.4(ALDOB):c.1000-13A>G
|
|
|
NM_000035.4(ALDOB):c.1000-14T>C
|
|
|
NM_000035.4(ALDOB):c.1000-17T>C
|
|
|
NM_000035.4(ALDOB):c.1000-20C>G
|
|
|
NM_000035.4(ALDOB):c.1000-6T>C
|
|
|
NM_000035.4(ALDOB):c.1008C>T (p.Cys336=)
|
|
|
NM_000035.4(ALDOB):c.102T>C (p.Asp34=)
|
|
|
NM_000035.4(ALDOB):c.1038G>A (p.Thr346=)
|
|
|
NM_000035.4(ALDOB):c.1038G>T (p.Thr346=)
|
|
|
NM_000035.4(ALDOB):c.1044T>C (p.Ser348=)
|
rs2118333009
|
|
NM_000035.4(ALDOB):c.1047T>C (p.Ser349=)
|
|
|
NM_000035.4(ALDOB):c.1059C>T (p.Ser353=)
|
|
|
NM_000035.4(ALDOB):c.1062C>T (p.Thr354=)
|
|
|
NM_000035.4(ALDOB):c.1071C>A (p.Leu357=)
|
|
|
NM_000035.4(ALDOB):c.1089C>G (p.Thr363=)
|
|
|
NM_000035.4(ALDOB):c.112+10A>G
|
rs2118366036
|
|
NM_000035.4(ALDOB):c.112+12A>G
|
|
|
NM_000035.4(ALDOB):c.112+17G>A
|
|
|
NM_000035.4(ALDOB):c.112+17G>T
|
|
|
NM_000035.4(ALDOB):c.112+20T>A
|
|
|
NM_000035.4(ALDOB):c.112+7G>A
|
rs1831206891
|
|
NM_000035.4(ALDOB):c.112+9A>G
|
|
|
NM_000035.4(ALDOB):c.113-10C>T
|
|
|
NM_000035.4(ALDOB):c.113-13C>T
|
|
|
NM_000035.4(ALDOB):c.113-17T>C
|
|
|
NM_000035.4(ALDOB):c.113-4A>G
|
|
|
NM_000035.4(ALDOB):c.113-7A>G
|
|
|
NM_000035.4(ALDOB):c.113-8C>A
|
rs2118362981
|
|
NM_000035.4(ALDOB):c.114T>A (p.Gly38=)
|
|
|
NM_000035.4(ALDOB):c.114T>C (p.Gly38=)
|
|
|
NM_000035.4(ALDOB):c.129C>T (p.Arg43=)
|
|
|
NM_000035.4(ALDOB):c.162G>A (p.Glu54=)
|
|
|
NM_000035.4(ALDOB):c.165C>T (p.Asn55=)
|
|
|
NM_000035.4(ALDOB):c.168C>T (p.Arg56=)
|
|
|
NM_000035.4(ALDOB):c.171G>A (p.Arg57=)
|
rs1297759351
|
|
NM_000035.4(ALDOB):c.171G>C (p.Arg57=)
|
|
|
NM_000035.4(ALDOB):c.178C>A (p.Arg60=)
|
rs118204429
|
|
NM_000035.4(ALDOB):c.186C>T (p.Ile62=)
|
rs1588172329
|
|
NM_000035.4(ALDOB):c.18A>T (p.Pro6=)
|
rs1344537476
|
|
NM_000035.4(ALDOB):c.204T>C (p.Ser68=)
|
rs1831191276
|
|
NM_000035.4(ALDOB):c.225G>A (p.Gly75=)
|
|
|
NM_000035.4(ALDOB):c.231G>A (p.Val77=)
|
|
|
NM_000035.4(ALDOB):c.231G>T (p.Val77=)
|
rs2118362315
|
|
NM_000035.4(ALDOB):c.249C>T (p.Thr83=)
|
rs1831190387
|
|
NM_000035.4(ALDOB):c.252C>G (p.Leu84=)
|
rs1831190272
|
|
NM_000035.4(ALDOB):c.252C>T (p.Leu84=)
|
|
|
NM_000035.4(ALDOB):c.264C>A (p.Asp88Glu)
|
rs200585150
|
|
NM_000035.4(ALDOB):c.264C>T (p.Asp88=)
|
rs200585150
|
|
NM_000035.4(ALDOB):c.277C>T (p.Leu93=)
|
rs2118362136
|
|
NM_000035.4(ALDOB):c.279G>C (p.Leu93=)
|
|
|
NM_000035.4(ALDOB):c.27C>G (p.Thr9=)
|
|
|
NM_000035.4(ALDOB):c.282C>T (p.Phe94=)
|
rs549682194
|
|
NM_000035.4(ALDOB):c.294C>G (p.Leu98=)
|
rs2118362024
|
|
NM_000035.4(ALDOB):c.294C>T (p.Leu98=)
|
|
|
NM_000035.4(ALDOB):c.312G>T (p.Val104=)
|
rs1831188786
|
|
NM_000035.4(ALDOB):c.315G>A (p.Val105=)
|
rs561489667
|
|
NM_000035.4(ALDOB):c.324+16C>T
|
|
|
NM_000035.4(ALDOB):c.324+18C>G
|
|
|
NM_000035.4(ALDOB):c.324+20C>G
|
|
|
NM_000035.4(ALDOB):c.324+7A>C
|
rs1452396378
|
|
NM_000035.4(ALDOB):c.324+9C>G
|
|
|
NM_000035.4(ALDOB):c.324+9C>T
|
rs761258365
|
|
NM_000035.4(ALDOB):c.325-15T>C
|
|
|
NM_000035.4(ALDOB):c.325-9T>C
|
|
|
NM_000035.4(ALDOB):c.336A>C (p.Gly112=)
|
rs1248064943
|
|
NM_000035.4(ALDOB):c.33G>A (p.Glu11=)
|
rs544090689
|
|
NM_000035.4(ALDOB):c.351A>G (p.Ala117=)
|
rs2118358644
|
|
NM_000035.4(ALDOB):c.369C>A (p.Thr123=)
|
rs775336756
|
|
NM_000035.4(ALDOB):c.372C>G (p.Thr124=)
|
|
|
NM_000035.4(ALDOB):c.379+12G>T
|
|
|
NM_000035.4(ALDOB):c.379+14C>G
|
|
|
NM_000035.4(ALDOB):c.379+18T>C
|
|
|
NM_000035.4(ALDOB):c.379+9A>T
|
rs778567515
|
|
NM_000035.4(ALDOB):c.380-12T>C
|
|
|
NM_000035.4(ALDOB):c.380-17T>C
|
|
|
NM_000035.4(ALDOB):c.380-19T>C
|
|
|
NM_000035.4(ALDOB):c.380-4G>T
|
rs747876844
|
|
NM_000035.4(ALDOB):c.380-9G>T
|
|
|
NM_000035.4(ALDOB):c.402C>T (p.Arg134=)
|
|
|
NM_000035.4(ALDOB):c.423T>C (p.Asp141=)
|
rs2118355518
|
|
NM_000035.4(ALDOB):c.426T>C (p.Gly142=)
|
rs774491597
|
|
NM_000035.4(ALDOB):c.435T>C (p.Phe145=)
|
rs2118355452
|
|
NM_000035.4(ALDOB):c.438G>C (p.Gly146=)
|
|
|
NM_000035.4(ALDOB):c.441G>A (p.Lys147=)
|
rs770794608
|
|
NM_000035.4(ALDOB):c.450T>A (p.Ala150=)
|
|
|
NM_000035.4(ALDOB):c.462T>C (p.Ile154=)
|
rs2118355269
|
|
NM_000035.4(ALDOB):c.465C>A (p.Ala155=)
|
rs569981883
|
|
NM_000035.4(ALDOB):c.474T>C (p.Cys158=)
|
rs1179941004
|
|
NM_000035.4(ALDOB):c.477A>G (p.Pro159=)
|
|
|
NM_000035.4(ALDOB):c.480C>T (p.Ser160=)
|
rs2118355075
|
|
NM_000035.4(ALDOB):c.486C>G (p.Leu162=)
|
rs773334784
|
|
NM_000035.4(ALDOB):c.486C>T (p.Leu162=)
|
rs773334784
|
|
NM_000035.4(ALDOB):c.510C>T (p.Ala170=)
|
|
|
NM_000035.4(ALDOB):c.511C>T (p.Leu171=)
|
rs2118354804
|
|
NM_000035.4(ALDOB):c.51A>G (p.Ser17=)
|
rs2118366331
|
|
NM_000035.4(ALDOB):c.531C>T (p.Ile177=)
|
rs760339672
|
|
NM_000035.4(ALDOB):c.540+11T>C
|
|
|
NM_000035.4(ALDOB):c.540+15C>T
|
|
|
NM_000035.4(ALDOB):c.540+16C>T
|
|
|
NM_000035.4(ALDOB):c.540+19G>A
|
|
|
NM_000035.4(ALDOB):c.541-5T>C
|
rs533131687
|
|
NM_000035.4(ALDOB):c.546A>G (p.Gly182=)
|
|
|
NM_000035.4(ALDOB):c.547C>T (p.Leu183=)
|
rs1831133410
|
|
NM_000035.4(ALDOB):c.549G>T (p.Leu183=)
|
rs1564077875
|
|
NM_000035.4(ALDOB):c.567A>G (p.Pro189=)
|
rs2118350882
|
|
NM_000035.4(ALDOB):c.591T>C (p.His197=)
|
|
|
NM_000035.4(ALDOB):c.594C>T (p.Asp198=)
|
|
|
NM_000035.4(ALDOB):c.595C>T (p.Leu199=)
|
rs1831132321
|
|
NM_000035.4(ALDOB):c.603C>T (p.His201=)
|
|
|
NM_000035.4(ALDOB):c.606C>T (p.Cys202=)
|
|
|
NM_000035.4(ALDOB):c.60C>T (p.Ala20=)
|
|
|
NM_000035.4(ALDOB):c.621G>A (p.Glu207=)
|
rs765681180
|
|
NM_000035.4(ALDOB):c.624+19G>A
|
|
|
NM_000035.4(ALDOB):c.624+20G>C
|
|
|
NM_000035.4(ALDOB):c.624+9T>G
|
|
|
NM_000035.4(ALDOB):c.625-10T>C
|
rs2118347030
|
|
NM_000035.4(ALDOB):c.625-15C>T
|
|
|
NM_000035.4(ALDOB):c.625-20T>A
|
|
|
NM_000035.4(ALDOB):c.625-9G>T
|
rs1564077543
|
|
NM_000035.4(ALDOB):c.625-9_625-7dup
|
|
|
NM_000035.4(ALDOB):c.627C>G (p.Val209=)
|
|
|
NM_000035.4(ALDOB):c.627C>T (p.Val209=)
|
|
|
NM_000035.4(ALDOB):c.628C>T (p.Leu210=)
|
|
|
NM_000035.4(ALDOB):c.645G>A (p.Lys215=)
|
|
|
NM_000035.4(ALDOB):c.669C>T (p.Tyr223=)
|
|
|
NM_000035.4(ALDOB):c.675G>A (p.Glu225=)
|
|
|
NM_000035.4(ALDOB):c.687A>C (p.Leu229=)
|
|
|
NM_000035.4(ALDOB):c.687A>G (p.Leu229=)
|
|
|
NM_000035.4(ALDOB):c.6C>T (p.Ala2=)
|
|
|
NM_000035.4(ALDOB):c.705T>G (p.Thr235=)
|
|
|
NM_000035.4(ALDOB):c.717C>T (p.Ala239=)
|
rs772197524
|
|
NM_000035.4(ALDOB):c.723C>G (p.Thr241=)
|
|
|
NM_000035.4(ALDOB):c.72T>C (p.Val24=)
|
|
|
NM_000035.4(ALDOB):c.732T>C (p.Tyr244=)
|
|
|
NM_000035.4(ALDOB):c.735T>C (p.Thr245=)
|
|
|
NM_000035.4(ALDOB):c.738A>G (p.Pro246=)
|
rs781139407
|
|
NM_000035.4(ALDOB):c.741A>G (p.Glu247=)
|
|
|
NM_000035.4(ALDOB):c.756C>T (p.Ala252=)
|
|
|
NM_000035.4(ALDOB):c.759C>A (p.Thr253=)
|
rs146360505
|
|
NM_000035.4(ALDOB):c.771C>T (p.Leu257=)
|
|
|
NM_000035.4(ALDOB):c.774C>T (p.His258=)
|
|
|
NM_000035.4(ALDOB):c.786T>A (p.Pro262=)
|
|
|
NM_000035.4(ALDOB):c.78T>C (p.Asn26=)
|
|
|
NM_000035.4(ALDOB):c.799+16T>C
|
|
|
NM_000035.4(ALDOB):c.799+17T>C
|
|
|
NM_000035.4(ALDOB):c.799+19T>A
|
|
|
NM_000035.4(ALDOB):c.799+20C>G
|
|
|
NM_000035.4(ALDOB):c.799+7C>T
|
|
|
NM_000035.4(ALDOB):c.800-10C>G
|
rs375872252
|
|
NM_000035.4(ALDOB):c.800-10C>T
|
|
|
NM_000035.4(ALDOB):c.800-11T>C
|
|
|
NM_000035.4(ALDOB):c.800-12C>A
|
|
|
NM_000035.4(ALDOB):c.800-12C>T
|
|
|
NM_000035.4(ALDOB):c.800-13T>G
|
|
|
NM_000035.4(ALDOB):c.800-15C>T
|
|
|
NM_000035.4(ALDOB):c.800-5A>G
|
rs199971480
|
|
NM_000035.4(ALDOB):c.800-6T>C
|
rs763222245
|
|
NM_000035.4(ALDOB):c.800-7C>T
|
|
|
NM_000035.4(ALDOB):c.800-8C>T
|
rs2118343372
|
|
NM_000035.4(ALDOB):c.819T>C (p.Gly273=)
|
rs778370988
|
|
NM_000035.4(ALDOB):c.828T>C (p.Ser276=)
|
|
|
NM_000035.4(ALDOB):c.840C>T (p.Ala280=)
|
|
|
NM_000035.4(ALDOB):c.855T>C (p.Asn285=)
|
|
|
NM_000035.4(ALDOB):c.858T>G (p.Ala286=)
|
|
|
NM_000035.4(ALDOB):c.870C>T (p.Cys290=)
|
|
|
NM_000035.4(ALDOB):c.87G>A (p.Gly29=)
|
|
|
NM_000035.4(ALDOB):c.891A>G (p.Lys297=)
|
|
|
NM_000035.4(ALDOB):c.912G>A (p.Arg304=)
|
rs1588170091
|
|
NM_000035.4(ALDOB):c.912G>C (p.Arg304=)
|
rs1588170091
|
|
NM_000035.4(ALDOB):c.915C>G (p.Ala305=)
|
rs1400203483
|
|
NM_000035.4(ALDOB):c.921G>A (p.Gln307=)
|
|
|
NM_000035.4(ALDOB):c.927T>C (p.Ser309=)
|
|
|
NM_000035.4(ALDOB):c.931C>T (p.Leu311=)
|
|
|
NM_000035.4(ALDOB):c.933G>T (p.Leu311=)
|
|
|
NM_000035.4(ALDOB):c.948C>A (p.Gly316=)
|
rs2118342090
|
|
NM_000035.4(ALDOB):c.96T>C (p.Ala32=)
|
|
|
NM_000035.4(ALDOB):c.96T>G (p.Ala32=)
|
rs928855259
|
|
NM_000035.4(ALDOB):c.972C>G (p.Thr324=)
|
|
|
NM_000035.4(ALDOB):c.972C>T (p.Thr324=)
|
rs952816406
|
|
NM_000035.4(ALDOB):c.999+10T>A
|
|
|
NM_000035.4(ALDOB):c.999+10T>C
|
|
|
NM_000035.4(ALDOB):c.999+12C>A
|
|
|
NM_000035.4(ALDOB):c.999+14A>G
|
|
|
NM_000035.4(ALDOB):c.999+18C>T
|
|
|
NM_000035.4(ALDOB):c.99A>C (p.Ala33=)
|
rs1322360698
|
|
NM_000046.5(ARSB):c.1005C>T (p.Pro335=)
|
|
|
NM_000046.5(ARSB):c.1011G>A (p.Leu337=)
|
rs2112211547
|
|
NM_000046.5(ARSB):c.1026G>A (p.Val342=)
|
rs2112211473
|
|
NM_000046.5(ARSB):c.102G>A (p.Pro34=)
|
rs1466555919
|
|
NM_000046.5(ARSB):c.1047C>T (p.His349=)
|
|
|
NM_000046.5(ARSB):c.1065A>G (p.Pro355=)
|
rs1580000175
|
|
NM_000046.5(ARSB):c.1069C>G (p.Leu357Val)
|
rs1310322781
|
|
NM_000046.5(ARSB):c.1071C>A (p.Leu357=)
|
|
|
NM_000046.5(ARSB):c.1071C>T (p.Leu357=)
|
rs1216502750
|
|
NM_000046.5(ARSB):c.1074G>A (p.Val358=)
|
rs2112211034
|
|
NM_000046.5(ARSB):c.1089A>G (p.Gly363=)
|
|
|
NM_000046.5(ARSB):c.1095C>A (p.Thr365=)
|
rs2112210847
|
|
NM_000046.5(ARSB):c.111G>C (p.Ser37=)
|
rs2112583225
|
|
NM_000046.5(ARSB):c.1128G>A (p.Val376=)
|
|
|
NM_000046.5(ARSB):c.1142+10C>T
|
|
|
NM_000046.5(ARSB):c.1142+11C>T
|
|
|
NM_000046.5(ARSB):c.1142+12C>T
|
|
|
NM_000046.5(ARSB):c.1142+14G>A
|
|
|
NM_000046.5(ARSB):c.1142+7A>T
|
rs1308281232
|
|
NM_000046.5(ARSB):c.1143-16A>C
|
|
|
NM_000046.5(ARSB):c.1161C>A (p.Pro387=)
|
|
|
NM_000046.5(ARSB):c.1161C>T (p.Pro387=)
|
|
|
NM_000046.5(ARSB):c.1170G>A (p.Glu390=)
|
|
|
NM_000046.5(ARSB):c.1173G>C (p.Leu391=)
|
rs2111983867
|
|
NM_000046.5(ARSB):c.1174C>T (p.Leu392=)
|
rs2111983845
|
|
NM_000046.5(ARSB):c.1203C>T (p.Asp401=)
|
rs2112718154
|
|
NM_000046.5(ARSB):c.1206T>C (p.Ser402=)
|
|
|
NM_000046.5(ARSB):c.1209A>G (p.Ser403=)
|
|
|
NM_000046.5(ARSB):c.120G>T (p.Gly40=)
|
|
|
NM_000046.5(ARSB):c.1213+15A>G
|
|
|
NM_000046.5(ARSB):c.1213+18G>A
|
|
|
NM_000046.5(ARSB):c.1214-12A>G
|
|
|
NM_000046.5(ARSB):c.1214-12dup
|
|
|
NM_000046.5(ARSB):c.1214-14C>T
|
|
|
NM_000046.5(ARSB):c.1214-15A>T
|
rs1353542088
|
|
NM_000046.5(ARSB):c.1214-17A>C
|
|
|
NM_000046.5(ARSB):c.1214-4C>T
|
|
|
NM_000046.5(ARSB):c.1214-5C>A
|
rs1580962835
|
|
NM_000046.5(ARSB):c.1214-5C>G
|
rs1580962835
|
|
NM_000046.5(ARSB):c.1214-6T>G
|
|
|
NM_000046.5(ARSB):c.123C>A (p.Ala41=)
|
rs886038216
|
|
NM_000046.5(ARSB):c.1254T>C (p.Ser418=)
|
rs1362185630
|
|
NM_000046.5(ARSB):c.1272C>A (p.Ala424=)
|
rs2112619347
|
|
NM_000046.5(ARSB):c.1281A>G (p.Thr427=)
|
|
|
NM_000046.5(ARSB):c.1305T>C (p.His435=)
|
|
|
NM_000046.5(ARSB):c.1308A>C (p.Gly436=)
|
rs753899382
|
|
NM_000046.5(ARSB):c.1320C>T (p.Leu440=)
|
|
|
NM_000046.5(ARSB):c.1326G>T (p.Thr442=)
|
rs537543103
|
|
NM_000046.5(ARSB):c.132G>T (p.Pro44=)
|
rs749069139
|
|
NM_000046.5(ARSB):c.1336+12A>G
|
|
|
NM_000046.5(ARSB):c.1336+18G>A
|
|
|
NM_000046.5(ARSB):c.1336+8C>A
|
|
|
NM_000046.5(ARSB):c.1336+8C>T
|
|
|
NM_000046.5(ARSB):c.1337-14G>C
|
|
|
NM_000046.5(ARSB):c.1337-16T>C
|
|
|
NM_000046.5(ARSB):c.1337-19GTTTT[3]
|
rs780397796
|
|
NM_000046.5(ARSB):c.1337-19_1337-18del
|
|
|
NM_000046.5(ARSB):c.1337-7T>C
|
|
|
NM_000046.5(ARSB):c.1347C>T (p.Tyr449=)
|
rs759008131
|
|
NM_000046.5(ARSB):c.1353C>T (p.Phe451=)
|
rs2112617431
|
|
NM_000046.5(ARSB):c.1356T>C (p.Pro452=)
|
|
|
NM_000046.5(ARSB):c.135C>G (p.Pro45=)
|
rs2112582844
|
|
NM_000046.5(ARSB):c.1368A>G (p.Gln456=)
|
|
|
NM_000046.5(ARSB):c.1395A>G (p.Ser465=)
|
rs2112617369
|
|
NM_000046.5(ARSB):c.1404A>C (p.Pro468=)
|
rs1580961280
|
|
NM_000046.5(ARSB):c.141G>C (p.Leu47=)
|
|
|
NM_000046.5(ARSB):c.1422C>T (p.Leu474=)
|
|
|
NM_000046.5(ARSB):c.1428T>C (p.Asp476=)
|
|
|
NM_000046.5(ARSB):c.1434T>C (p.Asp478=)
|
rs2112617302
|
|
NM_000046.5(ARSB):c.147C>T (p.Phe49=)
|
|
|
NM_000046.5(ARSB):c.1482C>A (p.Ile494=)
|
|
|
NM_000046.5(ARSB):c.1488A>T (p.Thr496=)
|
|
|
NM_000046.5(ARSB):c.1504C>T (p.Leu502=)
|
|
|
NM_000046.5(ARSB):c.1506A>G (p.Leu502=)
|
|
|
NM_000046.5(ARSB):c.150G>A (p.Leu50=)
|
rs2112582698
|
|
NM_000046.5(ARSB):c.1530C>T (p.Val510=)
|
rs2112617107
|
|
NM_000046.5(ARSB):c.1545T>G (p.Pro515=)
|
|
|
NM_000046.5(ARSB):c.1548A>C (p.Ala516=)
|
rs1158401003
|
|
NM_000046.5(ARSB):c.1557C>T (p.Pro519=)
|
rs1748890674
|
|
NM_000046.5(ARSB):c.1560C>T (p.Arg520=)
|
rs750093168
|
|
NM_000046.5(ARSB):c.1575C>A (p.Ala525=)
|
rs2112617015
|
|
NM_000046.5(ARSB):c.1578T>C (p.Thr526=)
|
rs2112617006
|
|
NM_000046.5(ARSB):c.1581G>C (p.Gly527=)
|
|
|
NM_000046.5(ARSB):c.159C>T (p.Asp53=)
|
|
|
NM_000046.5(ARSB):c.15C>A (p.Gly5=)
|
|
|
NM_000046.5(ARSB):c.15C>G (p.Gly5=)
|
rs1313700683
|
|
NM_000046.5(ARSB):c.15C>T (p.Gly5=)
|
|
|
NM_000046.5(ARSB):c.180C>A (p.Val60=)
|
|
|
NM_000046.5(ARSB):c.180C>T (p.Val60=)
|
|
|
NM_000046.5(ARSB):c.189C>T (p.His63=)
|
|
|
NM_000046.5(ARSB):c.18G>A (p.Ala6=)
|
|
|
NM_000046.5(ARSB):c.18G>C (p.Ala6=)
|
rs1047766714
|
|
NM_000046.5(ARSB):c.195C>A (p.Ser65=)
|
|
|
NM_000046.5(ARSB):c.195C>T (p.Ser65=)
|
rs2112582289
|
|
NM_000046.5(ARSB):c.210G>A (p.Pro70=)
|
|
|
NM_000046.5(ARSB):c.21G>A (p.Ala7=)
|
rs1266041134
|
|
NM_000046.5(ARSB):c.21G>C (p.Ala7=)
|
|
|
NM_000046.5(ARSB):c.222G>A (p.Ala74=)
|
rs1160145148
|
|
NM_000046.5(ARSB):c.225G>A (p.Leu75=)
|
rs1362656468
|
|
NM_000046.5(ARSB):c.225G>T (p.Leu75=)
|
|
|
NM_000046.5(ARSB):c.228G>A (p.Ala76=)
|
|
|
NM_000046.5(ARSB):c.234C>G (p.Gly78=)
|
|
|
NM_000046.5(ARSB):c.244C>T (p.Leu82=)
|
|
|
NM_000046.5(ARSB):c.246G>T (p.Leu82=)
|
rs1035210606
|
|
NM_000046.5(ARSB):c.25T>C (p.Leu9=)
|
|
|
NM_000046.5(ARSB):c.267G>A (p.Pro89=)
|
rs573453966
|
|
NM_000046.5(ARSB):c.282G>A (p.Ser94=)
|
rs2112581145
|
|
NM_000046.5(ARSB):c.283C>A (p.Arg95=)
|
|
|
NM_000046.5(ARSB):c.285G>A (p.Arg95=)
|
rs763502806
|
|
NM_000046.5(ARSB):c.300T>C (p.Thr100=)
|
rs1753094740
|
|
NM_000046.5(ARSB):c.306C>G (p.Arg102=)
|
|
|
NM_000046.5(ARSB):c.309C>T (p.Tyr103=)
|
|
|
NM_000046.5(ARSB):c.30C>G (p.Pro10=)
|
|
|
NM_000046.5(ARSB):c.312+11C>T
|
|
|
NM_000046.5(ARSB):c.312+12C>T
|
|
|
NM_000046.5(ARSB):c.312+14C>A
|
rs1293997321
|
|
NM_000046.5(ARSB):c.312+14C>G
|
|
|
NM_000046.5(ARSB):c.312+14C>T
|
|
|
NM_000046.5(ARSB):c.312+14_312+18del
|
|
|
NM_000046.5(ARSB):c.312+14_312+22del
|
rs1425725676
|
|
NM_000046.5(ARSB):c.312+15C>G
|
|
|
NM_000046.5(ARSB):c.312+16G>A
|
|
|
NM_000046.5(ARSB):c.312+17C>G
|
|
|
NM_000046.5(ARSB):c.312+18C>T
|
|
|
NM_000046.5(ARSB):c.312+19_312+36del
|
rs762417834
|
|
NM_000046.5(ARSB):c.312+19_312+41del
|
|
|
NM_000046.5(ARSB):c.312+8G>A
|
rs774555967
|
|
NM_000046.5(ARSB):c.312+8_312+16dup
|
|
|
NM_000046.5(ARSB):c.312+9C>A
|
rs2112580691
|
|
NM_000046.5(ARSB):c.313-11A>G
|
|
|
NM_000046.5(ARSB):c.313-16T>C
|
|
|
NM_000046.5(ARSB):c.313-19T>G
|
|
|
NM_000046.5(ARSB):c.315C>T (p.Ile105=)
|
rs2112530668
|
|
NM_000046.5(ARSB):c.321A>G (p.Thr107=)
|
rs2112530622
|
|
NM_000046.5(ARSB):c.327A>G (p.Leu109=)
|
|
|
NM_000046.5(ARSB):c.336A>G (p.Gln112=)
|
|
|
NM_000046.5(ARSB):c.339A>C (p.Ile113=)
|
|
|
NM_000046.5(ARSB):c.33A>G (p.Arg11=)
|
|
|
NM_000046.5(ARSB):c.351T>C (p.Cys117=)
|
rs2112530435
|
|
NM_000046.5(ARSB):c.354G>A (p.Gln118=)
|
|
|
NM_000046.5(ARSB):c.357C>T (p.Pro119=)
|
|
|
NM_000046.5(ARSB):c.363T>C (p.Cys121=)
|
rs2112530329
|
|
NM_000046.5(ARSB):c.36C>A (p.Gly12=)
|
rs1580170993
|
|
NM_000046.5(ARSB):c.370C>T (p.Leu124=)
|
|
|
NM_000046.5(ARSB):c.387G>A (p.Leu129=)
|
rs1752337674
|
|
NM_000046.5(ARSB):c.387G>C (p.Leu129=)
|
|
|
NM_000046.5(ARSB):c.390C>G (p.Pro130=)
|
|
|
NM_000046.5(ARSB):c.399A>G (p.Leu133=)
|
rs778723643
|
|
NM_000046.5(ARSB):c.39C>T (p.Pro13=)
|
|
|
NM_000046.5(ARSB):c.417T>C (p.Thr139=)
|
|
|
NM_000046.5(ARSB):c.432A>G (p.Gly144=)
|
|
|
NM_000046.5(ARSB):c.474C>T (p.Thr158=)
|
rs1042478077
|
|
NM_000046.5(ARSB):c.477C>T (p.Arg159=)
|
rs966538858
|
|
NM_000046.5(ARSB):c.480A>G (p.Arg160=)
|
rs2112529443
|
|
NM_000046.5(ARSB):c.48G>A (p.Arg16=)
|
|
|
NM_000046.5(ARSB):c.48G>C (p.Arg16=)
|
|
|
NM_000046.5(ARSB):c.492C>T (p.Thr164=)
|
rs2112529378
|
|
NM_000046.5(ARSB):c.499+13C>G
|
|
|
NM_000046.5(ARSB):c.499+13C>T
|
|
|
NM_000046.5(ARSB):c.499+15C>T
|
|
|
NM_000046.5(ARSB):c.499+16A>G
|
|
|
NM_000046.5(ARSB):c.499+16_499+17del
|
|
|
NM_000046.5(ARSB):c.499+7G>A
|
rs1334103341
|
|
NM_000046.5(ARSB):c.500-10A>G
|
rs2112514597
|
|
NM_000046.5(ARSB):c.500-10A>T
|
|
|
NM_000046.5(ARSB):c.500-11C>T
|
|
|
NM_000046.5(ARSB):c.500-17G>A
|
rs372317070
|
|
NM_000046.5(ARSB):c.500-17G>T
|
|
|
NM_000046.5(ARSB):c.500-18C>T
|
|
|
NM_000046.5(ARSB):c.500-4G>A
|
rs2112514576
|
|
NM_000046.5(ARSB):c.500-4G>T
|
rs2112514576
|
|
NM_000046.5(ARSB):c.500-8T>A
|
|
|
NM_000046.5(ARSB):c.531C>G (p.Ser177=)
|
rs377234838
|
|
NM_000046.5(ARSB):c.531C>T (p.Ser177=)
|
rs377234838
|
|
NM_000046.5(ARSB):c.540C>T (p.Arg180=)
|
|
|
NM_000046.5(ARSB):c.546A>G (p.Thr182=)
|
|
|
NM_000046.5(ARSB):c.559C>T (p.Leu187=)
|
|
|
NM_000046.5(ARSB):c.582T>G (p.Leu194=)
|
|
|
NM_000046.5(ARSB):c.60C>T (p.Leu20=)
|
rs2112583734
|
|
NM_000046.5(ARSB):c.615A>G (p.Gly205=)
|
|
|
NM_000046.5(ARSB):c.63C>G (p.Pro21=)
|
rs1221636759
|
|
NM_000046.5(ARSB):c.63C>T (p.Pro21=)
|
|
|
NM_000046.5(ARSB):c.654G>A (p.Arg218=)
|
rs2112513773
|
|
NM_000046.5(ARSB):c.657T>C (p.Ala219=)
|
|
|
NM_000046.5(ARSB):c.666C>T (p.Leu222=)
|
rs1752122294
|
|
NM_000046.5(ARSB):c.678T>C (p.His226=)
|
rs1580135735
|
|
NM_000046.5(ARSB):c.690+15T>C
|
|
|
NM_000046.5(ARSB):c.690+16A>C
|
|
|
NM_000046.5(ARSB):c.690+16A>G
|
|
|
NM_000046.5(ARSB):c.690+9T>C
|
|
|
NM_000046.5(ARSB):c.691-12C>T
|
|
|
NM_000046.5(ARSB):c.691-20T>C
|
|
|
NM_000046.5(ARSB):c.691-4C>T
|
|
|
NM_000046.5(ARSB):c.691-6T>C
|
rs2112484612
|
|
NM_000046.5(ARSB):c.691-7T>C
|
|
|
NM_000046.5(ARSB):c.691-8C>T
|
|
|
NM_000046.5(ARSB):c.694C>T (p.Leu232=)
|
rs1264190516
|
|
NM_000046.5(ARSB):c.69C>T (p.Val23=)
|
rs765737800
|
|
NM_000046.5(ARSB):c.6T>A (p.Gly2=)
|
|
|
NM_000046.5(ARSB):c.723G>T (p.Val241=)
|
rs199858121
|
|
NM_000046.5(ARSB):c.744T>A (p.Pro248=)
|
|
|
NM_000046.5(ARSB):c.756G>A (p.Leu252=)
|
rs544156449
|
|
NM_000046.5(ARSB):c.762A>T (p.Pro254=)
|
rs2112484023
|
|
NM_000046.5(ARSB):c.777A>G (p.Gln259=)
|
|
|
NM_000046.5(ARSB):c.789G>A (p.Arg263=)
|
rs2112483929
|
|
NM_000046.5(ARSB):c.813C>T (p.Ser271=)
|
|
|
NM_000046.5(ARSB):c.822T>C (p.Asp274=)
|
|
|
NM_000046.5(ARSB):c.837T>C (p.Asn279=)
|
rs1751673041
|
|
NM_000046.5(ARSB):c.846A>G (p.Ala282=)
|
|
|
NM_000046.5(ARSB):c.85C>T (p.Leu29=)
|
|
|
NM_000046.5(ARSB):c.861T>C (p.Ser287=)
|
|
|
NM_000046.5(ARSB):c.898+10T>C
|
|
|
NM_000046.5(ARSB):c.898+14T>C
|
|
|
NM_000046.5(ARSB):c.898+9G>C
|
|
|
NM_000046.5(ARSB):c.899-10T>C
|
|
|
NM_000046.5(ARSB):c.899-16C>T
|
|
|
NM_000046.5(ARSB):c.899-17A>G
|
|
|
NM_000046.5(ARSB):c.899-4dup
|
|
|
NM_000046.5(ARSB):c.899-9G>A
|
|
|
NM_000046.5(ARSB):c.90G>A (p.Leu30=)
|
|
|
NM_000046.5(ARSB):c.921A>C (p.Ala307=)
|
rs2112212439
|
|
NM_000046.5(ARSB):c.924G>C (p.Gly308=)
|
|
|
NM_000046.5(ARSB):c.942T>C (p.Leu314=)
|
rs1748000092
|
|
NM_000046.5(ARSB):c.945A>G (p.Arg315=)
|
|
|
NM_000046.5(ARSB):c.94T>C (p.Leu32=)
|
rs2112583408
|
|
NM_000046.5(ARSB):c.951A>G (p.Arg317=)
|
rs1318270777
|
|
NM_000046.5(ARSB):c.954A>G (p.Lys318=)
|
rs2112212040
|
|
NM_000046.5(ARSB):c.963G>T (p.Leu321=)
|
|
|
NM_000046.5(ARSB):c.979C>A (p.Arg327=)
|
rs773492223
|
|
NM_000046.5(ARSB):c.999A>G (p.Ala333=)
|
rs1580000383
|
|
NM_000046.5(ARSB):c.99G>A (p.Ala33=)
|
|
|
NM_000046.5(ARSB):c.9G>A (p.Pro3=)
|
|
|
NM_000046.5(ARSB):c.9G>C (p.Pro3=)
|
rs1289000597
|
|
NM_000108.5(DLD):c.1005T>C (p.Gly335=)
|
rs763878786
|
|
NM_000108.5(DLD):c.1011T>C (p.Ile337=)
|
rs761507009
|
|
NM_000108.5(DLD):c.1014A>G (p.Pro338=)
|
rs764979410
|
|
NM_000108.5(DLD):c.1023C>A (p.Thr341=)
|
rs2116270465
|
|
NM_000108.5(DLD):c.1023C>T (p.Thr341=)
|
rs2116270465
|
|
NM_000108.5(DLD):c.1035T>C (p.Thr345=)
|
|
|
NM_000108.5(DLD):c.1044A>C (p.Pro348=)
|
rs1241426016
|
|
NM_000108.5(DLD):c.1046+16G>A
|
|
|
NM_000108.5(DLD):c.1046+16G>T
|
|
|
NM_000108.5(DLD):c.1047-13A>T
|
|
|
NM_000108.5(DLD):c.1047-13_1047-5del
|
rs1462836154
|
|
NM_000108.5(DLD):c.1047-19C>A
|
|
|
NM_000108.5(DLD):c.1047-4G>T
|
rs2116271429
|
|
NM_000108.5(DLD):c.1047-7G>A
|
|
|
NM_000108.5(DLD):c.1047-7G>T
|
|
|
NM_000108.5(DLD):c.1047-7_1047-4del
|
rs2116271424
|
|
NM_000108.5(DLD):c.1053T>C (p.Tyr351=)
|
rs2116271455
|
|
NM_000108.5(DLD):c.1074T>C (p.Ala358=)
|
|
|
NM_000108.5(DLD):c.108A>G (p.Ala36=)
|
|
|
NM_000108.5(DLD):c.108A>T (p.Ala36=)
|
|
|
NM_000108.5(DLD):c.1095A>G (p.Lys365=)
|
|
|
NM_000108.5(DLD):c.1113T>C (p.Ile371=)
|
rs773097241
|
|
NM_000108.5(DLD):c.1116C>A (p.Ile372=)
|
rs2116271616
|
|
NM_000108.5(DLD):c.1158C>T (p.Tyr386=)
|
|
|
NM_000108.5(DLD):c.1173A>G (p.Ser391=)
|
|
|
NM_000108.5(DLD):c.1179T>C (p.Ile393=)
|
|
|
NM_000108.5(DLD):c.118+10T>G
|
rs1436028319
|
|
NM_000108.5(DLD):c.118+11A>G
|
|
|
NM_000108.5(DLD):c.118+13G>A
|
|
|
NM_000108.5(DLD):c.118+18A>G
|
|
|
NM_000108.5(DLD):c.118+19C>G
|
|
|
NM_000108.5(DLD):c.118+19C>T
|
|
|
NM_000108.5(DLD):c.119-16T>C
|
|
|
NM_000108.5(DLD):c.119-18A>T
|
|
|
NM_000108.5(DLD):c.119-7A>G
|
rs2116206903
|
|
NM_000108.5(DLD):c.119-9T>C
|
|
|
NM_000108.5(DLD):c.1191T>C (p.Pro397=)
|
rs2116272074
|
|
NM_000108.5(DLD):c.1215A>G (p.Ser405=)
|
|
|
NM_000108.5(DLD):c.1221G>A (p.Glu407=)
|
|
|
NM_000108.5(DLD):c.1233A>G (p.Glu411=)
|
|
|
NM_000108.5(DLD):c.1236+13A>T
|
|
|
NM_000108.5(DLD):c.1236+16G>A
|
rs2116272359
|
|
NM_000108.5(DLD):c.1236+16G>T
|
|
|
NM_000108.5(DLD):c.1236+19_1236+20insAAAA
|
|
|
NM_000108.5(DLD):c.1236+7C>A
|
|
|
NM_000108.5(DLD):c.1237-13C>G
|
|
|
NM_000108.5(DLD):c.1237-17T>C
|
|
|
NM_000108.5(DLD):c.1237-5C>T
|
|
|
NM_000108.5(DLD):c.1237-7G>A
|
rs765771763
|
|
NM_000108.5(DLD):c.1237-7G>C
|
|
|
NM_000108.5(DLD):c.1245G>A (p.Glu415=)
|
|
|
NM_000108.5(DLD):c.1248C>T (p.Tyr416=)
|
rs773685921
|
|
NM_000108.5(DLD):c.1254T>A (p.Val418=)
|
rs763401114
|
|
NM_000108.5(DLD):c.1254T>C (p.Val418=)
|
rs763401114
|
|
NM_000108.5(DLD):c.1272T>C (p.Ala424=)
|
rs1005430908
|
|
NM_000108.5(DLD):c.1296T>C (p.Asn432=)
|
rs2116274251
|
|
NM_000108.5(DLD):c.1302C>T (p.Asp434=)
|
|
|
NM_000108.5(DLD):c.1320G>A (p.Lys440=)
|
rs2116274362
|
|
NM_000108.5(DLD):c.1323C>T (p.Ile441=)
|
|
|
NM_000108.5(DLD):c.1338G>A (p.Ser446=)
|
rs1323254312
|
|
NM_000108.5(DLD):c.1344C>T (p.Asp448=)
|
|
|
NM_000108.5(DLD):c.1353G>A (p.Leu451=)
|
|
|
NM_000108.5(DLD):c.1359A>G (p.Ala453=)
|
rs1291150689
|
|
NM_000108.5(DLD):c.1374+10G>A
|
rs2116274678
|
|
NM_000108.5(DLD):c.1374+12A>G
|
|
|
NM_000108.5(DLD):c.1374+16C>T
|
|
|
NM_000108.5(DLD):c.1374+17C>T
|
|
|
NM_000108.5(DLD):c.1374+9T>A
|
rs1584473925
|
|
NM_000108.5(DLD):c.1374+9T>G
|
|
|
NM_000108.5(DLD):c.1375-17G>T
|
|
|
NM_000108.5(DLD):c.1377T>A (p.Gly459=)
|
rs2032340474
|
|
NM_000108.5(DLD):c.1416A>G (p.Glu472=)
|
|
|
NM_000108.5(DLD):c.1422A>G (p.Gly474=)
|
|
|
NM_000108.5(DLD):c.1428C>T (p.Ser476=)
|
rs2032344125
|
|
NM_000108.5(DLD):c.1437T>C (p.Asp479=)
|
|
|
NM_000108.5(DLD):c.144T>C (p.Gly48=)
|
rs2116207135
|
|
NM_000108.5(DLD):c.1464+16A>G
|
|
|
NM_000108.5(DLD):c.1464+17T>C
|
rs2116278286
|
|
NM_000108.5(DLD):c.1464+19T>C
|
|
|
NM_000108.5(DLD):c.1465-12C>T
|
|
|
NM_000108.5(DLD):c.1465-16A>T
|
|
|
NM_000108.5(DLD):c.1465-7C>G
|
rs886061908
|
|
NM_000108.5(DLD):c.1465-9C>T
|
rs2032348186
|
|
NM_000108.5(DLD):c.1482T>C (p.Phe494=)
|
rs2032348683
|
|
NM_000108.5(DLD):c.1506A>G (p.Ser502=)
|
rs941059131
|
|
NM_000108.5(DLD):c.1515A>G (p.Lys505=)
|
|
|
NM_000108.5(DLD):c.1527T>C (p.Phe509=)
|
|
|
NM_000108.5(DLD):c.156A>G (p.Gly52=)
|
|
|
NM_000108.5(DLD):c.159A>G (p.Gly53=)
|
|
|
NM_000108.5(DLD):c.168T>C (p.Ala56=)
|
rs2116207243
|
|
NM_000108.5(DLD):c.180T>G (p.Ala60=)
|
rs2116207327
|
|
NM_000108.5(DLD):c.183C>G (p.Ala61=)
|
rs2031882834
|
|
NM_000108.5(DLD):c.183C>T (p.Ala61=)
|
rs2031882834
|
|
NM_000108.5(DLD):c.189A>G (p.Leu63=)
|
|
|
NM_000108.5(DLD):c.18T>C (p.Arg6=)
|
rs2116150112
|
|
NM_000108.5(DLD):c.192C>A (p.Gly64=)
|
rs1222766486
|
|
NM_000108.5(DLD):c.198+10G>C
|
rs777566045
|
|
NM_000108.5(DLD):c.199-10T>C
|
rs2116209763
|
|
NM_000108.5(DLD):c.199-4G>A
|
|
|
NM_000108.5(DLD):c.199-6T>C
|
rs1584462430
|
|
NM_000108.5(DLD):c.204C>T (p.Val68=)
|
rs553951105
|
|
NM_000108.5(DLD):c.228T>C (p.Leu76=)
|
|
|
NM_000108.5(DLD):c.231T>C (p.Gly77=)
|
|
|
NM_000108.5(DLD):c.237A>G (p.Thr79=)
|
|
|
NM_000108.5(DLD):c.267+12T>C
|
|
|
NM_000108.5(DLD):c.267+8T>A
|
|
|
NM_000108.5(DLD):c.267+9G>C
|
rs188936529
|
|
NM_000108.5(DLD):c.268-15T>C
|
|
|
NM_000108.5(DLD):c.268-20A>T
|
|
|
NM_000108.5(DLD):c.268-6C>T
|
|
|
NM_000108.5(DLD):c.273A>G (p.Leu91=)
|
|
|
NM_000108.5(DLD):c.27C>T (p.Cys9=)
|
|
|
NM_000108.5(DLD):c.285T>C (p.Ser95=)
|
rs761564212
|
|
NM_000108.5(DLD):c.297T>C (p.His99=)
|
|
|
NM_000108.5(DLD):c.306T>C (p.His102=)
|
|
|
NM_000108.5(DLD):c.30C>A (p.Ser10=)
|
rs779166996
|
|
NM_000108.5(DLD):c.30C>T (p.Ser10=)
|
rs779166996
|
|
NM_000108.5(DLD):c.337+10C>T
|
rs752671238
|
|
NM_000108.5(DLD):c.337+16A>G
|
|
|
NM_000108.5(DLD):c.337+17T>C
|
|
|
NM_000108.5(DLD):c.337+19C>T
|
rs751168608
|
|
NM_000108.5(DLD):c.338-18del
|
|
|
NM_000108.5(DLD):c.338-4A>C
|
rs2116219347
|
|
NM_000108.5(DLD):c.351C>A (p.Arg117=)
|
rs374988228
|
|
NM_000108.5(DLD):c.351C>G (p.Arg117=)
|
rs374988228
|
|
NM_000108.5(DLD):c.351C>T (p.Arg117=)
|
rs374988228
|
|
NM_000108.5(DLD):c.39+10G>A
|
|
|
NM_000108.5(DLD):c.39+10G>C
|
|
|
NM_000108.5(DLD):c.39+12G>A
|
|
|
NM_000108.5(DLD):c.39+14A>G
|
|
|
NM_000108.5(DLD):c.39+14A>T
|
|
|
NM_000108.5(DLD):c.39+20G>C
|
|
|
NM_000108.5(DLD):c.39+7G>A
|
|
|
NM_000108.5(DLD):c.40-10C>G
|
rs2116162378
|
|
NM_000108.5(DLD):c.40-17A>G
|
|
|
NM_000108.5(DLD):c.40-18G>A
|
|
|
NM_000108.5(DLD):c.40-20G>A
|
rs2031631950
|
|
NM_000108.5(DLD):c.40-4del
|
rs2116162407
|
|
NM_000108.5(DLD):c.421T>C (p.Leu141=)
|
rs2116219899
|
|
NM_000108.5(DLD):c.438+12A>C
|
|
|
NM_000108.5(DLD):c.438+15T>C
|
|
|
NM_000108.5(DLD):c.438+15T>G
|
|
|
NM_000108.5(DLD):c.438+16T>G
|
|
|
NM_000108.5(DLD):c.438+7G>A
|
|
|
NM_000108.5(DLD):c.439-4A>G
|
rs1270309743
|
|
NM_000108.5(DLD):c.439-6G>C
|
rs369208046
|
|
NM_000108.5(DLD):c.439-7_439-6inv
|
|
|
NM_000108.5(DLD):c.444T>G (p.Val148=)
|
rs2116221274
|
|
NM_000108.5(DLD):c.450C>A (p.Val150=)
|
rs2116221334
|
|
NM_000108.5(DLD):c.453T>C (p.Asn151=)
|
|
|
NM_000108.5(DLD):c.462A>G (p.Gly154=)
|
rs2116221430
|
|
NM_000108.5(DLD):c.474C>A (p.Gly158=)
|
rs2116221541
|
|
NM_000108.5(DLD):c.474C>T (p.Gly158=)
|
|
|
NM_000108.5(DLD):c.486C>A (p.Val162=)
|
|
|
NM_000108.5(DLD):c.489T>G (p.Thr163=)
|
|
|
NM_000108.5(DLD):c.48T>C (p.His16=)
|
rs2031632982
|
|
NM_000108.5(DLD):c.507C>A (p.Gly169=)
|
rs144351432
|
|
NM_000108.5(DLD):c.513T>A (p.Thr171=)
|
|
|
NM_000108.5(DLD):c.516G>A (p.Gln172=)
|
rs777748761
|
|
NM_000108.5(DLD):c.552T>C (p.Gly184=)
|
|
|
NM_000108.5(DLD):c.582+11T>G
|
|
|
NM_000108.5(DLD):c.582+13C>A
|
|
|
NM_000108.5(DLD):c.582+16A>G
|
|
|
NM_000108.5(DLD):c.582+16_582+17insC
|
|
|
NM_000108.5(DLD):c.582+18T>C
|
|
|
NM_000108.5(DLD):c.582+18T>G
|
|
|
NM_000108.5(DLD):c.582+19T>G
|
|
|
NM_000108.5(DLD):c.582+7A>G
|
|
|
NM_000108.5(DLD):c.582+7A>T
|
|
|
NM_000108.5(DLD):c.583-15_583-14del
|
|
|
NM_000108.5(DLD):c.583-8T>A
|
|
|
NM_000108.5(DLD):c.585A>T (p.Ile195=)
|
|
|
NM_000108.5(DLD):c.597A>G (p.Thr199=)
|
rs768248572
|
|
NM_000108.5(DLD):c.615T>A (p.Gly205=)
|
|
|
NM_000108.5(DLD):c.627A>G (p.Leu209=)
|
|
|
NM_000108.5(DLD):c.630A>G (p.Lys210=)
|
|
|
NM_000108.5(DLD):c.636T>A (p.Val212=)
|
rs2116225767
|
|
NM_000108.5(DLD):c.654T>C (p.Val218=)
|
rs1584465590
|
|
NM_000108.5(DLD):c.660T>C (p.Gly220=)
|
rs2116225941
|
|
NM_000108.5(DLD):c.663A>G (p.Ala221=)
|
|
|
NM_000108.5(DLD):c.666A>G (p.Gly222=)
|
rs2116225961
|
|
NM_000108.5(DLD):c.66T>C (p.His22=)
|
rs2116162670
|
|
NM_000108.5(DLD):c.684+11T>A
|
|
|
NM_000108.5(DLD):c.684+20C>T
|
|
|
NM_000108.5(DLD):c.685-14T>C
|
|
|
NM_000108.5(DLD):c.685-17_685-14del
|
|
|
NM_000108.5(DLD):c.685-18T>G
|
|
|
NM_000108.5(DLD):c.685-19T>C
|
|
|
NM_000108.5(DLD):c.685-20T>C
|
|
|
NM_000108.5(DLD):c.685-4G>A
|
rs1584471861
|
|
NM_000108.5(DLD):c.685-4G>T
|
rs1584471861
|
|
NM_000108.5(DLD):c.685-8_685-5del
|
rs2032245429
|
|
NM_000108.5(DLD):c.685-9_685-5del
|
|
|
NM_000108.5(DLD):c.699A>G (p.Gln233=)
|
rs1418720698
|
|
NM_000108.5(DLD):c.69C>T (p.Gly23=)
|
|
|
NM_000108.5(DLD):c.6G>A (p.Gln2=)
|
rs559880901
|
|
NM_000108.5(DLD):c.700A>C (p.Arg234=)
|
|
|
NM_000108.5(DLD):c.70C>T (p.Leu24=)
|
rs369442554
|
|
NM_000108.5(DLD):c.720A>G (p.Thr240=)
|
|
|
NM_000108.5(DLD):c.723A>G (p.Ala241=)
|
rs751488296
|
|
NM_000108.5(DLD):c.729A>G (p.Glu243=)
|
rs2032247071
|
|
NM_000108.5(DLD):c.72A>G (p.Leu24=)
|
rs769445579
|
|
NM_000108.5(DLD):c.744A>G (p.Val248=)
|
|
|
NM_000108.5(DLD):c.789C>T (p.Arg263=)
|
|
|
NM_000108.5(DLD):c.807G>A (p.Gly269=)
|
|
|
NM_000108.5(DLD):c.828A>G (p.Thr276=)
|
rs2032250540
|
|
NM_000108.5(DLD):c.834T>C (p.Val278=)
|
rs1258445963
|
|
NM_000108.5(DLD):c.840T>A (p.Gly280=)
|
rs2116264411
|
|
NM_000108.5(DLD):c.84T>A (p.Ser28=)
|
|
|
NM_000108.5(DLD):c.84T>C (p.Ser28=)
|
|
|
NM_000108.5(DLD):c.870T>C (p.Asp290=)
|
|
|
NM_000108.5(DLD):c.873T>C (p.Val291=)
|
|
|
NM_000108.5(DLD):c.875+11A>G
|
|
|
NM_000108.5(DLD):c.875+13C>A
|
|
|
NM_000108.5(DLD):c.875+14A>G
|
|
|
NM_000108.5(DLD):c.875+20T>C
|
|
|
NM_000108.5(DLD):c.875+9A>G
|
|
|
NM_000108.5(DLD):c.876-14T>C
|
|
|
NM_000108.5(DLD):c.876-19T>C
|
|
|
NM_000108.5(DLD):c.876-5T>A
|
|
|
NM_000108.5(DLD):c.876-6A>C
|
|
|
NM_000108.5(DLD):c.876-6A>G
|
rs199944006
|
|
NM_000108.5(DLD):c.879T>C (p.Ile293=)
|
rs2116269476
|
|
NM_000108.5(DLD):c.888T>C (p.Ala296=)
|
rs2032281375
|
|
NM_000108.5(DLD):c.897T>C (p.Gly299=)
|
rs2116269619
|
|
NM_000108.5(DLD):c.906A>G (p.Glu302=)
|
rs2116269710
|
|
NM_000108.5(DLD):c.911T>C (p.Ile304Thr)
|
|
|
NM_000108.5(DLD):c.918T>C (p.Cys306=)
|
rs1433041129
|
|
NM_000108.5(DLD):c.924A>C (p.Val308=)
|
|
|
NM_000108.5(DLD):c.924A>G (p.Val308=)
|
|
|
NM_000108.5(DLD):c.93T>C (p.Pro31=)
|
rs1182818821
|
|
NM_000108.5(DLD):c.94C>T (p.Leu32=)
|
rs1241052092
|
|
NM_000108.5(DLD):c.954T>C (p.Phe318=)
|
rs2116270132
|
|
NM_000108.5(DLD):c.978G>A (p.Glu326=)
|
|
|
NM_000108.5(DLD):c.999C>G (p.Pro333=)
|
|
|
NM_000147.5(FUCA1):c.1014C>T (p.Asn338=)
|
rs2148438798
|
|
NM_000147.5(FUCA1):c.1032T>C (p.Asp344=)
|
|
|
NM_000147.5(FUCA1):c.1035A>T (p.Gly345=)
|
|
|
NM_000147.5(FUCA1):c.1038G>C (p.Leu346=)
|
|
|
NM_000147.5(FUCA1):c.1041T>C (p.Ile347=)
|
|
|
NM_000147.5(FUCA1):c.1065T>C (p.Leu355=)
|
|
|
NM_000147.5(FUCA1):c.1089C>T (p.Ser363=)
|
|
|
NM_000147.5(FUCA1):c.1092C>T (p.Ile364=)
|
|
|
NM_000147.5(FUCA1):c.1116C>T (p.Ser372=)
|
|
|
NM_000147.5(FUCA1):c.111C>T (p.Tyr37=)
|
|
|
NM_000147.5(FUCA1):c.1134A>G (p.Gln378=)
|
|
|
NM_000147.5(FUCA1):c.1149A>T (p.Thr383=)
|
|
|
NM_000147.5(FUCA1):c.1152A>G (p.Thr384=)
|
|
|
NM_000147.5(FUCA1):c.1158A>G (p.Val386=)
|
|
|
NM_000147.5(FUCA1):c.1160+10_1160+14del
|
|
|
NM_000147.5(FUCA1):c.1160+16T>C
|
rs2148438645
|
|
NM_000147.5(FUCA1):c.1160+17G>C
|
|
|
NM_000147.5(FUCA1):c.1160+20G>A
|
|
|
NM_000147.5(FUCA1):c.1161-17T>C
|
|
|
NM_000147.5(FUCA1):c.1161-19G>A
|
|
|
NM_000147.5(FUCA1):c.1161-21GT[3]
|
|
|
NM_000147.5(FUCA1):c.1161-5C>T
|
|
|
NM_000147.5(FUCA1):c.1209A>G (p.Pro403=)
|
|
|
NM_000147.5(FUCA1):c.1236C>T (p.Ser412=)
|
|
|
NM_000147.5(FUCA1):c.1260+14G>A
|
rs777928698
|
|
NM_000147.5(FUCA1):c.1260+14G>C
|
|
|
NM_000147.5(FUCA1):c.1260+14_1260+15insGACTGACTAA
|
rs571738393
|
|
NM_000147.5(FUCA1):c.1260+8G>A
|
|
|
NM_000147.5(FUCA1):c.1261-14T>A
|
|
|
NM_000147.5(FUCA1):c.1261-18C>T
|
|
|
NM_000147.5(FUCA1):c.1266A>G (p.Thr422=)
|
|
|
NM_000147.5(FUCA1):c.126G>A (p.Pro42=)
|
|
|
NM_000147.5(FUCA1):c.1272G>T (p.Leu424=)
|
rs2148436980
|
|
NM_000147.5(FUCA1):c.1281A>G (p.Gln427=)
|
|
|
NM_000147.5(FUCA1):c.1320C>G (p.Leu440=)
|
|
|
NM_000147.5(FUCA1):c.1323C>T (p.Phe441=)
|
|
|
NM_000147.5(FUCA1):c.1386G>C (p.Leu462=)
|
rs2148436874
|
|
NM_000147.5(FUCA1):c.153C>G (p.Ala51=)
|
|
|
NM_000147.5(FUCA1):c.15G>A (p.Gly5=)
|
|
|
NM_000147.5(FUCA1):c.15G>T (p.Gly5=)
|
|
|
NM_000147.5(FUCA1):c.162C>T (p.Asp54=)
|
|
|
NM_000147.5(FUCA1):c.177G>C (p.Gly59=)
|
|
|
NM_000147.5(FUCA1):c.189C>T (p.His63=)
|
|
|
NM_000147.5(FUCA1):c.249C>T (p.Gly83=)
|
|
|
NM_000147.5(FUCA1):c.255G>A (p.Gly85=)
|
|
|
NM_000147.5(FUCA1):c.27G>C (p.Arg9=)
|
|
|
NM_000147.5(FUCA1):c.291C>T (p.Tyr97=)
|
|
|
NM_000147.5(FUCA1):c.297C>T (p.Pro99=)
|
|
|
NM_000147.5(FUCA1):c.30G>A (p.Pro10=)
|
|
|
NM_000147.5(FUCA1):c.312C>G (p.Ala104=)
|
|
|
NM_000147.5(FUCA1):c.315C>T (p.Asp105=)
|
|
|
NM_000147.5(FUCA1):c.324G>T (p.Pro108=)
|
|
|
NM_000147.5(FUCA1):c.33G>T (p.Ala11=)
|
|
|
NM_000147.5(FUCA1):c.345C>T (p.Phe115=)
|
|
|
NM_000147.5(FUCA1):c.351G>T (p.Pro117=)
|
|
|
NM_000147.5(FUCA1):c.375G>A (p.Gln125=)
|
|
|
NM_000147.5(FUCA1):c.389+13C>A
|
|
|
NM_000147.5(FUCA1):c.389+14C>G
|
|
|
NM_000147.5(FUCA1):c.389+15G>C
|
rs1395597191
|
|
NM_000147.5(FUCA1):c.389+18G>A
|
|
|
NM_000147.5(FUCA1):c.389+20G>A
|
|
|
NM_000147.5(FUCA1):c.390-11G>C
|
|
|
NM_000147.5(FUCA1):c.390-6C>T
|
|
|
NM_000147.5(FUCA1):c.390-9T>C
|
|
|
NM_000147.5(FUCA1):c.393T>C (p.Tyr131=)
|
|
|
NM_000147.5(FUCA1):c.402G>A (p.Leu134=)
|
|
|
NM_000147.5(FUCA1):c.417C>T (p.His139=)
|
|
|
NM_000147.5(FUCA1):c.423C>T (p.Gly141=)
|
|
|
NM_000147.5(FUCA1):c.42G>A (p.Ala14=)
|
|
|
NM_000147.5(FUCA1):c.45G>A (p.Leu15=)
|
|
|
NM_000147.5(FUCA1):c.462C>T (p.Asn154=)
|
|
|
NM_000147.5(FUCA1):c.46T>C (p.Leu16=)
|
|
|
NM_000147.5(FUCA1):c.471C>T (p.Asp157=)
|
|
|
NM_000147.5(FUCA1):c.474G>A (p.Val158=)
|
|
|
NM_000147.5(FUCA1):c.489T>C (p.Asp163=)
|
rs1639604269
|
|
NM_000147.5(FUCA1):c.4C>A (p.Arg2=)
|
rs2070955
|
|
NM_000147.5(FUCA1):c.516C>G (p.Leu172=)
|
|
|
NM_000147.5(FUCA1):c.519G>A (p.Arg173=)
|
|
|
NM_000147.5(FUCA1):c.51G>A (p.Leu17=)
|
|
|
NM_000147.5(FUCA1):c.524+12G>C
|
|
|
NM_000147.5(FUCA1):c.524+14G>A
|
|
|
NM_000147.5(FUCA1):c.524+17G>T
|
|
|
NM_000147.5(FUCA1):c.524+18G>T
|
rs2148449061
|
|
NM_000147.5(FUCA1):c.524+7G>A
|
|
|
NM_000147.5(FUCA1):c.524+9C>T
|
|
|
NM_000147.5(FUCA1):c.525-13T>C
|
|
|
NM_000147.5(FUCA1):c.525-15_525-14del
|
|
|
NM_000147.5(FUCA1):c.525-19TTCTGTTT[3]
|
rs864309552
|
|
NM_000147.5(FUCA1):c.525-20G>A
|
|
|
NM_000147.5(FUCA1):c.525-7G>C
|
|
|
NM_000147.5(FUCA1):c.525-9_525-5del
|
rs759886522
|
|
NM_000147.5(FUCA1):c.541C>T (p.Leu181=)
|
rs760734726
|
|
NM_000147.5(FUCA1):c.543A>G (p.Leu181=)
|
|
|
NM_000147.5(FUCA1):c.54G>A (p.Leu18=)
|
|
|
NM_000147.5(FUCA1):c.573A>G (p.Pro191=)
|
|
|
NM_000147.5(FUCA1):c.585T>G (p.Leu195=)
|
|
|
NM_000147.5(FUCA1):c.609A>G (p.Thr203=)
|
|
|
NM_000147.5(FUCA1):c.654T>C (p.Leu218=)
|
|
|
NM_000147.5(FUCA1):c.657T>C (p.Val219=)
|
|
|
NM_000147.5(FUCA1):c.662+10T>A
|
|
|
NM_000147.5(FUCA1):c.662+12A>G
|
|
|
NM_000147.5(FUCA1):c.663-11_663-10del
|
|
|
NM_000147.5(FUCA1):c.66C>T (p.Leu22=)
|
|
|
NM_000147.5(FUCA1):c.6G>C (p.Arg2=)
|
|
|
NM_000147.5(FUCA1):c.729A>G (p.Thr243=)
|
|
|
NM_000147.5(FUCA1):c.72G>A (p.Ala24=)
|
|
|
NM_000147.5(FUCA1):c.738T>G (p.Leu246=)
|
|
|
NM_000147.5(FUCA1):c.750C>T (p.Tyr250=)
|
|
|
NM_000147.5(FUCA1):c.768+19T>A
|
|
|
NM_000147.5(FUCA1):c.768+8A>G
|
rs752291671
|
|
NM_000147.5(FUCA1):c.769-14C>A
|
|
|
NM_000147.5(FUCA1):c.769-18T>C
|
|
|
NM_000147.5(FUCA1):c.769-4T>C
|
|
|
NM_000147.5(FUCA1):c.777G>A (p.Val259=)
|
|
|
NM_000147.5(FUCA1):c.783A>G (p.Val261=)
|
|
|
NM_000147.5(FUCA1):c.81G>C (p.Ser27=)
|
|
|
NM_000147.5(FUCA1):c.843T>C (p.Asp281=)
|
|
|
NM_000147.5(FUCA1):c.84G>T (p.Val28=)
|
|
|
NM_000147.5(FUCA1):c.933A>G (p.Ala311=)
|
|
|
NM_000147.5(FUCA1):c.93C>T (p.Ala31=)
|
|
|
NM_000147.5(FUCA1):c.954A>G (p.Glu318=)
|
|
|
NM_000147.5(FUCA1):c.969+11C>A
|
rs2148442736
|
|
NM_000147.5(FUCA1):c.969+15G>A
|
|
|
NM_000147.5(FUCA1):c.970-12T>C
|
|
|
NM_000147.5(FUCA1):c.970-17G>A
|
|
|
NM_000147.5(FUCA1):c.970-18T>C
|
|
|
NM_000147.5(FUCA1):c.970-6C>T
|
|
|
NM_000147.5(FUCA1):c.970-7T>C
|
|
|
NM_000147.5(FUCA1):c.9T>C (p.Ala3=)
|
|
|
NM_000151.4(G6PC1):c.1003C>T (p.Leu335=)
|
|
|
NM_000151.4(G6PC1):c.1005G>A (p.Leu335=)
|
|
|
NM_000151.4(G6PC1):c.1008A>G (p.Ala336=)
|
|
|
NM_000151.4(G6PC1):c.1014C>T (p.Val338=)
|
rs2151932415
|
|
NM_000151.4(G6PC1):c.1020C>T (p.Val340=)
|
|
|
NM_000151.4(G6PC1):c.1023C>A (p.Ile341=)
|
rs2056095309
|
|
NM_000151.4(G6PC1):c.1023C>T (p.Ile341=)
|
|
|
NM_000151.4(G6PC1):c.1035C>A (p.Leu345=)
|
|
|
NM_000151.4(G6PC1):c.1044C>G (p.Val348=)
|
rs975072899
|
|
NM_000151.4(G6PC1):c.1047G>T (p.Leu349=)
|
rs1209679697
|
|
NM_000151.4(G6PC1):c.1050C>A (p.Gly350=)
|
rs2151932440
|
|
NM_000151.4(G6PC1):c.1056G>C (p.Pro352=)
|
|
|
NM_000151.4(G6PC1):c.1056G>T (p.Pro352=)
|
|
|
NM_000151.4(G6PC1):c.114C>T (p.Asp38=)
|
rs2151929114
|
|
NM_000151.4(G6PC1):c.126C>A (p.Ala42=)
|
|
|
NM_000151.4(G6PC1):c.126C>T (p.Ala42=)
|
|
|
NM_000151.4(G6PC1):c.135C>A (p.Val45=)
|
|
|
NM_000151.4(G6PC1):c.141C>T (p.Phe47=)
|
rs1597986869
|
|
NM_000151.4(G6PC1):c.144C>T (p.Pro48=)
|
rs2151929134
|
|
NM_000151.4(G6PC1):c.147C>T (p.Ile49=)
|
|
|
NM_000151.4(G6PC1):c.156T>C (p.His52=)
|
|
|
NM_000151.4(G6PC1):c.195T>A (p.Ala65=)
|
|
|
NM_000151.4(G6PC1):c.216C>T (p.Asn72=)
|
rs2151929168
|
|
NM_000151.4(G6PC1):c.219C>T (p.Leu73=)
|
rs373545775
|
|
NM_000151.4(G6PC1):c.230+10A>G
|
|
|
NM_000151.4(G6PC1):c.230+11T>C
|
rs756151664
|
|
NM_000151.4(G6PC1):c.230+13T>C
|
|
|
NM_000151.4(G6PC1):c.230+14A>G
|
rs780134732
|
|
NM_000151.4(G6PC1):c.230+16A>G
|
|
|
NM_000151.4(G6PC1):c.230+8C>T
|
|
|
NM_000151.4(G6PC1):c.230+9C>A
|
|
|
NM_000151.4(G6PC1):c.231-10T>C
|
|
|
NM_000151.4(G6PC1):c.231-15T>C
|
|
|
NM_000151.4(G6PC1):c.231-17G>T
|
|
|
NM_000151.4(G6PC1):c.231-20C>G
|
|
|
NM_000151.4(G6PC1):c.231-5C>T
|
rs1332657768
|
|
NM_000151.4(G6PC1):c.231-7T>C
|
|
|
NM_000151.4(G6PC1):c.231-8T>A
|
rs2151929984
|
|
NM_000151.4(G6PC1):c.234T>C (p.Ile78=)
|
|
|
NM_000151.4(G6PC1):c.240T>C (p.Phe80=)
|
|
|
NM_000151.4(G6PC1):c.246G>A (p.Gln82=)
|
rs1026799180
|
|
NM_000151.4(G6PC1):c.252A>G (p.Pro84=)
|
rs148967047
|
|
NM_000151.4(G6PC1):c.255C>T (p.Tyr85=)
|
rs748363083
|
|
NM_000151.4(G6PC1):c.273T>G (p.Thr91=)
|
rs2151930014
|
|
NM_000151.4(G6PC1):c.285C>T (p.Ser95=)
|
rs1344809349
|
|
NM_000151.4(G6PC1):c.297G>A (p.Val99=)
|
|
|
NM_000151.4(G6PC1):c.297G>T (p.Val99=)
|
|
|
NM_000151.4(G6PC1):c.315C>T (p.Phe105=)
|
rs2151930034
|
|
NM_000151.4(G6PC1):c.340+10C>T
|
|
|
NM_000151.4(G6PC1):c.340+14C>T
|
|
|
NM_000151.4(G6PC1):c.340+7G>C
|
|
|
NM_000151.4(G6PC1):c.340+7G>T
|
rs570199529
|
|
NM_000151.4(G6PC1):c.340+8T>A
|
|
|
NM_000151.4(G6PC1):c.340+9C>T
|
|
|
NM_000151.4(G6PC1):c.341-18C>A
|
|
|
NM_000151.4(G6PC1):c.341-6C>T
|
|
|
NM_000151.4(G6PC1):c.341-8C>A
|
|
|
NM_000151.4(G6PC1):c.341-8C>G
|
|
|
NM_000151.4(G6PC1):c.341-8C>T
|
|
|
NM_000151.4(G6PC1):c.342G>T (p.Gly114=)
|
|
|
NM_000151.4(G6PC1):c.354C>T (p.Gly118=)
|
|
|
NM_000151.4(G6PC1):c.360C>T (p.Ala120=)
|
rs2151931156
|
|
NM_000151.4(G6PC1):c.369A>G (p.Thr123=)
|
|
|
NM_000151.4(G6PC1):c.381C>T (p.Tyr127=)
|
rs1555559741
|
|
NM_000151.4(G6PC1):c.396A>G (p.Thr132=)
|
|
|
NM_000151.4(G6PC1):c.399T>C (p.Ser133=)
|
|
|
NM_000151.4(G6PC1):c.402T>C (p.Thr134=)
|
rs2151931180
|
|
NM_000151.4(G6PC1):c.405T>C (p.Leu135=)
|
rs2151931181
|
|
NM_000151.4(G6PC1):c.42G>A (p.Gln14=)
|
rs763922040
|
|
NM_000151.4(G6PC1):c.432G>C (p.Pro144=)
|
|
|
NM_000151.4(G6PC1):c.435C>G (p.Thr145=)
|
rs745770086
|
|
NM_000151.4(G6PC1):c.435C>T (p.Thr145=)
|
|
|
NM_000151.4(G6PC1):c.446+17G>A
|
|
|
NM_000151.4(G6PC1):c.446+19G>A
|
|
|
NM_000151.4(G6PC1):c.446+19G>T
|
|
|
NM_000151.4(G6PC1):c.446+20G>A
|
|
|
NM_000151.4(G6PC1):c.446+20G>T
|
|
|
NM_000151.4(G6PC1):c.446+7A>C
|
rs1003569893
|
|
NM_000151.4(G6PC1):c.447-6T>C
|
rs1597990833
|
|
NM_000151.4(G6PC1):c.450C>T (p.Cys150=)
|
|
|
NM_000151.4(G6PC1):c.456T>C (p.Asn152=)
|
rs1271832382
|
|
NM_000151.4(G6PC1):c.459C>T (p.Val153=)
|
rs747740866
|
|
NM_000151.4(G6PC1):c.45A>G (p.Ser15=)
|
rs1394010585
|
|
NM_000151.4(G6PC1):c.469T>C (p.Leu157=)
|
|
|
NM_000151.4(G6PC1):c.471G>A (p.Leu157=)
|
|
|
NM_000151.4(G6PC1):c.486G>A (p.Val162=)
|
|
|
NM_000151.4(G6PC1):c.48A>C (p.Thr16=)
|
|
|
NM_000151.4(G6PC1):c.534T>C (p.Pro178=)
|
rs774585761
|
|
NM_000151.4(G6PC1):c.549T>C (p.Ala183=)
|
rs375921716
|
|
NM_000151.4(G6PC1):c.562+11A>C
|
|
|
NM_000151.4(G6PC1):c.562+19C>T
|
|
|
NM_000151.4(G6PC1):c.562+25_562+28del
|
|
|
NM_000151.4(G6PC1):c.562+9T>C
|
rs1263744036
|
|
NM_000151.4(G6PC1):c.563-18A>G
|
|
|
NM_000151.4(G6PC1):c.563-18A>T
|
|
|
NM_000151.4(G6PC1):c.563-5C>T
|
rs1246163955
|
|
NM_000151.4(G6PC1):c.563-8C>T
|
|
|
NM_000151.4(G6PC1):c.570T>C (p.Ala190=)
|
rs753671536
|
|
NM_000151.4(G6PC1):c.57C>T (p.Leu19=)
|
|
|
NM_000151.4(G6PC1):c.600C>T (p.Ser200=)
|
rs2151932246
|
|
NM_000151.4(G6PC1):c.633C>T (p.Leu211=)
|
|
|
NM_000151.4(G6PC1):c.646C>T (p.Leu216=)
|
rs749665480
|
|
NM_000151.4(G6PC1):c.663C>T (p.Ile221=)
|
rs747134498
|
|
NM_000151.4(G6PC1):c.673C>T (p.Leu225=)
|
|
|
NM_000151.4(G6PC1):c.678G>C (p.Leu226=)
|
|
|
NM_000151.4(G6PC1):c.693T>C (p.Gly231=)
|
|
|
NM_000151.4(G6PC1):c.69C>T (p.Tyr23=)
|
|
|
NM_000151.4(G6PC1):c.702C>G (p.Leu234=)
|
rs1356828030
|
|
NM_000151.4(G6PC1):c.702C>T (p.Leu234=)
|
|
|
NM_000151.4(G6PC1):c.705G>A (p.Leu235=)
|
rs1233768137
|
|
NM_000151.4(G6PC1):c.729G>A (p.Arg243=)
|
|
|
NM_000151.4(G6PC1):c.747A>G (p.Glu249=)
|
|
|
NM_000151.4(G6PC1):c.753C>A (p.Val251=)
|
rs1422424986
|
|
NM_000151.4(G6PC1):c.753C>T (p.Val251=)
|
rs1422424986
|
|
NM_000151.4(G6PC1):c.762C>T (p.Asp254=)
|
|
|
NM_000151.4(G6PC1):c.765C>T (p.Thr255=)
|
rs1555560144
|
|
NM_000151.4(G6PC1):c.771C>T (p.Pro257=)
|
|
|
NM_000151.4(G6PC1):c.783C>T (p.Leu261=)
|
|
|
NM_000151.4(G6PC1):c.786C>G (p.Leu262=)
|
|
|
NM_000151.4(G6PC1):c.789G>A (p.Lys263=)
|
|
|
NM_000151.4(G6PC1):c.792C>T (p.Asn264=)
|
|
|
NM_000151.4(G6PC1):c.801G>T (p.Thr267=)
|
rs755630386
|
|
NM_000151.4(G6PC1):c.810C>G (p.Gly270=)
|
|
|
NM_000151.4(G6PC1):c.811C>T (p.Leu271=)
|
rs2151932325
|
|
NM_000151.4(G6PC1):c.813G>C (p.Leu271=)
|
|
|
NM_000151.4(G6PC1):c.816G>A (p.Gly272=)
|
|
|
NM_000151.4(G6PC1):c.816G>T (p.Gly272=)
|
rs762728678
|
|
NM_000151.4(G6PC1):c.846G>A (p.Glu282=)
|
rs374980545
|
|
NM_000151.4(G6PC1):c.855G>A (p.Lys285=)
|
|
|
NM_000151.4(G6PC1):c.891C>T (p.Ser297=)
|
|
|
NM_000151.4(G6PC1):c.903C>T (p.Ala301=)
|
|
|
NM_000151.4(G6PC1):c.909C>G (p.Leu303=)
|
|
|
NM_000151.4(G6PC1):c.918G>A (p.Leu306=)
|
|
|
NM_000151.4(G6PC1):c.927T>C (p.Phe309=)
|
|
|
NM_000151.4(G6PC1):c.930C>T (p.Asp310=)
|
rs1454392916
|
|
NM_000151.4(G6PC1):c.93C>T (p.Ile31=)
|
|
|
NM_000151.4(G6PC1):c.945A>G (p.Pro315=)
|
rs2056094359
|
|
NM_000151.4(G6PC1):c.948C>T (p.Ser316=)
|
|
|
NM_000151.4(G6PC1):c.94T>C (p.Leu32=)
|
rs1185147855
|
|
NM_000151.4(G6PC1):c.954C>A (p.Val318=)
|
|
|
NM_000151.4(G6PC1):c.954C>T (p.Val318=)
|
rs372612424
|
|
NM_000151.4(G6PC1):c.957G>A (p.Glu319=)
|
|
|
NM_000151.4(G6PC1):c.960G>A (p.Leu320=)
|
|
|
NM_000151.4(G6PC1):c.966C>T (p.Phe322=)
|
rs1399520060
|
|
NM_000151.4(G6PC1):c.993G>C (p.Ala331=)
|
rs369238258
|
|
NM_000151.4(G6PC1):c.999G>A (p.Val333=)
|
rs2151932408
|
|
NM_000151.4(G6PC1):c.9A>G (p.Glu3=)
|
rs2151929054
|
|
NM_000152.5(GAA):c.1005G>A (p.Gly335=)
|
rs1598576696
|
|
NM_000152.5(GAA):c.1005G>C (p.Gly335=)
|
|
|
NM_000152.5(GAA):c.1008C>A (p.Ile336=)
|
rs994615279
|
|
NM_000152.5(GAA):c.1008C>T (p.Ile336=)
|
|
|
NM_000152.5(GAA):c.1009C>T (p.Leu337=)
|
rs1387814304
|
|
NM_000152.5(GAA):c.1011G>T (p.Leu337=)
|
|
|
NM_000152.5(GAA):c.1017C>T (p.Val339=)
|
rs1242745765
|
|
NM_000152.5(GAA):c.1020C>T (p.Tyr340=)
|
rs1358917187
|
|
NM_000152.5(GAA):c.1023C>A (p.Ile341=)
|
|
|
NM_000152.5(GAA):c.1026C>T (p.Phe342=)
|
rs910930578
|
|
NM_000152.5(GAA):c.1035A>C (p.Pro345=)
|
rs942325926
|
|
NM_000152.5(GAA):c.1041C>T (p.Pro347=)
|
rs1489442441
|
|
NM_000152.5(GAA):c.105C>T (p.Phe35=)
|
|
|
NM_000152.5(GAA):c.1062C>T (p.Tyr354=)
|
rs1064796703
|
|
NM_000152.5(GAA):c.1065G>A (p.Leu355=)
|
rs2143853784
|
|
NM_000152.5(GAA):c.1071T>C (p.Val357=)
|
rs1598576937
|
|
NM_000152.5(GAA):c.1075+10G>A
|
|
|
NM_000152.5(GAA):c.1075+14C>G
|
|
|
NM_000152.5(GAA):c.1075+14C>T
|
rs376547092
|
|
NM_000152.5(GAA):c.1075+15C>T
|
|
|
NM_000152.5(GAA):c.1075+16T>C
|
|
|
NM_000152.5(GAA):c.1075+18G>A
|
|
|
NM_000152.5(GAA):c.1075+7C>T
|
|
|
NM_000152.5(GAA):c.1075+8del
|
|
|
NM_000152.5(GAA):c.1076-12G>A
|
|
|
NM_000152.5(GAA):c.1076-12del
|
rs2039148326
|
|
NM_000152.5(GAA):c.1076-13C>T
|
|
|
NM_000152.5(GAA):c.1076-14G>A
|
rs2143854410
|
|
NM_000152.5(GAA):c.1076-15G>A
|
rs370414054
|
|
NM_000152.5(GAA):c.1076-15G>C
|
rs370414054
|
|
NM_000152.5(GAA):c.1076-15G>T
|
|
|
NM_000152.5(GAA):c.1076-4G>T
|
rs2039148417
|
|
NM_000152.5(GAA):c.1076-7C>T
|
|
|
NM_000152.5(GAA):c.1076-8G>A
|
|
|
NM_000152.5(GAA):c.1080C>T (p.Tyr360=)
|
rs2143854519
|
|
NM_000152.5(GAA):c.1086C>T (p.Phe362=)
|
rs2143854600
|
|
NM_000152.5(GAA):c.108G>C (p.Leu36=)
|
rs1369758261
|
|
NM_000152.5(GAA):c.108G>T (p.Leu36=)
|
rs1369758261
|
|
NM_000152.5(GAA):c.1092G>A (p.Pro364=)
|
rs777730774
|
|
NM_000152.5(GAA):c.1092G>C (p.Pro364=)
|
|
|
NM_000152.5(GAA):c.1095A>C (p.Pro365=)
|
rs1555600060
|
|
NM_000152.5(GAA):c.1098C>T (p.Tyr366=)
|
rs2143854770
|
|
NM_000152.5(GAA):c.1105C>T (p.Leu369=)
|
rs2143854883
|
|
NM_000152.5(GAA):c.1107G>A (p.Leu369=)
|
|
|
NM_000152.5(GAA):c.1107G>C (p.Leu369=)
|
|
|
NM_000152.5(GAA):c.1110C>T (p.Gly370=)
|
rs775172804
|
|
NM_000152.5(GAA):c.1119G>A (p.Leu373=)
|
rs763579808
|
|
NM_000152.5(GAA):c.1122C>T (p.Cys374=)
|
rs1342501706
|
|
NM_000152.5(GAA):c.1134C>T (p.Tyr378=)
|
rs1567830317
|
|
NM_000152.5(GAA):c.1137C>G (p.Ser379=)
|
rs2039151138
|
|
NM_000152.5(GAA):c.1140C>A (p.Ser380=)
|
rs1214685237
|
|
NM_000152.5(GAA):c.1140C>T (p.Ser380=)
|
rs1214685237
|
|
NM_000152.5(GAA):c.1149C>T (p.Ile383=)
|
|
|
NM_000152.5(GAA):c.1155C>G (p.Arg385=)
|
|
|
NM_000152.5(GAA):c.1155C>T (p.Arg385=)
|
rs2143855573
|
|
NM_000152.5(GAA):c.1164G>A (p.Val388=)
|
rs2143855798
|
|
NM_000152.5(GAA):c.1176C>T (p.Thr392=)
|
rs2143855934
|
|
NM_000152.5(GAA):c.117C>T (p.Pro39=)
|
|
|
NM_000152.5(GAA):c.1182C>T (p.Ala394=)
|
rs771894765
|
|
NM_000152.5(GAA):c.1185C>T (p.His395=)
|
rs2143856022
|
|
NM_000152.5(GAA):c.1188C>T (p.Phe396=)
|
rs756126944
|
|
NM_000152.5(GAA):c.1191C>G (p.Pro397=)
|
|
|
NM_000152.5(GAA):c.1194+10G>A
|
rs2143856297
|
|
NM_000152.5(GAA):c.1194+10G>T
|
|
|
NM_000152.5(GAA):c.1194+11G>T
|
|
|
NM_000152.5(GAA):c.1194+13G>A
|
|
|
NM_000152.5(GAA):c.1194+15T>A
|
|
|
NM_000152.5(GAA):c.1194+15T>C
|
|
|
NM_000152.5(GAA):c.1194+19dup
|
|
|
NM_000152.5(GAA):c.1194+20G>C
|
|
|
NM_000152.5(GAA):c.1194+8G>T
|
rs2143856250
|
|
NM_000152.5(GAA):c.1194+9G>A
|
|
|
NM_000152.5(GAA):c.1194+9G>T
|
|
|
NM_000152.5(GAA):c.1195-15G>C
|
rs373840229
|
|
NM_000152.5(GAA):c.1195-16C>T
|
|
|
NM_000152.5(GAA):c.1195-17C>G
|
|
|
NM_000152.5(GAA):c.1195-18C>A
|
|
|
NM_000152.5(GAA):c.1195-19T>C
|
|
|
NM_000152.5(GAA):c.1195-4G>A
|
|
|
NM_000152.5(GAA):c.1195-5T>C
|
rs2143856963
|
|
NM_000152.5(GAA):c.1195-7del
|
|
|
NM_000152.5(GAA):c.1195-9T>C
|
rs2143856933
|
|
NM_000152.5(GAA):c.1200C>T (p.Val400=)
|
|
|
NM_000152.5(GAA):c.1209C>T (p.Asn403=)
|
rs751333479
|
|
NM_000152.5(GAA):c.1212C>T (p.Asp404=)
|
rs2143857187
|
|
NM_000152.5(GAA):c.1215G>A (p.Leu405=)
|
|
|
NM_000152.5(GAA):c.1218C>T (p.Asp406=)
|
rs2039157400
|
|
NM_000152.5(GAA):c.1230C>A (p.Ser410=)
|
rs746340075
|
|
NM_000152.5(GAA):c.1234A>C (p.Arg412=)
|
|
|
NM_000152.5(GAA):c.1236G>A (p.Arg412=)
|
|
|
NM_000152.5(GAA):c.1239C>T (p.Asp413=)
|
rs2039158556
|
|
NM_000152.5(GAA):c.1260C>A (p.Gly420=)
|
|
|
NM_000152.5(GAA):c.1260C>G (p.Gly420=)
|
|
|
NM_000152.5(GAA):c.126G>C (p.Leu42=)
|
rs2143825047
|
|
NM_000152.5(GAA):c.1278C>T (p.Ala426=)
|
|
|
NM_000152.5(GAA):c.1284G>T (p.Val428=)
|
rs2143857912
|
|
NM_000152.5(GAA):c.1293G>T (p.Leu431=)
|
rs1172862164
|
|
NM_000152.5(GAA):c.1296C>T (p.His432=)
|
rs2143858058
|
|
NM_000152.5(GAA):c.1306C>A (p.Arg436=)
|
|
|
NM_000152.5(GAA):c.1311C>T (p.Arg437=)
|
rs1234415461
|
|
NM_000152.5(GAA):c.1314C>T (p.Tyr438=)
|
|
|
NM_000152.5(GAA):c.1323C>A (p.Ile441=)
|
|
|
NM_000152.5(GAA):c.1326+12C>G
|
|
|
NM_000152.5(GAA):c.1326+15A>G
|
rs2143858786
|
|
NM_000152.5(GAA):c.1326+16C>G
|
|
|
NM_000152.5(GAA):c.1326+16C>T
|
|
|
NM_000152.5(GAA):c.1326+20G>T
|
rs774138443
|
|
NM_000152.5(GAA):c.1326+7G>A
|
|
|
NM_000152.5(GAA):c.1326+8C>G
|
|
|
NM_000152.5(GAA):c.1326+8C>T
|
rs762988038
|
|
NM_000152.5(GAA):c.1327-10C>T
|
|
|
NM_000152.5(GAA):c.1327-12C>T
|
|
|
NM_000152.5(GAA):c.1327-16G>A
|
|
|
NM_000152.5(GAA):c.1327-16G>T
|
rs1378637239
|
|
NM_000152.5(GAA):c.1327-18A>C
|
|
|
NM_000152.5(GAA):c.1327-19_1327-18inv
|
|
|
NM_000152.5(GAA):c.1327-20A>G
|
rs2143865452
|
|
NM_000152.5(GAA):c.1327-4C>T
|
|
|
NM_000152.5(GAA):c.1327-5C>A
|
rs1314883749
|
|
NM_000152.5(GAA):c.1327-5C>T
|
|
|
NM_000152.5(GAA):c.1327-8C>T
|
rs1598579967
|
|
NM_000152.5(GAA):c.1327-9T>C
|
|
|
NM_000152.5(GAA):c.132C>T (p.Gly44=)
|
rs2143825106
|
|
NM_000152.5(GAA):c.1341C>T (p.Ser447=)
|
|
|
NM_000152.5(GAA):c.1346C>T (p.Ser449Leu)
|
rs753483808
|
|
NM_000152.5(GAA):c.1347G>C (p.Ser449=)
|
rs756938942
|
|
NM_000152.5(GAA):c.1359G>A (p.Gly453=)
|
rs2143866026
|
|
NM_000152.5(GAA):c.135C>T (p.Ser45=)
|
rs2143825187
|
|
NM_000152.5(GAA):c.1362C>T (p.Ser454=)
|
|
|
NM_000152.5(GAA):c.1386G>T (p.Leu462=)
|
|
|
NM_000152.5(GAA):c.138C>G (p.Ser46=)
|
rs753375900
|
|
NM_000152.5(GAA):c.1390A>C (p.Arg464=)
|
|
|
NM_000152.5(GAA):c.1392G>A (p.Arg464=)
|
rs372786811
|
|
NM_000152.5(GAA):c.1395G>A (p.Gly465=)
|
rs2143866655
|
|
NM_000152.5(GAA):c.1416C>A (p.Thr472=)
|
rs368492669
|
|
NM_000152.5(GAA):c.1416C>G (p.Thr472=)
|
rs368492669
|
|
NM_000152.5(GAA):c.1422G>A (p.Gln474=)
|
|
|
NM_000152.5(GAA):c.1426C>T (p.Leu476=)
|
|
|
NM_000152.5(GAA):c.1434G>A (p.Gly478=)
|
rs886043285
|
|
NM_000152.5(GAA):c.1437+15C>T
|
rs2143867420
|
|
NM_000152.5(GAA):c.1437+16A>G
|
|
|
NM_000152.5(GAA):c.1437+16_1437+22dup
|
|
|
NM_000152.5(GAA):c.1437+18G>C
|
|
|
NM_000152.5(GAA):c.1437+20G>A
|
rs768737799
|
|
NM_000152.5(GAA):c.1437+20G>C
|
|
|
NM_000152.5(GAA):c.1437+20G>T
|
|
|
NM_000152.5(GAA):c.1437+7C>G
|
rs757605518
|
|
NM_000152.5(GAA):c.1437+7C>T
|
rs757605518
|
|
NM_000152.5(GAA):c.1437+8G>C
|
rs779194427
|
|
NM_000152.5(GAA):c.1438-12C>G
|
|
|
NM_000152.5(GAA):c.1438-12C>T
|
|
|
NM_000152.5(GAA):c.1438-13T>C
|
rs1598581379
|
|
NM_000152.5(GAA):c.1438-14C>T
|
|
|
NM_000152.5(GAA):c.1438-15_1438-1del
|
rs1567832762
|
|
NM_000152.5(GAA):c.1438-19G>A
|
|
|
NM_000152.5(GAA):c.1438-6G>C
|
rs1252384762
|
|
NM_000152.5(GAA):c.1438-7T>C
|
rs1484346995
|
|
NM_000152.5(GAA):c.1438-9G>C
|
|
|
NM_000152.5(GAA):c.1438-9G>T
|
rs202211401
|
|
NM_000152.5(GAA):c.1440A>G (p.Val480=)
|
rs1555600737
|
|
NM_000152.5(GAA):c.144C>T (p.Val48=)
|
rs1055575232
|
|
NM_000152.5(GAA):c.1455T>C (p.Thr485=)
|
rs774037839
|
|
NM_000152.5(GAA):c.1461C>T (p.Phe487=)
|
|
|
NM_000152.5(GAA):c.147G>A (p.Leu49=)
|
rs915625623
|
|
NM_000152.5(GAA):c.1486C>T (p.Leu496=)
|
rs1598581572
|
|
NM_000152.5(GAA):c.1509G>A (p.Val503=)
|
rs2143872732
|
|
NM_000152.5(GAA):c.1518C>T (p.Phe506=)
|
rs1464913441
|
|
NM_000152.5(GAA):c.1527G>A (p.Gln509=)
|
|
|
NM_000152.5(GAA):c.1533C>G (p.Pro511=)
|
rs1598581655
|
|
NM_000152.5(GAA):c.1536C>T (p.Phe512=)
|
rs143491365
|
|
NM_000152.5(GAA):c.1551+10G>A
|
|
|
NM_000152.5(GAA):c.1551+10dup
|
rs2143873218
|
|
NM_000152.5(GAA):c.1551+11C>T
|
|
|
NM_000152.5(GAA):c.1551+15C>G
|
|
|
NM_000152.5(GAA):c.1551+20G>A
|
|
|
NM_000152.5(GAA):c.1551+7G>T
|
rs1340464172
|
|
NM_000152.5(GAA):c.1552-10del
|
|
|
NM_000152.5(GAA):c.1552-12C>A
|
rs2143873890
|
|
NM_000152.5(GAA):c.1552-16A>G
|
|
|
NM_000152.5(GAA):c.1552-20C>T
|
|
|
NM_000152.5(GAA):c.1552-7C>G
|
|
|
NM_000152.5(GAA):c.1552-7C>T
|
rs2039221235
|
|
NM_000152.5(GAA):c.1552-8T>C
|
rs2039221161
|
|
NM_000152.5(GAA):c.156T>A (p.Thr52=)
|
rs2143825403
|
|
NM_000152.5(GAA):c.1572C>T (p.Asn524=)
|
rs1417304813
|
|
NM_000152.5(GAA):c.159C>T (p.His53=)
|
rs2143825464
|
|
NM_000152.5(GAA):c.1602C>A (p.Pro534=)
|
rs1241189076
|
|
NM_000152.5(GAA):c.1612C>T (p.Leu538=)
|
|
|
NM_000152.5(GAA):c.1632G>C (p.Val544=)
|
|
|
NM_000152.5(GAA):c.1632G>T (p.Val544=)
|
|
|
NM_000152.5(GAA):c.1636+10C>G
|
rs778634411
|
|
NM_000152.5(GAA):c.1636+10C>T
|
rs778634411
|
|
NM_000152.5(GAA):c.1636+11C>T
|
|
|
NM_000152.5(GAA):c.1636+12C>G
|
|
|
NM_000152.5(GAA):c.1636+12C>T
|
|
|
NM_000152.5(GAA):c.1636+15C>G
|
|
|
NM_000152.5(GAA):c.1636+15C>T
|
|
|
NM_000152.5(GAA):c.1636+15dup
|
rs765563836
|
|
NM_000152.5(GAA):c.1636+17C>T
|
rs1003384850
|
|
NM_000152.5(GAA):c.1636+18C>T
|
|
|
NM_000152.5(GAA):c.1636+19T>A
|
|
|
NM_000152.5(GAA):c.1636+7del
|
|
|
NM_000152.5(GAA):c.1636+9G>T
|
rs200302174
|
|
NM_000152.5(GAA):c.1637-10C>T
|
rs2143881993
|
|
NM_000152.5(GAA):c.1637-11G>C
|
|
|
NM_000152.5(GAA):c.1637-19C>T
|
|
|
NM_000152.5(GAA):c.1637-9C>T
|
rs1598583515
|
|
NM_000152.5(GAA):c.1638G>A (p.Gly546=)
|
rs1260256483
|
|
NM_000152.5(GAA):c.1650G>A (p.Gly550=)
|
rs747638133
|
|
NM_000152.5(GAA):c.1656C>A (p.Leu552=)
|
rs2039246860
|
|
NM_000152.5(GAA):c.1668C>T (p.Thr556=)
|
rs1415372735
|
|
NM_000152.5(GAA):c.1671C>A (p.Ile557=)
|
|
|
NM_000152.5(GAA):c.1674T>C (p.Cys558=)
|
rs2143882693
|
|
NM_000152.5(GAA):c.1680C>T (p.Ser560=)
|
rs2143882734
|
|
NM_000152.5(GAA):c.1683C>T (p.Ser561=)
|
rs2143882764
|
|
NM_000152.5(GAA):c.1686C>T (p.His562=)
|
|
|
NM_000152.5(GAA):c.1692T>C (p.Phe564=)
|
rs886043997
|
|
NM_000152.5(GAA):c.1695C>G (p.Leu565=)
|
rs2143882915
|
|
NM_000152.5(GAA):c.1704C>T (p.His568=)
|
rs776882059
|
|
NM_000152.5(GAA):c.1711C>T (p.Leu571=)
|
rs1405669960
|
|
NM_000152.5(GAA):c.1716C>T (p.His572=)
|
rs772962666
|
|
NM_000152.5(GAA):c.1719C>T (p.Asn573=)
|
rs1175728529
|
|
NM_000152.5(GAA):c.1722C>T (p.Leu574=)
|
rs561357893
|
|
NM_000152.5(GAA):c.1728C>G (p.Gly576=)
|
rs2143883499
|
|
NM_000152.5(GAA):c.1728C>T (p.Gly576=)
|
|
|
NM_000152.5(GAA):c.1731G>A (p.Leu577=)
|
|
|
NM_000152.5(GAA):c.1731G>T (p.Leu577=)
|
|
|
NM_000152.5(GAA):c.1734C>T (p.Thr578=)
|
rs149384771
|
|
NM_000152.5(GAA):c.1743C>T (p.Ile581=)
|
rs527970795
|
|
NM_000152.5(GAA):c.1746C>T (p.Ala582=)
|
|
|
NM_000152.5(GAA):c.1752C>T (p.His584=)
|
|
|
NM_000152.5(GAA):c.1754+12G>T
|
|
|
NM_000152.5(GAA):c.1754+15C>T
|
|
|
NM_000152.5(GAA):c.1754+18C>T
|
|
|
NM_000152.5(GAA):c.1754+9C>G
|
rs1319204794
|
|
NM_000152.5(GAA):c.1755-12C>A
|
|
|
NM_000152.5(GAA):c.1755-16del
|
|
|
NM_000152.5(GAA):c.1755-17G>A
|
|
|
NM_000152.5(GAA):c.1755-19G>A
|
|
|
NM_000152.5(GAA):c.1755-20G>A
|
|
|
NM_000152.5(GAA):c.1755-5C>T
|
|
|
NM_000152.5(GAA):c.1755-8C>G
|
|
|
NM_000152.5(GAA):c.1755-9C>T
|
|
|
NM_000152.5(GAA):c.1758G>T (p.Ala586=)
|
rs79795428
|
|
NM_000152.5(GAA):c.1764G>A (p.Val588=)
|
rs2143887715
|
|
NM_000152.5(GAA):c.1776G>A (p.Gly592=)
|
rs1317655623
|
|
NM_000152.5(GAA):c.1776G>C (p.Gly592=)
|
rs1317655623
|
|
NM_000152.5(GAA):c.1782C>A (p.Arg594=)
|
|
|
NM_000152.5(GAA):c.1782C>T (p.Arg594=)
|
|
|
NM_000152.5(GAA):c.1791G>C (p.Val597=)
|
rs2039262436
|
|
NM_000152.5(GAA):c.1797C>T (p.Ser599=)
|
rs761377657
|
|
NM_000152.5(GAA):c.1800C>T (p.Arg600=)
|
rs1598584611
|
|
NM_000152.5(GAA):c.1803G>T (p.Ser601=)
|
rs368993048
|
|
NM_000152.5(GAA):c.1806C>A (p.Thr602=)
|
rs1598584645
|
|
NM_000152.5(GAA):c.180C>G (p.Ala60=)
|
rs2039031609
|
|
NM_000152.5(GAA):c.1830C>A (p.Ala610=)
|
|
|
NM_000152.5(GAA):c.1833C>T (p.Gly611=)
|
|
|
NM_000152.5(GAA):c.1842G>C (p.Thr614=)
|
rs373955374
|
|
NM_000152.5(GAA):c.1845G>A (p.Gly615=)
|
|
|
NM_000152.5(GAA):c.1851G>A (p.Val617=)
|
rs886042906
|
|
NM_000152.5(GAA):c.1878C>T (p.Ser626=)
|
rs2143889719
|
|
NM_000152.5(GAA):c.1888+10T>C
|
|
|
NM_000152.5(GAA):c.1888+12C>A
|
|
|
NM_000152.5(GAA):c.1888+15G>A
|
|
|
NM_000152.5(GAA):c.1888+18G>A
|
rs1452309871
|
|
NM_000152.5(GAA):c.1888+18G>C
|
|
|
NM_000152.5(GAA):c.1888+20G>C
|
|
|
NM_000152.5(GAA):c.1889-12_1889-11del
|
rs777483558
|
|
NM_000152.5(GAA):c.1889-13T>C
|
|
|
NM_000152.5(GAA):c.1889-15A>T
|
|
|
NM_000152.5(GAA):c.1889-18C>G
|
|
|
NM_000152.5(GAA):c.1889-20G>A
|
|
|
NM_000152.5(GAA):c.1889-4C>T
|
|
|
NM_000152.5(GAA):c.1889-5C>T
|
rs794727115
|
|
NM_000152.5(GAA):c.1889-7C>T
|
|
|
NM_000152.5(GAA):c.1893C>T (p.Ile631=)
|
rs1598585395
|
|
NM_000152.5(GAA):c.1896G>T (p.Leu632=)
|
|
|
NM_000152.5(GAA):c.189A>C (p.Pro63=)
|
|
|
NM_000152.5(GAA):c.18G>A (p.Pro6=)
|
rs774703637
|
|
NM_000152.5(GAA):c.1902T>C (p.Phe634=)
|
|
|
NM_000152.5(GAA):c.1905C>T (p.Asn635=)
|
rs1414146587
|
|
NM_000152.5(GAA):c.1906C>T (p.Leu636=)
|
rs1296740179
|
|
NM_000152.5(GAA):c.1908G>C (p.Leu636=)
|
|
|
NM_000152.5(GAA):c.1911G>A (p.Leu637=)
|
|
|
NM_000152.5(GAA):c.1914G>A (p.Gly638=)
|
rs1305357140
|
|
NM_000152.5(GAA):c.1926C>G (p.Val642=)
|
rs1346499760
|
|
NM_000152.5(GAA):c.1935C>T (p.Asp645=)
|
rs28940868
|
|
NM_000152.5(GAA):c.1941C>T (p.Cys647=)
|
rs776948121
|
|
NM_000152.5(GAA):c.1947C>T (p.Phe649=)
|
rs770248553
|
|
NM_000152.5(GAA):c.1948C>T (p.Leu650=)
|
|
|
NM_000152.5(GAA):c.1950G>C (p.Leu650=)
|
|
|
NM_000152.5(GAA):c.1953C>T (p.Gly651=)
|
|
|
NM_000152.5(GAA):c.1956C>T (p.Asn652=)
|
|
|
NM_000152.5(GAA):c.1962A>G (p.Ser654=)
|
rs2143892394
|
|
NM_000152.5(GAA):c.1971G>A (p.Leu657=)
|
|
|
NM_000152.5(GAA):c.1986C>T (p.Thr662=)
|
rs2039278843
|
|
NM_000152.5(GAA):c.1989G>A (p.Gln663=)
|
rs1189531783
|
|
NM_000152.5(GAA):c.198G>A (p.Arg66=)
|
rs2143825886
|
|
NM_000152.5(GAA):c.2001C>T (p.Phe667=)
|
|
|
NM_000152.5(GAA):c.2004C>T (p.Tyr668=)
|
|
|
NM_000152.5(GAA):c.2007C>T (p.Pro669=)
|
|
|
NM_000152.5(GAA):c.2016G>A (p.Arg672=)
|
|
|
NM_000152.5(GAA):c.2019C>T (p.Asn673=)
|
|
|
NM_000152.5(GAA):c.2022C>T (p.His674=)
|
|
|
NM_000152.5(GAA):c.2028C>T (p.Ser676=)
|
rs1209690340
|
|
NM_000152.5(GAA):c.2029C>T (p.Leu677=)
|
rs1272817506
|
|
NM_000152.5(GAA):c.2040+11_2040+18dup
|
rs745338070
|
|
NM_000152.5(GAA):c.2040+13T>C
|
|
|
NM_000152.5(GAA):c.2040+14G>A
|
|
|
NM_000152.5(GAA):c.2040+15G>A
|
|
|
NM_000152.5(GAA):c.2040+18G>A
|
|
|
NM_000152.5(GAA):c.2040+18G>T
|
|
|
NM_000152.5(GAA):c.2040+8G>C
|
rs779647712
|
|
NM_000152.5(GAA):c.2040+8G>T
|
rs779647712
|
|
NM_000152.5(GAA):c.2040+9G>A
|
|
|
NM_000152.5(GAA):c.2040+9G>C
|
|
|
NM_000152.5(GAA):c.2041-15C>G
|
|
|
NM_000152.5(GAA):c.2041-17C>A
|
rs746028622
|
|
NM_000152.5(GAA):c.2041-20T>C
|
|
|
NM_000152.5(GAA):c.2041-4G>A
|
rs775757700
|
|
NM_000152.5(GAA):c.2041-9G>A
|
rs912717099
|
|
NM_000152.5(GAA):c.2041-9G>T
|
|
|
NM_000152.5(GAA):c.2043C>A (p.Pro681=)
|
rs764174168
|
|
NM_000152.5(GAA):c.2043C>G (p.Pro681=)
|
|
|
NM_000152.5(GAA):c.2043C>T (p.Pro681=)
|
rs764174168
|
|
NM_000152.5(GAA):c.2049G>A (p.Glu683=)
|
|
|
NM_000152.5(GAA):c.204C>T (p.Ala68=)
|
rs2143825931
|
|
NM_000152.5(GAA):c.2052G>T (p.Pro684=)
|
rs546463058
|
|
NM_000152.5(GAA):c.2055C>T (p.Tyr685=)
|
rs750214208
|
|
NM_000152.5(GAA):c.2064C>T (p.Ser688=)
|
rs140996643
|
|
NM_000152.5(GAA):c.2070G>C (p.Pro690=)
|
|
|
NM_000152.5(GAA):c.207G>A (p.Gln69=)
|
rs2039032628
|
|
NM_000152.5(GAA):c.2082C>T (p.Ala694=)
|
|
|
NM_000152.5(GAA):c.2088G>A (p.Arg696=)
|
rs2143895840
|
|
NM_000152.5(GAA):c.2091G>A (p.Lys697=)
|
rs2143895855
|
|
NM_000152.5(GAA):c.2100C>A (p.Thr700=)
|
|
|
NM_000152.5(GAA):c.2100C>T (p.Thr700=)
|
rs199571088
|
|
NM_000152.5(GAA):c.2112A>C (p.Ala704=)
|
rs1449566083
|
|
NM_000152.5(GAA):c.2112A>G (p.Ala704=)
|
rs1449566083
|
|
NM_000152.5(GAA):c.2115C>G (p.Leu705=)
|
|
|
NM_000152.5(GAA):c.2115C>T (p.Leu705=)
|
rs372881095
|
|
NM_000152.5(GAA):c.2118C>G (p.Leu706=)
|
rs1479318289
|
|
NM_000152.5(GAA):c.2121C>T (p.Pro707=)
|
|
|
NM_000152.5(GAA):c.2124C>T (p.His708=)
|
rs751187069
|
|
NM_000152.5(GAA):c.2134C>T (p.Leu712=)
|
rs752233229
|
|
NM_000152.5(GAA):c.213C>T (p.His71=)
|
|
|
NM_000152.5(GAA):c.2148C>A (p.Ala716=)
|
rs750907936
|
|
NM_000152.5(GAA):c.2148C>G (p.Ala716=)
|
rs750907936
|
|
NM_000152.5(GAA):c.2154C>G (p.Val718=)
|
rs1800311
|
|
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser)
|
rs143324027
|
|
NM_000152.5(GAA):c.2157G>C (p.Ala719=)
|
|
|
NM_000152.5(GAA):c.2157G>T (p.Ala719=)
|
|
|
NM_000152.5(GAA):c.2163G>A (p.Glu721=)
|
rs2143896953
|
|
NM_000152.5(GAA):c.2166C>G (p.Thr722=)
|
|
|
NM_000152.5(GAA):c.2169G>A (p.Val723=)
|
|
|
NM_000152.5(GAA):c.2172C>T (p.Ala724=)
|
rs2039292373
|
|
NM_000152.5(GAA):c.2175G>T (p.Arg725=)
|
rs2143897169
|
|
NM_000152.5(GAA):c.2178C>A (p.Pro726=)
|
rs1226457670
|
|
NM_000152.5(GAA):c.2178C>G (p.Pro726=)
|
|
|
NM_000152.5(GAA):c.2178C>T (p.Pro726=)
|
rs1226457670
|
|
NM_000152.5(GAA):c.2185C>T (p.Leu729=)
|
|
|
NM_000152.5(GAA):c.2189+10_2189+11del
|
|
|
NM_000152.5(GAA):c.2189+16del
|
|
|
NM_000152.5(GAA):c.2189+9C>G
|
rs2039293292
|
|
NM_000152.5(GAA):c.2189+9C>T
|
rs2039293292
|
|
NM_000152.5(GAA):c.2190-16C>T
|
|
|
NM_000152.5(GAA):c.2190-20T>C
|
rs1485579975
|
|
NM_000152.5(GAA):c.2190-20T>G
|
|
|
NM_000152.5(GAA):c.2190-7C>G
|
|
|
NM_000152.5(GAA):c.2190-9C>A
|
|
|
NM_000152.5(GAA):c.2193C>T (p.Phe731=)
|
|
|
NM_000152.5(GAA):c.2196C>A (p.Pro732=)
|
rs915890435
|
|
NM_000152.5(GAA):c.21C>T (p.Pro7=)
|
rs2143823837
|
|
NM_000152.5(GAA):c.2205T>C (p.Ser735=)
|
rs2143918429
|
|
NM_000152.5(GAA):c.2207G>A (p.Ser736Asn)
|
rs553430197
|
|
NM_000152.5(GAA):c.2211C>G (p.Thr737=)
|
rs2143918476
|
|
NM_000152.5(GAA):c.2211C>T (p.Thr737=)
|
rs2143918476
|
|
NM_000152.5(GAA):c.2215A>T (p.Thr739Ser)
|
rs578245757
|
|
NM_000152.5(GAA):c.2220G>A (p.Val740=)
|
|
|
NM_000152.5(GAA):c.2223C>T (p.Asp741=)
|
rs767773929
|
|
NM_000152.5(GAA):c.2226C>T (p.His742=)
|
|
|
NM_000152.5(GAA):c.2229G>A (p.Gln743=)
|
rs2143918741
|
|
NM_000152.5(GAA):c.2232C>T (p.Leu744=)
|
|
|
NM_000152.5(GAA):c.2235G>A (p.Leu745=)
|
rs1429277920
|
|
NM_000152.5(GAA):c.2235G>C (p.Leu745=)
|
rs1429277920
|
|
NM_000152.5(GAA):c.2235G>T (p.Leu745=)
|
|
|
NM_000152.5(GAA):c.2244G>A (p.Glu748=)
|
|
|
NM_000152.5(GAA):c.2247C>A (p.Ala749=)
|
|
|
NM_000152.5(GAA):c.2248C>T (p.Leu750=)
|
rs2143919200
|
|
NM_000152.5(GAA):c.2268C>T (p.Leu756=)
|
rs746873847
|
|
NM_000152.5(GAA):c.2289G>A (p.Val763=)
|
rs767871949
|
|
NM_000152.5(GAA):c.2289G>C (p.Val763=)
|
rs767871949
|
|
NM_000152.5(GAA):c.2304C>G (p.Pro768=)
|
|
|
NM_000152.5(GAA):c.2307G>A (p.Leu769=)
|
rs372800172
|
|
NM_000152.5(GAA):c.2325G>A (p.Leu775=)
|
rs2143920372
|
|
NM_000152.5(GAA):c.2331+12G>A
|
|
|
NM_000152.5(GAA):c.2331+12G>C
|
|
|
NM_000152.5(GAA):c.2331+12G>T
|
|
|
NM_000152.5(GAA):c.2331+14C>T
|
rs772727792
|
|
NM_000152.5(GAA):c.2331+17del
|
|
|
NM_000152.5(GAA):c.2331+19dup
|
|
|
NM_000152.5(GAA):c.2331+20G>T
|
|
|
NM_000152.5(GAA):c.2331+7C>G
|
|
|
NM_000152.5(GAA):c.2332-12A>G
|
|
|
NM_000152.5(GAA):c.2332-16C>T
|
rs2039383167
|
|
NM_000152.5(GAA):c.2332-5T>G
|
rs1276069832
|
|
NM_000152.5(GAA):c.2332-7C>A
|
|
|
NM_000152.5(GAA):c.2332-7C>T
|
|
|
NM_000152.5(GAA):c.2332-8C>T
|
rs2143924023
|
|
NM_000152.5(GAA):c.2332-9T>C
|
|
|
NM_000152.5(GAA):c.2337A>G (p.Pro779=)
|
rs1042838087
|
|
NM_000152.5(GAA):c.2349T>C (p.Leu783=)
|
|
|
NM_000152.5(GAA):c.2355C>T (p.Ser785=)
|
rs2143924314
|
|
NM_000152.5(GAA):c.2358C>A (p.Leu786=)
|
|
|
NM_000152.5(GAA):c.2361A>G (p.Pro787=)
|
|
|
NM_000152.5(GAA):c.2364C>T (p.Pro788=)
|
|
|
NM_000152.5(GAA):c.2367A>G (p.Pro789=)
|
rs1012503581
|
|
NM_000152.5(GAA):c.2370T>C (p.Pro790=)
|
|
|
NM_000152.5(GAA):c.237C>T (p.Pro79=)
|
|
|
NM_000152.5(GAA):c.2385G>A (p.Glu795=)
|
rs1333952509
|
|
NM_000152.5(GAA):c.2388A>G (p.Pro796=)
|
|
|
NM_000152.5(GAA):c.2391C>G (p.Ala797=)
|
|
|
NM_000152.5(GAA):c.2391C>T (p.Ala797=)
|
rs767494597
|
|
NM_000152.5(GAA):c.2403G>A (p.Glu801=)
|
rs2143924963
|
|
NM_000152.5(GAA):c.2409G>A (p.Gln803=)
|
rs778506693
|
|
NM_000152.5(GAA):c.2415G>T (p.Val805=)
|
rs150536507
|
|
NM_000152.5(GAA):c.2418G>T (p.Thr806=)
|
rs371528938
|
|
NM_000152.5(GAA):c.2427C>T (p.Ala809=)
|
rs766325117
|
|
NM_000152.5(GAA):c.2430C>G (p.Pro810=)
|
rs554839058
|
|
NM_000152.5(GAA):c.2430C>T (p.Pro810=)
|
rs554839058
|
|
NM_000152.5(GAA):c.2439C>A (p.Thr813=)
|
|
|
NM_000152.5(GAA):c.2439C>T (p.Thr813=)
|
rs2143925559
|
|
NM_000152.5(GAA):c.2442C>T (p.Ile814=)
|
|
|
NM_000152.5(GAA):c.2451C>T (p.His817=)
|
rs753382861
|
|
NM_000152.5(GAA):c.2466C>T (p.Tyr822=)
|
rs2039389205
|
|
NM_000152.5(GAA):c.2469C>T (p.Ile823=)
|
|
|
NM_000152.5(GAA):c.2472C>A (p.Ile824=)
|
|
|
NM_000152.5(GAA):c.2472C>T (p.Ile824=)
|
rs2039389492
|
|
NM_000152.5(GAA):c.2475C>T (p.Pro825=)
|
|
|
NM_000152.5(GAA):c.2481+10C>A
|
|
|
NM_000152.5(GAA):c.2481+20A>G
|
|
|
NM_000152.5(GAA):c.2481+7G>A
|
rs770240317
|
|
NM_000152.5(GAA):c.2481+8G>T
|
|
|
NM_000152.5(GAA):c.2482-12T>C
|
|
|
NM_000152.5(GAA):c.2482-16G>A
|
|
|
NM_000152.5(GAA):c.2482-17T>C
|
|
|
NM_000152.5(GAA):c.2482-5T>C
|
rs1290870969
|
|
NM_000152.5(GAA):c.2482-8C>A
|
rs1407022252
|
|
NM_000152.5(GAA):c.2482-8C>G
|
rs1407022252
|
|
NM_000152.5(GAA):c.2482-8C>T
|
rs1407022252
|
|
NM_000152.5(GAA):c.2482-9C>A
|
|
|
NM_000152.5(GAA):c.2482-9C>T
|
rs753210535
|
|
NM_000152.5(GAA):c.2496A>C (p.Thr832=)
|
|
|
NM_000152.5(GAA):c.2496A>G (p.Thr832=)
|
rs2143929451
|
|
NM_000152.5(GAA):c.24C>T (p.Cys8=)
|
|
|
NM_000152.5(GAA):c.2511C>T (p.Arg837=)
|
|
|
NM_000152.5(GAA):c.2517G>A (p.Gln839=)
|
|
|
NM_000152.5(GAA):c.2520C>T (p.Pro840=)
|
rs1054395487
|
|
NM_000152.5(GAA):c.2526C>G (p.Ala842=)
|
rs886038259
|
|
NM_000152.5(GAA):c.2529G>A (p.Leu843=)
|
rs2039403061
|
|
NM_000152.5(GAA):c.2529G>C (p.Leu843=)
|
|
|
NM_000152.5(GAA):c.252C>A (p.Val84=)
|
rs775079960
|
|
NM_000152.5(GAA):c.252C>T (p.Val84=)
|
rs775079960
|
|
NM_000152.5(GAA):c.2539C>T (p.Leu847=)
|
|
|
NM_000152.5(GAA):c.2544C>G (p.Thr848=)
|
|
|
NM_000152.5(GAA):c.2547G>A (p.Lys849=)
|
|
|
NM_000152.5(GAA):c.2550T>G (p.Gly850=)
|
rs761608706
|
|
NM_000152.5(GAA):c.2553G>C (p.Gly851=)
|
rs1042397
|
|
NM_000152.5(GAA):c.2559C>G (p.Ala853=)
|
rs2143930088
|
|
NM_000152.5(GAA):c.255C>G (p.Pro85=)
|
rs1448106804
|
|
NM_000152.5(GAA):c.2571G>A (p.Leu857=)
|
|
|
NM_000152.5(GAA):c.2583T>C (p.Asp861=)
|
|
|
NM_000152.5(GAA):c.258C>G (p.Pro86=)
|
|
|
NM_000152.5(GAA):c.2593C>T (p.Leu865=)
|
rs2143930457
|
|
NM_000152.5(GAA):c.2595G>A (p.Leu865=)
|
rs2143930470
|
|
NM_000152.5(GAA):c.2598A>G (p.Glu866=)
|
|
|
NM_000152.5(GAA):c.2604G>T (p.Leu868=)
|
rs772250523
|
|
NM_000152.5(GAA):c.2608C>A (p.Arg870=)
|
rs780321415
|
|
NM_000152.5(GAA):c.2616C>T (p.Ala872=)
|
|
|
NM_000152.5(GAA):c.2625G>A (p.Gln875=)
|
rs2039406110
|
|
NM_000152.5(GAA):c.2643G>A (p.Arg881=)
|
rs1160268139
|
|
NM_000152.5(GAA):c.2646+12G>A
|
|
|
NM_000152.5(GAA):c.2646+19C>T
|
|
|
NM_000152.5(GAA):c.2646+7C>G
|
rs2143931099
|
|
NM_000152.5(GAA):c.2646+7C>T
|
|
|
NM_000152.5(GAA):c.2646+8C>T
|
|
|
NM_000152.5(GAA):c.2646+8del
|
rs2039406901
|
|
NM_000152.5(GAA):c.2646+9T>C
|
rs1231487778
|
|
NM_000152.5(GAA):c.2647-10C>T
|
rs2143933140
|
|
NM_000152.5(GAA):c.2647-11G>C
|
rs2039413131
|
|
NM_000152.5(GAA):c.2647-12T>C
|
|
|
NM_000152.5(GAA):c.2647-12dup
|
|
|
NM_000152.5(GAA):c.2647-14T>A
|
|
|
NM_000152.5(GAA):c.2647-15C>G
|
rs1567840763
|
|
NM_000152.5(GAA):c.2647-17C>G
|
|
|
NM_000152.5(GAA):c.2647-23del
|
rs749000061
|
|
NM_000152.5(GAA):c.2647-25_2647-18del
|
|
|
NM_000152.5(GAA):c.2647-4C>T
|
|
|
NM_000152.5(GAA):c.2647-6G>A
|
rs201525743
|
|
NM_000152.5(GAA):c.2647-7G>C
|
|
|
NM_000152.5(GAA):c.2647-7G>T
|
|
|
NM_000152.5(GAA):c.2647-8C>G
|
rs139201641
|
|
NM_000152.5(GAA):c.2652G>C (p.Thr884=)
|
|
|
NM_000152.5(GAA):c.2652G>T (p.Thr884=)
|
|
|
NM_000152.5(GAA):c.2655C>A (p.Ile885=)
|
rs774840779
|
|
NM_000152.5(GAA):c.2658G>T (p.Val886=)
|
|
|
NM_000152.5(GAA):c.2665C>T (p.Leu889=)
|
rs750939444
|
|
NM_000152.5(GAA):c.2676G>A (p.Val892=)
|
|
|
NM_000152.5(GAA):c.267C>T (p.Arg89=)
|
rs2039036067
|
|
NM_000152.5(GAA):c.2695C>T (p.Leu899=)
|
|
|
NM_000152.5(GAA):c.2697G>T (p.Leu899=)
|
rs2143933626
|
|
NM_000152.5(GAA):c.2703G>A (p.Leu901=)
|
rs2143933710
|
|
NM_000152.5(GAA):c.2706G>A (p.Gln902=)
|
rs2039415234
|
|
NM_000152.5(GAA):c.2718C>T (p.Val906=)
|
|
|
NM_000152.5(GAA):c.2721G>A (p.Leu907=)
|
rs2143933909
|
|
NM_000152.5(GAA):c.2730C>A (p.Ala910=)
|
rs2143934007
|
|
NM_000152.5(GAA):c.2733G>A (p.Thr911=)
|
|
|
NM_000152.5(GAA):c.2736G>T (p.Ala912=)
|
|
|
NM_000152.5(GAA):c.2739C>T (p.Pro913=)
|
rs370765733
|
|
NM_000152.5(GAA):c.2751C>G (p.Leu917=)
|
|
|
NM_000152.5(GAA):c.2754C>A (p.Ser918=)
|
rs1598594382
|
|
NM_000152.5(GAA):c.2760T>C (p.Gly920=)
|
|
|
NM_000152.5(GAA):c.2766T>C (p.Pro922=)
|
rs2143934535
|
|
NM_000152.5(GAA):c.2769C>A (p.Val923=)
|
rs1272166322
|
|
NM_000152.5(GAA):c.2769C>T (p.Val923=)
|
rs1272166322
|
|
NM_000152.5(GAA):c.2772C>G (p.Ser924=)
|
|
|
NM_000152.5(GAA):c.2772C>T (p.Ser924=)
|
rs2039417635
|
|
NM_000152.5(GAA):c.2778C>T (p.Phe926=)
|
|
|
NM_000152.5(GAA):c.2784C>T (p.Tyr928=)
|
|
|
NM_000152.5(GAA):c.2790C>T (p.Pro930=)
|
rs2039418269
|
|
NM_000152.5(GAA):c.2793C>T (p.Asp931=)
|
rs1439341909
|
|
NM_000152.5(GAA):c.2796C>T (p.Thr932=)
|
rs2143934830
|
|
NM_000152.5(GAA):c.2799+10C>G
|
rs1482012226
|
|
NM_000152.5(GAA):c.2799+10C>T
|
rs1482012226
|
|
NM_000152.5(GAA):c.2799+12C>T
|
|
|
NM_000152.5(GAA):c.2799+13A>C
|
|
|
NM_000152.5(GAA):c.2799+15A>C
|
|
|
NM_000152.5(GAA):c.2799+15A>G
|
|
|
NM_000152.5(GAA):c.2799+16G>A
|
|
|
NM_000152.5(GAA):c.2799+17T>C
|
|
|
NM_000152.5(GAA):c.2799+18G>A
|
rs779034370
|
|
NM_000152.5(GAA):c.2799+18G>T
|
|
|
NM_000152.5(GAA):c.2800-10T>C
|
rs2143938123
|
|
NM_000152.5(GAA):c.2800-11C>T
|
|
|
NM_000152.5(GAA):c.2800-13del
|
|
|
NM_000152.5(GAA):c.2800-15CT[3]
|
rs770227589
|
|
NM_000152.5(GAA):c.2800-16G>A
|
|
|
NM_000152.5(GAA):c.2800-20T>A
|
|
|
NM_000152.5(GAA):c.2800-6T>C
|
rs2143938183
|
|
NM_000152.5(GAA):c.2800-9C>G
|
rs886053547
|
|
NM_000152.5(GAA):c.2800-9C>T
|
|
|
NM_000152.5(GAA):c.2817C>T (p.Val939=)
|
rs2143938445
|
|
NM_000152.5(GAA):c.2820G>C (p.Ser940=)
|
|
|
NM_000152.5(GAA):c.2821C>T (p.Leu941=)
|
|
|
NM_000152.5(GAA):c.2823G>A (p.Leu941=)
|
|
|
NM_000152.5(GAA):c.2824T>C (p.Leu942=)
|
rs780885711
|
|
NM_000152.5(GAA):c.2826G>A (p.Leu942=)
|
rs866970316
|
|
NM_000152.5(GAA):c.282T>C (p.Pro94=)
|
|
|
NM_000152.5(GAA):c.2850C>T (p.Ser950=)
|
|
|
NM_000152.5(GAA):c.2859G>A (p.Ter953=)
|
|
|
NM_000152.5(GAA):c.297C>G (p.Thr99=)
|
rs771846178
|
|
NM_000152.5(GAA):c.300G>A (p.Gln100=)
|
rs2143827134
|
|
NM_000152.5(GAA):c.303A>G (p.Glu101=)
|
rs2143827161
|
|
NM_000152.5(GAA):c.30C>T (p.His10=)
|
|
|
NM_000152.5(GAA):c.318C>A (p.Arg106=)
|
|
|
NM_000152.5(GAA):c.330C>T (p.Tyr110=)
|
|
|
NM_000152.5(GAA):c.333C>T (p.Ile111=)
|
|
|
NM_000152.5(GAA):c.348G>T (p.Gly116=)
|
rs2143827789
|
|
NM_000152.5(GAA):c.354G>A (p.Gln118=)
|
|
|
NM_000152.5(GAA):c.357A>C (p.Gly119=)
|
|
|
NM_000152.5(GAA):c.381C>T (p.Cys127=)
|
|
|
NM_000152.5(GAA):c.393C>G (p.Pro131=)
|
rs769276948
|
|
NM_000152.5(GAA):c.399C>T (p.Tyr133=)
|
|
|
NM_000152.5(GAA):c.411G>A (p.Lys137=)
|
|
|
NM_000152.5(GAA):c.414G>A (p.Leu138=)
|
|
|
NM_000152.5(GAA):c.423G>A (p.Leu141=)
|
|
|
NM_000152.5(GAA):c.423G>T (p.Leu141=)
|
rs2143828533
|
|
NM_000152.5(GAA):c.42C>T (p.Ala14=)
|
rs141377453
|
|
NM_000152.5(GAA):c.456G>C (p.Leu152=)
|
rs1477781307
|
|
NM_000152.5(GAA):c.468C>G (p.Thr156=)
|
rs145849611
|
|
NM_000152.5(GAA):c.480C>T (p.Phe160=)
|
|
|
NM_000152.5(GAA):c.498C>T (p.Thr166=)
|
|
|
NM_000152.5(GAA):c.499C>T (p.Leu167=)
|
|
|
NM_000152.5(GAA):c.501G>A (p.Leu167=)
|
rs1276415397
|
|
NM_000152.5(GAA):c.501_502delinsAA (p.Leu167_Arg168=)
|
rs2143829361
|
|
NM_000152.5(GAA):c.502C>A (p.Arg168=)
|
|
|
NM_000152.5(GAA):c.504G>T (p.Arg168=)
|
|
|
NM_000152.5(GAA):c.513G>C (p.Val171=)
|
|
|
NM_000152.5(GAA):c.522G>A (p.Glu174=)
|
|
|
NM_000152.5(GAA):c.525T>C (p.Thr175=)
|
rs2039047153
|
|
NM_000152.5(GAA):c.531C>T (p.Asn177=)
|
rs886053544
|
|
NM_000152.5(GAA):c.534C>G (p.Arg178=)
|
rs765613378
|
|
NM_000152.5(GAA):c.543C>T (p.Phe181=)
|
rs1567826499
|
|
NM_000152.5(GAA):c.546+10G>A
|
|
|
NM_000152.5(GAA):c.546+12_546+17del
|
rs1567826548
|
|
NM_000152.5(GAA):c.546+12_546+17dup
|
|
|
NM_000152.5(GAA):c.546+13GGGGCG[3]
|
|
|
NM_000152.5(GAA):c.546+16G>A
|
|
|
NM_000152.5(GAA):c.546+16G>C
|
rs1043184942
|
|
NM_000152.5(GAA):c.546+16G>T
|
|
|
NM_000152.5(GAA):c.546+20G>A
|
|
|
NM_000152.5(GAA):c.546+20_546+25del
|
|
|
NM_000152.5(GAA):c.546+3GGGCA[3]
|
|
|
NM_000152.5(GAA):c.546+7A>G
|
rs1329049814
|
|
NM_000152.5(GAA):c.546+7_546+12del
|
|
|
NM_000152.5(GAA):c.546+8G>A
|
rs200107080
|
|
NM_000152.5(GAA):c.546+9G>A
|
rs2143829950
|
|
NM_000152.5(GAA):c.547-15C>T
|
|
|
NM_000152.5(GAA):c.547-16C>G
|
|
|
NM_000152.5(GAA):c.547-4C>A
|
rs3816256
|
|
NM_000152.5(GAA):c.547-9C>T
|
rs746507322
|
|
NM_000152.5(GAA):c.54C>G (p.Leu18=)
|
rs886053542
|
|
NM_000152.5(GAA):c.552A>G (p.Lys184=)
|
|
|
NM_000152.5(GAA):c.561T>A (p.Ala187=)
|
|
|
NM_000152.5(GAA):c.564C>T (p.Asn188=)
|
rs2039068461
|
|
NM_000152.5(GAA):c.567G>A (p.Arg189=)
|
|
|
NM_000152.5(GAA):c.573C>T (p.Tyr191=)
|
rs376229714
|
|
NM_000152.5(GAA):c.579G>A (p.Val193=)
|
rs764299738
|
|
NM_000152.5(GAA):c.583T>C (p.Leu195=)
|
rs1323831512
|
|
NM_000152.5(GAA):c.594G>C (p.Pro198=)
|
rs1426823689
|
|
NM_000152.5(GAA):c.594G>T (p.Pro198=)
|
rs1426823689
|
|
NM_000152.5(GAA):c.609G>T (p.Arg203=)
|
|
|
NM_000152.5(GAA):c.612A>G (p.Ala204=)
|
|
|
NM_000152.5(GAA):c.618C>A (p.Ser206=)
|
rs146292898
|
|
NM_000152.5(GAA):c.618C>G (p.Ser206=)
|
rs146292898
|
|
NM_000152.5(GAA):c.621A>C (p.Pro207=)
|
|
|
NM_000152.5(GAA):c.624C>G (p.Leu208=)
|
rs2143834295
|
|
NM_000152.5(GAA):c.627C>T (p.Tyr209=)
|
rs1460607546
|
|
NM_000152.5(GAA):c.633G>A (p.Val211=)
|
rs2143834416
|
|
NM_000152.5(GAA):c.639C>T (p.Phe213=)
|
rs2143834450
|
|
NM_000152.5(GAA):c.642C>A (p.Ser214=)
|
rs1800301
|
|
NM_000152.5(GAA):c.651C>A (p.Pro217=)
|
rs2039072589
|
|
NM_000152.5(GAA):c.657G>A (p.Gly219=)
|
rs2039072905
|
|
NM_000152.5(GAA):c.663C>A (p.Ile221=)
|
rs142878958
|
|
NM_000152.5(GAA):c.666G>A (p.Val222=)
|
|
|
NM_000152.5(GAA):c.678G>T (p.Leu226=)
|
|
|
NM_000152.5(GAA):c.684C>T (p.Gly228=)
|
|
|
NM_000152.5(GAA):c.688G>A (p.Val230Met)
|
rs145866792
|
|
NM_000152.5(GAA):c.692+11G>C
|
|
|
NM_000152.5(GAA):c.692+12G>A
|
rs1326313088
|
|
NM_000152.5(GAA):c.692+12G>T
|
rs1326313088
|
|
NM_000152.5(GAA):c.692+17G>A
|
|
|
NM_000152.5(GAA):c.692+20C>T
|
|
|
NM_000152.5(GAA):c.692+8C>G
|
|
|
NM_000152.5(GAA):c.693-10T>C
|
rs2143845612
|
|
NM_000152.5(GAA):c.693-11C>G
|
|
|
NM_000152.5(GAA):c.693-13C>T
|
rs760379754
|
|
NM_000152.5(GAA):c.693-14C>T
|
|
|
NM_000152.5(GAA):c.693-15G>A
|
|
|
NM_000152.5(GAA):c.693-19G>C
|
rs1271276827
|
|
NM_000152.5(GAA):c.693-19G>T
|
|
|
NM_000152.5(GAA):c.693-20G>A
|
|
|
NM_000152.5(GAA):c.693-4G>A
|
rs200088236
|
|
NM_000152.5(GAA):c.693-5del
|
rs1555599563
|
|
NM_000152.5(GAA):c.693-6C>G
|
|
|
NM_000152.5(GAA):c.693-6C>T
|
rs2143845646
|
|
NM_000152.5(GAA):c.693-7C>T
|
|
|
NM_000152.5(GAA):c.693-9G>C
|
|
|
NM_000152.5(GAA):c.69C>A (p.Thr23=)
|
rs746351336
|
|
NM_000152.5(GAA):c.708G>A (p.Val236=)
|
rs1308198041
|
|
NM_000152.5(GAA):c.708G>T (p.Val236=)
|
rs1308198041
|
|
NM_000152.5(GAA):c.711G>C (p.Ala237=)
|
|
|
NM_000152.5(GAA):c.714C>A (p.Pro238=)
|
|
|
NM_000152.5(GAA):c.717G>T (p.Leu239=)
|
|
|
NM_000152.5(GAA):c.723T>C (p.Phe241=)
|
|
|
NM_000152.5(GAA):c.726G>C (p.Ala242=)
|
rs148578399
|
|
NM_000152.5(GAA):c.729C>T (p.Asp243=)
|
|
|
NM_000152.5(GAA):c.735C>T (p.Phe245=)
|
rs1264222457
|
|
NM_000152.5(GAA):c.741G>A (p.Gln247=)
|
|
|
NM_000152.5(GAA):c.742C>T (p.Leu248=)
|
|
|
NM_000152.5(GAA):c.747C>G (p.Ser249=)
|
|
|
NM_000152.5(GAA):c.747C>T (p.Ser249=)
|
rs1555599614
|
|
NM_000152.5(GAA):c.750C>T (p.Thr250=)
|
rs2143846283
|
|
NM_000152.5(GAA):c.753G>A (p.Ser251=)
|
rs761363283
|
|
NM_000152.5(GAA):c.753G>T (p.Ser251=)
|
rs761363283
|
|
NM_000152.5(GAA):c.754C>T (p.Leu252=)
|
rs1598575013
|
|
NM_000152.5(GAA):c.756G>A (p.Leu252=)
|
|
|
NM_000152.5(GAA):c.759C>T (p.Pro253=)
|
rs1352216789
|
|
NM_000152.5(GAA):c.75A>C (p.Ala25=)
|
rs1366159150
|
|
NM_000152.5(GAA):c.75A>G (p.Ala25=)
|
rs1366159150
|
|
NM_000152.5(GAA):c.75A>T (p.Ala25=)
|
|
|
NM_000152.5(GAA):c.765G>A (p.Gln255=)
|
rs1450999199
|
|
NM_000152.5(GAA):c.774A>C (p.Thr258=)
|
rs753112231
|
|
NM_000152.5(GAA):c.774A>G (p.Thr258=)
|
rs753112231
|
|
NM_000152.5(GAA):c.777C>G (p.Gly259=)
|
|
|
NM_000152.5(GAA):c.777C>T (p.Gly259=)
|
|
|
NM_000152.5(GAA):c.783C>A (p.Ala261=)
|
rs757356178
|
|
NM_000152.5(GAA):c.786G>A (p.Glu262=)
|
|
|
NM_000152.5(GAA):c.789C>T (p.His263=)
|
rs1336545018
|
|
NM_000152.5(GAA):c.78C>T (p.Leu26=)
|
rs2143824668
|
|
NM_000152.5(GAA):c.792C>G (p.Leu264=)
|
rs2143846838
|
|
NM_000152.5(GAA):c.792C>T (p.Leu264=)
|
|
|
NM_000152.5(GAA):c.79C>T (p.Leu27=)
|
rs538605208
|
|
NM_000152.5(GAA):c.807C>G (p.Leu269=)
|
|
|
NM_000152.5(GAA):c.816C>T (p.Ser272=)
|
rs1405999158
|
|
NM_000152.5(GAA):c.822C>T (p.Thr274=)
|
|
|
NM_000152.5(GAA):c.841C>A (p.Arg281=)
|
|
|
NM_000152.5(GAA):c.846C>T (p.Asp282=)
|
rs1008936778
|
|
NM_000152.5(GAA):c.849T>C (p.Leu283=)
|
rs2143847519
|
|
NM_000152.5(GAA):c.84G>A (p.Gly28=)
|
rs769733901
|
|
NM_000152.5(GAA):c.84G>C (p.Gly28=)
|
|
|
NM_000152.5(GAA):c.858+10C>A
|
rs758283022
|
|
NM_000152.5(GAA):c.858+10C>T
|
rs758283022
|
|
NM_000152.5(GAA):c.858+11G>A
|
rs1464849313
|
|
NM_000152.5(GAA):c.858+12G>C
|
|
|
NM_000152.5(GAA):c.858+19G>T
|
|
|
NM_000152.5(GAA):c.858+20G>T
|
|
|
NM_000152.5(GAA):c.858+5_858+11dup
|
rs2039124972
|
|
NM_000152.5(GAA):c.858+6GCGGCGG[3]
|
rs1555599723
|
|
NM_000152.5(GAA):c.858+7_858+8insACCGGGC
|
rs3071247
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCAGGC
|
rs3071247
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCAGCGGGC
|
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGC
|
rs3071247
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGCAGCGGGC
|
rs3071247
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGCGGCGGGC
|
rs3071247
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGT
|
|
|
NM_000152.5(GAA):c.858+7_858+8insAGTGGGC
|
rs3071247
|
|
NM_000152.5(GAA):c.858+9G>A
|
|
|
NM_000152.5(GAA):c.859-14C>G
|
|
|
NM_000152.5(GAA):c.859-14C>T
|
|
|
NM_000152.5(GAA):c.859-16C>A
|
|
|
NM_000152.5(GAA):c.859-18G>C
|
|
|
NM_000152.5(GAA):c.859-20C>T
|
|
|
NM_000152.5(GAA):c.859-4C>G
|
|
|
NM_000152.5(GAA):c.859-4C>T
|
rs749017942
|
|
NM_000152.5(GAA):c.859-5C>T
|
rs2143848848
|
|
NM_000152.5(GAA):c.859-7G>A
|
|
|
NM_000152.5(GAA):c.859-9A>G
|
rs888669731
|
|
NM_000152.5(GAA):c.861C>G (p.Pro287=)
|
|
|
NM_000152.5(GAA):c.867G>T (p.Ala289=)
|
rs534515557
|
|
NM_000152.5(GAA):c.870C>T (p.Asn290=)
|
|
|
NM_000152.5(GAA):c.873C>T (p.Leu291=)
|
rs1598575713
|
|
NM_000152.5(GAA):c.879G>A (p.Gly293=)
|
rs2143849260
|
|
NM_000152.5(GAA):c.87C>T (p.His29=)
|
|
|
NM_000152.5(GAA):c.894C>T (p.Tyr298=)
|
|
|
NM_000152.5(GAA):c.897G>C (p.Leu299=)
|
|
|
NM_000152.5(GAA):c.900G>C (p.Ala300=)
|
|
|
NM_000152.5(GAA):c.900G>T (p.Ala300=)
|
rs759425304
|
|
NM_000152.5(GAA):c.915G>T (p.Gly305=)
|
|
|
NM_000152.5(GAA):c.91C>T (p.Leu31=)
|
rs1295278849
|
|
NM_000152.5(GAA):c.921A>C (p.Ala307=)
|
rs1800303
|
|
NM_000152.5(GAA):c.927G>T (p.Gly309=)
|
rs886043779
|
|
NM_000152.5(GAA):c.930G>A (p.Val310=)
|
rs2143849884
|
|
NM_000152.5(GAA):c.934C>T (p.Leu312=)
|
|
|
NM_000152.5(GAA):c.936G>A (p.Leu312=)
|
rs1456154347
|
|
NM_000152.5(GAA):c.942C>T (p.Asn314=)
|
rs2143850004
|
|
NM_000152.5(GAA):c.955+10C>A
|
rs2143850207
|
|
NM_000152.5(GAA):c.955+11C>G
|
|
|
NM_000152.5(GAA):c.955+11C>T
|
|
|
NM_000152.5(GAA):c.955+12_955+18del
|
|
|
NM_000152.5(GAA):c.955+13C>T
|
|
|
NM_000152.5(GAA):c.955+14C>T
|
rs756921041
|
|
NM_000152.5(GAA):c.955+17C>T
|
rs2143850296
|
|
NM_000152.5(GAA):c.955+18C>T
|
|
|
NM_000152.5(GAA):c.955+19A>G
|
|
|
NM_000152.5(GAA):c.955+20G>C
|
|
|
NM_000152.5(GAA):c.955+43G>C
|
|
|
NM_000152.5(GAA):c.955+9C>T
|
|
|
NM_000152.5(GAA):c.956-11T>C
|
rs2143852431
|
|
NM_000152.5(GAA):c.956-13G>T
|
|
|
NM_000152.5(GAA):c.956-17A>T
|
rs2039141211
|
|
NM_000152.5(GAA):c.956-4C>T
|
rs2143852512
|
|
NM_000152.5(GAA):c.956-7C>G
|
|
|
NM_000152.5(GAA):c.956-8C>T
|
rs369149976
|
|
NM_000152.5(GAA):c.966G>A (p.Leu322=)
|
rs1197362128
|
|
NM_000152.5(GAA):c.96C>G (p.Leu32=)
|
rs1598569164
|
|
NM_000152.5(GAA):c.972G>C (p.Pro324=)
|
rs763445243
|
|
NM_000152.5(GAA):c.996G>T (p.Ser332=)
|
rs779266179
|
|
NM_000152.5(GAA):c.999A>G (p.Thr333=)
|
rs1598576668
|
|
NM_000154.2(GALK1):c.1011G>C (p.Gly337=)
|
rs764915515
|
|
NM_000154.2(GALK1):c.1026C>T (p.Arg342=)
|
|
|
NM_000154.2(GALK1):c.102G>A (p.Ala34=)
|
|
|
NM_000154.2(GALK1):c.1092C>G (p.Ala364=)
|
|
|
NM_000154.2(GALK1):c.1096C>A (p.Arg366=)
|
|
|
NM_000154.2(GALK1):c.10T>C (p.Leu4=)
|
rs2143608703
|
|
NM_000154.2(GALK1):c.1107+12C>T
|
|
|
NM_000154.2(GALK1):c.1107+18C>T
|
|
|
NM_000154.2(GALK1):c.1108-11G>A
|
|
|
NM_000154.2(GALK1):c.1108-15G>A
|
|
|
NM_000154.2(GALK1):c.1108-17C>A
|
|
|
NM_000154.2(GALK1):c.1108-17C>T
|
|
|
NM_000154.2(GALK1):c.1108-18C>G
|
|
|
NM_000154.2(GALK1):c.1108-19C>T
|
|
|
NM_000154.2(GALK1):c.1108-20C>T
|
rs755750574
|
|
NM_000154.2(GALK1):c.1113C>T (p.His371=)
|
|
|
NM_000154.2(GALK1):c.1122G>C (p.Gly374=)
|
|
|
NM_000154.2(GALK1):c.1131C>T (p.Thr377=)
|
rs1359178236
|
|
NM_000154.2(GALK1):c.1140C>G (p.Leu380=)
|
|
|
NM_000154.2(GALK1):c.1140C>T (p.Leu380=)
|
rs1244261337
|
|
NM_000154.2(GALK1):c.114C>T (p.Val38=)
|
|
|
NM_000154.2(GALK1):c.1161C>T (p.Ala387=)
|
|
|
NM_000154.2(GALK1):c.1168C>T (p.Leu390=)
|
|
|
NM_000154.2(GALK1):c.1176G>A (p.Leu392=)
|
|
|
NM_000154.2(GALK1):c.117C>T (p.Asn39=)
|
rs1599336904
|
|
NM_000154.2(GALK1):c.123C>A (p.Ile41=)
|
|
|
NM_000154.2(GALK1):c.135G>A (p.Thr45=)
|
|
|
NM_000154.2(GALK1):c.138C>T (p.Asp46=)
|
|
|
NM_000154.2(GALK1):c.141C>T (p.Tyr47=)
|
|
|
NM_000154.2(GALK1):c.144C>T (p.Asn48=)
|
rs746381829
|
|
NM_000154.2(GALK1):c.147G>A (p.Gln49=)
|
rs1438305118
|
|
NM_000154.2(GALK1):c.150C>T (p.Gly50=)
|
rs1599336859
|
|
NM_000154.2(GALK1):c.153G>A (p.Leu51=)
|
|
|
NM_000154.2(GALK1):c.157C>T (p.Leu53=)
|
rs1325878350
|
|
NM_000154.2(GALK1):c.162T>G (p.Pro54=)
|
|
|
NM_000154.2(GALK1):c.165+11G>C
|
|
|
NM_000154.2(GALK1):c.165+13A>T
|
|
|
NM_000154.2(GALK1):c.165+14C>A
|
|
|
NM_000154.2(GALK1):c.165+15G>A
|
|
|
NM_000154.2(GALK1):c.165+20G>T
|
|
|
NM_000154.2(GALK1):c.166-10C>T
|
rs768552200
|
|
NM_000154.2(GALK1):c.166-12C>G
|
|
|
NM_000154.2(GALK1):c.166-18_166-3dup
|
rs2143605592
|
|
NM_000154.2(GALK1):c.166-5_166-4delinsAT
|
rs2143605594
|
|
NM_000154.2(GALK1):c.166-6T>C
|
|
|
NM_000154.2(GALK1):c.166-6dup
|
rs2143605607
|
|
NM_000154.2(GALK1):c.166-7C>A
|
|
|
NM_000154.2(GALK1):c.166-8C>A
|
|
|
NM_000154.2(GALK1):c.166-9T>C
|
rs2143605624
|
|
NM_000154.2(GALK1):c.171G>C (p.Leu57=)
|
|
|
NM_000154.2(GALK1):c.177C>T (p.Leu59=)
|
|
|
NM_000154.2(GALK1):c.183G>C (p.Thr61=)
|
|
|
NM_000154.2(GALK1):c.187C>T (p.Leu63=)
|
rs1555748724
|
|
NM_000154.2(GALK1):c.18G>A (p.Gln6=)
|
|
|
NM_000154.2(GALK1):c.195C>T (p.Gly65=)
|
rs1301639431
|
|
NM_000154.2(GALK1):c.204C>G (p.Arg68=)
|
|
|
NM_000154.2(GALK1):c.204C>T (p.Arg68=)
|
|
|
NM_000154.2(GALK1):c.207G>A (p.Lys69=)
|
|
|
NM_000154.2(GALK1):c.21C>A (p.Pro7=)
|
|
|
NM_000154.2(GALK1):c.231C>A (p.Thr77=)
|
rs2143605334
|
|
NM_000154.2(GALK1):c.234C>T (p.Thr78=)
|
|
|
NM_000154.2(GALK1):c.246C>T (p.Ala82=)
|
rs746991487
|
|
NM_000154.2(GALK1):c.255C>T (p.Pro85=)
|
rs2143605234
|
|
NM_000154.2(GALK1):c.261G>A (p.Arg87=)
|
rs2143605202
|
|
NM_000154.2(GALK1):c.264G>A (p.Leu88=)
|
|
|
NM_000154.2(GALK1):c.276G>A (p.Leu92=)
|
|
|
NM_000154.2(GALK1):c.279C>G (p.Pro93=)
|
rs749735019
|
|
NM_000154.2(GALK1):c.294G>A (p.Ser98=)
|
|
|
NM_000154.2(GALK1):c.294G>C (p.Ser98=)
|
|
|
NM_000154.2(GALK1):c.295C>T (p.Leu99=)
|
|
|
NM_000154.2(GALK1):c.297G>A (p.Leu99=)
|
rs1568395582
|
|
NM_000154.2(GALK1):c.30G>C (p.Ala10=)
|
rs1174194549
|
|
NM_000154.2(GALK1):c.324C>T (p.Asn108=)
|
rs2143604949
|
|
NM_000154.2(GALK1):c.336A>G (p.Gly112=)
|
rs2061598790
|
|
NM_000154.2(GALK1):c.336A>T (p.Gly112=)
|
|
|
NM_000154.2(GALK1):c.339G>T (p.Val113=)
|
|
|
NM_000154.2(GALK1):c.33G>A (p.Glu11=)
|
rs2143608612
|
|
NM_000154.2(GALK1):c.345G>A (p.Gln115=)
|
rs748888762
|
|
NM_000154.2(GALK1):c.348C>T (p.Tyr116=)
|
|
|
NM_000154.2(GALK1):c.351C>T (p.Tyr117=)
|
rs778282318
|
|
NM_000154.2(GALK1):c.355+10C>G
|
|
|
NM_000154.2(GALK1):c.355+11C>G
|
|
|
NM_000154.2(GALK1):c.355+14G>T
|
|
|
NM_000154.2(GALK1):c.355+7G>C
|
|
|
NM_000154.2(GALK1):c.355+8G>A
|
|
|
NM_000154.2(GALK1):c.355+8G>T
|
|
|
NM_000154.2(GALK1):c.356-11T>G
|
|
|
NM_000154.2(GALK1):c.356-19C>T
|
rs781400629
|
|
NM_000154.2(GALK1):c.356-20A>G
|
|
|
NM_000154.2(GALK1):c.356-8C>A
|
|
|
NM_000154.2(GALK1):c.356-8C>T
|
|
|
NM_000154.2(GALK1):c.363C>A (p.Pro121=)
|
rs779234943
|
|
NM_000154.2(GALK1):c.372C>A (p.Gly124=)
|
rs2061596661
|
|
NM_000154.2(GALK1):c.396A>C (p.Ser132=)
|
rs766401384
|
|
NM_000154.2(GALK1):c.396A>G (p.Ser132=)
|
rs766401384
|
|
NM_000154.2(GALK1):c.399G>A (p.Val133=)
|
|
|
NM_000154.2(GALK1):c.39G>T (p.Leu13=)
|
rs2143608593
|
|
NM_000154.2(GALK1):c.408G>C (p.Gly136=)
|
rs138057626
|
|
NM_000154.2(GALK1):c.417G>A (p.Leu139=)
|
rs761316738
|
|
NM_000154.2(GALK1):c.420C>T (p.Ser140=)
|
|
|
NM_000154.2(GALK1):c.432C>G (p.Ser144=)
|
rs150323432
|
|
NM_000154.2(GALK1):c.438A>G (p.Glu146=)
|
rs2143603645
|
|
NM_000154.2(GALK1):c.447G>C (p.Thr149=)
|
rs765744088
|
|
NM_000154.2(GALK1):c.450C>T (p.Tyr150=)
|
|
|
NM_000154.2(GALK1):c.459C>T (p.Leu153=)
|
rs147800408
|
|
NM_000154.2(GALK1):c.465G>A (p.Gln155=)
|
|
|
NM_000154.2(GALK1):c.471T>C (p.Cys157=)
|
|
|
NM_000154.2(GALK1):c.475+14C>T
|
|
|
NM_000154.2(GALK1):c.475+19C>G
|
|
|
NM_000154.2(GALK1):c.476-10T>C
|
|
|
NM_000154.2(GALK1):c.476-17C>T
|
|
|
NM_000154.2(GALK1):c.476-17dup
|
|
|
NM_000154.2(GALK1):c.476-8_476-4del
|
|
|
NM_000154.2(GALK1):c.486A>G (p.Thr162=)
|
|
|
NM_000154.2(GALK1):c.486A>T (p.Thr162=)
|
|
|
NM_000154.2(GALK1):c.489A>T (p.Ile163=)
|
rs2143603001
|
|
NM_000154.2(GALK1):c.495C>T (p.Ala165=)
|
rs750290029
|
|
NM_000154.2(GALK1):c.501C>A (p.Ala167=)
|
|
|
NM_000154.2(GALK1):c.501C>T (p.Ala167=)
|
|
|
NM_000154.2(GALK1):c.507G>A (p.Val169=)
|
rs760305997
|
|
NM_000154.2(GALK1):c.516G>A (p.Gln172=)
|
rs1282302483
|
|
NM_000154.2(GALK1):c.519C>A (p.Ala173=)
|
rs141983398
|
|
NM_000154.2(GALK1):c.519C>G (p.Ala173=)
|
rs141983398
|
|
NM_000154.2(GALK1):c.519C>T (p.Ala173=)
|
rs141983398
|
|
NM_000154.2(GALK1):c.537G>A (p.Gly179=)
|
rs2143602754
|
|
NM_000154.2(GALK1):c.543C>T (p.Pro181=)
|
|
|
NM_000154.2(GALK1):c.573T>A (p.Leu191=)
|
rs2061594551
|
|
NM_000154.2(GALK1):c.573T>C (p.Leu191=)
|
rs2061594551
|
|
NM_000154.2(GALK1):c.57C>T (p.Ala19=)
|
|
|
NM_000154.2(GALK1):c.585A>G (p.Lys195=)
|
rs1321214794
|
|
NM_000154.2(GALK1):c.594G>A (p.Ala198=)
|
rs755764957
|
|
NM_000154.2(GALK1):c.594G>C (p.Ala198=)
|
rs755764957
|
|
NM_000154.2(GALK1):c.611+11C>A
|
|
|
NM_000154.2(GALK1):c.611+15C>A
|
|
|
NM_000154.2(GALK1):c.611+15C>T
|
|
|
NM_000154.2(GALK1):c.611+19G>A
|
|
|
NM_000154.2(GALK1):c.611+19G>T
|
|
|
NM_000154.2(GALK1):c.612-17T>C
|
|
|
NM_000154.2(GALK1):c.612-18A>G
|
|
|
NM_000154.2(GALK1):c.612-20C>G
|
|
|
NM_000154.2(GALK1):c.612-4C>G
|
rs2061593526
|
|
NM_000154.2(GALK1):c.612-6C>T
|
|
|
NM_000154.2(GALK1):c.612-7A>C
|
rs946374109
|
|
NM_000154.2(GALK1):c.612-8C>T
|
rs2143602055
|
|
NM_000154.2(GALK1):c.639C>G (p.Leu213=)
|
|
|
NM_000154.2(GALK1):c.657C>G (p.Ala219=)
|
|
|
NM_000154.2(GALK1):c.660G>A (p.Val220=)
|
rs2143601804
|
|
NM_000154.2(GALK1):c.660G>C (p.Val220=)
|
rs2143601804
|
|
NM_000154.2(GALK1):c.663C>T (p.Leu221=)
|
rs2143601784
|
|
NM_000154.2(GALK1):c.681C>T (p.Val227=)
|
|
|
NM_000154.2(GALK1):c.691C>T (p.Leu231=)
|
|
|
NM_000154.2(GALK1):c.69G>A (p.Glu23=)
|
|
|
NM_000154.2(GALK1):c.708C>T (p.Tyr236=)
|
|
|
NM_000154.2(GALK1):c.714G>A (p.Val238=)
|
|
|
NM_000154.2(GALK1):c.715C>A (p.Arg239=)
|
|
|
NM_000154.2(GALK1):c.741C>T (p.Ala247=)
|
|
|
NM_000154.2(GALK1):c.756G>A (p.Lys252=)
|
|
|
NM_000154.2(GALK1):c.780G>A (p.Leu260=)
|
rs2143601311
|
|
NM_000154.2(GALK1):c.787C>T (p.Leu263=)
|
rs886053420
|
|
NM_000154.2(GALK1):c.78C>A (p.Ala26=)
|
rs111772385
|
|
NM_000154.2(GALK1):c.793+13A>G
|
|
|
NM_000154.2(GALK1):c.793+15G>A
|
|
|
NM_000154.2(GALK1):c.793+19C>T
|
|
|
NM_000154.2(GALK1):c.794-12T>C
|
|
|
NM_000154.2(GALK1):c.794-4C>A
|
|
|
NM_000154.2(GALK1):c.794-6C>T
|
rs2143588609
|
|
NM_000154.2(GALK1):c.799A>C (p.Arg267=)
|
rs2143588547
|
|
NM_000154.2(GALK1):c.801G>A (p.Arg267=)
|
|
|
NM_000154.2(GALK1):c.807G>A (p.Leu269=)
|
|
|
NM_000154.2(GALK1):c.807G>C (p.Leu269=)
|
|
|
NM_000154.2(GALK1):c.819G>A (p.Glu273=)
|
|
|
NM_000154.2(GALK1):c.81G>A (p.Glu27=)
|
rs2061605081
|
|
NM_000154.2(GALK1):c.822C>T (p.Gly274=)
|
rs2143588442
|
|
NM_000154.2(GALK1):c.829C>A (p.Arg277=)
|
rs550012222
|
|
NM_000154.2(GALK1):c.834C>T (p.Ala278=)
|
|
|
NM_000154.2(GALK1):c.837G>A (p.Arg279=)
|
rs1471733833
|
|
NM_000154.2(GALK1):c.843G>C (p.Val281=)
|
rs1490873505
|
|
NM_000154.2(GALK1):c.843G>T (p.Val281=)
|
|
|
NM_000154.2(GALK1):c.846G>A (p.Val282=)
|
rs1289458233
|
|
NM_000154.2(GALK1):c.849G>A (p.Gly283=)
|
|
|
NM_000154.2(GALK1):c.84C>T (p.Pro28=)
|
|
|
NM_000154.2(GALK1):c.864G>A (p.Thr288=)
|
rs201247556
|
|
NM_000154.2(GALK1):c.864G>T (p.Thr288=)
|
rs201247556
|
|
NM_000154.2(GALK1):c.867C>A (p.Ala289=)
|
|
|
NM_000154.2(GALK1):c.879C>T (p.Ala293=)
|
|
|
NM_000154.2(GALK1):c.882C>T (p.Ala294=)
|
|
|
NM_000154.2(GALK1):c.900C>T (p.Tyr300=)
|
rs2143587826
|
|
NM_000154.2(GALK1):c.903A>G (p.Arg301=)
|
|
|
NM_000154.2(GALK1):c.90G>C (p.Leu30=)
|
|
|
NM_000154.2(GALK1):c.912C>T (p.Gly304=)
|
|
|
NM_000154.2(GALK1):c.918C>T (p.Leu306=)
|
|
|
NM_000154.2(GALK1):c.930C>T (p.Ser310=)
|
rs767539734
|
|
NM_000154.2(GALK1):c.939A>T (p.Ser313=)
|
rs2143587541
|
|
NM_000154.2(GALK1):c.93C>T (p.Ala31=)
|
rs1165544582
|
|
NM_000154.2(GALK1):c.942C>T (p.Leu314=)
|
rs2143587515
|
|
NM_000154.2(GALK1):c.944+16C>T
|
|
|
NM_000154.2(GALK1):c.944+17G>A
|
|
|
NM_000154.2(GALK1):c.944+20C>G
|
|
|
NM_000154.2(GALK1):c.945-14T>C
|
|
|
NM_000154.2(GALK1):c.945-20C>A
|
|
|
NM_000154.2(GALK1):c.945-4G>A
|
rs2143586908
|
|
NM_000154.2(GALK1):c.975G>T (p.Leu325=)
|
rs1247403138
|
|
NM_000154.2(GALK1):c.990G>A (p.Glu330=)
|
rs2143586648
|
|
NM_000155.4(GALT):c.1011T>G (p.Val337=)
|
|
|
NM_000155.4(GALT):c.1059+10C>G
|
|
|
NM_000155.4(GALT):c.1059+15C>T
|
|
|
NM_000155.4(GALT):c.1059+16_1059+17insT
|
|
|
NM_000155.4(GALT):c.1059+17G>C
|
|
|
NM_000155.4(GALT):c.1059+19C>T
|
|
|
NM_000155.4(GALT):c.1059+7A>C
|
rs2132346581
|
|
NM_000155.4(GALT):c.1059+7A>G
|
|
|
NM_000155.4(GALT):c.1059+8C>A
|
|
|
NM_000155.4(GALT):c.1060-4C>G
|
|
|
NM_000155.4(GALT):c.1060-9C>T
|
|
|
NM_000155.4(GALT):c.1065A>G (p.Ala355=)
|
|
|
NM_000155.4(GALT):c.1071A>G (p.Arg357=)
|
rs1587241773
|
|
NM_000155.4(GALT):c.1080A>T (p.Ala360=)
|
rs2132347971
|
|
NM_000155.4(GALT):c.1086T>G (p.Pro362=)
|
rs2132347985
|
|
NM_000155.4(GALT):c.108G>A (p.Pro36=)
|
rs1362198825
|
|
NM_000155.4(GALT):c.1095T>C (p.His365=)
|
rs765630722
|
|
NM_000155.4(GALT):c.1098C>T (p.Tyr366=)
|
|
|
NM_000155.4(GALT):c.1102C>T (p.Leu368=)
|
rs758706590
|
|
NM_000155.4(GALT):c.1107G>A (p.Gly369=)
|
|
|
NM_000155.4(GALT):c.1128A>G (p.Ala376=)
|
rs781374930
|
|
NM_000155.4(GALT):c.1131C>T (p.Thr377=)
|
|
|
NM_000155.4(GALT):c.129G>T (p.Leu43=)
|
rs767903479
|
|
NM_000155.4(GALT):c.141C>T (p.His47=)
|
rs2132341583
|
|
NM_000155.4(GALT):c.151C>A (p.Arg51=)
|
|
|
NM_000155.4(GALT):c.153G>A (p.Arg51=)
|
rs2132341618
|
|
NM_000155.4(GALT):c.15A>G (p.Gly5=)
|
rs2132340741
|
|
NM_000155.4(GALT):c.162G>A (p.Gln54=)
|
rs766778777
|
|
NM_000155.4(GALT):c.174G>A (p.Glu58=)
|
rs754140417
|
|
NM_000155.4(GALT):c.177C>T (p.Pro59=)
|
|
|
NM_000155.4(GALT):c.183T>G (p.Leu61=)
|
rs2132341678
|
|
NM_000155.4(GALT):c.18C>G (p.Thr6=)
|
|
|
NM_000155.4(GALT):c.192A>T (p.Thr64=)
|
rs2132341711
|
|
NM_000155.4(GALT):c.210T>A (p.Pro70=)
|
|
|
NM_000155.4(GALT):c.210T>C (p.Pro70=)
|
|
|
NM_000155.4(GALT):c.216C>T (p.Asn72=)
|
rs2132341779
|
|
NM_000155.4(GALT):c.24T>G (p.Pro8=)
|
|
|
NM_000155.4(GALT):c.252+10T>C
|
rs2132341894
|
|
NM_000155.4(GALT):c.252+13_252+14del
|
|
|
NM_000155.4(GALT):c.252+7C>T
|
|
|
NM_000155.4(GALT):c.252+8T>C
|
|
|
NM_000155.4(GALT):c.253-16C>T
|
|
|
NM_000155.4(GALT):c.253-18G>A
|
rs567181626
|
|
NM_000155.4(GALT):c.253-19del
|
|
|
NM_000155.4(GALT):c.253-20T>C
|
|
|
NM_000155.4(GALT):c.253-5G>T
|
rs762136953
|
|
NM_000155.4(GALT):c.253-8G>T
|
|
|
NM_000155.4(GALT):c.273C>T (p.Ser91=)
|
rs2132342404
|
|
NM_000155.4(GALT):c.279C>T (p.Phe93=)
|
rs1307903821
|
|
NM_000155.4(GALT):c.291C>T (p.Asn97=)
|
rs398123180
|
|
NM_000155.4(GALT):c.303T>C (p.Ala101=)
|
rs2132342478
|
|
NM_000155.4(GALT):c.304C>T (p.Leu102=)
|
rs2132342481
|
|
NM_000155.4(GALT):c.30A>G (p.Gln10=)
|
|
|
NM_000155.4(GALT):c.318C>T (p.Ala106=)
|
|
|
NM_000155.4(GALT):c.324T>C (p.Ser108=)
|
rs1262655852
|
|
NM_000155.4(GALT):c.328+13C>T
|
|
|
NM_000155.4(GALT):c.328+15A>G
|
|
|
NM_000155.4(GALT):c.328+8G>A
|
rs2132342533
|
|
NM_000155.4(GALT):c.329-12C>T
|
|
|
NM_000155.4(GALT):c.329-14C>T
|
|
|
NM_000155.4(GALT):c.329-20G>C
|
|
|
NM_000155.4(GALT):c.329-5C>T
|
|
|
NM_000155.4(GALT):c.329-6C>T
|
|
|
NM_000155.4(GALT):c.329-9T>C
|
|
|
NM_000155.4(GALT):c.357A>C (p.Ala119=)
|
rs2132342704
|
|
NM_000155.4(GALT):c.363T>C (p.Ser121=)
|
rs2132342720
|
|
NM_000155.4(GALT):c.363T>G (p.Ser121=)
|
|
|
NM_000155.4(GALT):c.36G>A (p.Gln12=)
|
|
|
NM_000155.4(GALT):c.377+12T>C
|
|
|
NM_000155.4(GALT):c.377+17C>A
|
|
|
NM_000155.4(GALT):c.377+19T>C
|
|
|
NM_000155.4(GALT):c.377+20C>G
|
|
|
NM_000155.4(GALT):c.377+7A>G
|
rs376026879
|
|
NM_000155.4(GALT):c.377+8T>C
|
rs1587238189
|
|
NM_000155.4(GALT):c.378-10C>T
|
|
|
NM_000155.4(GALT):c.378-13C>T
|
|
|
NM_000155.4(GALT):c.378-14C>A
|
|
|
NM_000155.4(GALT):c.378-15C>T
|
|
|
NM_000155.4(GALT):c.378-4C>T
|
rs2132343006
|
|
NM_000155.4(GALT):c.396C>T (p.His132=)
|
rs367543256
|
|
NM_000155.4(GALT):c.405G>C (p.Ser135=)
|
|
|
NM_000155.4(GALT):c.414G>A (p.Thr138=)
|
rs116479817
|
|
NM_000155.4(GALT):c.417G>A (p.Leu139=)
|
|
|
NM_000155.4(GALT):c.423C>T (p.Leu141=)
|
|
|
NM_000155.4(GALT):c.450T>A (p.Val150=)
|
rs886063884
|
|
NM_000155.4(GALT):c.45A>G (p.Ser15=)
|
rs2132340841
|
|
NM_000155.4(GALT):c.45A>T (p.Ser15=)
|
|
|
NM_000155.4(GALT):c.480G>A (p.Glu160=)
|
rs1587238612
|
|
NM_000155.4(GALT):c.483G>T (p.Leu161=)
|
rs2132343289
|
|
NM_000155.4(GALT):c.48G>A (p.Glu16=)
|
|
|
NM_000155.4(GALT):c.504G>A (p.Val168=)
|
rs913565225
|
|
NM_000155.4(GALT):c.507+10G>T
|
|
|
NM_000155.4(GALT):c.507+13G>A
|
|
|
NM_000155.4(GALT):c.507+13G>T
|
|
|
NM_000155.4(GALT):c.507+9G>A
|
rs1438905582
|
|
NM_000155.4(GALT):c.508-11C>T
|
|
|
NM_000155.4(GALT):c.508-15A>G
|
|
|
NM_000155.4(GALT):c.508-17G>C
|
|
|
NM_000155.4(GALT):c.508-17G>T
|
|
|
NM_000155.4(GALT):c.508-18C>G
|
|
|
NM_000155.4(GALT):c.508-18C>T
|
|
|
NM_000155.4(GALT):c.508-19C>T
|
|
|
NM_000155.4(GALT):c.508-4A>G
|
|
|
NM_000155.4(GALT):c.508-9A>G
|
rs1821155158
|
|
NM_000155.4(GALT):c.51G>C (p.Ala17=)
|
|
|
NM_000155.4(GALT):c.522A>G (p.Lys174=)
|
|
|
NM_000155.4(GALT):c.549C>A (p.Pro183=)
|
|
|
NM_000155.4(GALT):c.558C>T (p.His186=)
|
|
|
NM_000155.4(GALT):c.564+14G>A
|
|
|
NM_000155.4(GALT):c.564+16G>A
|
|
|
NM_000155.4(GALT):c.564+7G>T
|
rs760189807
|
|
NM_000155.4(GALT):c.564+8T>C
|
rs2132343810
|
|
NM_000155.4(GALT):c.565-10C>T
|
rs778835377
|
|
NM_000155.4(GALT):c.565-17C>T
|
|
|
NM_000155.4(GALT):c.565-20C>T
|
|
|
NM_000155.4(GALT):c.565-4A>G
|
|
|
NM_000155.4(GALT):c.565-4A>T
|
|
|
NM_000155.4(GALT):c.565-5G>A
|
|
|
NM_000155.4(GALT):c.565-7T>C
|
rs771840709
|
|
NM_000155.4(GALT):c.565-7T>G
|
rs771840709
|
|
NM_000155.4(GALT):c.565-8C>A
|
|
|
NM_000155.4(GALT):c.565-8C>T
|
rs569393869
|
|
NM_000155.4(GALT):c.565-9C>T
|
|
|
NM_000155.4(GALT):c.579T>C (p.Ser193=)
|
rs1821162871
|
|
NM_000155.4(GALT):c.57C>T (p.Ala19=)
|
rs1821111990
|
|
NM_000155.4(GALT):c.585G>T (p.Leu195=)
|
rs2132344100
|
|
NM_000155.4(GALT):c.588A>G (p.Pro196=)
|
|
|
NM_000155.4(GALT):c.594T>C (p.Ile198=)
|
|
|
NM_000155.4(GALT):c.597C>G (p.Ala199=)
|
|
|
NM_000155.4(GALT):c.621G>A (p.Gln207=)
|
rs1821164791
|
|
NM_000155.4(GALT):c.627T>C (p.Tyr209=)
|
|
|
NM_000155.4(GALT):c.630G>A (p.Lys210=)
|
rs367543260
|
|
NM_000155.4(GALT):c.636G>A (p.Gln212=)
|
|
|
NM_000155.4(GALT):c.642A>C (p.Gly214=)
|
|
|
NM_000155.4(GALT):c.642A>G (p.Gly214=)
|
rs1821165725
|
|
NM_000155.4(GALT):c.645G>A (p.Glu215=)
|
rs756379314
|
|
NM_000155.4(GALT):c.666C>T (p.Ser222=)
|
|
|
NM_000155.4(GALT):c.669C>T (p.Arg223=)
|
rs2132344347
|
|
NM_000155.4(GALT):c.675G>A (p.Glu225=)
|
|
|
NM_000155.4(GALT):c.678A>C (p.Leu226=)
|
|
|
NM_000155.4(GALT):c.681C>A (p.Leu227=)
|
|
|
NM_000155.4(GALT):c.682A>C (p.Arg228=)
|
rs2132344383
|
|
NM_000155.4(GALT):c.687+16G>A
|
|
|
NM_000155.4(GALT):c.687+19C>G
|
|
|
NM_000155.4(GALT):c.687+8A>G
|
rs2132344427
|
|
NM_000155.4(GALT):c.688-10G>A
|
rs1030389064
|
|
NM_000155.4(GALT):c.688-12_688-11del
|
rs777929860
|
|
NM_000155.4(GALT):c.688-17C>T
|
|
|
NM_000155.4(GALT):c.688-20T>C
|
|
|
NM_000155.4(GALT):c.688-4del
|
rs1462676944
|
|
NM_000155.4(GALT):c.688-7T>G
|
|
|
NM_000155.4(GALT):c.696G>A (p.Leu232=)
|
|
|
NM_000155.4(GALT):c.6G>A (p.Ser2=)
|
rs1410764100
|
|
NM_000155.4(GALT):c.700C>T (p.Leu234=)
|
rs751351126
|
|
NM_000155.4(GALT):c.723A>G (p.Val241=)
|
|
|
NM_000155.4(GALT):c.724C>T (p.Leu242=)
|
|
|
NM_000155.4(GALT):c.726G>A (p.Leu242=)
|
rs2132344939
|
|
NM_000155.4(GALT):c.759A>G (p.Thr253=)
|
rs1554709425
|
|
NM_000155.4(GALT):c.762G>C (p.Leu254=)
|
rs748639317
|
|
NM_000155.4(GALT):c.768G>T (p.Leu256=)
|
|
|
NM_000155.4(GALT):c.795T>C (p.Pro265=)
|
|
|
NM_000155.4(GALT):c.804C>T (p.Thr268=)
|
|
|
NM_000155.4(GALT):c.82+10C>T
|
rs1480449606
|
|
NM_000155.4(GALT):c.82+11C>A
|
|
|
NM_000155.4(GALT):c.82+14G>A
|
|
|
NM_000155.4(GALT):c.82+17A>C
|
|
|
NM_000155.4(GALT):c.82+17A>G
|
|
|
NM_000155.4(GALT):c.82+18G>A
|
|
|
NM_000155.4(GALT):c.82+19G>A
|
|
|
NM_000155.4(GALT):c.82+20G>A
|
|
|
NM_000155.4(GALT):c.82+20_82+60del
|
rs771008280
|
|
NM_000155.4(GALT):c.82+8C>A
|
rs368244179
|
|
NM_000155.4(GALT):c.820+13A>C
|
rs111033768
|
|
NM_000155.4(GALT):c.820+19A>G
|
|
|
NM_000155.4(GALT):c.821-13G>C
|
|
|
NM_000155.4(GALT):c.821-20G>T
|
|
|
NM_000155.4(GALT):c.821-6T>C
|
rs2132345339
|
|
NM_000155.4(GALT):c.823C>T (p.Leu275=)
|
|
|
NM_000155.4(GALT):c.828C>A (p.Ala276=)
|
rs1192715180
|
|
NM_000155.4(GALT):c.83-10del
|
|
|
NM_000155.4(GALT):c.83-14C>A
|
|
|
NM_000155.4(GALT):c.83-14C>T
|
|
|
NM_000155.4(GALT):c.83-17T>C
|
rs2132341385
|
|
NM_000155.4(GALT):c.83-19C>G
|
|
|
NM_000155.4(GALT):c.83-5C>T
|
|
|
NM_000155.4(GALT):c.83-7C>T
|
|
|
NM_000155.4(GALT):c.83-8G>A
|
|
|
NM_000155.4(GALT):c.831C>T (p.Ser277=)
|
rs755776140
|
|
NM_000155.4(GALT):c.840G>A (p.Lys280=)
|
rs1408275054
|
|
NM_000155.4(GALT):c.891C>T (p.Ser297=)
|
rs1250931166
|
|
NM_000155.4(GALT):c.904+11del
|
rs1337523880
|
|
NM_000155.4(GALT):c.904+15G>A
|
|
|
NM_000155.4(GALT):c.904+17A>G
|
|
|
NM_000155.4(GALT):c.904+7C>A
|
rs1564102104
|
|
NM_000155.4(GALT):c.904+9T>C
|
rs2132345603
|
|
NM_000155.4(GALT):c.905-11_905-9del
|
|
|
NM_000155.4(GALT):c.905-13_905-12del
|
|
|
NM_000155.4(GALT):c.905-16C>T
|
|
|
NM_000155.4(GALT):c.905-19TC[2]
|
|
|
NM_000155.4(GALT):c.905-20G>A
|
|
|
NM_000155.4(GALT):c.905-5G>C
|
|
|
NM_000155.4(GALT):c.918A>G (p.Gly306=)
|
|
|
NM_000155.4(GALT):c.933C>T (p.Ala311=)
|
rs2132346233
|
|
NM_000155.4(GALT):c.942C>T (p.Asn314=)
|
rs913223040
|
|
NM_000155.4(GALT):c.951G>A (p.Gln317=)
|
rs111033787
|
|
NM_000155.4(GALT):c.981G>C (p.Leu327=)
|
|
|
NM_000155.4(GALT):c.987T>C (p.Ser329=)
|
|
|
NM_000155.4(GALT):c.993T>C (p.Thr331=)
|
rs1821200887
|
|
NM_000158.4(GBE1):c.1005A>G (p.Leu335=)
|
rs1703918962
|
|
NM_000158.4(GBE1):c.1015C>T (p.Leu339=)
|
|
|
NM_000158.4(GBE1):c.1023C>T (p.Asn341=)
|
rs2106957100
|
|
NM_000158.4(GBE1):c.1026A>C (p.Ile342=)
|
|
|
NM_000158.4(GBE1):c.1044A>G (p.Glu348=)
|
rs1482348006
|
|
NM_000158.4(GBE1):c.1068T>C (p.Phe356=)
|
|
|
NM_000158.4(GBE1):c.1074T>C (p.Gly358=)
|
rs2106956989
|
|
NM_000158.4(GBE1):c.1077T>C (p.Val359=)
|
|
|
NM_000158.4(GBE1):c.108G>C (p.Pro36=)
|
|
|
NM_000158.4(GBE1):c.1098C>T (p.His366=)
|
|
|
NM_000158.4(GBE1):c.1108+10C>T
|
|
|
NM_000158.4(GBE1):c.1108+18A>G
|
|
|
NM_000158.4(GBE1):c.1108+7A>G
|
|
|
NM_000158.4(GBE1):c.1108+8del
|
rs2106956909
|
|
NM_000158.4(GBE1):c.1108+9C>T
|
|
|
NM_000158.4(GBE1):c.1109-13_1109-12del
|
|
|
NM_000158.4(GBE1):c.1109-20A>T
|
|
|
NM_000158.4(GBE1):c.1109-5del
|
|
|
NM_000158.4(GBE1):c.111C>T (p.Tyr37=)
|
|
|
NM_000158.4(GBE1):c.1134T>C (p.Ser378=)
|
rs36099971
|
|
NM_000158.4(GBE1):c.1146A>G (p.Gly382=)
|
rs2106952374
|
|
NM_000158.4(GBE1):c.1152A>G (p.Gln384=)
|
|
|
NM_000158.4(GBE1):c.1155A>G (p.Val385=)
|
|
|
NM_000158.4(GBE1):c.1161A>G (p.Glu387=)
|
rs1161376545
|
|
NM_000158.4(GBE1):c.1167C>T (p.Ala389=)
|
rs2106952325
|
|
NM_000158.4(GBE1):c.1168T>C (p.Leu390=)
|
|
|
NM_000158.4(GBE1):c.1173T>G (p.Thr391=)
|
rs1703871884
|
|
NM_000158.4(GBE1):c.1179C>G (p.Leu393=)
|
rs1703871746
|
|
NM_000158.4(GBE1):c.1179C>T (p.Leu393=)
|
|
|
NM_000158.4(GBE1):c.117G>A (p.Lys39=)
|
rs769399819
|
|
NM_000158.4(GBE1):c.1183T>C (p.Leu395=)
|
rs1269189934
|
|
NM_000158.4(GBE1):c.1188A>C (p.Ala396=)
|
|
|
NM_000158.4(GBE1):c.1203C>T (p.His401=)
|
|
|
NM_000158.4(GBE1):c.1215C>G (p.Pro405=)
|
|
|
NM_000158.4(GBE1):c.1227A>G (p.Thr409=)
|
|
|
NM_000158.4(GBE1):c.1236+10T>C
|
rs2106952130
|
|
NM_000158.4(GBE1):c.1236+11A>G
|
|
|
NM_000158.4(GBE1):c.1236+14G>A
|
|
|
NM_000158.4(GBE1):c.1236+18T>C
|
|
|
NM_000158.4(GBE1):c.1236+9A>G
|
|
|
NM_000158.4(GBE1):c.1237-14G>A
|
rs745815258
|
|
NM_000158.4(GBE1):c.1237-16A>G
|
|
|
NM_000158.4(GBE1):c.1237-17G>A
|
|
|
NM_000158.4(GBE1):c.1237-17G>C
|
|
|
NM_000158.4(GBE1):c.1237-18C>G
|
|
|
NM_000158.4(GBE1):c.1237-19C>A
|
|
|
NM_000158.4(GBE1):c.1237-19C>G
|
|
|
NM_000158.4(GBE1):c.1237-5dup
|
rs2106945329
|
|
NM_000158.4(GBE1):c.1237-7G>T
|
|
|
NM_000158.4(GBE1):c.123C>T (p.Tyr41=)
|
|
|
NM_000158.4(GBE1):c.1242A>T (p.Val414=)
|
|
|
NM_000158.4(GBE1):c.1245A>G (p.Ser415=)
|
|
|
NM_000158.4(GBE1):c.1260G>C (p.Leu420=)
|
rs1703800789
|
|
NM_000158.4(GBE1):c.1269A>G (p.Pro423=)
|
|
|
NM_000158.4(GBE1):c.126C>T (p.Ala42=)
|
|
|
NM_000158.4(GBE1):c.1284G>A (p.Gly428=)
|
rs1042856824
|
|
NM_000158.4(GBE1):c.1284G>T (p.Gly428=)
|
|
|
NM_000158.4(GBE1):c.129G>T (p.Val43=)
|
|
|
NM_000158.4(GBE1):c.12G>C (p.Pro4=)
|
rs781086301
|
|
NM_000158.4(GBE1):c.1314A>G (p.Ala438=)
|
|
|
NM_000158.4(GBE1):c.1335+10C>T
|
|
|
NM_000158.4(GBE1):c.1335+11A>G
|
|
|
NM_000158.4(GBE1):c.1335+11A>T
|
|
|
NM_000158.4(GBE1):c.1335+12T>C
|
|
|
NM_000158.4(GBE1):c.1335+14T>G
|
|
|
NM_000158.4(GBE1):c.1335+15A>G
|
|
|
NM_000158.4(GBE1):c.1335+17A>C
|
|
|
NM_000158.4(GBE1):c.1336-10_1336-9del
|
|
|
NM_000158.4(GBE1):c.1336-11C>A
|
|
|
NM_000158.4(GBE1):c.1336-13C>G
|
|
|
NM_000158.4(GBE1):c.1336-13C>T
|
|
|
NM_000158.4(GBE1):c.1336-19T>C
|
|
|
NM_000158.4(GBE1):c.1336-4C>T
|
|
|
NM_000158.4(GBE1):c.1336-5T>G
|
|
|
NM_000158.4(GBE1):c.1336-6G>A
|
|
|
NM_000158.4(GBE1):c.1336-7T>G
|
|
|
NM_000158.4(GBE1):c.1336-7dup
|
|
|
NM_000158.4(GBE1):c.1336-9T>C
|
|
|
NM_000158.4(GBE1):c.1344A>G (p.Lys448=)
|
rs2106938657
|
|
NM_000158.4(GBE1):c.135C>T (p.Phe45=)
|
rs777583603
|
|
NM_000158.4(GBE1):c.1362C>T (p.Asp454=)
|
rs2106938627
|
|
NM_000158.4(GBE1):c.1374C>A (p.Gly458=)
|
|
|
NM_000158.4(GBE1):c.1374C>T (p.Gly458=)
|
rs781667161
|
|
NM_000158.4(GBE1):c.1383A>G (p.Val461=)
|
rs2106938571
|
|
NM_000158.4(GBE1):c.1395A>G (p.Thr465=)
|
|
|
NM_000158.4(GBE1):c.1407C>T (p.Tyr469=)
|
|
|
NM_000158.4(GBE1):c.1410T>G (p.Leu470=)
|
|
|
NM_000158.4(GBE1):c.1413A>G (p.Glu471=)
|
rs2106938489
|
|
NM_000158.4(GBE1):c.1416G>A (p.Lys472=)
|
|
|
NM_000158.4(GBE1):c.1422T>C (p.Ile474=)
|
|
|
NM_000158.4(GBE1):c.143+14C>T
|
|
|
NM_000158.4(GBE1):c.143+16C>T
|
|
|
NM_000158.4(GBE1):c.143+18C>G
|
|
|
NM_000158.4(GBE1):c.143+19C>A
|
|
|
NM_000158.4(GBE1):c.143+20A>G
|
|
|
NM_000158.4(GBE1):c.143+8C>T
|
rs750447886
|
|
NM_000158.4(GBE1):c.1431A>G (p.Ala477=)
|
|
|
NM_000158.4(GBE1):c.1437C>T (p.Ser479=)
|
|
|
NM_000158.4(GBE1):c.144-12A>T
|
|
|
NM_000158.4(GBE1):c.144-15C>T
|
|
|
NM_000158.4(GBE1):c.1446+12T>C
|
|
|
NM_000158.4(GBE1):c.1446+20A>C
|
|
|
NM_000158.4(GBE1):c.1446+9A>C
|
|
|
NM_000158.4(GBE1):c.1447-15C>T
|
|
|
NM_000158.4(GBE1):c.1447-16A>G
|
|
|
NM_000158.4(GBE1):c.1447-19A>G
|
|
|
NM_000158.4(GBE1):c.1447-4G>A
|
|
|
NM_000158.4(GBE1):c.1447-4G>C
|
rs534847659
|
|
NM_000158.4(GBE1):c.1449A>T (p.Ala483=)
|
rs2106934011
|
|
NM_000158.4(GBE1):c.1458G>A (p.Gly486=)
|
|
|
NM_000158.4(GBE1):c.1464G>A (p.Lys488=)
|
|
|
NM_000158.4(GBE1):c.1467G>A (p.Ser489=)
|
rs1350341668
|
|
NM_000158.4(GBE1):c.1470G>A (p.Leu490=)
|
rs2106933948
|
|
NM_000158.4(GBE1):c.1491C>A (p.Ala497=)
|
|
|
NM_000158.4(GBE1):c.1491C>G (p.Ala497=)
|
rs778539439
|
|
NM_000158.4(GBE1):c.1494A>G (p.Glu498=)
|
rs2106933905
|
|
NM_000158.4(GBE1):c.153G>A (p.Gln51=)
|
|
|
NM_000158.4(GBE1):c.1542T>C (p.Asp514=)
|
|
|
NM_000158.4(GBE1):c.1545T>C (p.Arg515=)
|
|
|
NM_000158.4(GBE1):c.1548A>T (p.Gly516=)
|
|
|
NM_000158.4(GBE1):c.1554G>A (p.Gln518=)
|
|
|
NM_000158.4(GBE1):c.1569T>C (p.Ile523=)
|
rs1559650639
|
|
NM_000158.4(GBE1):c.1570C>A (p.Arg524=)
|
|
|
NM_000158.4(GBE1):c.1581G>T (p.Thr527=)
|
|
|
NM_000158.4(GBE1):c.1584T>C (p.His528=)
|
rs756678628
|
|
NM_000158.4(GBE1):c.159C>T (p.Ser53=)
|
rs1245333229
|
|
NM_000158.4(GBE1):c.1608C>T (p.Leu536=)
|
|
|
NM_000158.4(GBE1):c.1618+16A>T
|
|
|
NM_000158.4(GBE1):c.1618+20A>G
|
|
|
NM_000158.4(GBE1):c.1619-18A>C
|
|
|
NM_000158.4(GBE1):c.1619-18A>G
|
|
|
NM_000158.4(GBE1):c.1619-4_1619-3insGAATTTGG
|
|
|
NM_000158.4(GBE1):c.1632G>C (p.Gly544=)
|
|
|
NM_000158.4(GBE1):c.1638T>C (p.Pro546=)
|
rs2106872406
|
|
NM_000158.4(GBE1):c.1650C>T (p.Asp550=)
|
rs1281489436
|
|
NM_000158.4(GBE1):c.1656A>C (p.Pro552=)
|
rs1340229013
|
|
NM_000158.4(GBE1):c.166T>C (p.Leu56=)
|
|
|
NM_000158.4(GBE1):c.1677T>C (p.Ser559=)
|
|
|
NM_000158.4(GBE1):c.1693C>A (p.Arg565=)
|
|
|
NM_000158.4(GBE1):c.1698G>A (p.Gln566=)
|
|
|
NM_000158.4(GBE1):c.170A>G (p.Lys57Arg)
|
rs544821452
|
|
NM_000158.4(GBE1):c.1710T>G (p.Thr570=)
|
rs2106872244
|
|
NM_000158.4(GBE1):c.1725T>C (p.Leu575=)
|
|
|
NM_000158.4(GBE1):c.1728C>G (p.Arg576=)
|
|
|
NM_000158.4(GBE1):c.1731C>T (p.Tyr577=)
|
|
|
NM_000158.4(GBE1):c.1734G>A (p.Lys578=)
|
|
|
NM_000158.4(GBE1):c.1768T>C (p.Leu590=)
|
rs1033042780
|
|
NM_000158.4(GBE1):c.1770G>A (p.Leu590=)
|
rs1703083660
|
|
NM_000158.4(GBE1):c.1773A>G (p.Glu591=)
|
|
|
NM_000158.4(GBE1):c.1782T>C (p.Tyr594=)
|
rs2106872059
|
|
NM_000158.4(GBE1):c.1803+11C>T
|
|
|
NM_000158.4(GBE1):c.1803+17G>A
|
|
|
NM_000158.4(GBE1):c.1803+17G>T
|
|
|
NM_000158.4(GBE1):c.1803+18G>A
|
|
|
NM_000158.4(GBE1):c.1803+19A>T
|
|
|
NM_000158.4(GBE1):c.1804-13C>T
|
|
|
NM_000158.4(GBE1):c.1804-16G>A
|
|
|
NM_000158.4(GBE1):c.1804-16G>C
|
|
|
NM_000158.4(GBE1):c.1806C>A (p.Ala602=)
|
rs1343991404
|
|
NM_000158.4(GBE1):c.180A>C (p.Gly60=)
|
|
|
NM_000158.4(GBE1):c.1821A>G (p.Lys607=)
|
rs2106869704
|
|
NM_000158.4(GBE1):c.1836G>A (p.Lys612=)
|
|
|
NM_000158.4(GBE1):c.1839C>T (p.Ile613=)
|
rs535185036
|
|
NM_000158.4(GBE1):c.1842T>A (p.Ile614=)
|
rs774354874
|
|
NM_000158.4(GBE1):c.1878C>T (p.Asn626=)
|
|
|
NM_000158.4(GBE1):c.1893G>A (p.Lys631=)
|
|
|
NM_000158.4(GBE1):c.18T>A (p.Thr6=)
|
rs2107250932
|
|
NM_000158.4(GBE1):c.18T>C (p.Thr6=)
|
rs2107250932
|
|
NM_000158.4(GBE1):c.1902T>C (p.Thr634=)
|
rs754115580
|
|
NM_000158.4(GBE1):c.1917A>G (p.Gly639=)
|
rs2106869498
|
|
NM_000158.4(GBE1):c.1929A>G (p.Pro643=)
|
|
|
NM_000158.4(GBE1):c.1934+12G>C
|
|
|
NM_000158.4(GBE1):c.1935-10A>G
|
rs755109777
|
|
NM_000158.4(GBE1):c.1935-14C>T
|
|
|
NM_000158.4(GBE1):c.1935-7G>C
|
rs1474858058
|
|
NM_000158.4(GBE1):c.1941A>G (p.Lys647=)
|
rs1039372291
|
|
NM_000158.4(GBE1):c.1950A>G (p.Leu650=)
|
rs2106809976
|
|
NM_000158.4(GBE1):c.1962A>G (p.Ala654=)
|
|
|
NM_000158.4(GBE1):c.1980T>C (p.His660=)
|
|
|
NM_000158.4(GBE1):c.1986A>G (p.Arg662=)
|
rs2106809904
|
|
NM_000158.4(GBE1):c.1989G>T (p.Leu663=)
|
|
|
NM_000158.4(GBE1):c.1992C>T (p.Asp664=)
|
rs780527478
|
|
NM_000158.4(GBE1):c.2004C>T (p.Asp668=)
|
rs757815784
|
|
NM_000158.4(GBE1):c.2028T>C (p.His676=)
|
rs2106809824
|
|
NM_000158.4(GBE1):c.2040C>T (p.Pro680=)
|
|
|
NM_000158.4(GBE1):c.2052+19A>G
|
|
|
NM_000158.4(GBE1):c.2052+20T>A
|
|
|
NM_000158.4(GBE1):c.2052+20T>C
|
|
|
NM_000158.4(GBE1):c.2053-19C>T
|
|
|
NM_000158.4(GBE1):c.2053-3350G>C
|
|
|
NM_000158.4(GBE1):c.2053-3351G>A
|
rs2106802092
|
|
NM_000158.4(GBE1):c.2053-3354G>T
|
|
|
NM_000158.4(GBE1):c.2053-3358G>T
|
rs1702468173
|
|
NM_000158.4(GBE1):c.2053-4G>A
|
rs185009612
|
|
NM_000158.4(GBE1):c.2053-4G>C
|
rs185009612
|
|
NM_000158.4(GBE1):c.2053-4G>T
|
rs185009612
|
|
NM_000158.4(GBE1):c.2053-5C>T
|
|
|
NM_000158.4(GBE1):c.2058C>T (p.Tyr686=)
|
rs2106796993
|
|
NM_000158.4(GBE1):c.2067C>T (p.Ser689=)
|
rs1173853844
|
|
NM_000158.4(GBE1):c.2073G>T (p.Val691=)
|
|
|
NM_000158.4(GBE1):c.2106T>C (p.Asn702=)
|
|
|
NM_000158.4(GBE1):c.211A>C (p.Arg71=)
|
rs1576206635
|
|
NM_000158.4(GBE1):c.249T>C (p.Asp83=)
|
|
|
NM_000158.4(GBE1):c.261C>T (p.Tyr87=)
|
|
|
NM_000158.4(GBE1):c.270A>G (p.Glu90=)
|
rs1576206589
|
|
NM_000158.4(GBE1):c.276C>T (p.Ala92=)
|
|
|
NM_000158.4(GBE1):c.303T>C (p.Thr101=)
|
rs2107168711
|
|
NM_000158.4(GBE1):c.309T>C (p.Asp103=)
|
rs2107168700
|
|
NM_000158.4(GBE1):c.313+10dup
|
rs2107168668
|
|
NM_000158.4(GBE1):c.313+16_313+17dup
|
|
|
NM_000158.4(GBE1):c.313+17A>G
|
|
|
NM_000158.4(GBE1):c.313+17A>T
|
|
|
NM_000158.4(GBE1):c.313+18T>C
|
|
|
NM_000158.4(GBE1):c.313+20G>T
|
|
|
NM_000158.4(GBE1):c.313+8C>G
|
rs773124221
|
|
NM_000158.4(GBE1):c.313+8C>T
|
|
|
NM_000158.4(GBE1):c.314-13T>C
|
|
|
NM_000158.4(GBE1):c.314-13_314-11del
|
|
|
NM_000158.4(GBE1):c.314-18T>C
|
|
|
NM_000158.4(GBE1):c.314-8T>A
|
rs2107114832
|
|
NM_000158.4(GBE1):c.333G>A (p.Ser111=)
|
rs374518318
|
|
NM_000158.4(GBE1):c.333G>C (p.Ser111=)
|
rs374518318
|
|
NM_000158.4(GBE1):c.333G>T (p.Ser111=)
|
rs374518318
|
|
NM_000158.4(GBE1):c.339A>C (p.Pro113=)
|
|
|
NM_000158.4(GBE1):c.339A>G (p.Pro113=)
|
rs1375726428
|
|
NM_000158.4(GBE1):c.33C>G (p.Pro11=)
|
rs773585404
|
|
NM_000158.4(GBE1):c.351G>A (p.Leu117=)
|
rs749666538
|
|
NM_000158.4(GBE1):c.369G>A (p.Glu123=)
|
rs2107114689
|
|
NM_000158.4(GBE1):c.36G>A (p.Glu12=)
|
rs1024161275
|
|
NM_000158.4(GBE1):c.378C>T (p.Ile126=)
|
|
|
NM_000158.4(GBE1):c.387G>A (p.Lys129=)
|
|
|
NM_000158.4(GBE1):c.429+12C>G
|
|
|
NM_000158.4(GBE1):c.429+12C>T
|
|
|
NM_000158.4(GBE1):c.429+13C>G
|
|
|
NM_000158.4(GBE1):c.429+18A>G
|
|
|
NM_000158.4(GBE1):c.429+8C>G
|
|
|
NM_000158.4(GBE1):c.429+9C>G
|
|
|
NM_000158.4(GBE1):c.429+9C>T
|
|
|
NM_000158.4(GBE1):c.42C>T (p.Tyr14=)
|
rs1328296506
|
|
NM_000158.4(GBE1):c.430-10C>T
|
|
|
NM_000158.4(GBE1):c.430-15T>C
|
|
|
NM_000158.4(GBE1):c.430-18A>G
|
|
|
NM_000158.4(GBE1):c.430-18A>T
|
|
|
NM_000158.4(GBE1):c.430-7T>C
|
|
|
NM_000158.4(GBE1):c.430-8C>T
|
|
|
NM_000158.4(GBE1):c.430-9T>C
|
|
|
NM_000158.4(GBE1):c.432A>G (p.Val144=)
|
rs2107074991
|
|
NM_000158.4(GBE1):c.441T>C (p.Thr147=)
|
|
|
NM_000158.4(GBE1):c.456G>A (p.Glu152=)
|
rs1364827182
|
|
NM_000158.4(GBE1):c.465T>C (p.Tyr155=)
|
rs2107074898
|
|
NM_000158.4(GBE1):c.477G>T (p.Pro159=)
|
|
|
NM_000158.4(GBE1):c.48G>A (p.Ala16=)
|
|
|
NM_000158.4(GBE1):c.498T>C (p.Arg166=)
|
|
|
NM_000158.4(GBE1):c.522T>C (p.Asp174=)
|
|
|
NM_000158.4(GBE1):c.543A>G (p.Glu181=)
|
|
|
NM_000158.4(GBE1):c.549A>C (p.Ser183=)
|
rs1489092127
|
|
NM_000158.4(GBE1):c.552T>C (p.Tyr184=)
|
rs1576185089
|
|
NM_000158.4(GBE1):c.555+10A>G
|
|
|
NM_000158.4(GBE1):c.555+11_555+19dup
|
|
|
NM_000158.4(GBE1):c.555+12A>C
|
|
|
NM_000158.4(GBE1):c.555+20A>G
|
|
|
NM_000158.4(GBE1):c.555+20A>T
|
|
|
NM_000158.4(GBE1):c.556-11A>T
|
|
|
NM_000158.4(GBE1):c.556-12T>C
|
|
|
NM_000158.4(GBE1):c.556-19A>G
|
|
|
NM_000158.4(GBE1):c.556-19A>T
|
|
|
NM_000158.4(GBE1):c.556-20C>T
|
|
|
NM_000158.4(GBE1):c.556-4G>A
|
rs377175400
|
|
NM_000158.4(GBE1):c.556-8T>C
|
|
|
NM_000158.4(GBE1):c.556-9A>G
|
rs756607435
|
|
NM_000158.4(GBE1):c.573A>G (p.Pro191=)
|
rs2107072385
|
|
NM_000158.4(GBE1):c.585G>A (p.Arg195=)
|
|
|
NM_000158.4(GBE1):c.603A>G (p.Glu201=)
|
|
|
NM_000158.4(GBE1):c.60C>A (p.Ala20=)
|
rs781174947
|
|
NM_000158.4(GBE1):c.612G>A (p.Val204=)
|
|
|
NM_000158.4(GBE1):c.627T>C (p.His209=)
|
rs1704806575
|
|
NM_000158.4(GBE1):c.636A>G (p.Lys212=)
|
|
|
NM_000158.4(GBE1):c.639A>G (p.Val213=)
|
|
|
NM_000158.4(GBE1):c.63C>T (p.Ala21=)
|
rs2107250762
|
|
NM_000158.4(GBE1):c.651A>G (p.Lys217=)
|
rs1704806079
|
|
NM_000158.4(GBE1):c.654T>C (p.His218=)
|
rs753853692
|
|
NM_000158.4(GBE1):c.666T>C (p.Asn222=)
|
|
|
NM_000158.4(GBE1):c.669A>T (p.Val223=)
|
|
|
NM_000158.4(GBE1):c.66G>A (p.Leu22=)
|
rs2107250748
|
|
NM_000158.4(GBE1):c.672A>G (p.Leu224=)
|
|
|
NM_000158.4(GBE1):c.691+15_691+16del
|
|
|
NM_000158.4(GBE1):c.691+8A>G
|
|
|
NM_000158.4(GBE1):c.692-10C>G
|
rs2107066201
|
|
NM_000158.4(GBE1):c.692-17A>G
|
|
|
NM_000158.4(GBE1):c.692-9dup
|
|
|
NM_000158.4(GBE1):c.693A>G (p.Gly231=)
|
|
|
NM_000158.4(GBE1):c.69T>C (p.Ala23=)
|
|
|
NM_000158.4(GBE1):c.6G>T (p.Ala2=)
|
|
|
NM_000158.4(GBE1):c.708G>A (p.Gln236=)
|
|
|
NM_000158.4(GBE1):c.720C>T (p.Ile240=)
|
|
|
NM_000158.4(GBE1):c.72C>T (p.Asp24=)
|
|
|
NM_000158.4(GBE1):c.75G>A (p.Val25=)
|
rs1390802875
|
|
NM_000158.4(GBE1):c.762A>G (p.Thr254=)
|
|
|
NM_000158.4(GBE1):c.768C>T (p.Phe256=)
|
rs1480699088
|
|
NM_000158.4(GBE1):c.774A>C (p.Ala258=)
|
|
|
NM_000158.4(GBE1):c.782+18T>C
|
|
|
NM_000158.4(GBE1):c.782+19T>C
|
|
|
NM_000158.4(GBE1):c.782+20G>A
|
|
|
NM_000158.4(GBE1):c.783-11T>C
|
|
|
NM_000158.4(GBE1):c.783-12C>T
|
|
|
NM_000158.4(GBE1):c.783-7T>C
|
rs528473675
|
|
NM_000158.4(GBE1):c.783-8A>C
|
|
|
NM_000158.4(GBE1):c.789T>C (p.Tyr263=)
|
rs1559673593
|
|
NM_000158.4(GBE1):c.78C>G (p.Pro26=)
|
rs1575782131
|
|
NM_000158.4(GBE1):c.78C>T (p.Pro26=)
|
rs1575782131
|
|
NM_000158.4(GBE1):c.792A>G (p.Gly264=)
|
rs2107059886
|
|
NM_000158.4(GBE1):c.792A>T (p.Gly264=)
|
|
|
NM_000158.4(GBE1):c.804G>A (p.Glu268=)
|
|
|
NM_000158.4(GBE1):c.805C>T (p.Leu269=)
|
|
|
NM_000158.4(GBE1):c.807A>G (p.Leu269=)
|
rs760271506
|
|
NM_000158.4(GBE1):c.810A>G (p.Gln270=)
|
|
|
NM_000158.4(GBE1):c.813A>G (p.Glu271=)
|
|
|
NM_000158.4(GBE1):c.814C>T (p.Leu272=)
|
rs1217155813
|
|
NM_000158.4(GBE1):c.822C>T (p.Asp274=)
|
rs2107059776
|
|
NM_000158.4(GBE1):c.825A>G (p.Thr275=)
|
|
|
NM_000158.4(GBE1):c.825A>T (p.Thr275=)
|
rs2107059770
|
|
NM_000158.4(GBE1):c.828T>C (p.Ala276=)
|
|
|
NM_000158.4(GBE1):c.82C>T (p.Leu28=)
|
|
|
NM_000158.4(GBE1):c.846A>C (p.Ile282=)
|
rs959259894
|
|
NM_000158.4(GBE1):c.849C>G (p.Val283=)
|
rs1704706491
|
|
NM_000158.4(GBE1):c.84G>A (p.Leu28=)
|
rs2107250695
|
|
NM_000158.4(GBE1):c.873T>C (p.His291=)
|
|
|
NM_000158.4(GBE1):c.876T>A (p.Ala292=)
|
rs778351872
|
|
NM_000158.4(GBE1):c.876T>C (p.Ala292=)
|
|
|
NM_000158.4(GBE1):c.885T>C (p.Asn295=)
|
|
|
NM_000158.4(GBE1):c.891A>G (p.Ala297=)
|
rs2107059577
|
|
NM_000158.4(GBE1):c.90A>G (p.Arg30=)
|
|
|
NM_000158.4(GBE1):c.915G>A (p.Gly305=)
|
|
|
NM_000158.4(GBE1):c.930T>C (p.Tyr310=)
|
|
|
NM_000158.4(GBE1):c.93C>G (p.Leu31=)
|
|
|
NM_000158.4(GBE1):c.942A>G (p.Gly314=)
|
rs2107059484
|
|
NM_000158.4(GBE1):c.945T>C (p.Pro315=)
|
rs2107059475
|
|
NM_000158.4(GBE1):c.951G>A (p.Gly317=)
|
rs1704704915
|
|
NM_000158.4(GBE1):c.969T>C (p.Asp323=)
|
rs555689284
|
|
NM_000158.4(GBE1):c.992+14A>G
|
|
|
NM_000158.4(GBE1):c.992+18A>G
|
|
|
NM_000158.4(GBE1):c.993-10T>C
|
rs2106957202
|
|
NM_000158.4(GBE1):c.993-13T>C
|
|
|
NM_000158.4(GBE1):c.993-14C>T
|
|
|
NM_000158.4(GBE1):c.993-17T>A
|
|
|
NM_000158.4(GBE1):c.993-17T>C
|
|
|
NM_000158.4(GBE1):c.993-20A>C
|
|
|
NM_000158.4(GBE1):c.993-7A>T
|
rs1703919275
|
|
NM_000158.4(GBE1):c.993-9A>G
|
rs2106957192
|
|
NM_000158.4(GBE1):c.993-9A>T
|
rs2106957192
|
|
NM_000158.4(GBE1):c.99G>A (p.Glu33=)
|
rs2107250624
|
|
NM_000158.4(GBE1):c.9T>G (p.Ala3=)
|
|
|
NM_000181.4(GUSB):c.1002C>T (p.Ser334=)
|
rs1166045525
|
|
NM_000181.4(GUSB):c.1026T>G (p.Pro342=)
|
|
|
NM_000181.4(GUSB):c.1038C>T (p.His346=)
|
|
|
NM_000181.4(GUSB):c.1044C>T (p.Val348=)
|
|
|
NM_000181.4(GUSB):c.1056G>A (p.Glu352=)
|
|
|
NM_000181.4(GUSB):c.1065+11G>A
|
|
|
NM_000181.4(GUSB):c.1065+18G>A
|
|
|
NM_000181.4(GUSB):c.1066-11C>T
|
|
|
NM_000181.4(GUSB):c.1066-20T>C
|
|
|
NM_000181.4(GUSB):c.1066-4del
|
|
|
NM_000181.4(GUSB):c.1066-6T>C
|
|
|
NM_000181.4(GUSB):c.1066-6_1066-5del
|
|
|
NM_000181.4(GUSB):c.1066-7C>A
|
|
|
NM_000181.4(GUSB):c.1066-9A>G
|
|
|
NM_000181.4(GUSB):c.1077G>A (p.Lys359=)
|
|
|
NM_000181.4(GUSB):c.1083C>T (p.Phe361=)
|
|
|
NM_000181.4(GUSB):c.1092G>A (p.Pro364=)
|
|
|
NM_000181.4(GUSB):c.1096C>T (p.Leu366=)
|
|
|
NM_000181.4(GUSB):c.1098G>A (p.Leu366=)
|
|
|
NM_000181.4(GUSB):c.1116G>A (p.Leu372=)
|
|
|
NM_000181.4(GUSB):c.1119T>G (p.Leu373=)
|
|
|
NM_000181.4(GUSB):c.111G>A (p.Glu37=)
|
|
|
NM_000181.4(GUSB):c.1134C>T (p.Ala378=)
|
|
|
NM_000181.4(GUSB):c.1143C>T (p.Phe381=)
|
|
|
NM_000181.4(GUSB):c.1149C>T (p.Thr383=)
|
|
|
NM_000181.4(GUSB):c.114C>T (p.Cys38=)
|
|
|
NM_000181.4(GUSB):c.1161C>G (p.Pro387=)
|
rs1791437300
|
|
NM_000181.4(GUSB):c.1167A>C (p.Ala389=)
|
|
|
NM_000181.4(GUSB):c.1167A>G (p.Ala389=)
|
|
|
NM_000181.4(GUSB):c.117G>A (p.Lys39=)
|
|
|
NM_000181.4(GUSB):c.1182G>A (p.Gln394=)
|
|
|
NM_000181.4(GUSB):c.120G>A (p.Glu40=)
|
|
|
NM_000181.4(GUSB):c.1227C>T (p.Gly409=)
|
|
|
NM_000181.4(GUSB):c.1230G>C (p.Val410=)
|
|
|
NM_000181.4(GUSB):c.1239G>A (p.Ala413=)
|
|
|
NM_000181.4(GUSB):c.1244+15T>C
|
|
|
NM_000181.4(GUSB):c.1244+16G>A
|
|
|
NM_000181.4(GUSB):c.1244+19C>T
|
|
|
NM_000181.4(GUSB):c.1244+20C>G
|
|
|
NM_000181.4(GUSB):c.1245-11C>T
|
|
|
NM_000181.4(GUSB):c.1245-14C>T
|
|
|
NM_000181.4(GUSB):c.1245-19C>A
|
|
|
NM_000181.4(GUSB):c.1245-19C>T
|
rs995961802
|
|
NM_000181.4(GUSB):c.1245-5C>T
|
|
|
NM_000181.4(GUSB):c.1245-8G>A
|
|
|
NM_000181.4(GUSB):c.1275C>T (p.His425=)
|
|
|
NM_000181.4(GUSB):c.129C>A (p.Gly43=)
|
|
|
NM_000181.4(GUSB):c.12G>A (p.Gly4=)
|
|
|
NM_000181.4(GUSB):c.1320C>T (p.His440=)
|
|
|
NM_000181.4(GUSB):c.1323C>T (p.Pro441=)
|
|
|
NM_000181.4(GUSB):c.1326G>C (p.Ala442=)
|
|
|
NM_000181.4(GUSB):c.1341T>C (p.Ser447=)
|
|
|
NM_000181.4(GUSB):c.1350C>T (p.Asn450=)
|
|
|
NM_000181.4(GUSB):c.1356T>C (p.Pro452=)
|
|
|
NM_000181.4(GUSB):c.1374T>C (p.Ser458=)
|
|
|
NM_000181.4(GUSB):c.1383C>T (p.Tyr461=)
|
|
|
NM_000181.4(GUSB):c.138C>T (p.Ser46=)
|
|
|
NM_000181.4(GUSB):c.1391+11C>T
|
|
|
NM_000181.4(GUSB):c.1391+12C>T
|
|
|
NM_000181.4(GUSB):c.1391+13T>G
|
|
|
NM_000181.4(GUSB):c.1391+14C>T
|
|
|
NM_000181.4(GUSB):c.1391+17T>C
|
|
|
NM_000181.4(GUSB):c.1391+18G>C
|
|
|
NM_000181.4(GUSB):c.1392-12T>C
|
|
|
NM_000181.4(GUSB):c.1392-14C>T
|
|
|
NM_000181.4(GUSB):c.1401C>A (p.Ile467=)
|
|
|
NM_000181.4(GUSB):c.1401C>T (p.Ile467=)
|
|
|
NM_000181.4(GUSB):c.1417T>C (p.Leu473=)
|
|
|
NM_000181.4(GUSB):c.141C>T (p.Phe47=)
|
|
|
NM_000181.4(GUSB):c.1425C>T (p.Pro475=)
|
rs1791109537
|
|
NM_000181.4(GUSB):c.1431G>A (p.Arg477=)
|
|
|
NM_000181.4(GUSB):c.1431G>T (p.Arg477=)
|
|
|
NM_000181.4(GUSB):c.1455T>C (p.Ser485=)
|
|
|
NM_000181.4(GUSB):c.1476+10G>A
|
|
|
NM_000181.4(GUSB):c.1476+13G>T
|
|
|
NM_000181.4(GUSB):c.1476+15C>T
|
|
|
NM_000181.4(GUSB):c.1476+16C>T
|
|
|
NM_000181.4(GUSB):c.1476+18C>A
|
|
|
NM_000181.4(GUSB):c.1476+18C>T
|
|
|
NM_000181.4(GUSB):c.1476+20C>A
|
|
|
NM_000181.4(GUSB):c.1476+20C>T
|
|
|
NM_000181.4(GUSB):c.1477-16G>T
|
|
|
NM_000181.4(GUSB):c.1477-18C>T
|
|
|
NM_000181.4(GUSB):c.1477-5C>T
|
|
|
NM_000181.4(GUSB):c.1477-9T>C
|
|
|
NM_000181.4(GUSB):c.1506C>T (p.Asn502=)
|
|
|
NM_000181.4(GUSB):c.1509C>T (p.Ser503=)
|
|
|
NM_000181.4(GUSB):c.1515C>T (p.Tyr505=)
|
|
|
NM_000181.4(GUSB):c.1527C>T (p.His509=)
|
rs201928248
|
|
NM_000181.4(GUSB):c.1530C>T (p.Asp510=)
|
|
|
NM_000181.4(GUSB):c.1533C>T (p.Tyr511=)
|
|
|
NM_000181.4(GUSB):c.1536G>A (p.Gly512=)
|
rs1282778009
|
|
NM_000181.4(GUSB):c.1581C>T (p.Asn527=)
|
|
|
NM_000181.4(GUSB):c.15G>A (p.Ser5=)
|
|
|
NM_000181.4(GUSB):c.1602G>A (p.Lys534=)
|
|
|
NM_000181.4(GUSB):c.1605C>T (p.Pro535=)
|
|
|
NM_000181.4(GUSB):c.1635G>A (p.Thr545=)
|
|
|
NM_000181.4(GUSB):c.1644G>A (p.Gly548=)
|
|
|
NM_000181.4(GUSB):c.1653+15G>A
|
|
|
NM_000181.4(GUSB):c.1653+17T>C
|
|
|
NM_000181.4(GUSB):c.1654-10T>C
|
|
|
NM_000181.4(GUSB):c.1654-10T>G
|
|
|
NM_000181.4(GUSB):c.1654-11T>C
|
|
|
NM_000181.4(GUSB):c.1654-12C>G
|
|
|
NM_000181.4(GUSB):c.1654-12C>T
|
|
|
NM_000181.4(GUSB):c.1654-14G>A
|
|
|
NM_000181.4(GUSB):c.1654-14G>T
|
|
|
NM_000181.4(GUSB):c.1654-9G>A
|
|
|
NM_000181.4(GUSB):c.1663C>T (p.Leu555=)
|
|
|
NM_000181.4(GUSB):c.1704G>A (p.Gln568=)
|
|
|
NM_000181.4(GUSB):c.1770C>T (p.Ala590=)
|
|
|
NM_000181.4(GUSB):c.177C>T (p.Phe59=)
|
|
|
NM_000181.4(GUSB):c.1782T>C (p.Thr594=)
|
|
|
NM_000181.4(GUSB):c.1782T>G (p.Thr594=)
|
|
|
NM_000181.4(GUSB):c.1789+10A>C
|
|
|
NM_000181.4(GUSB):c.1790-11T>C
|
|
|
NM_000181.4(GUSB):c.1790-11T>G
|
|
|
NM_000181.4(GUSB):c.1790-18T>C
|
|
|
NM_000181.4(GUSB):c.1790-20T>A
|
|
|
NM_000181.4(GUSB):c.1790-21_1790-20del
|
|
|
NM_000181.4(GUSB):c.1790-4G>T
|
rs879010457
|
|
NM_000181.4(GUSB):c.1794G>A (p.Pro598=)
|
|
|
NM_000181.4(GUSB):c.1797G>A (p.Thr599=)
|
|
|
NM_000181.4(GUSB):c.1804C>T (p.Leu602=)
|
|
|
NM_000181.4(GUSB):c.1809G>A (p.Gly603=)
|
|
|
NM_000181.4(GUSB):c.180G>A (p.Glu60=)
|
|
|
NM_000181.4(GUSB):c.1854A>G (p.Ala618=)
|
|
|
NM_000181.4(GUSB):c.1857G>C (p.Ala619=)
|
|
|
NM_000181.4(GUSB):c.1896A>G (p.Glu632=)
|
|
|
NM_000181.4(GUSB):c.18G>A (p.Ala6=)
|
|
|
NM_000181.4(GUSB):c.18G>C (p.Ala6=)
|
|
|
NM_000181.4(GUSB):c.1905T>C (p.Tyr635=)
|
|
|
NM_000181.4(GUSB):c.1911C>T (p.His637=)
|
|
|
NM_000181.4(GUSB):c.1916_1918dup (p.Val639dup)
|
rs770237165
|
|
NM_000181.4(GUSB):c.1926A>G (p.Ser642=)
|
|
|
NM_000181.4(GUSB):c.192C>T (p.Tyr64=)
|
|
|
NM_000181.4(GUSB):c.1945C>T (p.Leu649=)
|
|
|
NM_000181.4(GUSB):c.1946_1947inv (p.Leu649Pro)
|
|
|
NM_000181.4(GUSB):c.201G>T (p.Pro67=)
|
|
|
NM_000181.4(GUSB):c.210+13G>A
|
|
|
NM_000181.4(GUSB):c.210+16A>C
|
|
|
NM_000181.4(GUSB):c.210+20C>T
|
|
|
NM_000181.4(GUSB):c.211-15C>T
|
|
|
NM_000181.4(GUSB):c.211-16G>A
|
|
|
NM_000181.4(GUSB):c.211-17G>A
|
|
|
NM_000181.4(GUSB):c.211-17G>C
|
rs749802416
|
|
NM_000181.4(GUSB):c.211-18C>G
|
|
|
NM_000181.4(GUSB):c.211-20C>G
|
|
|
NM_000181.4(GUSB):c.211-20C>T
|
|
|
NM_000181.4(GUSB):c.211-7T>C
|
rs1299733589
|
|
NM_000181.4(GUSB):c.222C>G (p.Thr74=)
|
|
|
NM_000181.4(GUSB):c.240C>T (p.Pro80=)
|
|
|
NM_000181.4(GUSB):c.24C>T (p.Ala8=)
|
|
|
NM_000181.4(GUSB):c.252T>C (p.Asn84=)
|
|
|
NM_000181.4(GUSB):c.288C>T (p.Val96=)
|
|
|
NM_000181.4(GUSB):c.297G>A (p.Val99=)
|
|
|
NM_000181.4(GUSB):c.303C>T (p.Tyr101=)
|
|
|
NM_000181.4(GUSB):c.306A>G (p.Glu102=)
|
rs2116042007
|
|
NM_000181.4(GUSB):c.309G>A (p.Arg103=)
|
|
|
NM_000181.4(GUSB):c.30G>A (p.Ala10=)
|
|
|
NM_000181.4(GUSB):c.342C>T (p.Asp114=)
|
|
|
NM_000181.4(GUSB):c.366G>A (p.Arg122=)
|
|
|
NM_000181.4(GUSB):c.36C>T (p.Leu12=)
|
|
|
NM_000181.4(GUSB):c.390C>T (p.Ala130=)
|
|
|
NM_000181.4(GUSB):c.393C>T (p.Ile131=)
|
|
|
NM_000181.4(GUSB):c.396+13A>G
|
|
|
NM_000181.4(GUSB):c.396+14G>A
|
|
|
NM_000181.4(GUSB):c.396+15G>C
|
|
|
NM_000181.4(GUSB):c.396+17G>A
|
|
|
NM_000181.4(GUSB):c.396+8C>T
|
|
|
NM_000181.4(GUSB):c.396+9G>A
|
|
|
NM_000181.4(GUSB):c.397-10G>A
|
|
|
NM_000181.4(GUSB):c.397-10G>C
|
|
|
NM_000181.4(GUSB):c.397-15C>T
|
|
|
NM_000181.4(GUSB):c.397-19G>T
|
|
|
NM_000181.4(GUSB):c.397-9del
|
|
|
NM_000181.4(GUSB):c.408G>A (p.Gly136=)
|
|
|
NM_000181.4(GUSB):c.411C>T (p.Val137=)
|
|
|
NM_000181.4(GUSB):c.417G>A (p.Thr139=)
|
|
|
NM_000181.4(GUSB):c.420A>C (p.Leu140=)
|
|
|
NM_000181.4(GUSB):c.429G>A (p.Glu143=)
|
|
|
NM_000181.4(GUSB):c.42G>T (p.Pro14=)
|
|
|
NM_000181.4(GUSB):c.444C>T (p.Pro148=)
|
|
|
NM_000181.4(GUSB):c.453C>G (p.Ala151=)
|
rs144397476
|
|
NM_000181.4(GUSB):c.453C>T (p.Ala151=)
|
|
|
NM_000181.4(GUSB):c.456C>T (p.Asp152=)
|
rs1420034681
|
|
NM_000181.4(GUSB):c.45G>A (p.Leu15=)
|
rs886062404
|
|
NM_000181.4(GUSB):c.462C>T (p.Ser154=)
|
|
|
NM_000181.4(GUSB):c.466C>T (p.Leu156=)
|
rs1410086265
|
|
NM_000181.4(GUSB):c.484C>T (p.Leu162=)
|
|
|
NM_000181.4(GUSB):c.486G>A (p.Leu162=)
|
|
|
NM_000181.4(GUSB):c.48G>A (p.Leu16=)
|
|
|
NM_000181.4(GUSB):c.492C>T (p.Ser164=)
|
|
|
NM_000181.4(GUSB):c.501A>C (p.Arg167=)
|
|
|
NM_000181.4(GUSB):c.525A>G (p.Thr175=)
|
|
|
NM_000181.4(GUSB):c.552G>A (p.Gly184=)
|
rs768029322
|
|
NM_000181.4(GUSB):c.555C>G (p.Thr185=)
|
|
|
NM_000181.4(GUSB):c.555C>T (p.Thr185=)
|
|
|
NM_000181.4(GUSB):c.570T>C (p.Thr190=)
|
|
|
NM_000181.4(GUSB):c.57C>T (p.Cys19=)
|
rs573989102
|
|
NM_000181.4(GUSB):c.581+10A>G
|
rs1233559582
|
|
NM_000181.4(GUSB):c.581+12C>G
|
|
|
NM_000181.4(GUSB):c.581+17C>T
|
|
|
NM_000181.4(GUSB):c.581+20C>T
|
|
|
NM_000181.4(GUSB):c.581+8C>G
|
|
|
NM_000181.4(GUSB):c.582-12C>G
|
|
|
NM_000181.4(GUSB):c.582-12C>T
|
|
|
NM_000181.4(GUSB):c.582-15G>A
|
|
|
NM_000181.4(GUSB):c.582-19C>G
|
|
|
NM_000181.4(GUSB):c.582-20C>G
|
|
|
NM_000181.4(GUSB):c.582-7A>C
|
|
|
NM_000181.4(GUSB):c.582-9C>T
|
|
|
NM_000181.4(GUSB):c.60G>A (p.Ala20=)
|
|
|
NM_000181.4(GUSB):c.612A>G (p.Thr204=)
|
|
|
NM_000181.4(GUSB):c.615T>C (p.Tyr205=)
|
|
|
NM_000181.4(GUSB):c.621C>T (p.Asp207=)
|
|
|
NM_000181.4(GUSB):c.639A>G (p.Gly213=)
|
|
|
NM_000181.4(GUSB):c.657T>G (p.Leu219=)
|
rs764393614
|
|
NM_000181.4(GUSB):c.658C>T (p.Leu220=)
|
|
|
NM_000181.4(GUSB):c.666G>T (p.Thr222=)
|
|
|
NM_000181.4(GUSB):c.66G>A (p.Gly22=)
|
|
|
NM_000181.4(GUSB):c.66G>T (p.Gly22=)
|
|
|
NM_000181.4(GUSB):c.684C>T (p.Ile228=)
|
rs375590538
|
|
NM_000181.4(GUSB):c.696C>T (p.Thr232=)
|
|
|
NM_000181.4(GUSB):c.6C>G (p.Ala2=)
|
|
|
NM_000181.4(GUSB):c.6C>T (p.Ala2=)
|
|
|
NM_000181.4(GUSB):c.708C>T (p.Ser236=)
|
|
|
NM_000181.4(GUSB):c.724+17G>C
|
rs2116026712
|
|
NM_000181.4(GUSB):c.725-11G>A
|
|
|
NM_000181.4(GUSB):c.725-12T>C
|
|
|
NM_000181.4(GUSB):c.725-14C>A
|
|
|
NM_000181.4(GUSB):c.725-18C>A
|
|
|
NM_000181.4(GUSB):c.725-18C>G
|
rs754699640
|
|
NM_000181.4(GUSB):c.725-18C>T
|
|
|
NM_000181.4(GUSB):c.725-18CT[2]
|
rs1173385478
|
|
NM_000181.4(GUSB):c.725-4G>A
|
|
|
NM_000181.4(GUSB):c.725-7C>G
|
|
|
NM_000181.4(GUSB):c.725-8dup
|
rs768444459
|
|
NM_000181.4(GUSB):c.727C>T (p.Leu243=)
|
|
|
NM_000181.4(GUSB):c.729G>A (p.Leu243=)
|
|
|
NM_000181.4(GUSB):c.738C>T (p.Tyr246=)
|
|
|
NM_000181.4(GUSB):c.744C>T (p.Ile248=)
|
|
|
NM_000181.4(GUSB):c.75C>T (p.Gly25=)
|
|
|
NM_000181.4(GUSB):c.762C>T (p.Asn254=)
|
|
|
NM_000181.4(GUSB):c.765G>T (p.Leu255=)
|
rs2115977392
|
|
NM_000181.4(GUSB):c.768C>T (p.Phe256=)
|
|
|
NM_000181.4(GUSB):c.78G>T (p.Gly26=)
|
|
|
NM_000181.4(GUSB):c.792T>C (p.Asp264=)
|
|
|
NM_000181.4(GUSB):c.813G>T (p.Ala271=)
|
|
|
NM_000181.4(GUSB):c.828C>T (p.Thr276=)
|
|
|
NM_000181.4(GUSB):c.873C>T (p.Tyr291=)
|
|
|
NM_000181.4(GUSB):c.87C>T (p.Tyr29=)
|
|
|
NM_000181.4(GUSB):c.882C>T (p.His294=)
|
rs766837276
|
|
NM_000181.4(GUSB):c.906A>G (p.Ser302=)
|
|
|
NM_000181.4(GUSB):c.907T>C (p.Leu303=)
|
|
|
NM_000181.4(GUSB):c.90C>G (p.Pro30=)
|
|
|
NM_000181.4(GUSB):c.90C>T (p.Pro30=)
|
|
|
NM_000181.4(GUSB):c.912+15G>C
|
|
|
NM_000181.4(GUSB):c.912+18C>G
|
|
|
NM_000181.4(GUSB):c.912+19A>G
|
|
|
NM_000181.4(GUSB):c.913-16G>A
|
rs2115962921
|
|
NM_000181.4(GUSB):c.913-17T>C
|
|
|
NM_000181.4(GUSB):c.913-18G>C
|
|
|
NM_000181.4(GUSB):c.927A>C (p.Ala309=)
|
|
|
NM_000181.4(GUSB):c.937C>T (p.Leu313=)
|
|
|
NM_000181.4(GUSB):c.93G>A (p.Gln31=)
|
|
|
NM_000181.4(GUSB):c.942G>A (p.Gly314=)
|
|
|
NM_000181.4(GUSB):c.945T>C (p.Pro315=)
|
|
|
NM_000181.4(GUSB):c.948G>A (p.Val316=)
|
|
|
NM_000181.4(GUSB):c.954C>T (p.Asp318=)
|
|
|
NM_000181.4(GUSB):c.960C>T (p.Tyr320=)
|
|
|
NM_000181.4(GUSB):c.963A>T (p.Thr321=)
|
|
|
NM_000181.4(GUSB):c.966C>A (p.Leu322=)
|
|
|
NM_000181.4(GUSB):c.99C>T (p.Ser33=)
|
|
|
NM_000181.4(GUSB):c.9G>T (p.Arg3=)
|
|
|
NM_000199.5(SGSH):c.1005C>T (p.Ile335=)
|
|
|
NM_000199.5(SGSH):c.1008T>C (p.Phe336=)
|
rs2144698448
|
|
NM_000199.5(SGSH):c.1011C>T (p.Gly337=)
|
|
|
NM_000199.5(SGSH):c.1014G>A (p.Ser338=)
|
rs1329179099
|
|
NM_000199.5(SGSH):c.1014G>T (p.Ser338=)
|
|
|
NM_000199.5(SGSH):c.1020C>T (p.Thr340=)
|
|
|
NM_000199.5(SGSH):c.102C>G (p.Gly34=)
|
|
|
NM_000199.5(SGSH):c.1036C>A (p.Arg346=)
|
|
|
NM_000199.5(SGSH):c.1038G>A (p.Arg346=)
|
|
|
NM_000199.5(SGSH):c.1041C>A (p.Ser347=)
|
|
|
NM_000199.5(SGSH):c.1053G>C (p.Ala351=)
|
rs757723989
|
|
NM_000199.5(SGSH):c.1059G>A (p.Glu353=)
|
|
|
NM_000199.5(SGSH):c.1062C>A (p.Ala354=)
|
|
|
NM_000199.5(SGSH):c.1062C>G (p.Ala354=)
|
rs150750383
|
|
NM_000199.5(SGSH):c.1068C>G (p.Pro356=)
|
rs2144696905
|
|
NM_000199.5(SGSH):c.1068C>T (p.Pro356=)
|
|
|
NM_000199.5(SGSH):c.1080C>A (p.Thr360=)
|
|
|
NM_000199.5(SGSH):c.1083C>G (p.Val361=)
|
rs1163683351
|
|
NM_000199.5(SGSH):c.1089C>T (p.Gly363=)
|
|
|
NM_000199.5(SGSH):c.108G>A (p.Glu36=)
|
|
|
NM_000199.5(SGSH):c.1095G>A (p.Gln365=)
|
rs1567915786
|
|
NM_000199.5(SGSH):c.1098C>T (p.Ser366=)
|
rs1344726489
|
|
NM_000199.5(SGSH):c.1110C>A (p.Val370=)
|
|
|
NM_000199.5(SGSH):c.1110C>T (p.Val370=)
|
|
|
NM_000199.5(SGSH):c.1122C>T (p.Tyr374=)
|
|
|
NM_000199.5(SGSH):c.1125C>T (p.Pro375=)
|
|
|
NM_000199.5(SGSH):c.1131C>T (p.Arg377=)
|
|
|
NM_000199.5(SGSH):c.1140G>A (p.Gln380=)
|
rs2144695233
|
|
NM_000199.5(SGSH):c.1149C>T (p.His383=)
|
rs1312597739
|
|
NM_000199.5(SGSH):c.1152C>T (p.Phe384=)
|
|
|
NM_000199.5(SGSH):c.117G>T (p.Ala39=)
|
rs201132655
|
|
NM_000199.5(SGSH):c.1185C>G (p.Pro395=)
|
|
|
NM_000199.5(SGSH):c.120C>T (p.Tyr40=)
|
|
|
NM_000199.5(SGSH):c.1215A>C (p.Ser405=)
|
rs1352657640
|
|
NM_000199.5(SGSH):c.1218C>T (p.Pro406=)
|
|
|
NM_000199.5(SGSH):c.1221C>T (p.Thr407=)
|
rs1598738043
|
|
NM_000199.5(SGSH):c.1233C>T (p.Leu411=)
|
|
|
NM_000199.5(SGSH):c.1251T>C (p.Ala417=)
|
rs2144692797
|
|
NM_000199.5(SGSH):c.1263G>C (p.Thr421=)
|
rs140931352
|
|
NM_000199.5(SGSH):c.126C>T (p.Asn42=)
|
|
|
NM_000199.5(SGSH):c.1278C>T (p.Asp426=)
|
|
|
NM_000199.5(SGSH):c.1284T>C (p.Arg428=)
|
|
|
NM_000199.5(SGSH):c.1299G>A (p.Arg433=)
|
|
|
NM_000199.5(SGSH):c.12C>A (p.Pro4=)
|
rs921772690
|
|
NM_000199.5(SGSH):c.12C>G (p.Pro4=)
|
rs921772690
|
|
NM_000199.5(SGSH):c.12C>T (p.Pro4=)
|
rs921772690
|
|
NM_000199.5(SGSH):c.1305C>T (p.Arg435=)
|
|
|
NM_000199.5(SGSH):c.1320C>T (p.Asp440=)
|
rs751683275
|
|
NM_000199.5(SGSH):c.1323G>A (p.Arg441=)
|
|
|
NM_000199.5(SGSH):c.1332C>T (p.Asp444=)
|
|
|
NM_000199.5(SGSH):c.1338C>T (p.His446=)
|
rs762208419
|
|
NM_000199.5(SGSH):c.1341G>A (p.Glu447=)
|
|
|
NM_000199.5(SGSH):c.1344C>T (p.Thr448=)
|
|
|
NM_000199.5(SGSH):c.1356C>A (p.Ala452=)
|
rs2041601835
|
|
NM_000199.5(SGSH):c.135C>A (p.Ile45=)
|
|
|
NM_000199.5(SGSH):c.1374T>C (p.Ala458=)
|
|
|
NM_000199.5(SGSH):c.1380T>A (p.Leu460=)
|
rs1298944219
|
|
NM_000199.5(SGSH):c.1383G>A (p.Leu461=)
|
rs2144689720
|
|
NM_000199.5(SGSH):c.1386G>A (p.Glu462=)
|
rs2144689644
|
|
NM_000199.5(SGSH):c.1395G>A (p.Arg465=)
|
|
|
NM_000199.5(SGSH):c.1395G>C (p.Arg465=)
|
rs764491308
|
|
NM_000199.5(SGSH):c.1410G>A (p.Lys470=)
|
rs977948935
|
|
NM_000199.5(SGSH):c.141C>A (p.Thr47=)
|
|
|
NM_000199.5(SGSH):c.1422G>A (p.Glu474=)
|
|
|
NM_000199.5(SGSH):c.1425C>A (p.Thr475=)
|
|
|
NM_000199.5(SGSH):c.1425C>G (p.Thr475=)
|
|
|
NM_000199.5(SGSH):c.1431C>T (p.Asp477=)
|
|
|
NM_000199.5(SGSH):c.1434C>A (p.Pro478=)
|
|
|
NM_000199.5(SGSH):c.1434C>T (p.Pro478=)
|
|
|
NM_000199.5(SGSH):c.1440G>T (p.Val480=)
|
|
|
NM_000199.5(SGSH):c.1449C>T (p.Pro483=)
|
rs779836312
|
|
NM_000199.5(SGSH):c.144G>T (p.Pro48=)
|
rs145970971
|
|
NM_000199.5(SGSH):c.1458C>A (p.Val486=)
|
|
|
NM_000199.5(SGSH):c.1467G>A (p.Glu489=)
|
rs2144687765
|
|
NM_000199.5(SGSH):c.1470G>A (p.Lys490=)
|
|
|
NM_000199.5(SGSH):c.1473C>G (p.Leu491=)
|
rs1436483872
|
|
NM_000199.5(SGSH):c.1473C>T (p.Leu491=)
|
|
|
NM_000199.5(SGSH):c.1476T>C (p.Ser492=)
|
rs769228670
|
|
NM_000199.5(SGSH):c.1491C>T (p.Pro497=)
|
|
|
NM_000199.5(SGSH):c.1503G>A (p.Glu501=)
|
|
|
NM_000199.5(SGSH):c.154G>A (p.Ala52Thr)
|
rs551094331
|
|
NM_000199.5(SGSH):c.15G>A (p.Val5=)
|
rs1040195143
|
|
NM_000199.5(SGSH):c.15G>C (p.Val5=)
|
rs1040195143
|
|
NM_000199.5(SGSH):c.15G>T (p.Val5=)
|
rs1040195143
|
|
NM_000199.5(SGSH):c.168C>G (p.Arg56=)
|
|
|
NM_000199.5(SGSH):c.174C>T (p.Leu58=)
|
rs1278899264
|
|
NM_000199.5(SGSH):c.177C>G (p.Leu59=)
|
|
|
NM_000199.5(SGSH):c.180T>C (p.Phe60=)
|
|
|
NM_000199.5(SGSH):c.183C>G (p.Arg61=)
|
rs561475181
|
|
NM_000199.5(SGSH):c.183C>T (p.Arg61=)
|
|
|
NM_000199.5(SGSH):c.189C>T (p.Ala63=)
|
|
|
NM_000199.5(SGSH):c.18C>T (p.Pro6=)
|
|
|
NM_000199.5(SGSH):c.192C>T (p.Phe64=)
|
|
|
NM_000199.5(SGSH):c.195C>G (p.Thr65=)
|
|
|
NM_000199.5(SGSH):c.195C>T (p.Thr65=)
|
rs2144781531
|
|
NM_000199.5(SGSH):c.198G>A (p.Ser66=)
|
|
|
NM_000199.5(SGSH):c.198G>C (p.Ser66=)
|
|
|
NM_000199.5(SGSH):c.198G>T (p.Ser66=)
|
rs771397375
|
|
NM_000199.5(SGSH):c.210C>T (p.Cys70=)
|
rs2144781434
|
|
NM_000199.5(SGSH):c.21C>G (p.Ala7=)
|
|
|
NM_000199.5(SGSH):c.222C>A (p.Arg74=)
|
|
|
NM_000199.5(SGSH):c.222C>T (p.Arg74=)
|
rs768056322
|
|
NM_000199.5(SGSH):c.225C>T (p.Ala75=)
|
|
|
NM_000199.5(SGSH):c.237T>C (p.Thr79=)
|
|
|
NM_000199.5(SGSH):c.246C>G (p.Pro82=)
|
|
|
NM_000199.5(SGSH):c.249+14G>A
|
|
|
NM_000199.5(SGSH):c.249+14G>T
|
|
|
NM_000199.5(SGSH):c.249+15G>A
|
|
|
NM_000199.5(SGSH):c.249+15G>T
|
rs941020879
|
|
NM_000199.5(SGSH):c.249+17G>A
|
|
|
NM_000199.5(SGSH):c.249+18G>A
|
|
|
NM_000199.5(SGSH):c.249+19G>T
|
rs372274963
|
|
NM_000199.5(SGSH):c.249+24G>A
|
|
|
NM_000199.5(SGSH):c.249+28G>A
|
|
|
NM_000199.5(SGSH):c.249+8G>A
|
|
|
NM_000199.5(SGSH):c.24C>T (p.Cys8=)
|
rs2144833062
|
|
NM_000199.5(SGSH):c.250-13C>T
|
|
|
NM_000199.5(SGSH):c.250-15C>G
|
rs369082713
|
|
NM_000199.5(SGSH):c.250-7C>T
|
|
|
NM_000199.5(SGSH):c.250-8G>T
|
rs1043560351
|
|
NM_000199.5(SGSH):c.261G>A (p.Gly87=)
|
|
|
NM_000199.5(SGSH):c.270G>A (p.Gly90=)
|
|
|
NM_000199.5(SGSH):c.273G>A (p.Leu91=)
|
rs2144755014
|
|
NM_000199.5(SGSH):c.276C>T (p.His92=)
|
|
|
NM_000199.5(SGSH):c.282C>T (p.Asp94=)
|
rs748857638
|
|
NM_000199.5(SGSH):c.288C>T (p.His96=)
|
|
|
NM_000199.5(SGSH):c.300C>A (p.Ser100=)
|
|
|
NM_000199.5(SGSH):c.30_31delinsTT (p.Ala10_Leu11=)
|
rs2144832917
|
|
NM_000199.5(SGSH):c.31C>T (p.Leu11=)
|
|
|
NM_000199.5(SGSH):c.321G>A (p.Leu107=)
|
|
|
NM_000199.5(SGSH):c.333C>T (p.Leu111=)
|
|
|
NM_000199.5(SGSH):c.336C>T (p.Ser112=)
|
|
|
NM_000199.5(SGSH):c.345T>C (p.Gly115=)
|
|
|
NM_000199.5(SGSH):c.345T>G (p.Gly115=)
|
rs920720873
|
|
NM_000199.5(SGSH):c.348G>A (p.Val116=)
|
rs1242737193
|
|
NM_000199.5(SGSH):c.351C>T (p.Arg117=)
|
|
|
NM_000199.5(SGSH):c.355+16C>G
|
|
|
NM_000199.5(SGSH):c.355+16C>T
|
|
|
NM_000199.5(SGSH):c.355+17G>A
|
|
|
NM_000199.5(SGSH):c.355+20G>A
|
|
|
NM_000199.5(SGSH):c.356-12C>T
|
|
|
NM_000199.5(SGSH):c.356-14C>G
|
|
|
NM_000199.5(SGSH):c.356-14del
|
|
|
NM_000199.5(SGSH):c.356-16CT[2]
|
|
|
NM_000199.5(SGSH):c.356-18G>A
|
|
|
NM_000199.5(SGSH):c.356-18G>T
|
|
|
NM_000199.5(SGSH):c.356-5C>T
|
rs1240953762
|
|
NM_000199.5(SGSH):c.357C>T (p.Gly119=)
|
|
|
NM_000199.5(SGSH):c.360C>T (p.Ile120=)
|
rs1314987469
|
|
NM_000199.5(SGSH):c.372G>A (p.Lys124=)
|
|
|
NM_000199.5(SGSH):c.378G>A (p.Val126=)
|
rs771878830
|
|
NM_000199.5(SGSH):c.378G>T (p.Val126=)
|
|
|
NM_000199.5(SGSH):c.381G>A (p.Gly127=)
|
rs2144749895
|
|
NM_000199.5(SGSH):c.390C>G (p.Thr130=)
|
rs111761143
|
|
NM_000199.5(SGSH):c.399G>C (p.Pro133=)
|
|
|
NM_000199.5(SGSH):c.39A>G (p.Leu13=)
|
rs2144832681
|
|
NM_000199.5(SGSH):c.408T>C (p.Phe136=)
|
|
|
NM_000199.5(SGSH):c.411G>C (p.Ala137=)
|
|
|
NM_000199.5(SGSH):c.414C>T (p.Tyr138=)
|
rs2041820947
|
|
NM_000199.5(SGSH):c.417G>C (p.Thr139=)
|
rs142729872
|
|
NM_000199.5(SGSH):c.42C>T (p.Val14=)
|
rs1598772270
|
|
NM_000199.5(SGSH):c.435C>A (p.Val145=)
|
|
|
NM_000199.5(SGSH):c.435C>T (p.Val145=)
|
rs2144749023
|
|
NM_000199.5(SGSH):c.459T>C (p.Thr153=)
|
|
|
NM_000199.5(SGSH):c.45G>T (p.Leu15=)
|
|
|
NM_000199.5(SGSH):c.474C>G (p.Leu158=)
|
rs75828254
|
|
NM_000199.5(SGSH):c.474C>T (p.Leu158=)
|
rs75828254
|
|
NM_000199.5(SGSH):c.477C>G (p.Val159=)
|
|
|
NM_000199.5(SGSH):c.480G>T (p.Arg160=)
|
rs2144748453
|
|
NM_000199.5(SGSH):c.48G>A (p.Gly16=)
|
rs925785551
|
|
NM_000199.5(SGSH):c.48G>C (p.Gly16=)
|
rs925785551
|
|
NM_000199.5(SGSH):c.495T>G (p.Thr165=)
|
|
|
NM_000199.5(SGSH):c.506+10G>C
|
rs549782167
|
|
NM_000199.5(SGSH):c.506+11G>A
|
|
|
NM_000199.5(SGSH):c.506+12G>A
|
rs2144747927
|
|
NM_000199.5(SGSH):c.506+13G>A
|
rs201177560
|
|
NM_000199.5(SGSH):c.506+13G>T
|
rs201177560
|
|
NM_000199.5(SGSH):c.506+14C>A
|
|
|
NM_000199.5(SGSH):c.506+14C>G
|
|
|
NM_000199.5(SGSH):c.506+14C>T
|
|
|
NM_000199.5(SGSH):c.506+16C>T
|
rs2041815351
|
|
NM_000199.5(SGSH):c.506+18T>C
|
|
|
NM_000199.5(SGSH):c.506+7G>T
|
rs2144748073
|
|
NM_000199.5(SGSH):c.506+9C>G
|
rs376523398
|
|
NM_000199.5(SGSH):c.507-12C>T
|
|
|
NM_000199.5(SGSH):c.507-14C>A
|
|
|
NM_000199.5(SGSH):c.507-14C>T
|
|
|
NM_000199.5(SGSH):c.507-15C>A
|
|
|
NM_000199.5(SGSH):c.507-18G>A
|
|
|
NM_000199.5(SGSH):c.519C>T (p.Leu173=)
|
|
|
NM_000199.5(SGSH):c.528C>T (p.Ala176=)
|
|
|
NM_000199.5(SGSH):c.540C>A (p.Pro180=)
|
rs749721134
|
|
NM_000199.5(SGSH):c.540C>G (p.Pro180=)
|
rs749721134
|
|
NM_000199.5(SGSH):c.564C>G (p.Pro188=)
|
rs1378805024
|
|
NM_000199.5(SGSH):c.57G>A (p.Arg19=)
|
|
|
NM_000199.5(SGSH):c.591T>C (p.Phe197=)
|
|
|
NM_000199.5(SGSH):c.633C>G (p.Thr211=)
|
|
|
NM_000199.5(SGSH):c.633C>T (p.Thr211=)
|
rs187147954
|
|
NM_000199.5(SGSH):c.636C>G (p.Pro212=)
|
|
|
NM_000199.5(SGSH):c.648C>T (p.Asp216=)
|
rs2144742092
|
|
NM_000199.5(SGSH):c.654G>A (p.Leu218=)
|
|
|
NM_000199.5(SGSH):c.658G>T (p.Val220Leu)
|
rs150508741
|
|
NM_000199.5(SGSH):c.660G>A (p.Val220=)
|
|
|
NM_000199.5(SGSH):c.660G>C (p.Val220=)
|
rs1168963563
|
|
NM_000199.5(SGSH):c.663+10C>T
|
rs2144741673
|
|
NM_000199.5(SGSH):c.663+17T>G
|
|
|
NM_000199.5(SGSH):c.663+17_663+18inv
|
|
|
NM_000199.5(SGSH):c.663+20G>A
|
|
|
NM_000199.5(SGSH):c.663+9G>T
|
|
|
NM_000199.5(SGSH):c.664-11G>A
|
rs761740352
|
|
NM_000199.5(SGSH):c.664-15C>T
|
|
|
NM_000199.5(SGSH):c.664-19T>C
|
|
|
NM_000199.5(SGSH):c.664-20C>G
|
|
|
NM_000199.5(SGSH):c.664-4C>A
|
rs1197427868
|
|
NM_000199.5(SGSH):c.664-4C>G
|
rs1197427868
|
|
NM_000199.5(SGSH):c.664-4C>T
|
|
|
NM_000199.5(SGSH):c.664-7G>A
|
rs2144736499
|
|
NM_000199.5(SGSH):c.666G>A (p.Val222=)
|
rs2144736428
|
|
NM_000199.5(SGSH):c.66C>G (p.Pro22=)
|
rs2042100337
|
|
NM_000199.5(SGSH):c.672C>T (p.Tyr224=)
|
rs2144736338
|
|
NM_000199.5(SGSH):c.681C>T (p.Pro227=)
|
|
|
NM_000199.5(SGSH):c.687C>A (p.Thr229=)
|
rs778017231
|
|
NM_000199.5(SGSH):c.690G>A (p.Pro230=)
|
rs781715169
|
|
NM_000199.5(SGSH):c.696C>G (p.Ala232=)
|
|
|
NM_000199.5(SGSH):c.699A>C (p.Arg233=)
|
rs1361941081
|
|
NM_000199.5(SGSH):c.69G>A (p.Arg23=)
|
|
|
NM_000199.5(SGSH):c.702C>A (p.Ala234=)
|
|
|
NM_000199.5(SGSH):c.711C>A (p.Ala237=)
|
|
|
NM_000199.5(SGSH):c.714T>C (p.Ala238=)
|
|
|
NM_000199.5(SGSH):c.723C>G (p.Thr241=)
|
|
|
NM_000199.5(SGSH):c.726C>A (p.Thr242=)
|
rs1347877363
|
|
NM_000199.5(SGSH):c.732C>A (p.Gly244=)
|
rs1161386511
|
|
NM_000199.5(SGSH):c.745+10C>T
|
|
|
NM_000199.5(SGSH):c.745+11A>G
|
|
|
NM_000199.5(SGSH):c.745+15C>A
|
|
|
NM_000199.5(SGSH):c.745+18G>A
|
|
|
NM_000199.5(SGSH):c.745+19G>A
|
|
|
NM_000199.5(SGSH):c.745+20C>T
|
|
|
NM_000199.5(SGSH):c.746-11C>T
|
|
|
NM_000199.5(SGSH):c.746-11_746-10del
|
|
|
NM_000199.5(SGSH):c.746-12C>G
|
|
|
NM_000199.5(SGSH):c.746-13C>A
|
|
|
NM_000199.5(SGSH):c.746-13C>T
|
|
|
NM_000199.5(SGSH):c.746-18C>G
|
rs2041699655
|
|
NM_000199.5(SGSH):c.746-18C>T
|
|
|
NM_000199.5(SGSH):c.746-20T>C
|
|
|
NM_000199.5(SGSH):c.746-5C>T
|
rs1449319213
|
|
NM_000199.5(SGSH):c.746-9T>C
|
rs766281885
|
|
NM_000199.5(SGSH):c.750T>C (p.Val250=)
|
|
|
NM_000199.5(SGSH):c.756G>C (p.Leu252=)
|
|
|
NM_000199.5(SGSH):c.759G>A (p.Val253=)
|
rs2041697973
|
|
NM_000199.5(SGSH):c.759G>C (p.Val253=)
|
rs2041697973
|
|
NM_000199.5(SGSH):c.75A>G (p.Ala25=)
|
rs1262969566
|
|
NM_000199.5(SGSH):c.771G>A (p.Leu257=)
|
rs1015384934
|
|
NM_000199.5(SGSH):c.783T>C (p.Gly261=)
|
|
|
NM_000199.5(SGSH):c.799C>T (p.Leu267=)
|
rs1182273458
|
|
NM_000199.5(SGSH):c.816C>G (p.Ser272=)
|
|
|
NM_000199.5(SGSH):c.849C>A (p.Thr283=)
|
rs2041693602
|
|
NM_000199.5(SGSH):c.849C>T (p.Thr283=)
|
|
|
NM_000199.5(SGSH):c.84C>A (p.Leu28=)
|
rs1219782774
|
|
NM_000199.5(SGSH):c.84C>T (p.Leu28=)
|
rs1219782774
|
|
NM_000199.5(SGSH):c.852C>T (p.Asn284=)
|
rs1295667096
|
|
NM_000199.5(SGSH):c.853C>T (p.Leu285=)
|
|
|
NM_000199.5(SGSH):c.855G>C (p.Leu285=)
|
|
|
NM_000199.5(SGSH):c.858C>T (p.Tyr286=)
|
|
|
NM_000199.5(SGSH):c.870T>G (p.Thr290=)
|
|
|
NM_000199.5(SGSH):c.873T>C (p.Ala291=)
|
|
|
NM_000199.5(SGSH):c.876A>G (p.Glu292=)
|
rs2144716396
|
|
NM_000199.5(SGSH):c.879C>G (p.Pro293=)
|
rs2144716366
|
|
NM_000199.5(SGSH):c.88+10G>A
|
rs2042098570
|
|
NM_000199.5(SGSH):c.88+13G>A
|
|
|
NM_000199.5(SGSH):c.88+14C>T
|
rs2144831422
|
|
NM_000199.5(SGSH):c.88+16G>A
|
|
|
NM_000199.5(SGSH):c.88+17C>A
|
|
|
NM_000199.5(SGSH):c.88+18C>T
|
|
|
NM_000199.5(SGSH):c.880T>C (p.Leu294=)
|
|
|
NM_000199.5(SGSH):c.885G>T (p.Leu295=)
|
|
|
NM_000199.5(SGSH):c.89-12C>T
|
|
|
NM_000199.5(SGSH):c.89-17T>A
|
rs2041926405
|
|
NM_000199.5(SGSH):c.89-18_89-15del
|
rs768357480
|
|
NM_000199.5(SGSH):c.89-19T>C
|
|
|
NM_000199.5(SGSH):c.89-24CT[2]
|
rs1467638240
|
|
NM_000199.5(SGSH):c.89-8T>G
|
rs2144783199
|
|
NM_000199.5(SGSH):c.89-9C>G
|
|
|
NM_000199.5(SGSH):c.89-9C>T
|
rs1333750382
|
|
NM_000199.5(SGSH):c.897G>A (p.Pro299=)
|
|
|
NM_000199.5(SGSH):c.897G>T (p.Pro299=)
|
|
|
NM_000199.5(SGSH):c.924C>G (p.Val308=)
|
|
|
NM_000199.5(SGSH):c.924C>T (p.Val308=)
|
rs2144715938
|
|
NM_000199.5(SGSH):c.930G>A (p.Glu310=)
|
rs2144715838
|
|
NM_000199.5(SGSH):c.946C>T (p.Leu316=)
|
rs2041689069
|
|
NM_000199.5(SGSH):c.949+10T>C
|
rs2041688460
|
|
NM_000199.5(SGSH):c.949+12T>A
|
|
|
NM_000199.5(SGSH):c.949+13_949+14del
|
|
|
NM_000199.5(SGSH):c.949+15_949+18del
|
rs771786259
|
|
NM_000199.5(SGSH):c.949+18T>C
|
|
|
NM_000199.5(SGSH):c.949+9T>G
|
|
|
NM_000199.5(SGSH):c.949+9_949+10del
|
|
|
NM_000199.5(SGSH):c.950-14C>T
|
|
|
NM_000199.5(SGSH):c.950-9C>G
|
rs2041634619
|
|
NM_000199.5(SGSH):c.950-9C>T
|
rs2041634619
|
|
NM_000199.5(SGSH):c.978C>T (p.Phe326=)
|
|
|
NM_000199.5(SGSH):c.981G>A (p.Ser327=)
|
rs143223388
|
|
NM_000199.5(SGSH):c.990C>T (p.Tyr330=)
|
|
|
NM_000199.5(SGSH):c.9C>T (p.Cys3=)
|
rs2144833432
|
|
NM_000202.8(IDS):c.1006+12G>T
|
|
|
NM_000202.8(IDS):c.1006+19C>G
|
|
|
NM_000202.8(IDS):c.1006+19C>T
|
|
|
NM_000202.8(IDS):c.1006+9T>C
|
|
|
NM_000202.8(IDS):c.1007-20C>T
|
rs2124006523
|
|
NM_000202.8(IDS):c.103+11C>T
|
|
|
NM_000202.8(IDS):c.103+13C>G
|
|
|
NM_000202.8(IDS):c.103+14C>T
|
|
|
NM_000202.8(IDS):c.103+19C>T
|
|
|
NM_000202.8(IDS):c.103+9C>T
|
|
|
NM_000202.8(IDS):c.104-10T>A
|
|
|
NM_000202.8(IDS):c.104-16C>G
|
|
|
NM_000202.8(IDS):c.104-16C>T
|
|
|
NM_000202.8(IDS):c.104-17C>T
|
|
|
NM_000202.8(IDS):c.104-19G>A
|
|
|
NM_000202.8(IDS):c.104-4G>A
|
rs2124066481
|
|
NM_000202.8(IDS):c.1044C>T (p.Tyr348=)
|
|
|
NM_000202.8(IDS):c.1053T>C (p.Phe351=)
|
rs2124006183
|
|
NM_000202.8(IDS):c.1065C>T (p.Thr355=)
|
|
|
NM_000202.8(IDS):c.1067A>G (p.His356Arg)
|
|
|
NM_000202.8(IDS):c.1083C>G (p.Phe361Leu)
|
|
|
NM_000202.8(IDS):c.1089T>C (p.Val363=)
|
|
|
NM_000202.8(IDS):c.108T>G (p.Ala36=)
|
rs2089505645
|
|
NM_000202.8(IDS):c.1101G>A (p.Thr367=)
|
|
|
NM_000202.8(IDS):c.1113G>T (p.Pro371=)
|
rs146615651
|
|
NM_000202.8(IDS):c.1122C>A (p.Gly374=)
|
rs113993948
|
|
NM_000202.8(IDS):c.1149T>G (p.Pro383=)
|
|
|
NM_000202.8(IDS):c.1166A>T (p.Gln389Leu)
|
|
|
NM_000202.8(IDS):c.1180+14T>C
|
|
|
NM_000202.8(IDS):c.1180+17A>G
|
|
|
NM_000202.8(IDS):c.1180+20G>A
|
|
|
NM_000202.8(IDS):c.1180+7A>C
|
rs2089340679
|
|
NM_000202.8(IDS):c.1188A>G (p.Gln396=)
|
rs2123995158
|
|
NM_000202.8(IDS):c.1191C>T (p.Ser397=)
|
|
|
NM_000202.8(IDS):c.1196A>T (p.Asp399Val)
|
|
|
NM_000202.8(IDS):c.1197C>T (p.Asp399=)
|
|
|
NM_000202.8(IDS):c.1203G>A (p.Val401=)
|
|
|
NM_000202.8(IDS):c.1212G>C (p.Val404=)
|
rs2123995105
|
|
NM_000202.8(IDS):c.1222C>G (p.Pro408Ala)
|
|
|
NM_000202.8(IDS):c.1222C>T (p.Pro408Ser)
|
|
|
NM_000202.8(IDS):c.1226C>T (p.Thr409Met)
|
|
|
NM_000202.8(IDS):c.1248G>T (p.Leu416=)
|
|
|
NM_000202.8(IDS):c.1275T>A (p.Pro425=)
|
|
|
NM_000202.8(IDS):c.1293G>A (p.Leu431=)
|
rs782203657
|
|
NM_000202.8(IDS):c.1297A>G (p.Arg433Gly)
|
rs2089307094
|
|
NM_000202.8(IDS):c.129C>T (p.Ile43=)
|
rs2124066238
|
|
NM_000202.8(IDS):c.12C>G (p.Pro4=)
|
|
|
NM_000202.8(IDS):c.12C>T (p.Pro4=)
|
|
|
NM_000202.8(IDS):c.1317G>T (p.Leu439=)
|
|
|
NM_000202.8(IDS):c.1333C>T (p.Arg445Cys)
|
|
|
NM_000202.8(IDS):c.1334G>A (p.Arg445His)
|
|
|
NM_000202.8(IDS):c.1335T>C (p.Arg445=)
|
|
|
NM_000202.8(IDS):c.1338C>T (p.Asp446=)
|
|
|
NM_000202.8(IDS):c.1352C>G (p.Pro451Arg)
|
|
|
NM_000202.8(IDS):c.1353G>C (p.Pro451=)
|
rs920711197
|
|
NM_000202.8(IDS):c.1371C>G (p.Pro457=)
|
|
|
NM_000202.8(IDS):c.1378C>T (p.Leu460=)
|
|
|
NM_000202.8(IDS):c.1380G>A (p.Leu460=)
|
|
|
NM_000202.8(IDS):c.1389T>C (p.Tyr463=)
|
|
|
NM_000202.8(IDS):c.1395G>A (p.Gln465=)
|
rs2123994427
|
|
NM_000202.8(IDS):c.13C>A (p.Arg5=)
|
|
|
NM_000202.8(IDS):c.1416C>T (p.Ile472=)
|
rs2123994324
|
|
NM_000202.8(IDS):c.1422G>A (p.Gln474=)
|
rs1569560371
|
|
NM_000202.8(IDS):c.1434C>T (p.Asp478=)
|
|
|
NM_000202.8(IDS):c.1440G>A (p.Pro480=)
|
|
|
NM_000202.8(IDS):c.1443T>C (p.Ser481=)
|
|
|
NM_000202.8(IDS):c.1452T>C (p.Asp484=)
|
|
|
NM_000202.8(IDS):c.1479C>T (p.Arg493=)
|
|
|
NM_000202.8(IDS):c.147C>G (p.Pro49=)
|
rs1557340415
|
|
NM_000202.8(IDS):c.1482C>T (p.Thr494=)
|
rs2123994147
|
|
NM_000202.8(IDS):c.1500T>A (p.Thr500=)
|
|
|
NM_000202.8(IDS):c.1500T>C (p.Thr500=)
|
rs1602725629
|
|
NM_000202.8(IDS):c.1503G>C (p.Val501=)
|
|
|
NM_000202.8(IDS):c.151C>T (p.Leu51=)
|
rs1340608360
|
|
NM_000202.8(IDS):c.1531C>T (p.Leu511=)
|
|
|
NM_000202.8(IDS):c.1536T>C (p.Ala512=)
|
rs782673868
|
|
NM_000202.8(IDS):c.1539C>T (p.Asn513=)
|
|
|
NM_000202.8(IDS):c.1564C>T (p.Leu522=)
|
rs2124648290
|
|
NM_000202.8(IDS):c.156C>T (p.Gly52=)
|
rs2089504569
|
|
NM_000202.8(IDS):c.1584C>T (p.Asp528=)
|
rs2124648280
|
|
NM_000202.8(IDS):c.1587A>G (p.Pro529=)
|
|
|
NM_000202.8(IDS):c.1588T>C (p.Leu530=)
|
|
|
NM_000202.8(IDS):c.15G>A (p.Arg5=)
|
rs2124069552
|
|
NM_000202.8(IDS):c.15G>T (p.Arg5=)
|
rs2124069552
|
|
NM_000202.8(IDS):c.1608T>C (p.Tyr536=)
|
rs2089303285
|
|
NM_000202.8(IDS):c.1617C>T (p.Ser539=)
|
rs782717602
|
|
NM_000202.8(IDS):c.1626A>C (p.Gly542=)
|
|
|
NM_000202.8(IDS):c.1629T>C (p.Asp543=)
|
|
|
NM_000202.8(IDS):c.165G>A (p.Gly55=)
|
|
|
NM_000202.8(IDS):c.171G>A (p.Lys57=)
|
|
|
NM_000202.8(IDS):c.172C>T (p.Leu58=)
|
|
|
NM_000202.8(IDS):c.183C>A (p.Ser61=)
|
|
|
NM_000202.8(IDS):c.183C>T (p.Ser61=)
|
rs2124065941
|
|
NM_000202.8(IDS):c.18C>G (p.Thr6=)
|
|
|
NM_000202.8(IDS):c.207C>T (p.Ser69=)
|
|
|
NM_000202.8(IDS):c.213C>T (p.Ser71=)
|
|
|
NM_000202.8(IDS):c.222C>T (p.Phe74=)
|
|
|
NM_000202.8(IDS):c.22C>A (p.Arg8=)
|
|
|
NM_000202.8(IDS):c.231C>T (p.Ala77=)
|
rs1602749217
|
|
NM_000202.8(IDS):c.240+11del
|
|
|
NM_000202.8(IDS):c.240+12A>G
|
|
|
NM_000202.8(IDS):c.240+14C>T
|
|
|
NM_000202.8(IDS):c.240+20G>A
|
|
|
NM_000202.8(IDS):c.240+7C>T
|
rs2124065624
|
|
NM_000202.8(IDS):c.241-14C>G
|
|
|
NM_000202.8(IDS):c.241-16T>C
|
|
|
NM_000202.8(IDS):c.241-5A>G
|
|
|
NM_000202.8(IDS):c.241-6T>G
|
|
|
NM_000202.8(IDS):c.241-7C>T
|
rs2124063828
|
|
NM_000202.8(IDS):c.258G>A (p.Pro86=)
|
|
|
NM_000202.8(IDS):c.300C>T (p.Thr100=)
|
rs2124063502
|
|
NM_000202.8(IDS):c.306G>A (p.Leu102=)
|
|
|
NM_000202.8(IDS):c.312C>T (p.Asp104=)
|
rs2124063377
|
|
NM_000202.8(IDS):c.315C>T (p.Phe105=)
|
rs2124063363
|
|
NM_000202.8(IDS):c.31C>T (p.Leu11Phe)
|
|
|
NM_000202.8(IDS):c.333G>T (p.Val111=)
|
rs2124063244
|
|
NM_000202.8(IDS):c.33C>T (p.Leu11=)
|
|
|
NM_000202.8(IDS):c.360C>G (p.Pro120=)
|
|
|
NM_000202.8(IDS):c.378T>C (p.Asn126=)
|
rs2124063034
|
|
NM_000202.8(IDS):c.37C>T (p.Leu13=)
|
|
|
NM_000202.8(IDS):c.414C>T (p.His138=)
|
rs1602748259
|
|
NM_000202.8(IDS):c.418+10C>T
|
|
|
NM_000202.8(IDS):c.418+11A>G
|
|
|
NM_000202.8(IDS):c.418+14T>A
|
|
|
NM_000202.8(IDS):c.418+20G>T
|
|
|
NM_000202.8(IDS):c.418+8T>C
|
|
|
NM_000202.8(IDS):c.418+9C>G
|
|
|
NM_000202.8(IDS):c.419-10T>C
|
|
|
NM_000202.8(IDS):c.419-17C>G
|
|
|
NM_000202.8(IDS):c.419-4del
|
|
|
NM_000202.8(IDS):c.420G>T (p.Gly140=)
|
|
|
NM_000202.8(IDS):c.438C>A (p.Thr146=)
|
rs1141608
|
|
NM_000202.8(IDS):c.441T>C (p.Asp147=)
|
|
|
NM_000202.8(IDS):c.448C>T (p.Pro150Ser)
|
|
|
NM_000202.8(IDS):c.450G>T (p.Pro150=)
|
rs201892132
|
|
NM_000202.8(IDS):c.465T>C (p.Phe155=)
|
rs149210251
|
|
NM_000202.8(IDS):c.474T>C (p.Tyr158=)
|
|
|
NM_000202.8(IDS):c.480T>A (p.Pro160=)
|
rs2124055254
|
|
NM_000202.8(IDS):c.483C>T (p.Ser161=)
|
rs2124055212
|
|
NM_000202.8(IDS):c.49C>T (p.Leu17=)
|
rs781834400
|
|
NM_000202.8(IDS):c.507+14A>G
|
|
|
NM_000202.8(IDS):c.507+17G>C
|
|
|
NM_000202.8(IDS):c.507+17G>T
|
|
|
NM_000202.8(IDS):c.507+20A>G
|
|
|
NM_000202.8(IDS):c.507+20A>T
|
|
|
NM_000202.8(IDS):c.507+7C>T
|
rs1225416290
|
|
NM_000202.8(IDS):c.508-15A>G
|
|
|
NM_000202.8(IDS):c.508-19T>A
|
rs2124047400
|
|
NM_000202.8(IDS):c.508-19T>C
|
|
|
NM_000202.8(IDS):c.508-20A>G
|
|
|
NM_000202.8(IDS):c.508-20del
|
|
|
NM_000202.8(IDS):c.508-5G>T
|
rs1889382373
|
|
NM_000202.8(IDS):c.508-8T>G
|
|
|
NM_000202.8(IDS):c.516A>G (p.Arg172=)
|
|
|
NM_000202.8(IDS):c.517G>A (p.Gly173Arg)
|
|
|
NM_000202.8(IDS):c.522A>G (p.Pro174=)
|
rs2124047235
|
|
NM_000202.8(IDS):c.534C>T (p.Leu178=)
|
rs2124047211
|
|
NM_000202.8(IDS):c.540C>T (p.Ala180=)
|
rs2089452510
|
|
NM_000202.8(IDS):c.546G>A (p.Leu182=)
|
|
|
NM_000202.8(IDS):c.54C>T (p.Ser18=)
|
rs782607292
|
|
NM_000202.8(IDS):c.570T>C (p.Asp190=)
|
|
|
NM_000202.8(IDS):c.575C>G (p.Pro192Arg)
|
|
|
NM_000202.8(IDS):c.576C>G (p.Pro192=)
|
|
|
NM_000202.8(IDS):c.578A>G (p.Glu193Gly)
|
|
|
NM_000202.8(IDS):c.57C>G (p.Ser19=)
|
|
|
NM_000202.8(IDS):c.625T>C (p.Leu209=)
|
|
|
NM_000202.8(IDS):c.63C>T (p.Cys21=)
|
rs2124069268
|
|
NM_000202.8(IDS):c.642G>A (p.Thr214=)
|
rs1738744298
|
|
NM_000202.8(IDS):c.642G>T (p.Thr214=)
|
rs1738744298
|
|
NM_000202.8(IDS):c.669T>G (p.Val223=)
|
rs2124046491
|
|
NM_000202.8(IDS):c.66C>T (p.Val22=)
|
|
|
NM_000202.8(IDS):c.693C>T (p.Pro231=)
|
rs2124046263
|
|
NM_000202.8(IDS):c.69C>G (p.Ala23=)
|
rs1602750461
|
|
NM_000202.8(IDS):c.69C>T (p.Ala23=)
|
rs1602750461
|
|
NM_000202.8(IDS):c.702C>T (p.Tyr234=)
|
|
|
NM_000202.8(IDS):c.705C>T (p.Pro235=)
|
|
|
NM_000202.8(IDS):c.708+10T>A
|
rs2124046135
|
|
NM_000202.8(IDS):c.708+19G>T
|
|
|
NM_000202.8(IDS):c.729C>T (p.Pro243=)
|
|
|
NM_000202.8(IDS):c.72C>T (p.Leu24=)
|
rs781800570
|
|
NM_000202.8(IDS):c.738C>T (p.Asn246=)
|
|
|
NM_000202.8(IDS):c.744C>T (p.Thr248=)
|
|
|
NM_000202.8(IDS):c.747G>A (p.Leu249=)
|
rs2124041932
|
|
NM_000202.8(IDS):c.750C>G (p.Ala250=)
|
|
|
NM_000202.8(IDS):c.759C>G (p.Pro253=)
|
rs1214276270
|
|
NM_000202.8(IDS):c.777A>T (p.Leu259=)
|
rs782773319
|
|
NM_000202.8(IDS):c.780C>T (p.Pro260=)
|
|
|
NM_000202.8(IDS):c.783T>C (p.Pro261=)
|
|
|
NM_000202.8(IDS):c.78C>A (p.Ser26=)
|
|
|
NM_000202.8(IDS):c.795C>T (p.Asn265=)
|
|
|
NM_000202.8(IDS):c.813G>A (p.Arg271=)
|
|
|
NM_000202.8(IDS):c.816A>G (p.Gln272=)
|
|
|
NM_000202.8(IDS):c.819G>A (p.Arg273=)
|
|
|
NM_000202.8(IDS):c.826G>A (p.Val276Ile)
|
|
|
NM_000202.8(IDS):c.826G>C (p.Val276Leu)
|
rs200694354
|
|
NM_000202.8(IDS):c.834C>T (p.Ala278=)
|
rs2124041303
|
|
NM_000202.8(IDS):c.846T>C (p.Ser282=)
|
|
|
NM_000202.8(IDS):c.84G>T (p.Thr28=)
|
rs1194554189
|
|
NM_000202.8(IDS):c.858T>G (p.Gly286=)
|
|
|
NM_000202.8(IDS):c.879+10A>G
|
rs2124041048
|
|
NM_000202.8(IDS):c.879+11del
|
|
|
NM_000202.8(IDS):c.879+12A>G
|
|
|
NM_000202.8(IDS):c.879+14A>G
|
|
|
NM_000202.8(IDS):c.879+17T>G
|
|
|
NM_000202.8(IDS):c.879+20G>A
|
|
|
NM_000202.8(IDS):c.879+7A>G
|
|
|
NM_000202.8(IDS):c.879+9G>C
|
|
|
NM_000202.8(IDS):c.880-19A>T
|
|
|
NM_000202.8(IDS):c.880-19del
|
|
|
NM_000202.8(IDS):c.880-20T>A
|
|
|
NM_000202.8(IDS):c.880-5del
|
rs1458652265
|
|
NM_000202.8(IDS):c.909T>C (p.Ser303=)
|
|
|
NM_000202.8(IDS):c.92A>G (p.Asn31Ser)
|
|
|
NM_000202.8(IDS):c.931G>C (p.Val311Leu)
|
|
|
NM_000202.8(IDS):c.954G>A (p.Leu318=)
|
rs2124020303
|
|
NM_000202.8(IDS):c.966G>A (p.Gln322=)
|
rs2124020165
|
|
NM_000202.8(IDS):c.967C>T (p.Leu323=)
|
rs2124020149
|
|
NM_000202.8(IDS):c.974A>G (p.Asn325Ser)
|
|
|
NM_000202.8(IDS):c.978C>T (p.Ser326=)
|
|
|
NM_000202.8(IDS):c.995C>T (p.Thr332Ile)
|
|
|
NM_000203.5(IDUA):c.1011C>T (p.Thr337=)
|
rs142464969
|
|
NM_000203.5(IDUA):c.1014C>G (p.Thr338=)
|
|
|
NM_000203.5(IDUA):c.1014C>T (p.Thr338=)
|
rs1300855516
|
|
NM_000203.5(IDUA):c.1017C>T (p.Ser339=)
|
|
|
NM_000203.5(IDUA):c.1020C>T (p.Ala340=)
|
|
|
NM_000203.5(IDUA):c.1023C>T (p.Phe341=)
|
|
|
NM_000203.5(IDUA):c.1026C>A (p.Pro342=)
|
|
|
NM_000203.5(IDUA):c.1029C>T (p.Tyr343=)
|
rs764196171
|
|
NM_000203.5(IDUA):c.1032G>C (p.Ala344=)
|
|
|
NM_000203.5(IDUA):c.1032G>T (p.Ala344=)
|
|
|
NM_000203.5(IDUA):c.1035C>T (p.Leu345=)
|
|
|
NM_000203.5(IDUA):c.1038G>C (p.Leu346=)
|
rs758334375
|
|
NM_000203.5(IDUA):c.1041C>T (p.Ser347=)
|
rs2153022353
|
|
NM_000203.5(IDUA):c.1044C>T (p.Asn348=)
|
rs746766617
|
|
NM_000203.5(IDUA):c.1053C>G (p.Ala351=)
|
rs762621113
|
|
NM_000203.5(IDUA):c.1059G>A (p.Leu353=)
|
rs2153022362
|
|
NM_000203.5(IDUA):c.1062C>T (p.Ser354=)
|
|
|
NM_000203.5(IDUA):c.1068C>T (p.His356=)
|
rs1577541175
|
|
NM_000203.5(IDUA):c.1071G>A (p.Pro357=)
|
|
|
NM_000203.5(IDUA):c.1077C>A (p.Pro359=)
|
|
|
NM_000203.5(IDUA):c.1077C>G (p.Pro359=)
|
|
|
NM_000203.5(IDUA):c.1077C>T (p.Pro359=)
|
rs374666235
|
|
NM_000203.5(IDUA):c.1080C>T (p.Phe360=)
|
|
|
NM_000203.5(IDUA):c.108G>C (p.Ala36=)
|
|
|
NM_000203.5(IDUA):c.1101G>T (p.Ala367=)
|
rs1208743786
|
|
NM_000203.5(IDUA):c.1104C>T (p.Arg368=)
|
rs747739718
|
|
NM_000203.5(IDUA):c.1110G>A (p.Gln370=)
|
|
|
NM_000203.5(IDUA):c.1113C>A (p.Val371=)
|
rs777631094
|
|
NM_000203.5(IDUA):c.1113C>T (p.Val371=)
|
|
|
NM_000203.5(IDUA):c.1122C>T (p.Thr374=)
|
|
|
NM_000203.5(IDUA):c.1125C>T (p.Arg375=)
|
|
|
NM_000203.5(IDUA):c.1131G>A (p.Pro377=)
|
rs1715149905
|
|
NM_000203.5(IDUA):c.1131G>T (p.Pro377=)
|
|
|
NM_000203.5(IDUA):c.1141C>T (p.Leu381=)
|
|
|
NM_000203.5(IDUA):c.1149C>G (p.Arg383=)
|
|
|
NM_000203.5(IDUA):c.1149C>T (p.Arg383=)
|
rs767632084
|
|
NM_000203.5(IDUA):c.1161C>T (p.Leu387=)
|
rs1553917312
|
|
NM_000203.5(IDUA):c.1164G>A (p.Thr388=)
|
rs6836258
|
|
NM_000203.5(IDUA):c.1164G>T (p.Thr388=)
|
rs6836258
|
|
NM_000203.5(IDUA):c.1167C>T (p.Ala389=)
|
rs1715153431
|
|
NM_000203.5(IDUA):c.1173G>T (p.Gly391=)
|
|
|
NM_000203.5(IDUA):c.1182G>C (p.Ala394=)
|
|
|
NM_000203.5(IDUA):c.1189+10G>A
|
|
|
NM_000203.5(IDUA):c.1189+13C>A
|
|
|
NM_000203.5(IDUA):c.1189+13del
|
|
|
NM_000203.5(IDUA):c.1189+14G>A
|
|
|
NM_000203.5(IDUA):c.1189+16T>C
|
|
|
NM_000203.5(IDUA):c.1189+17G>A
|
|
|
NM_000203.5(IDUA):c.1189+19G>T
|
|
|
NM_000203.5(IDUA):c.1189+8G>A
|
|
|
NM_000203.5(IDUA):c.1190-10C>G
|
rs1443642527
|
|
NM_000203.5(IDUA):c.1190-11C>A
|
|
|
NM_000203.5(IDUA):c.1190-11C>G
|
|
|
NM_000203.5(IDUA):c.1190-11C>T
|
|
|
NM_000203.5(IDUA):c.1190-11_1190-10insG
|
|
|
NM_000203.5(IDUA):c.1190-11_1190-10insT
|
|
|
NM_000203.5(IDUA):c.1190-12C>A
|
|
|
NM_000203.5(IDUA):c.1190-12C>G
|
|
|
NM_000203.5(IDUA):c.1190-12_1190-11insA
|
|
|
NM_000203.5(IDUA):c.1190-12_1190-11insG
|
|
|
NM_000203.5(IDUA):c.1190-13C>A
|
|
|
NM_000203.5(IDUA):c.1190-13C>G
|
|
|
NM_000203.5(IDUA):c.1190-13C>T
|
|
|
NM_000203.5(IDUA):c.1190-14C>G
|
|
|
NM_000203.5(IDUA):c.1190-14C>T
|
|
|
NM_000203.5(IDUA):c.1190-14_1190-13insT
|
|
|
NM_000203.5(IDUA):c.1190-15C>T
|
|
|
NM_000203.5(IDUA):c.1190-16C>G
|
|
|
NM_000203.5(IDUA):c.1190-17C>A
|
|
|
NM_000203.5(IDUA):c.1190-17C>T
|
|
|
NM_000203.5(IDUA):c.1190-18C>A
|
|
|
NM_000203.5(IDUA):c.1190-18C>T
|
|
|
NM_000203.5(IDUA):c.1190-19G>A
|
|
|
NM_000203.5(IDUA):c.1190-20G>A
|
|
|
NM_000203.5(IDUA):c.1190-20G>T
|
|
|
NM_000203.5(IDUA):c.1190-4G>A
|
rs763252022
|
|
NM_000203.5(IDUA):c.1190-8C>A
|
|
|
NM_000203.5(IDUA):c.1190-8C>T
|
|
|
NM_000203.5(IDUA):c.1190-9G>A
|
|
|
NM_000203.5(IDUA):c.1191T>C (p.Asp397=)
|
|
|
NM_000203.5(IDUA):c.1209C>T (p.Ala403=)
|
rs990733414
|
|
NM_000203.5(IDUA):c.1215G>T (p.Val405=)
|
|
|
NM_000203.5(IDUA):c.1218G>A (p.Ser406=)
|
rs917822878
|
|
NM_000203.5(IDUA):c.1218G>T (p.Ser406=)
|
rs917822878
|
|
NM_000203.5(IDUA):c.1224C>G (p.Ala408=)
|
|
|
NM_000203.5(IDUA):c.1225G>A (p.Gly409Arg)
|
rs11934801
|
|
NM_000203.5(IDUA):c.1227G>A (p.Gly409=)
|
rs2153022577
|
|
NM_000203.5(IDUA):c.1230C>A (p.Thr410=)
|
rs115790973
|
|
NM_000203.5(IDUA):c.1230C>T (p.Thr410=)
|
rs115790973
|
|
NM_000203.5(IDUA):c.1236G>C (p.Leu412=)
|
rs2153022592
|
|
NM_000203.5(IDUA):c.1251G>C (p.Thr417=)
|
|
|
NM_000203.5(IDUA):c.1257C>G (p.Gly419=)
|
rs1256676778
|
|
NM_000203.5(IDUA):c.1269C>T (p.Ser423=)
|
rs931627770
|
|
NM_000203.5(IDUA):c.1271C>T (p.Ala424Val)
|
|
|
NM_000203.5(IDUA):c.1272C>T (p.Ala424=)
|
|
|
NM_000203.5(IDUA):c.1278C>A (p.Arg426=)
|
|
|
NM_000203.5(IDUA):c.127C>T (p.Leu43=)
|
rs2153015240
|
|
NM_000203.5(IDUA):c.1281C>A (p.Pro427=)
|
rs2153022616
|
|
NM_000203.5(IDUA):c.1281C>T (p.Pro427=)
|
rs2153022616
|
|
NM_000203.5(IDUA):c.1287C>G (p.Gly429=)
|
rs2153022621
|
|
NM_000203.5(IDUA):c.1290G>C (p.Pro430=)
|
|
|
NM_000203.5(IDUA):c.1293C>A (p.Ala431=)
|
rs559676638
|
|
NM_000203.5(IDUA):c.1293C>G (p.Ala431=)
|
rs559676638
|
|
NM_000203.5(IDUA):c.1296C>T (p.Asp432=)
|
rs2153022623
|
|
NM_000203.5(IDUA):c.1305C>A (p.Arg435=)
|
rs1577542420
|
|
NM_000203.5(IDUA):c.1323C>T (p.Tyr441=)
|
rs1463087550
|
|
NM_000203.5(IDUA):c.1326G>A (p.Ala442=)
|
rs1374287949
|
|
NM_000203.5(IDUA):c.1326G>T (p.Ala442=)
|
|
|
NM_000203.5(IDUA):c.1329C>T (p.Ser443=)
|
|
|
NM_000203.5(IDUA):c.132G>A (p.Arg44=)
|
rs2153015245
|
|
NM_000203.5(IDUA):c.1330G>A (p.Asp444Asn)
|
|
|
NM_000203.5(IDUA):c.1338C>G (p.Thr446=)
|
rs2153022644
|
|
NM_000203.5(IDUA):c.1338C>T (p.Thr446=)
|
|
|
NM_000203.5(IDUA):c.1344C>G (p.Ala448=)
|
|
|
NM_000203.5(IDUA):c.1359C>T (p.Ser453=)
|
|
|
NM_000203.5(IDUA):c.135C>T (p.Arg45=)
|
|
|
NM_000203.5(IDUA):c.1362C>A (p.Val454=)
|
rs1394012754
|
|
NM_000203.5(IDUA):c.1362C>G (p.Val454=)
|
rs1394012754
|
|
NM_000203.5(IDUA):c.1365G>A (p.Ala455=)
|
|
|
NM_000203.5(IDUA):c.1368G>A (p.Val456=)
|
rs1175142973
|
|
NM_000203.5(IDUA):c.1371C>A (p.Thr457=)
|
|
|
NM_000203.5(IDUA):c.1371C>T (p.Thr457=)
|
rs1468338796
|
|
NM_000203.5(IDUA):c.1377G>A (p.Arg459=)
|
|
|
NM_000203.5(IDUA):c.1380G>A (p.Leu460=)
|
rs978001242
|
|
NM_000203.5(IDUA):c.1386G>A (p.Gly462=)
|
rs2153022680
|
|
NM_000203.5(IDUA):c.1402+11G>A
|
rs2153022703
|
|
NM_000203.5(IDUA):c.1402+11_1402+13del
|
|
|
NM_000203.5(IDUA):c.1402+18G>A
|
|
|
NM_000203.5(IDUA):c.1402+19G>C
|
|
|
NM_000203.5(IDUA):c.1402+20A>C
|
|
|
NM_000203.5(IDUA):c.1402+7C>T
|
rs2153022699
|
|
NM_000203.5(IDUA):c.1402+8G>C
|
|
|
NM_000203.5(IDUA):c.1403-18G>A
|
|
|
NM_000203.5(IDUA):c.1403-20C>T
|
|
|
NM_000203.5(IDUA):c.1403-5C>G
|
rs930815881
|
|
NM_000203.5(IDUA):c.1403-7C>T
|
|
|
NM_000203.5(IDUA):c.1403-9G>T
|
|
|
NM_000203.5(IDUA):c.1404C>G (p.Gly468=)
|
|
|
NM_000203.5(IDUA):c.1407G>T (p.Leu469=)
|
|
|
NM_000203.5(IDUA):c.1413C>T (p.Tyr471=)
|
rs753138197
|
|
NM_000203.5(IDUA):c.1416C>A (p.Val472=)
|
|
|
NM_000203.5(IDUA):c.1416C>T (p.Val472=)
|
rs1715205390
|
|
NM_000203.5(IDUA):c.1419G>A (p.Thr473=)
|
rs1715205662
|
|
NM_000203.5(IDUA):c.1437G>A (p.Gly479=)
|
rs2153022756
|
|
NM_000203.5(IDUA):c.1437G>C (p.Gly479=)
|
|
|
NM_000203.5(IDUA):c.1437G>T (p.Gly479=)
|
rs2153022756
|
|
NM_000203.5(IDUA):c.1440C>G (p.Leu480=)
|
rs760901993
|
|
NM_000203.5(IDUA):c.1440C>T (p.Leu480=)
|
rs760901993
|
|
NM_000203.5(IDUA):c.1449C>A (p.Pro483=)
|
rs761637332
|
|
NM_000203.5(IDUA):c.1449C>G (p.Pro483=)
|
rs761637332
|
|
NM_000203.5(IDUA):c.1449C>T (p.Pro483=)
|
rs761637332
|
|
NM_000203.5(IDUA):c.1452C>T (p.Asp484=)
|
rs4690224
|
|
NM_000203.5(IDUA):c.1455C>G (p.Gly485=)
|
|
|
NM_000203.5(IDUA):c.1462C>A (p.Arg488=)
|
rs868460406
|
|
NM_000203.5(IDUA):c.1467C>G (p.Arg489=)
|
rs115929690
|
|
NM_000203.5(IDUA):c.1468C>T (p.Leu490=)
|
|
|
NM_000203.5(IDUA):c.1470G>A (p.Leu490=)
|
rs1715211623
|
|
NM_000203.5(IDUA):c.1476G>C (p.Arg492=)
|
rs2153022780
|
|
NM_000203.5(IDUA):c.1479C>G (p.Pro493=)
|
rs370394527
|
|
NM_000203.5(IDUA):c.147C>T (p.Ser49=)
|
rs2153015263
|
|
NM_000203.5(IDUA):c.1485C>T (p.Phe495=)
|
rs746018077
|
|
NM_000203.5(IDUA):c.1488C>T (p.Pro496=)
|
rs780479570
|
|
NM_000203.5(IDUA):c.1491G>A (p.Thr497=)
|
rs374102243
|
|
NM_000203.5(IDUA):c.1491G>C (p.Thr497=)
|
rs374102243
|
|
NM_000203.5(IDUA):c.1491G>T (p.Thr497=)
|
rs374102243
|
|
NM_000203.5(IDUA):c.1494A>G (p.Ala498=)
|
|
|
NM_000203.5(IDUA):c.1497G>A (p.Glu499=)
|
|
|
NM_000203.5(IDUA):c.1509C>T (p.Arg503=)
|
|
|
NM_000203.5(IDUA):c.150A>G (p.Thr50=)
|
rs2153015268
|
|
NM_000203.5(IDUA):c.1515C>G (p.Arg505=)
|
|
|
NM_000203.5(IDUA):c.1518G>C (p.Ala506=)
|
rs772988328
|
|
NM_000203.5(IDUA):c.1521T>C (p.Ala507=)
|
|
|
NM_000203.5(IDUA):c.1524+11C>G
|
|
|
NM_000203.5(IDUA):c.1524+11C>T
|
|
|
NM_000203.5(IDUA):c.1524+12G>A
|
|
|
NM_000203.5(IDUA):c.1524+13C>A
|
|
|
NM_000203.5(IDUA):c.1524+14G>C
|
|
|
NM_000203.5(IDUA):c.1524+15G>A
|
|
|
NM_000203.5(IDUA):c.1524+15G>T
|
|
|
NM_000203.5(IDUA):c.1524+16A>T
|
|
|
NM_000203.5(IDUA):c.1524+17G>A
|
|
|
NM_000203.5(IDUA):c.1524+18G>C
|
|
|
NM_000203.5(IDUA):c.1524+19G>A
|
|
|
NM_000203.5(IDUA):c.1524+20G>C
|
|
|
NM_000203.5(IDUA):c.1525-13C>A
|
|
|
NM_000203.5(IDUA):c.1525-15G>T
|
|
|
NM_000203.5(IDUA):c.1525-16C>G
|
rs941426443
|
|
NM_000203.5(IDUA):c.1525-16C>T
|
|
|
NM_000203.5(IDUA):c.1525-16del
|
|
|
NM_000203.5(IDUA):c.1525-17C>G
|
|
|
NM_000203.5(IDUA):c.1525-17C>T
|
|
|
NM_000203.5(IDUA):c.1525-20G>A
|
|
|
NM_000203.5(IDUA):c.1525-3dup
|
rs762593235
|
|
NM_000203.5(IDUA):c.1525-4C>G
|
rs1715234723
|
|
NM_000203.5(IDUA):c.1525-5C>T
|
rs2153022876
|
|
NM_000203.5(IDUA):c.1525-6G>C
|
rs1560549741
|
|
NM_000203.5(IDUA):c.1525-6G>T
|
rs1560549741
|
|
NM_000203.5(IDUA):c.1530G>A (p.Pro510=)
|
|
|
NM_000203.5(IDUA):c.1530G>T (p.Pro510=)
|
|
|
NM_000203.5(IDUA):c.1539G>C (p.Ala513=)
|
rs1715236417
|
|
NM_000203.5(IDUA):c.1539G>T (p.Ala513=)
|
|
|
NM_000203.5(IDUA):c.1551C>G (p.Pro517=)
|
rs892707514
|
|
NM_000203.5(IDUA):c.1560C>G (p.Ala520=)
|
|
|
NM_000203.5(IDUA):c.1560C>T (p.Ala520=)
|
|
|
NM_000203.5(IDUA):c.1563C>G (p.Gly521=)
|
|
|
NM_000203.5(IDUA):c.1576C>T (p.Leu526=)
|
|
|
NM_000203.5(IDUA):c.158+11C>T
|
|
|
NM_000203.5(IDUA):c.158+12G>A
|
|
|
NM_000203.5(IDUA):c.158+13C>T
|
|
|
NM_000203.5(IDUA):c.158+16C>G
|
|
|
NM_000203.5(IDUA):c.158+16C>T
|
|
|
NM_000203.5(IDUA):c.158+18T>C
|
|
|
NM_000203.5(IDUA):c.158+7G>T
|
rs1488477352
|
|
NM_000203.5(IDUA):c.158+9T>C
|
|
|
NM_000203.5(IDUA):c.1584C>G (p.Pro528=)
|
|
|
NM_000203.5(IDUA):c.1584C>T (p.Pro528=)
|
rs1553917553
|
|
NM_000203.5(IDUA):c.1587G>C (p.Ala529=)
|
|
|
NM_000203.5(IDUA):c.1588C>T (p.Leu530=)
|
rs749053703
|
|
NM_000203.5(IDUA):c.159-17C>T
|
|
|
NM_000203.5(IDUA):c.159-18C>T
|
|
|
NM_000203.5(IDUA):c.159-20C>A
|
|
|
NM_000203.5(IDUA):c.159-20C>T
|
|
|
NM_000203.5(IDUA):c.159-9T>C
|
|
|
NM_000203.5(IDUA):c.1591C>A (p.Arg531=)
|
|
|
NM_000203.5(IDUA):c.1593G>A (p.Arg531=)
|
|
|
NM_000203.5(IDUA):c.1594C>T (p.Leu532=)
|
|
|
NM_000203.5(IDUA):c.1596G>A (p.Leu532=)
|
rs2153022921
|
|
NM_000203.5(IDUA):c.1599G>T (p.Pro533=)
|
|
|
NM_000203.5(IDUA):c.15C>A (p.Arg5=)
|
|
|
NM_000203.5(IDUA):c.15C>G (p.Arg5=)
|
|
|
NM_000203.5(IDUA):c.15C>T (p.Arg5=)
|
rs750154430
|
|
NM_000203.5(IDUA):c.1609C>T (p.Leu537=)
|
rs916118864
|
|
NM_000203.5(IDUA):c.1614G>A (p.Val538=)
|
|
|
NM_000203.5(IDUA):c.1623T>C (p.Cys541=)
|
|
|
NM_000203.5(IDUA):c.162C>T (p.Pro54=)
|
rs1378930636
|
|
NM_000203.5(IDUA):c.1641G>A (p.Pro547=)
|
rs751005613
|
|
NM_000203.5(IDUA):c.1641G>C (p.Pro547=)
|
|
|
NM_000203.5(IDUA):c.1641G>T (p.Pro547=)
|
rs751005613
|
|
NM_000203.5(IDUA):c.1644C>G (p.Pro548=)
|
|
|
NM_000203.5(IDUA):c.1644C>T (p.Pro548=)
|
|
|
NM_000203.5(IDUA):c.1647G>A (p.Gly549=)
|
rs2153022957
|
|
NM_000203.5(IDUA):c.1647G>C (p.Gly549=)
|
|
|
NM_000203.5(IDUA):c.1650+10A>T
|
|
|
NM_000203.5(IDUA):c.1650+12T>A
|
|
|
NM_000203.5(IDUA):c.1650+12T>C
|
rs1715248390
|
|
NM_000203.5(IDUA):c.1650+12T>G
|
|
|
NM_000203.5(IDUA):c.1650+13C>A
|
|
|
NM_000203.5(IDUA):c.1650+13C>T
|
|
|
NM_000203.5(IDUA):c.1650+14C>T
|
|
|
NM_000203.5(IDUA):c.1650+16C>T
|
|
|
NM_000203.5(IDUA):c.1650+8G>A
|
rs1303834044
|
|
NM_000203.5(IDUA):c.1650+9C>T
|
rs1715247936
|
|
NM_000203.5(IDUA):c.1650+9_1650+10insT
|
|
|
NM_000203.5(IDUA):c.1651-11C>A
|
|
|
NM_000203.5(IDUA):c.1651-11C>G
|
|
|
NM_000203.5(IDUA):c.1651-14C>T
|
|
|
NM_000203.5(IDUA):c.1651-15C>A
|
|
|
NM_000203.5(IDUA):c.1651-15C>T
|
|
|
NM_000203.5(IDUA):c.1651-4C>G
|
rs1715254489
|
|
NM_000203.5(IDUA):c.1651-5C>T
|
|
|
NM_000203.5(IDUA):c.1651-6C>G
|
|
|
NM_000203.5(IDUA):c.1651-6C>T
|
rs1268730017
|
|
NM_000203.5(IDUA):c.1651-7C>A
|
rs934115207
|
|
NM_000203.5(IDUA):c.1651-7C>T
|
rs934115207
|
|
NM_000203.5(IDUA):c.1651-9C>T
|
rs2153022985
|
|
NM_000203.5(IDUA):c.1651-9del
|
|
|
NM_000203.5(IDUA):c.1651-9dup
|
|
|
NM_000203.5(IDUA):c.165G>A (p.Pro55=)
|
rs1316670340
|
|
NM_000203.5(IDUA):c.1662C>A (p.Leu554=)
|
rs1051037909
|
|
NM_000203.5(IDUA):c.1669C>T (p.Leu557=)
|
|
|
NM_000203.5(IDUA):c.1674C>T (p.Pro558=)
|
rs767943753
|
|
NM_000203.5(IDUA):c.1675C>T (p.Leu559=)
|
rs1715257303
|
|
NM_000203.5(IDUA):c.1677G>C (p.Leu559=)
|
|
|
NM_000203.5(IDUA):c.1683A>G (p.Gln561=)
|
|
|
NM_000203.5(IDUA):c.1686G>A (p.Gly562=)
|
|
|
NM_000203.5(IDUA):c.1686G>C (p.Gly562=)
|
rs2153023022
|
|
NM_000203.5(IDUA):c.1689G>A (p.Gln563=)
|
rs1577544315
|
|
NM_000203.5(IDUA):c.1690C>T (p.Leu564=)
|
|
|
NM_000203.5(IDUA):c.1692G>A (p.Leu564=)
|
rs749848297
|
|
NM_000203.5(IDUA):c.1692G>C (p.Leu564=)
|
rs749848297
|
|
NM_000203.5(IDUA):c.1692G>T (p.Leu564=)
|
|
|
NM_000203.5(IDUA):c.1695T>C (p.Val565=)
|
rs1577544372
|
|
NM_000203.5(IDUA):c.1696C>T (p.Leu566=)
|
rs2153023029
|
|
NM_000203.5(IDUA):c.1707G>A (p.Ser569=)
|
|
|
NM_000203.5(IDUA):c.1707G>T (p.Ser569=)
|
|
|
NM_000203.5(IDUA):c.1722C>T (p.Gly574=)
|
rs1307428521
|
|
NM_000203.5(IDUA):c.1727+13G>A
|
|
|
NM_000203.5(IDUA):c.1727+14G>C
|
|
|
NM_000203.5(IDUA):c.1727+17G>A
|
|
|
NM_000203.5(IDUA):c.1727+17G>T
|
|
|
NM_000203.5(IDUA):c.1727+18C>T
|
|
|
NM_000203.5(IDUA):c.1727+19_1727+21del
|
|
|
NM_000203.5(IDUA):c.1727+7G>A
|
rs1167057119
|
|
NM_000203.5(IDUA):c.1727+9G>A
|
rs771420258
|
|
NM_000203.5(IDUA):c.1727+9G>T
|
rs771420258
|
|
NM_000203.5(IDUA):c.1728-18T>C
|
|
|
NM_000203.5(IDUA):c.1728-3dup
|
rs2153023160
|
|
NM_000203.5(IDUA):c.1728-4C>A
|
rs775914231
|
|
NM_000203.5(IDUA):c.1728-4_1728-3del
|
rs2153023160
|
|
NM_000203.5(IDUA):c.1728-8C>T
|
rs2153023159
|
|
NM_000203.5(IDUA):c.1740A>T (p.Thr580=)
|
rs1577545150
|
|
NM_000203.5(IDUA):c.1743C>T (p.Tyr581=)
|
rs776787370
|
|
NM_000203.5(IDUA):c.1758T>C (p.Ser586=)
|
rs766308077
|
|
NM_000203.5(IDUA):c.1761G>A (p.Gln587=)
|
rs1715292284
|
|
NM_000203.5(IDUA):c.1770G>A (p.Lys590=)
|
rs2153023181
|
|
NM_000203.5(IDUA):c.1773G>T (p.Ala591=)
|
rs148894462
|
|
NM_000203.5(IDUA):c.1779C>A (p.Thr593=)
|
rs2153023191
|
|
NM_000203.5(IDUA):c.1779C>T (p.Thr593=)
|
|
|
NM_000203.5(IDUA):c.1782G>A (p.Pro594=)
|
rs781543137
|
|
NM_000203.5(IDUA):c.1782G>C (p.Pro594=)
|
|
|
NM_000203.5(IDUA):c.1809C>T (p.Asn603=)
|
rs2153023208
|
|
NM_000203.5(IDUA):c.1812C>G (p.Leu604=)
|
|
|
NM_000203.5(IDUA):c.1818G>A (p.Val606=)
|
rs1439543893
|
|
NM_000203.5(IDUA):c.1828+12A>C
|
|
|
NM_000203.5(IDUA):c.1828+14C>T
|
|
|
NM_000203.5(IDUA):c.1828+15C>T
|
|
|
NM_000203.5(IDUA):c.1828+15dup
|
|
|
NM_000203.5(IDUA):c.1828+20C>T
|
|
|
NM_000203.5(IDUA):c.1828+8C>A
|
rs2153023217
|
|
NM_000203.5(IDUA):c.1829-12C>T
|
|
|
NM_000203.5(IDUA):c.1829-13C>A
|
rs756441262
|
|
NM_000203.5(IDUA):c.1829-13C>T
|
|
|
NM_000203.5(IDUA):c.1829-14C>A
|
|
|
NM_000203.5(IDUA):c.1829-15del
|
|
|
NM_000203.5(IDUA):c.1829-18A>C
|
|
|
NM_000203.5(IDUA):c.1829-18_1829-17del
|
|
|
NM_000203.5(IDUA):c.1829-4C>G
|
rs757535645
|
|
NM_000203.5(IDUA):c.1829-4C>T
|
rs757535645
|
|
NM_000203.5(IDUA):c.1829-6C>T
|
rs1400504829
|
|
NM_000203.5(IDUA):c.1833A>C (p.Thr611=)
|
rs1296925054
|
|
NM_000203.5(IDUA):c.1836T>G (p.Gly612=)
|
rs1278005228
|
|
NM_000203.5(IDUA):c.1839T>C (p.Ala613=)
|
|
|
NM_000203.5(IDUA):c.183T>A (p.Ala61=)
|
|
|
NM_000203.5(IDUA):c.1848C>T (p.Gly616=)
|
rs2153023273
|
|
NM_000203.5(IDUA):c.1854C>T (p.Tyr618=)
|
|
|
NM_000203.5(IDUA):c.1856G>A (p.Arg619Gln)
|
rs372137794
|
|
NM_000203.5(IDUA):c.1866C>T (p.Ala622=)
|
|
|
NM_000203.5(IDUA):c.1867C>T (p.Leu623=)
|
|
|
NM_000203.5(IDUA):c.1881C>T (p.Ala627=)
|
|
|
NM_000203.5(IDUA):c.1882C>A (p.Arg628=)
|
|
|
NM_000203.5(IDUA):c.1884A>C (p.Arg628=)
|
|
|
NM_000203.5(IDUA):c.1896C>T (p.Phe632=)
|
|
|
NM_000203.5(IDUA):c.18C>T (p.Pro6=)
|
rs1412821087
|
|
NM_000203.5(IDUA):c.1914C>T (p.Tyr638=)
|
rs768467230
|
|
NM_000203.5(IDUA):c.1915C>T (p.Leu639=)
|
|
|
NM_000203.5(IDUA):c.1923C>G (p.Val641=)
|
rs2153023320
|
|
NM_000203.5(IDUA):c.1923C>T (p.Val641=)
|
|
|
NM_000203.5(IDUA):c.1929G>C (p.Val643=)
|
|
|
NM_000203.5(IDUA):c.1932A>G (p.Pro644=)
|
|
|
NM_000203.5(IDUA):c.1936G>C (p.Gly646Arg)
|
|
|
NM_000203.5(IDUA):c.1938G>A (p.Gly646=)
|
|
|
NM_000203.5(IDUA):c.1947C>T (p.Ser649=)
|
|
|
NM_000203.5(IDUA):c.1950G>A (p.Pro650=)
|
|
|
NM_000203.5(IDUA):c.1950G>C (p.Pro650=)
|
|
|
NM_000203.5(IDUA):c.1950G>T (p.Pro650=)
|
rs112884255
|
|
NM_000203.5(IDUA):c.1953C>G (p.Gly651=)
|
rs2153023339
|
|
NM_000203.5(IDUA):c.1959A>T (p.Pro653=)
|
rs1264323702
|
|
NM_000203.5(IDUA):c.21C>A (p.Arg7=)
|
rs1240723907
|
|
NM_000203.5(IDUA):c.225C>T (p.Ala75=)
|
|
|
NM_000203.5(IDUA):c.228T>C (p.Tyr76=)
|
rs2153015654
|
|
NM_000203.5(IDUA):c.246C>T (p.His82=)
|
rs148775298
|
|
NM_000203.5(IDUA):c.249C>A (p.Arg83=)
|
rs765563471
|
|
NM_000203.5(IDUA):c.249C>G (p.Arg83=)
|
|
|
NM_000203.5(IDUA):c.258G>A (p.Lys86=)
|
|
|
NM_000203.5(IDUA):c.267G>A (p.Arg89=)
|
rs2153015687
|
|
NM_000203.5(IDUA):c.270C>T (p.Thr90=)
|
rs1307291779
|
|
NM_000203.5(IDUA):c.27G>A (p.Ala9=)
|
|
|
NM_000203.5(IDUA):c.280C>T (p.Leu94=)
|
|
|
NM_000203.5(IDUA):c.291C>T (p.Val97=)
|
|
|
NM_000203.5(IDUA):c.297C>G (p.Thr99=)
|
rs1713873324
|
|
NM_000203.5(IDUA):c.297C>T (p.Thr99=)
|
rs1713873324
|
|
NM_000203.5(IDUA):c.299+14A>G
|
|
|
NM_000203.5(IDUA):c.299+15G>A
|
|
|
NM_000203.5(IDUA):c.300-10C>T
|
rs753019413
|
|
NM_000203.5(IDUA):c.300-12G>A
|
|
|
NM_000203.5(IDUA):c.300-13C>G
|
|
|
NM_000203.5(IDUA):c.300-13C>T
|
|
|
NM_000203.5(IDUA):c.300-16G>A
|
|
|
NM_000203.5(IDUA):c.300-18C>T
|
|
|
NM_000203.5(IDUA):c.300-4G>A
|
rs2153021604
|
|
NM_000203.5(IDUA):c.300-8T>C
|
|
|
NM_000203.5(IDUA):c.300-8T>G
|
|
|
NM_000203.5(IDUA):c.300-9C>T
|
rs1715011725
|
|
NM_000203.5(IDUA):c.303G>A (p.Gly101=)
|
|
|
NM_000203.5(IDUA):c.303G>T (p.Gly101=)
|
rs753784242
|
|
NM_000203.5(IDUA):c.306C>T (p.Ser102=)
|
rs750244326
|
|
NM_000203.5(IDUA):c.312A>C (p.Gly104=)
|
rs2153021615
|
|
NM_000203.5(IDUA):c.321G>C (p.Leu107=)
|
rs771434526
|
|
NM_000203.5(IDUA):c.324C>T (p.Ser108=)
|
rs1304587706
|
|
NM_000203.5(IDUA):c.330C>T (p.Asn110=)
|
rs1715015617
|
|
NM_000203.5(IDUA):c.33G>T (p.Leu11=)
|
|
|
NM_000203.5(IDUA):c.340C>T (p.Leu114=)
|
|
|
NM_000203.5(IDUA):c.346G>C (p.Gly116Arg)
|
rs148946496
|
|
NM_000203.5(IDUA):c.351C>T (p.Tyr117=)
|
|
|
NM_000203.5(IDUA):c.363C>T (p.Leu121=)
|
|
|
NM_000203.5(IDUA):c.36G>C (p.Ala12=)
|
rs1403980379
|
|
NM_000203.5(IDUA):c.36G>T (p.Ala12=)
|
|
|
NM_000203.5(IDUA):c.378C>G (p.Leu126=)
|
|
|
NM_000203.5(IDUA):c.381C>T (p.Leu127=)
|
|
|
NM_000203.5(IDUA):c.385+11G>T
|
|
|
NM_000203.5(IDUA):c.385+12G>A
|
|
|
NM_000203.5(IDUA):c.385+15C>T
|
|
|
NM_000203.5(IDUA):c.385+19C>A
|
|
|
NM_000203.5(IDUA):c.385+20C>T
|
|
|
NM_000203.5(IDUA):c.385+7T>A
|
rs1361957376
|
|
NM_000203.5(IDUA):c.385+8G>A
|
rs747655234
|
|
NM_000203.5(IDUA):c.385+9T>C
|
|
|
NM_000203.5(IDUA):c.386-12C>T
|
|
|
NM_000203.5(IDUA):c.386-14C>T
|
|
|
NM_000203.5(IDUA):c.386-19C>T
|
rs889094166
|
|
NM_000203.5(IDUA):c.386-4C>A
|
|
|
NM_000203.5(IDUA):c.386-9G>C
|
rs767145073
|
|
NM_000203.5(IDUA):c.394C>T (p.Leu132=)
|
rs1480225127
|
|
NM_000203.5(IDUA):c.402C>A (p.Gly134=)
|
|
|
NM_000203.5(IDUA):c.408C>G (p.Ala136=)
|
rs138195998
|
|
NM_000203.5(IDUA):c.411G>C (p.Ser137=)
|
|
|
NM_000203.5(IDUA):c.414C>G (p.Gly138=)
|
|
|
NM_000203.5(IDUA):c.441G>A (p.Gln147=)
|
rs2153021713
|
|
NM_000203.5(IDUA):c.450T>C (p.Phe150=)
|
rs1230099124
|
|
NM_000203.5(IDUA):c.459G>A (p.Lys153=)
|
|
|
NM_000203.5(IDUA):c.45C>G (p.Ala15=)
|
|
|
NM_000203.5(IDUA):c.463T>C (p.Leu155=)
|
|
|
NM_000203.5(IDUA):c.468C>G (p.Val156=)
|
rs763532209
|
|
NM_000203.5(IDUA):c.474C>T (p.Ser158=)
|
rs1473137019
|
|
NM_000203.5(IDUA):c.475C>T (p.Leu159=)
|
rs1237146626
|
|
NM_000203.5(IDUA):c.48G>C (p.Ser16=)
|
rs2153015172
|
|
NM_000203.5(IDUA):c.493+10C>A
|
|
|
NM_000203.5(IDUA):c.493+11G>A
|
|
|
NM_000203.5(IDUA):c.493+16C>A
|
|
|
NM_000203.5(IDUA):c.493+17C>T
|
|
|
NM_000203.5(IDUA):c.493+18C>A
|
|
|
NM_000203.5(IDUA):c.493+18C>T
|
|
|
NM_000203.5(IDUA):c.493+20G>T
|
|
|
NM_000203.5(IDUA):c.493+7_493+8delinsAG
|
rs2153021739
|
|
NM_000203.5(IDUA):c.494-11C>G
|
|
|
NM_000203.5(IDUA):c.494-12G>C
|
rs761396518
|
|
NM_000203.5(IDUA):c.494-19C>T
|
|
|
NM_000203.5(IDUA):c.494-4G>C
|
|
|
NM_000203.5(IDUA):c.494-6C>T
|
|
|
NM_000203.5(IDUA):c.505C>T (p.Leu169=)
|
rs756471914
|
|
NM_000203.5(IDUA):c.507G>A (p.Leu169=)
|
|
|
NM_000203.5(IDUA):c.510G>C (p.Ala170=)
|
rs754039388
|
|
NM_000203.5(IDUA):c.510G>T (p.Ala170=)
|
rs754039388
|
|
NM_000203.5(IDUA):c.516T>C (p.Val172=)
|
rs746986558
|
|
NM_000203.5(IDUA):c.52C>T (p.Leu18=)
|
rs2153015176
|
|
NM_000203.5(IDUA):c.531C>T (p.Phe177=)
|
rs769331894
|
|
NM_000203.5(IDUA):c.537G>T (p.Thr179=)
|
rs761106308
|
|
NM_000203.5(IDUA):c.549A>G (p.Pro183=)
|
|
|
NM_000203.5(IDUA):c.54G>A (p.Leu18=)
|
|
|
NM_000203.5(IDUA):c.558C>T (p.His186=)
|
rs1164118339
|
|
NM_000203.5(IDUA):c.567C>T (p.Asp189=)
|
|
|
NM_000203.5(IDUA):c.570C>T (p.Asn190=)
|
|
|
NM_000203.5(IDUA):c.573C>G (p.Val191=)
|
|
|
NM_000203.5(IDUA):c.573C>T (p.Val191=)
|
rs1560546652
|
|
NM_000203.5(IDUA):c.589+17G>A
|
rs2153021928
|
|
NM_000203.5(IDUA):c.589+20G>T
|
|
|
NM_000203.5(IDUA):c.589+7A>C
|
|
|
NM_000203.5(IDUA):c.589+7A>G
|
|
|
NM_000203.5(IDUA):c.589+8C>A
|
|
|
NM_000203.5(IDUA):c.590-11C>A
|
|
|
NM_000203.5(IDUA):c.590-16T>C
|
|
|
NM_000203.5(IDUA):c.590-18A>C
|
rs1201137456
|
|
NM_000203.5(IDUA):c.590-19C>A
|
|
|
NM_000203.5(IDUA):c.590-20G>C
|
|
|
NM_000203.5(IDUA):c.590-4C>A
|
rs369299361
|
|
NM_000203.5(IDUA):c.590-4C>T
|
rs369299361
|
|
NM_000203.5(IDUA):c.590-8C>G
|
rs6848974
|
|
NM_000203.5(IDUA):c.590-9_590-8delinsTT
|
rs2153021960
|
|
NM_000203.5(IDUA):c.595C>T (p.Leu199=)
|
|
|
NM_000203.5(IDUA):c.597G>A (p.Leu199=)
|
rs190934144
|
|
NM_000203.5(IDUA):c.597G>C (p.Leu199=)
|
rs190934144
|
|
NM_000203.5(IDUA):c.597G>T (p.Leu199=)
|
rs190934144
|
|
NM_000203.5(IDUA):c.603C>T (p.Tyr201=)
|
|
|
NM_000203.5(IDUA):c.606C>T (p.Tyr202=)
|
rs1033313360
|
|
NM_000203.5(IDUA):c.612C>G (p.Ala204=)
|
|
|
NM_000203.5(IDUA):c.612C>T (p.Ala204=)
|
rs372948062
|
|
NM_000203.5(IDUA):c.618G>A (p.Ser206=)
|
rs377312287
|
|
NM_000203.5(IDUA):c.618G>C (p.Ser206=)
|
rs377312287
|
|
NM_000203.5(IDUA):c.618G>T (p.Ser206=)
|
rs377312287
|
|
NM_000203.5(IDUA):c.625C>T (p.Leu209=)
|
rs2153021997
|
|
NM_000203.5(IDUA):c.627G>A (p.Leu209=)
|
rs2153021998
|
|
NM_000203.5(IDUA):c.633C>T (p.Ala211=)
|
|
|
NM_000203.5(IDUA):c.639C>T (p.Ser213=)
|
rs1383674405
|
|
NM_000203.5(IDUA):c.63C>A (p.Pro21=)
|
rs2153015191
|
|
NM_000203.5(IDUA):c.642C>T (p.Pro214=)
|
|
|
NM_000203.5(IDUA):c.649C>A (p.Arg217=)
|
rs1178237301
|
|
NM_000203.5(IDUA):c.651G>A (p.Arg217=)
|
|
|
NM_000203.5(IDUA):c.654G>A (p.Leu218=)
|
|
|
NM_000203.5(IDUA):c.660C>A (p.Gly220=)
|
|
|
NM_000203.5(IDUA):c.663C>T (p.Pro221=)
|
rs368553582
|
|
NM_000203.5(IDUA):c.666C>G (p.Gly222=)
|
|
|
NM_000203.5(IDUA):c.675C>T (p.Phe225=)
|
rs767436466
|
|
NM_000203.5(IDUA):c.678C>T (p.His226=)
|
rs2153022041
|
|
NM_000203.5(IDUA):c.681C>G (p.Thr227=)
|
|
|
NM_000203.5(IDUA):c.687G>A (p.Pro229=)
|
rs1488689927
|
|
NM_000203.5(IDUA):c.687G>T (p.Pro229=)
|
rs1488689927
|
|
NM_000203.5(IDUA):c.693C>A (p.Ser231=)
|
rs529773032
|
|
NM_000203.5(IDUA):c.693C>G (p.Ser231=)
|
|
|
NM_000203.5(IDUA):c.696G>A (p.Pro232=)
|
rs1715094235
|
|
NM_000203.5(IDUA):c.6T>C (p.Arg2=)
|
|
|
NM_000203.5(IDUA):c.702C>T (p.Ser234=)
|
|
|
NM_000203.5(IDUA):c.712C>T (p.Leu238=)
|
|
|
NM_000203.5(IDUA):c.714G>T (p.Leu238=)
|
rs1295602141
|
|
NM_000203.5(IDUA):c.72C>G (p.Ala24=)
|
|
|
NM_000203.5(IDUA):c.735C>T (p.Thr245=)
|
|
|
NM_000203.5(IDUA):c.747T>C (p.Thr249=)
|
|
|
NM_000203.5(IDUA):c.750G>C (p.Gly250=)
|
|
|
NM_000203.5(IDUA):c.753G>A (p.Glu251=)
|
rs1471525812
|
|
NM_000203.5(IDUA):c.774C>T (p.Tyr258=)
|
|
|
NM_000203.5(IDUA):c.777C>T (p.Ile259=)
|
|
|
NM_000203.5(IDUA):c.78C>G (p.Ala26=)
|
|
|
NM_000203.5(IDUA):c.78C>T (p.Ala26=)
|
|
|
NM_000203.5(IDUA):c.792+10G>A
|
rs1013190604
|
|
NM_000203.5(IDUA):c.792+13C>T
|
|
|
NM_000203.5(IDUA):c.792+14C>T
|
|
|
NM_000203.5(IDUA):c.792+16C>A
|
|
|
NM_000203.5(IDUA):c.792+17C>A
|
|
|
NM_000203.5(IDUA):c.792+18G>A
|
|
|
NM_000203.5(IDUA):c.792+18G>C
|
rs1413309758
|
|
NM_000203.5(IDUA):c.792+20C>T
|
|
|
NM_000203.5(IDUA):c.792+9T>G
|
|
|
NM_000203.5(IDUA):c.793-13G>A
|
rs2153022144
|
|
NM_000203.5(IDUA):c.793-7C>T
|
|
|
NM_000203.5(IDUA):c.793-9C>T
|
rs375798875
|
|
NM_000203.5(IDUA):c.798G>A (p.Ala266=)
|
rs2153022159
|
|
NM_000203.5(IDUA):c.798G>T (p.Ala266=)
|
rs2153022159
|
|
NM_000203.5(IDUA):c.801C>A (p.Arg267=)
|
rs751167219
|
|
NM_000203.5(IDUA):c.804C>T (p.Ser268=)
|
rs1353776736
|
|
NM_000203.5(IDUA):c.816C>T (p.Ile272=)
|
rs1379813895
|
|
NM_000203.5(IDUA):c.817C>T (p.Leu273=)
|
rs2153022167
|
|
NM_000203.5(IDUA):c.834C>A (p.Val278=)
|
rs1308432668
|
|
NM_000203.5(IDUA):c.837C>A (p.Val279=)
|
rs758749484
|
|
NM_000203.5(IDUA):c.837C>T (p.Val279=)
|
rs758749484
|
|
NM_000203.5(IDUA):c.840G>C (p.Ala280=)
|
rs2153022177
|
|
NM_000203.5(IDUA):c.846G>A (p.Gln282=)
|
rs747168143
|
|
NM_000203.5(IDUA):c.849C>T (p.Ile283=)
|
|
|
NM_000203.5(IDUA):c.850C>A (p.Arg284=)
|
rs1426919426
|
|
NM_000203.5(IDUA):c.852G>A (p.Arg284=)
|
|
|
NM_000203.5(IDUA):c.852G>C (p.Arg284=)
|
rs2153022186
|
|
NM_000203.5(IDUA):c.855G>A (p.Gln285=)
|
rs781622799
|
|
NM_000203.5(IDUA):c.858C>T (p.Leu286=)
|
rs1577540331
|
|
NM_000203.5(IDUA):c.861C>T (p.Phe287=)
|
rs1715117035
|
|
NM_000203.5(IDUA):c.864C>T (p.Pro288=)
|
rs1440415618
|
|
NM_000203.5(IDUA):c.870C>T (p.Phe290=)
|
|
|
NM_000203.5(IDUA):c.879C>A (p.Thr293=)
|
rs1472617552
|
|
NM_000203.5(IDUA):c.879C>G (p.Thr293=)
|
|
|
NM_000203.5(IDUA):c.888C>T (p.Tyr296=)
|
rs1463865220
|
|
NM_000203.5(IDUA):c.900G>A (p.Ala300=)
|
rs1715120552
|
|
NM_000203.5(IDUA):c.900G>T (p.Ala300=)
|
|
|
NM_000203.5(IDUA):c.915C>A (p.Gly305=)
|
|
|
NM_000203.5(IDUA):c.915C>G (p.Gly305=)
|
rs1245130094
|
|
NM_000203.5(IDUA):c.927A>G (p.Pro309=)
|
|
|
NM_000203.5(IDUA):c.927A>T (p.Pro309=)
|
|
|
NM_000203.5(IDUA):c.93G>A (p.Leu31=)
|
rs2153015210
|
|
NM_000203.5(IDUA):c.942G>A (p.Ala314=)
|
rs6830825
|
|
NM_000203.5(IDUA):c.948G>C (p.Val316=)
|
rs1463496008
|
|
NM_000203.5(IDUA):c.951C>G (p.Thr317=)
|
|
|
NM_000203.5(IDUA):c.951C>T (p.Thr317=)
|
rs1577540556
|
|
NM_000203.5(IDUA):c.954C>T (p.Tyr318=)
|
rs1400939830
|
|
NM_000203.5(IDUA):c.96G>T (p.Val32=)
|
rs991986320
|
|
NM_000203.5(IDUA):c.972+10C>A
|
|
|
NM_000203.5(IDUA):c.972+10C>T
|
|
|
NM_000203.5(IDUA):c.972+11C>T
|
|
|
NM_000203.5(IDUA):c.972+12C>T
|
|
|
NM_000203.5(IDUA):c.972+12_972+20del
|
|
|
NM_000203.5(IDUA):c.972+18C>T
|
|
|
NM_000203.5(IDUA):c.972+7C>A
|
rs2153022267
|
|
NM_000203.5(IDUA):c.972+7C>G
|
|
|
NM_000203.5(IDUA):c.972+7C>T
|
|
|
NM_000203.5(IDUA):c.972+9G>A
|
|
|
NM_000203.5(IDUA):c.973-11G>T
|
rs1383531589
|
|
NM_000203.5(IDUA):c.973-14C>G
|
|
|
NM_000203.5(IDUA):c.973-15C>T
|
|
|
NM_000203.5(IDUA):c.973-17G>A
|
|
|
NM_000203.5(IDUA):c.973-5C>T
|
|
|
NM_000203.5(IDUA):c.975C>A (p.Val325=)
|
rs2153022311
|
|
NM_000203.5(IDUA):c.981G>C (p.Ala327=)
|
|
|
NM_000203.5(IDUA):c.996G>A (p.Leu332=)
|
|
|
NM_000203.5(IDUA):c.996G>C (p.Leu332=)
|
rs1052930401
|
|
NM_000203.5(IDUA):c.9C>T (p.Pro3=)
|
|
|
NM_000262.3(NAGA):c.1008C>T (p.Ser336=)
|
|
|
NM_000262.3(NAGA):c.102A>G (p.Glu34=)
|
|
|
NM_000262.3(NAGA):c.1035C>T (p.Thr345=)
|
|
|
NM_000262.3(NAGA):c.1083C>A (p.Thr361=)
|
|
|
NM_000262.3(NAGA):c.1083C>T (p.Thr361=)
|
|
|
NM_000262.3(NAGA):c.1089T>G (p.Ser363=)
|
|
|
NM_000262.3(NAGA):c.1098T>C (p.Tyr366=)
|
|
|
NM_000262.3(NAGA):c.1101+10C>G
|
|
|
NM_000262.3(NAGA):c.1101+10C>T
|
|
|
NM_000262.3(NAGA):c.1101+11G>A
|
|
|
NM_000262.3(NAGA):c.1101+11G>C
|
|
|
NM_000262.3(NAGA):c.1102-10C>A
|
|
|
NM_000262.3(NAGA):c.1102-18T>C
|
|
|
NM_000262.3(NAGA):c.1102-7A>G
|
|
|
NM_000262.3(NAGA):c.1102-8C>T
|
|
|
NM_000262.3(NAGA):c.1102-9C>T
|
|
|
NM_000262.3(NAGA):c.1104C>T (p.Ala368=)
|
|
|
NM_000262.3(NAGA):c.111C>T (p.Arg37=)
|
|
|
NM_000262.3(NAGA):c.1182G>A (p.Gly394=)
|
|
|
NM_000262.3(NAGA):c.1197C>T (p.Tyr399=)
|
|
|
NM_000262.3(NAGA):c.1233G>A (p.Gln411=)
|
|
|
NM_000262.3(NAGA):c.126T>C (p.Cys42=)
|
|
|
NM_000262.3(NAGA):c.129T>C (p.Asp43=)
|
|
|
NM_000262.3(NAGA):c.141G>A (p.Lys47=)
|
|
|
NM_000262.3(NAGA):c.147C>T (p.Cys49=)
|
|
|
NM_000262.3(NAGA):c.150A>C (p.Ile50=)
|
|
|
NM_000262.3(NAGA):c.152+12C>T
|
|
|
NM_000262.3(NAGA):c.152+16A>G
|
|
|
NM_000262.3(NAGA):c.152+17C>A
|
|
|
NM_000262.3(NAGA):c.152+17C>G
|
|
|
NM_000262.3(NAGA):c.152+18_152+21del
|
|
|
NM_000262.3(NAGA):c.153-15T>C
|
|
|
NM_000262.3(NAGA):c.153-16C>T
|
|
|
NM_000262.3(NAGA):c.153-20A>T
|
|
|
NM_000262.3(NAGA):c.153-6C>G
|
|
|
NM_000262.3(NAGA):c.153-9C>T
|
|
|
NM_000262.3(NAGA):c.156A>G (p.Glu52=)
|
|
|
NM_000262.3(NAGA):c.16+12G>A
|
|
|
NM_000262.3(NAGA):c.16+16G>T
|
|
|
NM_000262.3(NAGA):c.16+8C>T
|
|
|
NM_000262.3(NAGA):c.17-12C>T
|
|
|
NM_000262.3(NAGA):c.17-13C>T
|
rs2146845518
|
|
NM_000262.3(NAGA):c.17-14C>T
|
|
|
NM_000262.3(NAGA):c.17-16C>T
|
|
|
NM_000262.3(NAGA):c.17-19C>G
|
|
|
NM_000262.3(NAGA):c.17-4C>T
|
|
|
NM_000262.3(NAGA):c.17-5C>G
|
|
|
NM_000262.3(NAGA):c.17-5C>T
|
|
|
NM_000262.3(NAGA):c.171G>A (p.Glu57=)
|
|
|
NM_000262.3(NAGA):c.183G>T (p.Arg61=)
|
|
|
NM_000262.3(NAGA):c.189A>C (p.Ala63=)
|
|
|
NM_000262.3(NAGA):c.213C>T (p.Gly71=)
|
|
|
NM_000262.3(NAGA):c.234T>C (p.Asp78=)
|
|
|
NM_000262.3(NAGA):c.246C>A (p.Ile82=)
|
|
|
NM_000262.3(NAGA):c.246C>T (p.Ile82=)
|
|
|
NM_000262.3(NAGA):c.255C>T (p.Arg85=)
|
|
|
NM_000262.3(NAGA):c.261C>T (p.Ala87=)
|
|
|
NM_000262.3(NAGA):c.270C>T (p.Arg90=)
|
|
|
NM_000262.3(NAGA):c.291C>T (p.Arg97=)
|
rs1464598696
|
|
NM_000262.3(NAGA):c.312C>T (p.Phe104=)
|
|
|
NM_000262.3(NAGA):c.324+13C>A
|
|
|
NM_000262.3(NAGA):c.324+15A>G
|
|
|
NM_000262.3(NAGA):c.324+17C>T
|
|
|
NM_000262.3(NAGA):c.324+8G>A
|
|
|
NM_000262.3(NAGA):c.324+8G>T
|
|
|
NM_000262.3(NAGA):c.325-10A>T
|
|
|
NM_000262.3(NAGA):c.325-19T>C
|
|
|
NM_000262.3(NAGA):c.325-21_325-3del
|
|
|
NM_000262.3(NAGA):c.325-5C>G
|
|
|
NM_000262.3(NAGA):c.325-5C>T
|
|
|
NM_000262.3(NAGA):c.325-8C>T
|
|
|
NM_000262.3(NAGA):c.333C>T (p.Ser111=)
|
|
|
NM_000262.3(NAGA):c.33T>C (p.His11=)
|
|
|
NM_000262.3(NAGA):c.357C>T (p.Tyr119=)
|
|
|
NM_000262.3(NAGA):c.369C>T (p.Gly123=)
|
|
|
NM_000262.3(NAGA):c.375C>T (p.Phe125=)
|
|
|
NM_000262.3(NAGA):c.411G>A (p.Lys137=)
|
|
|
NM_000262.3(NAGA):c.435C>T (p.Phe145=)
|
|
|
NM_000262.3(NAGA):c.438C>G (p.Ala146=)
|
rs376622171
|
|
NM_000262.3(NAGA):c.438C>T (p.Ala146=)
|
|
|
NM_000262.3(NAGA):c.459C>G (p.Leu153=)
|
|
|
NM_000262.3(NAGA):c.459C>T (p.Leu153=)
|
|
|
NM_000262.3(NAGA):c.468T>C (p.Asp156=)
|
|
|
NM_000262.3(NAGA):c.480C>T (p.Ser160=)
|
|
|
NM_000262.3(NAGA):c.486C>G (p.Pro162=)
|
rs760003063
|
|
NM_000262.3(NAGA):c.498C>T (p.Ala166=)
|
|
|
NM_000262.3(NAGA):c.502+10G>A
|
|
|
NM_000262.3(NAGA):c.502+10G>C
|
|
|
NM_000262.3(NAGA):c.502+16G>A
|
|
|
NM_000262.3(NAGA):c.502+17G>T
|
|
|
NM_000262.3(NAGA):c.502+18C>A
|
|
|
NM_000262.3(NAGA):c.502+19T>G
|
|
|
NM_000262.3(NAGA):c.502+7T>C
|
|
|
NM_000262.3(NAGA):c.502+8dup
|
|
|
NM_000262.3(NAGA):c.503-8T>C
|
|
|
NM_000262.3(NAGA):c.504G>A (p.Gly168=)
|
|
|
NM_000262.3(NAGA):c.507C>T (p.Tyr169=)
|
|
|
NM_000262.3(NAGA):c.543C>T (p.Arg181=)
|
|
|
NM_000262.3(NAGA):c.546C>T (p.Pro182=)
|
|
|
NM_000262.3(NAGA):c.573C>T (p.Ala191=)
|
rs2146842828
|
|
NM_000262.3(NAGA):c.57C>T (p.Asp19=)
|
|
|
NM_000262.3(NAGA):c.585C>G (p.Gly195=)
|
|
|
NM_000262.3(NAGA):c.585C>T (p.Gly195=)
|
|
|
NM_000262.3(NAGA):c.588C>T (p.Leu196=)
|
|
|
NM_000262.3(NAGA):c.591C>A (p.Pro197=)
|
|
|
NM_000262.3(NAGA):c.591C>G (p.Pro197=)
|
|
|
NM_000262.3(NAGA):c.591C>T (p.Pro197=)
|
|
|
NM_000262.3(NAGA):c.595A>C (p.Arg199=)
|
|
|
NM_000262.3(NAGA):c.597+17C>G
|
|
|
NM_000262.3(NAGA):c.597+17C>T
|
|
|
NM_000262.3(NAGA):c.597+19T>A
|
|
|
NM_000262.3(NAGA):c.597+7C>A
|
|
|
NM_000262.3(NAGA):c.598-17T>C
|
|
|
NM_000262.3(NAGA):c.598-20G>A
|
|
|
NM_000262.3(NAGA):c.598-5T>C
|
|
|
NM_000262.3(NAGA):c.648T>C (p.Asp216=)
|
|
|
NM_000262.3(NAGA):c.651C>T (p.Asp217=)
|
|
|
NM_000262.3(NAGA):c.660C>T (p.Asp220=)
|
|
|
NM_000262.3(NAGA):c.66C>T (p.Leu22=)
|
|
|
NM_000262.3(NAGA):c.672C>T (p.Ser224=)
|
|
|
NM_000262.3(NAGA):c.675G>T (p.Val225=)
|
|
|
NM_000262.3(NAGA):c.678C>G (p.Leu226=)
|
|
|
NM_000262.3(NAGA):c.685C>T (p.Leu229=)
|
|
|
NM_000262.3(NAGA):c.687G>A (p.Leu229=)
|
|
|
NM_000262.3(NAGA):c.696C>T (p.Phe232=)
|
|
|
NM_000262.3(NAGA):c.702G>A (p.Glu234=)
|
|
|
NM_000262.3(NAGA):c.729C>T (p.Ala243=)
|
|
|
NM_000262.3(NAGA):c.732C>T (p.Gly244=)
|
|
|
NM_000262.3(NAGA):c.753T>C (p.Pro251=)
|
|
|
NM_000262.3(NAGA):c.759+11G>A
|
|
|
NM_000262.3(NAGA):c.759+14G>A
|
|
|
NM_000262.3(NAGA):c.759+18G>A
|
|
|
NM_000262.3(NAGA):c.760-13T>C
|
|
|
NM_000262.3(NAGA):c.760-17C>G
|
|
|
NM_000262.3(NAGA):c.760-17_760-15del
|
|
|
NM_000262.3(NAGA):c.760-5C>A
|
|
|
NM_000262.3(NAGA):c.760-9T>C
|
|
|
NM_000262.3(NAGA):c.765C>A (p.Leu255=)
|
|
|
NM_000262.3(NAGA):c.774C>T (p.Asn258=)
|
|
|
NM_000262.3(NAGA):c.780T>C (p.Gly260=)
|
|
|
NM_000262.3(NAGA):c.78A>T (p.Pro26=)
|
|
|
NM_000262.3(NAGA):c.801G>A (p.Arg267=)
|
|
|
NM_000262.3(NAGA):c.816G>T (p.Leu272=)
|
|
|
NM_000262.3(NAGA):c.834C>A (p.Ala278=)
|
|
|
NM_000262.3(NAGA):c.837C>G (p.Pro279=)
|
rs149066012
|
|
NM_000262.3(NAGA):c.840C>A (p.Leu280=)
|
|
|
NM_000262.3(NAGA):c.843G>A (p.Leu281=)
|
|
|
NM_000262.3(NAGA):c.849C>T (p.Ser283=)
|
|
|
NM_000262.3(NAGA):c.867C>T (p.Ile289=)
|
|
|
NM_000262.3(NAGA):c.870C>T (p.Ser290=)
|
|
|
NM_000262.3(NAGA):c.879C>T (p.Asn293=)
|
|
|
NM_000262.3(NAGA):c.894G>A (p.Gln298=)
|
|
|
NM_000262.3(NAGA):c.903C>G (p.Leu301=)
|
|
|
NM_000262.3(NAGA):c.903C>T (p.Leu301=)
|
rs765754053
|
|
NM_000262.3(NAGA):c.928T>C (p.Leu310=)
|
|
|
NM_000262.3(NAGA):c.939G>A (p.Gln313=)
|
|
|
NM_000262.3(NAGA):c.957+13G>A
|
|
|
NM_000262.3(NAGA):c.957+16G>A
|
|
|
NM_000262.3(NAGA):c.958-12T>A
|
|
|
NM_000262.3(NAGA):c.958-14C>T
|
|
|
NM_000262.3(NAGA):c.958-16C>T
|
|
|
NM_000262.3(NAGA):c.958-20T>G
|
|
|
NM_000262.3(NAGA):c.958-6G>A
|
|
|
NM_000262.3(NAGA):c.958-7T>C
|
|
|
NM_000262.3(NAGA):c.958-8G>A
|
|
|
NM_000262.3(NAGA):c.972C>T (p.Ile324=)
|
|
|
NM_000263.4(NAGLU):c.1017T>C (p.Thr339=)
|
rs2143100146
|
|
NM_000263.4(NAGLU):c.1021+11T>A
|
|
|
NM_000263.4(NAGLU):c.1021+13G>C
|
|
|
NM_000263.4(NAGLU):c.1021+15T>G
|
rs149434978
|
|
NM_000263.4(NAGLU):c.1021+16G>A
|
|
|
NM_000263.4(NAGLU):c.1021+9C>T
|
|
|
NM_000263.4(NAGLU):c.1022-10C>G
|
|
|
NM_000263.4(NAGLU):c.1022-14C>T
|
|
|
NM_000263.4(NAGLU):c.1022-17C>G
|
|
|
NM_000263.4(NAGLU):c.1022-18C>A
|
|
|
NM_000263.4(NAGLU):c.1022-20C>T
|
rs1294766961
|
|
NM_000263.4(NAGLU):c.1022-8G>A
|
rs2092925422
|
|
NM_000263.4(NAGLU):c.1023G>T (p.Val341=)
|
rs1267291000
|
|
NM_000263.4(NAGLU):c.1044G>A (p.Leu348=)
|
|
|
NM_000263.4(NAGLU):c.1044G>T (p.Leu348=)
|
rs776863513
|
|
NM_000263.4(NAGLU):c.1047C>A (p.Leu349=)
|
rs2143107360
|
|
NM_000263.4(NAGLU):c.1050A>G (p.Gln350=)
|
|
|
NM_000263.4(NAGLU):c.1086G>C (p.Gly362=)
|
|
|
NM_000263.4(NAGLU):c.1086G>T (p.Gly362=)
|
|
|
NM_000263.4(NAGLU):c.1089C>T (p.Pro363=)
|
rs778956418
|
|
NM_000263.4(NAGLU):c.108G>T (p.Val36=)
|
rs2092906054
|
|
NM_000263.4(NAGLU):c.1095G>A (p.Gln365=)
|
|
|
NM_000263.4(NAGLU):c.1110G>A (p.Leu370=)
|
rs2143107804
|
|
NM_000263.4(NAGLU):c.1116T>C (p.Ala372=)
|
|
|
NM_000263.4(NAGLU):c.111C>G (p.Ala37=)
|
rs2143075712
|
|
NM_000263.4(NAGLU):c.1122C>A (p.Pro374=)
|
|
|
NM_000263.4(NAGLU):c.1134C>G (p.Leu378=)
|
|
|
NM_000263.4(NAGLU):c.1134C>T (p.Leu378=)
|
|
|
NM_000263.4(NAGLU):c.1140T>A (p.Val380=)
|
|
|
NM_000263.4(NAGLU):c.1149G>A (p.Leu383=)
|
rs2143108047
|
|
NM_000263.4(NAGLU):c.115C>T (p.Leu39=)
|
rs2143075772
|
|
NM_000263.4(NAGLU):c.1179C>T (p.Arg393=)
|
|
|
NM_000263.4(NAGLU):c.1188C>T (p.Ser396=)
|
rs2143108378
|
|
NM_000263.4(NAGLU):c.1203C>G (p.Pro401=)
|
|
|
NM_000263.4(NAGLU):c.120G>A (p.Leu40=)
|
|
|
NM_000263.4(NAGLU):c.120G>T (p.Leu40=)
|
rs2143075800
|
|
NM_000263.4(NAGLU):c.1221G>T (p.Leu407=)
|
|
|
NM_000263.4(NAGLU):c.123G>T (p.Gly41=)
|
rs1170826218
|
|
NM_000263.4(NAGLU):c.1245T>C (p.Gly415=)
|
|
|
NM_000263.4(NAGLU):c.1254A>T (p.Gly418=)
|
|
|
NM_000263.4(NAGLU):c.1257C>T (p.Ala419=)
|
rs2143108736
|
|
NM_000263.4(NAGLU):c.1263G>A (p.Glu421=)
|
|
|
NM_000263.4(NAGLU):c.1269G>A (p.Val423=)
|
rs2143108842
|
|
NM_000263.4(NAGLU):c.126A>G (p.Pro42=)
|
rs1463936178
|
|
NM_000263.4(NAGLU):c.1287T>G (p.Ala429=)
|
rs2143108984
|
|
NM_000263.4(NAGLU):c.1290C>T (p.Ala430=)
|
rs2143109038
|
|
NM_000263.4(NAGLU):c.1293C>T (p.Arg431=)
|
|
|
NM_000263.4(NAGLU):c.1296C>T (p.Leu432=)
|
|
|
NM_000263.4(NAGLU):c.1299C>T (p.Phe433=)
|
rs2143109090
|
|
NM_000263.4(NAGLU):c.129C>A (p.Gly43=)
|
|
|
NM_000263.4(NAGLU):c.12G>A (p.Val4=)
|
|
|
NM_000263.4(NAGLU):c.1302C>G (p.Pro434=)
|
|
|
NM_000263.4(NAGLU):c.1305C>T (p.Asn435=)
|
rs1049139446
|
|
NM_000263.4(NAGLU):c.1311C>G (p.Thr437=)
|
|
|
NM_000263.4(NAGLU):c.1311C>T (p.Thr437=)
|
rs2092926617
|
|
NM_000263.4(NAGLU):c.1323G>A (p.Thr441=)
|
rs751479777
|
|
NM_000263.4(NAGLU):c.132C>A (p.Pro44=)
|
|
|
NM_000263.4(NAGLU):c.132C>G (p.Pro44=)
|
rs1489090930
|
|
NM_000263.4(NAGLU):c.1332C>T (p.Ala444=)
|
rs2143109423
|
|
NM_000263.4(NAGLU):c.1335C>G (p.Pro445=)
|
|
|
NM_000263.4(NAGLU):c.1344C>T (p.Ile448=)
|
rs2092926773
|
|
NM_000263.4(NAGLU):c.1347C>T (p.Ser449=)
|
rs2143109514
|
|
NM_000263.4(NAGLU):c.1359G>A (p.Val453=)
|
|
|
NM_000263.4(NAGLU):c.1359G>T (p.Val453=)
|
|
|
NM_000263.4(NAGLU):c.1371C>T (p.Leu457=)
|
rs1599260897
|
|
NM_000263.4(NAGLU):c.1380G>A (p.Glu460=)
|
|
|
NM_000263.4(NAGLU):c.1386C>G (p.Gly462=)
|
rs1238922003
|
|
NM_000263.4(NAGLU):c.138C>A (p.Ala46=)
|
rs2143075937
|
|
NM_000263.4(NAGLU):c.1407A>G (p.Pro469=)
|
rs1567893530
|
|
NM_000263.4(NAGLU):c.141C>T (p.Asp47=)
|
rs2143075952
|
|
NM_000263.4(NAGLU):c.1431C>T (p.Ser477=)
|
|
|
NM_000263.4(NAGLU):c.1437C>A (p.Ala479=)
|
rs752918057
|
|
NM_000263.4(NAGLU):c.1443G>A (p.Arg481=)
|
|
|
NM_000263.4(NAGLU):c.1444C>A (p.Arg482=)
|
|
|
NM_000263.4(NAGLU):c.1470A>G (p.Ala490=)
|
|
|
NM_000263.4(NAGLU):c.147C>G (p.Ser49=)
|
rs1312501106
|
|
NM_000263.4(NAGLU):c.1488A>C (p.Leu496=)
|
|
|
NM_000263.4(NAGLU):c.1489C>T (p.Leu497=)
|
rs1353058781
|
|
NM_000263.4(NAGLU):c.1491G>C (p.Leu497=)
|
|
|
NM_000263.4(NAGLU):c.1497G>A (p.Arg499=)
|
|
|
NM_000263.4(NAGLU):c.1500T>C (p.Ser500=)
|
rs1225039564
|
|
NM_000263.4(NAGLU):c.1506C>T (p.Tyr502=)
|
|
|
NM_000263.4(NAGLU):c.1509C>T (p.Asn503=)
|
|
|
NM_000263.4(NAGLU):c.1512C>T (p.Cys504=)
|
rs750897125
|
|
NM_000263.4(NAGLU):c.1524C>T (p.Ala508=)
|
|
|
NM_000263.4(NAGLU):c.1533C>T (p.Gly511=)
|
rs768357311
|
|
NM_000263.4(NAGLU):c.1539T>C (p.Asn513=)
|
rs2143111531
|
|
NM_000263.4(NAGLU):c.153G>C (p.Ser51=)
|
rs2143076082
|
|
NM_000263.4(NAGLU):c.153G>T (p.Ser51=)
|
rs2143076082
|
|
NM_000263.4(NAGLU):c.1542T>C (p.Arg514=)
|
rs2143111572
|
|
NM_000263.4(NAGLU):c.1549C>T (p.Leu517=)
|
|
|
NM_000263.4(NAGLU):c.1566C>A (p.Ser522=)
|
|
|
NM_000263.4(NAGLU):c.1569A>G (p.Leu523=)
|
|
|
NM_000263.4(NAGLU):c.1572G>A (p.Gln524=)
|
|
|
NM_000263.4(NAGLU):c.15G>A (p.Ala5=)
|
|
|
NM_000263.4(NAGLU):c.15G>T (p.Ala5=)
|
rs2092905675
|
|
NM_000263.4(NAGLU):c.1614G>A (p.Glu538=)
|
|
|
NM_000263.4(NAGLU):c.1621C>A (p.Arg541=)
|
rs780527821
|
|
NM_000263.4(NAGLU):c.1623G>A (p.Arg541=)
|
rs146438251
|
|
NM_000263.4(NAGLU):c.1623G>C (p.Arg541=)
|
rs146438251
|
|
NM_000263.4(NAGLU):c.1623G>T (p.Arg541=)
|
|
|
NM_000263.4(NAGLU):c.1624C>T (p.Leu542=)
|
rs2143112148
|
|
NM_000263.4(NAGLU):c.1626G>A (p.Leu542=)
|
|
|
NM_000263.4(NAGLU):c.1632C>A (p.Leu544=)
|
rs2143112209
|
|
NM_000263.4(NAGLU):c.1632C>T (p.Leu544=)
|
|
|
NM_000263.4(NAGLU):c.1644C>G (p.Pro548=)
|
rs2143112304
|
|
NM_000263.4(NAGLU):c.1644C>T (p.Pro548=)
|
|
|
NM_000263.4(NAGLU):c.1656C>T (p.Thr552=)
|
rs2143112410
|
|
NM_000263.4(NAGLU):c.165T>C (p.Ala55=)
|
|
|
NM_000263.4(NAGLU):c.1665C>A (p.Ala555=)
|
|
|
NM_000263.4(NAGLU):c.1665C>T (p.Ala555=)
|
|
|
NM_000263.4(NAGLU):c.1677C>T (p.Asp559=)
|
rs760741593
|
|
NM_000263.4(NAGLU):c.1680G>C (p.Leu560=)
|
rs766911974
|
|
NM_000263.4(NAGLU):c.1683G>A (p.Leu561=)
|
|
|
NM_000263.4(NAGLU):c.1686C>T (p.Asp562=)
|
rs2143112704
|
|
NM_000263.4(NAGLU):c.168G>C (p.Leu56=)
|
rs2092906262
|
|
NM_000263.4(NAGLU):c.1692T>C (p.Thr564=)
|
|
|
NM_000263.4(NAGLU):c.1695G>T (p.Arg565=)
|
|
|
NM_000263.4(NAGLU):c.1698G>A (p.Gln566=)
|
|
|
NM_000263.4(NAGLU):c.1701A>G (p.Ala567=)
|
rs535354102
|
|
NM_000263.4(NAGLU):c.1704G>A (p.Val568=)
|
|
|
NM_000263.4(NAGLU):c.1707G>A (p.Gln569=)
|
|
|
NM_000263.4(NAGLU):c.1711C>T (p.Leu571=)
|
|
|
NM_000263.4(NAGLU):c.1719C>T (p.Ser573=)
|
|
|
NM_000263.4(NAGLU):c.1725C>T (p.Tyr575=)
|
|
|
NM_000263.4(NAGLU):c.1728T>C (p.Tyr576=)
|
|
|
NM_000263.4(NAGLU):c.1764G>A (p.Leu588=)
|
|
|
NM_000263.4(NAGLU):c.1766C>T (p.Ala589Val)
|
|
|
NM_000263.4(NAGLU):c.1767C>A (p.Ala589=)
|
|
|
NM_000263.4(NAGLU):c.1767C>T (p.Ala589=)
|
rs2143113512
|
|
NM_000263.4(NAGLU):c.1770C>T (p.Ser590=)
|
rs2143113520
|
|
NM_000263.4(NAGLU):c.1779G>A (p.Arg593=)
|
rs2143113596
|
|
NM_000263.4(NAGLU):c.177G>A (p.Lys59=)
|
rs1288446882
|
|
NM_000263.4(NAGLU):c.1782T>A (p.Ala594=)
|
|
|
NM_000263.4(NAGLU):c.1788C>G (p.Gly596=)
|
rs115166595
|
|
NM_000263.4(NAGLU):c.1794G>A (p.Leu598=)
|
rs753170828
|
|
NM_000263.4(NAGLU):c.1797C>T (p.Ala599=)
|
rs146715254
|
|
NM_000263.4(NAGLU):c.1803G>A (p.Glu601=)
|
|
|
NM_000263.4(NAGLU):c.1806G>A (p.Leu602=)
|
rs2143113802
|
|
NM_000263.4(NAGLU):c.180G>C (p.Pro60=)
|
rs1449219265
|
|
NM_000263.4(NAGLU):c.1812G>A (p.Pro604=)
|
|
|
NM_000263.4(NAGLU):c.1812G>C (p.Pro604=)
|
|
|
NM_000263.4(NAGLU):c.1815A>G (p.Ala605=)
|
|
|
NM_000263.4(NAGLU):c.1824G>A (p.Glu608=)
|
|
|
NM_000263.4(NAGLU):c.1828C>T (p.Leu610=)
|
rs1198292626
|
|
NM_000263.4(NAGLU):c.1833T>G (p.Ala611=)
|
|
|
NM_000263.4(NAGLU):c.183C>A (p.Gly61=)
|
|
|
NM_000263.4(NAGLU):c.183C>G (p.Gly61=)
|
rs2143076268
|
|
NM_000263.4(NAGLU):c.1842C>T (p.Ser614=)
|
|
|
NM_000263.4(NAGLU):c.184T>C (p.Leu62=)
|
|
|
NM_000263.4(NAGLU):c.1852C>T (p.Leu618=)
|
|
|
NM_000263.4(NAGLU):c.1857C>T (p.Gly619=)
|
|
|
NM_000263.4(NAGLU):c.1869G>A (p.Glu623=)
|
|
|
NM_000263.4(NAGLU):c.1881A>G (p.Ala627=)
|
rs2143114281
|
|
NM_000263.4(NAGLU):c.1890C>G (p.Val630=)
|
rs1281727710
|
|
NM_000263.4(NAGLU):c.1890C>T (p.Val630=)
|
rs1281727710
|
|
NM_000263.4(NAGLU):c.1896G>A (p.Glu632=)
|
rs2143114448
|
|
NM_000263.4(NAGLU):c.18G>A (p.Val6=)
|
rs1599253491
|
|
NM_000263.4(NAGLU):c.18G>C (p.Val6=)
|
rs1599253491
|
|
NM_000263.4(NAGLU):c.1929C>A (p.Arg643=)
|
|
|
NM_000263.4(NAGLU):c.192C>T (p.Thr64=)
|
|
|
NM_000263.4(NAGLU):c.1938G>A (p.Leu646=)
|
|
|
NM_000263.4(NAGLU):c.1942T>C (p.Leu648=)
|
|
|
NM_000263.4(NAGLU):c.1950G>A (p.Gly650=)
|
rs2092929943
|
|
NM_000263.4(NAGLU):c.1959C>T (p.Gly653=)
|
|
|
NM_000263.4(NAGLU):c.1965C>A (p.Ile655=)
|
rs1482682282
|
|
NM_000263.4(NAGLU):c.1966C>T (p.Leu656=)
|
|
|
NM_000263.4(NAGLU):c.1977C>T (p.Ala659=)
|
|
|
NM_000263.4(NAGLU):c.1980C>T (p.Asn660=)
|
rs981984204
|
|
NM_000263.4(NAGLU):c.1987C>T (p.Leu663=)
|
|
|
NM_000263.4(NAGLU):c.1998G>A (p.Leu666=)
|
|
|
NM_000263.4(NAGLU):c.2001G>A (p.Val667=)
|
|
|
NM_000263.4(NAGLU):c.2004C>A (p.Ala668=)
|
|
|
NM_000263.4(NAGLU):c.2010C>T (p.Tyr670=)
|
|
|
NM_000263.4(NAGLU):c.201G>A (p.Leu67=)
|
rs2143076387
|
|
NM_000263.4(NAGLU):c.2022C>T (p.Arg674=)
|
rs2143115704
|
|
NM_000263.4(NAGLU):c.2043G>T (p.Ala681=)
|
rs115401566
|
|
NM_000263.4(NAGLU):c.2044C>T (p.Leu682=)
|
|
|
NM_000263.4(NAGLU):c.2046G>A (p.Leu682=)
|
|
|
NM_000263.4(NAGLU):c.2061C>T (p.Ala687=)
|
|
|
NM_000263.4(NAGLU):c.2067C>T (p.Gly689=)
|
|
|
NM_000263.4(NAGLU):c.2070C>T (p.Ile690=)
|
|
|
NM_000263.4(NAGLU):c.2076C>T (p.Phe692=)
|
|
|
NM_000263.4(NAGLU):c.207C>T (p.Gly69=)
|
|
|
NM_000263.4(NAGLU):c.2085C>T (p.His695=)
|
|
|
NM_000263.4(NAGLU):c.2103C>T (p.Val701=)
|
rs2092930566
|
|
NM_000263.4(NAGLU):c.2106C>T (p.Phe702=)
|
rs2092930575
|
|
NM_000263.4(NAGLU):c.210C>T (p.Gly70=)
|
|
|
NM_000263.4(NAGLU):c.213C>T (p.Gly71=)
|
|
|
NM_000263.4(NAGLU):c.2145C>T (p.Tyr715=)
|
|
|
NM_000263.4(NAGLU):c.2154G>A (p.Gln718=)
|
|
|
NM_000263.4(NAGLU):c.2157G>T (p.Pro719=)
|
rs114687267
|
|
NM_000263.4(NAGLU):c.2169T>C (p.Thr723=)
|
rs2143116773
|
|
NM_000263.4(NAGLU):c.219G>A (p.Ala73=)
|
rs2092906518
|
|
NM_000263.4(NAGLU):c.21C>G (p.Ala7=)
|
|
|
NM_000263.4(NAGLU):c.21C>T (p.Ala7=)
|
|
|
NM_000263.4(NAGLU):c.2205C>T (p.Tyr735=)
|
|
|
NM_000263.4(NAGLU):c.2208_2209delinsTG (p.Arg737Gly)
|
rs2092931038
|
|
NM_000263.4(NAGLU):c.2211C>T (p.Arg737=)
|
|
|
NM_000263.4(NAGLU):c.225G>T (p.Val75=)
|
|
|
NM_000263.4(NAGLU):c.234C>T (p.Arg78=)
|
|
|
NM_000263.4(NAGLU):c.243G>T (p.Thr81=)
|
|
|
NM_000263.4(NAGLU):c.249G>A (p.Val83=)
|
|
|
NM_000263.4(NAGLU):c.24G>A (p.Ala8=)
|
|
|
NM_000263.4(NAGLU):c.24G>T (p.Ala8=)
|
|
|
NM_000263.4(NAGLU):c.252G>A (p.Ala84=)
|
|
|
NM_000263.4(NAGLU):c.258C>G (p.Ala86=)
|
rs1381587394
|
|
NM_000263.4(NAGLU):c.258C>T (p.Ala86=)
|
|
|
NM_000263.4(NAGLU):c.261G>T (p.Ala87=)
|
|
|
NM_000263.4(NAGLU):c.265C>T (p.Leu89=)
|
rs2143076945
|
|
NM_000263.4(NAGLU):c.267G>A (p.Leu89=)
|
rs2143076955
|
|
NM_000263.4(NAGLU):c.273C>T (p.Arg91=)
|
rs2143076997
|
|
NM_000263.4(NAGLU):c.27G>T (p.Ala9=)
|
rs1002286212
|
|
NM_000263.4(NAGLU):c.282C>G (p.Arg94=)
|
rs866267579
|
|
NM_000263.4(NAGLU):c.294C>T (p.Gly98=)
|
rs1318421483
|
|
NM_000263.4(NAGLU):c.306C>G (p.Ala102=)
|
|
|
NM_000263.4(NAGLU):c.306C>T (p.Ala102=)
|
|
|
NM_000263.4(NAGLU):c.30G>T (p.Val10=)
|
rs1244442641
|
|
NM_000263.4(NAGLU):c.312C>T (p.Ser104=)
|
|
|
NM_000263.4(NAGLU):c.315C>G (p.Gly105=)
|
rs2143077290
|
|
NM_000263.4(NAGLU):c.318T>G (p.Ser106=)
|
|
|
NM_000263.4(NAGLU):c.321G>A (p.Gln107=)
|
rs779437712
|
|
NM_000263.4(NAGLU):c.322C>T (p.Leu108=)
|
|
|
NM_000263.4(NAGLU):c.327C>A (p.Arg109=)
|
|
|
NM_000263.4(NAGLU):c.327C>T (p.Arg109=)
|
rs2143077380
|
|
NM_000263.4(NAGLU):c.32G>C (p.Gly11Ala)
|
|
|
NM_000263.4(NAGLU):c.339A>T (p.Pro113=)
|
rs2143077498
|
|
NM_000263.4(NAGLU):c.340C>T (p.Leu114=)
|
rs2143077515
|
|
NM_000263.4(NAGLU):c.342G>A (p.Leu114=)
|
rs748632325
|
|
NM_000263.4(NAGLU):c.345A>G (p.Pro115=)
|
rs2092906994
|
|
NM_000263.4(NAGLU):c.348C>G (p.Ala116=)
|
rs559674042
|
|
NM_000263.4(NAGLU):c.351G>A (p.Val117=)
|
|
|
NM_000263.4(NAGLU):c.354G>A (p.Pro118=)
|
|
|
NM_000263.4(NAGLU):c.354G>C (p.Pro118=)
|
rs745433070
|
|
NM_000263.4(NAGLU):c.354G>T (p.Pro118=)
|
|
|
NM_000263.4(NAGLU):c.366C>A (p.Thr122=)
|
rs769313280
|
|
NM_000263.4(NAGLU):c.366C>G (p.Thr122=)
|
rs769313280
|
|
NM_000263.4(NAGLU):c.36C>T (p.Val12=)
|
|
|
NM_000263.4(NAGLU):c.381C>T (p.Asn127=)
|
rs965226394
|
|
NM_000263.4(NAGLU):c.383+10C>G
|
rs1599254060
|
|
NM_000263.4(NAGLU):c.383+10C>T
|
rs1599254060
|
|
NM_000263.4(NAGLU):c.383+11G>A
|
rs2143078004
|
|
NM_000263.4(NAGLU):c.383+13A>G
|
|
|
NM_000263.4(NAGLU):c.383+14G>A
|
|
|
NM_000263.4(NAGLU):c.383+15C>T
|
|
|
NM_000263.4(NAGLU):c.383+16T>A
|
|
|
NM_000263.4(NAGLU):c.383+17T>A
|
|
|
NM_000263.4(NAGLU):c.383+17del
|
|
|
NM_000263.4(NAGLU):c.383+20C>A
|
rs1168068741
|
|
NM_000263.4(NAGLU):c.383+7C>G
|
|
|
NM_000263.4(NAGLU):c.383+8C>G
|
|
|
NM_000263.4(NAGLU):c.384-10C>T
|
rs772996063
|
|
NM_000263.4(NAGLU):c.384-11A>G
|
|
|
NM_000263.4(NAGLU):c.384-12C>A
|
|
|
NM_000263.4(NAGLU):c.384-12C>T
|
|
|
NM_000263.4(NAGLU):c.384-15T>A
|
|
|
NM_000263.4(NAGLU):c.384-18T>C
|
|
|
NM_000263.4(NAGLU):c.384-19C>T
|
|
|
NM_000263.4(NAGLU):c.384-4G>A
|
rs763057510
|
|
NM_000263.4(NAGLU):c.384-4G>T
|
|
|
NM_000263.4(NAGLU):c.384-5C>T
|
rs770061369
|
|
NM_000263.4(NAGLU):c.384-8G>T
|
rs746106558
|
|
NM_000263.4(NAGLU):c.384-9T>C
|
|
|
NM_000263.4(NAGLU):c.390C>G (p.Arg130=)
|
|
|
NM_000263.4(NAGLU):c.39T>G (p.Leu13=)
|
|
|
NM_000263.4(NAGLU):c.402T>C (p.Asn134=)
|
|
|
NM_000263.4(NAGLU):c.444C>T (p.Ala148=)
|
|
|
NM_000263.4(NAGLU):c.44T>C (p.Leu15Pro)
|
|
|
NM_000263.4(NAGLU):c.465C>T (p.Asp155=)
|
|
|
NM_000263.4(NAGLU):c.474G>A (p.Ala158=)
|
|
|
NM_000263.4(NAGLU):c.474G>T (p.Ala158=)
|
rs1052714676
|
|
NM_000263.4(NAGLU):c.483C>T (p.Gly161=)
|
|
|
NM_000263.4(NAGLU):c.489C>T (p.Asn163=)
|
rs2143082353
|
|
NM_000263.4(NAGLU):c.490C>T (p.Leu164=)
|
|
|
NM_000263.4(NAGLU):c.496C>T (p.Leu166=)
|
|
|
NM_000263.4(NAGLU):c.498G>T (p.Leu166=)
|
|
|
NM_000263.4(NAGLU):c.507C>T (p.Ser169=)
|
|
|
NM_000263.4(NAGLU):c.516G>A (p.Glu172=)
|
|
|
NM_000263.4(NAGLU):c.519C>T (p.Ala173=)
|
|
|
NM_000263.4(NAGLU):c.51G>A (p.Gly17=)
|
rs2143075377
|
|
NM_000263.4(NAGLU):c.531+10C>G
|
|
|
NM_000263.4(NAGLU):c.531+12C>T
|
rs989825472
|
|
NM_000263.4(NAGLU):c.531+15T>C
|
|
|
NM_000263.4(NAGLU):c.531+16C>G
|
|
|
NM_000263.4(NAGLU):c.531+17C>T
|
|
|
NM_000263.4(NAGLU):c.531+8C>T
|
|
|
NM_000263.4(NAGLU):c.531+9C>G
|
rs2143082621
|
|
NM_000263.4(NAGLU):c.532-11T>C
|
rs977518446
|
|
NM_000263.4(NAGLU):c.532-11T>G
|
|
|
NM_000263.4(NAGLU):c.532-14C>T
|
|
|
NM_000263.4(NAGLU):c.532-18T>C
|
|
|
NM_000263.4(NAGLU):c.532-19G>T
|
|
|
NM_000263.4(NAGLU):c.532-6C>T
|
|
|
NM_000263.4(NAGLU):c.537C>T (p.Tyr179=)
|
|
|
NM_000263.4(NAGLU):c.543C>G (p.Ala181=)
|
|
|
NM_000263.4(NAGLU):c.543C>T (p.Ala181=)
|
rs2143086433
|
|
NM_000263.4(NAGLU):c.549C>G (p.Gly183=)
|
|
|
NM_000263.4(NAGLU):c.549C>T (p.Gly183=)
|
|
|
NM_000263.4(NAGLU):c.54C>A (p.Ala18=)
|
|
|
NM_000263.4(NAGLU):c.54C>G (p.Ala18=)
|
rs1276497226
|
|
NM_000263.4(NAGLU):c.54C>T (p.Ala18=)
|
|
|
NM_000263.4(NAGLU):c.555C>G (p.Thr185=)
|
|
|
NM_000263.4(NAGLU):c.576C>T (p.Phe192=)
|
|
|
NM_000263.4(NAGLU):c.57G>A (p.Gly19=)
|
rs2143075427
|
|
NM_000263.4(NAGLU):c.588T>G (p.Pro196=)
|
|
|
NM_000263.4(NAGLU):c.594C>T (p.Phe198=)
|
|
|
NM_000263.4(NAGLU):c.606G>A (p.Gly202=)
|
|
|
NM_000263.4(NAGLU):c.607C>A (p.Arg203=)
|
|
|
NM_000263.4(NAGLU):c.60C>T (p.Gly20=)
|
rs1421818277
|
|
NM_000263.4(NAGLU):c.615C>T (p.Gly205=)
|
|
|
NM_000263.4(NAGLU):c.618C>T (p.Asn206=)
|
rs2143086786
|
|
NM_000263.4(NAGLU):c.619C>T (p.Leu207=)
|
rs1052395549
|
|
NM_000263.4(NAGLU):c.621G>A (p.Leu207=)
|
|
|
NM_000263.4(NAGLU):c.63G>A (p.Ala21=)
|
|
|
NM_000263.4(NAGLU):c.642G>A (p.Leu214=)
|
rs1555621747
|
|
NM_000263.4(NAGLU):c.648C>A (p.Pro216=)
|
|
|
NM_000263.4(NAGLU):c.657C>T (p.His219=)
|
rs779235263
|
|
NM_000263.4(NAGLU):c.660C>A (p.Ile220=)
|
|
|
NM_000263.4(NAGLU):c.663G>A (p.Lys221=)
|
|
|
NM_000263.4(NAGLU):c.672C>T (p.Tyr224=)
|
|
|
NM_000263.4(NAGLU):c.678+10T>C
|
|
|
NM_000263.4(NAGLU):c.678+17G>A
|
|
|
NM_000263.4(NAGLU):c.678+7G>C
|
|
|
NM_000263.4(NAGLU):c.678+8G>A
|
rs2143087168
|
|
NM_000263.4(NAGLU):c.678+8del
|
|
|
NM_000263.4(NAGLU):c.679-11T>G
|
|
|
NM_000263.4(NAGLU):c.679-15_679-12del
|
|
|
NM_000263.4(NAGLU):c.679-16C>G
|
|
|
NM_000263.4(NAGLU):c.679-16C>T
|
|
|
NM_000263.4(NAGLU):c.679-18T>A
|
|
|
NM_000263.4(NAGLU):c.679-19C>G
|
|
|
NM_000263.4(NAGLU):c.679-19C>T
|
|
|
NM_000263.4(NAGLU):c.679-20C>T
|
|
|
NM_000263.4(NAGLU):c.679-5T>C
|
rs2143087834
|
|
NM_000263.4(NAGLU):c.679-6C>T
|
|
|
NM_000263.4(NAGLU):c.679-7C>T
|
|
|
NM_000263.4(NAGLU):c.684G>A (p.Arg228=)
|
|
|
NM_000263.4(NAGLU):c.69C>G (p.Gly23=)
|
rs2092905938
|
|
NM_000263.4(NAGLU):c.702C>T (p.Arg234=)
|
rs2092913790
|
|
NM_000263.4(NAGLU):c.717C>T (p.Thr239=)
|
|
|
NM_000263.4(NAGLU):c.720A>C (p.Pro240=)
|
rs892493572
|
|
NM_000263.4(NAGLU):c.732A>C (p.Ala244=)
|
rs200729468
|
|
NM_000263.4(NAGLU):c.738G>A (p.Ala246=)
|
|
|
NM_000263.4(NAGLU):c.738G>C (p.Ala246=)
|
|
|
NM_000263.4(NAGLU):c.744T>C (p.His248=)
|
|
|
NM_000263.4(NAGLU):c.750C>G (p.Pro250=)
|
rs539019626
|
|
NM_000263.4(NAGLU):c.756T>G (p.Ala252=)
|
rs752423543
|
|
NM_000263.4(NAGLU):c.759C>T (p.Val253=)
|
|
|
NM_000263.4(NAGLU):c.762C>A (p.Thr254=)
|
|
|
NM_000263.4(NAGLU):c.762C>T (p.Thr254=)
|
|
|
NM_000263.4(NAGLU):c.764+10C>G
|
|
|
NM_000263.4(NAGLU):c.764+14C>T
|
|
|
NM_000263.4(NAGLU):c.764+16C>T
|
|
|
NM_000263.4(NAGLU):c.764+17C>T
|
|
|
NM_000263.4(NAGLU):c.764+19C>A
|
rs77738617
|
|
NM_000263.4(NAGLU):c.764+19C>T
|
rs77738617
|
|
NM_000263.4(NAGLU):c.764+20C>A
|
|
|
NM_000263.4(NAGLU):c.764+8T>C
|
rs2143088553
|
|
NM_000263.4(NAGLU):c.764+9C>T
|
|
|
NM_000263.4(NAGLU):c.765-12G>C
|
|
|
NM_000263.4(NAGLU):c.765-14T>C
|
|
|
NM_000263.4(NAGLU):c.765-16T>C
|
rs1006672054
|
|
NM_000263.4(NAGLU):c.765-17C>T
|
|
|
NM_000263.4(NAGLU):c.765-4C>T
|
rs755356822
|
|
NM_000263.4(NAGLU):c.765-5A>G
|
|
|
NM_000263.4(NAGLU):c.765-5A>T
|
|
|
NM_000263.4(NAGLU):c.768G>A (p.Val256=)
|
rs2092919944
|
|
NM_000263.4(NAGLU):c.771C>T (p.Phe257=)
|
rs1599258298
|
|
NM_000263.4(NAGLU):c.780C>A (p.Val260=)
|
|
|
NM_000263.4(NAGLU):c.780C>T (p.Val260=)
|
rs1411789843
|
|
NM_000263.4(NAGLU):c.786C>T (p.Val262=)
|
rs1599258325
|
|
NM_000263.4(NAGLU):c.789G>A (p.Thr263=)
|
rs746543896
|
|
NM_000263.4(NAGLU):c.78C>G (p.Ala26=)
|
rs2092905964
|
|
NM_000263.4(NAGLU):c.792G>A (p.Lys264=)
|
rs2092920064
|
|
NM_000263.4(NAGLU):c.801T>C (p.Ser267=)
|
rs2143098123
|
|
NM_000263.4(NAGLU):c.807C>T (p.Gly269=)
|
rs2092920125
|
|
NM_000263.4(NAGLU):c.81G>C (p.Arg27=)
|
rs1021204618
|
|
NM_000263.4(NAGLU):c.81G>T (p.Arg27=)
|
|
|
NM_000263.4(NAGLU):c.831C>T (p.Cys277=)
|
rs1555622008
|
|
NM_000263.4(NAGLU):c.843G>C (p.Leu281=)
|
rs2143098501
|
|
NM_000263.4(NAGLU):c.855C>T (p.Asp285=)
|
|
|
NM_000263.4(NAGLU):c.870C>T (p.Ile290=)
|
|
|
NM_000263.4(NAGLU):c.87G>A (p.Ala29=)
|
rs2092905997
|
|
NM_000263.4(NAGLU):c.882C>T (p.Leu294=)
|
|
|
NM_000263.4(NAGLU):c.886C>T (p.Leu296=)
|
|
|
NM_000263.4(NAGLU):c.888G>A (p.Leu296=)
|
rs2143098928
|
|
NM_000263.4(NAGLU):c.897G>T (p.Leu299=)
|
rs2143098987
|
|
NM_000263.4(NAGLU):c.90G>A (p.Ala30=)
|
rs2143075591
|
|
NM_000263.4(NAGLU):c.927T>C (p.Tyr309=)
|
rs1599258507
|
|
NM_000263.4(NAGLU):c.930G>A (p.Gly310=)
|
|
|
NM_000263.4(NAGLU):c.933C>T (p.Ala311=)
|
rs115888189
|
|
NM_000263.4(NAGLU):c.939T>A (p.Thr313=)
|
|
|
NM_000263.4(NAGLU):c.93C>T (p.Ala31=)
|
|
|
NM_000263.4(NAGLU):c.957A>T (p.Pro319=)
|
rs2143099579
|
|
NM_000263.4(NAGLU):c.963C>A (p.Ser321=)
|
rs760910696
|
|
NM_000263.4(NAGLU):c.966A>C (p.Ser322=)
|
|
|
NM_000263.4(NAGLU):c.969G>A (p.Glu323=)
|
rs1474272372
|
|
NM_000263.4(NAGLU):c.975C>A (p.Ser325=)
|
|
|
NM_000263.4(NAGLU):c.987A>G (p.Ala329=)
|
rs2143099825
|
|
NM_000263.4(NAGLU):c.990C>T (p.Ala330=)
|
|
|
NM_000263.4(NAGLU):c.993C>G (p.Thr331=)
|
|
|
NM_000263.4(NAGLU):c.996T>C (p.Thr332=)
|
rs764483473
|
|
NM_000263.4(NAGLU):c.99G>A (p.Arg33=)
|
rs2143075635
|
|
NM_000263.4(NAGLU):c.9G>A (p.Ala3=)
|
rs1366797084
|
|
NM_000263.4(NAGLU):c.9GGTGGC[3] (p.4VA[3])
|
rs1024697806
|
|
NM_000284.4(PDHA1):c.1008+17A>G
|
|
|
NM_000284.4(PDHA1):c.1008+18T>C
|
|
|
NM_000284.4(PDHA1):c.1008+6_1008+14dup
|
rs2147187474
|
|
NM_000284.4(PDHA1):c.1008+6_1008+28dup
|
rs1455097408
|
|
NM_000284.4(PDHA1):c.1008+6_1008+9dup
|
rs2147187465
|
|
NM_000284.4(PDHA1):c.1008+9_1008+17dup
|
rs1569193552
|
|
NM_000284.4(PDHA1):c.1008+9_1008+18dup
|
|
|
NM_000284.4(PDHA1):c.1009-11C>T
|
|
|
NM_000284.4(PDHA1):c.1009-12_1009-9dup
|
|
|
NM_000284.4(PDHA1):c.1009-14T>C
|
|
|
NM_000284.4(PDHA1):c.1009-16G>A
|
|
|
NM_000284.4(PDHA1):c.1009-16G>T
|
|
|
NM_000284.4(PDHA1):c.1009-16_1009-14dup
|
|
|
NM_000284.4(PDHA1):c.1009-17_1009-12del
|
|
|
NM_000284.4(PDHA1):c.1009-18C>A
|
|
|
NM_000284.4(PDHA1):c.1009-18_1009-10del
|
|
|
NM_000284.4(PDHA1):c.1009-28_1009-8del
|
rs2147188873
|
|
NM_000284.4(PDHA1):c.1009-31_1009-7del
|
rs1569193972
|
|
NM_000284.4(PDHA1):c.1009-9_1009-6dup
|
|
|
NM_000284.4(PDHA1):c.1026G>A (p.Val342=)
|
|
|
NM_000284.4(PDHA1):c.1038T>C (p.Ile346=)
|
rs2147189069
|
|
NM_000284.4(PDHA1):c.1050C>T (p.Ala350=)
|
rs2147189097
|
|
NM_000284.4(PDHA1):c.105A>G (p.Thr35=)
|
|
|
NM_000284.4(PDHA1):c.1065C>A (p.Ala355=)
|
|
|
NM_000284.4(PDHA1):c.1099C>T (p.His367Tyr)
|
rs1602232961
|
|
NM_000284.4(PDHA1):c.1146G>A (p.Gln382=)
|
rs767675495
|
|
NM_000284.4(PDHA1):c.1169_1172dup (p.Ter391=)
|
|
|
NM_000284.4(PDHA1):c.117+15A>G
|
|
|
NM_000284.4(PDHA1):c.117+7G>A
|
rs1232550777
|
|
NM_000284.4(PDHA1):c.118-13T>A
|
|
|
NM_000284.4(PDHA1):c.118-8C>A
|
rs774137227
|
|
NM_000284.4(PDHA1):c.147C>T (p.Gly49=)
|
rs1555933449
|
|
NM_000284.4(PDHA1):c.15C>T (p.Leu5=)
|
rs1203110648
|
|
NM_000284.4(PDHA1):c.162A>C (p.Thr54=)
|
rs1602223801
|
|
NM_000284.4(PDHA1):c.186C>T (p.Leu62=)
|
rs1031411207
|
|
NM_000284.4(PDHA1):c.18C>T (p.Ala6=)
|
rs1275009783
|
|
NM_000284.4(PDHA1):c.192C>T (p.Tyr64=)
|
rs2147174737
|
|
NM_000284.4(PDHA1):c.196A>C (p.Arg66=)
|
|
|
NM_000284.4(PDHA1):c.211G>A (p.Val71Ile)
|
|
|
NM_000284.4(PDHA1):c.21C>G (p.Ala7=)
|
|
|
NM_000284.4(PDHA1):c.225G>A (p.Glu75=)
|
rs1569190079
|
|
NM_000284.4(PDHA1):c.240G>A (p.Gln80=)
|
rs1602223831
|
|
NM_000284.4(PDHA1):c.270C>T (p.Phe90=)
|
rs2147174805
|
|
NM_000284.4(PDHA1):c.291+8G>A
|
rs1022434857
|
|
NM_000284.4(PDHA1):c.292-16C>T
|
|
|
NM_000284.4(PDHA1):c.292-7A>G
|
rs2147175965
|
|
NM_000284.4(PDHA1):c.292-8T>A
|
|
|
NM_000284.4(PDHA1):c.292-9C>T
|
rs371532584
|
|
NM_000284.4(PDHA1):c.294A>G (p.Glu98=)
|
|
|
NM_000284.4(PDHA1):c.300C>T (p.Cys100=)
|
|
|
NM_000284.4(PDHA1):c.306G>T (p.Val102=)
|
rs2063161583
|
|
NM_000284.4(PDHA1):c.321C>T (p.Gly107=)
|
|
|
NM_000284.4(PDHA1):c.330C>T (p.Pro110=)
|
rs2147176033
|
|
NM_000284.4(PDHA1):c.336C>T (p.Asp112=)
|
rs1294663884
|
|
NM_000284.4(PDHA1):c.345C>T (p.Ile115=)
|
rs997748901
|
|
NM_000284.4(PDHA1):c.354C>T (p.Tyr118=)
|
|
|
NM_000284.4(PDHA1):c.375C>T (p.Phe125=)
|
rs2063162028
|
|
NM_000284.4(PDHA1):c.405C>T (p.Leu135=)
|
|
|
NM_000284.4(PDHA1):c.418+8G>C
|
|
|
NM_000284.4(PDHA1):c.419-20G>A
|
|
|
NM_000284.4(PDHA1):c.419-20G>C
|
|
|
NM_000284.4(PDHA1):c.435T>C (p.Cys145=)
|
rs1268555913
|
|
NM_000284.4(PDHA1):c.456G>A (p.Ser152=)
|
rs1358837850
|
|
NM_000284.4(PDHA1):c.501G>C (p.Val167=)
|
rs2147178257
|
|
NM_000284.4(PDHA1):c.510+13G>A
|
|
|
NM_000284.4(PDHA1):c.510+18T>C
|
|
|
NM_000284.4(PDHA1):c.511-12C>T
|
|
|
NM_000284.4(PDHA1):c.511-19C>T
|
|
|
NM_000284.4(PDHA1):c.511-5G>A
|
rs2063182597
|
|
NM_000284.4(PDHA1):c.511-6_511-3dup
|
rs2147179692
|
|
NM_000284.4(PDHA1):c.516C>T (p.Pro172=)
|
|
|
NM_000284.4(PDHA1):c.534T>C (p.Ala178=)
|
|
|
NM_000284.4(PDHA1):c.54G>A (p.Lys18=)
|
rs1383593536
|
|
NM_000284.4(PDHA1):c.552T>C (p.Asn184=)
|
|
|
NM_000284.4(PDHA1):c.558A>G (p.Lys186=)
|
rs2147179763
|
|
NM_000284.4(PDHA1):c.567C>G (p.Val189=)
|
|
|
NM_000284.4(PDHA1):c.57+11C>G
|
rs1381469880
|
|
NM_000284.4(PDHA1):c.57+16C>T
|
|
|
NM_000284.4(PDHA1):c.57+17G>A
|
|
|
NM_000284.4(PDHA1):c.57+17G>C
|
|
|
NM_000284.4(PDHA1):c.57+7C>T
|
|
|
NM_000284.4(PDHA1):c.57+8C>A
|
|
|
NM_000284.4(PDHA1):c.579A>G (p.Leu193=)
|
rs2147179786
|
|
NM_000284.4(PDHA1):c.58-4T>C
|
rs2147174061
|
|
NM_000284.4(PDHA1):c.58-8C>T
|
|
|
NM_000284.4(PDHA1):c.603+8T>G
|
|
|
NM_000284.4(PDHA1):c.603+9G>A
|
|
|
NM_000284.4(PDHA1):c.604-14G>C
|
|
|
NM_000284.4(PDHA1):c.604-14G>T
|
|
|
NM_000284.4(PDHA1):c.604-15C>G
|
|
|
NM_000284.4(PDHA1):c.604-19T>G
|
|
|
NM_000284.4(PDHA1):c.604-4C>G
|
|
|
NM_000284.4(PDHA1):c.604-8A>G
|
rs2147180716
|
|
NM_000284.4(PDHA1):c.615C>T (p.Phe205=)
|
|
|
NM_000284.4(PDHA1):c.639G>A (p.Leu213=)
|
rs2147180760
|
|
NM_000284.4(PDHA1):c.645A>G (p.Lys215=)
|
|
|
NM_000284.4(PDHA1):c.672T>C (p.Asn224=)
|
rs2147180826
|
|
NM_000284.4(PDHA1):c.681T>C (p.Tyr227=)
|
|
|
NM_000284.4(PDHA1):c.693G>C (p.Thr231=)
|
rs138237215
|
|
NM_000284.4(PDHA1):c.693G>T (p.Thr231=)
|
rs138237215
|
|
NM_000284.4(PDHA1):c.696T>A (p.Ser232=)
|
|
|
NM_000284.4(PDHA1):c.708G>C (p.Ala236=)
|
rs750307419
|
|
NM_000284.4(PDHA1):c.708G>T (p.Ala236=)
|
rs750307419
|
|
NM_000284.4(PDHA1):c.717C>T (p.Ser239=)
|
|
|
NM_000284.4(PDHA1):c.729C>T (p.Tyr243=)
|
rs2147180937
|
|
NM_000284.4(PDHA1):c.732G>A (p.Lys244=)
|
rs2147180959
|
|
NM_000284.4(PDHA1):c.756G>C (p.Leu252=)
|
rs768600287
|
|
NM_000284.4(PDHA1):c.759+11C>G
|
|
|
NM_000284.4(PDHA1):c.759+26GGCCAA[5]
|
|
|
NM_000284.4(PDHA1):c.759+8C>T
|
rs1251981151
|
|
NM_000284.4(PDHA1):c.759+9del
|
rs1602227706
|
|
NM_000284.4(PDHA1):c.760-11T>C
|
|
|
NM_000284.4(PDHA1):c.760-12_760-9dup
|
|
|
NM_000284.4(PDHA1):c.760-13T>C
|
|
|
NM_000284.4(PDHA1):c.760-13T>G
|
|
|
NM_000284.4(PDHA1):c.760-18T>G
|
|
|
NM_000284.4(PDHA1):c.760-19C>A
|
|
|
NM_000284.4(PDHA1):c.760-19C>T
|
|
|
NM_000284.4(PDHA1):c.760-5A>T
|
|
|
NM_000284.4(PDHA1):c.760-8_760-5dup
|
|
|
NM_000284.4(PDHA1):c.765T>C (p.Asp255=)
|
rs1602227938
|
|
NM_000284.4(PDHA1):c.778C>T (p.Leu260=)
|
|
|
NM_000284.4(PDHA1):c.780G>C (p.Leu260=)
|
|
|
NM_000284.4(PDHA1):c.783C>T (p.Cys261=)
|
rs1569191865
|
|
NM_000284.4(PDHA1):c.807T>C (p.Ala269=)
|
rs2063192689
|
|
NM_000284.4(PDHA1):c.813C>T (p.Ala271=)
|
rs1602228001
|
|
NM_000284.4(PDHA1):c.816T>C (p.Tyr272=)
|
rs2147181545
|
|
NM_000284.4(PDHA1):c.828G>A (p.Gly276=)
|
rs2147181559
|
|
NM_000284.4(PDHA1):c.831+16C>T
|
|
|
NM_000284.4(PDHA1):c.831+18T>G
|
|
|
NM_000284.4(PDHA1):c.831+7C>T
|
|
|
NM_000284.4(PDHA1):c.831+8T>G
|
rs2147181572
|
|
NM_000284.4(PDHA1):c.832-14C>G
|
|
|
NM_000284.4(PDHA1):c.832-7_832-4dup
|
|
|
NM_000284.4(PDHA1):c.832-9_832-8del
|
|
|
NM_000284.4(PDHA1):c.837C>T (p.Pro279=)
|
|
|
NM_000284.4(PDHA1):c.844A>T (p.Met282Leu)
|
|
|
NM_000284.4(PDHA1):c.852G>T (p.Leu284=)
|
|
|
NM_000284.4(PDHA1):c.861C>T (p.Tyr287=)
|
rs1057521179
|
|
NM_000284.4(PDHA1):c.867C>T (p.Tyr289=)
|
rs1418512491
|
|
NM_000284.4(PDHA1):c.891T>C (p.Pro297=)
|
rs2147184530
|
|
NM_000284.4(PDHA1):c.899+15A>C
|
|
|
NM_000284.4(PDHA1):c.899+15A>G
|
|
|
NM_000284.4(PDHA1):c.899+9A>C
|
rs751604605
|
|
NM_000284.4(PDHA1):c.899+9A>G
|
rs751604605
|
|
NM_000284.4(PDHA1):c.900-10C>T
|
rs370163447
|
|
NM_000284.4(PDHA1):c.900-10del
|
|
|
NM_000284.4(PDHA1):c.900-16T>C
|
|
|
NM_000284.4(PDHA1):c.900-18_900-15dup
|
|
|
NM_000284.4(PDHA1):c.900-4A>C
|
rs1262041210
|
|
NM_000284.4(PDHA1):c.900-4A>G
|
|
|
NM_000284.4(PDHA1):c.960C>T (p.Leu320=)
|
|
|
NM_000284.4(PDHA1):c.966C>T (p.Asp322=)
|
|
|
NM_000284.4(PDHA1):c.978C>T (p.Asn326=)
|
rs779045292
|
|
NM_000284.4(PDHA1):c.990C>T (p.Ala330=)
|
|
|
NM_000289.6(PFKM):c.1002T>C (p.Cys334=)
|
|
|
NM_000289.6(PFKM):c.1017T>C (p.Ser339=)
|
rs2135957213
|
|
NM_000289.6(PFKM):c.1020T>C (p.Gly340=)
|
rs2135957243
|
|
NM_000289.6(PFKM):c.1023C>T (p.Asn341=)
|
rs2135957291
|
|
NM_000289.6(PFKM):c.1029T>A (p.Ala343=)
|
rs2135957401
|
|
NM_000289.6(PFKM):c.1029T>C (p.Ala343=)
|
|
|
NM_000289.6(PFKM):c.1032G>A (p.Val344=)
|
rs1329869497
|
|
NM_000289.6(PFKM):c.1035C>T (p.Arg345=)
|
|
|
NM_000289.6(PFKM):c.1036C>T (p.Leu346=)
|
|
|
NM_000289.6(PFKM):c.1062+14C>T
|
|
|
NM_000289.6(PFKM):c.1062+20C>T
|
|
|
NM_000289.6(PFKM):c.1062+8C>T
|
|
|
NM_000289.6(PFKM):c.1062+9T>C
|
|
|
NM_000289.6(PFKM):c.1062G>T (p.Val354=)
|
|
|
NM_000289.6(PFKM):c.1063-10C>A
|
|
|
NM_000289.6(PFKM):c.1063-10C>T
|
|
|
NM_000289.6(PFKM):c.1063-18G>C
|
|
|
NM_000289.6(PFKM):c.1063-20T>A
|
|
|
NM_000289.6(PFKM):c.1063-6C>A
|
rs371033104
|
|
NM_000289.6(PFKM):c.1063-6C>G
|
rs371033104
|
|
NM_000289.6(PFKM):c.1063-6C>T
|
rs371033104
|
|
NM_000289.6(PFKM):c.1063-7C>A
|
|
|
NM_000289.6(PFKM):c.1063-7C>T
|
rs776228408
|
|
NM_000289.6(PFKM):c.1063-8C>T
|
|
|
NM_000289.6(PFKM):c.1077C>G (p.Thr359=)
|
rs2135975682
|
|
NM_000289.6(PFKM):c.1077C>T (p.Thr359=)
|
|
|
NM_000289.6(PFKM):c.1080G>A (p.Lys360=)
|
|
|
NM_000289.6(PFKM):c.108T>C (p.Ala36=)
|
rs1949346132
|
|
NM_000289.6(PFKM):c.1113G>A (p.Leu371=)
|
rs2135976209
|
|
NM_000289.6(PFKM):c.1122A>G (p.Arg374=)
|
|
|
NM_000289.6(PFKM):c.1127+10T>A
|
|
|
NM_000289.6(PFKM):c.1127+14G>A
|
|
|
NM_000289.6(PFKM):c.1127+19G>A
|
|
|
NM_000289.6(PFKM):c.1127+19G>T
|
|
|
NM_000289.6(PFKM):c.1127+7A>G
|
rs2135976553
|
|
NM_000289.6(PFKM):c.1127+8G>A
|
rs2135976581
|
|
NM_000289.6(PFKM):c.1127+9A>C
|
rs2135976634
|
|
NM_000289.6(PFKM):c.1128-10C>A
|
rs2135982206
|
|
NM_000289.6(PFKM):c.1128-10C>T
|
rs2135982206
|
|
NM_000289.6(PFKM):c.1128-15T>C
|
|
|
NM_000289.6(PFKM):c.1128-16T>A
|
|
|
NM_000289.6(PFKM):c.1128-17A>G
|
|
|
NM_000289.6(PFKM):c.1128-18T>C
|
|
|
NM_000289.6(PFKM):c.1128-19_1128-16del
|
|
|
NM_000289.6(PFKM):c.114T>C (p.Val38=)
|
|
|
NM_000289.6(PFKM):c.1152G>A (p.Val384=)
|
|
|
NM_000289.6(PFKM):c.1161T>C (p.Leu387=)
|
rs1950427025
|
|
NM_000289.6(PFKM):c.1164A>G (p.Leu388=)
|
rs2135982704
|
|
NM_000289.6(PFKM):c.1182G>A (p.Pro394=)
|
rs372189049
|
|
NM_000289.6(PFKM):c.1191+11G>T
|
|
|
NM_000289.6(PFKM):c.1191+13T>G
|
|
|
NM_000289.6(PFKM):c.1192-10T>C
|
|
|
NM_000289.6(PFKM):c.1192-11C>T
|
|
|
NM_000289.6(PFKM):c.1192-12C>G
|
|
|
NM_000289.6(PFKM):c.1192-19C>T
|
|
|
NM_000289.6(PFKM):c.1192-3_1192-2del
|
rs780969059
|
|
NM_000289.6(PFKM):c.1192-5T>C
|
rs778432092
|
|
NM_000289.6(PFKM):c.1192-6G>C
|
|
|
NM_000289.6(PFKM):c.1192-9C>T
|
|
|
NM_000289.6(PFKM):c.1209G>A (p.Val403=)
|
|
|
NM_000289.6(PFKM):c.1221C>T (p.Asn407=)
|
rs764231757
|
|
NM_000289.6(PFKM):c.1224G>C (p.Val408=)
|
rs762040245
|
|
NM_000289.6(PFKM):c.1224G>T (p.Val408=)
|
|
|
NM_000289.6(PFKM):c.1248T>C (p.Asn416=)
|
|
|
NM_000289.6(PFKM):c.1254T>G (p.Ala418=)
|
rs1592789513
|
|
NM_000289.6(PFKM):c.1266T>C (p.Thr422=)
|
|
|
NM_000289.6(PFKM):c.1281T>C (p.Leu427=)
|
|
|
NM_000289.6(PFKM):c.1293C>T (p.Asn431=)
|
rs1325830143
|
|
NM_000289.6(PFKM):c.1302C>G (p.Leu434=)
|
|
|
NM_000289.6(PFKM):c.1302C>T (p.Leu434=)
|
rs1217619963
|
|
NM_000289.6(PFKM):c.1314T>C (p.Asp438=)
|
|
|
NM_000289.6(PFKM):c.1338_1339delinsAA (p.Gln447Lys)
|
rs1555206566
|
|
NM_000289.6(PFKM):c.1342-13C>T
|
|
|
NM_000289.6(PFKM):c.1342-7C>T
|
rs1592793920
|
|
NM_000289.6(PFKM):c.1342-8C>T
|
|
|
NM_000289.6(PFKM):c.1342-9del
|
rs2136000813
|
|
NM_000289.6(PFKM):c.1347G>A (p.Glu449=)
|
rs1383781379
|
|
NM_000289.6(PFKM):c.1383C>T (p.Gly461=)
|
|
|
NM_000289.6(PFKM):c.1392C>T (p.Gly464=)
|
|
|
NM_000289.6(PFKM):c.1407T>C (p.Thr469=)
|
|
|
NM_000289.6(PFKM):c.1412+11C>G
|
|
|
NM_000289.6(PFKM):c.1412+14C>T
|
|
|
NM_000289.6(PFKM):c.1412+16G>T
|
|
|
NM_000289.6(PFKM):c.1412+17A>C
|
|
|
NM_000289.6(PFKM):c.1412+19G>T
|
|
|
NM_000289.6(PFKM):c.1412+20C>T
|
|
|
NM_000289.6(PFKM):c.1412+9C>T
|
rs2136001614
|
|
NM_000289.6(PFKM):c.1413-16A>G
|
|
|
NM_000289.6(PFKM):c.1413-5A>T
|
rs2136006212
|
|
NM_000289.6(PFKM):c.1416T>C (p.Thr472=)
|
rs1950594557
|
|
NM_000289.6(PFKM):c.1417C>T (p.Leu473=)
|
rs1950594770
|
|
NM_000289.6(PFKM):c.1443C>T (p.Ile481=)
|
rs2136006513
|
|
NM_000289.6(PFKM):c.1452T>C (p.Asn484=)
|
|
|
NM_000289.6(PFKM):c.147C>T (p.Phe49=)
|
|
|
NM_000289.6(PFKM):c.1491G>C (p.Gly497=)
|
|
|
NM_000289.6(PFKM):c.1500+14A>G
|
|
|
NM_000289.6(PFKM):c.1500+15C>T
|
|
|
NM_000289.6(PFKM):c.1500+9C>T
|
rs1315594001
|
|
NM_000289.6(PFKM):c.1501-12TCT[2]
|
rs1230657170
|
|
NM_000289.6(PFKM):c.1501-5C>A
|
|
|
NM_000289.6(PFKM):c.1501-8C>T
|
|
|
NM_000289.6(PFKM):c.1503T>A (p.Ala501=)
|
rs1421392490
|
|
NM_000289.6(PFKM):c.1503T>G (p.Ala501=)
|
rs1421392490
|
|
NM_000289.6(PFKM):c.1506C>T (p.Tyr502=)
|
rs2136008624
|
|
NM_000289.6(PFKM):c.150T>C (p.Phe50=)
|
|
|
NM_000289.6(PFKM):c.1521A>G (p.Glu507=)
|
rs1592800238
|
|
NM_000289.6(PFKM):c.1522C>T (p.Leu508=)
|
|
|
NM_000289.6(PFKM):c.1530G>A (p.Glu510=)
|
|
|
NM_000289.6(PFKM):c.1557C>T (p.Cys519=)
|
|
|
NM_000289.6(PFKM):c.1563A>G (p.Pro521=)
|
rs2136009337
|
|
NM_000289.6(PFKM):c.156T>C (p.His52=)
|
|
|
NM_000289.6(PFKM):c.1581T>C (p.Ala527=)
|
|
|
NM_000289.6(PFKM):c.1587C>T (p.Val529=)
|
rs1406744971
|
|
NM_000289.6(PFKM):c.159+11T>C
|
|
|
NM_000289.6(PFKM):c.159+14T>C
|
|
|
NM_000289.6(PFKM):c.159+16T>C
|
|
|
NM_000289.6(PFKM):c.1596T>C (p.Asn532=)
|
|
|
NM_000289.6(PFKM):c.1599C>A (p.Val533=)
|
rs1308260209
|
|
NM_000289.6(PFKM):c.15G>A (p.Glu5=)
|
|
|
NM_000289.6(PFKM):c.160-11G>A
|
|
|
NM_000289.6(PFKM):c.160-13A>C
|
|
|
NM_000289.6(PFKM):c.160-13A>T
|
|
|
NM_000289.6(PFKM):c.160-14A>G
|
|
|
NM_000289.6(PFKM):c.160-16A>G
|
|
|
NM_000289.6(PFKM):c.160-18G>A
|
|
|
NM_000289.6(PFKM):c.160-4A>G
|
|
|
NM_000289.6(PFKM):c.1626T>C (p.Ala542=)
|
rs2136010141
|
|
NM_000289.6(PFKM):c.1632A>G (p.Thr544=)
|
rs2136010299
|
|
NM_000289.6(PFKM):c.1644T>C (p.Thr548=)
|
|
|
NM_000289.6(PFKM):c.1647C>A (p.Ile549=)
|
rs780042405
|
|
NM_000289.6(PFKM):c.1653+12T>A
|
|
|
NM_000289.6(PFKM):c.1653+15C>T
|
|
|
NM_000289.6(PFKM):c.1653+19T>C
|
|
|
NM_000289.6(PFKM):c.1653+7G>A
|
|
|
NM_000289.6(PFKM):c.1653+8C>G
|
rs369425921
|
|
NM_000289.6(PFKM):c.1653+9C>A
|
rs1442520537
|
|
NM_000289.6(PFKM):c.1654-20A>G
|
|
|
NM_000289.6(PFKM):c.1654-5T>C
|
|
|
NM_000289.6(PFKM):c.1654-7C>T
|
|
|
NM_000289.6(PFKM):c.1659T>C (p.Cys553=)
|
rs2136019328
|
|
NM_000289.6(PFKM):c.1695T>C (p.Arg565=)
|
|
|
NM_000289.6(PFKM):c.1701G>A (p.Val567=)
|
rs2136019645
|
|
NM_000289.6(PFKM):c.1707C>A (p.Ile569=)
|
|
|
NM_000289.6(PFKM):c.1713G>A (p.Glu571=)
|
|
|
NM_000289.6(PFKM):c.171C>A (p.Gly57=)
|
rs1949456909
|
|
NM_000289.6(PFKM):c.171C>T (p.Gly57=)
|
|
|
NM_000289.6(PFKM):c.1725C>T (p.Gly575=)
|
|
|
NM_000289.6(PFKM):c.1728C>T (p.Tyr576=)
|
|
|
NM_000289.6(PFKM):c.1746C>T (p.Thr582=)
|
rs2136020208
|
|
NM_000289.6(PFKM):c.1761A>C (p.Ala587=)
|
|
|
NM_000289.6(PFKM):c.1767G>C (p.Gly589=)
|
|
|
NM_000289.6(PFKM):c.1779C>G (p.Ala593=)
|
rs1592808888
|
|
NM_000289.6(PFKM):c.1791G>A (p.Glu597=)
|
|
|
NM_000289.6(PFKM):c.1797C>T (p.Pro599=)
|
|
|
NM_000289.6(PFKM):c.1803C>T (p.Thr601=)
|
|
|
NM_000289.6(PFKM):c.1807C>A (p.Arg603=)
|
|
|
NM_000289.6(PFKM):c.1812C>T (p.Asp604=)
|
|
|
NM_000289.6(PFKM):c.1818+13C>A
|
|
|
NM_000289.6(PFKM):c.1818+15A>G
|
|
|
NM_000289.6(PFKM):c.1818+17del
|
|
|
NM_000289.6(PFKM):c.1818+19C>A
|
|
|
NM_000289.6(PFKM):c.1819-9C>A
|
rs755585302
|
|
NM_000289.6(PFKM):c.1819-9C>G
|
|
|
NM_000289.6(PFKM):c.1834C>T (p.Leu612=)
|
rs2136032182
|
|
NM_000289.6(PFKM):c.1842A>G (p.Gln614=)
|
|
|
NM_000289.6(PFKM):c.1866G>A (p.Arg622=)
|
|
|
NM_000289.6(PFKM):c.186A>C (p.Gly62=)
|
rs750471184
|
|
NM_000289.6(PFKM):c.1875G>A (p.Val625=)
|
rs1321101853
|
|
NM_000289.6(PFKM):c.1880+11C>G
|
|
|
NM_000289.6(PFKM):c.1880+12A>G
|
|
|
NM_000289.6(PFKM):c.1880+13T>C
|
|
|
NM_000289.6(PFKM):c.1880+19G>C
|
|
|
NM_000289.6(PFKM):c.1880+19G>T
|
|
|
NM_000289.6(PFKM):c.1881-8C>T
|
rs779486479
|
|
NM_000289.6(PFKM):c.1884T>C (p.Asn628=)
|
rs2136035977
|
|
NM_000289.6(PFKM):c.1896T>C (p.Asn632=)
|
|
|
NM_000289.6(PFKM):c.18C>T (p.His6=)
|
|
|
NM_000289.6(PFKM):c.1902C>T (p.Asn634=)
|
|
|
NM_000289.6(PFKM):c.1905T>C (p.Tyr635=)
|
|
|
NM_000289.6(PFKM):c.1908C>G (p.Thr636=)
|
|
|
NM_000289.6(PFKM):c.192C>T (p.His64=)
|
rs2135857209
|
|
NM_000289.6(PFKM):c.1932C>T (p.Tyr644=)
|
rs1950814614
|
|
NM_000289.6(PFKM):c.1938G>A (p.Glu646=)
|
|
|
NM_000289.6(PFKM):c.1941G>A (p.Glu647=)
|
rs2136036321
|
|
NM_000289.6(PFKM):c.1947G>A (p.Lys649=)
|
|
|
NM_000289.6(PFKM):c.1953C>A (p.Ile651=)
|
|
|
NM_000289.6(PFKM):c.1962C>T (p.Ser654=)
|
|
|
NM_000289.6(PFKM):c.1989G>A (p.Gln663=)
|
|
|
NM_000289.6(PFKM):c.1992+13C>G
|
|
|
NM_000289.6(PFKM):c.1992+13C>T
|
|
|
NM_000289.6(PFKM):c.1992+14C>T
|
|
|
NM_000289.6(PFKM):c.1992+15G>A
|
|
|
NM_000289.6(PFKM):c.1992+17A>G
|
|
|
NM_000289.6(PFKM):c.1992+20C>A
|
|
|
NM_000289.6(PFKM):c.1992+20C>T
|
|
|
NM_000289.6(PFKM):c.1993-16A>G
|
|
|
NM_000289.6(PFKM):c.1993-16_1993-15del
|
|
|
NM_000289.6(PFKM):c.1995T>C (p.Gly665=)
|
rs770758369
|
|
NM_000289.6(PFKM):c.2001C>T (p.Ser667=)
|
|
|
NM_000289.6(PFKM):c.2007C>A (p.Thr669=)
|
|
|
NM_000289.6(PFKM):c.2019G>A (p.Arg673=)
|
rs1950913988
|
|
NM_000289.6(PFKM):c.201A>G (p.Glu67=)
|
|
|
NM_000289.6(PFKM):c.2043C>A (p.Ala681=)
|
|
|
NM_000289.6(PFKM):c.2043C>T (p.Ala681=)
|
|
|
NM_000289.6(PFKM):c.2046G>A (p.Lys682=)
|
|
|
NM_000289.6(PFKM):c.204C>T (p.Ala68=)
|
rs2135857231
|
|
NM_000289.6(PFKM):c.2064T>G (p.Ser688=)
|
|
|
NM_000289.6(PFKM):c.2070A>G (p.Lys690=)
|
|
|
NM_000289.6(PFKM):c.2073C>A (p.Ile691=)
|
|
|
NM_000289.6(PFKM):c.2092+12G>A
|
|
|
NM_000289.6(PFKM):c.2092+18G>A
|
|
|
NM_000289.6(PFKM):c.2092+20G>A
|
|
|
NM_000289.6(PFKM):c.2092+7G>A
|
rs2136049384
|
|
NM_000289.6(PFKM):c.2092+8G>A
|
rs2136049447
|
|
NM_000289.6(PFKM):c.2092+9G>A
|
rs371778846
|
|
NM_000289.6(PFKM):c.2093-5T>C
|
rs2136050932
|
|
NM_000289.6(PFKM):c.2093-6T>C
|
|
|
NM_000289.6(PFKM):c.2093-7A>C
|
|
|
NM_000289.6(PFKM):c.2093-8C>T
|
|
|
NM_000289.6(PFKM):c.2106C>T (p.Ala702=)
|
|
|
NM_000289.6(PFKM):c.2124C>G (p.Gly708=)
|
|
|
NM_000289.6(PFKM):c.2127T>C (p.Cys709=)
|
rs2136051296
|
|
NM_000289.6(PFKM):c.2133G>A (p.Leu711=)
|
|
|
NM_000289.6(PFKM):c.2166A>G (p.Pro722=)
|
rs2136051603
|
|
NM_000289.6(PFKM):c.2169G>A (p.Val723=)
|
|
|
NM_000289.6(PFKM):c.2175G>A (p.Glu725=)
|
|
|
NM_000289.6(PFKM):c.2184C>T (p.Asp728=)
|
|
|
NM_000289.6(PFKM):c.2190A>G (p.Thr730=)
|
rs926218950
|
|
NM_000289.6(PFKM):c.2190A>T (p.Thr730=)
|
|
|
NM_000289.6(PFKM):c.2198+8C>T
|
|
|
NM_000289.6(PFKM):c.2198+9A>C
|
|
|
NM_000289.6(PFKM):c.2198+9A>G
|
|
|
NM_000289.6(PFKM):c.2199-15C>T
|
|
|
NM_000289.6(PFKM):c.2199-16C>T
|
|
|
NM_000289.6(PFKM):c.2199-5T>C
|
|
|
NM_000289.6(PFKM):c.2199-8C>T
|
|
|
NM_000289.6(PFKM):c.2199-9C>T
|
rs2136054913
|
|
NM_000289.6(PFKM):c.21T>C (p.His7=)
|
rs2137860144
|
|
NM_000289.6(PFKM):c.2211C>G (p.Pro737=)
|
rs1165739164
|
|
NM_000289.6(PFKM):c.2217A>G (p.Glu739=)
|
rs1950977568
|
|
NM_000289.6(PFKM):c.2220G>A (p.Gln740=)
|
|
|
NM_000289.6(PFKM):c.222G>T (p.Ser74=)
|
rs754074132
|
|
NM_000289.6(PFKM):c.2236A>C (p.Arg746=)
|
rs1592832534
|
|
NM_000289.6(PFKM):c.2241C>A (p.Pro747=)
|
|
|
NM_000289.6(PFKM):c.2241C>T (p.Pro747=)
|
rs1350195023
|
|
NM_000289.6(PFKM):c.2244C>A (p.Ile748=)
|
|
|
NM_000289.6(PFKM):c.2247C>T (p.Leu749=)
|
|
|
NM_000289.6(PFKM):c.2259C>T (p.Ala753=)
|
|
|
NM_000289.6(PFKM):c.2262G>A (p.Lys754=)
|
|
|
NM_000289.6(PFKM):c.2268G>A (p.Glu756=)
|
rs2136055950
|
|
NM_000289.6(PFKM):c.2271T>C (p.Ile757=)
|
|
|
NM_000289.6(PFKM):c.2277G>A (p.Leu759=)
|
rs1430120826
|
|
NM_000289.6(PFKM):c.2283T>C (p.Thr761=)
|
|
|
NM_000289.6(PFKM):c.2286A>G (p.Ser762=)
|
rs1592832978
|
|
NM_000289.6(PFKM):c.2298C>T (p.His766=)
|
|
|
NM_000289.6(PFKM):c.2307C>T (p.His769=)
|
|
|
NM_000289.6(PFKM):c.2313C>T (p.Thr771=)
|
|
|
NM_000289.6(PFKM):c.2322G>A (p.Arg774=)
|
rs2136056634
|
|
NM_000289.6(PFKM):c.2334T>A (p.Ala778=)
|
rs8716
|
|
NM_000289.6(PFKM):c.2337C>G (p.Ala779=)
|
rs748647298
|
|
NM_000289.6(PFKM):c.237+17T>C
|
|
|
NM_000289.6(PFKM):c.237+8C>T
|
|
|
NM_000289.6(PFKM):c.238-12C>T
|
|
|
NM_000289.6(PFKM):c.238-13A>G
|
|
|
NM_000289.6(PFKM):c.238-20G>A
|
|
|
NM_000289.6(PFKM):c.262C>A (p.Arg88=)
|
|
|
NM_000289.6(PFKM):c.264G>A (p.Arg88=)
|
|
|
NM_000289.6(PFKM):c.277C>A (p.Arg93=)
|
|
|
NM_000289.6(PFKM):c.291A>C (p.Gly97=)
|
rs2135884772
|
|
NM_000289.6(PFKM):c.297C>T (p.Leu99=)
|
rs1181881387
|
|
NM_000289.6(PFKM):c.309C>T (p.Tyr103=)
|
rs2135885049
|
|
NM_000289.6(PFKM):c.321G>A (p.Lys107=)
|
|
|
NM_000289.6(PFKM):c.34C>T (p.Leu12=)
|
|
|
NM_000289.6(PFKM):c.354T>A (p.Gly118=)
|
|
|
NM_000289.6(PFKM):c.354T>C (p.Gly118=)
|
rs1187514309
|
|
NM_000289.6(PFKM):c.363C>T (p.Ser121=)
|
|
|
NM_000289.6(PFKM):c.366C>T (p.Leu122=)
|
rs2135886000
|
|
NM_000289.6(PFKM):c.369T>G (p.Thr123=)
|
rs1592727757
|
|
NM_000289.6(PFKM):c.372G>A (p.Gly124=)
|
|
|
NM_000289.6(PFKM):c.417C>A (p.Leu139=)
|
|
|
NM_000289.6(PFKM):c.427+17A>T
|
|
|
NM_000289.6(PFKM):c.427+20A>G
|
|
|
NM_000289.6(PFKM):c.427+9G>A
|
|
|
NM_000289.6(PFKM):c.428-10T>C
|
rs2135891586
|
|
NM_000289.6(PFKM):c.428-20G>C
|
|
|
NM_000289.6(PFKM):c.428-5G>T
|
|
|
NM_000289.6(PFKM):c.428-6T>C
|
rs2135891715
|
|
NM_000289.6(PFKM):c.428-7T>C
|
|
|
NM_000289.6(PFKM):c.428-9C>T
|
|
|
NM_000289.6(PFKM):c.438A>G (p.Thr146=)
|
|
|
NM_000289.6(PFKM):c.438A>T (p.Thr146=)
|
rs2135892064
|
|
NM_000289.6(PFKM):c.453G>C (p.Thr151=)
|
rs144370737
|
|
NM_000289.6(PFKM):c.489G>T (p.Gly163=)
|
|
|
NM_000289.6(PFKM):c.492A>C (p.Ser164=)
|
|
|
NM_000289.6(PFKM):c.507C>T (p.Phe169=)
|
rs777395109
|
|
NM_000289.6(PFKM):c.531C>A (p.Gly177=)
|
|
|
NM_000289.6(PFKM):c.534T>C (p.Thr178=)
|
rs146157053
|
|
NM_000289.6(PFKM):c.543C>T (p.Ala181=)
|
rs1370905542
|
|
NM_000289.6(PFKM):c.549T>C (p.His183=)
|
|
|
NM_000289.6(PFKM):c.552G>T (p.Arg184=)
|
rs976955357
|
|
NM_000289.6(PFKM):c.564T>C (p.Ile188=)
|
rs1949732821
|
|
NM_000289.6(PFKM):c.573C>T (p.Ala191=)
|
rs2135894032
|
|
NM_000289.6(PFKM):c.582C>T (p.Thr194=)
|
|
|
NM_000289.6(PFKM):c.593+10C>G
|
rs1949737425
|
|
NM_000289.6(PFKM):c.593+12T>A
|
|
|
NM_000289.6(PFKM):c.593+15G>A
|
|
|
NM_000289.6(PFKM):c.593+18G>A
|
|
|
NM_000289.6(PFKM):c.593+18G>C
|
|
|
NM_000289.6(PFKM):c.593+8G>A
|
rs2135894357
|
|
NM_000289.6(PFKM):c.594-11A>G
|
|
|
NM_000289.6(PFKM):c.594-12T>C
|
|
|
NM_000289.6(PFKM):c.594-12dup
|
|
|
NM_000289.6(PFKM):c.594-13C>T
|
|
|
NM_000289.6(PFKM):c.594-14T>A
|
|
|
NM_000289.6(PFKM):c.594-16T>C
|
|
|
NM_000289.6(PFKM):c.594-17A>C
|
|
|
NM_000289.6(PFKM):c.594-17_594-16del
|
|
|
NM_000289.6(PFKM):c.594-18T>C
|
|
|
NM_000289.6(PFKM):c.594-19A>G
|
|
|
NM_000289.6(PFKM):c.594-20C>T
|
|
|
NM_000289.6(PFKM):c.594-4G>A
|
rs774807994
|
|
NM_000289.6(PFKM):c.594-5T>C
|
|
|
NM_000289.6(PFKM):c.594-7C>T
|
rs1458751002
|
|
NM_000289.6(PFKM):c.601A>C (p.Arg201=)
|
|
|
NM_000289.6(PFKM):c.606A>G (p.Thr202=)
|
rs2135907037
|
|
NM_000289.6(PFKM):c.627C>A (p.Gly209=)
|
rs930544072
|
|
NM_000289.6(PFKM):c.627C>G (p.Gly209=)
|
rs930544072
|
|
NM_000289.6(PFKM):c.638+12A>C
|
|
|
NM_000289.6(PFKM):c.638+18A>C
|
|
|
NM_000289.6(PFKM):c.638+18A>G
|
|
|
NM_000289.6(PFKM):c.638+7T>A
|
|
|
NM_000289.6(PFKM):c.639-10C>G
|
rs2135915213
|
|
NM_000289.6(PFKM):c.639-17T>C
|
|
|
NM_000289.6(PFKM):c.639-7A>T
|
|
|
NM_000289.6(PFKM):c.639-8C>T
|
|
|
NM_000289.6(PFKM):c.657C>T (p.Thr219=)
|
|
|
NM_000289.6(PFKM):c.660T>C (p.Ser220=)
|
|
|
NM_000289.6(PFKM):c.666C>T (p.Ser222=)
|
rs1249664880
|
|
NM_000289.6(PFKM):c.687T>C (p.Phe229=)
|
rs2135915804
|
|
NM_000289.6(PFKM):c.702A>C (p.Pro234=)
|
rs138022863
|
|
NM_000289.6(PFKM):c.702A>G (p.Pro234=)
|
rs138022863
|
|
NM_000289.6(PFKM):c.708T>C (p.Asp236=)
|
|
|
NM_000289.6(PFKM):c.720G>A (p.Glu240=)
|
|
|
NM_000289.6(PFKM):c.732T>C (p.Cys244=)
|
rs1406800853
|
|
NM_000289.6(PFKM):c.735C>T (p.Arg245=)
|
rs2135916916
|
|
NM_000289.6(PFKM):c.747+10C>G
|
|
|
NM_000289.6(PFKM):c.747+19_747+24del
|
|
|
NM_000289.6(PFKM):c.747+7_747+12del
|
|
|
NM_000289.6(PFKM):c.747+8C>T
|
|
|
NM_000289.6(PFKM):c.747+9A>G
|
rs2135917272
|
|
NM_000289.6(PFKM):c.748-18C>T
|
|
|
NM_000289.6(PFKM):c.748-19A>G
|
|
|
NM_000289.6(PFKM):c.748-4C>T
|
rs2135919001
|
|
NM_000289.6(PFKM):c.748-6A>G
|
rs2135918960
|
|
NM_000289.6(PFKM):c.765T>G (p.Ser255=)
|
|
|
NM_000289.6(PFKM):c.768T>C (p.Arg256=)
|
|
|
NM_000289.6(PFKM):c.774C>T (p.Asn258=)
|
rs894740706
|
|
NM_000289.6(PFKM):c.777C>T (p.Ile259=)
|
rs2135919616
|
|
NM_000289.6(PFKM):c.783T>A (p.Ile261=)
|
|
|
NM_000289.6(PFKM):c.783T>C (p.Ile261=)
|
|
|
NM_000289.6(PFKM):c.786G>A (p.Val262=)
|
|
|
NM_000289.6(PFKM):c.789T>C (p.Ala263=)
|
|
|
NM_000289.6(PFKM):c.819A>G (p.Pro273=)
|
|
|
NM_000289.6(PFKM):c.843+16G>A
|
|
|
NM_000289.6(PFKM):c.843+20G>A
|
|
|
NM_000289.6(PFKM):c.844-11G>T
|
|
|
NM_000289.6(PFKM):c.844-6C>T
|
rs769686642
|
|
NM_000289.6(PFKM):c.85+11G>C
|
|
|
NM_000289.6(PFKM):c.85+13G>A
|
|
|
NM_000289.6(PFKM):c.85+16del
|
|
|
NM_000289.6(PFKM):c.85+8G>T
|
rs772038099
|
|
NM_000289.6(PFKM):c.85+9G>A
|
rs777960882
|
|
NM_000289.6(PFKM):c.85+9del
|
|
|
NM_000289.6(PFKM):c.852T>G (p.Val284=)
|
|
|
NM_000289.6(PFKM):c.859C>T (p.Leu287=)
|
rs925038213
|
|
NM_000289.6(PFKM):c.86-14G>T
|
|
|
NM_000289.6(PFKM):c.86-5T>C
|
|
|
NM_000289.6(PFKM):c.86-8C>T
|
|
|
NM_000289.6(PFKM):c.867T>C (p.Tyr289=)
|
|
|
NM_000289.6(PFKM):c.870C>T (p.Asp290=)
|
rs2135924488
|
|
NM_000289.6(PFKM):c.873C>A (p.Thr291=)
|
|
|
NM_000289.6(PFKM):c.879T>C (p.Val293=)
|
|
|
NM_000289.6(PFKM):c.886T>C (p.Leu296=)
|
|
|
NM_000289.6(PFKM):c.891G>T (p.Gly297=)
|
rs2135924830
|
|
NM_000289.6(PFKM):c.903G>A (p.Arg301=)
|
rs2135924903
|
|
NM_000289.6(PFKM):c.921C>T (p.Ala307=)
|
rs2135925089
|
|
NM_000289.6(PFKM):c.936+10T>C
|
rs2135925401
|
|
NM_000289.6(PFKM):c.936+10_936+28del
|
|
|
NM_000289.6(PFKM):c.936+12G>C
|
|
|
NM_000289.6(PFKM):c.936+20G>A
|
|
|
NM_000289.6(PFKM):c.936+9C>T
|
|
|
NM_000289.6(PFKM):c.937-13T>C
|
|
|
NM_000289.6(PFKM):c.937-15T>C
|
|
|
NM_000289.6(PFKM):c.937-18T>A
|
|
|
NM_000289.6(PFKM):c.937-19G>A
|
|
|
NM_000289.6(PFKM):c.937-4G>A
|
rs1175020971
|
|
NM_000289.6(PFKM):c.937-6C>T
|
rs1245827075
|
|
NM_000289.6(PFKM):c.937-8T>A
|
|
|
NM_000289.6(PFKM):c.937-8T>C
|
rs2135956395
|
|
NM_000289.6(PFKM):c.93T>C (p.Asn31=)
|
rs2135841860
|
|
NM_000289.6(PFKM):c.942C>T (p.Ser314=)
|
|
|
NM_000289.6(PFKM):c.943A>C (p.Arg315=)
|
|
|
NM_000289.6(PFKM):c.945G>A (p.Arg315=)
|
|
|
NM_000289.6(PFKM):c.954G>A (p.Val318=)
|
|
|
NM_000289.6(PFKM):c.957A>G (p.Glu319=)
|
|
|
NM_000289.6(PFKM):c.972T>A (p.Leu324=)
|
|
|
NM_000289.6(PFKM):c.987A>G (p.Pro329=)
|
rs932393961
|
|
NM_000289.6(PFKM):c.996A>G (p.Pro332=)
|
|
|
NM_000289.6(PFKM):c.9T>C (p.His3=)
|
|
|
NM_000290.4(PGAM2):c.15C>T (p.Arg5=)
|
|
|
NM_000290.4(PGAM2):c.183G>A (p.Lys61=)
|
|
|
NM_000290.4(PGAM2):c.201C>T (p.Leu67=)
|
|
|
NM_000290.4(PGAM2):c.222G>A (p.Thr74=)
|
|
|
NM_000290.4(PGAM2):c.300G>A (p.Lys100=)
|
|
|
NM_000290.4(PGAM2):c.309G>A (p.Thr103=)
|
|
|
NM_000290.4(PGAM2):c.321C>T (p.His107=)
|
|
|
NM_000290.4(PGAM2):c.330G>A (p.Glu110=)
|
|
|
NM_000290.4(PGAM2):c.33C>T (p.His11=)
|
|
|
NM_000290.4(PGAM2):c.342C>T (p.Ile114=)
|
|
|
NM_000290.4(PGAM2):c.369G>A (p.Pro123=)
|
|
|
NM_000290.4(PGAM2):c.372C>A (p.Pro124=)
|
|
|
NM_000290.4(PGAM2):c.393C>T (p.Pro131=)
|
|
|
NM_000290.4(PGAM2):c.441C>T (p.Pro147=)
|
|
|
NM_000290.4(PGAM2):c.455C>T (p.Thr152Ile)
|
rs199869174
|
|
NM_000290.4(PGAM2):c.489C>T (p.Ala163=)
|
rs1201379677
|
|
NM_000290.4(PGAM2):c.504C>T (p.Asn168=)
|
|
|
NM_000290.4(PGAM2):c.511A>G (p.Ile171Val)
|
rs372452057
|
|
NM_000290.4(PGAM2):c.558C>T (p.His186=)
|
|
|
NM_000290.4(PGAM2):c.63T>C (p.Arg21=)
|
|
|
NM_000290.4(PGAM2):c.684G>A (p.Lys228=)
|
|
|
NM_000290.4(PGAM2):c.714G>A (p.Thr238=)
|
|
|
NM_000290.4(PGAM2):c.720G>C (p.Arg240=)
|
|
|
NM_000290.4(PGAM2):c.81T>C (p.Asp27=)
|
|
|
NM_000292.3(PHKA2):c.1137+17G>A
|
|
|
NM_000292.3(PHKA2):c.1215C>T (p.Ser405=)
|
rs368320508
|
|
NM_000292.3(PHKA2):c.1221C>T (p.Tyr407=)
|
|
|
NM_000292.3(PHKA2):c.147C>T (p.Tyr49=)
|
|
|
NM_000292.3(PHKA2):c.1632G>A (p.Arg544=)
|
rs201710031
|
|
NM_000292.3(PHKA2):c.18T>C (p.Asn6=)
|
rs954792469
|
|
NM_000292.3(PHKA2):c.1942C>T (p.Leu648=)
|
|
|
NM_000292.3(PHKA2):c.1964-15C>A
|
|
|
NM_000292.3(PHKA2):c.216C>T (p.Ala72=)
|
|
|
NM_000292.3(PHKA2):c.2257G>A (p.Asp753Asn)
|
|
|
NM_000292.3(PHKA2):c.2360+12A>G
|
|
|
NM_000292.3(PHKA2):c.2398G>A (p.Gly800Arg)
|
|
|
NM_000292.3(PHKA2):c.2445C>T (p.Gly815=)
|
|
|
NM_000292.3(PHKA2):c.2578C>T (p.Arg860Trp)
|
|
|
NM_000292.3(PHKA2):c.2613G>A (p.Glu871=)
|
|
|
NM_000292.3(PHKA2):c.2802C>G (p.Cys934Trp)
|
|
|
NM_000292.3(PHKA2):c.2806+12G>A
|
|
|
NM_000292.3(PHKA2):c.2807-11T>C
|
|
|
NM_000292.3(PHKA2):c.286-15T>A
|
|
|
NM_000292.3(PHKA2):c.2895C>T (p.Gly965=)
|
|
|
NM_000292.3(PHKA2):c.3027+10C>T
|
|
|
NM_000292.3(PHKA2):c.3027+8C>A
|
|
|
NM_000292.3(PHKA2):c.3111+14G>A
|
rs759056537
|
|
NM_000292.3(PHKA2):c.3111+14G>T
|
rs759056537
|
|
NM_000292.3(PHKA2):c.3158C>T (p.Ser1053Leu)
|
|
|
NM_000292.3(PHKA2):c.3159G>A (p.Ser1053=)
|
|
|
NM_000292.3(PHKA2):c.3282+15G>A
|
|
|
NM_000292.3(PHKA2):c.3282+8G>A
|
|
|
NM_000292.3(PHKA2):c.3336+20G>T
|
|
|
NM_000292.3(PHKA2):c.3357G>A (p.Lys1119=)
|
|
|
NM_000292.3(PHKA2):c.3492G>A (p.Val1164=)
|
|
|
NM_000292.3(PHKA2):c.3492G>T (p.Val1164=)
|
rs754254758
|
|
NM_000292.3(PHKA2):c.3507G>A (p.Gln1169=)
|
|
|
NM_000292.3(PHKA2):c.354C>T (p.Thr118=)
|
|
|
NM_000292.3(PHKA2):c.3615G>C (p.Pro1205=)
|
|
|
NM_000292.3(PHKA2):c.3665A>C (p.Tyr1222Ser)
|
|
|
NM_000292.3(PHKA2):c.3690G>C (p.Ser1230=)
|
rs369001472
|
|
NM_000292.3(PHKA2):c.454+10G>A
|
|
|
NM_000292.3(PHKA2):c.454+9G>C
|
|
|
NM_000292.3(PHKA2):c.84C>T (p.Pro28=)
|
|
|
NM_000292.3(PHKA2):c.858G>A (p.Lys286=)
|
|
|
NM_000293.3(PHKB):c.1011G>T (p.Gly337=)
|
|
|
NM_000293.3(PHKB):c.1023A>G (p.Ser341=)
|
|
|
NM_000293.3(PHKB):c.1024T>C (p.Leu342=)
|
|
|
NM_000293.3(PHKB):c.1029A>G (p.Glu343=)
|
|
|
NM_000293.3(PHKB):c.105T>C (p.Ile35=)
|
|
|
NM_000293.3(PHKB):c.1068+13A>C
|
|
|
NM_000293.3(PHKB):c.1068+19T>C
|
|
|
NM_000293.3(PHKB):c.1069-10T>C
|
|
|
NM_000293.3(PHKB):c.1069-15T>C
|
|
|
NM_000293.3(PHKB):c.1069-9C>G
|
|
|
NM_000293.3(PHKB):c.1071A>G (p.Leu357=)
|
|
|
NM_000293.3(PHKB):c.1098C>T (p.Pro366=)
|
|
|
NM_000293.3(PHKB):c.1126+11T>C
|
|
|
NM_000293.3(PHKB):c.1126+1GTAA[3]
|
|
|
NM_000293.3(PHKB):c.1126+30_1126+52del
|
rs558528097
|
|
NM_000293.3(PHKB):c.1126+8A>G
|
|
|
NM_000293.3(PHKB):c.1126+9G>A
|
|
|
NM_000293.3(PHKB):c.1127-7A>G
|
|
|
NM_000293.3(PHKB):c.1134T>C (p.Phe378=)
|
|
|
NM_000293.3(PHKB):c.1179T>A (p.Thr393=)
|
rs2151700466
|
|
NM_000293.3(PHKB):c.1185A>G (p.Val395=)
|
|
|
NM_000293.3(PHKB):c.1197C>T (p.Thr399=)
|
|
|
NM_000293.3(PHKB):c.1204+11T>C
|
|
|
NM_000293.3(PHKB):c.1204+16T>A
|
|
|
NM_000293.3(PHKB):c.1204+19G>T
|
|
|
NM_000293.3(PHKB):c.1204+7T>C
|
|
|
NM_000293.3(PHKB):c.1204+8dup
|
|
|
NM_000293.3(PHKB):c.1204+9G>A
|
|
|
NM_000293.3(PHKB):c.1205-12del
|
|
|
NM_000293.3(PHKB):c.1205-14T>G
|
|
|
NM_000293.3(PHKB):c.1205-4A>G
|
|
|
NM_000293.3(PHKB):c.1205-8C>T
|
|
|
NM_000293.3(PHKB):c.1212T>G (p.Pro404=)
|
|
|
NM_000293.3(PHKB):c.1236G>A (p.Val412=)
|
|
|
NM_000293.3(PHKB):c.1239A>C (p.Pro413=)
|
|
|
NM_000293.3(PHKB):c.1257T>C (p.Tyr419=)
|
|
|
NM_000293.3(PHKB):c.126T>C (p.Asn42=)
|
|
|
NM_000293.3(PHKB):c.12G>C (p.Ala4=)
|
|
|
NM_000293.3(PHKB):c.1326T>C (p.Leu442=)
|
|
|
NM_000293.3(PHKB):c.1341T>G (p.Leu447=)
|
|
|
NM_000293.3(PHKB):c.1363+20A>G
|
|
|
NM_000293.3(PHKB):c.1364-11_1364-9del
|
|
|
NM_000293.3(PHKB):c.1364-11del
|
|
|
NM_000293.3(PHKB):c.1364-14C>G
|
|
|
NM_000293.3(PHKB):c.1364-16C>G
|
|
|
NM_000293.3(PHKB):c.1364-5T>C
|
|
|
NM_000293.3(PHKB):c.1374T>C (p.Leu458=)
|
|
|
NM_000293.3(PHKB):c.1380T>C (p.Ser460=)
|
|
|
NM_000293.3(PHKB):c.1389C>T (p.Asp463=)
|
|
|
NM_000293.3(PHKB):c.1404G>A (p.Gln468=)
|
|
|
NM_000293.3(PHKB):c.1413C>G (p.Val471=)
|
|
|
NM_000293.3(PHKB):c.1428A>G (p.Gln476=)
|
|
|
NM_000293.3(PHKB):c.1431T>C (p.Arg477=)
|
|
|
NM_000293.3(PHKB):c.1434C>T (p.Asn478=)
|
|
|
NM_000293.3(PHKB):c.1437G>A (p.Val479=)
|
|
|
NM_000293.3(PHKB):c.1458+10T>C
|
|
|
NM_000293.3(PHKB):c.1458+20C>A
|
|
|
NM_000293.3(PHKB):c.1459-10T>C
|
|
|
NM_000293.3(PHKB):c.1459-13T>C
|
|
|
NM_000293.3(PHKB):c.1459-17del
|
|
|
NM_000293.3(PHKB):c.1459-18C>G
|
|
|
NM_000293.3(PHKB):c.1459-5T>C
|
|
|
NM_000293.3(PHKB):c.1485T>C (p.Val495=)
|
|
|
NM_000293.3(PHKB):c.1514+11C>G
|
|
|
NM_000293.3(PHKB):c.1514+12A>T
|
|
|
NM_000293.3(PHKB):c.1514+20G>T
|
|
|
NM_000293.3(PHKB):c.1515-17A>G
|
|
|
NM_000293.3(PHKB):c.1515-8A>C
|
|
|
NM_000293.3(PHKB):c.1530G>T (p.Leu510=)
|
|
|
NM_000293.3(PHKB):c.1533C>T (p.Asn511=)
|
|
|
NM_000293.3(PHKB):c.1536A>G (p.Thr512=)
|
|
|
NM_000293.3(PHKB):c.1539T>C (p.Tyr513=)
|
|
|
NM_000293.3(PHKB):c.1557T>C (p.Thr519=)
|
|
|
NM_000293.3(PHKB):c.1563A>G (p.Gln521=)
|
|
|
NM_000293.3(PHKB):c.1596G>A (p.Gln532=)
|
|
|
NM_000293.3(PHKB):c.1608+13G>A
|
|
|
NM_000293.3(PHKB):c.1608+13G>T
|
|
|
NM_000293.3(PHKB):c.1608+18T>C
|
|
|
NM_000293.3(PHKB):c.1609-14C>G
|
|
|
NM_000293.3(PHKB):c.1609-14C>T
|
|
|
NM_000293.3(PHKB):c.1609-17A>C
|
|
|
NM_000293.3(PHKB):c.1609-18C>T
|
|
|
NM_000293.3(PHKB):c.1609-19A>G
|
|
|
NM_000293.3(PHKB):c.1609-7C>A
|
|
|
NM_000293.3(PHKB):c.1609-9G>A
|
|
|
NM_000293.3(PHKB):c.1611T>G (p.Ala537=)
|
|
|
NM_000293.3(PHKB):c.1615T>C (p.Leu539=)
|
|
|
NM_000293.3(PHKB):c.1647C>T (p.Leu549=)
|
|
|
NM_000293.3(PHKB):c.1650T>A (p.Ser550=)
|
|
|
NM_000293.3(PHKB):c.1665G>A (p.Arg555=)
|
|
|
NM_000293.3(PHKB):c.167-4G>T
|
|
|
NM_000293.3(PHKB):c.167-8A>G
|
|
|
NM_000293.3(PHKB):c.167-8A>T
|
|
|
NM_000293.3(PHKB):c.1680C>G (p.Leu560=)
|
|
|
NM_000293.3(PHKB):c.1680C>T (p.Leu560=)
|
|
|
NM_000293.3(PHKB):c.1686A>G (p.Thr562=)
|
|
|
NM_000293.3(PHKB):c.1692+19C>T
|
|
|
NM_000293.3(PHKB):c.1692+20A>T
|
|
|
NM_000293.3(PHKB):c.1693-20T>G
|
|
|
NM_000293.3(PHKB):c.1693-4A>C
|
|
|
NM_000293.3(PHKB):c.1693-7C>T
|
|
|
NM_000293.3(PHKB):c.1693-8C>T
|
|
|
NM_000293.3(PHKB):c.1693-9C>T
|
|
|
NM_000293.3(PHKB):c.1698T>C (p.Tyr566=)
|
|
|
NM_000293.3(PHKB):c.1707A>G (p.Leu569=)
|
|
|
NM_000293.3(PHKB):c.1731G>A (p.Pro577=)
|
|
|
NM_000293.3(PHKB):c.1731G>T (p.Pro577=)
|
|
|
NM_000293.3(PHKB):c.174A>T (p.Ser58=)
|
|
|
NM_000293.3(PHKB):c.1779G>T (p.Leu593=)
|
|
|
NM_000293.3(PHKB):c.1782G>A (p.Leu594=)
|
|
|
NM_000293.3(PHKB):c.1782G>T (p.Leu594=)
|
|
|
NM_000293.3(PHKB):c.1788T>C (p.Asp596=)
|
|
|
NM_000293.3(PHKB):c.1797+11A>G
|
|
|
NM_000293.3(PHKB):c.1797+12A>G
|
|
|
NM_000293.3(PHKB):c.1797+13C>T
|
|
|
NM_000293.3(PHKB):c.1797+19T>C
|
|
|
NM_000293.3(PHKB):c.1797+20C>T
|
|
|
NM_000293.3(PHKB):c.1798-19A>G
|
|
|
NM_000293.3(PHKB):c.1798-9G>C
|
|
|
NM_000293.3(PHKB):c.1800T>C (p.Asn600=)
|
|
|
NM_000293.3(PHKB):c.180G>A (p.Leu60=)
|
|
|
NM_000293.3(PHKB):c.1818A>G (p.Lys606=)
|
|
|
NM_000293.3(PHKB):c.1824T>C (p.Tyr608=)
|
|
|
NM_000293.3(PHKB):c.1845A>C (p.Pro615=)
|
|
|
NM_000293.3(PHKB):c.1860C>T (p.Leu620=)
|
|
|
NM_000293.3(PHKB):c.186G>A (p.Leu62=)
|
|
|
NM_000293.3(PHKB):c.186G>C (p.Leu62=)
|
|
|
NM_000293.3(PHKB):c.1880+11A>G
|
|
|
NM_000293.3(PHKB):c.1881-10T>C
|
|
|
NM_000293.3(PHKB):c.1881-11A>G
|
|
|
NM_000293.3(PHKB):c.1881-13_1881-10del
|
|
|
NM_000293.3(PHKB):c.1881-9A>G
|
|
|
NM_000293.3(PHKB):c.1887C>T (p.Ser629=)
|
|
|
NM_000293.3(PHKB):c.1893C>T (p.Phe631=)
|
|
|
NM_000293.3(PHKB):c.1899C>T (p.Pro633=)
|
|
|
NM_000293.3(PHKB):c.18A>T (p.Gly6=)
|
|
|
NM_000293.3(PHKB):c.1917A>G (p.Ala639=)
|
|
|
NM_000293.3(PHKB):c.1926A>G (p.Lys642=)
|
|
|
NM_000293.3(PHKB):c.1929A>G (p.Lys643=)
|
|
|
NM_000293.3(PHKB):c.1938T>C (p.Ile646=)
|
|
|
NM_000293.3(PHKB):c.1941A>T (p.Gly647=)
|
rs551223829
|
|
NM_000293.3(PHKB):c.1956T>C (p.His652=)
|
|
|
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys)
|
rs34667348
|
|
NM_000293.3(PHKB):c.1971+19G>A
|
|
|
NM_000293.3(PHKB):c.1972-11T>A
|
|
|
NM_000293.3(PHKB):c.1972-13G>A
|
|
|
NM_000293.3(PHKB):c.1972-13G>T
|
|
|
NM_000293.3(PHKB):c.1972-14C>T
|
|
|
NM_000293.3(PHKB):c.1972-9A>G
|
|
|
NM_000293.3(PHKB):c.198A>C (p.Pro66=)
|
|
|
NM_000293.3(PHKB):c.1992G>A (p.Val664=)
|
|
|
NM_000293.3(PHKB):c.1992G>T (p.Val664=)
|
|
|
NM_000293.3(PHKB):c.2019C>T (p.Ile673=)
|
|
|
NM_000293.3(PHKB):c.2033+11T>G
|
|
|
NM_000293.3(PHKB):c.2033+15G>A
|
|
|
NM_000293.3(PHKB):c.2034-10T>G
|
|
|
NM_000293.3(PHKB):c.2034-16T>C
|
|
|
NM_000293.3(PHKB):c.2034-19C>T
|
|
|
NM_000293.3(PHKB):c.2034-20C>A
|
|
|
NM_000293.3(PHKB):c.2046T>C (p.Phe682=)
|
|
|
NM_000293.3(PHKB):c.204C>G (p.Thr68=)
|
|
|
NM_000293.3(PHKB):c.2064A>G (p.Leu688=)
|
|
|
NM_000293.3(PHKB):c.2073C>T (p.Pro691=)
|
|
|
NM_000293.3(PHKB):c.2094G>A (p.Arg698=)
|
|
|
NM_000293.3(PHKB):c.2106C>A (p.Thr702=)
|
|
|
NM_000293.3(PHKB):c.2175C>T (p.His725=)
|
|
|
NM_000293.3(PHKB):c.2181T>C (p.Ile727=)
|
|
|
NM_000293.3(PHKB):c.2196+18C>T
|
|
|
NM_000293.3(PHKB):c.2196+19C>T
|
|
|
NM_000293.3(PHKB):c.2197-10A>G
|
|
|
NM_000293.3(PHKB):c.2197-14A>T
|
|
|
NM_000293.3(PHKB):c.2197-18C>G
|
|
|
NM_000293.3(PHKB):c.2197-18C>T
|
|
|
NM_000293.3(PHKB):c.219T>C (p.Thr73=)
|
|
|
NM_000293.3(PHKB):c.21C>T (p.Leu7=)
|
|
|
NM_000293.3(PHKB):c.2208T>C (p.Cys736=)
|
|
|
NM_000293.3(PHKB):c.2214T>C (p.Ala738=)
|
|
|
NM_000293.3(PHKB):c.2229G>A (p.Leu743=)
|
|
|
NM_000293.3(PHKB):c.2253A>G (p.Glu751=)
|
|
|
NM_000293.3(PHKB):c.2256C>T (p.Gly752=)
|
|
|
NM_000293.3(PHKB):c.2259C>T (p.Pro753=)
|
|
|
NM_000293.3(PHKB):c.225A>C (p.Thr75=)
|
|
|
NM_000293.3(PHKB):c.2278+11A>G
|
|
|
NM_000293.3(PHKB):c.2278+16T>C
|
|
|
NM_000293.3(PHKB):c.2278+8T>G
|
|
|
NM_000293.3(PHKB):c.2278+9G>T
|
rs1402083021
|
|
NM_000293.3(PHKB):c.2279-6G>A
|
|
|
NM_000293.3(PHKB):c.2279-7T>C
|
|
|
NM_000293.3(PHKB):c.2283C>A (p.Thr761=)
|
|
|
NM_000293.3(PHKB):c.2283C>T (p.Thr761=)
|
rs775960919
|
|
NM_000293.3(PHKB):c.228C>T (p.Cys76=)
|
|
|
NM_000293.3(PHKB):c.2295C>T (p.His765=)
|
|
|
NM_000293.3(PHKB):c.2301G>A (p.Glu767=)
|
|
|
NM_000293.3(PHKB):c.2331A>G (p.Lys777=)
|
|
|
NM_000293.3(PHKB):c.2336+13G>T
|
|
|
NM_000293.3(PHKB):c.2336+18T>C
|
|
|
NM_000293.3(PHKB):c.2336+19G>A
|
|
|
NM_000293.3(PHKB):c.2336+19G>T
|
|
|
NM_000293.3(PHKB):c.2336+22_2336+24del
|
|
|
NM_000293.3(PHKB):c.2337-12T>G
|
|
|
NM_000293.3(PHKB):c.2346G>A (p.Val782=)
|
|
|
NM_000293.3(PHKB):c.234T>C (p.Gly78=)
|
|
|
NM_000293.3(PHKB):c.2361A>G (p.Ala787=)
|
|
|
NM_000293.3(PHKB):c.2370G>A (p.Gln790=)
|
|
|
NM_000293.3(PHKB):c.2385T>C (p.Ser795=)
|
|
|
NM_000293.3(PHKB):c.2418T>C (p.His806=)
|
|
|
NM_000293.3(PHKB):c.2424A>G (p.Lys808=)
|
|
|
NM_000293.3(PHKB):c.2427+1017T>C
|
|
|
NM_000293.3(PHKB):c.2427+1021C>T
|
|
|
NM_000293.3(PHKB):c.2427+1024A>G
|
|
|
NM_000293.3(PHKB):c.2427+1034A>G
|
|
|
NM_000293.3(PHKB):c.2427+1051C>A
|
|
|
NM_000293.3(PHKB):c.2427+1053A>G
|
rs375085518
|
|
NM_000293.3(PHKB):c.2427+1064A>G
|
|
|
NM_000293.3(PHKB):c.2427+1068G>T
|
|
|
NM_000293.3(PHKB):c.2427+1069C>T
|
|
|
NM_000293.3(PHKB):c.2427+1071T>C
|
|
|
NM_000293.3(PHKB):c.2427+17T>C
|
|
|
NM_000293.3(PHKB):c.2427+947G>A
|
|
|
NM_000293.3(PHKB):c.2427+947G>C
|
|
|
NM_000293.3(PHKB):c.2427+952C>A
|
|
|
NM_000293.3(PHKB):c.2427+952C>G
|
|
|
NM_000293.3(PHKB):c.2427+959G>A
|
|
|
NM_000293.3(PHKB):c.2427+962C>A
|
|
|
NM_000293.3(PHKB):c.2427+962C>T
|
|
|
NM_000293.3(PHKB):c.2427+963C>G
|
|
|
NM_000293.3(PHKB):c.2427+964del
|
rs762091938
|
|
NM_000293.3(PHKB):c.2427+970G>A
|
|
|
NM_000293.3(PHKB):c.2427+977C>T
|
|
|
NM_000293.3(PHKB):c.2427+980C>T
|
|
|
NM_000293.3(PHKB):c.2427+981G>A
|
|
|
NM_000293.3(PHKB):c.2427+981G>T
|
|
|
NM_000293.3(PHKB):c.2427+986G>A
|
|
|
NM_000293.3(PHKB):c.2427+990G>A
|
|
|
NM_000293.3(PHKB):c.2428-11G>A
|
|
|
NM_000293.3(PHKB):c.2428-13C>A
|
|
|
NM_000293.3(PHKB):c.2428-13C>G
|
|
|
NM_000293.3(PHKB):c.2428-4G>T
|
|
|
NM_000293.3(PHKB):c.2430A>G (p.Val810=)
|
|
|
NM_000293.3(PHKB):c.2448G>A (p.Gly816=)
|
|
|
NM_000293.3(PHKB):c.2520C>T (p.Asn840=)
|
|
|
NM_000293.3(PHKB):c.2538A>G (p.Glu846=)
|
|
|
NM_000293.3(PHKB):c.2541G>A (p.Ala847=)
|
|
|
NM_000293.3(PHKB):c.2541G>C (p.Ala847=)
|
|
|
NM_000293.3(PHKB):c.2550G>A (p.Gln850=)
|
|
|
NM_000293.3(PHKB):c.2559G>C (p.Leu853=)
|
|
|
NM_000293.3(PHKB):c.2574C>A (p.Gly858=)
|
|
|
NM_000293.3(PHKB):c.2583C>A (p.Ile861=)
|
|
|
NM_000293.3(PHKB):c.2625A>C (p.Arg875=)
|
|
|
NM_000293.3(PHKB):c.2628C>T (p.Ile876=)
|
|
|
NM_000293.3(PHKB):c.2630+13del
|
|
|
NM_000293.3(PHKB):c.2630+17G>T
|
|
|
NM_000293.3(PHKB):c.2630+7G>A
|
|
|
NM_000293.3(PHKB):c.2631-14C>T
|
|
|
NM_000293.3(PHKB):c.2631-15C>T
|
|
|
NM_000293.3(PHKB):c.2631-16C>G
|
|
|
NM_000293.3(PHKB):c.2631-6T>A
|
|
|
NM_000293.3(PHKB):c.2637C>T (p.Ile879=)
|
|
|
NM_000293.3(PHKB):c.2652G>A (p.Glu884=)
|
|
|
NM_000293.3(PHKB):c.2667C>A (p.Ile889=)
|
|
|
NM_000293.3(PHKB):c.2709A>G (p.Ser903=)
|
|
|
NM_000293.3(PHKB):c.2745G>A (p.Leu915=)
|
|
|
NM_000293.3(PHKB):c.2760T>C (p.Asn920=)
|
|
|
NM_000293.3(PHKB):c.2765+10G>A
|
|
|
NM_000293.3(PHKB):c.2765+11C>A
|
|
|
NM_000293.3(PHKB):c.2765+11C>T
|
|
|
NM_000293.3(PHKB):c.2765+14C>G
|
|
|
NM_000293.3(PHKB):c.2765+14C>T
|
|
|
NM_000293.3(PHKB):c.2765+15T>C
|
|
|
NM_000293.3(PHKB):c.2765+7A>C
|
|
|
NM_000293.3(PHKB):c.2766-12C>T
|
|
|
NM_000293.3(PHKB):c.2766-14G>C
|
|
|
NM_000293.3(PHKB):c.2766-18A>G
|
|
|
NM_000293.3(PHKB):c.2766-5T>A
|
|
|
NM_000293.3(PHKB):c.2766-9T>C
|
|
|
NM_000293.3(PHKB):c.2778C>T (p.Asn926=)
|
|
|
NM_000293.3(PHKB):c.2790C>T (p.Ile930=)
|
|
|
NM_000293.3(PHKB):c.279G>A (p.Gly93=)
|
|
|
NM_000293.3(PHKB):c.27A>C (p.Ala9=)
|
|
|
NM_000293.3(PHKB):c.27A>G (p.Ala9=)
|
|
|
NM_000293.3(PHKB):c.2817C>T (p.Thr939=)
|
|
|
NM_000293.3(PHKB):c.2835G>A (p.Val945=)
|
|
|
NM_000293.3(PHKB):c.2856G>T (p.Thr952=)
|
|
|
NM_000293.3(PHKB):c.2871T>A (p.Ile957=)
|
|
|
NM_000293.3(PHKB):c.2895+13C>T
|
|
|
NM_000293.3(PHKB):c.2895+14A>G
|
|
|
NM_000293.3(PHKB):c.2895+15T>C
|
|
|
NM_000293.3(PHKB):c.2896-19G>A
|
|
|
NM_000293.3(PHKB):c.2901A>C (p.Pro967=)
|
|
|
NM_000293.3(PHKB):c.2907G>A (p.Leu969=)
|
|
|
NM_000293.3(PHKB):c.2925T>C (p.Tyr975=)
|
|
|
NM_000293.3(PHKB):c.294T>A (p.Ala98=)
|
|
|
NM_000293.3(PHKB):c.2959T>C (p.Leu987=)
|
|
|
NM_000293.3(PHKB):c.2970T>C (p.Ile990=)
|
|
|
NM_000293.3(PHKB):c.297T>C (p.Leu99=)
|
|
|
NM_000293.3(PHKB):c.2982G>A (p.Gln994=)
|
|
|
NM_000293.3(PHKB):c.2985C>T (p.Tyr995=)
|
|
|
NM_000293.3(PHKB):c.2994C>T (p.Ile998=)
|
|
|
NM_000293.3(PHKB):c.3003+12G>A
|
|
|
NM_000293.3(PHKB):c.3003+12del
|
|
|
NM_000293.3(PHKB):c.3004-11G>C
|
|
|
NM_000293.3(PHKB):c.3004-18A>G
|
|
|
NM_000293.3(PHKB):c.3004-7C>G
|
|
|
NM_000293.3(PHKB):c.300A>G (p.Ala100=)
|
|
|
NM_000293.3(PHKB):c.3015T>G (p.Val1005=)
|
|
|
NM_000293.3(PHKB):c.3018A>G (p.Val1006=)
|
|
|
NM_000293.3(PHKB):c.3021C>A (p.Ser1007=)
|
|
|
NM_000293.3(PHKB):c.3024T>C (p.Ile1008=)
|
|
|
NM_000293.3(PHKB):c.3039C>T (p.Asn1013=)
|
rs151222947
|
|
NM_000293.3(PHKB):c.305+13G>A
|
|
|
NM_000293.3(PHKB):c.305+20C>T
|
|
|
NM_000293.3(PHKB):c.305+21_305+23del
|
|
|
NM_000293.3(PHKB):c.305+7T>C
|
|
|
NM_000293.3(PHKB):c.3051A>G (p.Glu1017=)
|
|
|
NM_000293.3(PHKB):c.306-15A>C
|
|
|
NM_000293.3(PHKB):c.306-4C>T
|
|
|
NM_000293.3(PHKB):c.3066A>G (p.Val1022=)
|
|
|
NM_000293.3(PHKB):c.3079C>T (p.Leu1027=)
|
|
|
NM_000293.3(PHKB):c.307C>A (p.Arg103=)
|
|
|
NM_000293.3(PHKB):c.3108A>G (p.Gln1036=)
|
|
|
NM_000293.3(PHKB):c.3144+11A>G
|
|
|
NM_000293.3(PHKB):c.3144+17_3144+18insC
|
|
|
NM_000293.3(PHKB):c.3144+17_3144+18insCT
|
|
|
NM_000293.3(PHKB):c.3144+23_3144+34del
|
|
|
NM_000293.3(PHKB):c.3144+24_3144+34del
|
|
|
NM_000293.3(PHKB):c.3144+7A>G
|
|
|
NM_000293.3(PHKB):c.3144+9A>G
|
|
|
NM_000293.3(PHKB):c.3145-14G>A
|
|
|
NM_000293.3(PHKB):c.3145-15dup
|
|
|
NM_000293.3(PHKB):c.3145-20C>A
|
|
|
NM_000293.3(PHKB):c.3213G>A (p.Lys1071=)
|
|
|
NM_000293.3(PHKB):c.3228G>T (p.Leu1076=)
|
|
|
NM_000293.3(PHKB):c.3231G>A (p.Leu1077=)
|
|
|
NM_000293.3(PHKB):c.3234G>A (p.Leu1078=)
|
|
|
NM_000293.3(PHKB):c.3282G>A (p.Ter1094=)
|
|
|
NM_000293.3(PHKB):c.330G>A (p.Arg110=)
|
|
|
NM_000293.3(PHKB):c.363C>T (p.Cys121=)
|
|
|
NM_000293.3(PHKB):c.381C>T (p.Tyr127=)
|
|
|
NM_000293.3(PHKB):c.38G>A (p.Trp13Ter)
|
|
|
NM_000293.3(PHKB):c.399C>T (p.Ala133=)
|
|
|
NM_000293.3(PHKB):c.405+10T>G
|
|
|
NM_000293.3(PHKB):c.405+11G>T
|
|
|
NM_000293.3(PHKB):c.405+14G>A
|
|
|
NM_000293.3(PHKB):c.405+15T>C
|
|
|
NM_000293.3(PHKB):c.405+16G>T
|
|
|
NM_000293.3(PHKB):c.405+19G>A
|
|
|
NM_000293.3(PHKB):c.405+7C>T
|
|
|
NM_000293.3(PHKB):c.405+8A>G
|
|
|
NM_000293.3(PHKB):c.405+9T>A
|
|
|
NM_000293.3(PHKB):c.405+9T>C
|
|
|
NM_000293.3(PHKB):c.406-14A>G
|
|
|
NM_000293.3(PHKB):c.42G>A (p.Lys14=)
|
|
|
NM_000293.3(PHKB):c.432C>T (p.Arg144=)
|
|
|
NM_000293.3(PHKB):c.438A>G (p.Thr146=)
|
|
|
NM_000293.3(PHKB):c.441A>T (p.Thr147=)
|
|
|
NM_000293.3(PHKB):c.444T>C (p.Cys148=)
|
|
|
NM_000293.3(PHKB):c.45C>T (p.Val15=)
|
|
|
NM_000293.3(PHKB):c.474A>G (p.Gly158=)
|
|
|
NM_000293.3(PHKB):c.513+11A>G
|
|
|
NM_000293.3(PHKB):c.513+14A>T
|
|
|
NM_000293.3(PHKB):c.513+17C>T
|
|
|
NM_000293.3(PHKB):c.514-12T>C
|
|
|
NM_000293.3(PHKB):c.514-19_514-15del
|
|
|
NM_000293.3(PHKB):c.525G>A (p.Val175=)
|
|
|
NM_000293.3(PHKB):c.543C>T (p.Tyr181=)
|
|
|
NM_000293.3(PHKB):c.546T>G (p.Leu182=)
|
|
|
NM_000293.3(PHKB):c.570C>A (p.Leu190=)
|
|
|
NM_000293.3(PHKB):c.594+10C>T
|
|
|
NM_000293.3(PHKB):c.594+9T>C
|
|
|
NM_000293.3(PHKB):c.595-13C>A
|
|
|
NM_000293.3(PHKB):c.595-18C>T
|
|
|
NM_000293.3(PHKB):c.595-6T>C
|
|
|
NM_000293.3(PHKB):c.595-7C>A
|
|
|
NM_000293.3(PHKB):c.597C>T (p.Val199=)
|
|
|
NM_000293.3(PHKB):c.615T>C (p.Leu205=)
|
|
|
NM_000293.3(PHKB):c.618A>G (p.Val206=)
|
|
|
NM_000293.3(PHKB):c.636T>C (p.Val212=)
|
|
|
NM_000293.3(PHKB):c.642T>C (p.Arg214=)
|
|
|
NM_000293.3(PHKB):c.645G>T (p.Val215=)
|
|
|
NM_000293.3(PHKB):c.66C>T (p.Thr22=)
|
|
|
NM_000293.3(PHKB):c.672A>G (p.Gly224=)
|
|
|
NM_000293.3(PHKB):c.687T>C (p.Asn229=)
|
|
|
NM_000293.3(PHKB):c.696A>G (p.Thr232=)
|
|
|
NM_000293.3(PHKB):c.6G>C (p.Ala2=)
|
|
|
NM_000293.3(PHKB):c.6G>T (p.Ala2=)
|
|
|
NM_000293.3(PHKB):c.708G>A (p.Ser236=)
|
|
|
NM_000293.3(PHKB):c.710+14T>A
|
|
|
NM_000293.3(PHKB):c.710+19A>C
|
|
|
NM_000293.3(PHKB):c.710+20G>A
|
|
|
NM_000293.3(PHKB):c.710+20G>T
|
|
|
NM_000293.3(PHKB):c.711-10T>C
|
|
|
NM_000293.3(PHKB):c.711-12T>A
|
|
|
NM_000293.3(PHKB):c.711-4T>C
|
|
|
NM_000293.3(PHKB):c.714G>T (p.Ser238=)
|
rs772326970
|
|
NM_000293.3(PHKB):c.720T>C (p.Gly240=)
|
|
|
NM_000293.3(PHKB):c.72C>T (p.Arg24=)
|
|
|
NM_000293.3(PHKB):c.735T>C (p.Ala245=)
|
|
|
NM_000293.3(PHKB):c.738A>G (p.Leu246=)
|
|
|
NM_000293.3(PHKB):c.744A>C (p.Ala248=)
|
|
|
NM_000293.3(PHKB):c.76+10G>T
|
|
|
NM_000293.3(PHKB):c.76+15G>T
|
|
|
NM_000293.3(PHKB):c.76+18G>A
|
|
|
NM_000293.3(PHKB):c.76+20C>T
|
|
|
NM_000293.3(PHKB):c.76+2527T>A
|
|
|
NM_000293.3(PHKB):c.76+2530T>G
|
|
|
NM_000293.3(PHKB):c.76+2533A>C
|
|
|
NM_000293.3(PHKB):c.76+2542T>C
|
|
|
NM_000293.3(PHKB):c.76+2544C>T
|
|
|
NM_000293.3(PHKB):c.76+2545G>C
|
|
|
NM_000293.3(PHKB):c.76+2551C>T
|
|
|
NM_000293.3(PHKB):c.76+2562G>C
|
|
|
NM_000293.3(PHKB):c.76+2568G>A
|
|
|
NM_000293.3(PHKB):c.76+2574G>C
|
|
|
NM_000293.3(PHKB):c.76+2575T>G
|
|
|
NM_000293.3(PHKB):c.76+2584C>A
|
|
|
NM_000293.3(PHKB):c.76+2585C>G
|
|
|
NM_000293.3(PHKB):c.76+2586A>G
|
|
|
NM_000293.3(PHKB):c.76+8T>A
|
|
|
NM_000293.3(PHKB):c.77-17T>C
|
|
|
NM_000293.3(PHKB):c.77-18T>C
|
|
|
NM_000293.3(PHKB):c.77-8T>C
|
|
|
NM_000293.3(PHKB):c.774+12G>A
|
|
|
NM_000293.3(PHKB):c.774+16C>T
|
|
|
NM_000293.3(PHKB):c.774+20G>A
|
|
|
NM_000293.3(PHKB):c.775-15T>G
|
|
|
NM_000293.3(PHKB):c.775-17T>G
|
|
|
NM_000293.3(PHKB):c.775-20T>G
|
|
|
NM_000293.3(PHKB):c.775-7T>C
|
|
|
NM_000293.3(PHKB):c.783G>A (p.Ser261=)
|
|
|
NM_000293.3(PHKB):c.798T>C (p.Phe266=)
|
|
|
NM_000293.3(PHKB):c.807C>T (p.Leu269=)
|
|
|
NM_000293.3(PHKB):c.81A>C (p.Ser27=)
|
|
|
NM_000293.3(PHKB):c.843G>A (p.Ser281=)
|
|
|
NM_000293.3(PHKB):c.870+12A>C
|
|
|
NM_000293.3(PHKB):c.870+15_870+17del
|
|
|
NM_000293.3(PHKB):c.871-20C>T
|
|
|
NM_000293.3(PHKB):c.871-5T>A
|
|
|
NM_000293.3(PHKB):c.871-5T>C
|
|
|
NM_000293.3(PHKB):c.871-7C>T
|
|
|
NM_000293.3(PHKB):c.871-8G>T
|
|
|
NM_000293.3(PHKB):c.876A>G (p.Thr292=)
|
|
|
NM_000293.3(PHKB):c.886C>T (p.Leu296=)
|
|
|
NM_000293.3(PHKB):c.906T>C (p.Tyr302=)
|
|
|
NM_000293.3(PHKB):c.921G>A (p.Leu307=)
|
|
|
NM_000293.3(PHKB):c.951T>C (p.Leu317=)
|
|
|
NM_000294.3(PHKG2):c.1002T>C (p.Asn334=)
|
|
|
NM_000294.3(PHKG2):c.1008G>T (p.Leu336=)
|
|
|
NM_000294.3(PHKG2):c.1012A>C (p.Arg338=)
|
|
|
NM_000294.3(PHKG2):c.1017C>T (p.Asp339=)
|
|
|
NM_000294.3(PHKG2):c.1023T>C (p.Tyr341=)
|
|
|
NM_000294.3(PHKG2):c.1027C>T (p.Leu343=)
|
|
|
NM_000294.3(PHKG2):c.1032G>A (p.Arg344=)
|
|
|
NM_000294.3(PHKG2):c.1032G>T (p.Arg344=)
|
|
|
NM_000294.3(PHKG2):c.1035A>G (p.Ser345=)
|
rs2151310822
|
|
NM_000294.3(PHKG2):c.1044C>T (p.His348=)
|
|
|
NM_000294.3(PHKG2):c.1050C>A (p.Ile350=)
|
|
|
NM_000294.3(PHKG2):c.1050C>T (p.Ile350=)
|
rs371914785
|
|
NM_000294.3(PHKG2):c.1053C>T (p.Asp351=)
|
|
|
NM_000294.3(PHKG2):c.1074C>T (p.Tyr358=)
|
|
|
NM_000294.3(PHKG2):c.1089G>A (p.Lys363=)
|
|
|
NM_000294.3(PHKG2):c.1095G>A (p.Gly365=)
|
|
|
NM_000294.3(PHKG2):c.1113G>A (p.Ala371=)
|
|
|
NM_000294.3(PHKG2):c.1134C>T (p.Pro378=)
|
|
|
NM_000294.3(PHKG2):c.1143T>A (p.Pro381=)
|
|
|
NM_000294.3(PHKG2):c.1143T>C (p.Pro381=)
|
|
|
NM_000294.3(PHKG2):c.1149C>G (p.Pro383=)
|
|
|
NM_000294.3(PHKG2):c.114C>G (p.Val38=)
|
|
|
NM_000294.3(PHKG2):c.114C>T (p.Val38=)
|
|
|
NM_000294.3(PHKG2):c.1170G>A (p.Glu390=)
|
|
|
NM_000294.3(PHKG2):c.1179T>C (p.Ser393=)
|
|
|
NM_000294.3(PHKG2):c.1191T>C (p.Thr397=)
|
|
|
NM_000294.3(PHKG2):c.1203C>T (p.Ala401=)
|
|
|
NM_000294.3(PHKG2):c.1206G>T (p.Val402=)
|
|
|
NM_000294.3(PHKG2):c.1215G>A (p.Leu405=)
|
|
|
NM_000294.3(PHKG2):c.138T>G (p.Thr46=)
|
|
|
NM_000294.3(PHKG2):c.144C>T (p.His48=)
|
|
|
NM_000294.3(PHKG2):c.156G>A (p.Val52=)
|
|
|
NM_000294.3(PHKG2):c.177T>C (p.Ala59=)
|
|
|
NM_000294.3(PHKG2):c.180G>A (p.Glu60=)
|
|
|
NM_000294.3(PHKG2):c.189T>C (p.Ser63=)
|
|
|
NM_000294.3(PHKG2):c.18G>T (p.Gly6=)
|
|
|
NM_000294.3(PHKG2):c.199C>T (p.Leu67=)
|
|
|
NM_000294.3(PHKG2):c.21G>C (p.Pro7=)
|
|
|
NM_000294.3(PHKG2):c.24G>A (p.Glu8=)
|
|
|
NM_000294.3(PHKG2):c.252C>T (p.Val84=)
|
|
|
NM_000294.3(PHKG2):c.255C>T (p.Ala85=)
|
|
|
NM_000294.3(PHKG2):c.264C>G (p.Pro88=)
|
|
|
NM_000294.3(PHKG2):c.271+12T>C
|
|
|
NM_000294.3(PHKG2):c.271+14C>T
|
rs572169140
|
|
NM_000294.3(PHKG2):c.271+19C>T
|
|
|
NM_000294.3(PHKG2):c.272-12C>G
|
|
|
NM_000294.3(PHKG2):c.272-12C>T
|
|
|
NM_000294.3(PHKG2):c.272-15T>C
|
|
|
NM_000294.3(PHKG2):c.272-18C>T
|
|
|
NM_000294.3(PHKG2):c.272-9T>C
|
|
|
NM_000294.3(PHKG2):c.273C>T (p.Ile91=)
|
|
|
NM_000294.3(PHKG2):c.276C>T (p.Thr92=)
|
|
|
NM_000294.3(PHKG2):c.282C>T (p.Ile94=)
|
|
|
NM_000294.3(PHKG2):c.285T>C (p.Asp95=)
|
|
|
NM_000294.3(PHKG2):c.288C>G (p.Ser96=)
|
|
|
NM_000294.3(PHKG2):c.291C>T (p.Tyr97=)
|
|
|
NM_000294.3(PHKG2):c.313C>T (p.Leu105=)
|
|
|
NM_000294.3(PHKG2):c.326+15G>C
|
|
|
NM_000294.3(PHKG2):c.327-15C>T
|
|
|
NM_000294.3(PHKG2):c.327-16C>T
|
|
|
NM_000294.3(PHKG2):c.327-17G>A
|
|
|
NM_000294.3(PHKG2):c.327-7C>T
|
|
|
NM_000294.3(PHKG2):c.336G>A (p.Lys112=)
|
|
|
NM_000294.3(PHKG2):c.357C>G (p.Leu119=)
|
|
|
NM_000294.3(PHKG2):c.366G>A (p.Lys122=)
|
|
|
NM_000294.3(PHKG2):c.369G>T (p.Val123=)
|
|
|
NM_000294.3(PHKG2):c.392+10G>A
|
|
|
NM_000294.3(PHKG2):c.392+13C>T
|
|
|
NM_000294.3(PHKG2):c.392+18A>C
|
|
|
NM_000294.3(PHKG2):c.392+19G>T
|
|
|
NM_000294.3(PHKG2):c.392+7G>T
|
|
|
NM_000294.3(PHKG2):c.393-12C>G
|
|
|
NM_000294.3(PHKG2):c.393-12C>T
|
|
|
NM_000294.3(PHKG2):c.393-18C>T
|
|
|
NM_000294.3(PHKG2):c.393-4C>T
|
rs2053377288
|
|
NM_000294.3(PHKG2):c.393-7C>T
|
|
|
NM_000294.3(PHKG2):c.420A>G (p.Ala140=)
|
|
|
NM_000294.3(PHKG2):c.454C>A (p.Arg152=)
|
|
|
NM_000294.3(PHKG2):c.459T>C (p.Asp153=)
|
|
|
NM_000294.3(PHKG2):c.468C>T (p.Pro156=)
|
|
|
NM_000294.3(PHKG2):c.480C>T (p.Leu160=)
|
|
|
NM_000294.3(PHKG2):c.489C>T (p.Asp163=)
|
|
|
NM_000294.3(PHKG2):c.48C>T (p.Ala16=)
|
|
|
NM_000294.3(PHKG2):c.492T>C (p.Asn164=)
|
|
|
NM_000294.3(PHKG2):c.519G>T (p.Gly173=)
|
|
|
NM_000294.3(PHKG2):c.51C>T (p.Ala17=)
|
|
|
NM_000294.3(PHKG2):c.531C>T (p.His177=)
|
|
|
NM_000294.3(PHKG2):c.543C>A (p.Gly181=)
|
|
|
NM_000294.3(PHKG2):c.556+11C>G
|
rs2053379816
|
|
NM_000294.3(PHKG2):c.556+14G>A
|
|
|
NM_000294.3(PHKG2):c.556+18C>T
|
|
|
NM_000294.3(PHKG2):c.556+8G>T
|
|
|
NM_000294.3(PHKG2):c.557-13C>T
|
|
|
NM_000294.3(PHKG2):c.557-20T>C
|
|
|
NM_000294.3(PHKG2):c.561G>A (p.Leu187=)
|
|
|
NM_000294.3(PHKG2):c.576G>A (p.Gly192=)
|
|
|
NM_000294.3(PHKG2):c.591G>A (p.Glu197=)
|
|
|
NM_000294.3(PHKG2):c.594C>T (p.Ile198=)
|
|
|
NM_000294.3(PHKG2):c.612T>C (p.Asp204=)
|
|
|
NM_000294.3(PHKG2):c.618C>T (p.Thr206=)
|
|
|
NM_000294.3(PHKG2):c.627C>T (p.Gly209=)
|
|
|
NM_000294.3(PHKG2):c.630T>C (p.Tyr210=)
|
|
|
NM_000294.3(PHKG2):c.642C>T (p.Val214=)
|
|
|
NM_000294.3(PHKG2):c.645C>T (p.Asp215=)
|
|
|
NM_000294.3(PHKG2):c.647+12G>A
|
|
|
NM_000294.3(PHKG2):c.647+14C>T
|
|
|
NM_000294.3(PHKG2):c.647+17C>G
|
|
|
NM_000294.3(PHKG2):c.647+20C>G
|
|
|
NM_000294.3(PHKG2):c.648-11C>T
|
|
|
NM_000294.3(PHKG2):c.648-13G>A
|
|
|
NM_000294.3(PHKG2):c.648-15C>T
|
|
|
NM_000294.3(PHKG2):c.648-4C>G
|
|
|
NM_000294.3(PHKG2):c.648-7T>C
|
|
|
NM_000294.3(PHKG2):c.663G>A (p.Val221=)
|
|
|
NM_000294.3(PHKG2):c.678C>T (p.Leu226=)
|
|
|
NM_000294.3(PHKG2):c.690G>A (p.Ser230=)
|
|
|
NM_000294.3(PHKG2):c.696C>G (p.Pro232=)
|
|
|
NM_000294.3(PHKG2):c.6G>T (p.Thr2=)
|
|
|
NM_000294.3(PHKG2):c.705C>T (p.His235=)
|
|
|
NM_000294.3(PHKG2):c.718C>T (p.Leu240=)
|
|
|
NM_000294.3(PHKG2):c.720G>A (p.Leu240=)
|
|
|
NM_000294.3(PHKG2):c.729C>T (p.Arg243=)
|
|
|
NM_000294.3(PHKG2):c.72C>T (p.Tyr24=)
|
|
|
NM_000294.3(PHKG2):c.756C>T (p.Phe252=)
|
|
|
NM_000294.3(PHKG2):c.765C>T (p.Pro255=)
|
|
|
NM_000294.3(PHKG2):c.786C>T (p.Ser262=)
|
|
|
NM_000294.3(PHKG2):c.789T>C (p.Thr263=)
|
|
|
NM_000294.3(PHKG2):c.7C>T (p.Leu3=)
|
|
|
NM_000294.3(PHKG2):c.801+10G>T
|
|
|
NM_000294.3(PHKG2):c.801+11G>A
|
|
|
NM_000294.3(PHKG2):c.801+13T>C
|
|
|
NM_000294.3(PHKG2):c.801+14G>C
|
|
|
NM_000294.3(PHKG2):c.801+15A>G
|
|
|
NM_000294.3(PHKG2):c.801+17A>G
|
|
|
NM_000294.3(PHKG2):c.801+20del
|
|
|
NM_000294.3(PHKG2):c.801+7G>A
|
|
|
NM_000294.3(PHKG2):c.802-10T>G
|
|
|
NM_000294.3(PHKG2):c.802-11G>C
|
|
|
NM_000294.3(PHKG2):c.802-13G>T
|
|
|
NM_000294.3(PHKG2):c.802-16T>C
|
|
|
NM_000294.3(PHKG2):c.813G>A (p.Leu271=)
|
|
|
NM_000294.3(PHKG2):c.831G>A (p.Glu277=)
|
|
|
NM_000294.3(PHKG2):c.852G>A (p.Gln284=)
|
|
|
NM_000294.3(PHKG2):c.855C>A (p.Ala285=)
|
|
|
NM_000294.3(PHKG2):c.867C>G (p.Pro289=)
|
|
|
NM_000294.3(PHKG2):c.870C>T (p.Phe290=)
|
|
|
NM_000294.3(PHKG2):c.879T>C (p.Arg293=)
|
|
|
NM_000294.3(PHKG2):c.918G>A (p.Gln306=)
|
|
|
NM_000294.3(PHKG2):c.927+12T>C
|
|
|
NM_000294.3(PHKG2):c.927+13G>A
|
rs371298131
|
|
NM_000294.3(PHKG2):c.927+15A>G
|
|
|
NM_000294.3(PHKG2):c.927+15A>T
|
|
|
NM_000294.3(PHKG2):c.927+19G>T
|
|
|
NM_000294.3(PHKG2):c.927+7C>T
|
|
|
NM_000294.3(PHKG2):c.927+8T>C
|
|
|
NM_000294.3(PHKG2):c.928-12C>T
|
|
|
NM_000294.3(PHKG2):c.928-13C>A
|
|
|
NM_000294.3(PHKG2):c.928-13C>T
|
|
|
NM_000294.3(PHKG2):c.928-16C>T
|
|
|
NM_000294.3(PHKG2):c.928-20C>T
|
|
|
NM_000294.3(PHKG2):c.928-5C>G
|
|
|
NM_000294.3(PHKG2):c.928-8C>G
|
|
|
NM_000294.3(PHKG2):c.928-9C>A
|
|
|
NM_000294.3(PHKG2):c.948G>C (p.Leu316=)
|
|
|
NM_000294.3(PHKG2):c.95+12G>A
|
|
|
NM_000294.3(PHKG2):c.95+12G>T
|
|
|
NM_000294.3(PHKG2):c.95+15A>G
|
|
|
NM_000294.3(PHKG2):c.957A>G (p.Gly319=)
|
|
|
NM_000294.3(PHKG2):c.96-12C>T
|
|
|
NM_000294.3(PHKG2):c.96-14T>C
|
|
|
NM_000294.3(PHKG2):c.96-18A>G
|
|
|
NM_000294.3(PHKG2):c.96-7C>G
|
rs898984695
|
|
NM_000294.3(PHKG2):c.966C>T (p.Ala322=)
|
|
|
NM_000294.3(PHKG2):c.993G>A (p.Leu331=)
|
|
|
NM_000294.3(PHKG2):c.996C>T (p.Thr332=)
|
|
|
NM_000294.3(PHKG2):c.9G>A (p.Leu3=)
|
|
|
NM_000308.3(CTSA):c.6T>C (p.Thr2=)
|
|
|
NM_000308.4(CTSA):c.-1+10C>T
|
|
|
NM_000308.4(CTSA):c.-1+12C>T
|
|
|
NM_000308.4(CTSA):c.-1+13C>T
|
|
|
NM_000308.4(CTSA):c.-1+16A>G
|
|
|
NM_000308.4(CTSA):c.-1+18G>A
|
|
|
NM_000308.4(CTSA):c.-1+7T>C
|
|
|
NM_000308.4(CTSA):c.-1+7T>G
|
|
|
NM_000308.4(CTSA):c.-1+9G>A
|
|
|
NM_000308.4(CTSA):c.-10G>A
|
|
|
NM_000308.4(CTSA):c.-28T>C
|
|
|
NM_000308.4(CTSA):c.-31T>C
|
|
|
NM_000308.4(CTSA):c.-34G>A
|
|
|
NM_000308.4(CTSA):c.-34G>C
|
|
|
NM_000308.4(CTSA):c.-40C>T
|
|
|
NM_000308.4(CTSA):c.1-11G>A
|
|
|
NM_000308.4(CTSA):c.1-18C>G
|
|
|
NM_000308.4(CTSA):c.1-4G>A
|
|
|
NM_000308.4(CTSA):c.1-6C>T
|
|
|
NM_000308.4(CTSA):c.1-7C>G
|
|
|
NM_000308.4(CTSA):c.1008T>G (p.Ala336=)
|
|
|
NM_000308.4(CTSA):c.1011T>G (p.Ala337=)
|
|
|
NM_000308.4(CTSA):c.1032G>A (p.Pro344=)
|
|
|
NM_000308.4(CTSA):c.1032G>C (p.Pro344=)
|
|
|
NM_000308.4(CTSA):c.1035C>T (p.Tyr345=)
|
|
|
NM_000308.4(CTSA):c.1044G>A (p.Lys348=)
|
|
|
NM_000308.4(CTSA):c.1053C>T (p.Asn351=)
|
|
|
NM_000308.4(CTSA):c.1059G>C (p.Pro353=)
|
|
|
NM_000308.4(CTSA):c.1074A>G (p.Gln358=)
|
|
|
NM_000308.4(CTSA):c.1088+11G>A
|
|
|
NM_000308.4(CTSA):c.1088+16C>T
|
|
|
NM_000308.4(CTSA):c.1088+18C>T
|
|
|
NM_000308.4(CTSA):c.1088+8T>C
|
|
|
NM_000308.4(CTSA):c.1089-13A>G
|
|
|
NM_000308.4(CTSA):c.1089-15G>A
|
|
|
NM_000308.4(CTSA):c.1089-16C>G
|
|
|
NM_000308.4(CTSA):c.1089-16C>T
|
|
|
NM_000308.4(CTSA):c.1089-6C>T
|
|
|
NM_000308.4(CTSA):c.1089-8C>T
|
|
|
NM_000308.4(CTSA):c.1113C>A (p.Arg371=)
|
|
|
NM_000308.4(CTSA):c.111C>A (p.Arg37=)
|
|
|
NM_000308.4(CTSA):c.1122C>T (p.Tyr374=)
|
|
|
NM_000308.4(CTSA):c.1158C>T (p.Ser386=)
|
|
|
NM_000308.4(CTSA):c.1164+16A>G
|
|
|
NM_000308.4(CTSA):c.1164+9G>A
|
|
|
NM_000308.4(CTSA):c.1165-12A>G
|
|
|
NM_000308.4(CTSA):c.1165-14C>T
|
|
|
NM_000308.4(CTSA):c.1165-15C>A
|
|
|
NM_000308.4(CTSA):c.1165-19T>G
|
|
|
NM_000308.4(CTSA):c.1185T>C (p.Tyr395=)
|
|
|
NM_000308.4(CTSA):c.1194T>C (p.Asp398=)
|
|
|
NM_000308.4(CTSA):c.1197A>C (p.Val399=)
|
|
|
NM_000308.4(CTSA):c.1239T>C (p.Asp413=)
|
|
|
NM_000308.4(CTSA):c.1242C>T (p.Ser414=)
|
|
|
NM_000308.4(CTSA):c.1254+11G>C
|
|
|
NM_000308.4(CTSA):c.1254+15C>T
|
|
|
NM_000308.4(CTSA):c.1254+19G>A
|
|
|
NM_000308.4(CTSA):c.1254+8A>G
|
|
|
NM_000308.4(CTSA):c.1255-18T>C
|
|
|
NM_000308.4(CTSA):c.1255-4G>A
|
|
|
NM_000308.4(CTSA):c.1255-4G>C
|
|
|
NM_000308.4(CTSA):c.1263G>A (p.Val421=)
|
|
|
NM_000308.4(CTSA):c.1293G>A (p.Gly431=)
|
|
|
NM_000308.4(CTSA):c.1299C>T (p.Ser433=)
|
|
|
NM_000308.4(CTSA):c.1305G>A (p.Glu435=)
|
|
|
NM_000308.4(CTSA):c.1311T>C (p.Ile437=)
|
|
|
NM_000308.4(CTSA):c.1314C>T (p.Ala438=)
|
|
|
NM_000308.4(CTSA):c.1329G>A (p.Glu443=)
|
|
|
NM_000308.4(CTSA):c.1341C>A (p.Ile447=)
|
|
|
NM_000308.4(CTSA):c.1350C>G (p.Leu450=)
|
|
|
NM_000308.4(CTSA):c.1359+12del
|
|
|
NM_000308.4(CTSA):c.1359+19G>A
|
|
|
NM_000308.4(CTSA):c.1359+19G>T
|
|
|
NM_000308.4(CTSA):c.1360-13C>T
|
|
|
NM_000308.4(CTSA):c.1360-16G>A
|
|
|
NM_000308.4(CTSA):c.1360-16G>C
|
|
|
NM_000308.4(CTSA):c.1360-17C>G
|
|
|
NM_000308.4(CTSA):c.1360-17C>T
|
|
|
NM_000308.4(CTSA):c.1360-5C>T
|
|
|
NM_000308.4(CTSA):c.1360-7T>C
|
|
|
NM_000308.4(CTSA):c.1360-8C>A
|
|
|
NM_000308.4(CTSA):c.1360-9G>A
|
|
|
NM_000308.4(CTSA):c.1362C>T (p.Gly454=)
|
|
|
NM_000308.4(CTSA):c.1383C>G (p.Thr461=)
|
|
|
NM_000308.4(CTSA):c.1395C>T (p.Leu465=)
|
|
|
NM_000308.4(CTSA):c.1425G>C (p.Leu475=)
|
rs2083137493
|
|
NM_000308.4(CTSA):c.1428C>T (p.Asn476=)
|
|
|
NM_000308.4(CTSA):c.1440C>T (p.Tyr480=)
|
|
|
NM_000308.4(CTSA):c.15G>A (p.Ala5=)
|
|
|
NM_000308.4(CTSA):c.171C>A (p.Ser57=)
|
|
|
NM_000308.4(CTSA):c.171C>T (p.Ser57=)
|
|
|
NM_000308.4(CTSA):c.189C>T (p.His63=)
|
|
|
NM_000308.4(CTSA):c.18G>T (p.Pro6=)
|
|
|
NM_000308.4(CTSA):c.194+7C>T
|
|
|
NM_000308.4(CTSA):c.194+8G>T
|
|
|
NM_000308.4(CTSA):c.195-10C>T
|
|
|
NM_000308.4(CTSA):c.195-13A>T
|
|
|
NM_000308.4(CTSA):c.195-15T>C
|
|
|
NM_000308.4(CTSA):c.195-15_195-8del
|
|
|
NM_000308.4(CTSA):c.219C>T (p.Pro73=)
|
rs742035
|
|
NM_000308.4(CTSA):c.246C>A (p.Leu82=)
|
rs750478435
|
|
NM_000308.4(CTSA):c.258C>T (p.Pro86=)
|
|
|
NM_000308.4(CTSA):c.282C>T (p.Leu94=)
|
|
|
NM_000308.4(CTSA):c.294T>C (p.His98=)
|
|
|
NM_000308.4(CTSA):c.306+11A>C
|
|
|
NM_000308.4(CTSA):c.306+13C>G
|
|
|
NM_000308.4(CTSA):c.306+14A>G
|
|
|
NM_000308.4(CTSA):c.306+15G>A
|
|
|
NM_000308.4(CTSA):c.306+15G>C
|
|
|
NM_000308.4(CTSA):c.306+7G>C
|
|
|
NM_000308.4(CTSA):c.307-13C>G
|
|
|
NM_000308.4(CTSA):c.307-17A>G
|
|
|
NM_000308.4(CTSA):c.307-20G>A
|
|
|
NM_000308.4(CTSA):c.307-6C>T
|
|
|
NM_000308.4(CTSA):c.307-7T>C
|
|
|
NM_000308.4(CTSA):c.309C>T (p.Val103=)
|
|
|
NM_000308.4(CTSA):c.321T>C (p.Gly107=)
|
|
|
NM_000308.4(CTSA):c.357+10del
|
|
|
NM_000308.4(CTSA):c.357+13C>G
|
|
|
NM_000308.4(CTSA):c.357+19G>A
|
|
|
NM_000308.4(CTSA):c.358-11C>T
|
|
|
NM_000308.4(CTSA):c.358-20A>C
|
|
|
NM_000308.4(CTSA):c.358-4_358-3del
|
|
|
NM_000308.4(CTSA):c.358-5T>C
|
|
|
NM_000308.4(CTSA):c.358-8C>A
|
|
|
NM_000308.4(CTSA):c.366T>C (p.Asn122=)
|
|
|
NM_000308.4(CTSA):c.378G>C (p.Leu126=)
|
|
|
NM_000308.4(CTSA):c.381G>A (p.Glu127=)
|
|
|
NM_000308.4(CTSA):c.387A>C (p.Pro129=)
|
|
|
NM_000308.4(CTSA):c.411C>T (p.Ser137=)
|
|
|
NM_000308.4(CTSA):c.426T>C (p.Tyr142=)
|
|
|
NM_000308.4(CTSA):c.42G>T (p.Leu14=)
|
|
|
NM_000308.4(CTSA):c.432T>G (p.Thr144=)
|
|
|
NM_000308.4(CTSA):c.444+10del
|
|
|
NM_000308.4(CTSA):c.444+15T>C
|
|
|
NM_000308.4(CTSA):c.444+7C>A
|
|
|
NM_000308.4(CTSA):c.445-10C>G
|
|
|
NM_000308.4(CTSA):c.445-10C>T
|
|
|
NM_000308.4(CTSA):c.445-14T>C
|
|
|
NM_000308.4(CTSA):c.445-4C>T
|
|
|
NM_000308.4(CTSA):c.445-7T>C
|
|
|
NM_000308.4(CTSA):c.447C>T (p.Val149=)
|
|
|
NM_000308.4(CTSA):c.471T>A (p.Leu157=)
|
|
|
NM_000308.4(CTSA):c.474A>G (p.Gln158=)
|
|
|
NM_000308.4(CTSA):c.480C>T (p.Phe160=)
|
|
|
NM_000308.4(CTSA):c.489C>T (p.Leu163=)
|
|
|
NM_000308.4(CTSA):c.507C>T (p.Asn169=)
|
|
|
NM_000308.4(CTSA):c.510C>T (p.Asn170=)
|
|
|
NM_000308.4(CTSA):c.516T>G (p.Leu172=)
|
|
|
NM_000308.4(CTSA):c.522G>T (p.Leu174=)
|
|
|
NM_000308.4(CTSA):c.52C>T (p.Leu18=)
|
|
|
NM_000308.4(CTSA):c.549C>T (p.Tyr183=)
|
|
|
NM_000308.4(CTSA):c.54G>C (p.Leu18=)
|
rs181943893
|
|
NM_000308.4(CTSA):c.54G>T (p.Leu18=)
|
rs181943893
|
|
NM_000308.4(CTSA):c.558C>G (p.Thr186=)
|
|
|
NM_000308.4(CTSA):c.558C>T (p.Thr186=)
|
|
|
NM_000308.4(CTSA):c.568C>T (p.Leu190=)
|
rs2145816049
|
|
NM_000308.4(CTSA):c.570G>A (p.Leu190=)
|
|
|
NM_000308.4(CTSA):c.57A>G (p.Leu19=)
|
|
|
NM_000308.4(CTSA):c.594C>T (p.Asn198=)
|
|
|
NM_000308.4(CTSA):c.600+13T>C
|
|
|
NM_000308.4(CTSA):c.600+14_600+15insGG
|
rs2145816155
|
|
NM_000308.4(CTSA):c.600+15C>T
|
rs2145816162
|
|
NM_000308.4(CTSA):c.601-4A>C
|
|
|
NM_000308.4(CTSA):c.601-4A>G
|
|
|
NM_000308.4(CTSA):c.601-5C>G
|
|
|
NM_000308.4(CTSA):c.601-5C>T
|
|
|
NM_000308.4(CTSA):c.601-8T>C
|
|
|
NM_000308.4(CTSA):c.60G>A (p.Val20=)
|
|
|
NM_000308.4(CTSA):c.618T>C (p.Asn206=)
|
|
|
NM_000308.4(CTSA):c.621A>G (p.Gly207=)
|
|
|
NM_000308.4(CTSA):c.630C>G (p.Ser210=)
|
|
|
NM_000308.4(CTSA):c.648C>T (p.Asn216=)
|
|
|
NM_000308.4(CTSA):c.669C>T (p.Tyr223=)
|
|
|
NM_000308.4(CTSA):c.678C>T (p.Gly226=)
|
|
|
NM_000308.4(CTSA):c.692+17T>C
|
|
|
NM_000308.4(CTSA):c.692+20G>A
|
|
|
NM_000308.4(CTSA):c.692+9T>C
|
|
|
NM_000308.4(CTSA):c.693-14C>G
|
|
|
NM_000308.4(CTSA):c.693-14C>T
|
|
|
NM_000308.4(CTSA):c.693-18C>T
|
|
|
NM_000308.4(CTSA):c.693-20T>C
|
|
|
NM_000308.4(CTSA):c.693-7_693-5del
|
|
|
NM_000308.4(CTSA):c.69G>T (p.Ala23=)
|
|
|
NM_000308.4(CTSA):c.6C>A (p.Ile2=)
|
|
|
NM_000308.4(CTSA):c.708C>A (p.Leu236=)
|
|
|
NM_000308.4(CTSA):c.708C>G (p.Leu236=)
|
|
|
NM_000308.4(CTSA):c.717C>T (p.His239=)
|
|
|
NM_000308.4(CTSA):c.726T>C (p.Ser242=)
|
|
|
NM_000308.4(CTSA):c.729A>G (p.Gln243=)
|
|
|
NM_000308.4(CTSA):c.741C>T (p.Asn247=)
|
rs1231031573
|
|
NM_000308.4(CTSA):c.768C>T (p.Cys256=)
|
|
|
NM_000308.4(CTSA):c.777+11G>A
|
rs2145818040
|
|
NM_000308.4(CTSA):c.777+12C>T
|
|
|
NM_000308.4(CTSA):c.777+9C>T
|
|
|
NM_000308.4(CTSA):c.778-17T>C
|
|
|
NM_000308.4(CTSA):c.778-18C>T
|
|
|
NM_000308.4(CTSA):c.778-19G>A
|
|
|
NM_000308.4(CTSA):c.778-8C>G
|
|
|
NM_000308.4(CTSA):c.786A>G (p.Glu262=)
|
|
|
NM_000308.4(CTSA):c.789G>T (p.Val263=)
|
|
|
NM_000308.4(CTSA):c.792C>G (p.Ala264=)
|
|
|
NM_000308.4(CTSA):c.798C>T (p.Ile266=)
|
|
|
NM_000308.4(CTSA):c.804C>G (p.Gly268=)
|
|
|
NM_000308.4(CTSA):c.816C>T (p.Leu272=)
|
|
|
NM_000308.4(CTSA):c.819C>T (p.Asn273=)
|
|
|
NM_000308.4(CTSA):c.855G>A (p.Val285=)
|
|
|
NM_000308.4(CTSA):c.869+12T>C
|
|
|
NM_000308.4(CTSA):c.869+18C>G
|
|
|
NM_000308.4(CTSA):c.869+19C>T
|
|
|
NM_000308.4(CTSA):c.870-10C>G
|
|
|
NM_000308.4(CTSA):c.870-15C>A
|
|
|
NM_000308.4(CTSA):c.870-19C>T
|
|
|
NM_000308.4(CTSA):c.870-6T>C
|
|
|
NM_000308.4(CTSA):c.870-7A>G
|
|
|
NM_000308.4(CTSA):c.870-8C>A
|
|
|
NM_000308.4(CTSA):c.882C>T (p.Asp294=)
|
|
|
NM_000308.4(CTSA):c.885T>C (p.Thr295=)
|
rs143206710
|
|
NM_000308.4(CTSA):c.948+12C>T
|
|
|
NM_000308.4(CTSA):c.948+13G>A
|
|
|
NM_000308.4(CTSA):c.948+17G>A
|
|
|
NM_000308.4(CTSA):c.949-11G>T
|
|
|
NM_000308.4(CTSA):c.949-13C>T
|
|
|
NM_000308.4(CTSA):c.949-16T>C
|
|
|
NM_000308.4(CTSA):c.949-18A>C
|
|
|
NM_000308.4(CTSA):c.951A>G (p.Ala317=)
|
|
|
NM_000308.4(CTSA):c.954G>A (p.Leu318=)
|
|
|
NM_000308.4(CTSA):c.960C>T (p.Arg320=)
|
rs1987169608
|
|
NM_000308.4(CTSA):c.963A>G (p.Ser321=)
|
|
|
NM_000308.4(CTSA):c.966G>C (p.Gly322=)
|
|
|
NM_000308.4(CTSA):c.975G>A (p.Val325=)
|
|
|
NM_000308.4(CTSA):c.999C>T (p.Asn333=)
|
|
|
NM_000340.2(SLC2A2):c.1068+15T>G
|
|
|
NM_000340.2(SLC2A2):c.1068+7C>T
|
|
|
NM_000340.2(SLC2A2):c.108+16A>G
|
|
|
NM_000340.2(SLC2A2):c.1158A>T (p.Gly386=)
|
|
|
NM_000340.2(SLC2A2):c.1161T>C (p.Leu387=)
|
|
|
NM_000340.2(SLC2A2):c.1194T>C (p.Tyr398=)
|
|
|
NM_000340.2(SLC2A2):c.1254C>T (p.Ile418=)
|
|
|
NM_000340.2(SLC2A2):c.1275G>A (p.Glu425=)
|
|
|
NM_000340.2(SLC2A2):c.1329T>C (p.Asn443=)
|
|
|
NM_000340.2(SLC2A2):c.1362C>T (p.Phe454=)
|
|
|
NM_000340.2(SLC2A2):c.1374+7A>G
|
|
|
NM_000340.2(SLC2A2):c.1432C>T (p.Leu478=)
|
|
|
NM_000340.2(SLC2A2):c.1440A>G (p.Thr480=)
|
|
|
NM_000340.2(SLC2A2):c.1470G>A (p.Lys490=)
|
|
|
NM_000340.2(SLC2A2):c.1506G>A (p.Lys502=)
|
|
|
NM_000340.2(SLC2A2):c.16-12C>T
|
|
|
NM_000340.2(SLC2A2):c.16-20C>G
|
|
|
NM_000340.2(SLC2A2):c.267T>A (p.Ala89=)
|
|
|
NM_000340.2(SLC2A2):c.315A>G (p.Ala105=)
|
|
|
NM_000340.2(SLC2A2):c.372-20del
|
|
|
NM_000340.2(SLC2A2):c.492T>C (p.Tyr164=)
|
|
|
NM_000340.2(SLC2A2):c.496+7_496+8insCTCA
|
rs746295534
|
|
NM_000340.2(SLC2A2):c.496+7_496+8insCTCACACA
|
|
|
NM_000340.2(SLC2A2):c.496+7_496+8insCTCACACACA
|
rs746295534
|
|
NM_000340.2(SLC2A2):c.496+7_496+8insCTCACACACACACACACA
|
|
|
NM_000340.2(SLC2A2):c.576T>C (p.His192=)
|
|
|
NM_000340.2(SLC2A2):c.593C>A (p.Thr198Lys)
|
rs149460434
|
|
NM_000340.2(SLC2A2):c.593C>T (p.Thr198Met)
|
rs149460434
|
|
NM_000340.2(SLC2A2):c.594G>C (p.Thr198=)
|
|
|
NM_000340.2(SLC2A2):c.609T>C (p.Ser203=)
|
|
|
NM_000340.2(SLC2A2):c.612+7del
|
|
|
NM_000340.2(SLC2A2):c.613-7T>C
|
|
|
NM_000340.2(SLC2A2):c.748T>C (p.Leu250=)
|
|
|
NM_000340.2(SLC2A2):c.753T>C (p.Asp251=)
|
|
|
NM_000340.2(SLC2A2):c.775+19T>C
|
|
|
NM_000340.2(SLC2A2):c.776-8T>C
|
|
|
NM_000340.2(SLC2A2):c.963+20C>T
|
|
|
NM_000340.2(SLC2A2):c.964-15G>A
|
|
|
NM_000340.2(SLC2A2):c.996G>A (p.Thr332=)
|
|
|
NM_000343.4(SLC5A1):c.1002C>T (p.Ile334=)
|
|
|
NM_000343.4(SLC5A1):c.1008C>T (p.Arg336=)
|
|
|
NM_000343.4(SLC5A1):c.1021+15T>G
|
|
|
NM_000343.4(SLC5A1):c.1022-7T>C
|
|
|
NM_000343.4(SLC5A1):c.102C>T (p.Ile34=)
|
|
|
NM_000343.4(SLC5A1):c.1035T>C (p.Cys345=)
|
|
|
NM_000343.4(SLC5A1):c.1038C>T (p.Val346=)
|
|
|
NM_000343.4(SLC5A1):c.1089C>T (p.Asn363=)
|
|
|
NM_000343.4(SLC5A1):c.1129+23_1129+26del
|
rs2149492876
|
|
NM_000343.4(SLC5A1):c.114A>G (p.Val38=)
|
rs2149481673
|
|
NM_000343.4(SLC5A1):c.1179C>T (p.Ser393=)
|
|
|
NM_000343.4(SLC5A1):c.1182G>A (p.Leu394=)
|
|
|
NM_000343.4(SLC5A1):c.1185C>T (p.Thr395=)
|
|
|
NM_000343.4(SLC5A1):c.1191C>T (p.Ile397=)
|
|
|
NM_000343.4(SLC5A1):c.1203C>T (p.Ala401=)
|
|
|
NM_000343.4(SLC5A1):c.1233C>G (p.Ala411=)
|
|
|
NM_000343.4(SLC5A1):c.1236G>A (p.Lys412=)
|
|
|
NM_000343.4(SLC5A1):c.123C>T (p.Ala41=)
|
|
|
NM_000343.4(SLC5A1):c.126C>T (p.Val42=)
|
|
|
NM_000343.4(SLC5A1):c.1280+7G>T
|
|
|
NM_000343.4(SLC5A1):c.1281-8_1281-4dup
|
|
|
NM_000343.4(SLC5A1):c.135+10G>A
|
|
|
NM_000343.4(SLC5A1):c.135+14T>G
|
|
|
NM_000343.4(SLC5A1):c.135+16T>G
|
|
|
NM_000343.4(SLC5A1):c.135+9C>T
|
|
|
NM_000343.4(SLC5A1):c.136-17dup
|
rs2093943077
|
|
NM_000343.4(SLC5A1):c.1404G>C (p.Ala468=)
|
|
|
NM_000343.4(SLC5A1):c.1449+14G>A
|
|
|
NM_000343.4(SLC5A1):c.1450-18C>T
|
|
|
NM_000343.4(SLC5A1):c.1450-5del
|
|
|
NM_000343.4(SLC5A1):c.1471C>T (p.Leu491=)
|
|
|
NM_000343.4(SLC5A1):c.1506T>C (p.Thr502=)
|
|
|
NM_000343.4(SLC5A1):c.1518T>C (p.Tyr506=)
|
|
|
NM_000343.4(SLC5A1):c.153T>C (p.Asn51=)
|
rs2149483365
|
|
NM_000343.4(SLC5A1):c.1542C>T (p.Pro514=)
|
rs2149497542
|
|
NM_000343.4(SLC5A1):c.1557G>C (p.Thr519=)
|
|
|
NM_000343.4(SLC5A1):c.1581G>A (p.Leu527=)
|
|
|
NM_000343.4(SLC5A1):c.1605C>A (p.Ala535=)
|
rs1185265550
|
|
NM_000343.4(SLC5A1):c.1623C>T (p.Ile541=)
|
|
|
NM_000343.4(SLC5A1):c.162T>C (p.Thr54=)
|
|
|
NM_000343.4(SLC5A1):c.1656G>A (p.Pro552=)
|
|
|
NM_000343.4(SLC5A1):c.1665+19G>C
|
|
|
NM_000343.4(SLC5A1):c.1666-10T>C
|
|
|
NM_000343.4(SLC5A1):c.1666-13G>A
|
|
|
NM_000343.4(SLC5A1):c.1666-20C>G
|
|
|
NM_000343.4(SLC5A1):c.1674T>C (p.Arg558=)
|
|
|
NM_000343.4(SLC5A1):c.1689G>A (p.Leu563=)
|
|
|
NM_000343.4(SLC5A1):c.1692C>T (p.Arg564=)
|
|
|
NM_000343.4(SLC5A1):c.171C>T (p.Gly57=)
|
|
|
NM_000343.4(SLC5A1):c.1771+14C>G
|
|
|
NM_000343.4(SLC5A1):c.1771+20A>G
|
|
|
NM_000343.4(SLC5A1):c.1772-14A>G
|
|
|
NM_000343.4(SLC5A1):c.1833G>A (p.Gly611=)
|
|
|
NM_000343.4(SLC5A1):c.1845C>T (p.His615=)
|
|
|
NM_000343.4(SLC5A1):c.1872G>A (p.Glu624=)
|
|
|
NM_000343.4(SLC5A1):c.1920G>A (p.Leu640=)
|
rs1326329755
|
|
NM_000343.4(SLC5A1):c.1941C>T (p.Val647=)
|
|
|
NM_000343.4(SLC5A1):c.1956G>C (p.Leu652=)
|
|
|
NM_000343.4(SLC5A1):c.1962C>T (p.Thr654=)
|
|
|
NM_000343.4(SLC5A1):c.207+19G>C
|
|
|
NM_000343.4(SLC5A1):c.208-13T>C
|
|
|
NM_000343.4(SLC5A1):c.208-16T>C
|
|
|
NM_000343.4(SLC5A1):c.208-20A>C
|
|
|
NM_000343.4(SLC5A1):c.208-9C>T
|
|
|
NM_000343.4(SLC5A1):c.216C>T (p.Ala72=)
|
rs2149487752
|
|
NM_000343.4(SLC5A1):c.231T>C (p.Ser77=)
|
|
|
NM_000343.4(SLC5A1):c.246C>T (p.Gly82=)
|
|
|
NM_000343.4(SLC5A1):c.264C>T (p.Ala88=)
|
|
|
NM_000343.4(SLC5A1):c.312+17C>A
|
rs2149487784
|
|
NM_000343.4(SLC5A1):c.312+18C>A
|
|
|
NM_000343.4(SLC5A1):c.312+19A>G
|
|
|
NM_000343.4(SLC5A1):c.330T>G (p.Val110=)
|
|
|
NM_000343.4(SLC5A1):c.336G>A (p.Leu112=)
|
|
|
NM_000343.4(SLC5A1):c.33C>T (p.Thr11=)
|
|
|
NM_000343.4(SLC5A1):c.357C>T (p.Ile119=)
|
|
|
NM_000343.4(SLC5A1):c.369T>C (p.Ala123=)
|
rs1569304938
|
|
NM_000343.4(SLC5A1):c.36G>C (p.Ala12=)
|
rs148720069
|
|
NM_000343.4(SLC5A1):c.372+15T>G
|
|
|
NM_000343.4(SLC5A1):c.372+7_372+8del
|
rs1374768105
|
|
NM_000343.4(SLC5A1):c.372+8T>G
|
rs1443237221
|
|
NM_000343.4(SLC5A1):c.373-7del
|
rs778194598
|
|
NM_000343.4(SLC5A1):c.373-8C>T
|
|
|
NM_000343.4(SLC5A1):c.420G>A (p.Arg140=)
|
|
|
NM_000343.4(SLC5A1):c.429C>T (p.Val143=)
|
|
|
NM_000343.4(SLC5A1):c.447C>G (p.Ser149=)
|
rs771248492
|
|
NM_000343.4(SLC5A1):c.474C>A (p.Ile158=)
|
|
|
NM_000343.4(SLC5A1):c.477+15C>T
|
|
|
NM_000343.4(SLC5A1):c.478-13C>T
|
|
|
NM_000343.4(SLC5A1):c.478-15C>G
|
|
|
NM_000343.4(SLC5A1):c.478-15C>T
|
|
|
NM_000343.4(SLC5A1):c.478-16T>C
|
|
|
NM_000343.4(SLC5A1):c.478-19G>A
|
|
|
NM_000343.4(SLC5A1):c.478-7dup
|
rs33982670
|
|
NM_000343.4(SLC5A1):c.492G>T (p.Ser164=)
|
|
|
NM_000343.4(SLC5A1):c.519A>G (p.Leu173=)
|
|
|
NM_000343.4(SLC5A1):c.531G>A (p.Leu177=)
|
|
|
NM_000343.4(SLC5A1):c.54G>A (p.Glu18=)
|
|
|
NM_000343.4(SLC5A1):c.573C>T (p.Tyr191=)
|
|
|
NM_000343.4(SLC5A1):c.584-19T>C
|
|
|
NM_000343.4(SLC5A1):c.584-4T>A
|
|
|
NM_000343.4(SLC5A1):c.584-5C>T
|
|
|
NM_000343.4(SLC5A1):c.584-6G>A
|
rs200525887
|
|
NM_000343.4(SLC5A1):c.594G>A (p.Ala198=)
|
rs184213779
|
|
NM_000343.4(SLC5A1):c.597G>A (p.Ala199=)
|
|
|
NM_000343.4(SLC5A1):c.600G>C (p.Val200=)
|
|
|
NM_000343.4(SLC5A1):c.652C>T (p.Leu218=)
|
|
|
NM_000343.4(SLC5A1):c.665-12G>A
|
|
|
NM_000343.4(SLC5A1):c.665-13C>T
|
|
|
NM_000343.4(SLC5A1):c.672C>T (p.His224=)
|
|
|
NM_000343.4(SLC5A1):c.690C>T (p.Asp230=)
|
|
|
NM_000343.4(SLC5A1):c.708C>T (p.Tyr236=)
|
|
|
NM_000343.4(SLC5A1):c.75T>C (p.Asn25=)
|
|
|
NM_000343.4(SLC5A1):c.862T>C (p.Leu288=)
|
|
|
NM_000343.4(SLC5A1):c.885+16G>A
|
|
|
NM_000343.4(SLC5A1):c.885+19C>G
|
rs200815762
|
|
NM_000343.4(SLC5A1):c.885+19C>T
|
|
|
NM_000343.4(SLC5A1):c.915G>A (p.Lys305=)
|
|
|
NM_000343.4(SLC5A1):c.942C>T (p.Cys314=)
|
|
|
NM_000343.4(SLC5A1):c.948G>A (p.Leu316=)
|
|
|
NM_000343.4(SLC5A1):c.951T>C (p.Cys317=)
|
rs2149492454
|
|
NM_000343.4(SLC5A1):c.963G>A (p.Lys321=)
|
|
|
NM_000343.4(SLC5A1):c.987G>T (p.Val329=)
|
|
|
NM_000343.4(SLC5A1):c.993A>G (p.Pro331=)
|
|
|
NM_000404.4(GLB1):c.1008A>G (p.Pro336=)
|
rs2125514081
|
|
NM_000404.4(GLB1):c.1011G>C (p.Leu337=)
|
|
|
NM_000404.4(GLB1):c.1017G>A (p.Glu339=)
|
rs2125514070
|
|
NM_000404.4(GLB1):c.1020T>C (p.Ala340=)
|
rs2125514062
|
|
NM_000404.4(GLB1):c.1038G>A (p.Lys346=)
|
|
|
NM_000404.4(GLB1):c.1047T>A (p.Ala349=)
|
|
|
NM_000404.4(GLB1):c.1056C>T (p.Asn352=)
|
|
|
NM_000404.4(GLB1):c.105C>T (p.Asp35=)
|
rs2125553920
|
|
NM_000404.4(GLB1):c.1062C>T (p.Ile354=)
|
rs1698730626
|
|
NM_000404.4(GLB1):c.1068+14A>G
|
|
|
NM_000404.4(GLB1):c.1068+18G>A
|
|
|
NM_000404.4(GLB1):c.1068+18G>C
|
|
|
NM_000404.4(GLB1):c.1068+18G>T
|
|
|
NM_000404.4(GLB1):c.1068+20T>C
|
rs2125513973
|
|
NM_000404.4(GLB1):c.1069-17T>G
|
|
|
NM_000404.4(GLB1):c.1069-19T>C
|
|
|
NM_000404.4(GLB1):c.1069-20T>C
|
|
|
NM_000404.4(GLB1):c.1069-8G>A
|
|
|
NM_000404.4(GLB1):c.1069-8G>T
|
rs570577258
|
|
NM_000404.4(GLB1):c.1074A>G (p.Glu358=)
|
rs2125479142
|
|
NM_000404.4(GLB1):c.1083A>G (p.Pro361=)
|
|
|
NM_000404.4(GLB1):c.1086A>G (p.Glu362=)
|
rs2125479069
|
|
NM_000404.4(GLB1):c.1110A>C (p.Pro370=)
|
|
|
NM_000404.4(GLB1):c.1113G>A (p.Lys371=)
|
|
|
NM_000404.4(GLB1):c.1119A>T (p.Ala373=)
|
|
|
NM_000404.4(GLB1):c.1143+11A>G
|
|
|
NM_000404.4(GLB1):c.1143+15del
|
|
|
NM_000404.4(GLB1):c.1143+16A>T
|
|
|
NM_000404.4(GLB1):c.1143+20_1143+21del
|
|
|
NM_000404.4(GLB1):c.1144-12G>A
|
|
|
NM_000404.4(GLB1):c.1144-18G>C
|
|
|
NM_000404.4(GLB1):c.1144-4T>C
|
|
|
NM_000404.4(GLB1):c.1144-8C>G
|
rs1575417836
|
|
NM_000404.4(GLB1):c.1146A>G (p.Leu382=)
|
rs893134596
|
|
NM_000404.4(GLB1):c.114G>A (p.Arg38=)
|
|
|
NM_000404.4(GLB1):c.1169A>G (p.Asp390Gly)
|
|
|
NM_000404.4(GLB1):c.1176G>C (p.Leu392=)
|
|
|
NM_000404.4(GLB1):c.1176G>T (p.Leu392=)
|
|
|
NM_000404.4(GLB1):c.1215A>C (p.Thr405=)
|
rs1159059066
|
|
NM_000404.4(GLB1):c.1215A>G (p.Thr405=)
|
rs1159059066
|
|
NM_000404.4(GLB1):c.1224G>A (p.Gln408=)
|
|
|
NM_000404.4(GLB1):c.1233+10del
|
|
|
NM_000404.4(GLB1):c.1233+12A>G
|
|
|
NM_000404.4(GLB1):c.1233+13A>C
|
|
|
NM_000404.4(GLB1):c.1233+15del
|
|
|
NM_000404.4(GLB1):c.1233+19T>C
|
|
|
NM_000404.4(GLB1):c.1234-13C>A
|
|
|
NM_000404.4(GLB1):c.1234-13C>G
|
|
|
NM_000404.4(GLB1):c.1234-19T>A
|
|
|
NM_000404.4(GLB1):c.1234-20T>G
|
|
|
NM_000404.4(GLB1):c.1234-8C>T
|
|
|
NM_000404.4(GLB1):c.123C>T (p.Phe41=)
|
rs1559411842
|
|
NM_000404.4(GLB1):c.1254C>T (p.Tyr418=)
|
|
|
NM_000404.4(GLB1):c.1263A>C (p.Thr421=)
|
|
|
NM_000404.4(GLB1):c.1263A>G (p.Thr421=)
|
rs2125470039
|
|
NM_000404.4(GLB1):c.126C>A (p.Leu42=)
|
|
|
NM_000404.4(GLB1):c.126C>G (p.Leu42=)
|
rs1226161672
|
|
NM_000404.4(GLB1):c.126C>T (p.Leu42=)
|
|
|
NM_000404.4(GLB1):c.1293T>C (p.Pro431=)
|
rs535594294
|
|
NM_000404.4(GLB1):c.12C>T (p.Phe4=)
|
|
|
NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser)
|
rs202237232
|
|
NM_000404.4(GLB1):c.1311T>C (p.Asn437=)
|
|
|
NM_000404.4(GLB1):c.1314A>C (p.Gly438=)
|
|
|
NM_000404.4(GLB1):c.1314A>G (p.Gly438=)
|
|
|
NM_000404.4(GLB1):c.1317C>T (p.Val439=)
|
|
|
NM_000404.4(GLB1):c.1329A>T (p.Ala443=)
|
|
|
NM_000404.4(GLB1):c.132T>C (p.Asp44=)
|
rs2125553864
|
|
NM_000404.4(GLB1):c.1338T>C (p.Ala446=)
|
|
|
NM_000404.4(GLB1):c.1347+13T>G
|
|
|
NM_000404.4(GLB1):c.1347+14C>T
|
|
|
NM_000404.4(GLB1):c.1347+18A>C
|
|
|
NM_000404.4(GLB1):c.1347+19C>T
|
|
|
NM_000404.4(GLB1):c.1347+20T>C
|
|
|
NM_000404.4(GLB1):c.1347+7A>G
|
|
|
NM_000404.4(GLB1):c.1347+9C>A
|
|
|
NM_000404.4(GLB1):c.1348-16del
|
|
|
NM_000404.4(GLB1):c.1348-7C>G
|
|
|
NM_000404.4(GLB1):c.1350C>T (p.Ile450=)
|
|
|
NM_000404.4(GLB1):c.1368G>A (p.Glu456=)
|
rs1163359484
|
|
NM_000404.4(GLB1):c.1377T>C (p.Asn459=)
|
rs557275388
|
|
NM_000404.4(GLB1):c.1380G>A (p.Val460=)
|
|
|
NM_000404.4(GLB1):c.1389G>T (p.Leu463=)
|
|
|
NM_000404.4(GLB1):c.138G>A (p.Gln46=)
|
rs2125553849
|
|
NM_000404.4(GLB1):c.1416T>A (p.Thr472=)
|
|
|
NM_000404.4(GLB1):c.1449G>T (p.Val483=)
|
rs2125466973
|
|
NM_000404.4(GLB1):c.1455T>C (p.Tyr485=)
|
|
|
NM_000404.4(GLB1):c.1467C>A (p.Ile489=)
|
|
|
NM_000404.4(GLB1):c.1479+13A>G
|
|
|
NM_000404.4(GLB1):c.1479+17T>C
|
|
|
NM_000404.4(GLB1):c.1479+19T>C
|
|
|
NM_000404.4(GLB1):c.1479+20C>G
|
|
|
NM_000404.4(GLB1):c.1479+7C>T
|
|
|
NM_000404.4(GLB1):c.1480-12T>G
|
|
|
NM_000404.4(GLB1):c.1480-16T>C
|
|
|
NM_000404.4(GLB1):c.1480-9G>A
|
rs2125463527
|
|
NM_000404.4(GLB1):c.1495C>T (p.Leu499=)
|
rs2125463485
|
|
NM_000404.4(GLB1):c.1500T>G (p.Thr500=)
|
|
|
NM_000404.4(GLB1):c.150C>T (p.Tyr50=)
|
rs2125553832
|
|
NM_000404.4(GLB1):c.1512T>C (p.Asn504=)
|
rs981899210
|
|
NM_000404.4(GLB1):c.1515C>T (p.Ile505=)
|
rs2125463459
|
|
NM_000404.4(GLB1):c.1518C>G (p.Leu506=)
|
rs748176346
|
|
NM_000404.4(GLB1):c.1545C>T (p.Asp515=)
|
rs2125463395
|
|
NM_000404.4(GLB1):c.1557A>G (p.Ala519=)
|
|
|
NM_000404.4(GLB1):c.1566C>T (p.Ser522=)
|
rs1697148439
|
|
NM_000404.4(GLB1):c.1570C>T (p.Leu524=)
|
|
|
NM_000404.4(GLB1):c.1584A>G (p.Gly528=)
|
|
|
NM_000404.4(GLB1):c.1593_1594inv (p.Ser532Gly)
|
|
|
NM_000404.4(GLB1):c.1599C>A (p.Gly533=)
|
|
|
NM_000404.4(GLB1):c.15G>T (p.Leu5=)
|
rs755578948
|
|
NM_000404.4(GLB1):c.1602C>T (p.His534=)
|
|
|
NM_000404.4(GLB1):c.1605T>C (p.His535=)
|
rs1697144237
|
|
NM_000404.4(GLB1):c.1620C>T (p.Ala540=)
|
rs1697142798
|
|
NM_000404.4(GLB1):c.1635C>T (p.Asn545=)
|
|
|
NM_000404.4(GLB1):c.1641G>T (p.Thr547=)
|
|
|
NM_000404.4(GLB1):c.1644C>T (p.Leu548=)
|
rs761482093
|
|
NM_000404.4(GLB1):c.1647G>C (p.Pro549=)
|
|
|
NM_000404.4(GLB1):c.1650C>G (p.Ala550=)
|
rs2125463119
|
|
NM_000404.4(GLB1):c.1653T>C (p.Phe551=)
|
|
|
NM_000404.4(GLB1):c.1656T>C (p.Tyr552=)
|
rs2125463110
|
|
NM_000404.4(GLB1):c.165T>C (p.Ile55=)
|
|
|
NM_000404.4(GLB1):c.1662G>A (p.Gly554=)
|
|
|
NM_000404.4(GLB1):c.1662G>T (p.Gly554=)
|
|
|
NM_000404.4(GLB1):c.1665C>T (p.Asn555=)
|
rs55974537
|
|
NM_000404.4(GLB1):c.1680T>C (p.Ser560=)
|
|
|
NM_000404.4(GLB1):c.1689A>G (p.Pro563=)
|
|
|
NM_000404.4(GLB1):c.1692C>T (p.Asp564=)
|
|
|
NM_000404.4(GLB1):c.1698C>T (p.Pro566=)
|
rs1051472577
|
|
NM_000404.4(GLB1):c.1701G>A (p.Gln567=)
|
rs2125463030
|
|
NM_000404.4(GLB1):c.1704C>T (p.Asp568=)
|
rs2125463027
|
|
NM_000404.4(GLB1):c.1707C>T (p.Thr569=)
|
|
|
NM_000404.4(GLB1):c.1716G>A (p.Gln572=)
|
|
|
NM_000404.4(GLB1):c.1725A>G (p.Gly575=)
|
|
|
NM_000404.4(GLB1):c.1725A>T (p.Gly575=)
|
|
|
NM_000404.4(GLB1):c.1734+13A>G
|
|
|
NM_000404.4(GLB1):c.1734+13A>T
|
|
|
NM_000404.4(GLB1):c.1734+14T>C
|
|
|
NM_000404.4(GLB1):c.1735-10C>T
|
rs766907320
|
|
NM_000404.4(GLB1):c.1735-12C>G
|
|
|
NM_000404.4(GLB1):c.1735-15TC[4]
|
rs745361874
|
|
NM_000404.4(GLB1):c.1735-15TC[5]
|
rs745361874
|
|
NM_000404.4(GLB1):c.1735-15TC[7]
|
rs745361874
|
|
NM_000404.4(GLB1):c.1735-16G>C
|
rs1696353148
|
|
NM_000404.4(GLB1):c.1735-16_1735-9dup
|
rs1696352317
|
|
NM_000404.4(GLB1):c.1735-4C>G
|
rs1696352042
|
|
NM_000404.4(GLB1):c.1735-8C>G
|
|
|
NM_000404.4(GLB1):c.1735-8C>T
|
rs772741040
|
|
NM_000404.4(GLB1):c.174C>G (p.Ser58=)
|
|
|
NM_000404.4(GLB1):c.1752T>C (p.Asn584=)
|
rs2125442971
|
|
NM_000404.4(GLB1):c.1761C>T (p.Asn587=)
|
|
|
NM_000404.4(GLB1):c.1764T>C (p.Leu588=)
|
rs2125442941
|
|
NM_000404.4(GLB1):c.1785G>A (p.Arg595=)
|
rs2125442900
|
|
NM_000404.4(GLB1):c.1794G>A (p.Gln598=)
|
rs751382165
|
|
NM_000404.4(GLB1):c.1801T>C (p.Leu601=)
|
|
|
NM_000404.4(GLB1):c.1803G>A (p.Leu601=)
|
rs2125442880
|
|
NM_000404.4(GLB1):c.1812C>G (p.Pro604=)
|
rs765307992
|
|
NM_000404.4(GLB1):c.1812C>T (p.Pro604=)
|
|
|
NM_000404.4(GLB1):c.1821C>A (p.Ile607=)
|
rs959353985
|
|
NM_000404.4(GLB1):c.1833G>C (p.Ser611=)
|
rs201755284
|
|
NM_000404.4(GLB1):c.1842C>T (p.Asn614=)
|
|
|
NM_000404.4(GLB1):c.1854G>A (p.Val618=)
|
|
|
NM_000404.4(GLB1):c.1854G>C (p.Val618=)
|
|
|
NM_000404.4(GLB1):c.1855C>T (p.Leu619=)
|
|
|
NM_000404.4(GLB1):c.1899A>G (p.Leu633=)
|
|
|
NM_000404.4(GLB1):c.1899A>T (p.Leu633=)
|
|
|
NM_000404.4(GLB1):c.1905T>C (p.Ala635=)
|
|
|
NM_000404.4(GLB1):c.1911G>T (p.Thr637=)
|
|
|
NM_000404.4(GLB1):c.1917G>C (p.Val639=)
|
|
|
NM_000404.4(GLB1):c.192C>T (p.Tyr64=)
|
rs2125553741
|
|
NM_000404.4(GLB1):c.1935C>A (p.Gly645=)
|
rs1238912483
|
|
NM_000404.4(GLB1):c.1947C>T (p.Thr649=)
|
|
|
NM_000404.4(GLB1):c.1980A>G (p.Arg660=)
|
rs2125442653
|
|
NM_000404.4(GLB1):c.1989C>T (p.Pro663=)
|
rs1297904248
|
|
NM_000404.4(GLB1):c.1992A>C (p.Pro664=)
|
|
|
NM_000404.4(GLB1):c.1995C>G (p.Pro665=)
|
rs1300459240
|
|
NM_000404.4(GLB1):c.2016A>T (p.Ser672=)
|
|
|
NM_000404.4(GLB1):c.2022G>A (p.Leu674=)
|
|
|
NM_000404.4(GLB1):c.2028T>C (p.His676=)
|
rs753028572
|
|
NM_000404.4(GLB1):c.204G>T (p.Arg68=)
|
rs1309516618
|
|
NM_000404.4(GLB1):c.210G>A (p.Leu70=)
|
|
|
NM_000404.4(GLB1):c.228G>A (p.Gly76=)
|
|
|
NM_000404.4(GLB1):c.228G>C (p.Gly76=)
|
rs1279874417
|
|
NM_000404.4(GLB1):c.229C>T (p.Leu77=)
|
rs2125553699
|
|
NM_000404.4(GLB1):c.245+10A>T
|
|
|
NM_000404.4(GLB1):c.245+13G>A
|
|
|
NM_000404.4(GLB1):c.245+16T>C
|
|
|
NM_000404.4(GLB1):c.245+19G>A
|
|
|
NM_000404.4(GLB1):c.245+19G>T
|
|
|
NM_000404.4(GLB1):c.246-10G>A
|
|
|
NM_000404.4(GLB1):c.246-10G>T
|
|
|
NM_000404.4(GLB1):c.246-11T>G
|
|
|
NM_000404.4(GLB1):c.246-13T>C
|
|
|
NM_000404.4(GLB1):c.246-16G>C
|
|
|
NM_000404.4(GLB1):c.246-18C>T
|
|
|
NM_000404.4(GLB1):c.246-20G>A
|
|
|
NM_000404.4(GLB1):c.246-20G>C
|
|
|
NM_000404.4(GLB1):c.261C>T (p.Asn87=)
|
|
|
NM_000404.4(GLB1):c.270G>A (p.Glu90=)
|
rs749743340
|
|
NM_000404.4(GLB1):c.279A>G (p.Pro93=)
|
|
|
NM_000404.4(GLB1):c.27C>G (p.Leu9=)
|
|
|
NM_000404.4(GLB1):c.315A>G (p.Glu105=)
|
rs994997539
|
|
NM_000404.4(GLB1):c.318T>C (p.Tyr106=)
|
|
|
NM_000404.4(GLB1):c.31C>T (p.Leu11=)
|
rs77988381
|
|
NM_000404.4(GLB1):c.321T>C (p.Phe107=)
|
|
|
NM_000404.4(GLB1):c.327G>C (p.Arg109=)
|
|
|
NM_000404.4(GLB1):c.33G>C (p.Leu11=)
|
|
|
NM_000404.4(GLB1):c.342G>A (p.Leu114=)
|
rs2125548706
|
|
NM_000404.4(GLB1):c.349C>T (p.Leu117=)
|
|
|
NM_000404.4(GLB1):c.360G>A (p.Leu120=)
|
rs1699791877
|
|
NM_000404.4(GLB1):c.363G>A (p.Arg121=)
|
|
|
NM_000404.4(GLB1):c.366C>G (p.Pro122=)
|
rs769972414
|
|
NM_000404.4(GLB1):c.378C>T (p.Ile126=)
|
|
|
NM_000404.4(GLB1):c.37C>T (p.Leu13=)
|
|
|
NM_000404.4(GLB1):c.384A>G (p.Ala128=)
|
|
|
NM_000404.4(GLB1):c.396+11C>G
|
|
|
NM_000404.4(GLB1):c.396+14G>T
|
|
|
NM_000404.4(GLB1):c.396+15A>G
|
|
|
NM_000404.4(GLB1):c.396+20G>A
|
|
|
NM_000404.4(GLB1):c.396+7G>T
|
|
|
NM_000404.4(GLB1):c.396+9G>A
|
|
|
NM_000404.4(GLB1):c.397-11C>T
|
|
|
NM_000404.4(GLB1):c.397-17T>C
|
|
|
NM_000404.4(GLB1):c.397-19C>T
|
|
|
NM_000404.4(GLB1):c.397-8T>C
|
|
|
NM_000404.4(GLB1):c.411T>C (p.Ala137=)
|
rs2125547891
|
|
NM_000404.4(GLB1):c.429G>A (p.Glu143=)
|
|
|
NM_000404.4(GLB1):c.42T>C (p.Val14=)
|
rs2125591563
|
|
NM_000404.4(GLB1):c.435T>C (p.Ile145=)
|
|
|
NM_000404.4(GLB1):c.447C>T (p.Ser149=)
|
|
|
NM_000404.4(GLB1):c.457+11dup
|
|
|
NM_000404.4(GLB1):c.457+12C>A
|
|
|
NM_000404.4(GLB1):c.457+14G>A
|
|
|
NM_000404.4(GLB1):c.457+15A>G
|
|
|
NM_000404.4(GLB1):c.457+19C>T
|
|
|
NM_000404.4(GLB1):c.457+20T>C
|
|
|
NM_000404.4(GLB1):c.458-13T>C
|
|
|
NM_000404.4(GLB1):c.458-14T>A
|
|
|
NM_000404.4(GLB1):c.458-5T>C
|
|
|
NM_000404.4(GLB1):c.45G>C (p.Leu15=)
|
|
|
NM_000404.4(GLB1):c.462C>T (p.Tyr154=)
|
|
|
NM_000404.4(GLB1):c.486G>A (p.Leu162=)
|
rs2125543638
|
|
NM_000404.4(GLB1):c.492C>G (p.Val164=)
|
|
|
NM_000404.4(GLB1):c.504G>A (p.Lys168=)
|
|
|
NM_000404.4(GLB1):c.510G>A (p.Lys170=)
|
|
|
NM_000404.4(GLB1):c.516C>T (p.Leu172=)
|
|
|
NM_000404.4(GLB1):c.519C>G (p.Leu173=)
|
rs2125543586
|
|
NM_000404.4(GLB1):c.546A>G (p.Thr182=)
|
rs1161551535
|
|
NM_000404.4(GLB1):c.552+13T>A
|
|
|
NM_000404.4(GLB1):c.552+19A>G
|
|
|
NM_000404.4(GLB1):c.552+7C>G
|
|
|
NM_000404.4(GLB1):c.552+8T>C
|
rs1373621081
|
|
NM_000404.4(GLB1):c.553-20T>C
|
|
|
NM_000404.4(GLB1):c.558A>G (p.Glu186=)
|
|
|
NM_000404.4(GLB1):c.576C>T (p.Tyr192=)
|
|
|
NM_000404.4(GLB1):c.579T>C (p.Phe193=)
|
|
|
NM_000404.4(GLB1):c.597C>T (p.Tyr199=)
|
rs1404645663
|
|
NM_000404.4(GLB1):c.606C>T (p.Phe202=)
|
|
|
NM_000404.4(GLB1):c.621T>C (p.Phe207=)
|
|
|
NM_000404.4(GLB1):c.624C>T (p.Arg208=)
|
rs2125533076
|
|
NM_000404.4(GLB1):c.627C>T (p.His209=)
|
|
|
NM_000404.4(GLB1):c.631C>T (p.Leu211=)
|
|
|
NM_000404.4(GLB1):c.633G>A (p.Leu211=)
|
|
|
NM_000404.4(GLB1):c.639T>C (p.Asp213=)
|
|
|
NM_000404.4(GLB1):c.63G>A (p.Thr21=)
|
rs2125591533
|
|
NM_000404.4(GLB1):c.666A>G (p.Gly222=)
|
|
|
NM_000404.4(GLB1):c.678A>G (p.Thr226=)
|
rs543022319
|
|
NM_000404.4(GLB1):c.678A>T (p.Thr226=)
|
|
|
NM_000404.4(GLB1):c.693G>A (p.Gly231=)
|
|
|
NM_000404.4(GLB1):c.693G>C (p.Gly231=)
|
rs754493105
|
|
NM_000404.4(GLB1):c.696C>T (p.Ala232=)
|
|
|
NM_000404.4(GLB1):c.699G>T (p.Leu233=)
|
|
|
NM_000404.4(GLB1):c.69C>A (p.Gly23=)
|
rs780964758
|
|
NM_000404.4(GLB1):c.69C>G (p.Gly23=)
|
rs780964758
|
|
NM_000404.4(GLB1):c.6G>A (p.Pro2=)
|
|
|
NM_000404.4(GLB1):c.708C>T (p.Leu236=)
|
rs369299644
|
|
NM_000404.4(GLB1):c.70T>C (p.Leu24=)
|
|
|
NM_000404.4(GLB1):c.711C>T (p.Tyr237=)
|
rs757982518
|
|
NM_000404.4(GLB1):c.717G>T (p.Thr239=)
|
rs761692955
|
|
NM_000404.4(GLB1):c.729A>G (p.Gly243=)
|
|
|
NM_000404.4(GLB1):c.733+10T>C
|
|
|
NM_000404.4(GLB1):c.733+11G>A
|
|
|
NM_000404.4(GLB1):c.733+13A>T
|
|
|
NM_000404.4(GLB1):c.733+20G>A
|
|
|
NM_000404.4(GLB1):c.733+7G>A
|
rs2125532858
|
|
NM_000404.4(GLB1):c.734-10C>T
|
|
|
NM_000404.4(GLB1):c.734-11A>G
|
|
|
NM_000404.4(GLB1):c.734-11dup
|
|
|
NM_000404.4(GLB1):c.734-14C>G
|
|
|
NM_000404.4(GLB1):c.734-14C>T
|
|
|
NM_000404.4(GLB1):c.734-16C>T
|
|
|
NM_000404.4(GLB1):c.734-17C>T
|
|
|
NM_000404.4(GLB1):c.747A>T (p.Thr249=)
|
|
|
NM_000404.4(GLB1):c.750T>C (p.Asp250=)
|
|
|
NM_000404.4(GLB1):c.76-12C>A
|
|
|
NM_000404.4(GLB1):c.76-17C>T
|
|
|
NM_000404.4(GLB1):c.76-4G>A
|
rs2125553992
|
|
NM_000404.4(GLB1):c.76-5T>C
|
|
|
NM_000404.4(GLB1):c.76-9G>A
|
rs1340962080
|
|
NM_000404.4(GLB1):c.76-9G>T
|
|
|
NM_000404.4(GLB1):c.76-9_76-8delinsAA
|
rs2125553998
|
|
NM_000404.4(GLB1):c.768G>A (p.Arg256=)
|
|
|
NM_000404.4(GLB1):c.771G>A (p.Lys257=)
|
|
|
NM_000404.4(GLB1):c.780C>T (p.Pro260=)
|
|
|
NM_000404.4(GLB1):c.786A>C (p.Gly262=)
|
|
|
NM_000404.4(GLB1):c.789C>G (p.Pro263=)
|
rs1306950895
|
|
NM_000404.4(GLB1):c.789C>T (p.Pro263=)
|
rs1306950895
|
|
NM_000404.4(GLB1):c.78T>C (p.Asn26=)
|
rs2125553988
|
|
NM_000404.4(GLB1):c.792+10G>A
|
rs79518579
|
|
NM_000404.4(GLB1):c.792+10G>C
|
rs79518579
|
|
NM_000404.4(GLB1):c.792+16G>C
|
|
|
NM_000404.4(GLB1):c.792+9C>A
|
rs755373106
|
|
NM_000404.4(GLB1):c.792+9C>T
|
|
|
NM_000404.4(GLB1):c.793-13T>G
|
|
|
NM_000404.4(GLB1):c.793-18G>A
|
|
|
NM_000404.4(GLB1):c.793-20A>G
|
rs1231370554
|
|
NM_000404.4(GLB1):c.804A>G (p.Glu268=)
|
|
|
NM_000404.4(GLB1):c.813T>C (p.Thr271=)
|
rs2125523180
|
|
NM_000404.4(GLB1):c.81C>T (p.Ala27=)
|
|
|
NM_000404.4(GLB1):c.843C>T (p.His281=)
|
rs1486962222
|
|
NM_000404.4(GLB1):c.84C>T (p.Thr28=)
|
rs2125553969
|
|
NM_000404.4(GLB1):c.873C>T (p.Ser291=)
|
rs755951134
|
|
NM_000404.4(GLB1):c.876C>T (p.Ser292=)
|
rs1699010204
|
|
NM_000404.4(GLB1):c.879C>G (p.Leu293=)
|
|
|
NM_000404.4(GLB1):c.879C>T (p.Leu293=)
|
rs1445139978
|
|
NM_000404.4(GLB1):c.882T>C (p.Tyr294=)
|
|
|
NM_000404.4(GLB1):c.903G>A (p.Ala301=)
|
rs1182083485
|
|
NM_000404.4(GLB1):c.903G>T (p.Ala301=)
|
rs1182083485
|
|
NM_000404.4(GLB1):c.909G>A (p.Val303=)
|
rs1575451771
|
|
NM_000404.4(GLB1):c.912C>T (p.Asn304=)
|
rs2125523009
|
|
NM_000404.4(GLB1):c.914+15C>T
|
|
|
NM_000404.4(GLB1):c.914+17T>C
|
|
|
NM_000404.4(GLB1):c.914+18G>T
|
|
|
NM_000404.4(GLB1):c.914+7G>C
|
rs2125522998
|
|
NM_000404.4(GLB1):c.915-11T>G
|
|
|
NM_000404.4(GLB1):c.915-14T>C
|
|
|
NM_000404.4(GLB1):c.915-18T>C
|
|
|
NM_000404.4(GLB1):c.915-4G>A
|
rs1559401172
|
|
NM_000404.4(GLB1):c.915-8C>G
|
rs1003927822
|
|
NM_000404.4(GLB1):c.936C>A (p.Thr312=)
|
|
|
NM_000404.4(GLB1):c.936C>G (p.Thr312=)
|
|
|
NM_000404.4(GLB1):c.945C>T (p.Ala315=)
|
rs1405318301
|
|
NM_000404.4(GLB1):c.955+14A>C
|
|
|
NM_000404.4(GLB1):c.955+8C>T
|
rs757268704
|
|
NM_000404.4(GLB1):c.956-14T>C
|
|
|
NM_000404.4(GLB1):c.956-19G>A
|
|
|
NM_000404.4(GLB1):c.956-19G>T
|
|
|
NM_000404.4(GLB1):c.956-4C>A
|
|
|
NM_000404.4(GLB1):c.963C>T (p.Asn321=)
|
rs1698734997
|
|
NM_000404.4(GLB1):c.975A>G (p.Ala325=)
|
rs1380215832
|
|
NM_000404.4(GLB1):c.981G>A (p.Gln327=)
|
|
|
NM_000404.4(GLB1):c.987C>T (p.Thr329=)
|
rs777781037
|
|
NM_000404.4(GLB1):c.990C>T (p.Ser330=)
|
|
|
NM_000404.4(GLB1):c.9G>A (p.Gly3=)
|
rs1175346838
|
|
NM_000507.4(FBP1):c.1008T>C (p.Ser336=)
|
|
|
NM_000507.4(FBP1):c.120A>G (p.Thr40=)
|
|
|
NM_000507.4(FBP1):c.138T>C (p.Ser46=)
|
|
|
NM_000507.4(FBP1):c.144G>A (p.Ala48=)
|
|
|
NM_000507.4(FBP1):c.144G>T (p.Ala48=)
|
|
|
NM_000507.4(FBP1):c.156G>C (p.Ala52=)
|
|
|
NM_000507.4(FBP1):c.168C>T (p.His56=)
|
|
|
NM_000507.4(FBP1):c.170+18C>T
|
|
|
NM_000507.4(FBP1):c.170+19G>T
|
|
|
NM_000507.4(FBP1):c.170+7C>T
|
|
|
NM_000507.4(FBP1):c.170+9G>A
|
|
|
NM_000507.4(FBP1):c.171-11G>A
|
|
|
NM_000507.4(FBP1):c.171-11G>T
|
|
|
NM_000507.4(FBP1):c.171-17G>T
|
|
|
NM_000507.4(FBP1):c.171-20G>A
|
|
|
NM_000507.4(FBP1):c.171-4G>A
|
|
|
NM_000507.4(FBP1):c.171-6C>T
|
rs930280429
|
|
NM_000507.4(FBP1):c.183T>C (p.Ala61=)
|
|
|
NM_000507.4(FBP1):c.186T>C (p.Gly62=)
|
|
|
NM_000507.4(FBP1):c.216G>A (p.Lys72=)
|
|
|
NM_000507.4(FBP1):c.222G>C (p.Leu74=)
|
|
|
NM_000507.4(FBP1):c.225C>T (p.Asp75=)
|
|
|
NM_000507.4(FBP1):c.228C>T (p.Val76=)
|
|
|
NM_000507.4(FBP1):c.276G>A (p.Thr92=)
|
|
|
NM_000507.4(FBP1):c.27G>C (p.Thr9=)
|
|
|
NM_000507.4(FBP1):c.285C>T (p.Leu95=)
|
|
|
NM_000507.4(FBP1):c.288G>A (p.Val96=)
|
|
|
NM_000507.4(FBP1):c.288G>T (p.Val96=)
|
|
|
NM_000507.4(FBP1):c.30C>T (p.Asp10=)
|
|
|
NM_000507.4(FBP1):c.312C>A (p.Ile104=)
|
|
|
NM_000507.4(FBP1):c.312C>T (p.Ile104=)
|
|
|
NM_000507.4(FBP1):c.333+15C>T
|
|
|
NM_000507.4(FBP1):c.333+16C>G
|
|
|
NM_000507.4(FBP1):c.333+16C>T
|
|
|
NM_000507.4(FBP1):c.333+17A>G
|
|
|
NM_000507.4(FBP1):c.333+8T>C
|
|
|
NM_000507.4(FBP1):c.334-12T>C
|
|
|
NM_000507.4(FBP1):c.334-17C>T
|
|
|
NM_000507.4(FBP1):c.334-5C>G
|
|
|
NM_000507.4(FBP1):c.342T>C (p.Tyr114=)
|
|
|
NM_000507.4(FBP1):c.360C>G (p.Pro120=)
|
|
|
NM_000507.4(FBP1):c.366T>C (p.Asp122=)
|
|
|
NM_000507.4(FBP1):c.369A>C (p.Gly123=)
|
|
|
NM_000507.4(FBP1):c.381C>T (p.Ile127=)
|
|
|
NM_000507.4(FBP1):c.390T>C (p.Leu130=)
|
|
|
NM_000507.4(FBP1):c.396C>A (p.Ser132=)
|
|
|
NM_000507.4(FBP1):c.396C>T (p.Ser132=)
|
|
|
NM_000507.4(FBP1):c.39C>A (p.Thr13=)
|
|
|
NM_000507.4(FBP1):c.39C>T (p.Thr13=)
|
|
|
NM_000507.4(FBP1):c.405C>T (p.Thr135=)
|
|
|
NM_000507.4(FBP1):c.420T>C (p.Tyr140=)
|
|
|
NM_000507.4(FBP1):c.426+12T>C
|
|
|
NM_000507.4(FBP1):c.426+14T>A
|
|
|
NM_000507.4(FBP1):c.426+14T>C
|
|
|
NM_000507.4(FBP1):c.426+20G>A
|
|
|
NM_000507.4(FBP1):c.426+7_426+23del
|
|
|
NM_000507.4(FBP1):c.426+8G>A
|
|
|
NM_000507.4(FBP1):c.427-15TCTT[3]
|
|
|
NM_000507.4(FBP1):c.42G>A (p.Leu14=)
|
|
|
NM_000507.4(FBP1):c.435T>A (p.Thr145=)
|
|
|
NM_000507.4(FBP1):c.450G>A (p.Glu150=)
|
|
|
NM_000507.4(FBP1):c.456T>C (p.Asp152=)
|
|
|
NM_000507.4(FBP1):c.468A>G (p.Pro156=)
|
|
|
NM_000507.4(FBP1):c.472C>A (p.Arg158=)
|
|
|
NM_000507.4(FBP1):c.474G>C (p.Arg158=)
|
rs764960075
|
|
NM_000507.4(FBP1):c.477C>T (p.Asn159=)
|
|
|
NM_000507.4(FBP1):c.489C>T (p.Ala163=)
|
|
|
NM_000507.4(FBP1):c.498A>C (p.Ala166=)
|
rs778151034
|
|
NM_000507.4(FBP1):c.501G>A (p.Leu167=)
|
|
|
NM_000507.4(FBP1):c.504T>C (p.Tyr168=)
|
|
|
NM_000507.4(FBP1):c.520C>T (p.Leu174=)
|
|
|
NM_000507.4(FBP1):c.559C>T (p.Leu187=)
|
|
|
NM_000507.4(FBP1):c.567+15A>G
|
|
|
NM_000507.4(FBP1):c.567+9C>A
|
|
|
NM_000507.4(FBP1):c.568-13C>T
|
|
|
NM_000507.4(FBP1):c.573C>T (p.Ile191=)
|
|
|
NM_000507.4(FBP1):c.576G>A (p.Gly192=)
|
|
|
NM_000507.4(FBP1):c.586T>C (p.Leu196=)
|
|
|
NM_000507.4(FBP1):c.597G>A (p.Lys199=)
|
|
|
NM_000507.4(FBP1):c.630C>T (p.Tyr210=)
|
|
|
NM_000507.4(FBP1):c.633C>T (p.Ser211=)
|
|
|
NM_000507.4(FBP1):c.63G>A (p.Glu21=)
|
|
|
NM_000507.4(FBP1):c.648C>T (p.Tyr216=)
|
|
|
NM_000507.4(FBP1):c.663C>T (p.Asp221=)
|
rs772690496
|
|
NM_000507.4(FBP1):c.669C>T (p.Ala223=)
|
|
|
NM_000507.4(FBP1):c.66C>G (p.Gly22=)
|
|
|
NM_000507.4(FBP1):c.672C>T (p.Val224=)
|
|
|
NM_000507.4(FBP1):c.705+14C>G
|
|
|
NM_000507.4(FBP1):c.705+15G>A
|
|
|
NM_000507.4(FBP1):c.705+16G>C
|
|
|
NM_000507.4(FBP1):c.705+20G>A
|
|
|
NM_000507.4(FBP1):c.705+9G>C
|
|
|
NM_000507.4(FBP1):c.706-10T>C
|
|
|
NM_000507.4(FBP1):c.706-11T>A
|
|
|
NM_000507.4(FBP1):c.706-12C>G
|
|
|
NM_000507.4(FBP1):c.706-4G>A
|
|
|
NM_000507.4(FBP1):c.706-9A>C
|
|
|
NM_000507.4(FBP1):c.729C>T (p.Ala243=)
|
|
|
NM_000507.4(FBP1):c.741C>T (p.Gly247=)
|
|
|
NM_000507.4(FBP1):c.762T>C (p.His254=)
|
|
|
NM_000507.4(FBP1):c.801T>C (p.Ala267=)
|
|
|
NM_000507.4(FBP1):c.81C>T (p.Gly27=)
|
|
|
NM_000507.4(FBP1):c.825+11C>T
|
|
|
NM_000507.4(FBP1):c.825+7G>T
|
|
|
NM_000507.4(FBP1):c.826-12C>T
|
|
|
NM_000507.4(FBP1):c.826-15G>T
|
rs148942437
|
|
NM_000507.4(FBP1):c.826-16C>T
|
|
|
NM_000507.4(FBP1):c.826-17C>A
|
|
|
NM_000507.4(FBP1):c.826-7T>C
|
rs1827646865
|
|
NM_000507.4(FBP1):c.835C>T (p.Leu279=)
|
rs760291471
|
|
NM_000507.4(FBP1):c.837G>A (p.Leu279=)
|
|
|
NM_000507.4(FBP1):c.846C>T (p.Cys282=)
|
|
|
NM_000507.4(FBP1):c.849C>T (p.Asn283=)
|
|
|
NM_000507.4(FBP1):c.84G>C (p.Thr28=)
|
|
|
NM_000507.4(FBP1):c.861C>T (p.Tyr287=)
|
|
|
NM_000507.4(FBP1):c.87C>A (p.Gly29=)
|
|
|
NM_000507.4(FBP1):c.894T>C (p.Thr298=)
|
|
|
NM_000507.4(FBP1):c.900G>A (p.Lys300=)
|
|
|
NM_000507.4(FBP1):c.903G>A (p.Glu301=)
|
|
|
NM_000507.4(FBP1):c.91T>C (p.Leu31=)
|
|
|
NM_000507.4(FBP1):c.945G>A (p.Ala315=)
|
|
|
NM_000507.4(FBP1):c.948G>A (p.Pro316=)
|
|
|
NM_000507.4(FBP1):c.951G>T (p.Val317=)
|
|
|
NM_000507.4(FBP1):c.957G>A (p.Leu319=)
|
|
|
NM_000507.4(FBP1):c.966C>T (p.Pro322=)
|
|
|
NM_000507.4(FBP1):c.969C>T (p.Asp323=)
|
|
|
NM_000507.4(FBP1):c.96C>A (p.Thr32=)
|
|
|
NM_000507.4(FBP1):c.972C>T (p.Asp324=)
|
|
|
NM_000507.4(FBP1):c.978C>G (p.Leu326=)
|
|
|
NM_000507.4(FBP1):c.981G>A (p.Glu327=)
|
|
|
NM_000507.4(FBP1):c.984C>T (p.Phe328=)
|
|
|
NM_000512.5(GALNS):c.1002+16C>G
|
|
|
NM_000512.5(GALNS):c.1002+16C>T
|
|
|
NM_000512.5(GALNS):c.1002+19G>C
|
|
|
NM_000512.5(GALNS):c.1002+19G>T
|
|
|
NM_000512.5(GALNS):c.1002+7C>G
|
|
|
NM_000512.5(GALNS):c.1002+8A>G
|
|
|
NM_000512.5(GALNS):c.1003-16C>T
|
|
|
NM_000512.5(GALNS):c.100C>T (p.Leu34=)
|
|
|
NM_000512.5(GALNS):c.1011C>T (p.His337=)
|
|
|
NM_000512.5(GALNS):c.102G>C (p.Leu34=)
|
|
|
NM_000512.5(GALNS):c.102G>T (p.Leu34=)
|
|
|
NM_000512.5(GALNS):c.1035C>T (p.Leu345=)
|
|
|
NM_000512.5(GALNS):c.1038C>T (p.Phe346=)
|
|
|
NM_000512.5(GALNS):c.1050G>C (p.Leu350=)
|
|
|
NM_000512.5(GALNS):c.105C>A (p.Leu35=)
|
|
|
NM_000512.5(GALNS):c.105C>G (p.Leu35=)
|
|
|
NM_000512.5(GALNS):c.1068G>A (p.Thr356=)
|
|
|
NM_000512.5(GALNS):c.1071G>T (p.Pro357=)
|
rs374619390
|
|
NM_000512.5(GALNS):c.1077C>T (p.Ser359=)
|
|
|
NM_000512.5(GALNS):c.1083G>A (p.Arg361=)
|
rs2142995796
|
|
NM_000512.5(GALNS):c.1086C>T (p.Ala362=)
|
rs2142995793
|
|
NM_000512.5(GALNS):c.1095C>T (p.Gly365=)
|
|
|
NM_000512.5(GALNS):c.1101C>T (p.Asn367=)
|
|
|
NM_000512.5(GALNS):c.1104C>A (p.Leu368=)
|
|
|
NM_000512.5(GALNS):c.1104C>T (p.Leu368=)
|
rs1322856128
|
|
NM_000512.5(GALNS):c.1110C>T (p.Pro370=)
|
|
|
NM_000512.5(GALNS):c.1113C>G (p.Thr371=)
|
|
|
NM_000512.5(GALNS):c.1113C>T (p.Thr371=)
|
rs375098009
|
|
NM_000512.5(GALNS):c.1119G>C (p.Leu373=)
|
|
|
NM_000512.5(GALNS):c.111C>T (p.Leu37=)
|
|
|
NM_000512.5(GALNS):c.1122G>A (p.Gln374=)
|
|
|
NM_000512.5(GALNS):c.1139+14C>T
|
|
|
NM_000512.5(GALNS):c.1139+18C>A
|
|
|
NM_000512.5(GALNS):c.1140-10C>G
|
|
|
NM_000512.5(GALNS):c.1140-14C>T
|
|
|
NM_000512.5(GALNS):c.1140-15C>T
|
rs1910644710
|
|
NM_000512.5(GALNS):c.1140-20C>T
|
|
|
NM_000512.5(GALNS):c.1140-5C>T
|
rs1181279151
|
|
NM_000512.5(GALNS):c.1146C>T (p.Ile382=)
|
|
|
NM_000512.5(GALNS):c.1164C>T (p.Asp388=)
|
|
|
NM_000512.5(GALNS):c.1167G>A (p.Thr389=)
|
|
|
NM_000512.5(GALNS):c.1176_1177delinsAT (p.Ala393Ser)
|
rs2142993851
|
|
NM_000512.5(GALNS):c.1185C>T (p.Leu395=)
|
|
|
NM_000512.5(GALNS):c.120+12C>G
|
|
|
NM_000512.5(GALNS):c.120+12C>T
|
|
|
NM_000512.5(GALNS):c.120+13G>C
|
|
|
NM_000512.5(GALNS):c.120+13G>T
|
|
|
NM_000512.5(GALNS):c.120+19A>C
|
|
|
NM_000512.5(GALNS):c.120+19_120+29del
|
|
|
NM_000512.5(GALNS):c.120+20C>T
|
|
|
NM_000512.5(GALNS):c.120+8C>G
|
|
|
NM_000512.5(GALNS):c.120+9G>T
|
|
|
NM_000512.5(GALNS):c.121-10T>C
|
|
|
NM_000512.5(GALNS):c.121-12T>C
|
|
|
NM_000512.5(GALNS):c.121-16G>A
|
|
|
NM_000512.5(GALNS):c.121-16G>C
|
|
|
NM_000512.5(GALNS):c.121-16G>T
|
rs113230137
|
|
NM_000512.5(GALNS):c.121-18C>A
|
|
|
NM_000512.5(GALNS):c.121-18C>G
|
|
|
NM_000512.5(GALNS):c.121-19C>T
|
|
|
NM_000512.5(GALNS):c.121-20C>T
|
|
|
NM_000512.5(GALNS):c.121-5T>C
|
|
|
NM_000512.5(GALNS):c.121-6C>T
|
|
|
NM_000512.5(GALNS):c.1242+10T>C
|
|
|
NM_000512.5(GALNS):c.1242+11C>T
|
|
|
NM_000512.5(GALNS):c.1242+12G>A
|
|
|
NM_000512.5(GALNS):c.1242+12G>C
|
|
|
NM_000512.5(GALNS):c.1242+13G>C
|
|
|
NM_000512.5(GALNS):c.1242+17G>T
|
|
|
NM_000512.5(GALNS):c.1242+18T>G
|
|
|
NM_000512.5(GALNS):c.1242+19G>T
|
|
|
NM_000512.5(GALNS):c.1242+20G>C
|
|
|
NM_000512.5(GALNS):c.1242+7G>C
|
|
|
NM_000512.5(GALNS):c.1242+8G>A
|
|
|
NM_000512.5(GALNS):c.1243-10C>T
|
|
|
NM_000512.5(GALNS):c.1243-17C>A
|
|
|
NM_000512.5(GALNS):c.1243-17C>T
|
|
|
NM_000512.5(GALNS):c.1243-4G>T
|
|
|
NM_000512.5(GALNS):c.1263G>A (p.Gly421=)
|
|
|
NM_000512.5(GALNS):c.1278G>A (p.Gly426=)
|
|
|
NM_000512.5(GALNS):c.1308G>A (p.Thr436=)
|
|
|
NM_000512.5(GALNS):c.1314G>A (p.Leu438=)
|
|
|
NM_000512.5(GALNS):c.1314G>C (p.Leu438=)
|
|
|
NM_000512.5(GALNS):c.1317C>T (p.Pro439=)
|
|
|
NM_000512.5(GALNS):c.1329C>T (p.His443=)
|
rs1411737981
|
|
NM_000512.5(GALNS):c.1335A>G (p.Gly445=)
|
rs2142992319
|
|
NM_000512.5(GALNS):c.1347G>A (p.Gly449=)
|
rs759760397
|
|
NM_000512.5(GALNS):c.1356C>T (p.Phe452=)
|
rs2142992304
|
|
NM_000512.5(GALNS):c.1359C>T (p.Pro453=)
|
|
|
NM_000512.5(GALNS):c.1364+11G>A
|
|
|
NM_000512.5(GALNS):c.1364+14G>C
|
rs1400572799
|
|
NM_000512.5(GALNS):c.1364+15G>C
|
|
|
NM_000512.5(GALNS):c.1364+17C>T
|
|
|
NM_000512.5(GALNS):c.1364+7C>T
|
|
|
NM_000512.5(GALNS):c.1365-10C>T
|
|
|
NM_000512.5(GALNS):c.1365-14CT[2]
|
|
|
NM_000512.5(GALNS):c.1365-17G>C
|
|
|
NM_000512.5(GALNS):c.1365-19C>T
|
|
|
NM_000512.5(GALNS):c.1365-20C>G
|
|
|
NM_000512.5(GALNS):c.1365-4C>G
|
rs558654277
|
|
NM_000512.5(GALNS):c.1365-9T>C
|
|
|
NM_000512.5(GALNS):c.1392C>A (p.Ala464=)
|
|
|
NM_000512.5(GALNS):c.1398C>T (p.Ser466=)
|
|
|
NM_000512.5(GALNS):c.1407C>G (p.Thr469=)
|
|
|
NM_000512.5(GALNS):c.1410G>A (p.Ser470=)
|
rs763263800
|
|
NM_000512.5(GALNS):c.1410G>C (p.Ser470=)
|
rs763263800
|
|
NM_000512.5(GALNS):c.1410G>T (p.Ser470=)
|
rs763263800
|
|
NM_000512.5(GALNS):c.141G>A (p.Gly47=)
|
|
|
NM_000512.5(GALNS):c.1422G>A (p.Gln474=)
|
|
|
NM_000512.5(GALNS):c.1434C>T (p.Ala478=)
|
|
|
NM_000512.5(GALNS):c.1440C>T (p.Val480=)
|
|
|
NM_000512.5(GALNS):c.1446G>A (p.Ala482=)
|
|
|
NM_000512.5(GALNS):c.144G>A (p.Val48=)
|
|
|
NM_000512.5(GALNS):c.1458C>T (p.Leu486=)
|
|
|
NM_000512.5(GALNS):c.1464G>A (p.Val488=)
|
|
|
NM_000512.5(GALNS):c.1467C>T (p.Cys489=)
|
|
|
NM_000512.5(GALNS):c.147T>C (p.Tyr49=)
|
|
|
NM_000512.5(GALNS):c.1482+9C>T
|
|
|
NM_000512.5(GALNS):c.1483-12T>C
|
|
|
NM_000512.5(GALNS):c.1483-13T>G
|
|
|
NM_000512.5(GALNS):c.1483-17C>T
|
|
|
NM_000512.5(GALNS):c.1483-19C>T
|
|
|
NM_000512.5(GALNS):c.1483-9A>G
|
|
|
NM_000512.5(GALNS):c.1497G>A (p.Pro499=)
|
|
|
NM_000512.5(GALNS):c.1509G>A (p.Lys503=)
|
|
|
NM_000512.5(GALNS):c.1510T>C (p.Leu504=)
|
|
|
NM_000512.5(GALNS):c.1522C>T (p.Leu508=)
|
|
|
NM_000512.5(GALNS):c.1527A>G (p.Thr509=)
|
|
|
NM_000512.5(GALNS):c.1536A>G (p.Glu512=)
|
|
|
NM_000512.5(GALNS):c.1557C>G (p.Leu519=)
|
|
|
NM_000512.5(GALNS):c.1563C>A (p.Ser521=)
|
|
|
NM_000512.5(GALNS):c.1563C>T (p.Ser521=)
|
|
|
NM_000512.5(GALNS):c.1566C>T (p.His522=)
|
|
|
NM_000512.5(GALNS):c.156C>G (p.Pro52=)
|
|
|
NM_000512.5(GALNS):c.159C>T (p.Ser53=)
|
|
|
NM_000512.5(GALNS):c.15C>A (p.Val5=)
|
|
|
NM_000512.5(GALNS):c.168C>A (p.Thr56=)
|
|
|
NM_000512.5(GALNS):c.171G>A (p.Pro57=)
|
|
|
NM_000512.5(GALNS):c.177G>A (p.Leu59=)
|
|
|
NM_000512.5(GALNS):c.18G>T (p.Ala6=)
|
|
|
NM_000512.5(GALNS):c.192A>C (p.Ala64=)
|
|
|
NM_000512.5(GALNS):c.210A>G (p.Pro70=)
|
|
|
NM_000512.5(GALNS):c.21G>A (p.Ala7=)
|
|
|
NM_000512.5(GALNS):c.21G>C (p.Ala7=)
|
|
|
NM_000512.5(GALNS):c.234G>A (p.Leu78=)
|
|
|
NM_000512.5(GALNS):c.240G>T (p.Ser80=)
|
|
|
NM_000512.5(GALNS):c.244+10C>T
|
|
|
NM_000512.5(GALNS):c.244+11G>A
|
|
|
NM_000512.5(GALNS):c.244+14G>T
|
|
|
NM_000512.5(GALNS):c.244+17C>T
|
|
|
NM_000512.5(GALNS):c.244+8A>G
|
|
|
NM_000512.5(GALNS):c.244+9G>C
|
|
|
NM_000512.5(GALNS):c.245-10C>G
|
|
|
NM_000512.5(GALNS):c.245-13C>T
|
|
|
NM_000512.5(GALNS):c.245-15G>A
|
|
|
NM_000512.5(GALNS):c.245-15G>C
|
|
|
NM_000512.5(GALNS):c.245-17C>T
|
|
|
NM_000512.5(GALNS):c.245-25TTCTGT[3]
|
|
|
NM_000512.5(GALNS):c.245-4A>G
|
|
|
NM_000512.5(GALNS):c.245-5C>T
|
|
|
NM_000512.5(GALNS):c.245-7C>T
|
|
|
NM_000512.5(GALNS):c.246G>A (p.Ser82=)
|
|
|
NM_000512.5(GALNS):c.24G>C (p.Thr8=)
|
|
|
NM_000512.5(GALNS):c.252G>C (p.Ala84=)
|
|
|
NM_000512.5(GALNS):c.258G>A (p.Leu86=)
|
|
|
NM_000512.5(GALNS):c.267A>C (p.Gly89=)
|
|
|
NM_000512.5(GALNS):c.288C>G (p.Gly96=)
|
|
|
NM_000512.5(GALNS):c.306C>T (p.Ala102=)
|
|
|
NM_000512.5(GALNS):c.309T>C (p.His103=)
|
|
|
NM_000512.5(GALNS):c.312C>G (p.Ala104=)
|
rs1293637427
|
|
NM_000512.5(GALNS):c.319+10_319+11dup
|
|
|
NM_000512.5(GALNS):c.319+14C>T
|
|
|
NM_000512.5(GALNS):c.319+15G>A
|
|
|
NM_000512.5(GALNS):c.319+15G>T
|
rs777179922
|
|
NM_000512.5(GALNS):c.319+16C>T
|
|
|
NM_000512.5(GALNS):c.320-14C>T
|
|
|
NM_000512.5(GALNS):c.320-18C>T
|
|
|
NM_000512.5(GALNS):c.320-7C>T
|
|
|
NM_000512.5(GALNS):c.320-9C>T
|
|
|
NM_000512.5(GALNS):c.330G>T (p.Pro110=)
|
|
|
NM_000512.5(GALNS):c.339T>C (p.Ile113=)
|
|
|
NM_000512.5(GALNS):c.345C>T (p.Gly115=)
|
|
|
NM_000512.5(GALNS):c.348C>T (p.Gly116=)
|
|
|
NM_000512.5(GALNS):c.363G>A (p.Glu121=)
|
|
|
NM_000512.5(GALNS):c.370C>T (p.Leu124=)
|
|
|
NM_000512.5(GALNS):c.375G>A (p.Pro125=)
|
|
|
NM_000512.5(GALNS):c.378G>A (p.Glu126=)
|
|
|
NM_000512.5(GALNS):c.384G>A (p.Leu128=)
|
|
|
NM_000512.5(GALNS):c.387G>A (p.Lys129=)
|
|
|
NM_000512.5(GALNS):c.411T>C (p.Ile137=)
|
|
|
NM_000512.5(GALNS):c.414C>G (p.Val138=)
|
|
|
NM_000512.5(GALNS):c.414C>T (p.Val138=)
|
|
|
NM_000512.5(GALNS):c.417C>G (p.Gly139=)
|
|
|
NM_000512.5(GALNS):c.420G>A (p.Lys140=)
|
|
|
NM_000512.5(GALNS):c.422+10C>T
|
|
|
NM_000512.5(GALNS):c.422+14C>T
|
|
|
NM_000512.5(GALNS):c.422+18G>A
|
|
|
NM_000512.5(GALNS):c.422+19C>G
|
|
|
NM_000512.5(GALNS):c.422+20C>T
|
|
|
NM_000512.5(GALNS):c.422+9C>G
|
|
|
NM_000512.5(GALNS):c.423-14G>A
|
|
|
NM_000512.5(GALNS):c.423-15G>C
|
|
|
NM_000512.5(GALNS):c.423-20T>C
|
|
|
NM_000512.5(GALNS):c.423-4C>T
|
|
|
NM_000512.5(GALNS):c.423-5del
|
|
|
NM_000512.5(GALNS):c.423-8G>A
|
|
|
NM_000512.5(GALNS):c.423-8G>C
|
rs111613055
|
|
NM_000512.5(GALNS):c.42G>A (p.Leu14=)
|
|
|
NM_000512.5(GALNS):c.447C>T (p.Phe149=)
|
|
|
NM_000512.5(GALNS):c.450C>T (p.His150=)
|
|
|
NM_000512.5(GALNS):c.45G>A (p.Leu15=)
|
|
|
NM_000512.5(GALNS):c.462C>T (p.His154=)
|
|
|
NM_000512.5(GALNS):c.465A>G (p.Gly155=)
|
|
|
NM_000512.5(GALNS):c.471T>C (p.Asp157=)
|
|
|
NM_000512.5(GALNS):c.480T>C (p.Phe160=)
|
|
|
NM_000512.5(GALNS):c.519G>A (p.Lys173=)
|
|
|
NM_000512.5(GALNS):c.540G>A (p.Val180=)
|
|
|
NM_000512.5(GALNS):c.544A>C (p.Arg182=)
|
|
|
NM_000512.5(GALNS):c.546G>A (p.Arg182=)
|
|
|
NM_000512.5(GALNS):c.555G>A (p.Glu185=)
|
|
|
NM_000512.5(GALNS):c.566+11C>T
|
|
|
NM_000512.5(GALNS):c.566+12C>T
|
|
|
NM_000512.5(GALNS):c.566+13C>T
|
|
|
NM_000512.5(GALNS):c.566+16C>G
|
|
|
NM_000512.5(GALNS):c.566+16C>T
|
|
|
NM_000512.5(GALNS):c.566+17C>T
|
|
|
NM_000512.5(GALNS):c.566+9G>A
|
|
|
NM_000512.5(GALNS):c.567-13G>A
|
|
|
NM_000512.5(GALNS):c.567-14T>C
|
|
|
NM_000512.5(GALNS):c.567-14T>G
|
|
|
NM_000512.5(GALNS):c.567-15C>T
|
|
|
NM_000512.5(GALNS):c.567-17A>G
|
|
|
NM_000512.5(GALNS):c.573T>C (p.Tyr191=)
|
|
|
NM_000512.5(GALNS):c.579A>G (p.Glu193=)
|
|
|
NM_000512.5(GALNS):c.592C>T (p.Leu198=)
|
|
|
NM_000512.5(GALNS):c.597G>A (p.Lys199=)
|
rs1293689169
|
|
NM_000512.5(GALNS):c.600G>A (p.Thr200=)
|
|
|
NM_000512.5(GALNS):c.600G>T (p.Thr200=)
|
|
|
NM_000512.5(GALNS):c.609C>A (p.Ala203=)
|
|
|
NM_000512.5(GALNS):c.609C>T (p.Ala203=)
|
|
|
NM_000512.5(GALNS):c.60G>A (p.Ala20=)
|
|
|
NM_000512.5(GALNS):c.612C>T (p.Asn204=)
|
|
|
NM_000512.5(GALNS):c.615C>A (p.Leu205=)
|
|
|
NM_000512.5(GALNS):c.618C>T (p.Thr206=)
|
|
|
NM_000512.5(GALNS):c.633+13G>A
|
|
|
NM_000512.5(GALNS):c.633+13G>T
|
|
|
NM_000512.5(GALNS):c.633+13dup
|
|
|
NM_000512.5(GALNS):c.633+15A>G
|
|
|
NM_000512.5(GALNS):c.633+16C>T
|
|
|
NM_000512.5(GALNS):c.634-14G>T
|
|
|
NM_000512.5(GALNS):c.639C>T (p.Ala213=)
|
|
|
NM_000512.5(GALNS):c.63G>T (p.Gly21=)
|
|
|
NM_000512.5(GALNS):c.654G>A (p.Lys218=)
|
|
|
NM_000512.5(GALNS):c.657A>G (p.Arg219=)
|
|
|
NM_000512.5(GALNS):c.666G>A (p.Arg222=)
|
|
|
NM_000512.5(GALNS):c.672C>T (p.His224=)
|
|
|
NM_000512.5(GALNS):c.678T>C (p.Phe226=)
|
|
|
NM_000512.5(GALNS):c.684C>T (p.Leu228=)
|
|
|
NM_000512.5(GALNS):c.693T>C (p.Ala231=)
|
|
|
NM_000512.5(GALNS):c.696C>T (p.Val232=)
|
|
|
NM_000512.5(GALNS):c.702C>T (p.Ala234=)
|
|
|
NM_000512.5(GALNS):c.705G>A (p.Thr235=)
|
|
|
NM_000512.5(GALNS):c.705G>T (p.Thr235=)
|
|
|
NM_000512.5(GALNS):c.714C>G (p.Pro238=)
|
|
|
NM_000512.5(GALNS):c.714C>T (p.Pro238=)
|
|
|
NM_000512.5(GALNS):c.717C>A (p.Val239=)
|
|
|
NM_000512.5(GALNS):c.723C>G (p.Ala241=)
|
|
|
NM_000512.5(GALNS):c.732C>G (p.Pro244=)
|
|
|
NM_000512.5(GALNS):c.744C>G (p.Thr248=)
|
|
|
NM_000512.5(GALNS):c.753A>T (p.Arg251=)
|
|
|
NM_000512.5(GALNS):c.758+12C>A
|
|
|
NM_000512.5(GALNS):c.758+15C>T
|
|
|
NM_000512.5(GALNS):c.758+17T>C
|
|
|
NM_000512.5(GALNS):c.758+7C>T
|
|
|
NM_000512.5(GALNS):c.759-15G>C
|
|
|
NM_000512.5(GALNS):c.759-7C>A
|
|
|
NM_000512.5(GALNS):c.75G>C (p.Ser25=)
|
|
|
NM_000512.5(GALNS):c.768C>T (p.Asp256=)
|
|
|
NM_000512.5(GALNS):c.777G>A (p.Arg259=)
|
|
|
NM_000512.5(GALNS):c.786T>C (p.Asp262=)
|
|
|
NM_000512.5(GALNS):c.81C>T (p.Ala27=)
|
|
|
NM_000512.5(GALNS):c.831C>T (p.Val277=)
|
|
|
NM_000512.5(GALNS):c.834G>A (p.Ala278=)
|
|
|
NM_000512.5(GALNS):c.84G>C (p.Pro28=)
|
|
|
NM_000512.5(GALNS):c.861G>A (p.Ser287=)
|
|
|
NM_000512.5(GALNS):c.867C>T (p.Asn289=)
|
|
|
NM_000512.5(GALNS):c.870C>T (p.Gly290=)
|
|
|
NM_000512.5(GALNS):c.87G>A (p.Gln29=)
|
|
|
NM_000512.5(GALNS):c.882T>A (p.Ile294=)
|
|
|
NM_000512.5(GALNS):c.888C>T (p.Ala296=)
|
|
|
NM_000512.5(GALNS):c.891C>T (p.Pro297=)
|
|
|
NM_000512.5(GALNS):c.898+11G>A
|
|
|
NM_000512.5(GALNS):c.898+12C>A
|
|
|
NM_000512.5(GALNS):c.898+13T>C
|
|
|
NM_000512.5(GALNS):c.898+7G>A
|
|
|
NM_000512.5(GALNS):c.898+8C>T
|
|
|
NM_000512.5(GALNS):c.899-12C>T
|
|
|
NM_000512.5(GALNS):c.899-14C>A
|
rs771269427
|
|
NM_000512.5(GALNS):c.899-169_899-166del
|
|
|
NM_000512.5(GALNS):c.899-19A>T
|
|
|
NM_000512.5(GALNS):c.899-20C>T
|
|
|
NM_000512.5(GALNS):c.899-5C>T
|
|
|
NM_000512.5(GALNS):c.899-9C>G
|
|
|
NM_000512.5(GALNS):c.90C>G (p.Pro30=)
|
rs1967938638
|
|
NM_000512.5(GALNS):c.912C>T (p.Gly304=)
|
|
|
NM_000512.5(GALNS):c.927G>A (p.Gly309=)
|
|
|
NM_000512.5(GALNS):c.930G>A (p.Lys310=)
|
|
|
NM_000512.5(GALNS):c.939G>A (p.Thr313=)
|
|
|
NM_000512.5(GALNS):c.969C>G (p.Leu323=)
|
|
|
NM_000512.5(GALNS):c.96C>T (p.Asn32=)
|
|
|
NM_000512.5(GALNS):c.972A>G (p.Ala324=)
|
|
|
NM_000512.5(GALNS):c.984G>A (p.Gly328=)
|
|
|
NM_000512.5(GALNS):c.9G>T (p.Ala3=)
|
|
|
NM_000528.4(MAN2B1):c.1005C>T (p.Leu335=)
|
|
|
NM_000528.4(MAN2B1):c.1012C>T (p.Leu338=)
|
|
|
NM_000528.4(MAN2B1):c.1023G>A (p.Ala341=)
|
rs755616565
|
|
NM_000528.4(MAN2B1):c.1026+10C>T
|
|
|
NM_000528.4(MAN2B1):c.1026+13A>C
|
|
|
NM_000528.4(MAN2B1):c.1026+14C>T
|
|
|
NM_000528.4(MAN2B1):c.1026+15C>A
|
|
|
NM_000528.4(MAN2B1):c.1026+17T>C
|
|
|
NM_000528.4(MAN2B1):c.1026+20G>A
|
|
|
NM_000528.4(MAN2B1):c.1027-12C>G
|
rs762668361
|
|
NM_000528.4(MAN2B1):c.1027-14G>A
|
|
|
NM_000528.4(MAN2B1):c.1027-15C>T
|
|
|
NM_000528.4(MAN2B1):c.1027-17G>A
|
|
|
NM_000528.4(MAN2B1):c.1027-18C>A
|
|
|
NM_000528.4(MAN2B1):c.1027-18C>G
|
|
|
NM_000528.4(MAN2B1):c.1027-18C>T
|
|
|
NM_000528.4(MAN2B1):c.1027-19C>G
|
|
|
NM_000528.4(MAN2B1):c.1027-20T>C
|
rs754654189
|
|
NM_000528.4(MAN2B1):c.1027-6C>T
|
|
|
NM_000528.4(MAN2B1):c.1027-7C>T
|
rs1454372793
|
|
NM_000528.4(MAN2B1):c.1027-9C>T
|
|
|
NM_000528.4(MAN2B1):c.1032A>G (p.Ala344=)
|
rs1386894008
|
|
NM_000528.4(MAN2B1):c.1035A>G (p.Lys345=)
|
|
|
NM_000528.4(MAN2B1):c.1047C>T (p.Val349=)
|
|
|
NM_000528.4(MAN2B1):c.1059C>T (p.Tyr353=)
|
rs200323310
|
|
NM_000528.4(MAN2B1):c.105C>G (p.Leu35=)
|
|
|
NM_000528.4(MAN2B1):c.1062C>T (p.Ser354=)
|
rs2145262172
|
|
NM_000528.4(MAN2B1):c.1065C>G (p.Thr355=)
|
|
|
NM_000528.4(MAN2B1):c.1068C>A (p.Pro356=)
|
rs117880912
|
|
NM_000528.4(MAN2B1):c.1068C>T (p.Pro356=)
|
rs117880912
|
|
NM_000528.4(MAN2B1):c.1071T>C (p.Ala357=)
|
|
|
NM_000528.4(MAN2B1):c.1104C>A (p.Leu368=)
|
rs372217078
|
|
NM_000528.4(MAN2B1):c.1104C>G (p.Leu368=)
|
|
|
NM_000528.4(MAN2B1):c.1104C>T (p.Leu368=)
|
|
|
NM_000528.4(MAN2B1):c.1109+13A>C
|
|
|
NM_000528.4(MAN2B1):c.1109+20A>T
|
|
|
NM_000528.4(MAN2B1):c.1109+8G>T
|
|
|
NM_000528.4(MAN2B1):c.1110-10G>A
|
|
|
NM_000528.4(MAN2B1):c.1110-13C>A
|
|
|
NM_000528.4(MAN2B1):c.1110-17T>C
|
|
|
NM_000528.4(MAN2B1):c.1110-17dup
|
|
|
NM_000528.4(MAN2B1):c.1110-4G>A
|
rs758041910
|
|
NM_000528.4(MAN2B1):c.1110-4G>T
|
rs758041910
|
|
NM_000528.4(MAN2B1):c.1110-5T>G
|
|
|
NM_000528.4(MAN2B1):c.1134C>T (p.Phe378=)
|
rs756124107
|
|
NM_000528.4(MAN2B1):c.1140C>T (p.Tyr380=)
|
rs767768982
|
|
NM_000528.4(MAN2B1):c.1149C>T (p.Gly383=)
|
|
|
NM_000528.4(MAN2B1):c.114C>T (p.Phe38=)
|
rs2024251453
|
|
NM_000528.4(MAN2B1):c.1155C>T (p.His385=)
|
rs2145261164
|
|
NM_000528.4(MAN2B1):c.1167C>G (p.Thr389=)
|
|
|
NM_000528.4(MAN2B1):c.1167C>T (p.Thr389=)
|
rs762375074
|
|
NM_000528.4(MAN2B1):c.1188G>C (p.Pro396=)
|
rs749011134
|
|
NM_000528.4(MAN2B1):c.1203C>T (p.Tyr401=)
|
|
|
NM_000528.4(MAN2B1):c.1206G>A (p.Glu402=)
|
rs1221988260
|
|
NM_000528.4(MAN2B1):c.1209C>T (p.Arg403=)
|
rs559827776
|
|
NM_000528.4(MAN2B1):c.121T>C (p.Leu41=)
|
|
|
NM_000528.4(MAN2B1):c.1230+13C>T
|
|
|
NM_000528.4(MAN2B1):c.1230+14G>A
|
|
|
NM_000528.4(MAN2B1):c.1230+14G>C
|
|
|
NM_000528.4(MAN2B1):c.1230+14G>T
|
|
|
NM_000528.4(MAN2B1):c.1230+15G>A
|
rs2024019027
|
|
NM_000528.4(MAN2B1):c.1230+16G>A
|
|
|
NM_000528.4(MAN2B1):c.1230+17C>T
|
|
|
NM_000528.4(MAN2B1):c.1230+20G>A
|
|
|
NM_000528.4(MAN2B1):c.1230+20G>C
|
|
|
NM_000528.4(MAN2B1):c.1230+7A>G
|
rs2024019411
|
|
NM_000528.4(MAN2B1):c.1231-13C>A
|
|
|
NM_000528.4(MAN2B1):c.1231-13C>G
|
|
|
NM_000528.4(MAN2B1):c.1231-17T>A
|
|
|
NM_000528.4(MAN2B1):c.1231-5T>A
|
rs1419185296
|
|
NM_000528.4(MAN2B1):c.1231-5T>C
|
|
|
NM_000528.4(MAN2B1):c.1231-5_1231-4dup
|
rs2145260260
|
|
NM_000528.4(MAN2B1):c.1231-6C>T
|
|
|
NM_000528.4(MAN2B1):c.1231-7C>T
|
rs2145260291
|
|
NM_000528.4(MAN2B1):c.1248G>A (p.Glu416=)
|
|
|
NM_000528.4(MAN2B1):c.1251G>A (p.Ala417=)
|
rs1055070863
|
|
NM_000528.4(MAN2B1):c.1252C>T (p.Leu418=)
|
rs2145260099
|
|
NM_000528.4(MAN2B1):c.1263G>A (p.Leu421=)
|
|
|
NM_000528.4(MAN2B1):c.1269C>T (p.Ala423=)
|
rs2145260034
|
|
NM_000528.4(MAN2B1):c.1272C>T (p.Asn424=)
|
rs768711346
|
|
NM_000528.4(MAN2B1):c.1278A>T (p.Gly426=)
|
rs950266158
|
|
NM_000528.4(MAN2B1):c.1287C>T (p.Gly429=)
|
|
|
NM_000528.4(MAN2B1):c.1302A>C (p.Ala434=)
|
rs2145259880
|
|
NM_000528.4(MAN2B1):c.1309+11G>T
|
|
|
NM_000528.4(MAN2B1):c.1309+14C>G
|
|
|
NM_000528.4(MAN2B1):c.1309+18G>C
|
|
|
NM_000528.4(MAN2B1):c.1309+7G>A
|
rs2145259814
|
|
NM_000528.4(MAN2B1):c.1309+7G>T
|
|
|
NM_000528.4(MAN2B1):c.1309+7del
|
|
|
NM_000528.4(MAN2B1):c.1309+8T>G
|
|
|
NM_000528.4(MAN2B1):c.1310-12G>C
|
|
|
NM_000528.4(MAN2B1):c.1310-14T>C
|
|
|
NM_000528.4(MAN2B1):c.1310-16C>A
|
|
|
NM_000528.4(MAN2B1):c.1310-4G>A
|
|
|
NM_000528.4(MAN2B1):c.1310-7T>C
|
rs2145257269
|
|
NM_000528.4(MAN2B1):c.1310-8A>G
|
|
|
NM_000528.4(MAN2B1):c.1323T>C (p.Ala441=)
|
|
|
NM_000528.4(MAN2B1):c.1335T>C (p.His445=)
|
|
|
NM_000528.4(MAN2B1):c.1350C>T (p.Ser450=)
|
|
|
NM_000528.4(MAN2B1):c.1356C>T (p.Thr452=)
|
rs1160056496
|
|
NM_000528.4(MAN2B1):c.1359C>T (p.Ser453=)
|
|
|
NM_000528.4(MAN2B1):c.135C>G (p.Ala45=)
|
rs200413076
|
|
NM_000528.4(MAN2B1):c.1362C>T (p.Arg454=)
|
rs2145256884
|
|
NM_000528.4(MAN2B1):c.1371G>A (p.Val457=)
|
rs1160690876
|
|
NM_000528.4(MAN2B1):c.1377C>T (p.Asn459=)
|
|
|
NM_000528.4(MAN2B1):c.1383C>T (p.Tyr461=)
|
rs775200333
|
|
NM_000528.4(MAN2B1):c.1386G>A (p.Ala462=)
|
|
|
NM_000528.4(MAN2B1):c.1386G>C (p.Ala462=)
|
rs1485268011
|
|
NM_000528.4(MAN2B1):c.1386G>T (p.Ala462=)
|
rs1485268011
|
|
NM_000528.4(MAN2B1):c.1389C>T (p.Arg463=)
|
|
|
NM_000528.4(MAN2B1):c.1395T>C (p.Leu465=)
|
|
|
NM_000528.4(MAN2B1):c.1398G>A (p.Ala466=)
|
rs774396746
|
|
NM_000528.4(MAN2B1):c.1398G>C (p.Ala466=)
|
rs774396746
|
|
NM_000528.4(MAN2B1):c.1398G>T (p.Ala466=)
|
rs774396746
|
|
NM_000528.4(MAN2B1):c.1401A>T (p.Ala467=)
|
|
|
NM_000528.4(MAN2B1):c.1410G>A (p.Gly470=)
|
|
|
NM_000528.4(MAN2B1):c.1410G>C (p.Gly470=)
|
rs1382087193
|
|
NM_000528.4(MAN2B1):c.1410G>T (p.Gly470=)
|
|
|
NM_000528.4(MAN2B1):c.1419+13A>G
|
|
|
NM_000528.4(MAN2B1):c.1419+16C>T
|
|
|
NM_000528.4(MAN2B1):c.1419+20G>A
|
|
|
NM_000528.4(MAN2B1):c.1419+7G>A
|
|
|
NM_000528.4(MAN2B1):c.141T>C (p.Ala47=)
|
|
|
NM_000528.4(MAN2B1):c.1420-12G>T
|
|
|
NM_000528.4(MAN2B1):c.1420-13C>T
|
|
|
NM_000528.4(MAN2B1):c.1420-14G>A
|
|
|
NM_000528.4(MAN2B1):c.1420-14G>C
|
|
|
NM_000528.4(MAN2B1):c.1420-14G>T
|
|
|
NM_000528.4(MAN2B1):c.1420-19C>T
|
|
|
NM_000528.4(MAN2B1):c.1420-4G>A
|
|
|
NM_000528.4(MAN2B1):c.1420-4G>T
|
rs903942990
|
|
NM_000528.4(MAN2B1):c.1420-5C>T
|
|
|
NM_000528.4(MAN2B1):c.1420-5del
|
|
|
NM_000528.4(MAN2B1):c.1420-9C>T
|
|
|
NM_000528.4(MAN2B1):c.1437G>A (p.Ala479=)
|
rs139435774
|
|
NM_000528.4(MAN2B1):c.1443G>A (p.Ala481=)
|
rs2145254460
|
|
NM_000528.4(MAN2B1):c.1446G>A (p.Arg482=)
|
|
|
NM_000528.4(MAN2B1):c.1446G>C (p.Arg482=)
|
|
|
NM_000528.4(MAN2B1):c.1455C>T (p.Gly485=)
|
|
|
NM_000528.4(MAN2B1):c.1464T>C (p.Asp488=)
|
rs2145254316
|
|
NM_000528.4(MAN2B1):c.1467C>T (p.His489=)
|
rs2145254289
|
|
NM_000528.4(MAN2B1):c.1485G>A (p.Gln495=)
|
|
|
NM_000528.4(MAN2B1):c.1503C>T (p.Cys501=)
|
rs886054230
|
|
NM_000528.4(MAN2B1):c.1506G>C (p.Pro502=)
|
rs1167317443
|
|
NM_000528.4(MAN2B1):c.1509C>T (p.Leu503=)
|
rs1406503787
|
|
NM_000528.4(MAN2B1):c.150G>C (p.Gly50=)
|
rs2145293903
|
|
NM_000528.4(MAN2B1):c.1515G>A (p.Gln505=)
|
|
|
NM_000528.4(MAN2B1):c.1521G>A (p.Ala507=)
|
|
|
NM_000528.4(MAN2B1):c.1524G>A (p.Ala508=)
|
|
|
NM_000528.4(MAN2B1):c.1527+10G>A
|
|
|
NM_000528.4(MAN2B1):c.1527+12C>G
|
|
|
NM_000528.4(MAN2B1):c.1527+13G>A
|
|
|
NM_000528.4(MAN2B1):c.1527+13G>T
|
|
|
NM_000528.4(MAN2B1):c.1527+20G>A
|
|
|
NM_000528.4(MAN2B1):c.1527+20G>T
|
|
|
NM_000528.4(MAN2B1):c.1527+8G>A
|
|
|
NM_000528.4(MAN2B1):c.1527+8G>C
|
rs1216647114
|
|
NM_000528.4(MAN2B1):c.1528-11C>T
|
|
|
NM_000528.4(MAN2B1):c.1528-12C>A
|
|
|
NM_000528.4(MAN2B1):c.1528-13C>T
|
|
|
NM_000528.4(MAN2B1):c.1528-14C>G
|
|
|
NM_000528.4(MAN2B1):c.1528-17G>C
|
|
|
NM_000528.4(MAN2B1):c.1528-19C>A
|
|
|
NM_000528.4(MAN2B1):c.1528-5C>T
|
rs1177088769
|
|
NM_000528.4(MAN2B1):c.1539C>A (p.Ile513=)
|
rs1277779220
|
|
NM_000528.4(MAN2B1):c.1539C>T (p.Ile513=)
|
|
|
NM_000528.4(MAN2B1):c.153A>T (p.Gly51=)
|
|
|
NM_000528.4(MAN2B1):c.1548T>C (p.Asn516=)
|
|
|
NM_000528.4(MAN2B1):c.1551C>T (p.Pro517=)
|
|
|
NM_000528.4(MAN2B1):c.1552C>T (p.Leu518=)
|
|
|
NM_000528.4(MAN2B1):c.1584G>C (p.Leu528=)
|
|
|
NM_000528.4(MAN2B1):c.1584G>T (p.Leu528=)
|
|
|
NM_000528.4(MAN2B1):c.1587G>A (p.Pro529=)
|
|
|
NM_000528.4(MAN2B1):c.159+10G>A
|
|
|
NM_000528.4(MAN2B1):c.159+12C>T
|
|
|
NM_000528.4(MAN2B1):c.159+15C>G
|
|
|
NM_000528.4(MAN2B1):c.159+15C>T
|
|
|
NM_000528.4(MAN2B1):c.159+16G>C
|
|
|
NM_000528.4(MAN2B1):c.159+7G>A
|
rs2145293824
|
|
NM_000528.4(MAN2B1):c.159+9G>C
|
rs764391534
|
|
NM_000528.4(MAN2B1):c.15G>A (p.Ala5=)
|
|
|
NM_000528.4(MAN2B1):c.15G>C (p.Ala5=)
|
|
|
NM_000528.4(MAN2B1):c.160-17T>C
|
|
|
NM_000528.4(MAN2B1):c.160-19G>A
|
|
|
NM_000528.4(MAN2B1):c.160-6G>A
|
|
|
NM_000528.4(MAN2B1):c.160-7T>C
|
|
|
NM_000528.4(MAN2B1):c.1605C>T (p.Phe535=)
|
rs1421304561
|
|
NM_000528.4(MAN2B1):c.1623T>C (p.Asn541=)
|
|
|
NM_000528.4(MAN2B1):c.1632A>G (p.Thr544=)
|
|
|
NM_000528.4(MAN2B1):c.1638C>T (p.Pro546=)
|
|
|
NM_000528.4(MAN2B1):c.1641C>T (p.Ser547=)
|
rs1295503998
|
|
NM_000528.4(MAN2B1):c.1644+12_1644+18dup
|
|
|
NM_000528.4(MAN2B1):c.1644+13_1644+15del
|
|
|
NM_000528.4(MAN2B1):c.1644+15C>T
|
|
|
NM_000528.4(MAN2B1):c.1644+16G>A
|
|
|
NM_000528.4(MAN2B1):c.1644+16G>C
|
|
|
NM_000528.4(MAN2B1):c.1644+18A>G
|
|
|
NM_000528.4(MAN2B1):c.1645-11C>T
|
|
|
NM_000528.4(MAN2B1):c.1645-12C>G
|
|
|
NM_000528.4(MAN2B1):c.1645-16T>C
|
|
|
NM_000528.4(MAN2B1):c.1645-18CCT[2]
|
rs2023943075
|
|
NM_000528.4(MAN2B1):c.1645-19C>T
|
|
|
NM_000528.4(MAN2B1):c.1645-9T>C
|
rs2145250951
|
|
NM_000528.4(MAN2B1):c.1659C>T (p.Pro553=)
|
rs1376701673
|
|
NM_000528.4(MAN2B1):c.1662C>T (p.Ser554=)
|
rs755140505
|
|
NM_000528.4(MAN2B1):c.1668C>T (p.Asp556=)
|
|
|
NM_000528.4(MAN2B1):c.1671C>T (p.Ser557=)
|
|
|
NM_000528.4(MAN2B1):c.1674G>A (p.Gln558=)
|
|
|
NM_000528.4(MAN2B1):c.168C>T (p.Pro56=)
|
|
|
NM_000528.4(MAN2B1):c.1695G>C (p.Leu565=)
|
|
|
NM_000528.4(MAN2B1):c.16C>A (p.Arg6=)
|
rs2024256322
|
|
NM_000528.4(MAN2B1):c.1701A>G (p.Ser567=)
|
|
|
NM_000528.4(MAN2B1):c.1704C>T (p.Ala568=)
|
rs781005116
|
|
NM_000528.4(MAN2B1):c.1707A>G (p.Ser569=)
|
rs2023940676
|
|
NM_000528.4(MAN2B1):c.1716C>T (p.Ala572=)
|
rs2023940192
|
|
NM_000528.4(MAN2B1):c.1717C>T (p.Leu573=)
|
rs1183097697
|
|
NM_000528.4(MAN2B1):c.1719G>T (p.Leu573=)
|
|
|
NM_000528.4(MAN2B1):c.1725C>T (p.Phe575=)
|
rs750784245
|
|
NM_000528.4(MAN2B1):c.1734T>C (p.Tyr578=)
|
|
|
NM_000528.4(MAN2B1):c.1740A>G (p.Val580=)
|
rs757635212
|
|
NM_000528.4(MAN2B1):c.1770C>T (p.Ala590=)
|
|
|
NM_000528.4(MAN2B1):c.1772G>A (p.Arg591His)
|
|
|
NM_000528.4(MAN2B1):c.1773C>T (p.Arg591=)
|
rs987054644
|
|
NM_000528.4(MAN2B1):c.1788C>A (p.Ile596=)
|
rs969379236
|
|
NM_000528.4(MAN2B1):c.1788C>T (p.Ile596=)
|
|
|
NM_000528.4(MAN2B1):c.1792A>C (p.Arg598=)
|
rs1214640045
|
|
NM_000528.4(MAN2B1):c.1806C>G (p.Ser602=)
|
|
|
NM_000528.4(MAN2B1):c.1821C>T (p.Ile607=)
|
rs2023936980
|
|
NM_000528.4(MAN2B1):c.1824A>G (p.Glu608=)
|
|
|
NM_000528.4(MAN2B1):c.1830+10C>T
|
rs2145249971
|
|
NM_000528.4(MAN2B1):c.1830+20C>T
|
|
|
NM_000528.4(MAN2B1):c.1830+7C>T
|
rs2145249984
|
|
NM_000528.4(MAN2B1):c.1830+8C>G
|
|
|
NM_000528.4(MAN2B1):c.1830+9C>G
|
rs1347363395
|
|
NM_000528.4(MAN2B1):c.1830+9C>T
|
rs1347363395
|
|
NM_000528.4(MAN2B1):c.1831-14C>G
|
|
|
NM_000528.4(MAN2B1):c.1831-17G>A
|
|
|
NM_000528.4(MAN2B1):c.1831-19T>A
|
|
|
NM_000528.4(MAN2B1):c.1831-5C>T
|
rs778068734
|
|
NM_000528.4(MAN2B1):c.1833C>T (p.His611=)
|
rs2145240327
|
|
NM_000528.4(MAN2B1):c.1836C>T (p.Ile612=)
|
|
|
NM_000528.4(MAN2B1):c.1839G>A (p.Arg613=)
|
|
|
NM_000528.4(MAN2B1):c.183C>T (p.Asn61=)
|
rs2145290875
|
|
NM_000528.4(MAN2B1):c.1850A>G (p.Asp617Gly)
|
rs370382032
|
|
NM_000528.4(MAN2B1):c.1866G>A (p.Leu622=)
|
|
|
NM_000528.4(MAN2B1):c.1869G>A (p.Leu623=)
|
|
|
NM_000528.4(MAN2B1):c.1875G>A (p.Glu625=)
|
rs753652903
|
|
NM_000528.4(MAN2B1):c.1896A>G (p.Gln632=)
|
rs1355122862
|
|
NM_000528.4(MAN2B1):c.1899C>T (p.Leu633=)
|
rs759584931
|
|
NM_000528.4(MAN2B1):c.18G>C (p.Arg6=)
|
|
|
NM_000528.4(MAN2B1):c.1902G>A (p.Leu634=)
|
rs2145240022
|
|
NM_000528.4(MAN2B1):c.1903C>T (p.Leu635=)
|
|
|
NM_000528.4(MAN2B1):c.1908T>G (p.Pro636=)
|
rs2145239992
|
|
NM_000528.4(MAN2B1):c.1923C>T (p.Phe641=)
|
|
|
NM_000528.4(MAN2B1):c.1926C>T (p.Phe642=)
|
rs2145239886
|
|
NM_000528.4(MAN2B1):c.1928+13C>T
|
|
|
NM_000528.4(MAN2B1):c.1928+14A>C
|
|
|
NM_000528.4(MAN2B1):c.1928+17A>G
|
|
|
NM_000528.4(MAN2B1):c.1928+7G>A
|
|
|
NM_000528.4(MAN2B1):c.1929-11C>T
|
|
|
NM_000528.4(MAN2B1):c.1929-16C>A
|
|
|
NM_000528.4(MAN2B1):c.1929-19T>C
|
|
|
NM_000528.4(MAN2B1):c.1929-19_1929-18del
|
rs754980913
|
|
NM_000528.4(MAN2B1):c.1929-4C>G
|
|
|
NM_000528.4(MAN2B1):c.1929-7A>C
|
|
|
NM_000528.4(MAN2B1):c.1929-7A>T
|
|
|
NM_000528.4(MAN2B1):c.192C>T (p.Asn64=)
|
|
|
NM_000528.4(MAN2B1):c.1932C>T (p.Tyr644=)
|
rs2145239589
|
|
NM_000528.4(MAN2B1):c.1950C>T (p.Asp650=)
|
|
|
NM_000528.4(MAN2B1):c.1959T>C (p.Ser653=)
|
rs1399579935
|
|
NM_000528.4(MAN2B1):c.195G>T (p.Val65=)
|
|
|
NM_000528.4(MAN2B1):c.1971A>C (p.Ser657=)
|
|
|
NM_000528.4(MAN2B1):c.1974T>C (p.Gly658=)
|
|
|
NM_000528.4(MAN2B1):c.2004A>G (p.Lys668=)
|
rs750566481
|
|
NM_000528.4(MAN2B1):c.2007G>T (p.Pro669=)
|
|
|
NM_000528.4(MAN2B1):c.2008C>T (p.Leu670=)
|
rs2145239106
|
|
NM_000528.4(MAN2B1):c.2010G>A (p.Leu670=)
|
|
|
NM_000528.4(MAN2B1):c.2046+12G>A
|
|
|
NM_000528.4(MAN2B1):c.2047-12G>C
|
|
|
NM_000528.4(MAN2B1):c.2047-14C>A
|
|
|
NM_000528.4(MAN2B1):c.2047-14C>G
|
|
|
NM_000528.4(MAN2B1):c.2047-14C>T
|
|
|
NM_000528.4(MAN2B1):c.2047-15C>A
|
|
|
NM_000528.4(MAN2B1):c.2047-15C>T
|
|
|
NM_000528.4(MAN2B1):c.2047-17C>T
|
|
|
NM_000528.4(MAN2B1):c.2047-19C>T
|
|
|
NM_000528.4(MAN2B1):c.2047-6C>T
|
|
|
NM_000528.4(MAN2B1):c.2047-7C>T
|
|
|
NM_000528.4(MAN2B1):c.2052C>G (p.Pro684=)
|
|
|
NM_000528.4(MAN2B1):c.2052C>T (p.Pro684=)
|
rs921831751
|
|
NM_000528.4(MAN2B1):c.2053T>C (p.Leu685=)
|
|
|
NM_000528.4(MAN2B1):c.2058G>A (p.Val686=)
|
|
|
NM_000528.4(MAN2B1):c.205C>G (p.Pro69Ala)
|
|
|
NM_000528.4(MAN2B1):c.2076C>T (p.Asn692=)
|
|
|
NM_000528.4(MAN2B1):c.2085T>C (p.Ala695=)
|
rs2145233462
|
|
NM_000528.4(MAN2B1):c.2097G>A (p.Gln699=)
|
|
|
NM_000528.4(MAN2B1):c.2107C>T (p.Leu703=)
|
rs1469037105
|
|
NM_000528.4(MAN2B1):c.2109G>A (p.Leu703=)
|
rs2145233361
|
|
NM_000528.4(MAN2B1):c.2109G>C (p.Leu703=)
|
|
|
NM_000528.4(MAN2B1):c.2112C>T (p.Tyr704=)
|
rs2023808625
|
|
NM_000528.4(MAN2B1):c.2121G>A (p.Gln707=)
|
|
|
NM_000528.4(MAN2B1):c.2122C>T (p.Arg708Trp)
|
|
|
NM_000528.4(MAN2B1):c.2133G>A (p.Glu711=)
|
|
|
NM_000528.4(MAN2B1):c.2148G>A (p.Val716=)
|
|
|
NM_000528.4(MAN2B1):c.2154G>A (p.Pro718=)
|
|
|
NM_000528.4(MAN2B1):c.2154G>C (p.Pro718=)
|
rs1239156445
|
|
NM_000528.4(MAN2B1):c.2160T>A (p.Pro720=)
|
rs939754783
|
|
NM_000528.4(MAN2B1):c.2165+20A>G
|
|
|
NM_000528.4(MAN2B1):c.2166-10T>C
|
rs2145232830
|
|
NM_000528.4(MAN2B1):c.2166-8G>T
|
|
|
NM_000528.4(MAN2B1):c.2169C>T (p.Asp723=)
|
rs2145232751
|
|
NM_000528.4(MAN2B1):c.219T>C (p.Asp73=)
|
|
|
NM_000528.4(MAN2B1):c.2202C>T (p.Asp734=)
|
|
|
NM_000528.4(MAN2B1):c.2209C>T (p.Leu737=)
|
|
|
NM_000528.4(MAN2B1):c.2220G>A (p.Lys740=)
|
rs1599341929
|
|
NM_000528.4(MAN2B1):c.222C>T (p.Asp74=)
|
rs746702002
|
|
NM_000528.4(MAN2B1):c.2247C>T (p.Gly749=)
|
rs762877000
|
|
NM_000528.4(MAN2B1):c.2248C>A (p.Arg750=)
|
rs80338680
|
|
NM_000528.4(MAN2B1):c.2250G>A (p.Arg750=)
|
rs2145232390
|
|
NM_000528.4(MAN2B1):c.2256C>T (p.Ile752=)
|
|
|
NM_000528.4(MAN2B1):c.2267+11A>G
|
|
|
NM_000528.4(MAN2B1):c.2267+13T>A
|
|
|
NM_000528.4(MAN2B1):c.2267+13_2267+14del
|
|
|
NM_000528.4(MAN2B1):c.2267+17A>C
|
|
|
NM_000528.4(MAN2B1):c.2267+8G>T
|
rs1599341786
|
|
NM_000528.4(MAN2B1):c.2267+8dup
|
rs572289342
|
|
NM_000528.4(MAN2B1):c.2268-10C>T
|
rs2145230110
|
|
NM_000528.4(MAN2B1):c.2268-13C>T
|
|
|
NM_000528.4(MAN2B1):c.2268-15C>G
|
|
|
NM_000528.4(MAN2B1):c.2268-20C>G
|
|
|
NM_000528.4(MAN2B1):c.2268-4_2268-3dup
|
rs2023783257
|
|
NM_000528.4(MAN2B1):c.2268-6C>T
|
|
|
NM_000528.4(MAN2B1):c.2268-7A>C
|
|
|
NM_000528.4(MAN2B1):c.2268-7A>T
|
rs1217502965
|
|
NM_000528.4(MAN2B1):c.2268-8A>C
|
rs2145230094
|
|
NM_000528.4(MAN2B1):c.2278C>A (p.Arg760=)
|
|
|
NM_000528.4(MAN2B1):c.2286C>G (p.Thr762=)
|
rs1329977611
|
|
NM_000528.4(MAN2B1):c.2295G>A (p.Leu765=)
|
|
|
NM_000528.4(MAN2B1):c.2310C>G (p.Pro770=)
|
|
|
NM_000528.4(MAN2B1):c.2331A>G (p.Pro777=)
|
|
|
NM_000528.4(MAN2B1):c.2340C>T (p.Thr780=)
|
|
|
NM_000528.4(MAN2B1):c.2355+10C>T
|
|
|
NM_000528.4(MAN2B1):c.2355+11C>T
|
|
|
NM_000528.4(MAN2B1):c.2355+12C>G
|
|
|
NM_000528.4(MAN2B1):c.2355+12C>T
|
rs748608740
|
|
NM_000528.4(MAN2B1):c.2355+13C>G
|
|
|
NM_000528.4(MAN2B1):c.2355+15T>A
|
|
|
NM_000528.4(MAN2B1):c.2355+16C>T
|
|
|
NM_000528.4(MAN2B1):c.2355+8_2355+10del
|
|
|
NM_000528.4(MAN2B1):c.2355+9C>G
|
rs1293149729
|
|
NM_000528.4(MAN2B1):c.2355+9C>T
|
|
|
NM_000528.4(MAN2B1):c.2356-10C>A
|
|
|
NM_000528.4(MAN2B1):c.2356-14C>T
|
|
|
NM_000528.4(MAN2B1):c.2356-15C>T
|
|
|
NM_000528.4(MAN2B1):c.2356-17C>G
|
|
|
NM_000528.4(MAN2B1):c.2356-19_2356-18del
|
|
|
NM_000528.4(MAN2B1):c.2356-4C>A
|
rs2145229013
|
|
NM_000528.4(MAN2B1):c.2356-5C>G
|
|
|
NM_000528.4(MAN2B1):c.2361A>G (p.Gly787=)
|
|
|
NM_000528.4(MAN2B1):c.2376T>G (p.Thr792=)
|
|
|
NM_000528.4(MAN2B1):c.2380C>T (p.Leu794=)
|
|
|
NM_000528.4(MAN2B1):c.2382G>A (p.Leu794=)
|
|
|
NM_000528.4(MAN2B1):c.2388C>T (p.Asp796=)
|
rs2145228830
|
|
NM_000528.4(MAN2B1):c.2397G>A (p.Gln799=)
|
|
|
NM_000528.4(MAN2B1):c.2415A>G (p.Arg805=)
|
|
|
NM_000528.4(MAN2B1):c.2421C>G (p.Gly807=)
|
rs2023773802
|
|
NM_000528.4(MAN2B1):c.2421C>T (p.Gly807=)
|
|
|
NM_000528.4(MAN2B1):c.2424G>C (p.Ser808=)
|
rs762947868
|
|
NM_000528.4(MAN2B1):c.2436+12A>G
|
|
|
NM_000528.4(MAN2B1):c.2436+17C>A
|
|
|
NM_000528.4(MAN2B1):c.2436+7G>C
|
rs2145228476
|
|
NM_000528.4(MAN2B1):c.2436+8G>C
|
rs1375276402
|
|
NM_000528.4(MAN2B1):c.2437-10C>G
|
|
|
NM_000528.4(MAN2B1):c.2437-10C>T
|
rs776013861
|
|
NM_000528.4(MAN2B1):c.2437-11T>A
|
|
|
NM_000528.4(MAN2B1):c.2437-12C>T
|
|
|
NM_000528.4(MAN2B1):c.2437-19C>T
|
rs2145226099
|
|
NM_000528.4(MAN2B1):c.2437-20C>T
|
|
|
NM_000528.4(MAN2B1):c.2437-22_2437-3dup
|
|
|
NM_000528.4(MAN2B1):c.2437-4C>G
|
rs772778684
|
|
NM_000528.4(MAN2B1):c.2437-4C>T
|
|
|
NM_000528.4(MAN2B1):c.2437-5C>A
|
rs200695002
|
|
NM_000528.4(MAN2B1):c.2437-5C>T
|
rs200695002
|
|
NM_000528.4(MAN2B1):c.2437-7C>G
|
|
|
NM_000528.4(MAN2B1):c.2437-8C>A
|
rs1599339769
|
|
NM_000528.4(MAN2B1):c.2437-8C>T
|
rs1599339769
|
|
NM_000528.4(MAN2B1):c.2439G>T (p.Val813=)
|
|
|
NM_000528.4(MAN2B1):c.2448G>A (p.Arg816=)
|
|
|
NM_000528.4(MAN2B1):c.2449C>T (p.Leu817=)
|
rs1333446493
|
|
NM_000528.4(MAN2B1):c.2452C>T (p.Leu818=)
|
|
|
NM_000528.4(MAN2B1):c.2472A>T (p.Gly824=)
|
rs2145225818
|
|
NM_000528.4(MAN2B1):c.2478G>T (p.Ser826=)
|
|
|
NM_000528.4(MAN2B1):c.2487A>C (p.Leu829=)
|
|
|
NM_000528.4(MAN2B1):c.24G>C (p.Ser8=)
|
rs2145294761
|
|
NM_000528.4(MAN2B1):c.2502G>A (p.Ser834=)
|
rs1244438379
|
|
NM_000528.4(MAN2B1):c.2505G>A (p.Gly835=)
|
rs756475764
|
|
NM_000528.4(MAN2B1):c.2508G>A (p.Ala836=)
|
rs1344703081
|
|
NM_000528.4(MAN2B1):c.2514G>A (p.Val838=)
|
|
|
NM_000528.4(MAN2B1):c.2529G>A (p.Leu843=)
|
rs2145225369
|
|
NM_000528.4(MAN2B1):c.2529G>C (p.Leu843=)
|
|
|
NM_000528.4(MAN2B1):c.2533C>T (p.Leu845=)
|
rs2023747886
|
|
NM_000528.4(MAN2B1):c.2535G>A (p.Leu845=)
|
rs2145225332
|
|
NM_000528.4(MAN2B1):c.2541C>T (p.Asp847=)
|
rs2145225321
|
|
NM_000528.4(MAN2B1):c.2559C>G (p.Ala853=)
|
rs1231981026
|
|
NM_000528.4(MAN2B1):c.2559C>T (p.Ala853=)
|
rs1231981026
|
|
NM_000528.4(MAN2B1):c.255T>C (p.Phe85=)
|
|
|
NM_000528.4(MAN2B1):c.2562C>T (p.Ala854=)
|
rs10410289
|
|
NM_000528.4(MAN2B1):c.2569C>A (p.Arg857=)
|
|
|
NM_000528.4(MAN2B1):c.2571G>T (p.Arg857=)
|
rs2145225130
|
|
NM_000528.4(MAN2B1):c.2574C>T (p.Leu858=)
|
|
|
NM_000528.4(MAN2B1):c.2577G>A (p.Leu859=)
|
|
|
NM_000528.4(MAN2B1):c.2580G>C (p.Ala860=)
|
rs2145225071
|
|
NM_000528.4(MAN2B1):c.258T>C (p.Tyr86=)
|
rs2145290474
|
|
NM_000528.4(MAN2B1):c.2592C>T (p.Val864=)
|
rs2145224964
|
|
NM_000528.4(MAN2B1):c.2619G>C (p.Pro873=)
|
rs372896479
|
|
NM_000528.4(MAN2B1):c.262+10G>A
|
rs2024216791
|
|
NM_000528.4(MAN2B1):c.262+11G>A
|
|
|
NM_000528.4(MAN2B1):c.262+13T>C
|
|
|
NM_000528.4(MAN2B1):c.262+15G>T
|
|
|
NM_000528.4(MAN2B1):c.262+16G>A
|
rs1184948246
|
|
NM_000528.4(MAN2B1):c.262+17G>A
|
|
|
NM_000528.4(MAN2B1):c.262+19C>G
|
|
|
NM_000528.4(MAN2B1):c.263-10T>C
|
rs1208363184
|
|
NM_000528.4(MAN2B1):c.263-15C>T
|
|
|
NM_000528.4(MAN2B1):c.263-18T>C
|
|
|
NM_000528.4(MAN2B1):c.263-20C>T
|
|
|
NM_000528.4(MAN2B1):c.263-4A>C
|
rs1201157333
|
|
NM_000528.4(MAN2B1):c.263-4A>G
|
|
|
NM_000528.4(MAN2B1):c.2631C>T (p.Ala877=)
|
|
|
NM_000528.4(MAN2B1):c.2637C>T (p.Tyr879=)
|
rs2023741724
|
|
NM_000528.4(MAN2B1):c.2643C>T (p.Leu881=)
|
rs2023741346
|
|
NM_000528.4(MAN2B1):c.2655G>C (p.Pro885=)
|
|
|
NM_000528.4(MAN2B1):c.2655G>T (p.Pro885=)
|
|
|
NM_000528.4(MAN2B1):c.2658C>T (p.Arg886=)
|
|
|
NM_000528.4(MAN2B1):c.2664+13G>A
|
|
|
NM_000528.4(MAN2B1):c.2664+15G>A
|
|
|
NM_000528.4(MAN2B1):c.2664+18A>G
|
|
|
NM_000528.4(MAN2B1):c.2664+20G>C
|
|
|
NM_000528.4(MAN2B1):c.2664+7G>C
|
|
|
NM_000528.4(MAN2B1):c.2664+8G>A
|
|
|
NM_000528.4(MAN2B1):c.2664+9C>T
|
rs1485817124
|
|
NM_000528.4(MAN2B1):c.2665-11C>G
|
|
|
NM_000528.4(MAN2B1):c.2665-11C>T
|
|
|
NM_000528.4(MAN2B1):c.2665-12T>C
|
|
|
NM_000528.4(MAN2B1):c.2665-15C>T
|
|
|
NM_000528.4(MAN2B1):c.2665-16G>A
|
|
|
NM_000528.4(MAN2B1):c.2665-17C>T
|
|
|
NM_000528.4(MAN2B1):c.2665-19C>G
|
|
|
NM_000528.4(MAN2B1):c.2665-19C>T
|
|
|
NM_000528.4(MAN2B1):c.2665-20C>G
|
|
|
NM_000528.4(MAN2B1):c.2665-20C>T
|
|
|
NM_000528.4(MAN2B1):c.2665-4G>A
|
rs1461826298
|
|
NM_000528.4(MAN2B1):c.2665-5C>T
|
rs1555706187
|
|
NM_000528.4(MAN2B1):c.2665-7C>T
|
|
|
NM_000528.4(MAN2B1):c.2665-8T>C
|
|
|
NM_000528.4(MAN2B1):c.2673G>A (p.Gly891=)
|
|
|
NM_000528.4(MAN2B1):c.2674C>T (p.Leu892=)
|
|
|
NM_000528.4(MAN2B1):c.2679C>A (p.Arg893=)
|
rs1434923922
|
|
NM_000528.4(MAN2B1):c.2685C>T (p.Asp895=)
|
rs2145221975
|
|
NM_000528.4(MAN2B1):c.2686C>T (p.Leu896=)
|
rs2145221961
|
|
NM_000528.4(MAN2B1):c.2691G>T (p.Pro897=)
|
|
|
NM_000528.4(MAN2B1):c.2694C>G (p.Pro898=)
|
|
|
NM_000528.4(MAN2B1):c.2694C>T (p.Pro898=)
|
rs2023721432
|
|
NM_000528.4(MAN2B1):c.2697G>A (p.Ser899=)
|
|
|
NM_000528.4(MAN2B1):c.2697G>C (p.Ser899=)
|
rs1342775181
|
|
NM_000528.4(MAN2B1):c.2700G>T (p.Val900=)
|
rs1274103813
|
|
NM_000528.4(MAN2B1):c.2703C>T (p.His901=)
|
|
|
NM_000528.4(MAN2B1):c.2704C>T (p.Leu902=)
|
|
|
NM_000528.4(MAN2B1):c.2712G>A (p.Thr904=)
|
rs773210333
|
|
NM_000528.4(MAN2B1):c.2718C>T (p.Ala906=)
|
rs2023720244
|
|
NM_000528.4(MAN2B1):c.2730C>A (p.Pro910=)
|
|
|
NM_000528.4(MAN2B1):c.2730C>G (p.Pro910=)
|
|
|
NM_000528.4(MAN2B1):c.2748C>T (p.Arg916=)
|
rs1184081650
|
|
NM_000528.4(MAN2B1):c.2760G>A (p.Gln920=)
|
|
|
NM_000528.4(MAN2B1):c.2769A>G (p.Val923=)
|
rs2145221414
|
|
NM_000528.4(MAN2B1):c.276C>A (p.Ile92=)
|
rs1568308637
|
|
NM_000528.4(MAN2B1):c.2781C>T (p.Ser927=)
|
|
|
NM_000528.4(MAN2B1):c.2782G>A (p.Gly928Arg)
|
rs754733253
|
|
NM_000528.4(MAN2B1):c.2784A>C (p.Gly928=)
|
rs2145221323
|
|
NM_000528.4(MAN2B1):c.2791C>T (p.Leu931=)
|
|
|
NM_000528.4(MAN2B1):c.2796C>T (p.Ser932=)
|
|
|
NM_000528.4(MAN2B1):c.2799C>T (p.Ala933=)
|
rs2145221244
|
|
NM_000528.4(MAN2B1):c.27G>T (p.Gly9=)
|
rs1428387159
|
|
NM_000528.4(MAN2B1):c.2802C>G (p.Pro934=)
|
|
|
NM_000528.4(MAN2B1):c.2802C>T (p.Pro934=)
|
rs772974771
|
|
NM_000528.4(MAN2B1):c.2808C>G (p.Thr936=)
|
|
|
NM_000528.4(MAN2B1):c.2817G>A (p.Leu939=)
|
|
|
NM_000528.4(MAN2B1):c.2818A>C (p.Arg940=)
|
|
|
NM_000528.4(MAN2B1):c.2820+10G>A
|
rs2145221057
|
|
NM_000528.4(MAN2B1):c.2820+17T>G
|
|
|
NM_000528.4(MAN2B1):c.2820+20G>A
|
|
|
NM_000528.4(MAN2B1):c.2820+7A>C
|
|
|
NM_000528.4(MAN2B1):c.2820+7A>G
|
|
|
NM_000528.4(MAN2B1):c.2820+8G>A
|
|
|
NM_000528.4(MAN2B1):c.2820+9G>C
|
|
|
NM_000528.4(MAN2B1):c.2821-12C>T
|
|
|
NM_000528.4(MAN2B1):c.2821-13C>A
|
|
|
NM_000528.4(MAN2B1):c.2821-16A>C
|
|
|
NM_000528.4(MAN2B1):c.2821-17C>G
|
|
|
NM_000528.4(MAN2B1):c.2821-20G>A
|
|
|
NM_000528.4(MAN2B1):c.2821-4G>A
|
rs753776387
|
|
NM_000528.4(MAN2B1):c.2821-7C>A
|
|
|
NM_000528.4(MAN2B1):c.2821-8C>A
|
|
|
NM_000528.4(MAN2B1):c.2821-9T>C
|
rs1230398007
|
|
NM_000528.4(MAN2B1):c.2826G>A (p.Leu942=)
|
rs2145220574
|
|
NM_000528.4(MAN2B1):c.2835C>T (p.Thr945=)
|
|
|
NM_000528.4(MAN2B1):c.2841C>A (p.Thr947=)
|
rs1599338014
|
|
NM_000528.4(MAN2B1):c.2844C>T (p.Ile948=)
|
|
|
NM_000528.4(MAN2B1):c.2847C>T (p.Thr949=)
|
|
|
NM_000528.4(MAN2B1):c.2850C>A (p.Arg950=)
|
rs2145220436
|
|
NM_000528.4(MAN2B1):c.2850C>T (p.Arg950=)
|
rs2145220436
|
|
NM_000528.4(MAN2B1):c.2853G>A (p.Leu951=)
|
rs2145220425
|
|
NM_000528.4(MAN2B1):c.285C>G (p.Ala95=)
|
rs750997069
|
|
NM_000528.4(MAN2B1):c.285C>T (p.Ala95=)
|
rs750997069
|
|
NM_000528.4(MAN2B1):c.2862C>G (p.Thr954=)
|
|
|
NM_000528.4(MAN2B1):c.2862C>T (p.Thr954=)
|
rs2145220382
|
|
NM_000528.4(MAN2B1):c.2865G>A (p.Thr955=)
|
rs148108322
|
|
NM_000528.4(MAN2B1):c.2883C>A (p.Leu961=)
|
rs1376771729
|
|
NM_000528.4(MAN2B1):c.288T>A (p.Gly96=)
|
|
|
NM_000528.4(MAN2B1):c.2898C>T (p.Ser966=)
|
rs2145220044
|
|
NM_000528.4(MAN2B1):c.2913A>G (p.Thr971=)
|
rs2145219944
|
|
NM_000528.4(MAN2B1):c.2923+10T>G
|
|
|
NM_000528.4(MAN2B1):c.2923+12G>A
|
|
|
NM_000528.4(MAN2B1):c.2923+16G>A
|
|
|
NM_000528.4(MAN2B1):c.2923+20T>A
|
|
|
NM_000528.4(MAN2B1):c.2924-10A>G
|
|
|
NM_000528.4(MAN2B1):c.2924-16C>T
|
|
|
NM_000528.4(MAN2B1):c.2924-19T>G
|
|
|
NM_000528.4(MAN2B1):c.2924-4C>G
|
|
|
NM_000528.4(MAN2B1):c.2924-4C>T
|
rs767564979
|
|
NM_000528.4(MAN2B1):c.2924-5_2924-3del
|
|
|
NM_000528.4(MAN2B1):c.2924-6C>T
|
|
|
NM_000528.4(MAN2B1):c.2924-9C>T
|
|
|
NM_000528.4(MAN2B1):c.2934C>T (p.Pro978=)
|
|
|
NM_000528.4(MAN2B1):c.2952G>A (p.Gln984=)
|
rs762355600
|
|
NM_000528.4(MAN2B1):c.2961G>T (p.Pro987=)
|
rs369658144
|
|
NM_000528.4(MAN2B1):c.2964C>G (p.Ala988=)
|
rs2145217649
|
|
NM_000528.4(MAN2B1):c.2970C>A (p.Ile990=)
|
|
|
NM_000528.4(MAN2B1):c.2974C>T (p.Leu992=)
|
|
|
NM_000528.4(MAN2B1):c.297C>T (p.Tyr99=)
|
|
|
NM_000528.4(MAN2B1):c.2982C>T (p.Pro994=)
|
|
|
NM_000528.4(MAN2B1):c.2991C>T (p.Ile997=)
|
rs886054228
|
|
NM_000528.4(MAN2B1):c.2994C>T (p.Arg998=)
|
rs2023694655
|
|
NM_000528.4(MAN2B1):c.3000C>T (p.Phe1000=)
|
|
|
NM_000528.4(MAN2B1):c.3009A>G (p.Ser1003=)
|
|
|
NM_000528.4(MAN2B1):c.300C>T (p.Ile100=)
|
|
|
NM_000528.4(MAN2B1):c.3030T>C (p.Asp1010=)
|
|
|
NM_000528.4(MAN2B1):c.306C>T (p.Asp102=)
|
rs2145289655
|
|
NM_000528.4(MAN2B1):c.309G>C (p.Ser103=)
|
rs1175779934
|
|
NM_000528.4(MAN2B1):c.309G>T (p.Ser103=)
|
rs1175779934
|
|
NM_000528.4(MAN2B1):c.30C>G (p.Val10=)
|
rs2145294698
|
|
NM_000528.4(MAN2B1):c.312C>T (p.Val104=)
|
|
|
NM_000528.4(MAN2B1):c.325C>T (p.Leu109=)
|
rs756417972
|
|
NM_000528.4(MAN2B1):c.333T>C (p.Asp111=)
|
|
|
NM_000528.4(MAN2B1):c.33C>T (p.Cys11=)
|
rs1599361566
|
|
NM_000528.4(MAN2B1):c.360G>A (p.Glu120=)
|
rs2145289378
|
|
NM_000528.4(MAN2B1):c.366C>T (p.Ala122=)
|
|
|
NM_000528.4(MAN2B1):c.387C>T (p.His129=)
|
|
|
NM_000528.4(MAN2B1):c.39C>A (p.Arg13=)
|
rs537304777
|
|
NM_000528.4(MAN2B1):c.39C>G (p.Arg13=)
|
rs537304777
|
|
NM_000528.4(MAN2B1):c.418C>A (p.Arg140=)
|
rs370803545
|
|
NM_000528.4(MAN2B1):c.426T>C (p.Leu142=)
|
|
|
NM_000528.4(MAN2B1):c.429G>A (p.Val143=)
|
rs2145288992
|
|
NM_000528.4(MAN2B1):c.436+10C>T
|
|
|
NM_000528.4(MAN2B1):c.436+12C>G
|
rs373250649
|
|
NM_000528.4(MAN2B1):c.436+13C>G
|
|
|
NM_000528.4(MAN2B1):c.436+14A>G
|
|
|
NM_000528.4(MAN2B1):c.436+20G>A
|
|
|
NM_000528.4(MAN2B1):c.436+20G>T
|
|
|
NM_000528.4(MAN2B1):c.437-11T>G
|
|
|
NM_000528.4(MAN2B1):c.437-20C>T
|
|
|
NM_000528.4(MAN2B1):c.437-4A>G
|
|
|
NM_000528.4(MAN2B1):c.437-4dup
|
|
|
NM_000528.4(MAN2B1):c.438G>A (p.Gly146=)
|
|
|
NM_000528.4(MAN2B1):c.447G>A (p.Glu149=)
|
|
|
NM_000528.4(MAN2B1):c.468G>A (p.Val156=)
|
rs746115085
|
|
NM_000528.4(MAN2B1):c.46C>T (p.Leu16=)
|
|
|
NM_000528.4(MAN2B1):c.495C>T (p.Tyr165=)
|
rs771479314
|
|
NM_000528.4(MAN2B1):c.504C>T (p.Ile168=)
|
rs769374044
|
|
NM_000528.4(MAN2B1):c.510C>T (p.Asp170=)
|
|
|
NM_000528.4(MAN2B1):c.525G>A (p.Gly175=)
|
rs2145287109
|
|
NM_000528.4(MAN2B1):c.526C>T (p.Leu176=)
|
rs750397298
|
|
NM_000528.4(MAN2B1):c.531C>A (p.Arg177=)
|
rs2024190021
|
|
NM_000528.4(MAN2B1):c.543C>T (p.Asp181=)
|
|
|
NM_000528.4(MAN2B1):c.57A>G (p.Ala19=)
|
rs2024254219
|
|
NM_000528.4(MAN2B1):c.582C>T (p.His194=)
|
rs1424705311
|
|
NM_000528.4(MAN2B1):c.609G>A (p.Glu203=)
|
rs139290127
|
|
NM_000528.4(MAN2B1):c.60C>A (p.Gly20=)
|
rs754783943
|
|
NM_000528.4(MAN2B1):c.60C>T (p.Gly20=)
|
|
|
NM_000528.4(MAN2B1):c.619C>T (p.Leu207=)
|
|
|
NM_000528.4(MAN2B1):c.624T>C (p.Phe208=)
|
rs374524357
|
|
NM_000528.4(MAN2B1):c.627G>C (p.Ala209=)
|
|
|
NM_000528.4(MAN2B1):c.630+10G>A
|
rs1200800972
|
|
NM_000528.4(MAN2B1):c.630+12G>A
|
|
|
NM_000528.4(MAN2B1):c.630+14C>T
|
|
|
NM_000528.4(MAN2B1):c.630+7C>A
|
rs1175845932
|
|
NM_000528.4(MAN2B1):c.630+9C>G
|
rs756927782
|
|
NM_000528.4(MAN2B1):c.631-12C>T
|
|
|
NM_000528.4(MAN2B1):c.631-15C>T
|
|
|
NM_000528.4(MAN2B1):c.631-17T>G
|
rs2145283422
|
|
NM_000528.4(MAN2B1):c.631-4C>G
|
|
|
NM_000528.4(MAN2B1):c.631-4C>T
|
rs2145283382
|
|
NM_000528.4(MAN2B1):c.631-4_631-3del
|
rs781749057
|
|
NM_000528.4(MAN2B1):c.631-6C>A
|
|
|
NM_000528.4(MAN2B1):c.639C>T (p.Phe213=)
|
rs886054233
|
|
NM_000528.4(MAN2B1):c.660C>T (p.Arg220=)
|
rs2145283213
|
|
NM_000528.4(MAN2B1):c.666T>C (p.Asp222=)
|
|
|
NM_000528.4(MAN2B1):c.687G>A (p.Arg229=)
|
rs1599357346
|
|
NM_000528.4(MAN2B1):c.697C>T (p.Leu233=)
|
|
|
NM_000528.4(MAN2B1):c.708G>A (p.Glu236=)
|
|
|
NM_000528.4(MAN2B1):c.729C>T (p.Thr243=)
|
rs2145282936
|
|
NM_000528.4(MAN2B1):c.732C>T (p.Ser244=)
|
|
|
NM_000528.4(MAN2B1):c.750G>A (p.Ala250=)
|
|
|
NM_000528.4(MAN2B1):c.75C>T (p.Ser25=)
|
|
|
NM_000528.4(MAN2B1):c.763+12G>C
|
|
|
NM_000528.4(MAN2B1):c.763+9C>A
|
|
|
NM_000528.4(MAN2B1):c.764-11G>A
|
|
|
NM_000528.4(MAN2B1):c.764-14G>T
|
|
|
NM_000528.4(MAN2B1):c.764-16T>C
|
|
|
NM_000528.4(MAN2B1):c.764-20G>A
|
|
|
NM_000528.4(MAN2B1):c.764-5T>G
|
|
|
NM_000528.4(MAN2B1):c.764-6C>T
|
|
|
NM_000528.4(MAN2B1):c.764-7C>T
|
|
|
NM_000528.4(MAN2B1):c.771T>A (p.Leu257=)
|
|
|
NM_000528.4(MAN2B1):c.783C>T (p.Tyr261=)
|
rs2024155693
|
|
NM_000528.4(MAN2B1):c.792A>C (p.Pro264=)
|
rs2145281669
|
|
NM_000528.4(MAN2B1):c.801G>A (p.Leu267=)
|
|
|
NM_000528.4(MAN2B1):c.804C>T (p.Cys268=)
|
|
|
NM_000528.4(MAN2B1):c.810T>C (p.Asp270=)
|
rs2145281612
|
|
NM_000528.4(MAN2B1):c.816G>A (p.Leu272=)
|
|
|
NM_000528.4(MAN2B1):c.831_832delinsAG (p.Leu278Val)
|
|
|
NM_000528.4(MAN2B1):c.852C>T (p.Ser284=)
|
|
|
NM_000528.4(MAN2B1):c.855C>G (p.Pro285=)
|
rs139218045
|
|
NM_000528.4(MAN2B1):c.861C>T (p.Tyr287=)
|
rs1280139624
|
|
NM_000528.4(MAN2B1):c.867C>T (p.Ala289=)
|
rs2145281259
|
|
NM_000528.4(MAN2B1):c.879C>A (p.Val293=)
|
rs746756800
|
|
NM_000528.4(MAN2B1):c.87G>A (p.Arg29=)
|
|
|
NM_000528.4(MAN2B1):c.885C>T (p.Tyr295=)
|
|
|
NM_000528.4(MAN2B1):c.888C>T (p.Phe296=)
|
rs1599356803
|
|
NM_000528.4(MAN2B1):c.909+10del
|
rs1568306887
|
|
NM_000528.4(MAN2B1):c.909+12G>A
|
|
|
NM_000528.4(MAN2B1):c.909+15C>T
|
|
|
NM_000528.4(MAN2B1):c.909+20C>A
|
|
|
NM_000528.4(MAN2B1):c.910-10T>C
|
rs2145273578
|
|
NM_000528.4(MAN2B1):c.910-10T>G
|
rs2145273578
|
|
NM_000528.4(MAN2B1):c.910-13C>G
|
|
|
NM_000528.4(MAN2B1):c.910-13C>T
|
|
|
NM_000528.4(MAN2B1):c.910-14C>T
|
|
|
NM_000528.4(MAN2B1):c.910-15C>A
|
|
|
NM_000528.4(MAN2B1):c.910-15C>G
|
|
|
NM_000528.4(MAN2B1):c.910-16C>T
|
|
|
NM_000528.4(MAN2B1):c.910-4G>T
|
rs1384001200
|
|
NM_000528.4(MAN2B1):c.910-6C>T
|
|
|
NM_000528.4(MAN2B1):c.910-7C>T
|
rs2145273567
|
|
NM_000528.4(MAN2B1):c.910-8G>C
|
rs2145273572
|
|
NM_000528.4(MAN2B1):c.915G>A (p.Arg305=)
|
rs755994517
|
|
NM_000528.4(MAN2B1):c.924C>A (p.Arg308=)
|
|
|
NM_000528.4(MAN2B1):c.924C>T (p.Arg308=)
|
rs1168829518
|
|
NM_000528.4(MAN2B1):c.939G>T (p.Val313=)
|
rs942342696
|
|
NM_000528.4(MAN2B1):c.951C>T (p.Gly317=)
|
|
|
NM_000528.4(MAN2B1):c.954G>A (p.Ser318=)
|
|
|
NM_000528.4(MAN2B1):c.972T>C (p.Asn324=)
|
|
|
NM_000528.4(MAN2B1):c.975C>T (p.Ala325=)
|
|
|
NM_000528.4(MAN2B1):c.993C>T (p.Asn331=)
|
rs2145272833
|
|
NM_000528.4(MAN2B1):c.99G>C (p.Pro33=)
|
|
|
NM_000528.4(MAN2B1):c.9C>T (p.Ala3=)
|
rs1228433382
|
|
NM_000642.3(AGL):c.1002G>T (p.Thr334=)
|
|
|
NM_000642.3(AGL):c.1017T>G (p.Pro339=)
|
|
|
NM_000642.3(AGL):c.1029G>A (p.Arg343=)
|
|
|
NM_000642.3(AGL):c.1029G>C (p.Arg343=)
|
|
|
NM_000642.3(AGL):c.102A>T (p.Arg34=)
|
rs2101084521
|
|
NM_000642.3(AGL):c.1044A>G (p.Val348=)
|
rs2101126342
|
|
NM_000642.3(AGL):c.1074A>T (p.Ile358=)
|
rs1651363104
|
|
NM_000642.3(AGL):c.1077A>G (p.Pro359=)
|
|
|
NM_000642.3(AGL):c.1080T>C (p.His360=)
|
rs2101126484
|
|
NM_000642.3(AGL):c.1082+10G>C
|
|
|
NM_000642.3(AGL):c.1082+10G>T
|
rs190435682
|
|
NM_000642.3(AGL):c.1082+10dup
|
|
|
NM_000642.3(AGL):c.1082+12G>A
|
|
|
NM_000642.3(AGL):c.1082+12G>T
|
|
|
NM_000642.3(AGL):c.1082+12_1082+13del
|
|
|
NM_000642.3(AGL):c.1082+17T>C
|
|
|
NM_000642.3(AGL):c.1082+19T>C
|
|
|
NM_000642.3(AGL):c.1082+8A>T
|
rs1375533728
|
|
NM_000642.3(AGL):c.1083-20C>T
|
|
|
NM_000642.3(AGL):c.1083-4C>T
|
rs750423236
|
|
NM_000642.3(AGL):c.1083-5T>C
|
rs767354759
|
|
NM_000642.3(AGL):c.1083-7G>A
|
rs2101127601
|
|
NM_000642.3(AGL):c.1083-8del
|
|
|
NM_000642.3(AGL):c.1083-9C>T
|
|
|
NM_000642.3(AGL):c.1092A>G (p.Pro364=)
|
rs2101127685
|
|
NM_000642.3(AGL):c.1095A>G (p.Ala365=)
|
|
|
NM_000642.3(AGL):c.1098A>G (p.Ala366=)
|
|
|
NM_000642.3(AGL):c.1107A>G (p.Glu369=)
|
rs2101127756
|
|
NM_000642.3(AGL):c.111A>G (p.Pro37=)
|
|
|
NM_000642.3(AGL):c.1140A>G (p.Glu380=)
|
rs1361797793
|
|
NM_000642.3(AGL):c.1155G>A (p.Lys385=)
|
rs28730701
|
|
NM_000642.3(AGL):c.1156C>T (p.His386Tyr)
|
|
|
NM_000642.3(AGL):c.1158T>C (p.His386=)
|
rs2101127937
|
|
NM_000642.3(AGL):c.1164C>T (p.Leu388=)
|
|
|
NM_000642.3(AGL):c.1173T>C (p.Tyr391=)
|
rs2101128035
|
|
NM_000642.3(AGL):c.117A>G (p.Leu39=)
|
rs998519383
|
|
NM_000642.3(AGL):c.1182A>G (p.Glu394=)
|
rs749678945
|
|
NM_000642.3(AGL):c.1185+10A>G
|
|
|
NM_000642.3(AGL):c.1185+11T>C
|
|
|
NM_000642.3(AGL):c.1185+18A>G
|
|
|
NM_000642.3(AGL):c.1185+7C>T
|
|
|
NM_000642.3(AGL):c.1185+8T>A
|
rs202105587
|
|
NM_000642.3(AGL):c.1185+8T>C
|
rs202105587
|
|
NM_000642.3(AGL):c.1186-13T>C
|
|
|
NM_000642.3(AGL):c.1186-16A>G
|
|
|
NM_000642.3(AGL):c.1186-17A>G
|
|
|
NM_000642.3(AGL):c.1186-19A>T
|
|
|
NM_000642.3(AGL):c.1194T>C (p.Asn398=)
|
rs771739331
|
|
NM_000642.3(AGL):c.1197C>T (p.Cys399=)
|
rs928269107
|
|
NM_000642.3(AGL):c.1201T>C (p.Leu401=)
|
|
|
NM_000642.3(AGL):c.1215T>C (p.Phe405=)
|
|
|
NM_000642.3(AGL):c.1225C>T (p.Leu409=)
|
rs1454484326
|
|
NM_000642.3(AGL):c.1227G>T (p.Leu409=)
|
|
|
NM_000642.3(AGL):c.1230T>C (p.Ala410=)
|
|
|
NM_000642.3(AGL):c.1239T>G (p.Gly413=)
|
|
|
NM_000642.3(AGL):c.1245A>G (p.Lys415=)
|
|
|
NM_000642.3(AGL):c.1263A>G (p.Arg421=)
|
rs1175506369
|
|
NM_000642.3(AGL):c.1269T>C (p.His423=)
|
|
|
NM_000642.3(AGL):c.1283+13T>C
|
|
|
NM_000642.3(AGL):c.1283+14_1283+17del
|
|
|
NM_000642.3(AGL):c.1283+15T>C
|
|
|
NM_000642.3(AGL):c.1283+19_1283+22del
|
|
|
NM_000642.3(AGL):c.1283+8A>C
|
rs933362509
|
|
NM_000642.3(AGL):c.1283+9T>C
|
|
|
NM_000642.3(AGL):c.1284-15A>T
|
|
|
NM_000642.3(AGL):c.1284-5C>T
|
rs2101131895
|
|
NM_000642.3(AGL):c.1284G>A (p.Arg428=)
|
rs1651537285
|
|
NM_000642.3(AGL):c.1296C>T (p.Phe432=)
|
|
|
NM_000642.3(AGL):c.1299A>G (p.Pro433=)
|
rs760818372
|
|
NM_000642.3(AGL):c.12T>C (p.Ser4=)
|
rs2101053449
|
|
NM_000642.3(AGL):c.1302T>C (p.Phe434=)
|
rs1553185651
|
|
NM_000642.3(AGL):c.1311A>T (p.Ile437=)
|
|
|
NM_000642.3(AGL):c.1320C>A (p.Ser440=)
|
|
|
NM_000642.3(AGL):c.1320C>T (p.Ser440=)
|
rs267597890
|
|
NM_000642.3(AGL):c.1326A>G (p.Glu442=)
|
rs886044919
|
|
NM_000642.3(AGL):c.1341T>C (p.His447=)
|
|
|
NM_000642.3(AGL):c.1347A>G (p.Pro449=)
|
rs777389017
|
|
NM_000642.3(AGL):c.135C>G (p.Thr45=)
|
|
|
NM_000642.3(AGL):c.1377T>C (p.Asn459=)
|
rs2101132309
|
|
NM_000642.3(AGL):c.1386A>G (p.Val462=)
|
|
|
NM_000642.3(AGL):c.1392A>G (p.Gly464=)
|
|
|
NM_000642.3(AGL):c.1413T>C (p.Phe471=)
|
rs2101132549
|
|
NM_000642.3(AGL):c.1416T>C (p.Ala472=)
|
rs765766800
|
|
NM_000642.3(AGL):c.1416T>G (p.Ala472=)
|
|
|
NM_000642.3(AGL):c.141T>C (p.Tyr47=)
|
|
|
NM_000642.3(AGL):c.1423+10T>C
|
|
|
NM_000642.3(AGL):c.1423+12_1423+13del
|
rs2101132679
|
|
NM_000642.3(AGL):c.1423+19C>T
|
|
|
NM_000642.3(AGL):c.1424-11T>C
|
|
|
NM_000642.3(AGL):c.1424-13C>T
|
|
|
NM_000642.3(AGL):c.1424-14T>A
|
|
|
NM_000642.3(AGL):c.1424-8C>T
|
rs775943758
|
|
NM_000642.3(AGL):c.1424-9T>A
|
|
|
NM_000642.3(AGL):c.1428A>G (p.Ser476=)
|
|
|
NM_000642.3(AGL):c.1476A>G (p.Lys492=)
|
|
|
NM_000642.3(AGL):c.1482C>A (p.Arg494=)
|
rs781451112
|
|
NM_000642.3(AGL):c.1503C>T (p.Asp501=)
|
|
|
NM_000642.3(AGL):c.1509T>G (p.Pro503=)
|
|
|
NM_000642.3(AGL):c.1515C>G (p.Leu505=)
|
|
|
NM_000642.3(AGL):c.1521A>G (p.Ala507=)
|
|
|
NM_000642.3(AGL):c.1524C>T (p.His508=)
|
rs1428902524
|
|
NM_000642.3(AGL):c.1533A>G (p.Lys511=)
|
|
|
NM_000642.3(AGL):c.1557T>C (p.Tyr519=)
|
rs2101136695
|
|
NM_000642.3(AGL):c.1560C>T (p.Phe520=)
|
rs778983440
|
|
NM_000642.3(AGL):c.1572T>A (p.Arg524=)
|
|
|
NM_000642.3(AGL):c.1587C>T (p.His529=)
|
|
|
NM_000642.3(AGL):c.1611+14A>G
|
|
|
NM_000642.3(AGL):c.1611+16T>G
|
|
|
NM_000642.3(AGL):c.1611+19T>C
|
|
|
NM_000642.3(AGL):c.1611+8A>C
|
rs2101137054
|
|
NM_000642.3(AGL):c.1611+8A>G
|
rs2101137054
|
|
NM_000642.3(AGL):c.1611+9A>G
|
rs2101137063
|
|
NM_000642.3(AGL):c.1612-12_1612-11del
|
|
|
NM_000642.3(AGL):c.1629T>G (p.Ala543=)
|
|
|
NM_000642.3(AGL):c.1632G>A (p.Arg544=)
|
rs2101145130
|
|
NM_000642.3(AGL):c.1636T>C (p.Leu546=)
|
rs2101145143
|
|
NM_000642.3(AGL):c.1641A>G (p.Gln547=)
|
|
|
NM_000642.3(AGL):c.1644C>T (p.Pro548=)
|
|
|
NM_000642.3(AGL):c.1656A>G (p.Val552=)
|
|
|
NM_000642.3(AGL):c.1659A>G (p.Val553=)
|
rs2101145334
|
|
NM_000642.3(AGL):c.1668G>A (p.Leu556=)
|
|
|
NM_000642.3(AGL):c.1668G>T (p.Leu556=)
|
|
|
NM_000642.3(AGL):c.1674A>G (p.Thr558=)
|
rs1454235069
|
|
NM_000642.3(AGL):c.1674A>T (p.Thr558=)
|
rs1454235069
|
|
NM_000642.3(AGL):c.1686T>C (p.Asp562=)
|
rs2101145564
|
|
NM_000642.3(AGL):c.1695T>C (p.Asn565=)
|
|
|
NM_000642.3(AGL):c.1704T>A (p.Val568=)
|
|
|
NM_000642.3(AGL):c.1732A>C (p.Arg578=)
|
|
|
NM_000642.3(AGL):c.1735+11T>C
|
|
|
NM_000642.3(AGL):c.1735+15G>A
|
|
|
NM_000642.3(AGL):c.1735+16T>G
|
|
|
NM_000642.3(AGL):c.1735+17G>T
|
|
|
NM_000642.3(AGL):c.1735+9G>A
|
rs1288733181
|
|
NM_000642.3(AGL):c.1736-12A>G
|
|
|
NM_000642.3(AGL):c.1736-13T>C
|
|
|
NM_000642.3(AGL):c.1736-14G>A
|
|
|
NM_000642.3(AGL):c.1736-17T>G
|
|
|
NM_000642.3(AGL):c.1736-18T>C
|
|
|
NM_000642.3(AGL):c.1736-4G>A
|
rs1651932304
|
|
NM_000642.3(AGL):c.1740A>G (p.Ala580=)
|
rs746250061
|
|
NM_000642.3(AGL):c.1755T>C (p.Asn585=)
|
rs900875709
|
|
NM_000642.3(AGL):c.1758T>C (p.Ser586=)
|
|
|
NM_000642.3(AGL):c.1761T>C (p.His587=)
|
|
|
NM_000642.3(AGL):c.1767G>A (p.Glu589=)
|
rs146514283
|
|
NM_000642.3(AGL):c.1770C>T (p.Gly590=)
|
|
|
NM_000642.3(AGL):c.177A>G (p.Arg59=)
|
rs2101084841
|
|
NM_000642.3(AGL):c.1800T>C (p.Pro600=)
|
|
|
NM_000642.3(AGL):c.1800T>G (p.Pro600=)
|
|
|
NM_000642.3(AGL):c.1803T>A (p.Val601=)
|
rs2101148745
|
|
NM_000642.3(AGL):c.1809C>G (p.Ser603=)
|
rs111918608
|
|
NM_000642.3(AGL):c.1809C>T (p.Ser603=)
|
rs111918608
|
|
NM_000642.3(AGL):c.1815T>C (p.Val605=)
|
|
|
NM_000642.3(AGL):c.1821C>G (p.Pro607=)
|
rs1257838110
|
|
NM_000642.3(AGL):c.1828A>C (p.Arg610=)
|
|
|
NM_000642.3(AGL):c.1829G>A (p.Arg610Lys)
|
rs781127120
|
|
NM_000642.3(AGL):c.1836A>G (p.Leu612=)
|
rs2101148994
|
|
NM_000642.3(AGL):c.1858C>T (p.Leu620=)
|
|
|
NM_000642.3(AGL):c.1860G>C (p.Leu620=)
|
rs1310988061
|
|
NM_000642.3(AGL):c.1875G>A (p.Thr625=)
|
rs141944878
|
|
NM_000642.3(AGL):c.1875G>C (p.Thr625=)
|
rs141944878
|
|
NM_000642.3(AGL):c.1887G>A (p.Glu629=)
|
|
|
NM_000642.3(AGL):c.1899+11A>C
|
|
|
NM_000642.3(AGL):c.1899+11A>G
|
|
|
NM_000642.3(AGL):c.1899+12A>G
|
|
|
NM_000642.3(AGL):c.1899+17T>C
|
|
|
NM_000642.3(AGL):c.1899+7A>G
|
|
|
NM_000642.3(AGL):c.18G>A (p.Gln6=)
|
rs1469251200
|
|
NM_000642.3(AGL):c.1900-13T>C
|
|
|
NM_000642.3(AGL):c.1900-13T>G
|
|
|
NM_000642.3(AGL):c.1900-20T>A
|
|
|
NM_000642.3(AGL):c.1900-20TTG[3]
|
rs755380433
|
|
NM_000642.3(AGL):c.1902T>C (p.His634=)
|
rs2100758372
|
|
NM_000642.3(AGL):c.1926A>G (p.Pro642=)
|
rs2100758481
|
|
NM_000642.3(AGL):c.193C>T (p.Leu65=)
|
rs772086117
|
|
NM_000642.3(AGL):c.1950A>C (p.Ala650=)
|
rs776501271
|
|
NM_000642.3(AGL):c.1950A>G (p.Ala650=)
|
rs776501271
|
|
NM_000642.3(AGL):c.1965A>C (p.Gly655=)
|
|
|
NM_000642.3(AGL):c.1971A>T (p.Thr657=)
|
rs767863471
|
|
NM_000642.3(AGL):c.1980T>C (p.Tyr660=)
|
rs2100758758
|
|
NM_000642.3(AGL):c.198T>C (p.Asp66=)
|
rs773291730
|
|
NM_000642.3(AGL):c.1992G>A (p.Val664=)
|
rs2100758768
|
|
NM_000642.3(AGL):c.2001+11A>G
|
|
|
NM_000642.3(AGL):c.2001+12T>C
|
|
|
NM_000642.3(AGL):c.2001+16G>T
|
|
|
NM_000642.3(AGL):c.2001+8_2001+9delinsCT
|
rs1064794512
|
|
NM_000642.3(AGL):c.2002-17A>G
|
|
|
NM_000642.3(AGL):c.2002-4C>T
|
rs2100759232
|
|
NM_000642.3(AGL):c.2002-5T>C
|
rs201718705
|
|
NM_000642.3(AGL):c.2002-6G>T
|
|
|
NM_000642.3(AGL):c.2004T>C (p.Ile668=)
|
rs186966939
|
|
NM_000642.3(AGL):c.2007A>G (p.Ser669=)
|
rs2100759275
|
|
NM_000642.3(AGL):c.2016T>C (p.Ser672=)
|
rs985097322
|
|
NM_000642.3(AGL):c.2022A>G (p.Glu674=)
|
rs1329258484
|
|
NM_000642.3(AGL):c.2025G>C (p.Arg675=)
|
|
|
NM_000642.3(AGL):c.2025G>T (p.Arg675=)
|
|
|
NM_000642.3(AGL):c.2046T>C (p.Pro682=)
|
|
|
NM_000642.3(AGL):c.2067A>C (p.Thr689=)
|
|
|
NM_000642.3(AGL):c.2067A>G (p.Thr689=)
|
rs2100759548
|
|
NM_000642.3(AGL):c.2079T>C (p.Asn693=)
|
|
|
NM_000642.3(AGL):c.2085A>G (p.Gln695=)
|
rs1652010292
|
|
NM_000642.3(AGL):c.2091C>G (p.Gly697=)
|
|
|
NM_000642.3(AGL):c.2094T>A (p.Ile698=)
|
|
|
NM_000642.3(AGL):c.2094T>C (p.Ile698=)
|
rs750666972
|
|
NM_000642.3(AGL):c.2106G>A (p.Arg702=)
|
rs2100759717
|
|
NM_000642.3(AGL):c.2121A>G (p.Lys707=)
|
|
|
NM_000642.3(AGL):c.2133G>A (p.Glu711=)
|
rs1652016399
|
|
NM_000642.3(AGL):c.2145G>A (p.Lys715=)
|
|
|
NM_000642.3(AGL):c.2157+11A>G
|
|
|
NM_000642.3(AGL):c.2157+20G>A
|
|
|
NM_000642.3(AGL):c.2158-12T>G
|
|
|
NM_000642.3(AGL):c.2158-14T>C
|
|
|
NM_000642.3(AGL):c.2158-15C>A
|
rs1447772144
|
|
NM_000642.3(AGL):c.2158-17T>G
|
|
|
NM_000642.3(AGL):c.2158-18G>A
|
rs2100760038
|
|
NM_000642.3(AGL):c.2158-18_2158-16del
|
rs770934299
|
|
NM_000642.3(AGL):c.2158-4T>G
|
rs2100760100
|
|
NM_000642.3(AGL):c.2158-5C>T
|
|
|
NM_000642.3(AGL):c.2158-8C>G
|
rs1570445543
|
|
NM_000642.3(AGL):c.2158-8C>T
|
|
|
NM_000642.3(AGL):c.2166G>C (p.Val722=)
|
rs2100760140
|
|
NM_000642.3(AGL):c.2166G>T (p.Val722=)
|
|
|
NM_000642.3(AGL):c.2175T>A (p.Val725=)
|
rs2100760175
|
|
NM_000642.3(AGL):c.2178T>C (p.Asp726=)
|
|
|
NM_000642.3(AGL):c.2187A>C (p.Ile729=)
|
|
|
NM_000642.3(AGL):c.2190G>A (p.Val730=)
|
rs1652030602
|
|
NM_000642.3(AGL):c.2196A>C (p.Val732=)
|
|
|
NM_000642.3(AGL):c.2205C>T (p.His735=)
|
rs769218837
|
|
NM_000642.3(AGL):c.2211T>C (p.Pro737=)
|
rs935908606
|
|
NM_000642.3(AGL):c.2211T>G (p.Pro737=)
|
rs935908606
|
|
NM_000642.3(AGL):c.2214C>T (p.Ser738=)
|
|
|
NM_000642.3(AGL):c.2223G>A (p.Gln741=)
|
|
|
NM_000642.3(AGL):c.2229T>A (p.Val743=)
|
rs2100760439
|
|
NM_000642.3(AGL):c.2229T>C (p.Val743=)
|
rs2100760439
|
|
NM_000642.3(AGL):c.2232G>A (p.Val744=)
|
|
|
NM_000642.3(AGL):c.2235T>G (p.Ala745=)
|
|
|
NM_000642.3(AGL):c.2238A>G (p.Val746=)
|
rs1487514991
|
|
NM_000642.3(AGL):c.2241T>G (p.Ser747=)
|
rs754816668
|
|
NM_000642.3(AGL):c.225T>C (p.Asp75=)
|
|
|
NM_000642.3(AGL):c.2277C>T (p.Tyr759=)
|
rs2100760610
|
|
NM_000642.3(AGL):c.2286A>G (p.Glu762=)
|
|
|
NM_000642.3(AGL):c.228T>C (p.Asp76=)
|
|
|
NM_000642.3(AGL):c.2308+10T>G
|
rs766145135
|
|
NM_000642.3(AGL):c.2308+19T>C
|
|
|
NM_000642.3(AGL):c.2308+20G>A
|
|
|
NM_000642.3(AGL):c.2308+20G>T
|
|
|
NM_000642.3(AGL):c.2308+8A>C
|
rs2100760752
|
|
NM_000642.3(AGL):c.2309-12A>T
|
|
|
NM_000642.3(AGL):c.2309-16T>G
|
|
|
NM_000642.3(AGL):c.2309-17T>A
|
|
|
NM_000642.3(AGL):c.2309-18G>A
|
|
|
NM_000642.3(AGL):c.2310C>T (p.Gly770=)
|
rs1570450663
|
|
NM_000642.3(AGL):c.2313A>G (p.Lys771=)
|
|
|
NM_000642.3(AGL):c.2319A>G (p.Glu773=)
|
rs1570450735
|
|
NM_000642.3(AGL):c.2325A>C (p.Val775=)
|
|
|
NM_000642.3(AGL):c.2325A>G (p.Val775=)
|
rs2100767961
|
|
NM_000642.3(AGL):c.2337T>A (p.Ala779=)
|
|
|
NM_000642.3(AGL):c.234T>C (p.Asp78=)
|
|
|
NM_000642.3(AGL):c.2358G>T (p.Thr786=)
|
rs764022108
|
|
NM_000642.3(AGL):c.2364T>C (p.Pro788=)
|
rs1368630389
|
|
NM_000642.3(AGL):c.2373G>A (p.Lys791=)
|
|
|
NM_000642.3(AGL):c.2388C>T (p.Ile796=)
|
rs2100768193
|
|
NM_000642.3(AGL):c.2394A>G (p.Gly798=)
|
|
|
NM_000642.3(AGL):c.240C>T (p.Tyr80=)
|
rs761894580
|
|
NM_000642.3(AGL):c.2418T>A (p.Ile806=)
|
rs780678357
|
|
NM_000642.3(AGL):c.2433+14T>C
|
|
|
NM_000642.3(AGL):c.2433+15C>A
|
|
|
NM_000642.3(AGL):c.2433+15C>T
|
|
|
NM_000642.3(AGL):c.2433+17T>C
|
|
|
NM_000642.3(AGL):c.2433+18C>G
|
|
|
NM_000642.3(AGL):c.2434-11T>C
|
|
|
NM_000642.3(AGL):c.2434-13A>G
|
|
|
NM_000642.3(AGL):c.2434-15G>A
|
rs1652280455
|
|
NM_000642.3(AGL):c.2434-18A>C
|
|
|
NM_000642.3(AGL):c.2434-19T>A
|
|
|
NM_000642.3(AGL):c.2434-4del
|
|
|
NM_000642.3(AGL):c.2434-9T>C
|
|
|
NM_000642.3(AGL):c.2439T>C (p.Asn813=)
|
rs2100768745
|
|
NM_000642.3(AGL):c.2442A>G (p.Glu814=)
|
rs2100768770
|
|
NM_000642.3(AGL):c.2451T>C (p.Ile817=)
|
|
|
NM_000642.3(AGL):c.2466A>T (p.Gly822=)
|
rs2100768839
|
|
NM_000642.3(AGL):c.246A>G (p.Lys82=)
|
rs1422529746
|
|
NM_000642.3(AGL):c.2481G>A (p.Gly827=)
|
|
|
NM_000642.3(AGL):c.2484C>T (p.Pro828=)
|
rs1570451390
|
|
NM_000642.3(AGL):c.2490A>G (p.Glu830=)
|
|
|
NM_000642.3(AGL):c.2493T>C (p.Tyr831=)
|
|
|
NM_000642.3(AGL):c.2497C>A (p.Gln833Lys)
|
rs757870729
|
|
NM_000642.3(AGL):c.249T>C (p.Leu83=)
|
|
|
NM_000642.3(AGL):c.2518T>C (p.Leu840=)
|
rs2100769077
|
|
NM_000642.3(AGL):c.2526A>G (p.Pro842=)
|
|
|
NM_000642.3(AGL):c.253C>T (p.Leu85=)
|
|
|
NM_000642.3(AGL):c.2546+14G>C
|
|
|
NM_000642.3(AGL):c.2546+18A>G
|
|
|
NM_000642.3(AGL):c.2547-18T>C
|
|
|
NM_000642.3(AGL):c.2547-9C>T
|
|
|
NM_000642.3(AGL):c.255G>A (p.Leu85=)
|
rs983460815
|
|
NM_000642.3(AGL):c.255G>T (p.Leu85=)
|
rs983460815
|
|
NM_000642.3(AGL):c.2562A>G (p.Pro854=)
|
rs2100769639
|
|
NM_000642.3(AGL):c.2565T>C (p.His855=)
|
rs1312742910
|
|
NM_000642.3(AGL):c.2568A>G (p.Ala856=)
|
|
|
NM_000642.3(AGL):c.2568A>T (p.Ala856=)
|
rs778333621
|
|
NM_000642.3(AGL):c.2577T>C (p.Ala859=)
|
|
|
NM_000642.3(AGL):c.2589T>C (p.Leu863=)
|
|
|
NM_000642.3(AGL):c.2604A>C (p.Thr868=)
|
|
|
NM_000642.3(AGL):c.2604A>G (p.Thr868=)
|
|
|
NM_000642.3(AGL):c.2619C>T (p.His873=)
|
|
|
NM_000642.3(AGL):c.2631C>T (p.Gly877=)
|
|
|
NM_000642.3(AGL):c.2635C>T (p.Leu879=)
|
|
|
NM_000642.3(AGL):c.2637A>G (p.Leu879=)
|
rs2100769858
|
|
NM_000642.3(AGL):c.2673T>A (p.Pro891=)
|
rs2100769997
|
|
NM_000642.3(AGL):c.2673T>C (p.Pro891=)
|
rs2100769997
|
|
NM_000642.3(AGL):c.2681+10C>T
|
|
|
NM_000642.3(AGL):c.2681+12T>G
|
|
|
NM_000642.3(AGL):c.2681+20T>C
|
|
|
NM_000642.3(AGL):c.2681+7A>G
|
rs1480314956
|
|
NM_000642.3(AGL):c.2681+8T>C
|
|
|
NM_000642.3(AGL):c.2681+9G>A
|
|
|
NM_000642.3(AGL):c.2681+9G>C
|
|
|
NM_000642.3(AGL):c.2681+9G>T
|
|
|
NM_000642.3(AGL):c.2682-10del
|
|
|
NM_000642.3(AGL):c.2682-16A>G
|
|
|
NM_000642.3(AGL):c.2700T>G (p.Thr900=)
|
|
|
NM_000642.3(AGL):c.2701T>C (p.Leu901=)
|
|
|
NM_000642.3(AGL):c.2706T>C (p.Ala902=)
|
|
|
NM_000642.3(AGL):c.2710C>T (p.Leu904=)
|
|
|
NM_000642.3(AGL):c.2739A>C (p.Ser913=)
|
|
|
NM_000642.3(AGL):c.2766C>T (p.Cys922=)
|
rs1652584310
|
|
NM_000642.3(AGL):c.276G>A (p.Gln92=)
|
|
|
NM_000642.3(AGL):c.2790C>T (p.Ala930=)
|
|
|
NM_000642.3(AGL):c.2799T>C (p.Tyr933=)
|
|
|
NM_000642.3(AGL):c.2802A>G (p.Ala934=)
|
rs34230588
|
|
NM_000642.3(AGL):c.2812+13A>C
|
|
|
NM_000642.3(AGL):c.2812+16G>T
|
|
|
NM_000642.3(AGL):c.2813-18A>G
|
|
|
NM_000642.3(AGL):c.2813-20A>G
|
|
|
NM_000642.3(AGL):c.2813-20A>T
|
|
|
NM_000642.3(AGL):c.2814T>C (p.Gly938=)
|
rs147590282
|
|
NM_000642.3(AGL):c.2823T>C (p.Ser941=)
|
rs1570463461
|
|
NM_000642.3(AGL):c.2832A>T (p.Ala944=)
|
rs1570463525
|
|
NM_000642.3(AGL):c.2835A>G (p.Glu945=)
|
rs757493715
|
|
NM_000642.3(AGL):c.2844A>G (p.Pro948=)
|
|
|
NM_000642.3(AGL):c.2847G>A (p.Lys949=)
|
|
|
NM_000642.3(AGL):c.2850T>C (p.Asn950=)
|
|
|
NM_000642.3(AGL):c.2859G>A (p.Gly953=)
|
rs749596632
|
|
NM_000642.3(AGL):c.2865T>C (p.Pro955=)
|
|
|
NM_000642.3(AGL):c.2892T>C (p.Asp964=)
|
rs2100788564
|
|
NM_000642.3(AGL):c.2904C>T (p.Asp968=)
|
rs760319249
|
|
NM_000642.3(AGL):c.2910C>T (p.Val970=)
|
|
|
NM_000642.3(AGL):c.2916C>T (p.Asn972=)
|
rs1652881200
|
|
NM_000642.3(AGL):c.2917C>A (p.Arg973=)
|
|
|
NM_000642.3(AGL):c.2919G>A (p.Arg973=)
|
|
|
NM_000642.3(AGL):c.2919G>T (p.Arg973=)
|
|
|
NM_000642.3(AGL):c.291A>G (p.Gln97=)
|
|
|
NM_000642.3(AGL):c.293+10G>A
|
rs2101085296
|
|
NM_000642.3(AGL):c.293+10G>T
|
|
|
NM_000642.3(AGL):c.293+15T>C
|
|
|
NM_000642.3(AGL):c.293+16T>C
|
|
|
NM_000642.3(AGL):c.293+19_293+22del
|
rs2101085303
|
|
NM_000642.3(AGL):c.293+7C>A
|
|
|
NM_000642.3(AGL):c.293+7C>G
|
rs777847856
|
|
NM_000642.3(AGL):c.293+8A>T
|
rs2101085281
|
|
NM_000642.3(AGL):c.294-12T>A
|
rs755307948
|
|
NM_000642.3(AGL):c.294-18T>C
|
|
|
NM_000642.3(AGL):c.294-20T>C
|
|
|
NM_000642.3(AGL):c.294-5C>T
|
|
|
NM_000642.3(AGL):c.2949+19T>C
|
|
|
NM_000642.3(AGL):c.2949+7A>G
|
|
|
NM_000642.3(AGL):c.2949+8G>C
|
rs2100788937
|
|
NM_000642.3(AGL):c.2950-14T>C
|
rs1476205079
|
|
NM_000642.3(AGL):c.2950-18A>G
|
|
|
NM_000642.3(AGL):c.2950-20C>A
|
|
|
NM_000642.3(AGL):c.2950-4A>G
|
rs895120257
|
|
NM_000642.3(AGL):c.2958A>G (p.Lys986=)
|
rs776028713
|
|
NM_000642.3(AGL):c.2967G>A (p.Gln989=)
|
rs2100789733
|
|
NM_000642.3(AGL):c.297T>C (p.Asn99=)
|
rs2101086914
|
|
NM_000642.3(AGL):c.2982C>T (p.Tyr994=)
|
|
|
NM_000642.3(AGL):c.2983C>T (p.Leu995=)
|
rs1292106664
|
|
NM_000642.3(AGL):c.2985G>A (p.Leu995=)
|
rs2100789816
|
|
NM_000642.3(AGL):c.2991G>A (p.Gln997=)
|
rs1570464401
|
|
NM_000642.3(AGL):c.2997A>C (p.Pro999=)
|
|
|
NM_000642.3(AGL):c.2997A>G (p.Pro999=)
|
|
|
NM_000642.3(AGL):c.3012A>C (p.Pro1004=)
|
|
|
NM_000642.3(AGL):c.3030A>T (p.Ile1010=)
|
|
|
NM_000642.3(AGL):c.3042A>G (p.Ala1014=)
|
rs372872214
|
|
NM_000642.3(AGL):c.3048C>T (p.Thr1016=)
|
|
|
NM_000642.3(AGL):c.3060T>C (p.Asp1020=)
|
|
|
NM_000642.3(AGL):c.3066A>G (p.Ala1022=)
|
|
|
NM_000642.3(AGL):c.3083+14A>G
|
|
|
NM_000642.3(AGL):c.3083+17T>C
|
|
|
NM_000642.3(AGL):c.3083+6_3083+9dup
|
rs2100790205
|
|
NM_000642.3(AGL):c.3083+8C>A
|
rs2100790226
|
|
NM_000642.3(AGL):c.3083+8C>G
|
rs2100790226
|
|
NM_000642.3(AGL):c.3083+9A>C
|
|
|
NM_000642.3(AGL):c.3084-13A>G
|
|
|
NM_000642.3(AGL):c.3084-16A>G
|
|
|
NM_000642.3(AGL):c.3084-19T>C
|
|
|
NM_000642.3(AGL):c.3084-19T>G
|
rs1165628984
|
|
NM_000642.3(AGL):c.3084-20T>G
|
|
|
NM_000642.3(AGL):c.3084-5dup
|
rs773212374
|
|
NM_000642.3(AGL):c.3087T>C (p.Phe1029=)
|
rs2100792263
|
|
NM_000642.3(AGL):c.3096T>C (p.Asn1032=)
|
|
|
NM_000642.3(AGL):c.30A>G (p.Leu10=)
|
|
|
NM_000642.3(AGL):c.3123A>G (p.Ser1041=)
|
rs2100792381
|
|
NM_000642.3(AGL):c.3129T>C (p.Gly1043=)
|
|
|
NM_000642.3(AGL):c.3138A>G (p.Gln1046=)
|
rs575551045
|
|
NM_000642.3(AGL):c.3147A>G (p.Gly1049=)
|
rs2100792528
|
|
NM_000642.3(AGL):c.3150A>G (p.Val1050=)
|
rs202095430
|
|
NM_000642.3(AGL):c.3159C>T (p.Phe1053=)
|
|
|
NM_000642.3(AGL):c.3171A>C (p.Pro1057=)
|
rs2100792641
|
|
NM_000642.3(AGL):c.3186C>T (p.Ala1062=)
|
rs1652981485
|
|
NM_000642.3(AGL):c.3195T>C (p.Asp1065=)
|
|
|
NM_000642.3(AGL):c.3198A>G (p.Val1066=)
|
rs1652982572
|
|
NM_000642.3(AGL):c.3204T>C (p.Tyr1068=)
|
|
|
NM_000642.3(AGL):c.3219C>A (p.Ile1073=)
|
rs2100792896
|
|
NM_000642.3(AGL):c.3222A>G (p.Thr1074=)
|
|
|
NM_000642.3(AGL):c.3234G>A (p.Glu1078=)
|
rs147184258
|
|
NM_000642.3(AGL):c.324T>C (p.Val108=)
|
rs2101087013
|
|
NM_000642.3(AGL):c.3252A>G (p.Leu1084=)
|
rs2100793038
|
|
NM_000642.3(AGL):c.3259+12T>G
|
|
|
NM_000642.3(AGL):c.3259+13G>T
|
|
|
NM_000642.3(AGL):c.3259+18A>G
|
|
|
NM_000642.3(AGL):c.3259+20G>T
|
|
|
NM_000642.3(AGL):c.3259+9_3259+25del
|
|
|
NM_000642.3(AGL):c.3260-14G>A
|
|
|
NM_000642.3(AGL):c.3260-14G>T
|
|
|
NM_000642.3(AGL):c.3260-14_3260-10dup
|
rs1653309500
|
|
NM_000642.3(AGL):c.3260-16G>A
|
rs2100803506
|
|
NM_000642.3(AGL):c.3260-16G>T
|
|
|
NM_000642.3(AGL):c.3260-5G>A
|
|
|
NM_000642.3(AGL):c.3260-5G>T
|
rs746869422
|
|
NM_000642.3(AGL):c.3260-8T>C
|
|
|
NM_000642.3(AGL):c.3260-9T>C
|
rs2100803568
|
|
NM_000642.3(AGL):c.3260-9T>G
|
|
|
NM_000642.3(AGL):c.3264A>G (p.Leu1088=)
|
|
|
NM_000642.3(AGL):c.3270T>C (p.His1090=)
|
|
|
NM_000642.3(AGL):c.3276T>C (p.Ser1092=)
|
rs2100803648
|
|
NM_000642.3(AGL):c.3279T>C (p.Ser1093=)
|
rs903732071
|
|
NM_000642.3(AGL):c.3279T>G (p.Ser1093=)
|
rs903732071
|
|
NM_000642.3(AGL):c.3282T>C (p.Gly1094=)
|
|
|
NM_000642.3(AGL):c.3291C>T (p.Arg1097=)
|
|
|
NM_000642.3(AGL):c.3300A>C (p.Gly1100=)
|
rs2100803771
|
|
NM_000642.3(AGL):c.3303G>A (p.Arg1101=)
|
rs1197553122
|
|
NM_000642.3(AGL):c.3309T>C (p.Thr1103=)
|
|
|
NM_000642.3(AGL):c.330C>T (p.Asp110=)
|
|
|
NM_000642.3(AGL):c.3327T>G (p.Gly1109=)
|
|
|
NM_000642.3(AGL):c.3331C>T (p.Leu1111=)
|
rs1475691182
|
|
NM_000642.3(AGL):c.3333G>A (p.Leu1111=)
|
|
|
NM_000642.3(AGL):c.3333G>C (p.Leu1111=)
|
|
|
NM_000642.3(AGL):c.3336G>A (p.Leu1112=)
|
|
|
NM_000642.3(AGL):c.3339T>A (p.Ile1113=)
|
|
|
NM_000642.3(AGL):c.333C>T (p.Pro111=)
|
rs1650111656
|
|
NM_000642.3(AGL):c.3351T>C (p.Tyr1117=)
|
rs2100804056
|
|
NM_000642.3(AGL):c.3362+11C>T
|
rs2100804172
|
|
NM_000642.3(AGL):c.3362+15A>G
|
|
|
NM_000642.3(AGL):c.3362+15A>T
|
|
|
NM_000642.3(AGL):c.3362+20G>A
|
|
|
NM_000642.3(AGL):c.3362+8A>G
|
rs920663521
|
|
NM_000642.3(AGL):c.3363-13T>C
|
|
|
NM_000642.3(AGL):c.3363-7G>A
|
|
|
NM_000642.3(AGL):c.3363-8del
|
rs2100817848
|
|
NM_000642.3(AGL):c.3363-9T>C
|
rs763907400
|
|
NM_000642.3(AGL):c.3375A>G (p.Leu1125=)
|
rs781078526
|
|
NM_000642.3(AGL):c.3378A>G (p.Ala1126=)
|
|
|
NM_000642.3(AGL):c.3381T>C (p.Phe1127=)
|
|
|
NM_000642.3(AGL):c.3393G>A (p.Leu1131=)
|
rs2100818013
|
|
NM_000642.3(AGL):c.3405C>T (p.Leu1135=)
|
rs1553190279
|
|
NM_000642.3(AGL):c.3411T>A (p.Pro1137=)
|
rs1185628017
|
|
NM_000642.3(AGL):c.3414T>C (p.Asn1138=)
|
|
|
NM_000642.3(AGL):c.3444C>T (p.Tyr1148=)
|
|
|
NM_000642.3(AGL):c.344T>C (p.Val115Ala)
|
rs567992352
|
|
NM_000642.3(AGL):c.3459T>C (p.Ala1153=)
|
|
|
NM_000642.3(AGL):c.3474G>A (p.Leu1158=)
|
rs2100818347
|
|
NM_000642.3(AGL):c.3492C>T (p.Tyr1164=)
|
rs370202718
|
|
NM_000642.3(AGL):c.3510T>C (p.Asn1170=)
|
|
|
NM_000642.3(AGL):c.3519C>T (p.Asp1173=)
|
rs755972640
|
|
NM_000642.3(AGL):c.351T>C (p.Ala117=)
|
|
|
NM_000642.3(AGL):c.3525C>T (p.Leu1175=)
|
|
|
NM_000642.3(AGL):c.3543A>G (p.Arg1181=)
|
|
|
NM_000642.3(AGL):c.3579T>A (p.Ala1193=)
|
|
|
NM_000642.3(AGL):c.3579T>C (p.Ala1193=)
|
rs2100818821
|
|
NM_000642.3(AGL):c.3582C>T (p.Gly1194=)
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|
|
NM_000642.3(AGL):c.3588+14T>C
|
|
|
NM_000642.3(AGL):c.3588+18A>C
|
|
|
NM_000642.3(AGL):c.3588+19A>C
|
|
|
NM_000642.3(AGL):c.3588+20T>A
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|
|
NM_000642.3(AGL):c.3588+29_3588+36del
|
|
|
NM_000642.3(AGL):c.3588+8T>C
|
|
|
NM_000642.3(AGL):c.3589-13A>G
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|
|
NM_000642.3(AGL):c.3589-14T>C
|
rs886044920
|
|
NM_000642.3(AGL):c.3589-16A>C
|
|
|
NM_000642.3(AGL):c.3589-16A>G
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|
|
NM_000642.3(AGL):c.3589-18C>G
|
|
|
NM_000642.3(AGL):c.3589-20A>G
|
|
|
NM_000642.3(AGL):c.3589-7C>T
|
rs2100824673
|
|
NM_000642.3(AGL):c.3606A>G (p.Glu1202=)
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|
|
NM_000642.3(AGL):c.3609C>G (p.Val1203=)
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|
|
NM_000642.3(AGL):c.3609C>T (p.Val1203=)
|
|
|
NM_000642.3(AGL):c.3633C>T (p.His1211=)
|
rs755349696
|
|
NM_000642.3(AGL):c.3639G>A (p.Gln1213=)
|
rs1213904866
|
|
NM_000642.3(AGL):c.3648G>A (p.Gln1216=)
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|
|
NM_000642.3(AGL):c.3660G>A (p.Arg1220=)
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|
|
NM_000642.3(AGL):c.3666T>A (p.Ala1222=)
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|
|
NM_000642.3(AGL):c.3666T>C (p.Ala1222=)
|
rs1405081089
|
|
NM_000642.3(AGL):c.3669T>C (p.Gly1223=)
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|
|
NM_000642.3(AGL):c.366A>T (p.Leu122=)
|
rs1386596170
|
|
NM_000642.3(AGL):c.3681T>C (p.Asp1227=)
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|
|
NM_000642.3(AGL):c.3682C>A (p.Arg1228=)
|
rs113994131
|
|
NM_000642.3(AGL):c.369C>T (p.Pro123=)
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|
|
NM_000642.3(AGL):c.3700+12T>A
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|
|
NM_000642.3(AGL):c.3700+12T>C
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|
|
NM_000642.3(AGL):c.3700+15_3700+18del
|
rs1284709970
|
|
NM_000642.3(AGL):c.3700+9C>T
|
rs892325505
|
|
NM_000642.3(AGL):c.3701-10T>G
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|
|
NM_000642.3(AGL):c.3701-14_3701-10del
|
|
|
NM_000642.3(AGL):c.3701-15C>A
|
|
|
NM_000642.3(AGL):c.3701-5T>C
|
|
|
NM_000642.3(AGL):c.3701-5T>G
|
rs1057523410
|
|
NM_000642.3(AGL):c.3701-9G>T
|
|
|
NM_000642.3(AGL):c.3732A>G (p.Glu1244=)
|
|
|
NM_000642.3(AGL):c.3738A>C (p.Gly1246=)
|
rs780617757
|
|
NM_000642.3(AGL):c.3774A>G (p.Thr1258=)
|
rs369393783
|
|
NM_000642.3(AGL):c.3798T>C (p.Ser1266=)
|
|
|
NM_000642.3(AGL):c.3836+12G>A
|
|
|
NM_000642.3(AGL):c.3836+14T>C
|
|
|
NM_000642.3(AGL):c.3836+16T>C
|
|
|
NM_000642.3(AGL):c.3836+7T>G
|
|
|
NM_000642.3(AGL):c.3837-14T>A
|
|
|
NM_000642.3(AGL):c.3837-14T>G
|
|
|
NM_000642.3(AGL):c.3837-15G>T
|
|
|
NM_000642.3(AGL):c.3837-16C>A
|
rs200553466
|
|
NM_000642.3(AGL):c.3837-16C>T
|
|
|
NM_000642.3(AGL):c.3843G>T (p.Gly1281=)
|
|
|
NM_000642.3(AGL):c.3846T>C (p.Ser1282=)
|
|
|
NM_000642.3(AGL):c.384T>C (p.Thr128=)
|
rs1571227820
|
|
NM_000642.3(AGL):c.3858T>C (p.Ile1286=)
|
rs777733324
|
|
NM_000642.3(AGL):c.3879T>C (p.Ala1293=)
|
rs2100854464
|
|
NM_000642.3(AGL):c.3879T>G (p.Ala1293=)
|
|
|
NM_000642.3(AGL):c.3882T>A (p.Val1294=)
|
rs1570508414
|
|
NM_000642.3(AGL):c.3897A>G (p.Glu1299=)
|
|
|
NM_000642.3(AGL):c.3903C>A (p.Ser1301=)
|
rs2100854559
|
|
NM_000642.3(AGL):c.3921T>G (p.Pro1307=)
|
|
|
NM_000642.3(AGL):c.3924T>C (p.Tyr1308=)
|
rs142335994
|
|
NM_000642.3(AGL):c.3933C>T (p.Val1311=)
|
|
|
NM_000642.3(AGL):c.3936A>C (p.Thr1312=)
|
rs1239139705
|
|
NM_000642.3(AGL):c.3939A>G (p.Val1313=)
|
|
|
NM_000642.3(AGL):c.3949+12A>G
|
|
|
NM_000642.3(AGL):c.3949+13T>C
|
|
|
NM_000642.3(AGL):c.3949+20del
|
rs780077211
|
|
NM_000642.3(AGL):c.3949+8_3949+9del
|
|
|
NM_000642.3(AGL):c.3949+9G>A
|
rs2100854765
|
|
NM_000642.3(AGL):c.3950-13T>C
|
|
|
NM_000642.3(AGL):c.3950-15del
|
|
|
NM_000642.3(AGL):c.3950-17C>T
|
rs563757318
|
|
NM_000642.3(AGL):c.3950-8T>C
|
|
|
NM_000642.3(AGL):c.3969A>G (p.Ser1323=)
|
|
|
NM_000642.3(AGL):c.3975T>C (p.Asp1325=)
|
rs1384952800
|
|
NM_000642.3(AGL):c.3984C>T (p.Asn1328=)
|
rs1298964080
|
|
NM_000642.3(AGL):c.3985A>C (p.Arg1329=)
|
rs777095374
|
|
NM_000642.3(AGL):c.3999C>T (p.Asp1333=)
|
|
|
NM_000642.3(AGL):c.4002C>T (p.Asn1334=)
|
rs1654905839
|
|
NM_000642.3(AGL):c.4014A>G (p.Leu1338=)
|
rs939205432
|
|
NM_000642.3(AGL):c.402T>C (p.Ala134=)
|
|
|
NM_000642.3(AGL):c.4053G>A (p.Lys1351=)
|
rs1570511119
|
|
NM_000642.3(AGL):c.4083A>T (p.Ile1361=)
|
rs897156043
|
|
NM_000642.3(AGL):c.4092T>C (p.Asp1364=)
|
rs2100860095
|
|
NM_000642.3(AGL):c.409T>C (p.Leu137=)
|
|
|
NM_000642.3(AGL):c.4101A>G (p.Gly1367=)
|
rs1361270660
|
|
NM_000642.3(AGL):c.4113T>C (p.Pro1371=)
|
rs2100860295
|
|
NM_000642.3(AGL):c.4119T>C (p.Cys1373=)
|
rs1057521342
|
|
NM_000642.3(AGL):c.411G>A (p.Leu137=)
|
|
|
NM_000642.3(AGL):c.4131C>T (p.Leu1377=)
|
rs751505814
|
|
NM_000642.3(AGL):c.4134G>A (p.Arg1378=)
|
|
|
NM_000642.3(AGL):c.414A>G (p.Gly138=)
|
|
|
NM_000642.3(AGL):c.4152A>G (p.Ala1384=)
|
|
|
NM_000642.3(AGL):c.4161+10T>G
|
rs2100860698
|
|
NM_000642.3(AGL):c.4161+10dup
|
|
|
NM_000642.3(AGL):c.4161+11C>G
|
rs886038361
|
|
NM_000642.3(AGL):c.4161+12G>A
|
rs371422723
|
|
NM_000642.3(AGL):c.4161+12G>T
|
|
|
NM_000642.3(AGL):c.4161+13T>C
|
|
|
NM_000642.3(AGL):c.4161+15T>C
|
|
|
NM_000642.3(AGL):c.4161+18A>G
|
|
|
NM_000642.3(AGL):c.4161+18A>T
|
|
|
NM_000642.3(AGL):c.4162-10C>T
|
|
|
NM_000642.3(AGL):c.4162-11G>T
|
|
|
NM_000642.3(AGL):c.4162-12G>C
|
rs755337032
|
|
NM_000642.3(AGL):c.4162-15T>C
|
rs767424449
|
|
NM_000642.3(AGL):c.4162-18G>C
|
|
|
NM_000642.3(AGL):c.4162-20T>C
|
|
|
NM_000642.3(AGL):c.4164C>T (p.Ala1388=)
|
rs142809832
|
|
NM_000642.3(AGL):c.4173C>T (p.Leu1391=)
|
|
|
NM_000642.3(AGL):c.4176T>C (p.Phe1392=)
|
|
|
NM_000642.3(AGL):c.4182A>G (p.Thr1394=)
|
rs756382269
|
|
NM_000642.3(AGL):c.4189G>A (p.Ala1397Thr)
|
rs375755924
|
|
NM_000642.3(AGL):c.4197A>G (p.Lys1399=)
|
|
|
NM_000642.3(AGL):c.4209T>C (p.Ile1403=)
|
rs1553193234
|
|
NM_000642.3(AGL):c.4221A>G (p.Lys1407=)
|
rs1655045275
|
|
NM_000642.3(AGL):c.4222T>C (p.Leu1408=)
|
rs2100869019
|
|
NM_000642.3(AGL):c.4230T>A (p.Gly1410=)
|
|
|
NM_000642.3(AGL):c.4233C>T (p.Pro1411=)
|
|
|
NM_000642.3(AGL):c.4251A>G (p.Leu1417=)
|
|
|
NM_000642.3(AGL):c.4259+11A>G
|
|
|
NM_000642.3(AGL):c.4259+15A>G
|
|
|
NM_000642.3(AGL):c.4259+17G>A
|
rs374758994
|
|
NM_000642.3(AGL):c.4259+17G>C
|
|
|
NM_000642.3(AGL):c.4259+20T>C
|
rs2100869451
|
|
NM_000642.3(AGL):c.4259+8G>T
|
|
|
NM_000642.3(AGL):c.4260-10C>T
|
rs2100874342
|
|
NM_000642.3(AGL):c.4260-12A>T
|
|
|
NM_000642.3(AGL):c.4260-13A>G
|
|
|
NM_000642.3(AGL):c.4260-18A>G
|
|
|
NM_000642.3(AGL):c.4260-25_4260-15del
|
|
|
NM_000642.3(AGL):c.4260-4G>T
|
rs767426474
|
|
NM_000642.3(AGL):c.4260-9A>G
|
rs2100874357
|
|
NM_000642.3(AGL):c.4263T>C (p.Asp1421=)
|
rs200603266
|
|
NM_000642.3(AGL):c.4272C>T (p.Tyr1424=)
|
|
|
NM_000642.3(AGL):c.4290T>C (p.Asn1430=)
|
rs886038362
|
|
NM_000642.3(AGL):c.4302T>C (p.Asn1434=)
|
rs2100874746
|
|
NM_000642.3(AGL):c.4320T>C (p.Ala1440=)
|
|
|
NM_000642.3(AGL):c.4326T>C (p.Gly1442=)
|
|
|
NM_000642.3(AGL):c.4335T>C (p.Tyr1445=)
|
rs369635040
|
|
NM_000642.3(AGL):c.4344A>T (p.Gly1448=)
|
rs373302638
|
|
NM_000642.3(AGL):c.4347+12A>T
|
|
|
NM_000642.3(AGL):c.4347+13T>C
|
|
|
NM_000642.3(AGL):c.4347+16A>C
|
|
|
NM_000642.3(AGL):c.4348-15A>C
|
|
|
NM_000642.3(AGL):c.4348-17T>C
|
|
|
NM_000642.3(AGL):c.4348-7T>C
|
rs1328440937
|
|
NM_000642.3(AGL):c.4348-8T>G
|
|
|
NM_000642.3(AGL):c.4348-9C>G
|
|
|
NM_000642.3(AGL):c.4354C>T (p.Leu1452=)
|
|
|
NM_000642.3(AGL):c.4356G>C (p.Leu1452=)
|
|
|
NM_000642.3(AGL):c.4383A>T (p.Ala1461=)
|
|
|
NM_000642.3(AGL):c.4398C>T (p.Ser1466=)
|
rs865973751
|
|
NM_000642.3(AGL):c.4410C>T (p.Gly1470=)
|
rs2100876239
|
|
NM_000642.3(AGL):c.4422T>C (p.Thr1474=)
|
|
|
NM_000642.3(AGL):c.4431T>C (p.Thr1477=)
|
|
|
NM_000642.3(AGL):c.443G>A (p.Arg148Lys)
|
rs542885983
|
|
NM_000642.3(AGL):c.4449T>C (p.Asn1483=)
|
|
|
NM_000642.3(AGL):c.4452T>G (p.Val1484=)
|
rs1455489944
|
|
NM_000642.3(AGL):c.4455T>G (p.Leu1485=)
|
rs1297003611
|
|
NM_000642.3(AGL):c.4464T>C (p.His1488=)
|
rs2100876734
|
|
NM_000642.3(AGL):c.4473T>C (p.His1491=)
|
rs1553193527
|
|
NM_000642.3(AGL):c.4476T>G (p.Leu1492=)
|
rs1655148276
|
|
NM_000642.3(AGL):c.4481+15G>A
|
|
|
NM_000642.3(AGL):c.4481+19G>T
|
|
|
NM_000642.3(AGL):c.4481+8A>G
|
|
|
NM_000642.3(AGL):c.4482-13T>C
|
|
|
NM_000642.3(AGL):c.4482-16C>A
|
|
|
NM_000642.3(AGL):c.4482-16C>T
|
|
|
NM_000642.3(AGL):c.4482-18G>A
|
rs1057521645
|
|
NM_000642.3(AGL):c.4482-19T>C
|
rs370127763
|
|
NM_000642.3(AGL):c.4482-6A>G
|
|
|
NM_000642.3(AGL):c.4482-7C>T
|
|
|
NM_000642.3(AGL):c.4488T>G (p.Pro1496=)
|
rs1570526626
|
|
NM_000642.3(AGL):c.4503A>G (p.Pro1501=)
|
rs2100901557
|
|
NM_000642.3(AGL):c.450A>G (p.Ala150=)
|
|
|
NM_000642.3(AGL):c.4512C>G (p.Thr1504=)
|
|
|
NM_000642.3(AGL):c.4521T>C (p.Asn1507=)
|
rs2100901683
|
|
NM_000642.3(AGL):c.4524C>T (p.Ala1508=)
|
|
|
NM_000642.3(AGL):c.4572T>G (p.Thr1524=)
|
rs1322602688
|
|
NM_000642.3(AGL):c.4578T>G (p.Leu1526=)
|
rs2100902191
|
|
NM_000642.3(AGL):c.4596A>G (p.Leu1532=)
|
|
|
NM_000642.3(AGL):c.460+10G>T
|
|
|
NM_000642.3(AGL):c.460+14G>A
|
|
|
NM_000642.3(AGL):c.460+15C>T
|
|
|
NM_000642.3(AGL):c.460+16T>A
|
|
|
NM_000642.3(AGL):c.460+19_460+22del
|
|
|
NM_000642.3(AGL):c.460+22_460+27del
|
|
|
NM_000642.3(AGL):c.480T>C (p.Phe160=)
|
|
|
NM_000642.3(AGL):c.483C>A (p.Thr161=)
|
|
|
NM_000642.3(AGL):c.486A>G (p.Pro162=)
|
|
|
NM_000642.3(AGL):c.504A>G (p.Leu168=)
|
rs1650329484
|
|
NM_000642.3(AGL):c.513A>G (p.Ser171=)
|
rs1236821933
|
|
NM_000642.3(AGL):c.519C>T (p.Tyr173=)
|
|
|
NM_000642.3(AGL):c.51A>G (p.Lys17=)
|
|
|
NM_000642.3(AGL):c.52C>T (p.Leu18=)
|
rs2101053563
|
|
NM_000642.3(AGL):c.546T>C (p.Asn182=)
|
rs2101093890
|
|
NM_000642.3(AGL):c.54G>A (p.Leu18=)
|
|
|
NM_000642.3(AGL):c.555T>C (p.Phe185=)
|
rs751772979
|
|
NM_000642.3(AGL):c.570A>G (p.Arg190=)
|
|
|
NM_000642.3(AGL):c.573G>A (p.Lys191=)
|
|
|
NM_000642.3(AGL):c.588T>C (p.Asp196=)
|
|
|
NM_000642.3(AGL):c.591T>C (p.Val197=)
|
rs2101094054
|
|
NM_000642.3(AGL):c.594A>G (p.Gly198=)
|
rs2101094061
|
|
NM_000642.3(AGL):c.603G>A (p.Val201=)
|
rs1650338034
|
|
NM_000642.3(AGL):c.60G>A (p.Lys20=)
|
|
|
NM_000642.3(AGL):c.615A>G (p.Lys205=)
|
rs1571232440
|
|
NM_000642.3(AGL):c.621A>G (p.Glu207=)
|
rs910311069
|
|
NM_000642.3(AGL):c.627T>C (p.Asn209=)
|
|
|
NM_000642.3(AGL):c.639T>C (p.Ile213=)
|
rs2101094280
|
|
NM_000642.3(AGL):c.648T>G (p.Val216=)
|
rs765188709
|
|
NM_000642.3(AGL):c.657T>C (p.Asn219=)
|
|
|
NM_000642.3(AGL):c.664+13T>C
|
|
|
NM_000642.3(AGL):c.664+19G>A
|
rs2101094397
|
|
NM_000642.3(AGL):c.664+7G>A
|
rs1650347378
|
|
NM_000642.3(AGL):c.665-21_665-19del
|
rs2101111866
|
|
NM_000642.3(AGL):c.665-7C>T
|
rs765019524
|
|
NM_000642.3(AGL):c.66C>G (p.Leu22=)
|
rs1648915915
|
|
NM_000642.3(AGL):c.66C>T (p.Leu22=)
|
|
|
NM_000642.3(AGL):c.696A>G (p.Pro232=)
|
rs1369758611
|
|
NM_000642.3(AGL):c.6A>C (p.Gly2=)
|
|
|
NM_000642.3(AGL):c.6A>G (p.Gly2=)
|
|
|
NM_000642.3(AGL):c.726A>G (p.Pro242=)
|
|
|
NM_000642.3(AGL):c.729C>T (p.His243=)
|
rs2101112196
|
|
NM_000642.3(AGL):c.735A>G (p.Lys245=)
|
rs1296061982
|
|
NM_000642.3(AGL):c.738T>C (p.Pro246=)
|
rs2101112216
|
|
NM_000642.3(AGL):c.747C>G (p.Val249=)
|
|
|
NM_000642.3(AGL):c.783T>G (p.Val261=)
|
|
|
NM_000642.3(AGL):c.786A>G (p.Ala262=)
|
rs2101112430
|
|
NM_000642.3(AGL):c.82+11A>C
|
|
|
NM_000642.3(AGL):c.82+14T>G
|
|
|
NM_000642.3(AGL):c.82+16_82+20del
|
|
|
NM_000642.3(AGL):c.82+17T>C
|
|
|
NM_000642.3(AGL):c.82+20G>C
|
|
|
NM_000642.3(AGL):c.82+7A>G
|
|
|
NM_000642.3(AGL):c.82+8G>T
|
|
|
NM_000642.3(AGL):c.820T>C (p.Leu274=)
|
|
|
NM_000642.3(AGL):c.83-11T>G
|
|
|
NM_000642.3(AGL):c.83-13G>A
|
|
|
NM_000642.3(AGL):c.83-15G>A
|
|
|
NM_000642.3(AGL):c.83-17A>G
|
|
|
NM_000642.3(AGL):c.83-19del
|
rs1553183146
|
|
NM_000642.3(AGL):c.846+11A>G
|
|
|
NM_000642.3(AGL):c.846+19_846+20dup
|
|
|
NM_000642.3(AGL):c.846+7A>G
|
rs2101112714
|
|
NM_000642.3(AGL):c.846+9G>C
|
rs2101112725
|
|
NM_000642.3(AGL):c.847-11A>G
|
|
|
NM_000642.3(AGL):c.847-12G>A
|
|
|
NM_000642.3(AGL):c.847-15_847-14del
|
|
|
NM_000642.3(AGL):c.847-17C>A
|
|
|
NM_000642.3(AGL):c.847-8T>C
|
rs767909893
|
|
NM_000642.3(AGL):c.847-9A>G
|
rs2101113215
|
|
NM_000642.3(AGL):c.876T>A (p.Ile292=)
|
|
|
NM_000642.3(AGL):c.887T>G (p.Leu296Arg)
|
rs748142986
|
|
NM_000642.3(AGL):c.90_91delinsAT (p.Glu30_Leu31=)
|
rs2101084456
|
|
NM_000642.3(AGL):c.918C>T (p.Val306=)
|
rs1571243841
|
|
NM_000642.3(AGL):c.91C>T (p.Leu31=)
|
|
|
NM_000642.3(AGL):c.942A>G (p.Arg314=)
|
rs2101113635
|
|
NM_000642.3(AGL):c.954A>G (p.Thr318=)
|
rs1057523817
|
|
NM_000642.3(AGL):c.958+11C>G
|
|
|
NM_000642.3(AGL):c.958+11C>T
|
|
|
NM_000642.3(AGL):c.958+15C>T
|
|
|
NM_000642.3(AGL):c.958+18G>A
|
|
|
NM_000642.3(AGL):c.959-11C>A
|
rs1553185284
|
|
NM_000642.3(AGL):c.959-16C>T
|
|
|
NM_000642.3(AGL):c.959-19C>T
|
|
|
NM_000642.3(AGL):c.959-4T>G
|
rs1399258321
|
|
NM_000642.3(AGL):c.959-7_959-4del
|
|
|
NM_000642.3(AGL):c.959-8T>C
|
rs1651348613
|
|
NM_000642.3(AGL):c.959-8del
|
rs765359858
|
|
NM_000642.3(AGL):c.959-9T>G
|
|
|
NM_000642.3(AGL):c.967C>A (p.Arg323=)
|
|
|
NM_000642.3(AGL):c.975C>A (p.Thr325=)
|
|
|
NM_000642.3(AGL):c.975C>G (p.Thr325=)
|
|
|
NM_000891.3(KCNJ2):c.1005C>T (p.His335=)
|
rs2144377784
|
|
NM_000891.3(KCNJ2):c.102G>A (p.Lys34=)
|
rs1476737505
|
|
NM_000891.3(KCNJ2):c.1053C>T (p.Pro351=)
|
rs2144377840
|
|
NM_000891.3(KCNJ2):c.1056C>T (p.Asn352=)
|
rs1473243559
|
|
NM_000891.3(KCNJ2):c.1086A>G (p.Ala362=)
|
|
|
NM_000891.3(KCNJ2):c.1179A>G (p.Gly393=)
|
|
|
NM_000891.3(KCNJ2):c.1206G>T (p.Thr402=)
|
rs1279223538
|
|
NM_000891.3(KCNJ2):c.1215C>T (p.Asp405=)
|
rs863224374
|
|
NM_000891.3(KCNJ2):c.1248A>G (p.Leu416=)
|
|
|
NM_000891.3(KCNJ2):c.1254C>A (p.Pro418=)
|
|
|
NM_000891.3(KCNJ2):c.1254C>G (p.Pro418=)
|
rs748445140
|
|
NM_000891.3(KCNJ2):c.1260C>G (p.Pro420=)
|
rs1257779655
|
|
NM_000891.3(KCNJ2):c.126G>A (p.Gln42=)
|
rs2144376459
|
|
NM_000891.3(KCNJ2):c.186T>C (p.Gly62=)
|
rs2144376552
|
|
NM_000891.3(KCNJ2):c.18C>A (p.Thr6=)
|
rs2144376313
|
|
NM_000891.3(KCNJ2):c.207C>G (p.Leu69=)
|
rs1007358932
|
|
NM_000891.3(KCNJ2):c.207C>T (p.Leu69=)
|
|
|
NM_000891.3(KCNJ2):c.225G>T (p.Thr75=)
|
|
|
NM_000891.3(KCNJ2):c.234C>T (p.Asp78=)
|
|
|
NM_000891.3(KCNJ2):c.244C>A (p.Arg82=)
|
|
|
NM_000891.3(KCNJ2):c.246G>A (p.Arg82=)
|
|
|
NM_000891.3(KCNJ2):c.285A>T (p.Ser95=)
|
rs1388829981
|
|
NM_000891.3(KCNJ2):c.297T>C (p.Phe99=)
|
|
|
NM_000891.3(KCNJ2):c.306G>C (p.Val102=)
|
rs2144376790
|
|
NM_000891.3(KCNJ2):c.321T>C (p.Ala107=)
|
rs2074386434
|
|
NM_000891.3(KCNJ2):c.322C>T (p.Leu108=)
|
rs371331394
|
|
NM_000891.3(KCNJ2):c.324G>A (p.Leu108=)
|
rs900684102
|
|
NM_000891.3(KCNJ2):c.333G>A (p.Gly111=)
|
rs2144376829
|
|
NM_000891.3(KCNJ2):c.402C>T (p.Leu134=)
|
|
|
NM_000891.3(KCNJ2):c.417C>A (p.Thr139=)
|
|
|
NM_000891.3(KCNJ2):c.417C>T (p.Thr139=)
|
|
|
NM_000891.3(KCNJ2):c.426C>G (p.Thr142=)
|
|
|
NM_000891.3(KCNJ2):c.42A>G (p.Ser14=)
|
rs2144376348
|
|
NM_000891.3(KCNJ2):c.453G>C (p.Thr151=)
|
|
|
NM_000891.3(KCNJ2):c.489C>T (p.Phe163=)
|
|
|
NM_000891.3(KCNJ2):c.48A>G (p.Glu16=)
|
rs1470684052
|
|
NM_000891.3(KCNJ2):c.510C>T (p.Ile170=)
|
|
|
NM_000891.3(KCNJ2):c.531C>A (p.Gly177=)
|
|
|
NM_000891.3(KCNJ2):c.564G>A (p.Lys188=)
|
|
|
NM_000891.3(KCNJ2):c.585C>T (p.Phe195=)
|
|
|
NM_000891.3(KCNJ2):c.591C>T (p.His197=)
|
|
|
NM_000891.3(KCNJ2):c.615C>T (p.Asp205=)
|
rs767844416
|
|
NM_000891.3(KCNJ2):c.684A>C (p.Arg228=)
|
rs758144475
|
|
NM_000891.3(KCNJ2):c.690G>A (p.Gln230=)
|
rs2074388781
|
|
NM_000891.3(KCNJ2):c.696C>T (p.Leu232=)
|
|
|
NM_000891.3(KCNJ2):c.699A>G (p.Lys233=)
|
|
|
NM_000891.3(KCNJ2):c.6C>T (p.Gly2=)
|
|
|
NM_000891.3(KCNJ2):c.723G>A (p.Glu241=)
|
|
|
NM_000891.3(KCNJ2):c.762T>C (p.Phe254=)
|
|
|
NM_000891.3(KCNJ2):c.774C>T (p.Ile258=)
|
rs1057524125
|
|
NM_000891.3(KCNJ2):c.789G>C (p.Leu263=)
|
|
|
NM_000891.3(KCNJ2):c.792G>A (p.Val264=)
|
rs2144377441
|
|
NM_000891.3(KCNJ2):c.795C>T (p.Ser265=)
|
rs1381202025
|
|
NM_000891.3(KCNJ2):c.810C>T (p.Val270=)
|
rs1049263340
|
|
NM_000891.3(KCNJ2):c.828C>T (p.Asp276=)
|
|
|
NM_000891.3(KCNJ2):c.849T>C (p.Ser283=)
|
rs2074389639
|
|
NM_000891.3(KCNJ2):c.864C>T (p.Asp288=)
|
rs2144377560
|
|
NM_000891.3(KCNJ2):c.87C>A (p.Gly29=)
|
rs1027878057
|
|
NM_000891.3(KCNJ2):c.885G>A (p.Val295=)
|
|
|
NM_000891.3(KCNJ2):c.93G>A (p.Gly31=)
|
|
|
NM_000891.3(KCNJ2):c.993T>C (p.Phe331=)
|
|
|
NM_000891.3(KCNJ2):c.999G>A (p.Glu333=)
|
rs2144377764
|
|
NM_000925.4(PDHB):c.1008G>A (p.Lys336=)
|
rs751210948
|
|
NM_000925.4(PDHB):c.1035G>A (p.Gln345=)
|
rs987571203
|
|
NM_000925.4(PDHB):c.1053T>C (p.Phe351=)
|
|
|
NM_000925.4(PDHB):c.1065A>G (p.Lys355=)
|
|
|
NM_000925.4(PDHB):c.1068A>T (p.Thr356=)
|
|
|
NM_000925.4(PDHB):c.1074T>C (p.Asn358=)
|
|
|
NM_000925.4(PDHB):c.114T>C (p.Ala38=)
|
|
|
NM_000925.4(PDHB):c.135G>A (p.Glu45=)
|
|
|
NM_000925.4(PDHB):c.138G>A (p.Glu46=)
|
|
|
NM_000925.4(PDHB):c.141G>A (p.Leu47=)
|
|
|
NM_000925.4(PDHB):c.156G>A (p.Lys52=)
|
rs2107941218
|
|
NM_000925.4(PDHB):c.15T>A (p.Ser5=)
|
rs775907917
|
|
NM_000925.4(PDHB):c.15T>G (p.Ser5=)
|
|
|
NM_000925.4(PDHB):c.177A>G (p.Glu59=)
|
|
|
NM_000925.4(PDHB):c.183C>T (p.Ala61=)
|
rs1263419219
|
|
NM_000925.4(PDHB):c.198A>C (p.Ala66=)
|
|
|
NM_000925.4(PDHB):c.201C>T (p.Tyr67=)
|
|
|
NM_000925.4(PDHB):c.204+10A>C
|
|
|
NM_000925.4(PDHB):c.204+10A>G
|
|
|
NM_000925.4(PDHB):c.204+14A>G
|
|
|
NM_000925.4(PDHB):c.204+15T>G
|
|
|
NM_000925.4(PDHB):c.204+17A>G
|
|
|
NM_000925.4(PDHB):c.204+9A>G
|
|
|
NM_000925.4(PDHB):c.205-14A>T
|
|
|
NM_000925.4(PDHB):c.205-16C>A
|
|
|
NM_000925.4(PDHB):c.205-4G>T
|
rs2107941065
|
|
NM_000925.4(PDHB):c.205-6T>C
|
|
|
NM_000925.4(PDHB):c.205-8A>C
|
rs2107941071
|
|
NM_000925.4(PDHB):c.205-8A>G
|
|
|
NM_000925.4(PDHB):c.205-9T>C
|
rs1560188386
|
|
NM_000925.4(PDHB):c.237C>T (p.Asp79=)
|
|
|
NM_000925.4(PDHB):c.243G>A (p.Arg81=)
|
|
|
NM_000925.4(PDHB):c.249T>C (p.Ile83=)
|
rs886058779
|
|
NM_000925.4(PDHB):c.24G>A (p.Val8=)
|
rs776938446
|
|
NM_000925.4(PDHB):c.255T>C (p.Thr85=)
|
rs2107940972
|
|
NM_000925.4(PDHB):c.261A>T (p.Ile87=)
|
|
|
NM_000925.4(PDHB):c.267+16G>A
|
|
|
NM_000925.4(PDHB):c.267+19A>G
|
|
|
NM_000925.4(PDHB):c.267+8T>A
|
|
|
NM_000925.4(PDHB):c.268-16A>G
|
|
|
NM_000925.4(PDHB):c.268-7T>C
|
rs2107940828
|
|
NM_000925.4(PDHB):c.273C>T (p.Gly91=)
|
|
|
NM_000925.4(PDHB):c.27G>A (p.Arg9=)
|
|
|
NM_000925.4(PDHB):c.27G>C (p.Arg9=)
|
|
|
NM_000925.4(PDHB):c.27G>T (p.Arg9=)
|
rs1576959597
|
|
NM_000925.4(PDHB):c.303+12T>A
|
|
|
NM_000925.4(PDHB):c.303+13C>G
|
|
|
NM_000925.4(PDHB):c.303+9T>C
|
|
|
NM_000925.4(PDHB):c.304-10G>T
|
rs1349270970
|
|
NM_000925.4(PDHB):c.304-14T>A
|
|
|
NM_000925.4(PDHB):c.304-16G>A
|
|
|
NM_000925.4(PDHB):c.304-17C>T
|
|
|
NM_000925.4(PDHB):c.304-5T>C
|
rs2107939861
|
|
NM_000925.4(PDHB):c.304-8T>C
|
rs2107939867
|
|
NM_000925.4(PDHB):c.304-8dup
|
rs781682337
|
|
NM_000925.4(PDHB):c.304-9A>C
|
|
|
NM_000925.4(PDHB):c.306T>C (p.Ala102=)
|
rs2107939849
|
|
NM_000925.4(PDHB):c.309G>A (p.Gly103=)
|
rs773743155
|
|
NM_000925.4(PDHB):c.309G>T (p.Gly103=)
|
|
|
NM_000925.4(PDHB):c.30A>G (p.Arg10=)
|
rs2107943891
|
|
NM_000925.4(PDHB):c.315G>A (p.Arg105=)
|
|
|
NM_000925.4(PDHB):c.336C>T (p.Thr112=)
|
rs2107939787
|
|
NM_000925.4(PDHB):c.339C>T (p.Phe113=)
|
|
|
NM_000925.4(PDHB):c.33C>T (p.Pro11=)
|
rs771813233
|
|
NM_000925.4(PDHB):c.342T>C (p.Asn114=)
|
|
|
NM_000925.4(PDHB):c.375C>T (p.Asn125=)
|
|
|
NM_000925.4(PDHB):c.381T>C (p.Ala127=)
|
rs2062913707
|
|
NM_000925.4(PDHB):c.390C>G (p.Thr130=)
|
|
|
NM_000925.4(PDHB):c.396C>T (p.Tyr132=)
|
rs2107939689
|
|
NM_000925.4(PDHB):c.39G>A (p.Arg13=)
|
|
|
NM_000925.4(PDHB):c.39G>T (p.Arg13=)
|
|
|
NM_000925.4(PDHB):c.402T>G (p.Ser134=)
|
rs2107939677
|
|
NM_000925.4(PDHB):c.408C>T (p.Gly136=)
|
|
|
NM_000925.4(PDHB):c.411T>C (p.Leu137=)
|
|
|
NM_000925.4(PDHB):c.42+11G>A
|
|
|
NM_000925.4(PDHB):c.42+14C>G
|
|
|
NM_000925.4(PDHB):c.42+14C>T
|
|
|
NM_000925.4(PDHB):c.42+18G>A
|
|
|
NM_000925.4(PDHB):c.42+19C>T
|
|
|
NM_000925.4(PDHB):c.42+20C>G
|
|
|
NM_000925.4(PDHB):c.42+7A>G
|
rs2062944921
|
|
NM_000925.4(PDHB):c.42+9C>G
|
rs755756637
|
|
NM_000925.4(PDHB):c.42+9C>T
|
rs755756637
|
|
NM_000925.4(PDHB):c.43-11C>T
|
|
|
NM_000925.4(PDHB):c.43-7C>T
|
|
|
NM_000925.4(PDHB):c.438G>C (p.Gly146=)
|
rs1126551
|
|
NM_000925.4(PDHB):c.438G>T (p.Gly146=)
|
|
|
NM_000925.4(PDHB):c.441C>T (p.Pro147=)
|
|
|
NM_000925.4(PDHB):c.444T>C (p.Asn148=)
|
rs2107939589
|
|
NM_000925.4(PDHB):c.450C>T (p.Ala150=)
|
rs2107939582
|
|
NM_000925.4(PDHB):c.465T>C (p.Ala155=)
|
|
|
NM_000925.4(PDHB):c.474C>T (p.His158=)
|
|
|
NM_000925.4(PDHB):c.480G>A (p.Gln160=)
|
|
|
NM_000925.4(PDHB):c.483C>T (p.Cys161=)
|
|
|
NM_000925.4(PDHB):c.489T>C (p.Ala163=)
|
|
|
NM_000925.4(PDHB):c.519G>A (p.Lys173=)
|
|
|
NM_000925.4(PDHB):c.531C>T (p.Pro177=)
|
|
|
NM_000925.4(PDHB):c.549T>C (p.Ala183=)
|
rs2107939461
|
|
NM_000925.4(PDHB):c.570C>T (p.Ala190=)
|
|
|
NM_000925.4(PDHB):c.573T>C (p.Ile191=)
|
rs2107939438
|
|
NM_000925.4(PDHB):c.582C>T (p.Asn194=)
|
rs994015584
|
|
NM_000925.4(PDHB):c.589+11G>A
|
|
|
NM_000925.4(PDHB):c.589+14C>T
|
|
|
NM_000925.4(PDHB):c.589+7A>G
|
rs762964497
|
|
NM_000925.4(PDHB):c.589+8C>G
|
rs2107939394
|
|
NM_000925.4(PDHB):c.589+9A>C
|
|
|
NM_000925.4(PDHB):c.589+9A>G
|
rs2107939389
|
|
NM_000925.4(PDHB):c.590-11A>G
|
|
|
NM_000925.4(PDHB):c.590-11_590-10del
|
rs1179603141
|
|
NM_000925.4(PDHB):c.590-12T>A
|
|
|
NM_000925.4(PDHB):c.590-9G>A
|
|
|
NM_000925.4(PDHB):c.597G>A (p.Val199=)
|
|
|
NM_000925.4(PDHB):c.600A>G (p.Leu200=)
|
|
|
NM_000925.4(PDHB):c.621G>A (p.Gly207=)
|
rs2062908611
|
|
NM_000925.4(PDHB):c.627T>G (p.Pro209=)
|
|
|
NM_000925.4(PDHB):c.675T>A (p.Ile225=)
|
|
|
NM_000925.4(PDHB):c.696G>A (p.Arg232=)
|
rs2107938811
|
|
NM_000925.4(PDHB):c.6G>A (p.Ala2=)
|
rs1203148983
|
|
NM_000925.4(PDHB):c.6G>C (p.Ala2=)
|
|
|
NM_000925.4(PDHB):c.700+17A>T
|
rs754519817
|
|
NM_000925.4(PDHB):c.700+18T>C
|
|
|
NM_000925.4(PDHB):c.701-10C>G
|
|
|
NM_000925.4(PDHB):c.701-8G>A
|
rs370346593
|
|
NM_000925.4(PDHB):c.708T>C (p.His236=)
|
rs2107938396
|
|
NM_000925.4(PDHB):c.717G>C (p.Val239=)
|
rs1576956301
|
|
NM_000925.4(PDHB):c.730A>C (p.Arg244=)
|
|
|
NM_000925.4(PDHB):c.741C>T (p.Gly247=)
|
|
|
NM_000925.4(PDHB):c.768A>G (p.Leu256=)
|
rs2062903975
|
|
NM_000925.4(PDHB):c.78C>A (p.Thr26=)
|
|
|
NM_000925.4(PDHB):c.792+13T>C
|
|
|
NM_000925.4(PDHB):c.792+18T>C
|
|
|
NM_000925.4(PDHB):c.792+19_792+24del
|
|
|
NM_000925.4(PDHB):c.792+9A>G
|
rs762944918
|
|
NM_000925.4(PDHB):c.793-10_793-7dup
|
rs2062893900
|
|
NM_000925.4(PDHB):c.793-13A>G
|
|
|
NM_000925.4(PDHB):c.793-15A>G
|
|
|
NM_000925.4(PDHB):c.793-16T>C
|
|
|
NM_000925.4(PDHB):c.793-16T>G
|
|
|
NM_000925.4(PDHB):c.793-19_793-14del
|
rs759146810
|
|
NM_000925.4(PDHB):c.793-19_793-16del
|
|
|
NM_000925.4(PDHB):c.810C>T (p.Thr270=)
|
rs1444305170
|
|
NM_000925.4(PDHB):c.825C>T (p.Asp275=)
|
|
|
NM_000925.4(PDHB):c.840A>G (p.Glu280=)
|
|
|
NM_000925.4(PDHB):c.861T>C (p.Asn287=)
|
rs1237030552
|
|
NM_000925.4(PDHB):c.885C>G (p.Gly295=)
|
rs763844372
|
|
NM_000925.4(PDHB):c.906A>G (p.Gly302=)
|
|
|
NM_000925.4(PDHB):c.90G>A (p.Ala30=)
|
rs2107943592
|
|
NM_000925.4(PDHB):c.927C>T (p.Ile309=)
|
|
|
NM_000925.4(PDHB):c.934+11G>T
|
|
|
NM_000925.4(PDHB):c.935-14CTTC[3]
|
|
|
NM_000925.4(PDHB):c.935-17A>G
|
|
|
NM_000925.4(PDHB):c.935-17del
|
|
|
NM_000925.4(PDHB):c.935-4C>T
|
|
|
NM_000925.4(PDHB):c.935-5C>A
|
rs1418680590
|
|
NM_000925.4(PDHB):c.935-5C>G
|
rs1418680590
|
|
NM_000925.4(PDHB):c.935-5C>T
|
rs1418680590
|
|
NM_000925.4(PDHB):c.935-7C>T
|
rs2107936427
|
|
NM_000925.4(PDHB):c.935-9T>C
|
rs935875454
|
|
NM_000925.4(PDHB):c.939T>C (p.Pro313=)
|
rs1576955073
|
|
NM_000925.4(PDHB):c.93G>A (p.Leu31=)
|
|
|
NM_000925.4(PDHB):c.951C>T (p.Phe317=)
|
|
|
NM_000925.4(PDHB):c.952C>T (p.Leu318=)
|
|
|
NM_000925.4(PDHB):c.954G>C (p.Leu318=)
|
rs1576955034
|
|
NM_000925.4(PDHB):c.954G>T (p.Leu318=)
|
rs1576955034
|
|
NM_000925.4(PDHB):c.96+10G>C
|
rs755528489
|
|
NM_000925.4(PDHB):c.96+12G>A
|
rs773433623
|
|
NM_000925.4(PDHB):c.96+12G>C
|
rs773433623
|
|
NM_000925.4(PDHB):c.96+13G>A
|
|
|
NM_000925.4(PDHB):c.96+13G>T
|
|
|
NM_000925.4(PDHB):c.96+14G>T
|
|
|
NM_000925.4(PDHB):c.96+17C>T
|
|
|
NM_000925.4(PDHB):c.96+19C>G
|
|
|
NM_000925.4(PDHB):c.96+19C>T
|
|
|
NM_000925.4(PDHB):c.96+8G>T
|
rs2062943444
|
|
NM_000925.4(PDHB):c.96+9C>G
|
|
|
NM_000925.4(PDHB):c.97-10C>T
|
rs2107941338
|
|
NM_000925.4(PDHB):c.97-13A>G
|
|
|
NM_000925.4(PDHB):c.97-4A>T
|
rs2107941318
|
|
NM_000925.4(PDHB):c.97-7G>C
|
rs2107941329
|
|
NM_000925.4(PDHB):c.97-8T>C
|
|
|
NM_000925.4(PDHB):c.975C>T (p.Val325=)
|
|
|
NM_000925.4(PDHB):c.984T>C (p.Ala328=)
|
|
|
NM_000925.4(PDHB):c.990C>T (p.Val330=)
|
rs267599918
|
|
NM_000925.4(PDHB):c.99G>A (p.Val33=)
|
rs2107941297
|
|
NM_000925.4(PDHB):c.99G>T (p.Val33=)
|
|
|
NM_000925.4(PDHB):c.9G>T (p.Ala3=)
|
|
|
NM_001008216.2(GALE):c.1014G>A (p.Lys338=)
|
|
|
NM_001008216.2(GALE):c.102C>T (p.Asn34=)
|
|
|
NM_001008216.2(GALE):c.1038G>A (p.Thr346=)
|
|
|
NM_001008216.2(GALE):c.114C>T (p.Ala38=)
|
|
|
NM_001008216.2(GALE):c.121+10G>A
|
|
|
NM_001008216.2(GALE):c.121+11C>T
|
|
|
NM_001008216.2(GALE):c.121+16G>T
|
|
|
NM_001008216.2(GALE):c.121+18G>T
|
|
|
NM_001008216.2(GALE):c.121+7G>A
|
|
|
NM_001008216.2(GALE):c.122-13T>C
|
|
|
NM_001008216.2(GALE):c.122-14A>C
|
|
|
NM_001008216.2(GALE):c.122-14A>G
|
|
|
NM_001008216.2(GALE):c.122-18C>T
|
|
|
NM_001008216.2(GALE):c.122-19C>T
|
|
|
NM_001008216.2(GALE):c.122-20G>A
|
|
|
NM_001008216.2(GALE):c.122-20G>T
|
|
|
NM_001008216.2(GALE):c.122-4C>T
|
|
|
NM_001008216.2(GALE):c.122-7del
|
|
|
NM_001008216.2(GALE):c.132C>T (p.Ser44=)
|
|
|
NM_001008216.2(GALE):c.138T>C (p.Pro46=)
|
|
|
NM_001008216.2(GALE):c.138T>G (p.Pro46=)
|
|
|
NM_001008216.2(GALE):c.144C>T (p.Ser48=)
|
|
|
NM_001008216.2(GALE):c.147G>A (p.Leu49=)
|
|
|
NM_001008216.2(GALE):c.147G>C (p.Leu49=)
|
|
|
NM_001008216.2(GALE):c.150G>A (p.Arg50=)
|
|
|
NM_001008216.2(GALE):c.153G>A (p.Arg51=)
|
|
|
NM_001008216.2(GALE):c.156C>T (p.Val52=)
|
|
|
NM_001008216.2(GALE):c.180G>T (p.Val60=)
|
|
|
NM_001008216.2(GALE):c.189G>A (p.Glu63=)
|
|
|
NM_001008216.2(GALE):c.207C>T (p.Asp69=)
|
|
|
NM_001008216.2(GALE):c.217C>T (p.Leu73=)
|
|
|
NM_001008216.2(GALE):c.231C>T (p.Phe77=)
|
|
|
NM_001008216.2(GALE):c.237+19C>A
|
rs774395385
|
|
NM_001008216.2(GALE):c.237+19C>T
|
|
|
NM_001008216.2(GALE):c.238-16C>T
|
|
|
NM_001008216.2(GALE):c.238-17C>T
|
|
|
NM_001008216.2(GALE):c.238-20T>C
|
|
|
NM_001008216.2(GALE):c.238-6C>G
|
|
|
NM_001008216.2(GALE):c.252G>A (p.Ala84=)
|
|
|
NM_001008216.2(GALE):c.266C>T (p.Ala89Val)
|
|
|
NM_001008216.2(GALE):c.270G>A (p.Gly90=)
|
|
|
NM_001008216.2(GALE):c.273C>G (p.Leu91=)
|
|
|
NM_001008216.2(GALE):c.279C>T (p.Ala93=)
|
|
|
NM_001008216.2(GALE):c.285C>T (p.Gly95=)
|
|
|
NM_001008216.2(GALE):c.288G>A (p.Glu96=)
|
|
|
NM_001008216.2(GALE):c.300G>A (p.Lys100=)
|
|
|
NM_001008216.2(GALE):c.324C>T (p.Asn108=)
|
|
|
NM_001008216.2(GALE):c.330C>T (p.Thr110=)
|
rs377557637
|
|
NM_001008216.2(GALE):c.345T>A (p.Leu115=)
|
|
|
NM_001008216.2(GALE):c.351+16C>A
|
|
|
NM_001008216.2(GALE):c.351+17A>G
|
|
|
NM_001008216.2(GALE):c.351+17_351+18del
|
|
|
NM_001008216.2(GALE):c.352-16A>G
|
|
|
NM_001008216.2(GALE):c.352-19G>A
|
|
|
NM_001008216.2(GALE):c.352-4C>T
|
|
|
NM_001008216.2(GALE):c.352-9C>T
|
|
|
NM_001008216.2(GALE):c.366C>T (p.His122=)
|
|
|
NM_001008216.2(GALE):c.369G>C (p.Gly123=)
|
|
|
NM_001008216.2(GALE):c.384G>A (p.Val128=)
|
|
|
NM_001008216.2(GALE):c.399C>G (p.Ala133=)
|
|
|
NM_001008216.2(GALE):c.402T>C (p.Thr134=)
|
|
|
NM_001008216.2(GALE):c.426G>A (p.Leu142=)
|
|
|
NM_001008216.2(GALE):c.435T>C (p.Asp145=)
|
|
|
NM_001008216.2(GALE):c.450G>A (p.Thr150=)
|
rs566884215
|
|
NM_001008216.2(GALE):c.450G>T (p.Thr150=)
|
|
|
NM_001008216.2(GALE):c.456T>C (p.Gly152=)
|
|
|
NM_001008216.2(GALE):c.459T>C (p.Cys153=)
|
|
|
NM_001008216.2(GALE):c.471C>T (p.Tyr157=)
|
|
|
NM_001008216.2(GALE):c.477G>A (p.Lys159=)
|
|
|
NM_001008216.2(GALE):c.486C>T (p.Phe162=)
|
|
|
NM_001008216.2(GALE):c.504C>A (p.Ile168=)
|
|
|
NM_001008216.2(GALE):c.505C>A (p.Arg169=)
|
|
|
NM_001008216.2(GALE):c.510C>T (p.Asp170=)
|
|
|
NM_001008216.2(GALE):c.51C>T (p.His17=)
|
|
|
NM_001008216.2(GALE):c.528+18A>G
|
|
|
NM_001008216.2(GALE):c.528+19G>A
|
|
|
NM_001008216.2(GALE):c.528+8C>G
|
|
|
NM_001008216.2(GALE):c.528+8C>T
|
|
|
NM_001008216.2(GALE):c.529-10C>T
|
|
|
NM_001008216.2(GALE):c.529-11A>G
|
|
|
NM_001008216.2(GALE):c.529-17T>C
|
|
|
NM_001008216.2(GALE):c.529-18C>G
|
|
|
NM_001008216.2(GALE):c.529-5C>T
|
|
|
NM_001008216.2(GALE):c.529-6C>T
|
|
|
NM_001008216.2(GALE):c.529-8T>A
|
|
|
NM_001008216.2(GALE):c.531T>C (p.Thr177=)
|
|
|
NM_001008216.2(GALE):c.537C>T (p.Asn179=)
|
|
|
NM_001008216.2(GALE):c.54G>A (p.Thr18=)
|
|
|
NM_001008216.2(GALE):c.54G>C (p.Thr18=)
|
|
|
NM_001008216.2(GALE):c.54G>T (p.Thr18=)
|
|
|
NM_001008216.2(GALE):c.552C>G (p.Arg184=)
|
|
|
NM_001008216.2(GALE):c.573C>T (p.Ala191=)
|
|
|
NM_001008216.2(GALE):c.579C>A (p.Ala193=)
|
|
|
NM_001008216.2(GALE):c.588C>T (p.Cys196=)
|
|
|
NM_001008216.2(GALE):c.609C>T (p.Gly203=)
|
|
|
NM_001008216.2(GALE):c.621C>T (p.Asn207=)
|
|
|
NM_001008216.2(GALE):c.636C>A (p.Val212=)
|
|
|
NM_001008216.2(GALE):c.63G>A (p.Glu21=)
|
|
|
NM_001008216.2(GALE):c.642+11A>G
|
|
|
NM_001008216.2(GALE):c.642+16A>G
|
|
|
NM_001008216.2(GALE):c.642+18G>A
|
|
|
NM_001008216.2(GALE):c.642+7C>T
|
|
|
NM_001008216.2(GALE):c.643-10C>T
|
|
|
NM_001008216.2(GALE):c.643-15G>C
|
|
|
NM_001008216.2(GALE):c.643-17C>T
|
|
|
NM_001008216.2(GALE):c.643-19A>G
|
|
|
NM_001008216.2(GALE):c.643-5T>A
|
|
|
NM_001008216.2(GALE):c.643-6C>T
|
|
|
NM_001008216.2(GALE):c.651C>T (p.Ile217=)
|
|
|
NM_001008216.2(GALE):c.660G>C (p.Arg220=)
|
|
|
NM_001008216.2(GALE):c.69G>A (p.Leu23=)
|
|
|
NM_001008216.2(GALE):c.709+14C>T
|
|
|
NM_001008216.2(GALE):c.709+15del
|
rs1196635557
|
|
NM_001008216.2(GALE):c.709+16G>C
|
|
|
NM_001008216.2(GALE):c.709+7C>G
|
|
|
NM_001008216.2(GALE):c.710-12C>T
|
|
|
NM_001008216.2(GALE):c.710-16A>G
|
|
|
NM_001008216.2(GALE):c.710-18A>G
|
|
|
NM_001008216.2(GALE):c.710-19C>T
|
|
|
NM_001008216.2(GALE):c.720T>C (p.Asp240=)
|
|
|
NM_001008216.2(GALE):c.732C>G (p.Val244=)
|
|
|
NM_001008216.2(GALE):c.732C>T (p.Val244=)
|
|
|
NM_001008216.2(GALE):c.735G>C (p.Val245=)
|
|
|
NM_001008216.2(GALE):c.744C>T (p.Ala248=)
|
|
|
NM_001008216.2(GALE):c.795+12A>G
|
|
|
NM_001008216.2(GALE):c.795+13G>A
|
|
|
NM_001008216.2(GALE):c.795+13G>C
|
|
|
NM_001008216.2(GALE):c.795+14_795+15del
|
|
|
NM_001008216.2(GALE):c.795+16A>G
|
|
|
NM_001008216.2(GALE):c.795+20G>T
|
|
|
NM_001008216.2(GALE):c.795+7A>C
|
rs755752373
|
|
NM_001008216.2(GALE):c.795+9A>C
|
|
|
NM_001008216.2(GALE):c.805C>T (p.Leu269=)
|
|
|
NM_001008216.2(GALE):c.813G>A (p.Thr271=)
|
|
|
NM_001008216.2(GALE):c.822C>T (p.Gly274=)
|
|
|
NM_001008216.2(GALE):c.843C>G (p.Val281=)
|
|
|
NM_001008216.2(GALE):c.843C>T (p.Val281=)
|
|
|
NM_001008216.2(GALE):c.846G>A (p.Gln282=)
|
|
|
NM_001008216.2(GALE):c.84G>A (p.Leu28=)
|
|
|
NM_001008216.2(GALE):c.855G>A (p.Glu285=)
|
|
|
NM_001008216.2(GALE):c.873+12C>G
|
|
|
NM_001008216.2(GALE):c.873+14_873+15insCA
|
|
|
NM_001008216.2(GALE):c.873+18A>G
|
|
|
NM_001008216.2(GALE):c.873+7C>T
|
rs746500876
|
|
NM_001008216.2(GALE):c.874-14C>T
|
|
|
NM_001008216.2(GALE):c.874-15C>T
|
|
|
NM_001008216.2(GALE):c.874-18C>T
|
|
|
NM_001008216.2(GALE):c.874-19A>G
|
|
|
NM_001008216.2(GALE):c.874-9G>C
|
|
|
NM_001008216.2(GALE):c.879G>C (p.Pro293=)
|
rs142332521
|
|
NM_001008216.2(GALE):c.87T>C (p.Pro29=)
|
|
|
NM_001008216.2(GALE):c.894A>G (p.Ala298=)
|
|
|
NM_001008216.2(GALE):c.90G>A (p.Val30=)
|
|
|
NM_001008216.2(GALE):c.936C>T (p.Ser312=)
|
rs1570629036
|
|
NM_001008216.2(GALE):c.951G>A (p.Glu317=)
|
|
|
NM_001008216.2(GALE):c.957G>A (p.Gly319=)
|
|
|
NM_001008216.2(GALE):c.96C>T (p.Ile32=)
|
|
|
NM_001008216.2(GALE):c.978G>A (p.Leu326=)
|
|
|
NM_001008216.2(GALE):c.988+11G>T
|
|
|
NM_001008216.2(GALE):c.988+12C>T
|
|
|
NM_001008216.2(GALE):c.988+14T>C
|
|
|
NM_001008216.2(GALE):c.988+17C>T
|
|
|
NM_001008216.2(GALE):c.988+19C>T
|
|
|
NM_001008216.2(GALE):c.989-10C>T
|
|
|
NM_001008216.2(GALE):c.989-11C>T
|
|
|
NM_001008216.2(GALE):c.989-12G>A
|
|
|
NM_001008216.2(GALE):c.989-13C>T
|
rs199622680
|
|
NM_001008216.2(GALE):c.989-16C>T
|
|
|
NM_001008216.2(GALE):c.989-18C>T
|
|
|
NM_001008216.2(GALE):c.989-19A>T
|
|
|
NM_001008216.2(GALE):c.989-20C>T
|
|
|
NM_001008216.2(GALE):c.989-7G>A
|
|
|
NM_001008216.2(GALE):c.989-8T>C
|
|
|
NM_001008216.2(GALE):c.989-8del
|
|
|
NM_001008216.2(GALE):c.989-9G>A
|
|
|
NM_001008216.2(GALE):c.993G>A (p.Glu331=)
|
|
|
NM_001008216.2(GALE):c.996T>C (p.Asp332=)
|
|
|
NM_001008216.2(GALE):c.999C>G (p.Leu333=)
|
|
|
NM_001008216.2(GALE):c.9G>A (p.Glu3=)
|
|
|
NM_001014436.3(DBNL):c.*2022G>A
|
|
|
NM_001014436.3(DBNL):c.*2031A>G
|
|
|
NM_001014436.3(DBNL):c.*3899C>T
|
|
|
NM_001014436.3(DBNL):c.*4100G>A
|
|
|
NM_001014436.3(DBNL):c.*4101G>A
|
rs2128796345
|
|
NM_001014436.3(DBNL):c.*4108A>C
|
|
|
NM_001014436.3(DBNL):c.*4191G>A
|
|
|
NM_001039770.3(TMPPE):c.-381G>A
|
|
|
NM_001039770.3(TMPPE):c.-382G>A
|
|
|
NM_001039770.3(TMPPE):c.-385C>T
|
|
|
NM_001039770.3(TMPPE):c.-392G>A
|
rs2125591459
|
|
NM_001039770.3(TMPPE):c.-393del
|
|
|
NM_001039770.3(TMPPE):c.-394C>G
|
rs2125591464
|
|
NM_001040716.2(PC):c.1002G>C (p.Thr334=)
|
rs778602769
|
|
NM_001040716.2(PC):c.1020C>T (p.Thr340=)
|
rs201344655
|
|
NM_001040716.2(PC):c.1022+13G>A
|
|
|
NM_001040716.2(PC):c.1022+15G>T
|
|
|
NM_001040716.2(PC):c.1022+16_1022+28del
|
|
|
NM_001040716.2(PC):c.1022+20C>T
|
|
|
NM_001040716.2(PC):c.1023-13C>A
|
|
|
NM_001040716.2(PC):c.1023-13C>T
|
|
|
NM_001040716.2(PC):c.1023-14C>A
|
rs111858832
|
|
NM_001040716.2(PC):c.1023-14C>T
|
|
|
NM_001040716.2(PC):c.1023-14_1023-6del
|
rs2135917623
|
|
NM_001040716.2(PC):c.1023-15C>G
|
|
|
NM_001040716.2(PC):c.1023-5T>G
|
|
|
NM_001040716.2(PC):c.1032G>A (p.Leu344=)
|
|
|
NM_001040716.2(PC):c.1038T>C (p.His346=)
|
rs2135917465
|
|
NM_001040716.2(PC):c.1050C>T (p.His350=)
|
rs770612085
|
|
NM_001040716.2(PC):c.105G>A (p.Lys35=)
|
|
|
NM_001040716.2(PC):c.1072C>T (p.Pro358Ser)
|
|
|
NM_001040716.2(PC):c.1075G>A (p.Asp359Asn)
|
rs780215837
|
|
NM_001040716.2(PC):c.1089G>A (p.Arg363=)
|
|
|
NM_001040716.2(PC):c.1095G>A (p.Glu365=)
|
|
|
NM_001040716.2(PC):c.1104C>T (p.Arg368=)
|
|
|
NM_001040716.2(PC):c.111C>A (p.Ile37=)
|
|
|
NM_001040716.2(PC):c.111C>T (p.Ile37=)
|
|
|
NM_001040716.2(PC):c.112A>C (p.Lys38Gln)
|
|
|
NM_001040716.2(PC):c.1131G>A (p.Arg377=)
|
|
|
NM_001040716.2(PC):c.1131G>T (p.Arg377=)
|
rs1387922807
|
|
NM_001040716.2(PC):c.1146C>T (p.Asp382=)
|
rs958449027
|
|
NM_001040716.2(PC):c.1149C>G (p.Pro383=)
|
|
|
NM_001040716.2(PC):c.1151C>T (p.Ala384Val)
|
|
|
NM_001040716.2(PC):c.1167G>C (p.Pro389=)
|
rs556534486
|
|
NM_001040716.2(PC):c.1170C>T (p.Asp390=)
|
|
|
NM_001040716.2(PC):c.1185+14G>C
|
|
|
NM_001040716.2(PC):c.1186-10C>G
|
|
|
NM_001040716.2(PC):c.1186-12C>A
|
|
|
NM_001040716.2(PC):c.1186-18G>A
|
|
|
NM_001040716.2(PC):c.1186-5C>T
|
|
|
NM_001040716.2(PC):c.1186-5del
|
|
|
NM_001040716.2(PC):c.1186-8T>A
|
|
|
NM_001040716.2(PC):c.1188G>T (p.Val396=)
|
|
|
NM_001040716.2(PC):c.1194G>C (p.Arg398=)
|
|
|
NM_001040716.2(PC):c.1219C>T (p.Leu407=)
|
|
|
NM_001040716.2(PC):c.1236C>T (p.Ala412=)
|
|
|
NM_001040716.2(PC):c.1249G>A (p.Val417Ile)
|
|
|
NM_001040716.2(PC):c.1251C>T (p.Val417=)
|
|
|
NM_001040716.2(PC):c.1257G>C (p.Ser419=)
|
|
|
NM_001040716.2(PC):c.1293C>A (p.Ala431=)
|
|
|
NM_001040716.2(PC):c.1308C>T (p.His436=)
|
rs776517996
|
|
NM_001040716.2(PC):c.1313C>T (p.Thr438Met)
|
|
|
NM_001040716.2(PC):c.1314G>A (p.Thr438=)
|
rs199877852
|
|
NM_001040716.2(PC):c.1323C>A (p.Thr441=)
|
rs2135903937
|
|
NM_001040716.2(PC):c.1326G>A (p.Lys442=)
|
rs1458972426
|
|
NM_001040716.2(PC):c.1335G>A (p.Arg445=)
|
|
|
NM_001040716.2(PC):c.1338C>T (p.Ala446=)
|
rs2135903866
|
|
NM_001040716.2(PC):c.1341T>C (p.Leu447=)
|
rs1272780127
|
|
NM_001040716.2(PC):c.1343C>T (p.Ala448Val)
|
|
|
NM_001040716.2(PC):c.1344G>T (p.Ala448=)
|
|
|
NM_001040716.2(PC):c.1353C>A (p.Arg451=)
|
rs542353629
|
|
NM_001040716.2(PC):c.136+11G>T
|
|
|
NM_001040716.2(PC):c.136+12T>G
|
rs201652131
|
|
NM_001040716.2(PC):c.136+18C>T
|
|
|
NM_001040716.2(PC):c.136+18del
|
|
|
NM_001040716.2(PC):c.136+19G>A
|
|
|
NM_001040716.2(PC):c.136+8C>G
|
rs944736105
|
|
NM_001040716.2(PC):c.136+9C>G
|
rs749948216
|
|
NM_001040716.2(PC):c.1368+14G>A
|
|
|
NM_001040716.2(PC):c.1368+17C>G
|
|
|
NM_001040716.2(PC):c.1368+17C>T
|
|
|
NM_001040716.2(PC):c.1368+19C>T
|
|
|
NM_001040716.2(PC):c.1368+20G>A
|
|
|
NM_001040716.2(PC):c.1368+20G>T
|
|
|
NM_001040716.2(PC):c.1368+20del
|
|
|
NM_001040716.2(PC):c.1368+7G>C
|
rs2135903631
|
|
NM_001040716.2(PC):c.1369-15G>A
|
|
|
NM_001040716.2(PC):c.1369-16C>T
|
|
|
NM_001040716.2(PC):c.1369-17C>T
|
|
|
NM_001040716.2(PC):c.1369-20C>T
|
|
|
NM_001040716.2(PC):c.1369-4G>A
|
rs2135822186
|
|
NM_001040716.2(PC):c.1369-5T>C
|
rs2135822203
|
|
NM_001040716.2(PC):c.1369-6C>T
|
rs1591127516
|
|
NM_001040716.2(PC):c.1369-7C>T
|
rs2135822235
|
|
NM_001040716.2(PC):c.1369-9G>A
|
rs2135822255
|
|
NM_001040716.2(PC):c.137-12T>C
|
|
|
NM_001040716.2(PC):c.137-13C>T
|
|
|
NM_001040716.2(PC):c.137-4C>T
|
|
|
NM_001040716.2(PC):c.137-5T>A
|
|
|
NM_001040716.2(PC):c.137-5T>G
|
|
|
NM_001040716.2(PC):c.137-6C>T
|
rs779304016
|
|
NM_001040716.2(PC):c.1383C>T (p.Phe461=)
|
|
|
NM_001040716.2(PC):c.1395G>A (p.Val465=)
|
|
|
NM_001040716.2(PC):c.1395G>T (p.Val465=)
|
rs1945622051
|
|
NM_001040716.2(PC):c.1413C>T (p.Phe471=)
|
|
|
NM_001040716.2(PC):c.1458G>A (p.Glu486=)
|
rs2135821279
|
|
NM_001040716.2(PC):c.1470G>A (p.Leu490=)
|
|
|
NM_001040716.2(PC):c.1476T>C (p.Pro492=)
|
rs1281726180
|
|
NM_001040716.2(PC):c.1479A>C (p.Ala493=)
|
|
|
NM_001040716.2(PC):c.1479A>G (p.Ala493=)
|
rs2135821105
|
|
NM_001040716.2(PC):c.147C>T (p.Ala49=)
|
|
|
NM_001040716.2(PC):c.1497G>A (p.Lys499=)
|
|
|
NM_001040716.2(PC):c.1509C>T (p.Tyr503=)
|
|
|
NM_001040716.2(PC):c.150C>A (p.Ile50=)
|
|
|
NM_001040716.2(PC):c.1513+10G>C
|
rs200660481
|
|
NM_001040716.2(PC):c.1513+15T>C
|
|
|
NM_001040716.2(PC):c.1513+17C>T
|
|
|
NM_001040716.2(PC):c.1513+18C>T
|
|
|
NM_001040716.2(PC):c.1513+9C>T
|
rs45580638
|
|
NM_001040716.2(PC):c.1514-12C>T
|
|
|
NM_001040716.2(PC):c.1514-13G>C
|
|
|
NM_001040716.2(PC):c.1514-14C>T
|
|
|
NM_001040716.2(PC):c.1514-15C>T
|
|
|
NM_001040716.2(PC):c.1514-7T>A
|
|
|
NM_001040716.2(PC):c.1514-8C>T
|
rs779743894
|
|
NM_001040716.2(PC):c.1527A>G (p.Val509=)
|
|
|
NM_001040716.2(PC):c.1539C>T (p.Thr513=)
|
rs1251522964
|
|
NM_001040716.2(PC):c.1542C>T (p.Thr514=)
|
rs2135817170
|
|
NM_001040716.2(PC):c.1560C>A (p.Ala520=)
|
rs1591125381
|
|
NM_001040716.2(PC):c.1563C>T (p.Ser521=)
|
|
|
NM_001040716.2(PC):c.156G>A (p.Val52=)
|
|
|
NM_001040716.2(PC):c.1574C>T (p.Thr525Met)
|
|
|
NM_001040716.2(PC):c.1575G>T (p.Thr525=)
|
rs143833575
|
|
NM_001040716.2(PC):c.1581C>G (p.Pro527=)
|
rs570919766
|
|
NM_001040716.2(PC):c.1582G>A (p.Val528Ile)
|
|
|
NM_001040716.2(PC):c.1584T>C (p.Val528=)
|
|
|
NM_001040716.2(PC):c.1596G>A (p.Val532=)
|
|
|
NM_001040716.2(PC):c.1599C>T (p.Pro533=)
|
|
|
NM_001040716.2(PC):c.15A>G (p.Arg5=)
|
rs2135944522
|
|
NM_001040716.2(PC):c.1603+17C>T
|
|
|
NM_001040716.2(PC):c.1603+18T>G
|
|
|
NM_001040716.2(PC):c.1604-12T>C
|
|
|
NM_001040716.2(PC):c.1604-13_1604-12del
|
|
|
NM_001040716.2(PC):c.1604-14C>T
|
|
|
NM_001040716.2(PC):c.1604-15C>T
|
|
|
NM_001040716.2(PC):c.1604-4C>T
|
|
|
NM_001040716.2(PC):c.1604-6C>T
|
rs746971709
|
|
NM_001040716.2(PC):c.1604-7A>T
|
rs2135815923
|
|
NM_001040716.2(PC):c.1604-8T>A
|
|
|
NM_001040716.2(PC):c.1604-9C>T
|
rs1439987432
|
|
NM_001040716.2(PC):c.1605C>A (p.Gly535=)
|
|
|
NM_001040716.2(PC):c.1638G>A (p.Leu546=)
|
|
|
NM_001040716.2(PC):c.1638G>T (p.Leu546=)
|
|
|
NM_001040716.2(PC):c.1668T>G (p.Ala556=)
|
rs1945568303
|
|
NM_001040716.2(PC):c.1672C>A (p.Arg558=)
|
rs752901945
|
|
NM_001040716.2(PC):c.1680C>T (p.His560=)
|
|
|
NM_001040716.2(PC):c.1683G>C (p.Pro561=)
|
|
|
NM_001040716.2(PC):c.1683G>T (p.Pro561=)
|
rs113071273
|
|
NM_001040716.2(PC):c.1687C>T (p.Leu563=)
|
rs2135814981
|
|
NM_001040716.2(PC):c.1689G>C (p.Leu563=)
|
|
|
NM_001040716.2(PC):c.169A>G (p.Thr57Ala)
|
|
|
NM_001040716.2(PC):c.1722C>T (p.His574=)
|
rs2135814600
|
|
NM_001040716.2(PC):c.1737C>T (p.Ala579=)
|
rs2135814504
|
|
NM_001040716.2(PC):c.177G>A (p.Leu59=)
|
|
|
NM_001040716.2(PC):c.1783G>T (p.Ala595Ser)
|
|
|
NM_001040716.2(PC):c.1791C>T (p.Asn597=)
|
|
|
NM_001040716.2(PC):c.1794C>T (p.Phe598=)
|
|
|
NM_001040716.2(PC):c.1803C>G (p.Leu601=)
|
|
|
NM_001040716.2(PC):c.1806C>T (p.Phe602=)
|
|
|
NM_001040716.2(PC):c.1815G>A (p.Glu605=)
|
|
|
NM_001040716.2(PC):c.1825+10C>T
|
|
|
NM_001040716.2(PC):c.1825+14C>G
|
|
|
NM_001040716.2(PC):c.1825+17C>T
|
|
|
NM_001040716.2(PC):c.1825+18G>A
|
|
|
NM_001040716.2(PC):c.1825+18G>T
|
|
|
NM_001040716.2(PC):c.1825+7T>C
|
rs2135813847
|
|
NM_001040716.2(PC):c.1826-14C>T
|
|
|
NM_001040716.2(PC):c.1826-18C>T
|
|
|
NM_001040716.2(PC):c.1826-4G>A
|
|
|
NM_001040716.2(PC):c.1826-6G>C
|
|
|
NM_001040716.2(PC):c.1826-8C>T
|
|
|
NM_001040716.2(PC):c.1826-9C>T
|
rs572703070
|
|
NM_001040716.2(PC):c.1830C>T (p.Ala610=)
|
|
|
NM_001040716.2(PC):c.1833G>C (p.Thr611=)
|
rs138796998
|
|
NM_001040716.2(PC):c.183C>T (p.Ile61=)
|
|
|
NM_001040716.2(PC):c.1851C>T (p.Arg617=)
|
rs2135810236
|
|
NM_001040716.2(PC):c.1857G>A (p.Leu619=)
|
|
|
NM_001040716.2(PC):c.1860T>C (p.Tyr620=)
|
|
|
NM_001040716.2(PC):c.1873C>A (p.Arg625=)
|
|
|
NM_001040716.2(PC):c.1878G>A (p.Arg626=)
|
|
|
NM_001040716.2(PC):c.1890C>T (p.Leu630=)
|
rs1284772953
|
|
NM_001040716.2(PC):c.1896G>A (p.Glu632=)
|
rs745438957
|
|
NM_001040716.2(PC):c.1899C>G (p.Leu633=)
|
|
|
NM_001040716.2(PC):c.1908C>T (p.Asn636=)
|
rs2135809462
|
|
NM_001040716.2(PC):c.1917C>T (p.Phe639=)
|
|
|
NM_001040716.2(PC):c.1924C>T (p.Leu642=)
|
rs2135809346
|
|
NM_001040716.2(PC):c.1929G>A (p.Leu643=)
|
|
|
NM_001040716.2(PC):c.1930C>A (p.Arg644=)
|
rs1468189989
|
|
NM_001040716.2(PC):c.1932G>C (p.Arg644=)
|
rs1591122081
|
|
NM_001040716.2(PC):c.1953C>T (p.Tyr651=)
|
rs1945510204
|
|
NM_001040716.2(PC):c.1968C>T (p.Asp656=)
|
rs2135808762
|
|
NM_001040716.2(PC):c.1974G>A (p.Val658=)
|
rs745327162
|
|
NM_001040716.2(PC):c.1982+12G>A
|
|
|
NM_001040716.2(PC):c.1982+13T>G
|
|
|
NM_001040716.2(PC):c.1982+15G>T
|
|
|
NM_001040716.2(PC):c.1982+16G>C
|
|
|
NM_001040716.2(PC):c.1982+17G>A
|
|
|
NM_001040716.2(PC):c.1982+18T>C
|
|
|
NM_001040716.2(PC):c.1982+7C>G
|
|
|
NM_001040716.2(PC):c.1983-10A>G
|
rs2135804777
|
|
NM_001040716.2(PC):c.1983-11C>T
|
|
|
NM_001040716.2(PC):c.1983-15C>G
|
|
|
NM_001040716.2(PC):c.1983-16T>G
|
|
|
NM_001040716.2(PC):c.1983-18G>A
|
|
|
NM_001040716.2(PC):c.1983-18G>C
|
|
|
NM_001040716.2(PC):c.1983-19G>C
|
|
|
NM_001040716.2(PC):c.1983-5T>G
|
|
|
NM_001040716.2(PC):c.1983-7C>G
|
rs2135804751
|
|
NM_001040716.2(PC):c.1983-8C>T
|
|
|
NM_001040716.2(PC):c.2016T>C (p.Asp672=)
|
|
|
NM_001040716.2(PC):c.2019C>A (p.Val673=)
|
rs1591119887
|
|
NM_001040716.2(PC):c.2019C>T (p.Val673=)
|
rs1591119887
|
|
NM_001040716.2(PC):c.201C>T (p.Tyr67=)
|
|
|
NM_001040716.2(PC):c.2031T>C (p.Phe677=)
|
rs2135804499
|
|
NM_001040716.2(PC):c.2034C>T (p.Asp678=)
|
rs2135804486
|
|
NM_001040716.2(PC):c.2037C>A (p.Ser679=)
|
rs2135804472
|
|
NM_001040716.2(PC):c.2040C>T (p.Leu680=)
|
rs1945471644
|
|
NM_001040716.2(PC):c.204T>G (p.Ser68=)
|
rs372697822
|
|
NM_001040716.2(PC):c.2067C>T (p.Gly689=)
|
|
|
NM_001040716.2(PC):c.2085T>C (p.Ser695=)
|
rs2135804147
|
|
NM_001040716.2(PC):c.2100G>T (p.Val700=)
|
|
|
NM_001040716.2(PC):c.2103G>A (p.Glu701=)
|
|
|
NM_001040716.2(PC):c.2121G>C (p.Thr707=)
|
|
|
NM_001040716.2(PC):c.2130G>T (p.Val710=)
|
rs2135803710
|
|
NM_001040716.2(PC):c.2134G>A (p.Asp712Asn)
|
|
|
NM_001040716.2(PC):c.2136C>T (p.Asp712=)
|
|
|
NM_001040716.2(PC):c.2139C>T (p.Pro713=)
|
rs1212515265
|
|
NM_001040716.2(PC):c.213C>T (p.Asp71=)
|
rs2135942518
|
|
NM_001040716.2(PC):c.2151G>A (p.Lys717=)
|
rs1591119216
|
|
NM_001040716.2(PC):c.2157A>G (p.Ser719=)
|
rs2135803352
|
|
NM_001040716.2(PC):c.2160G>A (p.Leu720=)
|
rs1945463615
|
|
NM_001040716.2(PC):c.2163G>A (p.Gln721=)
|
|
|
NM_001040716.2(PC):c.216G>C (p.Thr72=)
|
rs117711892
|
|
NM_001040716.2(PC):c.2178G>A (p.Leu726=)
|
|
|
NM_001040716.2(PC):c.2181C>T (p.Ala727=)
|
rs761189138
|
|
NM_001040716.2(PC):c.2182G>A (p.Glu728Lys)
|
rs193271416
|
|
NM_001040716.2(PC):c.2187G>A (p.Glu729=)
|
|
|
NM_001040716.2(PC):c.2193G>C (p.Val731=)
|
|
|
NM_001040716.2(PC):c.2205C>T (p.Thr735=)
|
rs2135802801
|
|
NM_001040716.2(PC):c.2223+11C>G
|
|
|
NM_001040716.2(PC):c.2223+13C>T
|
rs2135802616
|
|
NM_001040716.2(PC):c.2223+17T>C
|
|
|
NM_001040716.2(PC):c.2223+18C>T
|
|
|
NM_001040716.2(PC):c.2223+7G>T
|
|
|
NM_001040716.2(PC):c.2223+8G>A
|
|
|
NM_001040716.2(PC):c.2223+9G>A
|
|
|
NM_001040716.2(PC):c.2224-13C>T
|
|
|
NM_001040716.2(PC):c.2224-13_2224-12del
|
|
|
NM_001040716.2(PC):c.2224-15T>A
|
|
|
NM_001040716.2(PC):c.2224-15T>C
|
|
|
NM_001040716.2(PC):c.2224-16_2224-9dup
|
rs2135801603
|
|
NM_001040716.2(PC):c.2224-18C>T
|
|
|
NM_001040716.2(PC):c.2224-20C>G
|
|
|
NM_001040716.2(PC):c.2224-20C>T
|
|
|
NM_001040716.2(PC):c.2224-31TC[10]
|
rs139065746
|
|
NM_001040716.2(PC):c.2224-31TC[11]
|
rs139065746
|
|
NM_001040716.2(PC):c.2224-31TC[12]
|
|
|
NM_001040716.2(PC):c.2224-31TC[7]
|
|
|
NM_001040716.2(PC):c.2224-6C>T
|
|
|
NM_001040716.2(PC):c.2224-7C>T
|
rs375657263
|
|
NM_001040716.2(PC):c.2224-9T>C
|
|
|
NM_001040716.2(PC):c.2232C>G (p.Ala744=)
|
rs763631086
|
|
NM_001040716.2(PC):c.2232C>T (p.Ala744=)
|
rs763631086
|
|
NM_001040716.2(PC):c.2244G>A (p.Lys748=)
|
|
|
NM_001040716.2(PC):c.2250G>A (p.Thr750=)
|
rs760695580
|
|
NM_001040716.2(PC):c.2253C>T (p.Ala751=)
|
rs773060730
|
|
NM_001040716.2(PC):c.2256C>T (p.Cys752=)
|
rs1209420938
|
|
NM_001040716.2(PC):c.2265G>C (p.Leu755=)
|
|
|
NM_001040716.2(PC):c.2271C>T (p.Ser757=)
|
|
|
NM_001040716.2(PC):c.2274C>A (p.Ser758=)
|
rs930022211
|
|
NM_001040716.2(PC):c.2285G>A (p.Arg762His)
|
|
|
NM_001040716.2(PC):c.2293G>A (p.Asp765Asn)
|
|
|
NM_001040716.2(PC):c.2298C>A (p.Leu766=)
|
rs2135800527
|
|
NM_001040716.2(PC):c.2328A>G (p.Ser776=)
|
|
|
NM_001040716.2(PC):c.2337C>T (p.Gly779=)
|
|
|
NM_001040716.2(PC):c.2355C>A (p.Ala785=)
|
|
|
NM_001040716.2(PC):c.2355C>T (p.Ala785=)
|
rs1591117204
|
|
NM_001040716.2(PC):c.2379G>A (p.Val793=)
|
rs1002940972
|
|
NM_001040716.2(PC):c.2385T>C (p.Asp795=)
|
|
|
NM_001040716.2(PC):c.240A>G (p.Ala80=)
|
|
|
NM_001040716.2(PC):c.240A>T (p.Ala80=)
|
rs768997498
|
|
NM_001040716.2(PC):c.2424C>G (p.Pro808=)
|
rs2135798968
|
|
NM_001040716.2(PC):c.2433G>T (p.Gly811=)
|
rs2135798894
|
|
NM_001040716.2(PC):c.2436C>T (p.Ala812=)
|
|
|
NM_001040716.2(PC):c.2448T>C (p.Cys816=)
|
|
|
NM_001040716.2(PC):c.2453G>C (p.Arg818Thr)
|
|
|
NM_001040716.2(PC):c.2454A>G (p.Arg818=)
|
|
|
NM_001040716.2(PC):c.2457G>A (p.Gly819=)
|
|
|
NM_001040716.2(PC):c.2463C>T (p.Pro821=)
|
rs2135798570
|
|
NM_001040716.2(PC):c.2466G>C (p.Leu822=)
|
|
|
NM_001040716.2(PC):c.246A>G (p.Glu82=)
|
|
|
NM_001040716.2(PC):c.2473+10_2473+12del
|
|
|
NM_001040716.2(PC):c.2473+11C>T
|
|
|
NM_001040716.2(PC):c.2473+16G>C
|
|
|
NM_001040716.2(PC):c.2473+18C>T
|
|
|
NM_001040716.2(PC):c.2473+19C>T
|
|
|
NM_001040716.2(PC):c.2473+20G>A
|
rs776906176
|
|
NM_001040716.2(PC):c.2473+20G>T
|
rs776906176
|
|
NM_001040716.2(PC):c.2473+7A>G
|
rs2135798430
|
|
NM_001040716.2(PC):c.2474-10C>T
|
|
|
NM_001040716.2(PC):c.2474-11C>T
|
|
|
NM_001040716.2(PC):c.2474-15_2474-14del
|
|
|
NM_001040716.2(PC):c.2474-16T>C
|
|
|
NM_001040716.2(PC):c.2474-17C>T
|
|
|
NM_001040716.2(PC):c.2474-18_2474-13del
|
|
|
NM_001040716.2(PC):c.2474-22_2474-20del
|
|
|
NM_001040716.2(PC):c.2474-4G>A
|
rs2135796905
|
|
NM_001040716.2(PC):c.2474-5T>C
|
rs2135796924
|
|
NM_001040716.2(PC):c.2474-9T>C
|
|
|
NM_001040716.2(PC):c.2478G>C (p.Val826=)
|
rs928352255
|
|
NM_001040716.2(PC):c.2490C>A (p.Arg830=)
|
rs373079885
|
|
NM_001040716.2(PC):c.249C>T (p.Ala83=)
|
|
|
NM_001040716.2(PC):c.2502C>T (p.Tyr834=)
|
|
|
NM_001040716.2(PC):c.2523T>C (p.Ala841=)
|
|
|
NM_001040716.2(PC):c.2532G>A (p.Leu844=)
|
rs1188416837
|
|
NM_001040716.2(PC):c.2559C>A (p.Thr853=)
|
rs1255691208
|
|
NM_001040716.2(PC):c.2559C>T (p.Thr853=)
|
|
|
NM_001040716.2(PC):c.2568T>G (p.Ser856=)
|
rs2135795793
|
|
NM_001040716.2(PC):c.2604G>A (p.Gly868=)
|
rs2135795366
|
|
NM_001040716.2(PC):c.2613C>T (p.Tyr871=)
|
|
|
NM_001040716.2(PC):c.2620C>T (p.Leu874=)
|
|
|
NM_001040716.2(PC):c.2646G>A (p.Gly882=)
|
rs2135794916
|
|
NM_001040716.2(PC):c.2661C>T (p.Phe887=)
|
|
|
NM_001040716.2(PC):c.2667G>A (p.Glu889=)
|
|
|
NM_001040716.2(PC):c.2679C>T (p.Ala893=)
|
rs1945398542
|
|
NM_001040716.2(PC):c.2685G>A (p.Val895=)
|
|
|
NM_001040716.2(PC):c.2688G>A (p.Glu896=)
|
|
|
NM_001040716.2(PC):c.2691C>T (p.Ala897=)
|
rs2135794398
|
|
NM_001040716.2(PC):c.2712C>T (p.Leu904=)
|
rs1315876821
|
|
NM_001040716.2(PC):c.2715C>T (p.Ile905=)
|
|
|
NM_001040716.2(PC):c.2718+10G>C
|
|
|
NM_001040716.2(PC):c.2718+12_2718+13dup
|
|
|
NM_001040716.2(PC):c.2718+13C>A
|
|
|
NM_001040716.2(PC):c.2718+13C>T
|
|
|
NM_001040716.2(PC):c.2718+17G>A
|
|
|
NM_001040716.2(PC):c.2718+8C>A
|
rs375215292
|
|
NM_001040716.2(PC):c.2718+8C>T
|
rs375215292
|
|
NM_001040716.2(PC):c.2718+9G>C
|
rs201942341
|
|
NM_001040716.2(PC):c.2719-12C>T
|
|
|
NM_001040716.2(PC):c.2719-13G>A
|
|
|
NM_001040716.2(PC):c.2719-14G>T
|
|
|
NM_001040716.2(PC):c.2719-18C>T
|
|
|
NM_001040716.2(PC):c.2719-19T>G
|
|
|
NM_001040716.2(PC):c.2719-20C>T
|
|
|
NM_001040716.2(PC):c.2719-5C>T
|
|
|
NM_001040716.2(PC):c.2719-5_2719-3del
|
rs566558597
|
|
NM_001040716.2(PC):c.2727C>G (p.Pro909=)
|
|
|
NM_001040716.2(PC):c.2733C>T (p.Ser911=)
|
|
|
NM_001040716.2(PC):c.2745G>A (p.Gly915=)
|
rs2135792943
|
|
NM_001040716.2(PC):c.2766G>A (p.Val922=)
|
rs1591113979
|
|
NM_001040716.2(PC):c.276C>G (p.Pro92=)
|
rs1475855830
|
|
NM_001040716.2(PC):c.276C>T (p.Pro92=)
|
rs1475855830
|
|
NM_001040716.2(PC):c.2772T>C (p.Asn924=)
|
|
|
NM_001040716.2(PC):c.2778G>A (p.Leu926=)
|
|
|
NM_001040716.2(PC):c.2787A>G (p.Ala929=)
|
rs2135792546
|
|
NM_001040716.2(PC):c.2790G>A (p.Glu930=)
|
|
|
NM_001040716.2(PC):c.2793C>G (p.Ala931=)
|
rs749960473
|
|
NM_001040716.2(PC):c.279G>T (p.Val93=)
|
|
|
NM_001040716.2(PC):c.2805G>T (p.Ala935=)
|
|
|
NM_001040716.2(PC):c.2812C>T (p.Leu938=)
|
|
|
NM_001040716.2(PC):c.2814G>A (p.Leu938=)
|
|
|
NM_001040716.2(PC):c.2817C>T (p.Ser939=)
|
|
|
NM_001040716.2(PC):c.2820T>C (p.Phe940=)
|
|
|
NM_001040716.2(PC):c.2825G>A (p.Arg942His)
|
|
|
NM_001040716.2(PC):c.2826C>A (p.Arg942=)
|
|
|
NM_001040716.2(PC):c.2832G>A (p.Val944=)
|
|
|
NM_001040716.2(PC):c.2850C>A (p.Gly950=)
|
|
|
NM_001040716.2(PC):c.2862C>T (p.Val954=)
|
|
|
NM_001040716.2(PC):c.2865C>T (p.Pro955=)
|
|
|
NM_001040716.2(PC):c.2868T>C (p.His956=)
|
rs1945375758
|
|
NM_001040716.2(PC):c.2874G>A (p.Gly958=)
|
rs1131855
|
|
NM_001040716.2(PC):c.2898+10G>C
|
rs2135791382
|
|
NM_001040716.2(PC):c.2898+11C>T
|
|
|
NM_001040716.2(PC):c.2898+12C>G
|
|
|
NM_001040716.2(PC):c.2898+14A>G
|
|
|
NM_001040716.2(PC):c.2898+15G>C
|
|
|
NM_001040716.2(PC):c.2898+17A>G
|
|
|
NM_001040716.2(PC):c.2899-14G>C
|
|
|
NM_001040716.2(PC):c.2899-18C>T
|
|
|
NM_001040716.2(PC):c.2899-20T>G
|
|
|
NM_001040716.2(PC):c.2899-4C>A
|
|
|
NM_001040716.2(PC):c.2899-7T>C
|
|
|
NM_001040716.2(PC):c.2899-9G>C
|
rs372755874
|
|
NM_001040716.2(PC):c.2899-9G>T
|
rs372755874
|
|
NM_001040716.2(PC):c.2907G>A (p.Lys969=)
|
|
|
NM_001040716.2(PC):c.2913G>A (p.Leu971=)
|
|
|
NM_001040716.2(PC):c.2925G>A (p.Glu975=)
|
|
|
NM_001040716.2(PC):c.2940C>T (p.Ala980=)
|
|
|
NM_001040716.2(PC):c.2942C>T (p.Ser981Phe)
|
|
|
NM_001040716.2(PC):c.2943C>T (p.Ser981=)
|
|
|
NM_001040716.2(PC):c.2946C>T (p.Leu982=)
|
rs2135790495
|
|
NM_001040716.2(PC):c.2949T>C (p.Pro983=)
|
|
|
NM_001040716.2(PC):c.2952C>G (p.Pro984=)
|
|
|
NM_001040716.2(PC):c.2952C>T (p.Pro984=)
|
rs1945360928
|
|
NM_001040716.2(PC):c.2970G>A (p.Leu990=)
|
rs2062718859
|
|
NM_001040716.2(PC):c.2973G>A (p.Glu991=)
|
|
|
NM_001040716.2(PC):c.297C>A (p.Ile99=)
|
|
|
NM_001040716.2(PC):c.297C>T (p.Ile99=)
|
|
|
NM_001040716.2(PC):c.2994T>C (p.His998=)
|
|
|
NM_001040716.2(PC):c.3006G>T (p.Val1002=)
|
rs1457181158
|
|
NM_001040716.2(PC):c.3021G>A (p.Val1007=)
|
rs1945357309
|
|
NM_001040716.2(PC):c.3027A>G (p.Ser1009=)
|
|
|
NM_001040716.2(PC):c.3030A>G (p.Ala1010=)
|
rs1591112523
|
|
NM_001040716.2(PC):c.3039C>T (p.Tyr1013=)
|
rs1487683285
|
|
NM_001040716.2(PC):c.3042C>G (p.Pro1014=)
|
|
|
NM_001040716.2(PC):c.3045T>C (p.Asp1015=)
|
rs1945355490
|
|
NM_001040716.2(PC):c.3051T>A (p.Phe1017Leu)
|
|
|
NM_001040716.2(PC):c.3054C>T (p.Ala1018=)
|
|
|
NM_001040716.2(PC):c.3056A>G (p.His1019Arg)
|
|
|
NM_001040716.2(PC):c.3060C>T (p.Phe1020=)
|
rs1439546768
|
|
NM_001040716.2(PC):c.3066C>T (p.Asp1022=)
|
rs2135789388
|
|
NM_001040716.2(PC):c.3069C>T (p.Phe1023=)
|
rs753587788
|
|
NM_001040716.2(PC):c.306C>T (p.Ile102=)
|
|
|
NM_001040716.2(PC):c.309C>T (p.Ile103=)
|
|
|
NM_001040716.2(PC):c.3114C>T (p.Phe1038=)
|
|
|
NM_001040716.2(PC):c.3117G>A (p.Leu1039=)
|
rs759899977
|
|
NM_001040716.2(PC):c.3117G>T (p.Leu1039=)
|
rs759899977
|
|
NM_001040716.2(PC):c.3119A>G (p.Gln1040Arg)
|
|
|
NM_001040716.2(PC):c.3141G>A (p.Glu1047=)
|
|
|
NM_001040716.2(PC):c.3147+10T>C
|
|
|
NM_001040716.2(PC):c.3147+19T>A
|
|
|
NM_001040716.2(PC):c.3147+7G>C
|
rs1945349703
|
|
NM_001040716.2(PC):c.3148-12C>T
|
|
|
NM_001040716.2(PC):c.3148-19C>G
|
|
|
NM_001040716.2(PC):c.3148-4G>A
|
|
|
NM_001040716.2(PC):c.3148-4G>C
|
rs2135786822
|
|
NM_001040716.2(PC):c.3148-9T>A
|
|
|
NM_001040716.2(PC):c.3154C>T (p.Leu1052=)
|
rs2135786784
|
|
NM_001040716.2(PC):c.3165C>A (p.Gly1055=)
|
|
|
NM_001040716.2(PC):c.3171G>T (p.Thr1057=)
|
|
|
NM_001040716.2(PC):c.3180C>T (p.Ile1060=)
|
rs745677173
|
|
NM_001040716.2(PC):c.3187C>T (p.Leu1063=)
|
|
|
NM_001040716.2(PC):c.3189G>A (p.Leu1063=)
|
|
|
NM_001040716.2(PC):c.3193G>A (p.Val1065Met)
|
|
|
NM_001040716.2(PC):c.3195G>A (p.Val1065=)
|
|
|
NM_001040716.2(PC):c.3207C>T (p.Asn1069=)
|
|
|
NM_001040716.2(PC):c.3208C>T (p.Arg1070Trp)
|
|
|
NM_001040716.2(PC):c.3209G>A (p.Arg1070Gln)
|
|
|
NM_001040716.2(PC):c.321+10G>C
|
|
|
NM_001040716.2(PC):c.321+11T>A
|
|
|
NM_001040716.2(PC):c.321+12G>C
|
rs2135941845
|
|
NM_001040716.2(PC):c.321+13G>A
|
|
|
NM_001040716.2(PC):c.321+19C>G
|
|
|
NM_001040716.2(PC):c.321+20T>C
|
|
|
NM_001040716.2(PC):c.321+8C>T
|
|
|
NM_001040716.2(PC):c.321+9A>G
|
|
|
NM_001040716.2(PC):c.3212C>G (p.Ala1071Gly)
|
rs149583113
|
|
NM_001040716.2(PC):c.3213C>G (p.Ala1071=)
|
|
|
NM_001040716.2(PC):c.3216C>T (p.Gly1072=)
|
|
|
NM_001040716.2(PC):c.322-12C>T
|
|
|
NM_001040716.2(PC):c.322-16T>G
|
|
|
NM_001040716.2(PC):c.322-17C>T
|
|
|
NM_001040716.2(PC):c.322-4G>T
|
|
|
NM_001040716.2(PC):c.322-8A>G
|
rs778409831
|
|
NM_001040716.2(PC):c.3222G>A (p.Arg1074=)
|
|
|
NM_001040716.2(PC):c.3225G>A (p.Gln1075=)
|
rs933670600
|
|
NM_001040716.2(PC):c.3228C>T (p.Val1076=)
|
|
|
NM_001040716.2(PC):c.3237G>A (p.Glu1079=)
|
rs1447561812
|
|
NM_001040716.2(PC):c.3240C>T (p.Leu1080=)
|
rs1591110612
|
|
NM_001040716.2(PC):c.3246G>A (p.Gly1082=)
|
rs2135785870
|
|
NM_001040716.2(PC):c.3249G>A (p.Gln1083=)
|
rs374682909
|
|
NM_001040716.2(PC):c.324G>A (p.Glu108=)
|
rs2135940927
|
|
NM_001040716.2(PC):c.3258C>T (p.Ser1086=)
|
|
|
NM_001040716.2(PC):c.3267C>T (p.Val1089=)
|
rs746903912
|
|
NM_001040716.2(PC):c.327C>T (p.Asn109=)
|
rs2135940914
|
|
NM_001040716.2(PC):c.3288+10C>T
|
|
|
NM_001040716.2(PC):c.3288+11C>A
|
|
|
NM_001040716.2(PC):c.3288+12C>G
|
|
|
NM_001040716.2(PC):c.3288+13C>T
|
|
|
NM_001040716.2(PC):c.3288+14C>T
|
|
|
NM_001040716.2(PC):c.3288+16G>A
|
|
|
NM_001040716.2(PC):c.3288+17G>A
|
|
|
NM_001040716.2(PC):c.3288+8C>T
|
rs2135785319
|
|
NM_001040716.2(PC):c.3289-10G>A
|
|
|
NM_001040716.2(PC):c.3289-10G>C
|
rs529411023
|
|
NM_001040716.2(PC):c.3289-10G>T
|
|
|
NM_001040716.2(PC):c.3289-11T>C
|
|
|
NM_001040716.2(PC):c.3289-12C>T
|
|
|
NM_001040716.2(PC):c.3289-17C>T
|
|
|
NM_001040716.2(PC):c.3289-20C>T
|
|
|
NM_001040716.2(PC):c.3289-23_3289-20dup
|
|
|
NM_001040716.2(PC):c.3289-8del
|
rs2135784540
|
|
NM_001040716.2(PC):c.3297C>T (p.His1099=)
|
rs781571109
|
|
NM_001040716.2(PC):c.3309G>A (p.Lys1103=)
|
|
|
NM_001040716.2(PC):c.330C>T (p.Asn110=)
|
|
|
NM_001040716.2(PC):c.3312C>T (p.Ala1104=)
|
|
|
NM_001040716.2(PC):c.3318G>A (p.Lys1106=)
|
rs2135784251
|
|
NM_001040716.2(PC):c.3324G>A (p.Val1108=)
|
|
|
NM_001040716.2(PC):c.3336C>A (p.Ile1112=)
|
rs776196411
|
|
NM_001040716.2(PC):c.3342G>T (p.Ala1114=)
|
|
|
NM_001040716.2(PC):c.3360G>A (p.Val1120=)
|
|
|
NM_001040716.2(PC):c.3369C>T (p.Ile1123=)
|
|
|
NM_001040716.2(PC):c.336T>C (p.Asp112=)
|
|
|
NM_001040716.2(PC):c.3375G>C (p.Val1125=)
|
rs1945311797
|
|
NM_001040716.2(PC):c.3378G>A (p.Val1126=)
|
rs753201697
|
|
NM_001040716.2(PC):c.3378G>C (p.Val1126=)
|
rs753201697
|
|
NM_001040716.2(PC):c.3384G>A (p.Gly1128=)
|
rs145167276
|
|
NM_001040716.2(PC):c.3384G>T (p.Gly1128=)
|
|
|
NM_001040716.2(PC):c.3386C>T (p.Ala1129Val)
|
|
|
NM_001040716.2(PC):c.3387C>G (p.Ala1129=)
|
rs761578681
|
|
NM_001040716.2(PC):c.3387C>T (p.Ala1129=)
|
|
|
NM_001040716.2(PC):c.3390G>A (p.Lys1130=)
|
rs200166901
|
|
NM_001040716.2(PC):c.3394G>A (p.Ala1132Thr)
|
|
|
NM_001040716.2(PC):c.3396C>T (p.Ala1132=)
|
|
|
NM_001040716.2(PC):c.3399G>A (p.Lys1133=)
|
rs776825183
|
|
NM_001040716.2(PC):c.339A>C (p.Ala113=)
|
|
|
NM_001040716.2(PC):c.339A>G (p.Ala113=)
|
|
|
NM_001040716.2(PC):c.3405G>A (p.Gln1135=)
|
rs747244374
|
|
NM_001040716.2(PC):c.3414T>C (p.Cys1138=)
|
rs2135782929
|
|
NM_001040716.2(PC):c.3432G>A (p.Lys1144=)
|
|
|
NM_001040716.2(PC):c.3441T>C (p.Thr1147=)
|
|
|
NM_001040716.2(PC):c.3444G>A (p.Val1148=)
|
|
|
NM_001040716.2(PC):c.3447G>C (p.Val1149=)
|
|
|
NM_001040716.2(PC):c.3450C>G (p.Thr1150=)
|
|
|
NM_001040716.2(PC):c.3450C>T (p.Thr1150=)
|
|
|
NM_001040716.2(PC):c.3453A>T (p.Ser1151=)
|
rs571513074
|
|
NM_001040716.2(PC):c.3457A>G (p.Met1153Val)
|
|
|
NM_001040716.2(PC):c.345C>T (p.His115=)
|
rs2135940811
|
|
NM_001040716.2(PC):c.3462G>A (p.Glu1154=)
|
|
|
NM_001040716.2(PC):c.3462G>C (p.Glu1154Asp)
|
rs373287823
|
|
NM_001040716.2(PC):c.3474C>A (p.Arg1158=)
|
|
|
NM_001040716.2(PC):c.3475A>G (p.Lys1159Glu)
|
|
|
NM_001040716.2(PC):c.3477G>A (p.Lys1159=)
|
|
|
NM_001040716.2(PC):c.3489C>G (p.Thr1163=)
|
rs2135782288
|
|
NM_001040716.2(PC):c.3492G>A (p.Lys1164=)
|
|
|
NM_001040716.2(PC):c.3493G>T (p.Asp1165Tyr)
|
|
|
NM_001040716.2(PC):c.3497T>C (p.Met1166Thr)
|
|
|
NM_001040716.2(PC):c.3501A>G (p.Thr1167=)
|
rs2135782194
|
|
NM_001040716.2(PC):c.3519C>T (p.Leu1173=)
|
rs2135781997
|
|
NM_001040716.2(PC):c.3522C>T (p.Ile1174=)
|
|
|
NM_001040716.2(PC):c.3528G>A (p.Glu1176=)
|
|
|
NM_001040716.2(PC):c.3531C>A (p.Ile1177=)
|
rs144982348
|
|
NM_001040716.2(PC):c.3531C>T (p.Ile1177=)
|
rs144982348
|
|
NM_001040716.2(PC):c.357G>A (p.Gly119=)
|
rs2135940780
|
|
NM_001040716.2(PC):c.396G>A (p.Gln132=)
|
rs776845894
|
|
NM_001040716.2(PC):c.39C>G (p.Leu13=)
|
rs1440597243
|
|
NM_001040716.2(PC):c.39C>T (p.Leu13=)
|
|
|
NM_001040716.2(PC):c.408C>T (p.Val136=)
|
|
|
NM_001040716.2(PC):c.420G>C (p.Gly140=)
|
|
|
NM_001040716.2(PC):c.420G>T (p.Gly140=)
|
|
|
NM_001040716.2(PC):c.426C>T (p.Ser142=)
|
rs1184131560
|
|
NM_001040716.2(PC):c.429A>G (p.Pro143=)
|
rs2135940395
|
|
NM_001040716.2(PC):c.42G>C (p.Leu14=)
|
rs2135944286
|
|
NM_001040716.2(PC):c.465C>G (p.Ala155=)
|
rs1336829179
|
|
NM_001040716.2(PC):c.465C>T (p.Ala155=)
|
rs1336829179
|
|
NM_001040716.2(PC):c.487+11C>A
|
|
|
NM_001040716.2(PC):c.487+11C>T
|
|
|
NM_001040716.2(PC):c.488-17C>T
|
|
|
NM_001040716.2(PC):c.488-20C>T
|
|
|
NM_001040716.2(PC):c.488-6C>T
|
rs2135939606
|
|
NM_001040716.2(PC):c.488-8C>T
|
|
|
NM_001040716.2(PC):c.492T>A (p.Val164=)
|
|
|
NM_001040716.2(PC):c.516C>T (p.Ala172=)
|
rs1946715352
|
|
NM_001040716.2(PC):c.519C>G (p.Pro173=)
|
|
|
NM_001040716.2(PC):c.525G>A (p.Thr175=)
|
rs370278016
|
|
NM_001040716.2(PC):c.525G>C (p.Thr175=)
|
rs370278016
|
|
NM_001040716.2(PC):c.531G>A (p.Leu177=)
|
rs2135939413
|
|
NM_001040716.2(PC):c.537G>A (p.Glu179=)
|
|
|
NM_001040716.2(PC):c.53G>A (p.Arg18Gln)
|
|
|
NM_001040716.2(PC):c.552C>T (p.Ser184=)
|
rs1591188749
|
|
NM_001040716.2(PC):c.564C>T (p.Gly188=)
|
|
|
NM_001040716.2(PC):c.567C>T (p.Phe189=)
|
rs746873070
|
|
NM_001040716.2(PC):c.570C>T (p.Pro190=)
|
rs1946713427
|
|
NM_001040716.2(PC):c.585G>A (p.Ala195=)
|
|
|
NM_001040716.2(PC):c.585G>C (p.Ala195=)
|
rs375925670
|
|
NM_001040716.2(PC):c.585G>T (p.Ala195=)
|
rs375925670
|
|
NM_001040716.2(PC):c.597T>A (p.Gly199=)
|
rs1946712107
|
|
NM_001040716.2(PC):c.600A>C (p.Gly200=)
|
|
|
NM_001040716.2(PC):c.60C>T (p.Ser20=)
|
rs1591192392
|
|
NM_001040716.2(PC):c.615G>A (p.Arg205=)
|
rs2135939020
|
|
NM_001040716.2(PC):c.618G>A (p.Val206=)
|
rs2135938987
|
|
NM_001040716.2(PC):c.624C>T (p.His208=)
|
|
|
NM_001040716.2(PC):c.633+16C>T
|
|
|
NM_001040716.2(PC):c.633+8A>G
|
|
|
NM_001040716.2(PC):c.634-11C>T
|
|
|
NM_001040716.2(PC):c.634-12C>G
|
|
|
NM_001040716.2(PC):c.634-14G>C
|
|
|
NM_001040716.2(PC):c.634-14G>T
|
|
|
NM_001040716.2(PC):c.634-17C>G
|
|
|
NM_001040716.2(PC):c.634-17C>T
|
|
|
NM_001040716.2(PC):c.634-4G>A
|
rs368096991
|
|
NM_001040716.2(PC):c.634-4G>C
|
|
|
NM_001040716.2(PC):c.634-4G>T
|
rs368096991
|
|
NM_001040716.2(PC):c.634-7C>G
|
|
|
NM_001040716.2(PC):c.639G>A (p.Leu213=)
|
|
|
NM_001040716.2(PC):c.651C>T (p.Tyr217=)
|
|
|
NM_001040716.2(PC):c.655C>A (p.Arg219=)
|
|
|
NM_001040716.2(PC):c.662A>T (p.Tyr221Phe)
|
|
|
NM_001040716.2(PC):c.66C>A (p.Ala22=)
|
rs1294478419
|
|
NM_001040716.2(PC):c.66C>T (p.Ala22=)
|
rs1294478419
|
|
NM_001040716.2(PC):c.675G>A (p.Leu225=)
|
|
|
NM_001040716.2(PC):c.681C>A (p.Ala227=)
|
rs375016949
|
|
NM_001040716.2(PC):c.681C>T (p.Ala227=)
|
|
|
NM_001040716.2(PC):c.696G>T (p.Ala232=)
|
|
|
NM_001040716.2(PC):c.699G>A (p.Leu233=)
|
|
|
NM_001040716.2(PC):c.69C>G (p.Pro23=)
|
rs758030072
|
|
NM_001040716.2(PC):c.69C>T (p.Pro23=)
|
rs758030072
|
|
NM_001040716.2(PC):c.6G>A (p.Leu2=)
|
|
|
NM_001040716.2(PC):c.723G>A (p.Lys241=)
|
rs2135937673
|
|
NM_001040716.2(PC):c.732C>T (p.His244=)
|
rs1322118579
|
|
NM_001040716.2(PC):c.747C>T (p.Ile249=)
|
rs566631933
|
|
NM_001040716.2(PC):c.751+10C>T
|
|
|
NM_001040716.2(PC):c.751+11C>A
|
|
|
NM_001040716.2(PC):c.751+15C>A
|
|
|
NM_001040716.2(PC):c.751+15C>T
|
rs202075789
|
|
NM_001040716.2(PC):c.751+16G>A
|
|
|
NM_001040716.2(PC):c.751+17C>T
|
|
|
NM_001040716.2(PC):c.751+20C>G
|
|
|
NM_001040716.2(PC):c.751+20C>T
|
|
|
NM_001040716.2(PC):c.751+8G>C
|
|
|
NM_001040716.2(PC):c.752-10C>A
|
|
|
NM_001040716.2(PC):c.752-12C>G
|
|
|
NM_001040716.2(PC):c.752-13C>T
|
|
|
NM_001040716.2(PC):c.752-4C>A
|
rs760649111
|
|
NM_001040716.2(PC):c.752-4C>T
|
rs760649111
|
|
NM_001040716.2(PC):c.752-6C>G
|
|
|
NM_001040716.2(PC):c.752-8C>T
|
rs2135936097
|
|
NM_001040716.2(PC):c.756C>T (p.Asp252=)
|
|
|
NM_001040716.2(PC):c.765G>A (p.Gly255=)
|
|
|
NM_001040716.2(PC):c.765G>C (p.Gly255=)
|
rs1377525533
|
|
NM_001040716.2(PC):c.768C>T (p.Asn256=)
|
rs2135935982
|
|
NM_001040716.2(PC):c.771C>T (p.Ile257=)
|
rs2135935969
|
|
NM_001040716.2(PC):c.774G>C (p.Leu258=)
|
rs2135935956
|
|
NM_001040716.2(PC):c.786G>A (p.Glu262=)
|
rs200030109
|
|
NM_001040716.2(PC):c.787C>A (p.Arg263=)
|
|
|
NM_001040716.2(PC):c.789A>T (p.Arg263=)
|
rs1946677605
|
|
NM_001040716.2(PC):c.78C>T (p.Ser26=)
|
|
|
NM_001040716.2(PC):c.795C>T (p.Cys265=)
|
rs1484456027
|
|
NM_001040716.2(PC):c.804G>A (p.Gln268=)
|
|
|
NM_001040716.2(PC):c.810G>A (p.Arg270=)
|
|
|
NM_001040716.2(PC):c.831T>C (p.Ile277=)
|
|
|
NM_001040716.2(PC):c.834C>A (p.Ala278=)
|
rs2135935377
|
|
NM_001040716.2(PC):c.840C>A (p.Ala280=)
|
|
|
NM_001040716.2(PC):c.840C>T (p.Ala280=)
|
rs376393322
|
|
NM_001040716.2(PC):c.846C>A (p.His282Gln)
|
|
|
NM_001040716.2(PC):c.861T>C (p.Leu287=)
|
rs2135935162
|
|
NM_001040716.2(PC):c.885T>C (p.Ser295=)
|
rs1320318568
|
|
NM_001040716.2(PC):c.888G>A (p.Val296=)
|
rs1342125656
|
|
NM_001040716.2(PC):c.88C>T (p.Arg30Trp)
|
|
|
NM_001040716.2(PC):c.894C>G (p.Leu298=)
|
|
|
NM_001040716.2(PC):c.897T>C (p.Ala299=)
|
rs2135934934
|
|
NM_001040716.2(PC):c.903+18C>T
|
|
|
NM_001040716.2(PC):c.903+20T>C
|
|
|
NM_001040716.2(PC):c.904-12C>T
|
|
|
NM_001040716.2(PC):c.904-4A>G
|
|
|
NM_001040716.2(PC):c.904-4A>T
|
|
|
NM_001040716.2(PC):c.904-9C>T
|
|
|
NM_001040716.2(PC):c.930G>C (p.Val310=)
|
|
|
NM_001040716.2(PC):c.933G>A (p.Glu311=)
|
|
|
NM_001040716.2(PC):c.948G>A (p.Arg316=)
|
rs2135929486
|
|
NM_001040716.2(PC):c.954C>A (p.Gly318=)
|
|
|
NM_001040716.2(PC):c.954C>G (p.Gly318=)
|
rs370324997
|
|
NM_001040716.2(PC):c.966C>T (p.Phe322=)
|
|
|
NM_001040716.2(PC):c.96G>A (p.Leu32=)
|
rs1057520946
|
|
NM_001040716.2(PC):c.972G>A (p.Glu324=)
|
|
|
NM_001040716.2(PC):c.978C>T (p.Asn326=)
|
|
|
NM_001040716.2(PC):c.993G>A (p.Val331=)
|
rs761183180
|
|
NM_001164277.2(SLC37A4):c.1011A>G (p.Val337=)
|
rs2134628485
|
|
NM_001164277.2(SLC37A4):c.1023C>T (p.Ser341=)
|
rs1555190535
|
|
NM_001164277.2(SLC37A4):c.1026G>C (p.Ser342=)
|
|
|
NM_001164277.2(SLC37A4):c.1047T>C (p.Phe349=)
|
rs368615623
|
|
NM_001164277.2(SLC37A4):c.1071C>T (p.Ala357=)
|
rs1555190486
|
|
NM_001164277.2(SLC37A4):c.1074T>C (p.Pro358=)
|
rs1592108548
|
|
NM_001164277.2(SLC37A4):c.1077C>G (p.Pro359=)
|
rs1555190477
|
|
NM_001164277.2(SLC37A4):c.1083G>A (p.Leu361=)
|
|
|
NM_001164277.2(SLC37A4):c.1089C>T (p.Gly363=)
|
rs2134627864
|
|
NM_001164277.2(SLC37A4):c.1095C>T (p.Ser365=)
|
rs2134627842
|
|
NM_001164277.2(SLC37A4):c.1101C>T (p.Ala367=)
|
rs1555190455
|
|
NM_001164277.2(SLC37A4):c.1104T>C (p.Ile368=)
|
|
|
NM_001164277.2(SLC37A4):c.1113C>T (p.Leu371=)
|
rs1592108432
|
|
NM_001164277.2(SLC37A4):c.111A>G (p.Ser37=)
|
|
|
NM_001164277.2(SLC37A4):c.1124+12C>T
|
|
|
NM_001164277.2(SLC37A4):c.1124+20G>A
|
|
|
NM_001164277.2(SLC37A4):c.1124+7G>A
|
rs1555190438
|
|
NM_001164277.2(SLC37A4):c.1125-10C>G
|
|
|
NM_001164277.2(SLC37A4):c.1125-11C>A
|
|
|
NM_001164277.2(SLC37A4):c.1125-12T>A
|
rs2134627316
|
|
NM_001164277.2(SLC37A4):c.1125-14T>C
|
rs1555190405
|
|
NM_001164277.2(SLC37A4):c.1125-4A>G
|
|
|
NM_001164277.2(SLC37A4):c.1125-6T>G
|
rs782323567
|
|
NM_001164277.2(SLC37A4):c.1125-6del
|
rs1565686054
|
|
NM_001164277.2(SLC37A4):c.1125-7C>A
|
|
|
NM_001164277.2(SLC37A4):c.1125-9C>T
|
rs1592108198
|
|
NM_001164277.2(SLC37A4):c.1134T>C (p.Phe378=)
|
|
|
NM_001164277.2(SLC37A4):c.1135C>T (p.Leu379=)
|
rs962377661
|
|
NM_001164277.2(SLC37A4):c.1149C>G (p.Pro383=)
|
rs2134627010
|
|
NM_001164277.2(SLC37A4):c.1152C>T (p.Phe384=)
|
rs1943511879
|
|
NM_001164277.2(SLC37A4):c.1158C>A (p.Thr386=)
|
rs1943511456
|
|
NM_001164277.2(SLC37A4):c.1158C>T (p.Thr386=)
|
rs1943511456
|
|
NM_001164277.2(SLC37A4):c.1167G>A (p.Lys389=)
|
rs1943511012
|
|
NM_001164277.2(SLC37A4):c.1173C>T (p.Tyr391=)
|
rs1555190394
|
|
NM_001164277.2(SLC37A4):c.1176T>C (p.Ser392=)
|
|
|
NM_001164277.2(SLC37A4):c.117G>T (p.Val39=)
|
|
|
NM_001164277.2(SLC37A4):c.1197G>C (p.Val399=)
|
rs2134626678
|
|
NM_001164277.2(SLC37A4):c.1206G>A (p.Val402=)
|
|
|
NM_001164277.2(SLC37A4):c.1206G>T (p.Val402=)
|
rs781909798
|
|
NM_001164277.2(SLC37A4):c.1221C>T (p.Ser407=)
|
rs1592107877
|
|
NM_001164277.2(SLC37A4):c.1230C>T (p.Ala410=)
|
rs1555190367
|
|
NM_001164277.2(SLC37A4):c.1242A>G (p.Leu414=)
|
rs2134626404
|
|
NM_001164277.2(SLC37A4):c.1248C>T (p.Asn416=)
|
rs2134626360
|
|
NM_001164277.2(SLC37A4):c.1257C>T (p.Thr419=)
|
|
|
NM_001164277.2(SLC37A4):c.1287G>A (p.Glu429=)
|
|
|
NM_001164277.2(SLC37A4):c.1289G>A (p.Ter430=)
|
|
|
NM_001164277.2(SLC37A4):c.135C>T (p.Asp45=)
|
rs1943673151
|
|
NM_001164277.2(SLC37A4):c.138G>A (p.Lys46=)
|
rs1555191835
|
|
NM_001164277.2(SLC37A4):c.141T>C (p.Asp47=)
|
rs373540523
|
|
NM_001164277.2(SLC37A4):c.148+16G>A
|
rs2134643318
|
|
NM_001164277.2(SLC37A4):c.148+20G>C
|
|
|
NM_001164277.2(SLC37A4):c.148+7_148+8del
|
|
|
NM_001164277.2(SLC37A4):c.149-11G>A
|
rs1555191644
|
|
NM_001164277.2(SLC37A4):c.149-17T>C
|
|
|
NM_001164277.2(SLC37A4):c.149-18G>C
|
|
|
NM_001164277.2(SLC37A4):c.149-20A>G
|
rs1555191648
|
|
NM_001164277.2(SLC37A4):c.149-6del
|
rs2134640825
|
|
NM_001164277.2(SLC37A4):c.149-8C>G
|
|
|
NM_001164277.2(SLC37A4):c.150G>C (p.Gly50=)
|
rs202137454
|
|
NM_001164277.2(SLC37A4):c.153C>T (p.Phe51=)
|
rs1352116986
|
|
NM_001164277.2(SLC37A4):c.156C>T (p.Ile52=)
|
|
|
NM_001164277.2(SLC37A4):c.159C>G (p.Thr53=)
|
rs2134640708
|
|
NM_001164277.2(SLC37A4):c.15C>T (p.Gly5=)
|
rs1555191904
|
|
NM_001164277.2(SLC37A4):c.165C>T (p.Ser55=)
|
rs782548085
|
|
NM_001164277.2(SLC37A4):c.180T>C (p.Tyr60=)
|
|
|
NM_001164277.2(SLC37A4):c.195T>C (p.Phe65=)
|
|
|
NM_001164277.2(SLC37A4):c.207G>A (p.Val69=)
|
rs1295497535
|
|
NM_001164277.2(SLC37A4):c.210G>T (p.Leu70=)
|
rs2134640432
|
|
NM_001164277.2(SLC37A4):c.240C>T (p.Phe80=)
|
|
|
NM_001164277.2(SLC37A4):c.243T>G (p.Ser81=)
|
|
|
NM_001164277.2(SLC37A4):c.255C>A (p.Leu85=)
|
rs2134640137
|
|
NM_001164277.2(SLC37A4):c.258G>C (p.Leu86=)
|
rs1555191590
|
|
NM_001164277.2(SLC37A4):c.264C>A (p.Gly88=)
|
rs782292086
|
|
NM_001164277.2(SLC37A4):c.267G>A (p.Leu89=)
|
rs2134640047
|
|
NM_001164277.2(SLC37A4):c.27T>C (p.Tyr9=)
|
rs2134644380
|
|
NM_001164277.2(SLC37A4):c.285C>G (p.Ala95=)
|
rs2134639947
|
|
NM_001164277.2(SLC37A4):c.291C>T (p.Ser97=)
|
rs561054469
|
|
NM_001164277.2(SLC37A4):c.303T>C (p.Pro101=)
|
rs782803340
|
|
NM_001164277.2(SLC37A4):c.312T>C (p.Ala104=)
|
rs2134639818
|
|
NM_001164277.2(SLC37A4):c.318C>G (p.Leu106=)
|
rs11552540
|
|
NM_001164277.2(SLC37A4):c.330T>C (p.Asn110=)
|
|
|
NM_001164277.2(SLC37A4):c.334C>T (p.Leu112=)
|
|
|
NM_001164277.2(SLC37A4):c.339C>T (p.Ala113=)
|
rs1376674013
|
|
NM_001164277.2(SLC37A4):c.345G>A (p.Gly115=)
|
rs782188658
|
|
NM_001164277.2(SLC37A4):c.345G>T (p.Gly115=)
|
rs782188658
|
|
NM_001164277.2(SLC37A4):c.351C>T (p.Gly117=)
|
rs1311198538
|
|
NM_001164277.2(SLC37A4):c.366G>A (p.Gly122=)
|
rs1555191518
|
|
NM_001164277.2(SLC37A4):c.369G>A (p.Lys123=)
|
rs1218213940
|
|
NM_001164277.2(SLC37A4):c.372C>T (p.Val124=)
|
rs137940481
|
|
NM_001164277.2(SLC37A4):c.375G>A (p.Leu125=)
|
|
|
NM_001164277.2(SLC37A4):c.381+18G>T
|
|
|
NM_001164277.2(SLC37A4):c.381+8C>T
|
rs782284449
|
|
NM_001164277.2(SLC37A4):c.382-20T>G
|
|
|
NM_001164277.2(SLC37A4):c.382-5C>T
|
|
|
NM_001164277.2(SLC37A4):c.382-7C>T
|
rs2134638535
|
|
NM_001164277.2(SLC37A4):c.382-8C>T
|
rs2134638543
|
|
NM_001164277.2(SLC37A4):c.382-9G>C
|
rs985534169
|
|
NM_001164277.2(SLC37A4):c.405C>T (p.Gly135=)
|
rs377452076
|
|
NM_001164277.2(SLC37A4):c.417C>T (p.Ala139=)
|
rs2134638267
|
|
NM_001164277.2(SLC37A4):c.420C>T (p.Ile140=)
|
|
|
NM_001164277.2(SLC37A4):c.421C>T (p.Leu141=)
|
|
|
NM_001164277.2(SLC37A4):c.423G>C (p.Leu141=)
|
rs766732034
|
|
NM_001164277.2(SLC37A4):c.423G>T (p.Leu141=)
|
rs766732034
|
|
NM_001164277.2(SLC37A4):c.429C>T (p.Thr143=)
|
rs1250941400
|
|
NM_001164277.2(SLC37A4):c.447A>G (p.Gly149=)
|
rs2134638161
|
|
NM_001164277.2(SLC37A4):c.45A>G (p.Ser15=)
|
rs1555191880
|
|
NM_001164277.2(SLC37A4):c.463C>T (p.Leu155=)
|
rs1395373487
|
|
NM_001164277.2(SLC37A4):c.468A>G (p.Ala156=)
|
rs1395094300
|
|
NM_001164277.2(SLC37A4):c.483G>A (p.Gln161=)
|
rs2134637952
|
|
NM_001164277.2(SLC37A4):c.492C>T (p.Ser164=)
|
rs369399624
|
|
NM_001164277.2(SLC37A4):c.504G>T (p.Thr168=)
|
|
|
NM_001164277.2(SLC37A4):c.507G>C (p.Leu169=)
|
|
|
NM_001164277.2(SLC37A4):c.519G>T (p.Gly173=)
|
|
|
NM_001164277.2(SLC37A4):c.522A>C (p.Ala174=)
|
rs369409989
|
|
NM_001164277.2(SLC37A4):c.525G>C (p.Leu175=)
|
rs1010838306
|
|
NM_001164277.2(SLC37A4):c.531G>T (p.Val177=)
|
|
|
NM_001164277.2(SLC37A4):c.537C>T (p.Val179=)
|
rs1780828602
|
|
NM_001164277.2(SLC37A4):c.543C>T (p.Phe181=)
|
rs760217061
|
|
NM_001164277.2(SLC37A4):c.553C>T (p.Leu185=)
|
|
|
NM_001164277.2(SLC37A4):c.576T>C (p.Ala192=)
|
rs1555191231
|
|
NM_001164277.2(SLC37A4):c.588C>T (p.Leu196=)
|
rs1555191222
|
|
NM_001164277.2(SLC37A4):c.595C>T (p.Leu199=)
|
rs1565689217
|
|
NM_001164277.2(SLC37A4):c.597G>A (p.Leu199=)
|
rs750870724
|
|
NM_001164277.2(SLC37A4):c.603C>T (p.Pro201=)
|
rs368398459
|
|
NM_001164277.2(SLC37A4):c.60C>A (p.Gly20=)
|
|
|
NM_001164277.2(SLC37A4):c.60C>T (p.Gly20=)
|
|
|
NM_001164277.2(SLC37A4):c.611C>T (p.Ser204Phe)
|
rs567419206
|
|
NM_001164277.2(SLC37A4):c.626+10C>A
|
rs757924969
|
|
NM_001164277.2(SLC37A4):c.626+10C>G
|
|
|
NM_001164277.2(SLC37A4):c.626+10C>T
|
rs757924969
|
|
NM_001164277.2(SLC37A4):c.626+11A>T
|
rs747150144
|
|
NM_001164277.2(SLC37A4):c.626+15A>G
|
|
|
NM_001164277.2(SLC37A4):c.626+16G>C
|
rs74673344
|
|
NM_001164277.2(SLC37A4):c.626+7C>T
|
rs1555191207
|
|
NM_001164277.2(SLC37A4):c.626+8C>T
|
|
|
NM_001164277.2(SLC37A4):c.627-11C>T
|
|
|
NM_001164277.2(SLC37A4):c.627-16C>T
|
|
|
NM_001164277.2(SLC37A4):c.627-20C>T
|
rs1191557410
|
|
NM_001164277.2(SLC37A4):c.627-6C>T
|
rs782514947
|
|
NM_001164277.2(SLC37A4):c.627-7C>T
|
|
|
NM_001164277.2(SLC37A4):c.627-8A>G
|
|
|
NM_001164277.2(SLC37A4):c.627-9C>T
|
|
|
NM_001164277.2(SLC37A4):c.627C>T (p.Gly209=)
|
|
|
NM_001164277.2(SLC37A4):c.633G>A (p.Leu211=)
|
rs2134635379
|
|
NM_001164277.2(SLC37A4):c.63C>T (p.Tyr21=)
|
rs1257759060
|
|
NM_001164277.2(SLC37A4):c.645C>T (p.Ser215=)
|
|
|
NM_001164277.2(SLC37A4):c.648C>T (p.Thr216=)
|
|
|
NM_001164277.2(SLC37A4):c.664C>T (p.Leu222=)
|
|
|
NM_001164277.2(SLC37A4):c.666G>C (p.Leu222=)
|
rs1943590147
|
|
NM_001164277.2(SLC37A4):c.669C>T (p.Ser223=)
|
|
|
NM_001164277.2(SLC37A4):c.66C>T (p.Ser22=)
|
rs2134644140
|
|
NM_001164277.2(SLC37A4):c.690C>G (p.Ser230=)
|
rs782333619
|
|
NM_001164277.2(SLC37A4):c.690C>T (p.Ser230=)
|
rs782333619
|
|
NM_001164277.2(SLC37A4):c.702T>G (p.Leu234=)
|
|
|
NM_001164277.2(SLC37A4):c.717A>C (p.Val239=)
|
|
|
NM_001164277.2(SLC37A4):c.723C>G (p.Thr241=)
|
rs782547500
|
|
NM_001164277.2(SLC37A4):c.723C>T (p.Thr241=)
|
rs782547500
|
|
NM_001164277.2(SLC37A4):c.762G>A (p.Glu254=)
|
rs782774153
|
|
NM_001164277.2(SLC37A4):c.774A>C (p.Ser258=)
|
|
|
NM_001164277.2(SLC37A4):c.785+15G>A
|
|
|
NM_001164277.2(SLC37A4):c.785+19C>G
|
|
|
NM_001164277.2(SLC37A4):c.785+8G>A
|
rs782075266
|
|
NM_001164277.2(SLC37A4):c.786-17A>G
|
|
|
NM_001164277.2(SLC37A4):c.786-18_786-16del
|
rs1555191005
|
|
NM_001164277.2(SLC37A4):c.786-22_786-13del
|
|
|
NM_001164277.2(SLC37A4):c.786-6C>T
|
rs2134633894
|
|
NM_001164277.2(SLC37A4):c.786T>A (p.Gly262=)
|
rs2134633851
|
|
NM_001164277.2(SLC37A4):c.78C>T (p.Phe26=)
|
rs1943675742
|
|
NM_001164277.2(SLC37A4):c.792C>T (p.Ser264=)
|
|
|
NM_001164277.2(SLC37A4):c.795C>T (p.Tyr265=)
|
rs2134633831
|
|
NM_001164277.2(SLC37A4):c.804C>T (p.Ala268=)
|
rs1468281804
|
|
NM_001164277.2(SLC37A4):c.834C>A (p.Ile278=)
|
|
|
NM_001164277.2(SLC37A4):c.847C>T (p.Leu283=)
|
|
|
NM_001164277.2(SLC37A4):c.852A>G (p.Ser284=)
|
|
|
NM_001164277.2(SLC37A4):c.861C>T (p.Ala287=)
|
rs782246067
|
|
NM_001164277.2(SLC37A4):c.871+15G>A
|
|
|
NM_001164277.2(SLC37A4):c.871+17G>A
|
|
|
NM_001164277.2(SLC37A4):c.871+19C>G
|
|
|
NM_001164277.2(SLC37A4):c.871+19C>T
|
rs782487764
|
|
NM_001164277.2(SLC37A4):c.871+7G>C
|
rs782177602
|
|
NM_001164277.2(SLC37A4):c.871+8G>C
|
rs2134633461
|
|
NM_001164277.2(SLC37A4):c.872-10G>A
|
rs1555190776
|
|
NM_001164277.2(SLC37A4):c.872-15_872-9dup
|
rs782321213
|
|
NM_001164277.2(SLC37A4):c.872-17C>T
|
rs1286218803
|
|
NM_001164277.2(SLC37A4):c.872-4A>C
|
|
|
NM_001164277.2(SLC37A4):c.872-4A>G
|
|
|
NM_001164277.2(SLC37A4):c.872-8A>G
|
|
|
NM_001164277.2(SLC37A4):c.872C>T (p.Ala291Val)
|
rs200147602
|
|
NM_001164277.2(SLC37A4):c.873G>A (p.Ala291=)
|
rs974857648
|
|
NM_001164277.2(SLC37A4):c.879G>A (p.Leu293=)
|
|
|
NM_001164277.2(SLC37A4):c.87G>A (p.Lys29=)
|
rs1171604521
|
|
NM_001164277.2(SLC37A4):c.891G>A (p.Gly297=)
|
rs1388277495
|
|
NM_001164277.2(SLC37A4):c.891G>T (p.Gly297=)
|
rs1388277495
|
|
NM_001164277.2(SLC37A4):c.900C>T (p.Arg300=)
|
rs2134631794
|
|
NM_001164277.2(SLC37A4):c.906C>A (p.Gly302=)
|
rs374287329
|
|
NM_001164277.2(SLC37A4):c.909G>A (p.Leu303=)
|
rs1555190747
|
|
NM_001164277.2(SLC37A4):c.939G>A (p.Val313=)
|
rs782577230
|
|
NM_001164277.2(SLC37A4):c.939G>C (p.Val313=)
|
rs782577230
|
|
NM_001164277.2(SLC37A4):c.942C>T (p.Ser314=)
|
rs1555190722
|
|
NM_001164277.2(SLC37A4):c.948C>T (p.Tyr316=)
|
|
|
NM_001164277.2(SLC37A4):c.985+10A>G
|
rs2134631117
|
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NM_001164277.2(SLC37A4):c.985+15C>G
|
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NM_001164277.2(SLC37A4):c.985+18G>A
|
|
|
NM_001164277.2(SLC37A4):c.985+20C>T
|
rs1453624071
|
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NM_001164277.2(SLC37A4):c.985+9G>C
|
|
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NM_001164277.2(SLC37A4):c.986-13C>A
|
rs2134628756
|
|
NM_001164277.2(SLC37A4):c.986-14T>G
|
rs863224211
|
|
NM_001164277.2(SLC37A4):c.986-4G>A
|
|
|
NM_001164277.2(SLC37A4):c.999A>G (p.Val333=)
|
|
|
NM_001243177.4(ALDOA):c.1008C>T (p.Ile336=)
|
|
|
NM_001243177.4(ALDOA):c.1029G>A (p.Lys343=)
|
|
|
NM_001243177.4(ALDOA):c.1047C>T (p.Pro349=)
|
|
|
NM_001243177.4(ALDOA):c.1080G>A (p.Leu360=)
|
|
|
NM_001243177.4(ALDOA):c.1080G>T (p.Leu360=)
|
|
|
NM_001243177.4(ALDOA):c.1158C>T (p.Ala386=)
|
|
|
NM_001243177.4(ALDOA):c.1224C>T (p.Ser408=)
|
|
|
NM_001243177.4(ALDOA):c.1236C>T (p.Phe412=)
|
|
|
NM_001243177.4(ALDOA):c.1248C>T (p.His416=)
|
|
|
NM_001243177.4(ALDOA):c.1251C>T (p.Ala417=)
|
|
|
NM_001243177.4(ALDOA):c.184C>T (p.Leu62=)
|
|
|
NM_001243177.4(ALDOA):c.189C>T (p.Thr63=)
|
|
|
NM_001243177.4(ALDOA):c.288G>A (p.Lys96=)
|
|
|
NM_001243177.4(ALDOA):c.318C>T (p.Thr106=)
|
|
|
NM_001243177.4(ALDOA):c.364G>A (p.Asp122Asn)
|
|
|
NM_001243177.4(ALDOA):c.396C>T (p.Ile132=)
|
|
|
NM_001243177.4(ALDOA):c.408G>A (p.Glu136=)
|
|
|
NM_001243177.4(ALDOA):c.423G>A (p.Lys141=)
|
|
|
NM_001243177.4(ALDOA):c.447C>T (p.Pro149=)
|
|
|
NM_001243177.4(ALDOA):c.462C>T (p.Ser154=)
|
|
|
NM_001243177.4(ALDOA):c.525C>T (p.Gly175=)
|
|
|
NM_001243177.4(ALDOA):c.552G>C (p.Gly184=)
|
|
|
NM_001243177.4(ALDOA):c.576C>T (p.Tyr192=)
|
|
|
NM_001243177.4(ALDOA):c.582G>A (p.Lys194=)
|
|
|
NM_001243177.4(ALDOA):c.588A>C (p.Gly196=)
|
|
|
NM_001243177.4(ALDOA):c.630A>G (p.Glu210=)
|
|
|
NM_001243177.4(ALDOA):c.636C>T (p.Thr212=)
|
|
|
NM_001243177.4(ALDOA):c.684T>C (p.Tyr228=)
|
rs1596813728
|
|
NM_001243177.4(ALDOA):c.729T>C (p.Pro243=)
|
|
|
NM_001243177.4(ALDOA):c.780C>T (p.Thr260=)
|
|
|
NM_001243177.4(ALDOA):c.804C>T (p.Tyr268=)
|
|
|
NM_001243177.4(ALDOA):c.828C>T (p.Ile276=)
|
|
|
NM_001243177.4(ALDOA):c.867C>T (p.Thr289=)
|
|
|
NM_001243177.4(ALDOA):c.900T>C (p.His300=)
|
|
|
NM_001243177.4(ALDOA):c.912C>T (p.Ala304=)
|
|
|
NM_001243177.4(ALDOA):c.918G>A (p.Ala306=)
|
|
|
NM_001243177.4(ALDOA):c.951C>A (p.Pro317=)
|
|
|
NM_001243177.4(ALDOA):c.963G>C (p.Gly321=)
|
|
|
NM_001243177.4(ALDOA):c.966C>T (p.Ile322=)
|
|
|
NM_001352514.2(HLCS):c.1011G>A (p.Val337=)
|
|
|
NM_001352514.2(HLCS):c.1017T>C (p.Ile339=)
|
|
|
NM_001352514.2(HLCS):c.1026T>C (p.Tyr342=)
|
|
|
NM_001352514.2(HLCS):c.1029T>C (p.Ile343=)
|
|
|
NM_001352514.2(HLCS):c.1032C>A (p.Leu344=)
|
rs2066910824
|
|
NM_001352514.2(HLCS):c.1035C>T (p.Tyr345=)
|
|
|
NM_001352514.2(HLCS):c.1044G>A (p.Leu348=)
|
|
|
NM_001352514.2(HLCS):c.1059C>G (p.Leu353=)
|
rs765699943
|
|
NM_001352514.2(HLCS):c.1065C>T (p.Asp355=)
|
|
|
NM_001352514.2(HLCS):c.1068G>C (p.Pro356=)
|
|
|
NM_001352514.2(HLCS):c.1077C>T (p.Asp359=)
|
|
|
NM_001352514.2(HLCS):c.1084C>T (p.Leu362=)
|
rs1459880908
|
|
NM_001352514.2(HLCS):c.1104C>G (p.Thr368=)
|
|
|
NM_001352514.2(HLCS):c.1107G>A (p.Arg369=)
|
rs2146525599
|
|
NM_001352514.2(HLCS):c.1110G>A (p.Glu370=)
|
|
|
NM_001352514.2(HLCS):c.1119C>A (p.Pro373=)
|
|
|
NM_001352514.2(HLCS):c.1119C>G (p.Pro373=)
|
rs768927843
|
|
NM_001352514.2(HLCS):c.1122A>G (p.Glu374=)
|
rs780469041
|
|
NM_001352514.2(HLCS):c.1126C>T (p.Leu376=)
|
rs1450990152
|
|
NM_001352514.2(HLCS):c.1128G>A (p.Leu376=)
|
rs1199413324
|
|
NM_001352514.2(HLCS):c.1134G>A (p.Gln378=)
|
|
|
NM_001352514.2(HLCS):c.1137G>A (p.Lys379=)
|
|
|
NM_001352514.2(HLCS):c.1140C>T (p.Phe380=)
|
rs2066903072
|
|
NM_001352514.2(HLCS):c.1161A>G (p.Gly387=)
|
|
|
NM_001352514.2(HLCS):c.1167G>A (p.Lys389=)
|
rs1057523540
|
|
NM_001352514.2(HLCS):c.1182T>C (p.Ser394=)
|
|
|
NM_001352514.2(HLCS):c.1185A>G (p.Ser395=)
|
rs979308593
|
|
NM_001352514.2(HLCS):c.1185A>T (p.Ser395=)
|
rs979308593
|
|
NM_001352514.2(HLCS):c.1194C>G (p.Thr398=)
|
|
|
NM_001352514.2(HLCS):c.1197T>C (p.Phe399=)
|
|
|
NM_001352514.2(HLCS):c.1218C>T (p.Ser406=)
|
|
|
NM_001352514.2(HLCS):c.1230G>A (p.Leu410=)
|
|
|
NM_001352514.2(HLCS):c.1242C>A (p.Val414=)
|
|
|
NM_001352514.2(HLCS):c.1242C>T (p.Val414=)
|
|
|
NM_001352514.2(HLCS):c.1249T>C (p.Leu417=)
|
rs535891229
|
|
NM_001352514.2(HLCS):c.1257C>T (p.Phe419=)
|
rs757706257
|
|
NM_001352514.2(HLCS):c.1260C>T (p.Ser420=)
|
rs2146524449
|
|
NM_001352514.2(HLCS):c.1266T>C (p.Ala422=)
|
rs2146524399
|
|
NM_001352514.2(HLCS):c.1284G>A (p.Lys428=)
|
|
|
NM_001352514.2(HLCS):c.1287C>T (p.Leu429=)
|
|
|
NM_001352514.2(HLCS):c.1302T>C (p.Ser434=)
|
rs2146524204
|
|
NM_001352514.2(HLCS):c.1314C>T (p.Tyr438=)
|
rs2066890502
|
|
NM_001352514.2(HLCS):c.1323C>A (p.Gly441=)
|
|
|
NM_001352514.2(HLCS):c.1326C>A (p.Pro442=)
|
|
|
NM_001352514.2(HLCS):c.1330C>A (p.Arg444=)
|
rs139902499
|
|
NM_001352514.2(HLCS):c.1332G>C (p.Arg444=)
|
rs2146523893
|
|
NM_001352514.2(HLCS):c.1332G>T (p.Arg444=)
|
|
|
NM_001352514.2(HLCS):c.1356C>T (p.Gly452=)
|
rs756934917
|
|
NM_001352514.2(HLCS):c.1359C>T (p.His453=)
|
|
|
NM_001352514.2(HLCS):c.1374C>T (p.Asp458=)
|
rs771883068
|
|
NM_001352514.2(HLCS):c.1392G>C (p.Val464=)
|
|
|
NM_001352514.2(HLCS):c.1413C>A (p.Arg471=)
|
rs533602689
|
|
NM_001352514.2(HLCS):c.1419A>G (p.Gly473=)
|
|
|
NM_001352514.2(HLCS):c.1425T>G (p.Ala475=)
|
|
|
NM_001352514.2(HLCS):c.1437+10G>A
|
|
|
NM_001352514.2(HLCS):c.1437+13G>T
|
|
|
NM_001352514.2(HLCS):c.1437+14C>T
|
|
|
NM_001352514.2(HLCS):c.1437+15A>G
|
|
|
NM_001352514.2(HLCS):c.1437+20T>A
|
|
|
NM_001352514.2(HLCS):c.1437+8G>A
|
rs777565665
|
|
NM_001352514.2(HLCS):c.1438-17C>T
|
|
|
NM_001352514.2(HLCS):c.1438-6C>T
|
|
|
NM_001352514.2(HLCS):c.1450C>T (p.Leu484=)
|
|
|
NM_001352514.2(HLCS):c.1452A>C (p.Leu484=)
|
|
|
NM_001352514.2(HLCS):c.1458C>T (p.Pro486=)
|
|
|
NM_001352514.2(HLCS):c.1467C>T (p.Asn489=)
|
|
|
NM_001352514.2(HLCS):c.1473G>T (p.Val491=)
|
rs367611748
|
|
NM_001352514.2(HLCS):c.1482A>G (p.Pro494=)
|
rs2066584824
|
|
NM_001352514.2(HLCS):c.1509C>T (p.Ser503=)
|
|
|
NM_001352514.2(HLCS):c.1551C>A (p.Thr517=)
|
rs138442090
|
|
NM_001352514.2(HLCS):c.1551C>G (p.Thr517=)
|
|
|
NM_001352514.2(HLCS):c.1551C>T (p.Thr517=)
|
|
|
NM_001352514.2(HLCS):c.1581T>G (p.Val527=)
|
|
|
NM_001352514.2(HLCS):c.1608G>A (p.Leu536=)
|
|
|
NM_001352514.2(HLCS):c.1608G>T (p.Leu536=)
|
|
|
NM_001352514.2(HLCS):c.1620+15C>G
|
|
|
NM_001352514.2(HLCS):c.1620+17G>A
|
|
|
NM_001352514.2(HLCS):c.1620+7T>G
|
|
|
NM_001352514.2(HLCS):c.1620+8G>A
|
rs1569206652
|
|
NM_001352514.2(HLCS):c.1620+9T>G
|
rs2146492738
|
|
NM_001352514.2(HLCS):c.1620+9del
|
|
|
NM_001352514.2(HLCS):c.1621-11T>C
|
|
|
NM_001352514.2(HLCS):c.1621-19T>A
|
|
|
NM_001352514.2(HLCS):c.1621-8T>C
|
|
|
NM_001352514.2(HLCS):c.1627A>C (p.Arg543=)
|
rs2146336527
|
|
NM_001352514.2(HLCS):c.1629G>A (p.Arg543=)
|
rs1344897387
|
|
NM_001352514.2(HLCS):c.1632T>C (p.Asp544=)
|
rs2146336458
|
|
NM_001352514.2(HLCS):c.1635T>G (p.Pro545=)
|
rs2146336432
|
|
NM_001352514.2(HLCS):c.1644G>A (p.Gln548=)
|
rs1366041798
|
|
NM_001352514.2(HLCS):c.1659T>C (p.His553=)
|
|
|
NM_001352514.2(HLCS):c.1665C>T (p.Asp555=)
|
|
|
NM_001352514.2(HLCS):c.1668C>A (p.Ser556=)
|
rs771923409
|
|
NM_001352514.2(HLCS):c.1668C>T (p.Ser556=)
|
rs771923409
|
|
NM_001352514.2(HLCS):c.1683A>G (p.Lys561=)
|
rs2146336131
|
|
NM_001352514.2(HLCS):c.1686C>T (p.Ser562=)
|
rs141905941
|
|
NM_001352514.2(HLCS):c.1689C>A (p.Gly563=)
|
|
|
NM_001352514.2(HLCS):c.1695C>G (p.Leu565=)
|
rs138209330
|
|
NM_001352514.2(HLCS):c.1698T>G (p.Ser566=)
|
rs2146335962
|
|
NM_001352514.2(HLCS):c.1722G>A (p.Val574=)
|
|
|
NM_001352514.2(HLCS):c.1740C>G (p.Thr580=)
|
|
|
NM_001352514.2(HLCS):c.1743A>G (p.Pro581=)
|
|
|
NM_001352514.2(HLCS):c.1764C>G (p.Thr588=)
|
rs2146335640
|
|
NM_001352514.2(HLCS):c.1767C>T (p.Asn589=)
|
|
|
NM_001352514.2(HLCS):c.1773G>A (p.Glu591=)
|
rs771694153
|
|
NM_001352514.2(HLCS):c.1782A>C (p.Ser594=)
|
|
|
NM_001352514.2(HLCS):c.1794C>T (p.Phe598=)
|
rs1601665712
|
|
NM_001352514.2(HLCS):c.1797C>T (p.Asn599=)
|
rs2146335404
|
|
NM_001352514.2(HLCS):c.1800A>G (p.Leu600=)
|
|
|
NM_001352514.2(HLCS):c.1806C>T (p.Ile602=)
|
rs1240730503
|
|
NM_001352514.2(HLCS):c.1812C>T (p.Arg604=)
|
|
|
NM_001352514.2(HLCS):c.1819C>T (p.Leu607=)
|
|
|
NM_001352514.2(HLCS):c.1827C>T (p.Thr609=)
|
|
|
NM_001352514.2(HLCS):c.1830G>A (p.Lys610=)
|
|
|
NM_001352514.2(HLCS):c.1833G>A (p.Gln611=)
|
|
|
NM_001352514.2(HLCS):c.1834T>C (p.Leu612=)
|
|
|
NM_001352514.2(HLCS):c.1851G>A (p.Leu617=)
|
rs760230537
|
|
NM_001352514.2(HLCS):c.1857C>T (p.Ala619=)
|
rs759178651
|
|
NM_001352514.2(HLCS):c.1866C>G (p.Thr622=)
|
rs2146334911
|
|
NM_001352514.2(HLCS):c.1869C>G (p.Pro623=)
|
rs769822408
|
|
NM_001352514.2(HLCS):c.1869C>T (p.Pro623=)
|
rs769822408
|
|
NM_001352514.2(HLCS):c.1881T>C (p.Arg627=)
|
rs2146334744
|
|
NM_001352514.2(HLCS):c.1884C>T (p.Leu628=)
|
|
|
NM_001352514.2(HLCS):c.1885C>T (p.Leu629=)
|
|
|
NM_001352514.2(HLCS):c.1892+8G>T
|
rs2065029914
|
|
NM_001352514.2(HLCS):c.1893-11C>G
|
|
|
NM_001352514.2(HLCS):c.1893-14C>T
|
|
|
NM_001352514.2(HLCS):c.1893-22_1893-14dup
|
|
|
NM_001352514.2(HLCS):c.1893-5G>C
|
|
|
NM_001352514.2(HLCS):c.1894C>T (p.Leu632=)
|
|
|
NM_001352514.2(HLCS):c.1896G>A (p.Leu632=)
|
|
|
NM_001352514.2(HLCS):c.1938G>C (p.Ala646=)
|
rs370347318
|
|
NM_001352514.2(HLCS):c.1947G>A (p.Gln649=)
|
rs1031377645
|
|
NM_001352514.2(HLCS):c.1950C>A (p.Thr650=)
|
rs201813658
|
|
NM_001352514.2(HLCS):c.1950C>G (p.Thr650=)
|
rs201813658
|
|
NM_001352514.2(HLCS):c.1950C>T (p.Thr650=)
|
rs201813658
|
|
NM_001352514.2(HLCS):c.1956C>A (p.Gly652=)
|
|
|
NM_001352514.2(HLCS):c.1960+7C>T
|
|
|
NM_001352514.2(HLCS):c.1960+8A>G
|
rs2145776793
|
|
NM_001352514.2(HLCS):c.1960+8A>T
|
|
|
NM_001352514.2(HLCS):c.1960+9T>C
|
|
|
NM_001352514.2(HLCS):c.1961-12C>A
|
|
|
NM_001352514.2(HLCS):c.1961-12C>T
|
|
|
NM_001352514.2(HLCS):c.1962A>G (p.Gly654=)
|
rs757169763
|
|
NM_001352514.2(HLCS):c.1977G>A (p.Val659=)
|
rs886057075
|
|
NM_001352514.2(HLCS):c.1983G>C (p.Leu661=)
|
|
|
NM_001352514.2(HLCS):c.1989T>C (p.Pro663=)
|
rs1601141038
|
|
NM_001352514.2(HLCS):c.2029C>T (p.Leu677=)
|
|
|
NM_001352514.2(HLCS):c.2037C>A (p.Ser679=)
|
rs2145768209
|
|
NM_001352514.2(HLCS):c.2040G>A (p.Gln680=)
|
|
|
NM_001352514.2(HLCS):c.2041C>T (p.Leu681=)
|
rs2145768179
|
|
NM_001352514.2(HLCS):c.2046A>G (p.Gly682=)
|
|
|
NM_001352514.2(HLCS):c.2049G>A (p.Gln683=)
|
|
|
NM_001352514.2(HLCS):c.2055C>A (p.Ile685=)
|
|
|
NM_001352514.2(HLCS):c.2055C>T (p.Ile685=)
|
rs1568975308
|
|
NM_001352514.2(HLCS):c.2064C>T (p.Val688=)
|
|
|
NM_001352514.2(HLCS):c.2067G>A (p.Gln689=)
|
rs2089984668
|
|
NM_001352514.2(HLCS):c.2073G>A (p.Leu691=)
|
rs755088995
|
|
NM_001352514.2(HLCS):c.2079C>T (p.Ser693=)
|
|
|
NM_001352514.2(HLCS):c.2088C>A (p.Val696=)
|
|
|
NM_001352514.2(HLCS):c.2091G>A (p.Val697=)
|
rs773627772
|
|
NM_001352514.2(HLCS):c.2112C>G (p.Pro704=)
|
rs762221640
|
|
NM_001352514.2(HLCS):c.2112C>T (p.Pro704=)
|
rs762221640
|
|
NM_001352514.2(HLCS):c.2121+10G>A
|
rs2145767655
|
|
NM_001352514.2(HLCS):c.2121+14A>G
|
|
|
NM_001352514.2(HLCS):c.2121+16T>C
|
|
|
NM_001352514.2(HLCS):c.2121+8C>A
|
rs2089982138
|
|
NM_001352514.2(HLCS):c.2121+8C>T
|
rs2089982138
|
|
NM_001352514.2(HLCS):c.2121+9A>G
|
|
|
NM_001352514.2(HLCS):c.2122-13G>A
|
|
|
NM_001352514.2(HLCS):c.2122-19T>C
|
|
|
NM_001352514.2(HLCS):c.2122-6C>T
|
rs764724435
|
|
NM_001352514.2(HLCS):c.2134C>A (p.Arg712=)
|
|
|
NM_001352514.2(HLCS):c.2181C>A (p.Ile727=)
|
rs375456567
|
|
NM_001352514.2(HLCS):c.2184C>G (p.Gly728=)
|
|
|
NM_001352514.2(HLCS):c.2190T>C (p.Val730=)
|
rs2089756578
|
|
NM_001352514.2(HLCS):c.2196T>A (p.Val732=)
|
rs2145744309
|
|
NM_001352514.2(HLCS):c.2205A>C (p.Thr735=)
|
rs2145744246
|
|
NM_001352514.2(HLCS):c.2205A>G (p.Thr735=)
|
|
|
NM_001352514.2(HLCS):c.2205A>T (p.Thr735=)
|
|
|
NM_001352514.2(HLCS):c.2208C>G (p.Leu736=)
|
rs764487201
|
|
NM_001352514.2(HLCS):c.2220A>G (p.Thr740=)
|
rs2145744147
|
|
NM_001352514.2(HLCS):c.2236+13A>T
|
|
|
NM_001352514.2(HLCS):c.2236+16C>T
|
|
|
NM_001352514.2(HLCS):c.2236+17T>C
|
|
|
NM_001352514.2(HLCS):c.2236+20C>A
|
|
|
NM_001352514.2(HLCS):c.2237-19A>G
|
|
|
NM_001352514.2(HLCS):c.2237-6G>A
|
rs201208730
|
|
NM_001352514.2(HLCS):c.2247T>C (p.Phe749=)
|
rs2145732165
|
|
NM_001352514.2(HLCS):c.2259C>T (p.Asn753=)
|
rs760492059
|
|
NM_001352514.2(HLCS):c.2262T>C (p.Ser754=)
|
|
|
NM_001352514.2(HLCS):c.2268T>C (p.Pro756=)
|
rs2145731986
|
|
NM_001352514.2(HLCS):c.2289C>T (p.Leu763=)
|
|
|
NM_001352514.2(HLCS):c.2295A>G (p.Thr765=)
|
|
|
NM_001352514.2(HLCS):c.2298A>G (p.Glu766=)
|
|
|
NM_001352514.2(HLCS):c.2313C>T (p.His771=)
|
rs1376040224
|
|
NM_001352514.2(HLCS):c.2328G>A (p.Lys776=)
|
|
|
NM_001352514.2(HLCS):c.2331C>T (p.Pro777=)
|
rs2123576595
|
|
NM_001352514.2(HLCS):c.2334A>G (p.Leu778=)
|
rs2123576546
|
|
NM_001352514.2(HLCS):c.2337A>G (p.Arg779=)
|
|
|
NM_001352514.2(HLCS):c.2361C>G (p.Val787=)
|
|
|
NM_001352514.2(HLCS):c.2370G>C (p.Val790=)
|
|
|
NM_001352514.2(HLCS):c.2373G>T (p.Leu791=)
|
|
|
NM_001352514.2(HLCS):c.2385C>T (p.Ile795=)
|
rs747302103
|
|
NM_001352514.2(HLCS):c.2388A>G (p.Lys796=)
|
rs2123575791
|
|
NM_001352514.2(HLCS):c.2397G>A (p.Gln799=)
|
rs2123575709
|
|
NM_001352514.2(HLCS):c.2403A>G (p.Lys801=)
|
|
|
NM_001352514.2(HLCS):c.2406G>A (p.Gly802=)
|
|
|
NM_001352514.2(HLCS):c.2409C>G (p.Pro803=)
|
rs763530346
|
|
NM_001352514.2(HLCS):c.2409C>T (p.Pro803=)
|
|
|
NM_001352514.2(HLCS):c.2412C>T (p.Asn804=)
|
rs2089605319
|
|
NM_001352514.2(HLCS):c.2418C>T (p.Val806=)
|
rs759416272
|
|
NM_001352514.2(HLCS):c.2421T>C (p.Leu807=)
|
rs766430268
|
|
NM_001352514.2(HLCS):c.2424C>G (p.Pro808=)
|
rs762915830
|
|
NM_001352514.2(HLCS):c.2424C>T (p.Pro808=)
|
rs762915830
|
|
NM_001352514.2(HLCS):c.2433C>T (p.Tyr811=)
|
|
|
NM_001352514.2(HLCS):c.2436A>G (p.Arg812=)
|
|
|
NM_001352514.2(HLCS):c.2450+20C>T
|
rs2123574898
|
|
NM_001352514.2(HLCS):c.2450+8C>T
|
rs2123575052
|
|
NM_001352514.2(HLCS):c.2450+9T>C
|
|
|
NM_001352514.2(HLCS):c.2451-13T>C
|
rs2123556883
|
|
NM_001352514.2(HLCS):c.2451-15G>C
|
|
|
NM_001352514.2(HLCS):c.2451-18G>A
|
|
|
NM_001352514.2(HLCS):c.2451-19C>A
|
|
|
NM_001352514.2(HLCS):c.2451-19C>G
|
|
|
NM_001352514.2(HLCS):c.2451-8C>T
|
rs373177254
|
|
NM_001352514.2(HLCS):c.2466T>C (p.His822=)
|
|
|
NM_001352514.2(HLCS):c.2467C>T (p.Leu823=)
|
rs2123556668
|
|
NM_001352514.2(HLCS):c.2475C>T (p.Ser825=)
|
rs2089478015
|
|
NM_001352514.2(HLCS):c.2487A>G (p.Pro829=)
|
rs2123556491
|
|
NM_001352514.2(HLCS):c.2496C>A (p.Ser832=)
|
|
|
NM_001352514.2(HLCS):c.2499C>T (p.Ile833=)
|
|
|
NM_001352514.2(HLCS):c.2526C>G (p.Leu842=)
|
rs147256659
|
|
NM_001352514.2(HLCS):c.2529G>A (p.Gln843=)
|
rs767700692
|
|
NM_001352514.2(HLCS):c.2547C>G (p.Gly849=)
|
rs768097284
|
|
NM_001352514.2(HLCS):c.2547C>T (p.Gly849=)
|
|
|
NM_001352514.2(HLCS):c.2565C>T (p.His855=)
|
|
|
NM_001352514.2(HLCS):c.2580C>T (p.Ser860=)
|
|
|
NM_001352514.2(HLCS):c.2601C>T (p.Leu867=)
|
|
|
NM_001352514.2(HLCS):c.2614C>A (p.Arg872=)
|
|
|
NM_001352514.2(HLCS):c.471A>C (p.Gly157=)
|
rs2146535946
|
|
NM_001352514.2(HLCS):c.493+10T>C
|
rs1601811088
|
|
NM_001352514.2(HLCS):c.493+12T>C
|
|
|
NM_001352514.2(HLCS):c.493+15A>G
|
|
|
NM_001352514.2(HLCS):c.493+18A>C
|
|
|
NM_001352514.2(HLCS):c.493+20G>A
|
|
|
NM_001352514.2(HLCS):c.494-17T>A
|
|
|
NM_001352514.2(HLCS):c.494-25TC[3]
|
|
|
NM_001352514.2(HLCS):c.494-25TC[6]
|
rs146532042
|
|
NM_001352514.2(HLCS):c.494-7G>A
|
|
|
NM_001352514.2(HLCS):c.494-7G>C
|
rs1437015433
|
|
NM_001352514.2(HLCS):c.494-8T>C
|
rs778287214
|
|
NM_001352514.2(HLCS):c.494-9A>T
|
|
|
NM_001352514.2(HLCS):c.504G>A (p.Leu168=)
|
rs2066944309
|
|
NM_001352514.2(HLCS):c.507G>A (p.Gln169=)
|
|
|
NM_001352514.2(HLCS):c.516T>C (p.Thr172=)
|
rs752570659
|
|
NM_001352514.2(HLCS):c.517C>T (p.Leu173=)
|
|
|
NM_001352514.2(HLCS):c.537G>A (p.Gln179=)
|
rs2146529501
|
|
NM_001352514.2(HLCS):c.546C>T (p.Asn182=)
|
|
|
NM_001352514.2(HLCS):c.555C>T (p.Ala185=)
|
|
|
NM_001352514.2(HLCS):c.567G>A (p.Glu189=)
|
rs61732504
|
|
NM_001352514.2(HLCS):c.570G>T (p.Pro190=)
|
|
|
NM_001352514.2(HLCS):c.579A>G (p.Glu193=)
|
rs2146529125
|
|
NM_001352514.2(HLCS):c.582T>G (p.Pro194=)
|
|
|
NM_001352514.2(HLCS):c.585T>A (p.Ser195=)
|
|
|
NM_001352514.2(HLCS):c.597G>A (p.Lys199=)
|
|
|
NM_001352514.2(HLCS):c.600T>C (p.Pro200=)
|
rs2066937541
|
|
NM_001352514.2(HLCS):c.606G>A (p.Gln202=)
|
|
|
NM_001352514.2(HLCS):c.633T>C (p.Asp211=)
|
|
|
NM_001352514.2(HLCS):c.636C>T (p.Asp212=)
|
|
|
NM_001352514.2(HLCS):c.678T>C (p.Ser226=)
|
rs2146528574
|
|
NM_001352514.2(HLCS):c.684T>G (p.Ser228=)
|
rs2146528551
|
|
NM_001352514.2(HLCS):c.687G>C (p.Gly229=)
|
rs2146528539
|
|
NM_001352514.2(HLCS):c.702G>A (p.Gly234=)
|
rs373193883
|
|
NM_001352514.2(HLCS):c.711C>T (p.Asp237=)
|
rs754558925
|
|
NM_001352514.2(HLCS):c.732G>A (p.Glu244=)
|
|
|
NM_001352514.2(HLCS):c.737A>G (p.Tyr246Cys)
|
rs765150200
|
|
NM_001352514.2(HLCS):c.741C>T (p.His247=)
|
rs761937078
|
|
NM_001352514.2(HLCS):c.759C>T (p.Cys253=)
|
rs751148714
|
|
NM_001352514.2(HLCS):c.765G>A (p.Glu255=)
|
|
|
NM_001352514.2(HLCS):c.783C>T (p.Asn261=)
|
rs1601805290
|
|
NM_001352514.2(HLCS):c.792T>C (p.Ile264=)
|
rs775055913
|
|
NM_001352514.2(HLCS):c.804G>A (p.Lys268=)
|
rs1228716242
|
|
NM_001352514.2(HLCS):c.810G>T (p.Ala270=)
|
|
|
NM_001352514.2(HLCS):c.816C>G (p.Ala272=)
|
rs376665169
|
|
NM_001352514.2(HLCS):c.828A>G (p.Pro276=)
|
rs2066924267
|
|
NM_001352514.2(HLCS):c.834T>C (p.Leu278=)
|
rs2146527642
|
|
NM_001352514.2(HLCS):c.846T>C (p.Tyr282=)
|
|
|
NM_001352514.2(HLCS):c.873T>C (p.Asp291=)
|
|
|
NM_001352514.2(HLCS):c.879C>T (p.Thr293=)
|
|
|
NM_001352514.2(HLCS):c.882C>T (p.Ser294=)
|
|
|
NM_001352514.2(HLCS):c.915G>A (p.Thr305=)
|
rs1000269533
|
|
NM_001352514.2(HLCS):c.924A>G (p.Ala308=)
|
|
|
NM_001352514.2(HLCS):c.927C>A (p.Pro309=)
|
|
|
NM_001352514.2(HLCS):c.933C>T (p.Ile311=)
|
rs1057523220
|
|
NM_001352514.2(HLCS):c.939C>G (p.Leu313=)
|
|
|
NM_001352514.2(HLCS):c.942T>C (p.Tyr314=)
|
rs1232499269
|
|
NM_001352514.2(HLCS):c.945G>T (p.Val315=)
|
rs2146526787
|
|
NM_001352514.2(HLCS):c.951C>G (p.Ser317=)
|
rs185480832
|
|
NM_001352514.2(HLCS):c.963A>G (p.Glu321=)
|
rs767893846
|
|
NM_001352514.2(HLCS):c.978C>T (p.Phe326=)
|
|
|
NM_001352514.2(HLCS):c.984G>A (p.Glu328=)
|
|
|
NM_001352514.2(HLCS):c.990G>A (p.Arg330=)
|
rs771741236
|
|
NM_001352514.2(HLCS):c.990G>T (p.Arg330=)
|
|
|
NM_001352514.2(HLCS):c.997C>T (p.Leu333=)
|
rs1245601073
|
|
NM_001352514.2(HLCS):c.999G>T (p.Leu333=)
|
rs1324605554
|
|
NM_001360016.2(G6PD):c.1002C>T (p.Thr334=)
|
|
|
NM_001360016.2(G6PD):c.1020C>T (p.Val340=)
|
|
|
NM_001360016.2(G6PD):c.1051+11C>T
|
rs1258960910
|
|
NM_001360016.2(G6PD):c.1052-16C>A
|
|
|
NM_001360016.2(G6PD):c.1053G>A (p.Gly351=)
|
rs782533137
|
|
NM_001360016.2(G6PD):c.1053G>T (p.Gly351=)
|
|
|
NM_001360016.2(G6PD):c.1056G>A (p.Val352=)
|
|
|
NM_001360016.2(G6PD):c.1098G>A (p.Lys366=)
|
rs2070354836
|
|
NM_001360016.2(G6PD):c.1108A>C (p.Arg370=)
|
|
|
NM_001360016.2(G6PD):c.1134C>T (p.Gly378=)
|
|
|
NM_001360016.2(G6PD):c.1182G>A (p.Val394=)
|
rs2148328863
|
|
NM_001360016.2(G6PD):c.1197C>T (p.Ala399=)
|
|
|
NM_001360016.2(G6PD):c.120+13C>G
|
|
|
NM_001360016.2(G6PD):c.120+14A>T
|
|
|
NM_001360016.2(G6PD):c.120+7A>G
|
rs369904290
|
|
NM_001360016.2(G6PD):c.120+9C>T
|
rs886044853
|
|
NM_001360016.2(G6PD):c.1203C>T (p.Tyr401=)
|
rs2148328821
|
|
NM_001360016.2(G6PD):c.1206C>G (p.Thr402=)
|
|
|
NM_001360016.2(G6PD):c.1209G>A (p.Lys403=)
|
rs1355739430
|
|
NM_001360016.2(G6PD):c.121-19C>A
|
|
|
NM_001360016.2(G6PD):c.121-4A>C
|
|
|
NM_001360016.2(G6PD):c.121-5C>T
|
|
|
NM_001360016.2(G6PD):c.1218C>T (p.Thr406=)
|
|
|
NM_001360016.2(G6PD):c.1227G>A (p.Pro409=)
|
rs781879876
|
|
NM_001360016.2(G6PD):c.1260G>A (p.Leu420=)
|
rs2148328776
|
|
NM_001360016.2(G6PD):c.1266G>C (p.Leu422=)
|
rs2148328772
|
|
NM_001360016.2(G6PD):c.1269C>T (p.Thr423=)
|
rs2148328766
|
|
NM_001360016.2(G6PD):c.1287+7T>C
|
|
|
NM_001360016.2(G6PD):c.1288-11C>T
|
|
|
NM_001360016.2(G6PD):c.1288-12T>A
|
rs2148328659
|
|
NM_001360016.2(G6PD):c.1288-13C>G
|
|
|
NM_001360016.2(G6PD):c.1288-14T>A
|
|
|
NM_001360016.2(G6PD):c.1288-15C>T
|
|
|
NM_001360016.2(G6PD):c.1288-16A>C
|
|
|
NM_001360016.2(G6PD):c.1288-17C>G
|
|
|
NM_001360016.2(G6PD):c.1288-4A>G
|
|
|
NM_001360016.2(G6PD):c.1288-5C>T
|
|
|
NM_001360016.2(G6PD):c.1288-8C>A
|
rs2148328644
|
|
NM_001360016.2(G6PD):c.1288-8C>T
|
rs2148328644
|
|
NM_001360016.2(G6PD):c.1293G>A (p.Val431=)
|
|
|
NM_001360016.2(G6PD):c.1305C>T (p.Asp435=)
|
|
|
NM_001360016.2(G6PD):c.1323C>T (p.Ile441=)
|
|
|
NM_001360016.2(G6PD):c.1324C>T (p.Leu442=)
|
|
|
NM_001360016.2(G6PD):c.1326G>A (p.Leu442=)
|
|
|
NM_001360016.2(G6PD):c.132C>G (p.Ala44=)
|
|
|
NM_001360016.2(G6PD):c.1344C>T (p.Ser448=)
|
rs2148328562
|
|
NM_001360016.2(G6PD):c.1364+10A>G
|
|
|
NM_001360016.2(G6PD):c.1364+15C>T
|
rs2148328536
|
|
NM_001360016.2(G6PD):c.1364+16C>T
|
|
|
NM_001360016.2(G6PD):c.1364+17G>A
|
|
|
NM_001360016.2(G6PD):c.1364+18G>A
|
|
|
NM_001360016.2(G6PD):c.1365-19C>T
|
|
|
NM_001360016.2(G6PD):c.1365-5C>T
|
rs886044905
|
|
NM_001360016.2(G6PD):c.1365-8C>A
|
|
|
NM_001360016.2(G6PD):c.1365-8C>T
|
|
|
NM_001360016.2(G6PD):c.1371G>A (p.Glu457=)
|
|
|
NM_001360016.2(G6PD):c.1402C>T (p.Leu468=)
|
|
|
NM_001360016.2(G6PD):c.1422G>C (p.Leu474=)
|
rs2148328378
|
|
NM_001360016.2(G6PD):c.1446T>C (p.Tyr482=)
|
|
|
NM_001360016.2(G6PD):c.1457+10G>A
|
rs2148328331
|
|
NM_001360016.2(G6PD):c.1457+11G>C
|
|
|
NM_001360016.2(G6PD):c.1457+11G>T
|
|
|
NM_001360016.2(G6PD):c.1457+12G>A
|
|
|
NM_001360016.2(G6PD):c.1457+14G>T
|
|
|
NM_001360016.2(G6PD):c.1457+15G>A
|
|
|
NM_001360016.2(G6PD):c.1457+17G>A
|
|
|
NM_001360016.2(G6PD):c.1457+9A>T
|
|
|
NM_001360016.2(G6PD):c.1458-13C>T
|
rs371772243
|
|
NM_001360016.2(G6PD):c.1458-7T>A
|
|
|
NM_001360016.2(G6PD):c.1458-7T>C
|
|
|
NM_001360016.2(G6PD):c.1467C>A (p.Pro489=)
|
rs2148328181
|
|
NM_001360016.2(G6PD):c.1470G>C (p.Thr490=)
|
|
|
NM_001360016.2(G6PD):c.1491G>A (p.Lys497=)
|
|
|
NM_001360016.2(G6PD):c.1536C>G (p.Pro512=)
|
|
|
NM_001360016.2(G6PD):c.1536C>T (p.Pro512=)
|
|
|
NM_001360016.2(G6PD):c.1545C>T (p.Leu515=)
|
|
|
NM_001360016.2(G6PD):c.158+16C>T
|
|
|
NM_001360016.2(G6PD):c.158+17A>G
|
|
|
NM_001360016.2(G6PD):c.159-11C>T
|
|
|
NM_001360016.2(G6PD):c.159-16T>C
|
|
|
NM_001360016.2(G6PD):c.159-17C>T
|
|
|
NM_001360016.2(G6PD):c.159-8G>T
|
rs2148331979
|
|
NM_001360016.2(G6PD):c.165G>A (p.Leu55=)
|
|
|
NM_001360016.2(G6PD):c.168C>T (p.Phe56=)
|
rs2148331964
|
|
NM_001360016.2(G6PD):c.210T>C (p.Tyr70=)
|
|
|
NM_001360016.2(G6PD):c.21G>A (p.Leu7=)
|
|
|
NM_001360016.2(G6PD):c.240C>A (p.Ile80=)
|
|
|
NM_001360016.2(G6PD):c.268-12C>T
|
|
|
NM_001360016.2(G6PD):c.268-13C>T
|
|
|
NM_001360016.2(G6PD):c.268-24TGTC[2]
|
|
|
NM_001360016.2(G6PD):c.268-6T>C
|
|
|
NM_001360016.2(G6PD):c.270C>T (p.Ala90=)
|
|
|
NM_001360016.2(G6PD):c.273C>G (p.Thr91=)
|
|
|
NM_001360016.2(G6PD):c.297G>A (p.Glu99=)
|
rs2070395767
|
|
NM_001360016.2(G6PD):c.30C>A (p.Thr10=)
|
rs982197712
|
|
NM_001360016.2(G6PD):c.318C>G (p.Ser106=)
|
|
|
NM_001360016.2(G6PD):c.318C>T (p.Ser106=)
|
rs2148331419
|
|
NM_001360016.2(G6PD):c.321T>C (p.Tyr107=)
|
rs2148331412
|
|
NM_001360016.2(G6PD):c.345A>G (p.Ala115=)
|
|
|
NM_001360016.2(G6PD):c.348C>T (p.Ala116=)
|
|
|
NM_001360016.2(G6PD):c.359G>A (p.Arg120His)
|
rs782820967
|
|
NM_001360016.2(G6PD):c.376A>T (p.Asn126Tyr)
|
rs1050829
|
|
NM_001360016.2(G6PD):c.384C>T (p.Leu128=)
|
rs2148331335
|
|
NM_001360016.2(G6PD):c.414C>T (p.Phe138=)
|
rs2148331303
|
|
NM_001360016.2(G6PD):c.418C>T (p.Leu140=)
|
|
|
NM_001360016.2(G6PD):c.423C>G (p.Ala141=)
|
rs782627357
|
|
NM_001360016.2(G6PD):c.465C>T (p.His155=)
|
|
|
NM_001360016.2(G6PD):c.485+12C>T
|
|
|
NM_001360016.2(G6PD):c.485+14T>C
|
|
|
NM_001360016.2(G6PD):c.485+15T>A
|
|
|
NM_001360016.2(G6PD):c.485+17C>T
|
|
|
NM_001360016.2(G6PD):c.486-6C>T
|
|
|
NM_001360016.2(G6PD):c.501C>T (p.Ile167=)
|
|
|
NM_001360016.2(G6PD):c.504C>T (p.Ile168=)
|
|
|
NM_001360016.2(G6PD):c.510G>A (p.Glu170=)
|
|
|
NM_001360016.2(G6PD):c.546G>C (p.Arg182=)
|
|
|
NM_001360016.2(G6PD):c.558C>T (p.His186=)
|
|
|
NM_001360016.2(G6PD):c.582C>T (p.Asp194=)
|
|
|
NM_001360016.2(G6PD):c.585G>A (p.Gln195=)
|
|
|
NM_001360016.2(G6PD):c.606C>T (p.Tyr202=)
|
|
|
NM_001360016.2(G6PD):c.60T>C (p.Leu20=)
|
|
|
NM_001360016.2(G6PD):c.633C>G (p.Leu211=)
|
rs781866029
|
|
NM_001360016.2(G6PD):c.644+10A>G
|
|
|
NM_001360016.2(G6PD):c.644+19C>T
|
|
|
NM_001360016.2(G6PD):c.644+7C>T
|
|
|
NM_001360016.2(G6PD):c.644+9A>C
|
rs1279844136
|
|
NM_001360016.2(G6PD):c.645-10C>G
|
|
|
NM_001360016.2(G6PD):c.645-14G>T
|
|
|
NM_001360016.2(G6PD):c.645-9T>C
|
rs2148330346
|
|
NM_001360016.2(G6PD):c.672C>T (p.Ile224=)
|
rs2148330315
|
|
NM_001360016.2(G6PD):c.687C>T (p.Asn229=)
|
|
|
NM_001360016.2(G6PD):c.693C>T (p.Ala231=)
|
|
|
NM_001360016.2(G6PD):c.720C>T (p.Pro240=)
|
rs2148330281
|
|
NM_001360016.2(G6PD):c.753T>C (p.Asp251=)
|
|
|
NM_001360016.2(G6PD):c.770+12T>C
|
|
|
NM_001360016.2(G6PD):c.770+8C>T
|
|
|
NM_001360016.2(G6PD):c.771-13C>A
|
|
|
NM_001360016.2(G6PD):c.771-13C>T
|
|
|
NM_001360016.2(G6PD):c.771-20C>G
|
|
|
NM_001360016.2(G6PD):c.786C>T (p.Asn262=)
|
rs1179691681
|
|
NM_001360016.2(G6PD):c.78C>T (p.Phe26=)
|
rs1487624588
|
|
NM_001360016.2(G6PD):c.804G>A (p.Leu268=)
|
|
|
NM_001360016.2(G6PD):c.828C>T (p.Pro276=)
|
|
|
NM_001360016.2(G6PD):c.840C>T (p.Asn280=)
|
|
|
NM_001360016.2(G6PD):c.849C>T (p.Asp283=)
|
|
|
NM_001360016.2(G6PD):c.864+10G>T
|
rs2070368182
|
|
NM_001360016.2(G6PD):c.864+13C>T
|
|
|
NM_001360016.2(G6PD):c.864+16C>G
|
|
|
NM_001360016.2(G6PD):c.864+17A>G
|
|
|
NM_001360016.2(G6PD):c.864+7G>A
|
rs782256985
|
|
NM_001360016.2(G6PD):c.864+8dup
|
rs782714017
|
|
NM_001360016.2(G6PD):c.865-18C>T
|
|
|
NM_001360016.2(G6PD):c.867C>T (p.Val289=)
|
|
|
NM_001360016.2(G6PD):c.87G>A (p.Ser29=)
|
|
|
NM_001360016.2(G6PD):c.894G>T (p.Val298=)
|
|
|
NM_001360016.2(G6PD):c.909G>A (p.Val303=)
|
|
|
NM_001360016.2(G6PD):c.915G>A (p.Leu305=)
|
|
|
NM_001360016.2(G6PD):c.924C>T (p.Tyr308=)
|
|
|
NM_001360016.2(G6PD):c.939T>C (p.Asp313=)
|
|
|
NM_001360016.2(G6PD):c.969G>A (p.Leu323=)
|
rs2148329332
|
|
NM_001365304.2(LOC112694756):c.*1049+12G>A
|
|
|
NM_001365304.2(LOC112694756):c.*1049+17T>C
|
|
|
NM_001365304.2(LOC112694756):c.*1049+20A>G
|
|
|
NM_001365304.2(LOC112694756):c.*1049+7C>T
|
|
|
NM_001365304.2(LOC112694756):c.*1049+8T>C
|
|
|
NM_001365304.2(LOC112694756):c.*1050-10C>T
|
|
|
NM_001365304.2(LOC112694756):c.*1050-12C>T
|
|
|
NM_001365304.2(LOC112694756):c.*1050-7C>T
|
|
|
NM_001365304.2(LOC112694756):c.*1050-9G>A
|
|
|
NM_001365304.2(LOC112694756):c.*1133+11A>G
|
|
|
NM_001365304.2(LOC112694756):c.*1134-12G>C
|
|
|
NM_001365304.2(LOC112694756):c.*1134-17C>T
|
|
|
NM_001365304.2(LOC112694756):c.*1134-4C>T
|
|
|
NM_001365304.2(LOC112694756):c.*1308+15C>T
|
|
|
NM_001365304.2(LOC112694756):c.*1309-7T>G
|
|
|
NM_001365304.2(LOC112694756):c.*1309-8C>T
|
|
|
NM_001365304.2(LOC112694756):c.*1508+9A>T
|
|
|
NM_001365304.2(LOC112694756):c.*1508+9_*1508+19dup
|
|
|
NM_001365304.2(LOC112694756):c.*1509-11T>C
|
|
|
NM_001365304.2(LOC112694756):c.*1509-14C>A
|
|
|
NM_001365304.2(LOC112694756):c.*1509-14C>T
|
|
|
NM_001365304.2(LOC112694756):c.*1509-16C>T
|
|
|
NM_001365304.2(LOC112694756):c.*1509-17C>T
|
|
|
NM_001365304.2(LOC112694756):c.*1509-18A>T
|
|
|
NM_001365304.2(LOC112694756):c.*622-11G>C
|
|
|
NM_001365304.2(LOC112694756):c.*622-15A>G
|
|
|
NM_001365304.2(LOC112694756):c.*622-3del
|
|
|
NM_001365304.2(LOC112694756):c.*833+10G>A
|
|
|
NM_001365304.2(LOC112694756):c.*833+16C>T
|
|
|
NM_001365304.2(LOC112694756):c.*833+17C>T
|
|
|
NM_001365304.2(LOC112694756):c.*833+18G>A
|
|
|
NM_001365304.2(LOC112694756):c.*833+19G>A
|
|
|
NM_001365304.2(LOC112694756):c.*833+9A>C
|
|
|
NM_001365304.2(LOC112694756):c.*834-14C>T
|
|
|
NM_001365304.2(LOC112694756):c.*834-19G>A
|
|
|
NM_001365304.2(LOC112694756):c.*888+8C>T
|
|
|
NM_001370658.1(BTD):c.-16-19T>C
|
|
|
NM_001370658.1(BTD):c.-16-5T>C
|
|
|
NM_001370658.1(BTD):c.-16-7A>G
|
|
|
NM_001370658.1(BTD):c.-16-7A>T
|
|
|
NM_001370658.1(BTD):c.-16-7del
|
|
|
NM_001370658.1(BTD):c.-17+12_-17+27dup
|
|
|
NM_001370658.1(BTD):c.-17+16G>A
|
|
|
NM_001370658.1(BTD):c.-17+16G>C
|
|
|
NM_001370658.1(BTD):c.-17+20C>A
|
|
|
NM_001370658.1(BTD):c.-17+20_-17+40dup
|
|
|
NM_001370658.1(BTD):c.-17+23_-17+27dup
|
rs775790954
|
|
NM_001370658.1(BTD):c.-17+7A>G
|
|
|
NM_001370658.1(BTD):c.-17+7A>T
|
|
|
NM_001370658.1(BTD):c.-17+8G>C
|
|
|
NM_001370658.1(BTD):c.-1T>C
|
|
|
NM_001370658.1(BTD):c.-28C>T
|
rs2125312689
|
|
NM_001370658.1(BTD):c.1008A>T (p.Pro336=)
|
|
|
NM_001370658.1(BTD):c.1026A>G (p.Leu342=)
|
rs1367244547
|
|
NM_001370658.1(BTD):c.1035G>A (p.Leu345=)
|
rs768786956
|
|
NM_001370658.1(BTD):c.1038A>C (p.Ser346=)
|
|
|
NM_001370658.1(BTD):c.1041C>A (p.Gly347=)
|
rs142421934
|
|
NM_001370658.1(BTD):c.1047G>T (p.Pro349=)
|
|
|
NM_001370658.1(BTD):c.1068G>A (p.Gln356=)
|
rs891263072
|
|
NM_001370658.1(BTD):c.1077C>T (p.His359=)
|
|
|
NM_001370658.1(BTD):c.1086G>A (p.Glu362=)
|
rs1559600186
|
|
NM_001370658.1(BTD):c.1092C>A (p.Thr364=)
|
rs753278397
|
|
NM_001370658.1(BTD):c.1104G>T (p.Val368=)
|
rs750109648
|
|
NM_001370658.1(BTD):c.1110T>C (p.Ala370=)
|
rs1473669802
|
|
NM_001370658.1(BTD):c.1140T>C (p.Tyr380=)
|
|
|
NM_001370658.1(BTD):c.1143C>T (p.Asp381=)
|
rs2125504297
|
|
NM_001370658.1(BTD):c.114T>C (p.Tyr38=)
|
rs2125453888
|
|
NM_001370658.1(BTD):c.1158C>A (p.Val386=)
|
rs956882463
|
|
NM_001370658.1(BTD):c.1164C>G (p.Val388=)
|
|
|
NM_001370658.1(BTD):c.1164C>T (p.Val388=)
|
|
|
NM_001370658.1(BTD):c.1170A>C (p.Gly390=)
|
rs975896326
|
|
NM_001370658.1(BTD):c.1182T>C (p.Tyr394=)
|
rs368320941
|
|
NM_001370658.1(BTD):c.1191C>T (p.Val397=)
|
|
|
NM_001370658.1(BTD):c.1197C>T (p.Ser399=)
|
|
|
NM_001370658.1(BTD):c.1203C>T (p.Gly401=)
|
rs2125504914
|
|
NM_001370658.1(BTD):c.1215T>C (p.Tyr405=)
|
|
|
NM_001370658.1(BTD):c.1236C>T (p.Thr412=)
|
rs1575030932
|
|
NM_001370658.1(BTD):c.1248G>A (p.Glu416=)
|
rs1208591351
|
|
NM_001370658.1(BTD):c.1251G>C (p.Leu417=)
|
rs771116095
|
|
NM_001370658.1(BTD):c.1257C>A (p.Ala419=)
|
|
|
NM_001370658.1(BTD):c.1257C>T (p.Ala419=)
|
|
|
NM_001370658.1(BTD):c.1260G>A (p.Leu420=)
|
|
|
NM_001370658.1(BTD):c.1275G>T (p.Gly425=)
|
rs2065662696
|
|
NM_001370658.1(BTD):c.129T>C (p.Tyr43=)
|
rs2125453999
|
|
NM_001370658.1(BTD):c.1314T>C (p.Cys438=)
|
|
|
NM_001370658.1(BTD):c.1341C>A (p.Gly447=)
|
|
|
NM_001370658.1(BTD):c.1350C>T (p.Thr450=)
|
|
|
NM_001370658.1(BTD):c.1368A>G (p.Thr456=)
|
|
|
NM_001370658.1(BTD):c.1380G>A (p.Gly460=)
|
|
|
NM_001370658.1(BTD):c.1396C>T (p.Leu466=)
|
rs2125506331
|
|
NM_001370658.1(BTD):c.1404C>A (p.Gly468=)
|
|
|
NM_001370658.1(BTD):c.1419C>G (p.Ser473=)
|
rs1269007233
|
|
NM_001370658.1(BTD):c.141C>T (p.Ser47=)
|
|
|
NM_001370658.1(BTD):c.1422T>C (p.Tyr474=)
|
|
|
NM_001370658.1(BTD):c.1434G>A (p.Leu478=)
|
|
|
NM_001370658.1(BTD):c.1479C>G (p.Gly493=)
|
|
|
NM_001370658.1(BTD):c.1500C>T (p.Phe500=)
|
|
|
NM_001370658.1(BTD):c.1515G>A (p.Arg505=)
|
rs2125507062
|
|
NM_001370658.1(BTD):c.1527G>A (p.Gly509=)
|
rs1388523400
|
|
NM_001370658.1(BTD):c.1530G>A (p.Leu510=)
|
|
|
NM_001370658.1(BTD):c.1551G>T (p.Gly517=)
|
|
|
NM_001370658.1(BTD):c.177C>G (p.Arg59=)
|
|
|
NM_001370658.1(BTD):c.180A>G (p.Gln60=)
|
|
|
NM_001370658.1(BTD):c.187T>C (p.Leu63=)
|
|
|
NM_001370658.1(BTD):c.204G>A (p.Gln68=)
|
rs781457122
|
|
NM_001370658.1(BTD):c.219T>C (p.Tyr73=)
|
|
|
NM_001370658.1(BTD):c.225G>A (p.Gln75=)
|
rs1423985186
|
|
NM_001370658.1(BTD):c.249+19A>C
|
|
|
NM_001370658.1(BTD):c.250-15T>C
|
|
|
NM_001370658.1(BTD):c.250-16A>T
|
|
|
NM_001370658.1(BTD):c.250-18T>C
|
|
|
NM_001370658.1(BTD):c.267G>T (p.Val89=)
|
rs2125485561
|
|
NM_001370658.1(BTD):c.279T>C (p.Asp93=)
|
|
|
NM_001370658.1(BTD):c.291A>G (p.Gly97=)
|
|
|
NM_001370658.1(BTD):c.339G>T (p.Pro113=)
|
rs181743799
|
|
NM_001370658.1(BTD):c.345C>T (p.Pro115=)
|
rs767937184
|
|
NM_001370658.1(BTD):c.357G>A (p.Arg119=)
|
rs2125486415
|
|
NM_001370658.1(BTD):c.366A>T (p.Pro122=)
|
|
|
NM_001370658.1(BTD):c.372G>A (p.Leu124=)
|
|
|
NM_001370658.1(BTD):c.387C>T (p.Phe129=)
|
|
|
NM_001370658.1(BTD):c.399+10G>A
|
|
|
NM_001370658.1(BTD):c.399+19C>T
|
|
|
NM_001370658.1(BTD):c.399+6dup
|
|
|
NM_001370658.1(BTD):c.399+8C>T
|
|
|
NM_001370658.1(BTD):c.399+8del
|
rs2125487004
|
|
NM_001370658.1(BTD):c.400-16C>T
|
|
|
NM_001370658.1(BTD):c.400-18C>T
|
|
|
NM_001370658.1(BTD):c.400-6C>T
|
rs2125499988
|
|
NM_001370658.1(BTD):c.400-7C>T
|
|
|
NM_001370658.1(BTD):c.400-8T>C
|
rs758512428
|
|
NM_001370658.1(BTD):c.402G>A (p.Val134=)
|
rs1003151133
|
|
NM_001370658.1(BTD):c.405C>G (p.Leu135=)
|
|
|
NM_001370658.1(BTD):c.411C>A (p.Arg137=)
|
|
|
NM_001370658.1(BTD):c.417T>C (p.Ser139=)
|
rs2125500181
|
|
NM_001370658.1(BTD):c.429C>T (p.Ile143=)
|
rs2065628963
|
|
NM_001370658.1(BTD):c.435A>T (p.Gly145=)
|
rs2125500346
|
|
NM_001370658.1(BTD):c.456T>C (p.Asn152=)
|
|
|
NM_001370658.1(BTD):c.471G>A (p.Glu157=)
|
|
|
NM_001370658.1(BTD):c.516C>T (p.Tyr172=)
|
|
|
NM_001370658.1(BTD):c.525C>T (p.Asn175=)
|
rs2125500784
|
|
NM_001370658.1(BTD):c.534C>G (p.Val178=)
|
rs757159632
|
|
NM_001370658.1(BTD):c.555C>G (p.Thr185=)
|
|
|
NM_001370658.1(BTD):c.558T>A (p.Leu186=)
|
|
|
NM_001370658.1(BTD):c.564C>T (p.Asp188=)
|
|
|
NM_001370658.1(BTD):c.58C>T (p.Leu20=)
|
|
|
NM_001370658.1(BTD):c.597A>G (p.Ala199=)
|
|
|
NM_001370658.1(BTD):c.624T>C (p.Asp208=)
|
|
|
NM_001370658.1(BTD):c.630C>T (p.Ile210=)
|
|
|
NM_001370658.1(BTD):c.642C>T (p.Thr214=)
|
|
|
NM_001370658.1(BTD):c.645C>G (p.Pro215=)
|
|
|
NM_001370658.1(BTD):c.672A>G (p.Thr224=)
|
rs777224767
|
|
NM_001370658.1(BTD):c.687G>A (p.Leu229=)
|
rs2125501752
|
|
NM_001370658.1(BTD):c.699T>C (p.Pro233=)
|
|
|
NM_001370658.1(BTD):c.711C>T (p.Val237=)
|
|
|
NM_001370658.1(BTD):c.714C>T (p.Leu238=)
|
rs2125501926
|
|
NM_001370658.1(BTD):c.753C>T (p.Ala251=)
|
|
|
NM_001370658.1(BTD):c.762C>T (p.Asn254=)
|
rs2065642615
|
|
NM_001370658.1(BTD):c.798A>G (p.Lys266=)
|
|
|
NM_001370658.1(BTD):c.813C>A (p.Ala271=)
|
|
|
NM_001370658.1(BTD):c.81G>A (p.Glu27=)
|
rs530566306
|
|
NM_001370658.1(BTD):c.846C>T (p.His282=)
|
|
|
NM_001370658.1(BTD):c.84C>T (p.Ser28=)
|
|
|
NM_001370658.1(BTD):c.855T>G (p.Val285=)
|
rs2125502708
|
|
NM_001370658.1(BTD):c.858G>T (p.Leu286=)
|
|
|
NM_001370658.1(BTD):c.867A>G (p.Thr289=)
|
|
|
NM_001370658.1(BTD):c.870A>T (p.Gly290=)
|
|
|
NM_001370658.1(BTD):c.876C>A (p.Gly292=)
|
|
|
NM_001370658.1(BTD):c.894G>A (p.Glu298=)
|
rs2125502955
|
|
NM_001370658.1(BTD):c.897C>T (p.Ser299=)
|
|
|
NM_001370658.1(BTD):c.963A>T (p.Pro321=)
|
rs1313683563
|
|
NM_001370658.1(BTD):c.96T>C (p.His32=)
|
|
|
NM_001370658.1(BTD):c.975T>C (p.Ile325=)
|
|
|
NM_001370658.1(BTD):c.978T>G (p.Gly326=)
|
rs2125503475
|
|
NM_001370658.1(BTD):c.99C>T (p.His33=)
|
rs397514337
|
|
NM_001739.2(CA5A):c.143-15TC[5]
|
rs2144072738
|
|
NM_001739.2(CA5A):c.143-16G>A
|
|
|
NM_001739.2(CA5A):c.159G>A (p.Thr53=)
|
|
|
NM_001739.2(CA5A):c.165G>A (p.Pro55=)
|
|
|
NM_001739.2(CA5A):c.178G>C (p.Gly60Arg)
|
|
|
NM_001739.2(CA5A):c.18T>C (p.Thr6=)
|
rs748244375
|
|
NM_001739.2(CA5A):c.219C>T (p.Asp73=)
|
rs1213799028
|
|
NM_001739.2(CA5A):c.249C>G (p.Leu83=)
|
|
|
NM_001739.2(CA5A):c.255C>G (p.Val85=)
|
|
|
NM_001739.2(CA5A):c.279G>A (p.Leu93=)
|
|
|
NM_001739.2(CA5A):c.429C>T (p.His143=)
|
|
|
NM_001739.2(CA5A):c.447G>A (p.Ala149=)
|
|
|
NM_001739.2(CA5A):c.459+11G>A
|
|
|
NM_001739.2(CA5A):c.459+7A>T
|
|
|
NM_001739.2(CA5A):c.510T>A (p.Ala170=)
|
|
|
NM_001739.2(CA5A):c.513C>T (p.Val171=)
|
|
|
NM_001739.2(CA5A):c.555+16G>T
|
|
|
NM_001739.2(CA5A):c.555+19G>A
|
|
|
NM_001739.2(CA5A):c.558C>T (p.Leu186=)
|
|
|
NM_001739.2(CA5A):c.588G>C (p.Leu196=)
|
rs2055884463
|
|
NM_001739.2(CA5A):c.603G>A (p.Pro201=)
|
|
|
NM_001739.2(CA5A):c.618+10A>G
|
|
|
NM_001739.2(CA5A):c.618+16G>C
|
|
|
NM_001739.2(CA5A):c.699G>A (p.Ser233=)
|
|
|
NM_001739.2(CA5A):c.711G>A (p.Pro237=)
|
|
|
NM_001739.2(CA5A):c.720C>T (p.Thr240=)
|
|
|
NM_001739.2(CA5A):c.732C>G (p.Thr244=)
|
|
|
NM_001739.2(CA5A):c.774+13C>T
|
|
|
NM_001739.2(CA5A):c.775-10T>A
|
|
|
NM_001739.2(CA5A):c.819G>A (p.Glu273=)
|
rs2143888655
|
|
NM_001739.2(CA5A):c.81G>A (p.Ser27=)
|
|
|
NM_001739.2(CA5A):c.846C>T (p.Arg282=)
|
rs767556079
|
|
NM_001739.2(CA5A):c.852T>G (p.Leu284=)
|
|
|
NM_001739.2(CA5A):c.867C>T (p.Asn289=)
|
|
|
NM_001739.2(CA5A):c.885C>T (p.Ser295=)
|
|
|
NM_001931.5(DLAT):c.1146T>A (p.Gly382=)
|
|
|
NM_001931.5(DLAT):c.1197+11T>A
|
|
|
NM_001931.5(DLAT):c.1197+17T>A
|
rs2137783179
|
|
NM_001931.5(DLAT):c.1197+20T>C
|
rs2137783207
|
|
NM_001931.5(DLAT):c.1287T>G (p.Arg429=)
|
|
|
NM_001931.5(DLAT):c.1291-10T>C
|
|
|
NM_001931.5(DLAT):c.1291-8G>C
|
|
|
NM_001931.5(DLAT):c.1350C>T (p.Ile450=)
|
rs587724011
|
|
NM_001931.5(DLAT):c.1353T>C (p.Asp451=)
|
|
|
NM_001931.5(DLAT):c.1368A>G (p.Glu456=)
|
|
|
NM_001931.5(DLAT):c.1399-20A>C
|
|
|
NM_001931.5(DLAT):c.144G>A (p.Val48=)
|
rs367745211
|
|
NM_001931.5(DLAT):c.1515-7T>A
|
|
|
NM_001931.5(DLAT):c.1542G>C (p.Ala514=)
|
rs587652725
|
|
NM_001931.5(DLAT):c.1677+21_1677+24del
|
|
|
NM_001931.5(DLAT):c.1677+9T>C
|
|
|
NM_001931.5(DLAT):c.1695C>A (p.Ile565=)
|
|
|
NM_001931.5(DLAT):c.1851T>C (p.Ser617=)
|
|
|
NM_001931.5(DLAT):c.222G>A (p.Leu74=)
|
|
|
NM_001931.5(DLAT):c.279+18C>T
|
|
|
NM_001931.5(DLAT):c.280-15C>T
|
rs782149548
|
|
NM_001931.5(DLAT):c.306A>G (p.Thr102=)
|
rs2137678633
|
|
NM_001931.5(DLAT):c.372A>C (p.Leu124=)
|
rs1861999426
|
|
NM_001931.5(DLAT):c.381+7T>A
|
rs1165421307
|
|
NM_001931.5(DLAT):c.382-16C>T
|
|
|
NM_001931.5(DLAT):c.382-19C>G
|
|
|
NM_001931.5(DLAT):c.417C>T (p.Ser139=)
|
rs2137698040
|
|
NM_001931.5(DLAT):c.486C>G (p.Ile162Met)
|
|
|
NM_001931.5(DLAT):c.489C>T (p.Ile163=)
|
|
|
NM_001931.5(DLAT):c.507-12T>G
|
rs2137699407
|
|
NM_001931.5(DLAT):c.507-16T>A
|
|
|
NM_001931.5(DLAT):c.510T>A (p.Pro170=)
|
rs367605727
|
|
NM_001931.5(DLAT):c.54C>A (p.Leu18=)
|
rs1286345918
|
|
NM_001931.5(DLAT):c.660+19G>C
|
|
|
NM_001931.5(DLAT):c.735G>A (p.Lys245=)
|
|
|
NM_001931.5(DLAT):c.788-20_788-18del
|
|
|
NM_001931.5(DLAT):c.810T>G (p.Gly270=)
|
|
|
NM_001931.5(DLAT):c.891G>A (p.Glu297=)
|
|
|
NM_001931.5(DLAT):c.921G>A (p.Arg307=)
|
rs1555180610
|
|
NM_001931.5(DLAT):c.957A>G (p.Pro319=)
|
|
|
NM_001931.5(DLAT):c.975+13C>T
|
rs2137754185
|
|
NM_001931.5(DLAT):c.975+15_975+16delinsGT
|
rs2137754230
|
|
NM_001931.5(DLAT):c.976-13T>G
|
|
|
NM_001931.5(DLAT):c.976-15A>T
|
rs1555180789
|
|
NM_001931.5(DLAT):c.976-2del
|
rs781853215
|
|
NM_001931.5(DLAT):c.9C>T (p.Arg3=)
|
|
|
NM_002076.4(GNS):c.1017C>T (p.Asp339=)
|
|
|
NM_002076.4(GNS):c.1027C>T (p.Leu343=)
|
rs2136244455
|
|
NM_002076.4(GNS):c.1029G>A (p.Leu343=)
|
rs371914257
|
|
NM_002076.4(GNS):c.1032T>C (p.Tyr344=)
|
|
|
NM_002076.4(GNS):c.103C>T (p.Leu35=)
|
|
|
NM_002076.4(GNS):c.1056G>A (p.Leu352=)
|
rs754626354
|
|
NM_002076.4(GNS):c.1056G>C (p.Leu352=)
|
|
|
NM_002076.4(GNS):c.105G>A (p.Leu35=)
|
|
|
NM_002076.4(GNS):c.1068A>G (p.Gly356=)
|
|
|
NM_002076.4(GNS):c.108G>T (p.Gly36=)
|
rs1870387135
|
|
NM_002076.4(GNS):c.1098+17C>G
|
|
|
NM_002076.4(GNS):c.1098+19G>A
|
|
|
NM_002076.4(GNS):c.1098+7G>A
|
rs945038474
|
|
NM_002076.4(GNS):c.1099-10A>C
|
rs2136240601
|
|
NM_002076.4(GNS):c.1099-10A>G
|
rs2136240601
|
|
NM_002076.4(GNS):c.1099-13C>T
|
|
|
NM_002076.4(GNS):c.1099-17T>C
|
rs2136240606
|
|
NM_002076.4(GNS):c.1099-19T>C
|
|
|
NM_002076.4(GNS):c.1099-4A>G
|
|
|
NM_002076.4(GNS):c.1099-4A>T
|
rs1221669137
|
|
NM_002076.4(GNS):c.1099-6T>C
|
rs2136240597
|
|
NM_002076.4(GNS):c.1102C>T (p.Leu368=)
|
|
|
NM_002076.4(GNS):c.1104G>C (p.Leu368=)
|
rs766168524
|
|
NM_002076.4(GNS):c.1110C>G (p.Ala370=)
|
|
|
NM_002076.4(GNS):c.1110C>T (p.Ala370=)
|
|
|
NM_002076.4(GNS):c.111C>A (p.Val37=)
|
rs1156605468
|
|
NM_002076.4(GNS):c.1122G>A (p.Leu374=)
|
|
|
NM_002076.4(GNS):c.1131T>C (p.Thr377=)
|
|
|
NM_002076.4(GNS):c.1140C>T (p.Asp380=)
|
rs749616788
|
|
NM_002076.4(GNS):c.1143T>A (p.Ile381=)
|
|
|
NM_002076.4(GNS):c.1143T>C (p.Ile381=)
|
|
|
NM_002076.4(GNS):c.1179G>A (p.Gly393=)
|
rs2136240521
|
|
NM_002076.4(GNS):c.1194C>G (p.Pro398=)
|
|
|
NM_002076.4(GNS):c.1200+11C>A
|
rs775301317
|
|
NM_002076.4(GNS):c.1200+11C>T
|
|
|
NM_002076.4(GNS):c.1200+14C>T
|
|
|
NM_002076.4(GNS):c.1200+15C>G
|
|
|
NM_002076.4(GNS):c.1200+15C>T
|
|
|
NM_002076.4(GNS):c.1200+18A>G
|
|
|
NM_002076.4(GNS):c.1200+8T>C
|
|
|
NM_002076.4(GNS):c.1201-10T>C
|
|
|
NM_002076.4(GNS):c.1201-11C>T
|
|
|
NM_002076.4(GNS):c.1201-11_1201-10del
|
|
|
NM_002076.4(GNS):c.1201-12T>C
|
|
|
NM_002076.4(GNS):c.1201-13C>T
|
|
|
NM_002076.4(GNS):c.1201-17C>T
|
|
|
NM_002076.4(GNS):c.1201-4C>G
|
|
|
NM_002076.4(GNS):c.1201-4C>T
|
rs2136237942
|
|
NM_002076.4(GNS):c.1212T>C (p.Ser404=)
|
rs2136237933
|
|
NM_002076.4(GNS):c.1215C>T (p.Asn405=)
|
rs1425989538
|
|
NM_002076.4(GNS):c.1216T>C (p.Leu406=)
|
|
|
NM_002076.4(GNS):c.1221C>T (p.Thr407=)
|
rs773323544
|
|
NM_002076.4(GNS):c.1245A>G (p.Glu415=)
|
|
|
NM_002076.4(GNS):c.1269C>T (p.Val423=)
|
|
|
NM_002076.4(GNS):c.1281A>G (p.Thr427=)
|
|
|
NM_002076.4(GNS):c.1305A>G (p.Val435=)
|
rs1259126055
|
|
NM_002076.4(GNS):c.1308+14T>G
|
|
|
NM_002076.4(GNS):c.1308+15del
|
|
|
NM_002076.4(GNS):c.1308+7A>C
|
|
|
NM_002076.4(GNS):c.1308+8A>T
|
|
|
NM_002076.4(GNS):c.1308+9T>C
|
|
|
NM_002076.4(GNS):c.1309-15G>T
|
|
|
NM_002076.4(GNS):c.1309-15del
|
|
|
NM_002076.4(GNS):c.1309-16T>C
|
|
|
NM_002076.4(GNS):c.1309-20C>T
|
|
|
NM_002076.4(GNS):c.1309-4A>T
|
|
|
NM_002076.4(GNS):c.1309-6C>T
|
rs1592491918
|
|
NM_002076.4(GNS):c.1309-9T>C
|
rs1869033080
|
|
NM_002076.4(GNS):c.1320A>G (p.Pro440=)
|
|
|
NM_002076.4(GNS):c.1326T>C (p.Cys442=)
|
|
|
NM_002076.4(GNS):c.132C>G (p.Thr44=)
|
rs1592514574
|
|
NM_002076.4(GNS):c.133C>A (p.Arg45=)
|
rs1870385540
|
|
NM_002076.4(GNS):c.1341T>G (p.Ala447=)
|
|
|
NM_002076.4(GNS):c.1353C>A (p.Thr451=)
|
rs749445364
|
|
NM_002076.4(GNS):c.1371A>C (p.Thr457=)
|
|
|
NM_002076.4(GNS):c.1377A>G (p.Ser459=)
|
|
|
NM_002076.4(GNS):c.1380A>G (p.Ala460=)
|
|
|
NM_002076.4(GNS):c.1398T>C (p.Tyr466=)
|
rs2136237264
|
|
NM_002076.4(GNS):c.1401C>T (p.Cys467=)
|
|
|
NM_002076.4(GNS):c.1419+14C>T
|
|
|
NM_002076.4(GNS):c.1419+17C>T
|
|
|
NM_002076.4(GNS):c.1419+20G>A
|
|
|
NM_002076.4(GNS):c.1419+7G>A
|
|
|
NM_002076.4(GNS):c.1419+7G>C
|
|
|
NM_002076.4(GNS):c.1420-13T>C
|
|
|
NM_002076.4(GNS):c.1420-16C>G
|
|
|
NM_002076.4(GNS):c.1420-16C>T
|
|
|
NM_002076.4(GNS):c.1420-19A>C
|
|
|
NM_002076.4(GNS):c.1420-19A>T
|
rs2136236660
|
|
NM_002076.4(GNS):c.1420-6C>T
|
rs2136236651
|
|
NM_002076.4(GNS):c.1441C>T (p.Leu481=)
|
rs2136236637
|
|
NM_002076.4(GNS):c.1446T>A (p.Thr482=)
|
|
|
NM_002076.4(GNS):c.144C>T (p.Asn48=)
|
rs2136259327
|
|
NM_002076.4(GNS):c.1455A>G (p.Pro485=)
|
|
|
NM_002076.4(GNS):c.1458C>T (p.Asp486=)
|
rs2136236622
|
|
NM_002076.4(GNS):c.1473T>A (p.Ile491=)
|
rs2136236609
|
|
NM_002076.4(GNS):c.147G>A (p.Val49=)
|
|
|
NM_002076.4(GNS):c.1488C>T (p.Asp496=)
|
|
|
NM_002076.4(GNS):c.1491A>G (p.Pro497=)
|
rs2136236596
|
|
NM_002076.4(GNS):c.1503A>C (p.Gly501=)
|
|
|
NM_002076.4(GNS):c.1518G>A (p.Arg506=)
|
rs1000381159
|
|
NM_002076.4(GNS):c.1518G>T (p.Arg506=)
|
rs1000381159
|
|
NM_002076.4(GNS):c.1539T>C (p.Cys513=)
|
|
|
NM_002076.4(GNS):c.153G>C (p.Leu51=)
|
|
|
NM_002076.4(GNS):c.1560T>G (p.Thr520=)
|
|
|
NM_002076.4(GNS):c.156C>G (p.Leu52=)
|
rs951936514
|
|
NM_002076.4(GNS):c.1575C>T (p.Asp525=)
|
rs2136236573
|
|
NM_002076.4(GNS):c.1578C>A (p.Pro526=)
|
|
|
NM_002076.4(GNS):c.1578C>G (p.Pro526=)
|
|
|
NM_002076.4(GNS):c.1580+10C>T
|
rs2136236567
|
|
NM_002076.4(GNS):c.1580+12T>G
|
|
|
NM_002076.4(GNS):c.1580+13T>C
|
|
|
NM_002076.4(GNS):c.1580+17T>C
|
rs2136236562
|
|
NM_002076.4(GNS):c.1580+9C>G
|
rs1429111979
|
|
NM_002076.4(GNS):c.1581-14T>C
|
|
|
NM_002076.4(GNS):c.1581-15G>A
|
|
|
NM_002076.4(GNS):c.1581-20A>G
|
|
|
NM_002076.4(GNS):c.1581-5C>G
|
|
|
NM_002076.4(GNS):c.1584C>T (p.Tyr528=)
|
|
|
NM_002076.4(GNS):c.1596C>T (p.Pro532=)
|
|
|
NM_002076.4(GNS):c.159C>T (p.Leu53=)
|
rs2136259284
|
|
NM_002076.4(GNS):c.15T>C (p.Pro5=)
|
|
|
NM_002076.4(GNS):c.1617C>T (p.Arg539=)
|
rs1592489447
|
|
NM_002076.4(GNS):c.1623T>C (p.Ser541=)
|
rs2136235293
|
|
NM_002076.4(GNS):c.1626C>T (p.Val542=)
|
|
|
NM_002076.4(GNS):c.1629G>A (p.Arg543=)
|
rs778448292
|
|
NM_002076.4(GNS):c.162G>C (p.Thr54=)
|
|
|
NM_002076.4(GNS):c.1656G>A (p.Leu552=)
|
rs1382653749
|
|
NM_002076.4(GNS):c.165C>T (p.Asp55=)
|
rs1345914923
|
|
NM_002076.4(GNS):c.174C>T (p.Asp58=)
|
|
|
NM_002076.4(GNS):c.183C>G (p.Leu61=)
|
|
|
NM_002076.4(GNS):c.18A>G (p.Leu6=)
|
rs2136259594
|
|
NM_002076.4(GNS):c.192+10C>T
|
|
|
NM_002076.4(GNS):c.192+10_192+11del
|
rs1592514466
|
|
NM_002076.4(GNS):c.192+12G>T
|
rs1870381062
|
|
NM_002076.4(GNS):c.192+15T>A
|
|
|
NM_002076.4(GNS):c.192+16C>T
|
|
|
NM_002076.4(GNS):c.192+19C>T
|
rs1870380285
|
|
NM_002076.4(GNS):c.192+7_192+8del
|
|
|
NM_002076.4(GNS):c.192+8T>A
|
|
|
NM_002076.4(GNS):c.192+8T>C
|
rs2136259214
|
|
NM_002076.4(GNS):c.193-10_193-7del
|
|
|
NM_002076.4(GNS):c.193-13C>T
|
|
|
NM_002076.4(GNS):c.193-15T>G
|
|
|
NM_002076.4(GNS):c.193-7T>C
|
|
|
NM_002076.4(GNS):c.198G>T (p.Pro66=)
|
rs1147096
|
|
NM_002076.4(GNS):c.201A>G (p.Leu67=)
|
|
|
NM_002076.4(GNS):c.219C>A (p.Leu73=)
|
rs376829383
|
|
NM_002076.4(GNS):c.222C>A (p.Ile74=)
|
|
|
NM_002076.4(GNS):c.222C>T (p.Ile74=)
|
rs1375026446
|
|
NM_002076.4(GNS):c.246C>T (p.Ser82=)
|
rs2136253254
|
|
NM_002076.4(GNS):c.24A>G (p.Pro8=)
|
rs2136259580
|
|
NM_002076.4(GNS):c.252+20C>G
|
|
|
NM_002076.4(GNS):c.252+20C>T
|
|
|
NM_002076.4(GNS):c.253-11T>C
|
rs557641309
|
|
NM_002076.4(GNS):c.253-11T>G
|
|
|
NM_002076.4(GNS):c.253-15del
|
|
|
NM_002076.4(GNS):c.253-17C>T
|
|
|
NM_002076.4(GNS):c.253-5T>C
|
|
|
NM_002076.4(GNS):c.253-6T>C
|
|
|
NM_002076.4(GNS):c.255T>C (p.Tyr85=)
|
rs765701552
|
|
NM_002076.4(GNS):c.270C>T (p.Leu90=)
|
|
|
NM_002076.4(GNS):c.276C>T (p.Cys92=)
|
|
|
NM_002076.4(GNS):c.279C>T (p.Pro93=)
|
rs1592506570
|
|
NM_002076.4(GNS):c.294C>T (p.Ile98=)
|
|
|
NM_002076.4(GNS):c.295C>T (p.Leu99=)
|
|
|
NM_002076.4(GNS):c.297G>A (p.Leu99=)
|
rs1565627083
|
|
NM_002076.4(GNS):c.300A>G (p.Thr100=)
|
rs370542872
|
|
NM_002076.4(GNS):c.30G>T (p.Arg10=)
|
|
|
NM_002076.4(GNS):c.321T>C (p.His107=)
|
|
|
NM_002076.4(GNS):c.327T>A (p.Val109=)
|
|
|
NM_002076.4(GNS):c.339T>A (p.Thr113=)
|
rs1869942986
|
|
NM_002076.4(GNS):c.345G>A (p.Glu115=)
|
|
|
NM_002076.4(GNS):c.348G>A (p.Gly116=)
|
|
|
NM_002076.4(GNS):c.360T>C (p.Ser120=)
|
rs2136249902
|
|
NM_002076.4(GNS):c.372G>A (p.Gln124=)
|
|
|
NM_002076.4(GNS):c.384A>G (p.Glu128=)
|
|
|
NM_002076.4(GNS):c.393T>A (p.Thr131=)
|
|
|
NM_002076.4(GNS):c.393T>C (p.Thr131=)
|
rs1869940104
|
|
NM_002076.4(GNS):c.393T>G (p.Thr131=)
|
|
|
NM_002076.4(GNS):c.39G>A (p.Arg13=)
|
rs956710996
|
|
NM_002076.4(GNS):c.447A>G (p.Lys149=)
|
|
|
NM_002076.4(GNS):c.459+10A>G
|
rs762826979
|
|
NM_002076.4(GNS):c.459+11T>C
|
|
|
NM_002076.4(GNS):c.459+11_459+14del
|
|
|
NM_002076.4(GNS):c.459+12G>C
|
|
|
NM_002076.4(GNS):c.459+14T>A
|
|
|
NM_002076.4(GNS):c.459+16T>G
|
|
|
NM_002076.4(GNS):c.459+18T>C
|
|
|
NM_002076.4(GNS):c.459+8G>T
|
rs199789530
|
|
NM_002076.4(GNS):c.460-10T>C
|
|
|
NM_002076.4(GNS):c.460-17C>T
|
|
|
NM_002076.4(GNS):c.460-20C>G
|
|
|
NM_002076.4(GNS):c.460-20C>T
|
|
|
NM_002076.4(GNS):c.460-4T>G
|
rs2136248910
|
|
NM_002076.4(GNS):c.460-5T>G
|
|
|
NM_002076.4(GNS):c.468C>A (p.Ala156=)
|
rs147780685
|
|
NM_002076.4(GNS):c.471A>G (p.Pro157=)
|
rs2136248890
|
|
NM_002076.4(GNS):c.477A>G (p.Ala159=)
|
|
|
NM_002076.4(GNS):c.486A>G (p.Leu162=)
|
rs766459418
|
|
NM_002076.4(GNS):c.48C>G (p.Pro16=)
|
rs2136259544
|
|
NM_002076.4(GNS):c.498T>C (p.Pro166=)
|
rs2136248867
|
|
NM_002076.4(GNS):c.504T>C (p.Gly168=)
|
|
|
NM_002076.4(GNS):c.510T>C (p.Ser170=)
|
|
|
NM_002076.4(GNS):c.513C>T (p.Tyr171=)
|
|
|
NM_002076.4(GNS):c.522C>T (p.Ala174=)
|
rs2136248842
|
|
NM_002076.4(GNS):c.525+12T>C
|
|
|
NM_002076.4(GNS):c.525+16A>T
|
|
|
NM_002076.4(GNS):c.525+19C>T
|
|
|
NM_002076.4(GNS):c.525+20T>C
|
rs1428097709
|
|
NM_002076.4(GNS):c.526-11C>T
|
rs2136248437
|
|
NM_002076.4(GNS):c.526-16T>C
|
|
|
NM_002076.4(GNS):c.537T>G (p.Ser179=)
|
|
|
NM_002076.4(GNS):c.54C>T (p.His18=)
|
rs2136259524
|
|
NM_002076.4(GNS):c.55C>T (p.Leu19=)
|
rs1307936431
|
|
NM_002076.4(GNS):c.561T>A (p.Ser187=)
|
|
|
NM_002076.4(GNS):c.561T>C (p.Ser187=)
|
|
|
NM_002076.4(GNS):c.585T>C (p.His195=)
|
rs1322850279
|
|
NM_002076.4(GNS):c.600T>C (p.Ser200=)
|
rs2136248388
|
|
NM_002076.4(GNS):c.60C>T (p.Pro20=)
|
|
|
NM_002076.4(GNS):c.624+11G>A
|
|
|
NM_002076.4(GNS):c.624+13A>G
|
|
|
NM_002076.4(GNS):c.624+14G>C
|
|
|
NM_002076.4(GNS):c.624+14G>T
|
|
|
NM_002076.4(GNS):c.624+16T>G
|
|
|
NM_002076.4(GNS):c.624+20T>A
|
|
|
NM_002076.4(GNS):c.624+7T>G
|
|
|
NM_002076.4(GNS):c.624+9C>T
|
|
|
NM_002076.4(GNS):c.625-11T>G
|
|
|
NM_002076.4(GNS):c.625-13T>A
|
rs1195674881
|
|
NM_002076.4(GNS):c.625-16T>A
|
|
|
NM_002076.4(GNS):c.625-18A>G
|
|
|
NM_002076.4(GNS):c.625-5G>C
|
rs2136247669
|
|
NM_002076.4(GNS):c.627T>A (p.Ala209=)
|
rs772521115
|
|
NM_002076.4(GNS):c.633C>A (p.Val211=)
|
rs367799685
|
|
NM_002076.4(GNS):c.633C>G (p.Val211=)
|
|
|
NM_002076.4(GNS):c.636C>G (p.Ser212=)
|
|
|
NM_002076.4(GNS):c.63C>T (p.Ser21=)
|
|
|
NM_002076.4(GNS):c.645T>C (p.Phe215=)
|
rs1193339932
|
|
NM_002076.4(GNS):c.663C>T (p.Asn221=)
|
rs2136247641
|
|
NM_002076.4(GNS):c.666T>C (p.Phe222=)
|
|
|
NM_002076.4(GNS):c.669G>A (p.Glu223=)
|
|
|
NM_002076.4(GNS):c.66C>T (p.Cys22=)
|
|
|
NM_002076.4(GNS):c.672C>T (p.Pro224=)
|
|
|
NM_002076.4(GNS):c.675C>T (p.Phe225=)
|
|
|
NM_002076.4(GNS):c.705T>C (p.His235=)
|
rs2136247609
|
|
NM_002076.4(GNS):c.708G>T (p.Ser236=)
|
|
|
NM_002076.4(GNS):c.717A>G (p.Thr239=)
|
rs1263645910
|
|
NM_002076.4(GNS):c.717A>T (p.Thr239=)
|
|
|
NM_002076.4(GNS):c.720T>C (p.Ala240=)
|
rs2136247587
|
|
NM_002076.4(GNS):c.720T>G (p.Ala240=)
|
rs2136247587
|
|
NM_002076.4(GNS):c.723A>C (p.Ala241=)
|
rs770999308
|
|
NM_002076.4(GNS):c.723A>G (p.Ala241=)
|
rs770999308
|
|
NM_002076.4(GNS):c.738G>A (p.Lys246=)
|
|
|
NM_002076.4(GNS):c.744C>T (p.Phe248=)
|
|
|
NM_002076.4(GNS):c.750T>C (p.Asn250=)
|
rs752828899
|
|
NM_002076.4(GNS):c.762A>G (p.Pro254=)
|
rs2136247555
|
|
NM_002076.4(GNS):c.763A>C (p.Arg255=)
|
rs754806632
|
|
NM_002076.4(GNS):c.76C>T (p.Leu26=)
|
|
|
NM_002076.4(GNS):c.783C>T (p.Ile261=)
|
rs2136247536
|
|
NM_002076.4(GNS):c.789A>G (p.Gly263=)
|
rs2136247530
|
|
NM_002076.4(GNS):c.78G>A (p.Leu26=)
|
|
|
NM_002076.4(GNS):c.792+12C>G
|
|
|
NM_002076.4(GNS):c.792+13A>G
|
|
|
NM_002076.4(GNS):c.792+9C>T
|
rs2136247523
|
|
NM_002076.4(GNS):c.793-11C>T
|
|
|
NM_002076.4(GNS):c.798G>A (p.Lys266=)
|
|
|
NM_002076.4(GNS):c.801C>T (p.His267=)
|
rs758411953
|
|
NM_002076.4(GNS):c.825T>C (p.Thr275=)
|
|
|
NM_002076.4(GNS):c.828A>G (p.Pro276=)
|
rs756712675
|
|
NM_002076.4(GNS):c.82C>T (p.Leu28=)
|
|
|
NM_002076.4(GNS):c.837T>C (p.Asn279=)
|
|
|
NM_002076.4(GNS):c.849G>A (p.Gln283=)
|
|
|
NM_002076.4(GNS):c.855A>G (p.Leu285=)
|
rs2136246141
|
|
NM_002076.4(GNS):c.858T>C (p.Asp286=)
|
rs2136246138
|
|
NM_002076.4(GNS):c.85C>T (p.Leu29=)
|
rs1245676297
|
|
NM_002076.4(GNS):c.861T>C (p.Asn287=)
|
|
|
NM_002076.4(GNS):c.873A>G (p.Lys291=)
|
|
|
NM_002076.4(GNS):c.875+11C>G
|
|
|
NM_002076.4(GNS):c.875+14C>A
|
|
|
NM_002076.4(GNS):c.875+17C>G
|
|
|
NM_002076.4(GNS):c.875+18A>G
|
rs748171659
|
|
NM_002076.4(GNS):c.875+20A>G
|
|
|
NM_002076.4(GNS):c.875+7G>A
|
rs968486495
|
|
NM_002076.4(GNS):c.875+7GCT[4]
|
|
|
NM_002076.4(GNS):c.875+9dup
|
|
|
NM_002076.4(GNS):c.876-17C>T
|
rs2136245561
|
|
NM_002076.4(GNS):c.876-19A>G
|
|
|
NM_002076.4(GNS):c.876-5del
|
rs2136245551
|
|
NM_002076.4(GNS):c.876-8A>C
|
|
|
NM_002076.4(GNS):c.876-8A>G
|
rs1869660466
|
|
NM_002076.4(GNS):c.87G>T (p.Leu29=)
|
rs2136259446
|
|
NM_002076.4(GNS):c.882A>G (p.Gln294=)
|
rs2136245535
|
|
NM_002076.4(GNS):c.903C>T (p.Asp301=)
|
rs761143788
|
|
NM_002076.4(GNS):c.906T>C (p.Leu302=)
|
rs2136245524
|
|
NM_002076.4(GNS):c.915A>G (p.Lys305=)
|
rs766823105
|
|
NM_002076.4(GNS):c.918G>A (p.Leu306=)
|
|
|
NM_002076.4(GNS):c.921C>G (p.Val307=)
|
|
|
NM_002076.4(GNS):c.921C>T (p.Val307=)
|
|
|
NM_002076.4(GNS):c.927G>A (p.Arg309=)
|
|
|
NM_002076.4(GNS):c.939T>G (p.Thr313=)
|
rs1869657867
|
|
NM_002076.4(GNS):c.951C>T (p.Asn317=)
|
|
|
NM_002076.4(GNS):c.960C>T (p.Tyr320=)
|
rs775564692
|
|
NM_002076.4(GNS):c.96C>A (p.Gly32=)
|
|
|
NM_002076.4(GNS):c.96C>T (p.Gly32=)
|
|
|
NM_002076.4(GNS):c.975A>G (p.Ser325=)
|
|
|
NM_002076.4(GNS):c.978C>T (p.Asp326=)
|
rs2136245486
|
|
NM_002076.4(GNS):c.994+15T>G
|
rs1592501849
|
|
NM_002076.4(GNS):c.994+7G>A
|
|
|
NM_002076.4(GNS):c.995-13G>A
|
|
|
NM_002076.4(GNS):c.995-19T>G
|
|
|
NM_002076.4(GNS):c.995-4T>G
|
|
|
NM_002103.5(GYS1):c.1042C>A (p.Arg348=)
|
|
|
NM_002103.5(GYS1):c.1062+10G>A
|
rs1025097657
|
|
NM_002103.5(GYS1):c.1062+11G>A
|
|
|
NM_002103.5(GYS1):c.1062+15A>G
|
|
|
NM_002103.5(GYS1):c.1063-17C>T
|
|
|
NM_002103.5(GYS1):c.1063-18T>G
|
rs2122505836
|
|
NM_002103.5(GYS1):c.1063-19C>G
|
|
|
NM_002103.5(GYS1):c.1074C>T (p.Ser358=)
|
|
|
NM_002103.5(GYS1):c.1137C>T (p.Thr379=)
|
rs2122505335
|
|
NM_002103.5(GYS1):c.1164G>A (p.Gln388=)
|
|
|
NM_002103.5(GYS1):c.1169+19G>A
|
|
|
NM_002103.5(GYS1):c.1169+9C>T
|
rs766614540
|
|
NM_002103.5(GYS1):c.1170-20T>C
|
|
|
NM_002103.5(GYS1):c.1170-6C>G
|
|
|
NM_002103.5(GYS1):c.1170-6C>T
|
rs903123136
|
|
NM_002103.5(GYS1):c.118+10C>T
|
rs2122549543
|
|
NM_002103.5(GYS1):c.118+18C>A
|
rs776546579
|
|
NM_002103.5(GYS1):c.1185G>A (p.Thr395=)
|
|
|
NM_002103.5(GYS1):c.1185G>T (p.Thr395=)
|
rs777198699
|
|
NM_002103.5(GYS1):c.119-14G>A
|
|
|
NM_002103.5(GYS1):c.119-15C>T
|
|
|
NM_002103.5(GYS1):c.1194A>G (p.Glu398=)
|
|
|
NM_002103.5(GYS1):c.1200C>T (p.Phe400=)
|
|
|
NM_002103.5(GYS1):c.1218A>G (p.Glu406=)
|
rs2122491545
|
|
NM_002103.5(GYS1):c.1229+15C>G
|
|
|
NM_002103.5(GYS1):c.1229+16T>G
|
|
|
NM_002103.5(GYS1):c.1229+19G>C
|
rs1286503875
|
|
NM_002103.5(GYS1):c.1269A>G (p.Glu423=)
|
|
|
NM_002103.5(GYS1):c.1288A>C (p.Arg430=)
|
rs1429444927
|
|
NM_002103.5(GYS1):c.1299T>C (p.Phe433=)
|
|
|
NM_002103.5(GYS1):c.1308+20G>A
|
|
|
NM_002103.5(GYS1):c.1309-17T>C
|
rs2122477632
|
|
NM_002103.5(GYS1):c.1309-20C>T
|
|
|
NM_002103.5(GYS1):c.1309-8T>C
|
rs1555798424
|
|
NM_002103.5(GYS1):c.1309-9del
|
|
|
NM_002103.5(GYS1):c.1314G>A (p.Gln438=)
|
rs2122477515
|
|
NM_002103.5(GYS1):c.1362C>T (p.Asp454=)
|
|
|
NM_002103.5(GYS1):c.1423-13T>A
|
|
|
NM_002103.5(GYS1):c.1423-15_1423-13del
|
|
|
NM_002103.5(GYS1):c.1423-20T>A
|
|
|
NM_002103.5(GYS1):c.1423-4C>A
|
rs1197579441
|
|
NM_002103.5(GYS1):c.1482G>A (p.Glu494=)
|
|
|
NM_002103.5(GYS1):c.150G>A (p.Lys50=)
|
rs1600154925
|
|
NM_002103.5(GYS1):c.1518C>T (p.Pro506=)
|
rs920576632
|
|
NM_002103.5(GYS1):c.1549+16dup
|
|
|
NM_002103.5(GYS1):c.1549+18G>C
|
|
|
NM_002103.5(GYS1):c.1549+19G>C
|
rs2038608930
|
|
NM_002103.5(GYS1):c.1550-10C>T
|
rs2038557112
|
|
NM_002103.5(GYS1):c.1550-17C>G
|
|
|
NM_002103.5(GYS1):c.1602C>T (p.Phe534=)
|
|
|
NM_002103.5(GYS1):c.1645+12G>A
|
|
|
NM_002103.5(GYS1):c.1645+18T>C
|
|
|
NM_002103.5(GYS1):c.1646-4A>G
|
|
|
NM_002103.5(GYS1):c.1646-6C>T
|
|
|
NM_002103.5(GYS1):c.1646-9C>G
|
|
|
NM_002103.5(GYS1):c.1662C>T (p.Asp554=)
|
|
|
NM_002103.5(GYS1):c.168C>T (p.Asp56=)
|
|
|
NM_002103.5(GYS1):c.1716C>T (p.Tyr572=)
|
|
|
NM_002103.5(GYS1):c.1809+13C>A
|
|
|
NM_002103.5(GYS1):c.1809+9C>G
|
rs1327230198
|
|
NM_002103.5(GYS1):c.1810-11C>T
|
|
|
NM_002103.5(GYS1):c.1810-15C>T
|
|
|
NM_002103.5(GYS1):c.1810-19C>T
|
rs367581750
|
|
NM_002103.5(GYS1):c.1810-20C>G
|
|
|
NM_002103.5(GYS1):c.1810-20C>T
|
|
|
NM_002103.5(GYS1):c.1810-7C>A
|
rs778919596
|
|
NM_002103.5(GYS1):c.1810-7C>T
|
|
|
NM_002103.5(GYS1):c.1815T>C (p.Tyr605=)
|
|
|
NM_002103.5(GYS1):c.1836G>A (p.Ala612=)
|
|
|
NM_002103.5(GYS1):c.1839G>C (p.Leu613=)
|
|
|
NM_002103.5(GYS1):c.1891-19C>T
|
|
|
NM_002103.5(GYS1):c.1899G>T (p.Gly633=)
|
rs1555797705
|
|
NM_002103.5(GYS1):c.1908C>T (p.Tyr636=)
|
rs2122453422
|
|
NM_002103.5(GYS1):c.192G>A (p.Leu64=)
|
|
|
NM_002103.5(GYS1):c.1932G>A (p.Pro644=)
|
rs1600127983
|
|
NM_002103.5(GYS1):c.1962G>A (p.Pro654=)
|
rs1274965475
|
|
NM_002103.5(GYS1):c.198G>A (p.Gly66=)
|
|
|
NM_002103.5(GYS1):c.2001G>T (p.Pro667=)
|
rs1164592345
|
|
NM_002103.5(GYS1):c.2007G>A (p.Glu669=)
|
|
|
NM_002103.5(GYS1):c.2016C>A (p.Gly672=)
|
rs1213596695
|
|
NM_002103.5(GYS1):c.2043C>A (p.Ala681=)
|
|
|
NM_002103.5(GYS1):c.2070A>G (p.Ala690=)
|
rs1307896845
|
|
NM_002103.5(GYS1):c.2178C>T (p.Leu726=)
|
rs2122451246
|
|
NM_002103.5(GYS1):c.235C>T (p.Leu79=)
|
rs886054573
|
|
NM_002103.5(GYS1):c.243G>A (p.Glu81=)
|
|
|
NM_002103.5(GYS1):c.297C>T (p.Cys99=)
|
|
|
NM_002103.5(GYS1):c.300+11G>A
|
rs201417230
|
|
NM_002103.5(GYS1):c.300+11G>T
|
rs201417230
|
|
NM_002103.5(GYS1):c.300+11del
|
|
|
NM_002103.5(GYS1):c.300+7C>G
|
|
|
NM_002103.5(GYS1):c.301-10C>A
|
|
|
NM_002103.5(GYS1):c.301-10C>T
|
rs2122525723
|
|
NM_002103.5(GYS1):c.301-16C>T
|
|
|
NM_002103.5(GYS1):c.348C>T (p.Leu116=)
|
rs1294127713
|
|
NM_002103.5(GYS1):c.375C>A (p.Ala125=)
|
rs2038857803
|
|
NM_002103.5(GYS1):c.417C>T (p.Ile139=)
|
rs758550328
|
|
NM_002103.5(GYS1):c.432C>T (p.Tyr144=)
|
|
|
NM_002103.5(GYS1):c.435C>T (p.Asp145=)
|
|
|
NM_002103.5(GYS1):c.447C>T (p.Asn149=)
|
|
|
NM_002103.5(GYS1):c.483C>T (p.Phe161=)
|
|
|
NM_002103.5(GYS1):c.489T>G (p.Gly163=)
|
|
|
NM_002103.5(GYS1):c.492+10G>A
|
rs772808320
|
|
NM_002103.5(GYS1):c.492+16C>T
|
|
|
NM_002103.5(GYS1):c.492+17A>G
|
|
|
NM_002103.5(GYS1):c.498G>A (p.Leu166=)
|
|
|
NM_002103.5(GYS1):c.603C>T (p.Ile201=)
|
rs2122520643
|
|
NM_002103.5(GYS1):c.645C>G (p.Ala215=)
|
rs371721154
|
|
NM_002103.5(GYS1):c.645C>T (p.Ala215=)
|
rs371721154
|
|
NM_002103.5(GYS1):c.678+14G>A
|
|
|
NM_002103.5(GYS1):c.679-18C>T
|
|
|
NM_002103.5(GYS1):c.679-19G>A
|
|
|
NM_002103.5(GYS1):c.679-4C>G
|
|
|
NM_002103.5(GYS1):c.681C>T (p.Phe227=)
|
rs2122519311
|
|
NM_002103.5(GYS1):c.6T>C (p.Pro2=)
|
rs2038966717
|
|
NM_002103.5(GYS1):c.714C>A (p.Ile238=)
|
|
|
NM_002103.5(GYS1):c.717C>T (p.Tyr239=)
|
rs2038830065
|
|
NM_002103.5(GYS1):c.786C>T (p.Thr262=)
|
|
|
NM_002103.5(GYS1):c.801G>A (p.Gln267=)
|
rs2122518762
|
|
NM_002103.5(GYS1):c.816G>A (p.Arg272=)
|
|
|
NM_002103.5(GYS1):c.823+11G>A
|
|
|
NM_002103.5(GYS1):c.823+11_823+12del
|
rs750236338
|
|
NM_002103.5(GYS1):c.823+13C>T
|
|
|
NM_002103.5(GYS1):c.823+20C>T
|
rs1343844948
|
|
NM_002103.5(GYS1):c.867C>A (p.Ala289=)
|
|
|
NM_002103.5(GYS1):c.927G>C (p.Arg309=)
|
rs2122509669
|
|
NM_002103.5(GYS1):c.941+20A>G
|
|
|
NM_002103.5(GYS1):c.942-13G>C
|
|
|
NM_002103.5(GYS1):c.942-14del
|
|
|
NM_002103.5(GYS1):c.942-20G>T
|
rs368204451
|
|
NM_002103.5(GYS1):c.981T>C (p.Phe327=)
|
|
|
NM_002103.5(GYS1):c.996T>C (p.Tyr332=)
|
|
|
NM_002294.3(LAMP2):c.1002G>A (p.Glu334=)
|
|
|
NM_002294.3(LAMP2):c.1093+10A>G
|
|
|
NM_002294.3(LAMP2):c.1093+11A>G
|
|
|
NM_002294.3(LAMP2):c.1093+14A>T
|
rs2147278803
|
|
NM_002294.3(LAMP2):c.1093+2469C>A
|
rs770877964
|
|
NM_002294.3(LAMP2):c.1093+2524T>C
|
rs1602530731
|
|
NM_002294.3(LAMP2):c.1093+7A>G
|
|
|
NM_002294.3(LAMP2):c.1093+9C>G
|
rs371259269
|
|
NM_002294.3(LAMP2):c.1094-19G>A
|
|
|
NM_002294.3(LAMP2):c.1094-19G>T
|
rs1353282320
|
|
NM_002294.3(LAMP2):c.1094-9C>T
|
rs2147273257
|
|
NM_002294.3(LAMP2):c.1114GAC[1] (p.Asp373del)
|
rs730880494
|
|
NM_002294.3(LAMP2):c.1134C>T (p.Pro378=)
|
rs2147273218
|
|
NM_002294.3(LAMP2):c.1140G>T (p.Ala380=)
|
rs1029569080
|
|
NM_002294.3(LAMP2):c.1143G>A (p.Val381=)
|
rs2147273199
|
|
NM_002294.3(LAMP2):c.1152C>T (p.Ala384=)
|
rs2147273194
|
|
NM_002294.3(LAMP2):c.120T>C (p.Thr40=)
|
|
|
NM_002294.3(LAMP2):c.1224G>A (p.Glu408=)
|
|
|
NM_002294.3(LAMP2):c.141G>A (p.Gln47=)
|
|
|
NM_002294.3(LAMP2):c.150C>T (p.Phe50=)
|
rs1057521701
|
|
NM_002294.3(LAMP2):c.156_157delinsTT (p.Arg53Cys)
|
rs1556114013
|
|
NM_002294.3(LAMP2):c.183+17A>G
|
rs1052902953
|
|
NM_002294.3(LAMP2):c.183+8T>C
|
rs997912625
|
|
NM_002294.3(LAMP2):c.184-11A>G
|
rs2147286997
|
|
NM_002294.3(LAMP2):c.184-9T>G
|
rs774218764
|
|
NM_002294.3(LAMP2):c.204C>T (p.Asp68=)
|
rs376215728
|
|
NM_002294.3(LAMP2):c.207T>C (p.His69=)
|
|
|
NM_002294.3(LAMP2):c.212C>G (p.Thr71Ser)
|
|
|
NM_002294.3(LAMP2):c.219A>G (p.Thr73=)
|
rs1921054102
|
|
NM_002294.3(LAMP2):c.261A>G (p.Lys87=)
|
|
|
NM_002294.3(LAMP2):c.300G>C (p.Ala100=)
|
rs765548221
|
|
NM_002294.3(LAMP2):c.300G>T (p.Ala100=)
|
rs765548221
|
|
NM_002294.3(LAMP2):c.30G>C (p.Pro10=)
|
|
|
NM_002294.3(LAMP2):c.327T>C (p.Tyr109=)
|
rs1397410765
|
|
NM_002294.3(LAMP2):c.333T>C (p.Ile111=)
|
rs397516742
|
|
NM_002294.3(LAMP2):c.354C>T (p.Tyr118=)
|
rs1602539967
|
|
NM_002294.3(LAMP2):c.370ACA[1] (p.Thr125del)
|
rs760602347
|
|
NM_002294.3(LAMP2):c.372A>G (p.Thr124=)
|
|
|
NM_002294.3(LAMP2):c.387T>C (p.Ala129=)
|
|
|
NM_002294.3(LAMP2):c.393T>C (p.Asp131=)
|
|
|
NM_002294.3(LAMP2):c.397+16del
|
|
|
NM_002294.3(LAMP2):c.397+19T>C
|
|
|
NM_002294.3(LAMP2):c.398-14A>G
|
|
|
NM_002294.3(LAMP2):c.426C>T (p.Ala142=)
|
rs2147283103
|
|
NM_002294.3(LAMP2):c.429C>T (p.Ile143=)
|
rs1602536478
|
|
NM_002294.3(LAMP2):c.42C>G (p.Leu14=)
|
rs727503122
|
|
NM_002294.3(LAMP2):c.450T>C (p.Leu150=)
|
rs2147283088
|
|
NM_002294.3(LAMP2):c.45T>A (p.Val15=)
|
|
|
NM_002294.3(LAMP2):c.465T>C (p.Ser155=)
|
|
|
NM_002294.3(LAMP2):c.533A>G (p.Gln178Arg)
|
rs775432228
|
|
NM_002294.3(LAMP2):c.546G>T (p.Val182=)
|
rs2147282968
|
|
NM_002294.3(LAMP2):c.556+10G>A
|
|
|
NM_002294.3(LAMP2):c.557-10C>G
|
|
|
NM_002294.3(LAMP2):c.557-11G>A
|
|
|
NM_002294.3(LAMP2):c.557-20T>A
|
rs2147282562
|
|
NM_002294.3(LAMP2):c.562C>T (p.Leu188=)
|
|
|
NM_002294.3(LAMP2):c.576C>T (p.Asp192=)
|
rs1569369724
|
|
NM_002294.3(LAMP2):c.579A>G (p.Lys193=)
|
|
|
NM_002294.3(LAMP2):c.582T>C (p.Thr194=)
|
rs1602535931
|
|
NM_002294.3(LAMP2):c.600C>T (p.Thr200=)
|
rs2147282502
|
|
NM_002294.3(LAMP2):c.609C>A (p.Thr203=)
|
rs1602535881
|
|
NM_002294.3(LAMP2):c.636T>C (p.Pro212=)
|
|
|
NM_002294.3(LAMP2):c.64+15C>A
|
|
|
NM_002294.3(LAMP2):c.64+20C>T
|
|
|
NM_002294.3(LAMP2):c.65-20_65-18del
|
|
|
NM_002294.3(LAMP2):c.65-6A>T
|
|
|
NM_002294.3(LAMP2):c.697C>T (p.Leu233=)
|
|
|
NM_002294.3(LAMP2):c.6G>A (p.Val2=)
|
rs2147294923
|
|
NM_002294.3(LAMP2):c.741+10_741+11insTT
|
|
|
NM_002294.3(LAMP2):c.741+13A>G
|
|
|
NM_002294.3(LAMP2):c.741+7G>T
|
rs2147282351
|
|
NM_002294.3(LAMP2):c.742-11T>C
|
|
|
NM_002294.3(LAMP2):c.742-8T>C
|
|
|
NM_002294.3(LAMP2):c.786A>G (p.Thr262=)
|
|
|
NM_002294.3(LAMP2):c.807T>C (p.Thr269=)
|
rs1211870519
|
|
NM_002294.3(LAMP2):c.864+18T>C
|
rs2147281341
|
|
NM_002294.3(LAMP2):c.864+7A>G
|
|
|
NM_002294.3(LAMP2):c.864+8A>T
|
rs923254412
|
|
NM_002294.3(LAMP2):c.865-12dup
|
rs746330494
|
|
NM_002294.3(LAMP2):c.865-18A>T
|
|
|
NM_002294.3(LAMP2):c.865-4del
|
rs781417368
|
|
NM_002294.3(LAMP2):c.865-8T>C
|
rs2147279553
|
|
NM_002294.3(LAMP2):c.865-8del
|
rs746330494
|
|
NM_002294.3(LAMP2):c.876C>T (p.Asn292=)
|
|
|
NM_002294.3(LAMP2):c.907A>T (p.Met303Leu)
|
|
|
NM_002294.3(LAMP2):c.90A>G (p.Glu30=)
|
rs1602540965
|
|
NM_002294.3(LAMP2):c.928+11C>T
|
|
|
NM_002294.3(LAMP2):c.928+18C>T
|
|
|
NM_002294.3(LAMP2):c.928+8A>T
|
|
|
NM_002294.3(LAMP2):c.929-12T>C
|
rs2147278991
|
|
NM_002294.3(LAMP2):c.929-13C>G
|
|
|
NM_002294.3(LAMP2):c.929-4G>C
|
|
|
NM_002294.3(LAMP2):c.966T>C (p.Asp322=)
|
rs2147278937
|
|
NM_002294.3(LAMP2):c.969C>A (p.Ala323=)
|
rs1602532246
|
|
NM_002294.3(LAMP2):c.987T>C (p.Tyr329=)
|
|
|
NM_002294.3(LAMP2):c.9C>T (p.Cys3=)
|
|
|
NM_002637.4(PHKA1):c.1041+19A>T
|
|
|
NM_002637.4(PHKA1):c.1041+20G>A
|
|
|
NM_002637.4(PHKA1):c.1092T>C (p.Asn364=)
|
|
|
NM_002637.4(PHKA1):c.1137+13G>A
|
|
|
NM_002637.4(PHKA1):c.1137+17C>T
|
|
|
NM_002637.4(PHKA1):c.1138-20C>T
|
|
|
NM_002637.4(PHKA1):c.1176A>C (p.Arg392=)
|
|
|
NM_002637.4(PHKA1):c.1245+20C>A
|
|
|
NM_002637.4(PHKA1):c.126T>C (p.Ala42=)
|
|
|
NM_002637.4(PHKA1):c.1275C>T (p.Pro425=)
|
|
|
NM_002637.4(PHKA1):c.1276C>T (p.Leu426=)
|
|
|
NM_002637.4(PHKA1):c.1285A>C (p.Arg429=)
|
|
|
NM_002637.4(PHKA1):c.1296T>A (p.Thr432=)
|
|
|
NM_002637.4(PHKA1):c.1308C>T (p.Pro436=)
|
|
|
NM_002637.4(PHKA1):c.1325-5T>C
|
|
|
NM_002637.4(PHKA1):c.1431T>A (p.Arg477=)
|
|
|
NM_002637.4(PHKA1):c.1459+19C>T
|
|
|
NM_002637.4(PHKA1):c.1460-15T>A
|
|
|
NM_002637.4(PHKA1):c.1460-15T>C
|
|
|
NM_002637.4(PHKA1):c.1460-17T>C
|
|
|
NM_002637.4(PHKA1):c.1536C>T (p.Asp512=)
|
|
|
NM_002637.4(PHKA1):c.1569+16T>A
|
|
|
NM_002637.4(PHKA1):c.1569+19A>G
|
|
|
NM_002637.4(PHKA1):c.169T>C (p.Leu57=)
|
|
|
NM_002637.4(PHKA1):c.1749G>C (p.Leu583=)
|
|
|
NM_002637.4(PHKA1):c.174C>T (p.Gly58=)
|
|
|
NM_002637.4(PHKA1):c.1776G>T (p.Gly592=)
|
|
|
NM_002637.4(PHKA1):c.1793+14A>G
|
|
|
NM_002637.4(PHKA1):c.1793+18A>G
|
|
|
NM_002637.4(PHKA1):c.1961-14C>G
|
|
|
NM_002637.4(PHKA1):c.198C>T (p.Asp66=)
|
|
|
NM_002637.4(PHKA1):c.2007G>A (p.Ala669=)
|
|
|
NM_002637.4(PHKA1):c.2019C>G (p.Pro673=)
|
|
|
NM_002637.4(PHKA1):c.2137+13G>A
|
|
|
NM_002637.4(PHKA1):c.2138-16T>C
|
|
|
NM_002637.4(PHKA1):c.2138-5T>C
|
|
|
NM_002637.4(PHKA1):c.2229+15G>A
|
|
|
NM_002637.4(PHKA1):c.2230-18T>C
|
|
|
NM_002637.4(PHKA1):c.229T>C (p.Leu77=)
|
rs2054402218
|
|
NM_002637.4(PHKA1):c.2369+17A>G
|
|
|
NM_002637.4(PHKA1):c.237+16A>G
|
|
|
NM_002637.4(PHKA1):c.2370-13G>A
|
|
|
NM_002637.4(PHKA1):c.238-14A>C
|
|
|
NM_002637.4(PHKA1):c.2439G>C (p.Leu813=)
|
rs2052803141
|
|
NM_002637.4(PHKA1):c.2527-12A>G
|
|
|
NM_002637.4(PHKA1):c.2606+7A>G
|
|
|
NM_002637.4(PHKA1):c.2607-15T>G
|
rs2147681346
|
|
NM_002637.4(PHKA1):c.2607-7T>C
|
|
|
NM_002637.4(PHKA1):c.2613G>A (p.Leu871=)
|
|
|
NM_002637.4(PHKA1):c.2667C>T (p.Ser889=)
|
|
|
NM_002637.4(PHKA1):c.2685+13G>A
|
|
|
NM_002637.4(PHKA1):c.2685+17A>G
|
|
|
NM_002637.4(PHKA1):c.2685+8_2685+10del
|
rs782176924
|
|
NM_002637.4(PHKA1):c.2697A>G (p.Val899=)
|
|
|
NM_002637.4(PHKA1):c.2739T>G (p.Ala913=)
|
|
|
NM_002637.4(PHKA1):c.2751A>T (p.Arg917=)
|
|
|
NM_002637.4(PHKA1):c.280A>C (p.Arg94=)
|
|
|
NM_002637.4(PHKA1):c.2815+15A>G
|
|
|
NM_002637.4(PHKA1):c.285+7T>C
|
|
|
NM_002637.4(PHKA1):c.2856G>A (p.Ser952=)
|
rs782602098
|
|
NM_002637.4(PHKA1):c.286-9T>C
|
|
|
NM_002637.4(PHKA1):c.3006C>A (p.Ile1002=)
|
|
|
NM_002637.4(PHKA1):c.3024G>A (p.Glu1008=)
|
|
|
NM_002637.4(PHKA1):c.303C>T (p.Ser101=)
|
|
|
NM_002637.4(PHKA1):c.3042T>C (p.Phe1014=)
|
rs2147674384
|
|
NM_002637.4(PHKA1):c.3081A>T (p.Gly1027=)
|
|
|
NM_002637.4(PHKA1):c.3120A>G (p.Ala1040=)
|
|
|
NM_002637.4(PHKA1):c.3243+7A>G
|
|
|
NM_002637.4(PHKA1):c.3244-19T>C
|
|
|
NM_002637.4(PHKA1):c.3244-29_3244-15del
|
|
|
NM_002637.4(PHKA1):c.3255T>G (p.Leu1085=)
|
|
|
NM_002637.4(PHKA1):c.3297+11C>G
|
|
|
NM_002637.4(PHKA1):c.3298-7A>G
|
|
|
NM_002637.4(PHKA1):c.3366G>A (p.Glu1122=)
|
|
|
NM_002637.4(PHKA1):c.3444C>A (p.Ile1148=)
|
|
|
NM_002637.4(PHKA1):c.3474C>T (p.Ala1158=)
|
|
|
NM_002637.4(PHKA1):c.3501A>G (p.Lys1167=)
|
rs782682520
|
|
NM_002637.4(PHKA1):c.3510C>T (p.Gly1170=)
|
|
|
NM_002637.4(PHKA1):c.3526T>C (p.Leu1176=)
|
|
|
NM_002637.4(PHKA1):c.3621C>T (p.Ala1207=)
|
|
|
NM_002637.4(PHKA1):c.3630C>T (p.Tyr1210=)
|
|
|
NM_002637.4(PHKA1):c.3657C>T (p.Ile1219=)
|
|
|
NM_002637.4(PHKA1):c.384T>C (p.Asp128=)
|
|
|
NM_002637.4(PHKA1):c.387A>G (p.Gln129=)
|
|
|
NM_002637.4(PHKA1):c.426G>A (p.Leu142=)
|
|
|
NM_002637.4(PHKA1):c.454+12G>A
|
|
|
NM_002637.4(PHKA1):c.455-5C>T
|
|
|
NM_002637.4(PHKA1):c.534T>G (p.Thr178=)
|
|
|
NM_002637.4(PHKA1):c.538-19A>G
|
|
|
NM_002637.4(PHKA1):c.543C>T (p.Phe181=)
|
|
|
NM_002637.4(PHKA1):c.618+16T>G
|
|
|
NM_002637.4(PHKA1):c.663A>G (p.Lys221=)
|
|
|
NM_002637.4(PHKA1):c.691C>T (p.Leu231=)
|
|
|
NM_002637.4(PHKA1):c.6G>A (p.Arg2=)
|
|
|
NM_002637.4(PHKA1):c.718-9T>C
|
|
|
NM_002637.4(PHKA1):c.732A>C (p.Ser244=)
|
|
|
NM_002637.4(PHKA1):c.777A>G (p.Leu259=)
|
rs1015048037
|
|
NM_002637.4(PHKA1):c.78+15G>A
|
|
|
NM_002637.4(PHKA1):c.78+16TC[2]
|
rs781902933
|
|
NM_002637.4(PHKA1):c.864+12T>A
|
|
|
NM_002637.4(PHKA1):c.900A>G (p.Gly300=)
|
|
|
NM_002637.4(PHKA1):c.919-17T>C
|
|
|
NM_002637.4(PHKA1):c.975G>A (p.Glu325=)
|
|
|
NM_002863.5(PYGL):c.1038G>T (p.Ala346=)
|
rs759759626
|
|
NM_002863.5(PYGL):c.1093-16C>T
|
|
|
NM_002863.5(PYGL):c.1093-7C>G
|
|
|
NM_002863.5(PYGL):c.1137A>G (p.Thr379=)
|
|
|
NM_002863.5(PYGL):c.117G>T (p.Thr39=)
|
|
|
NM_002863.5(PYGL):c.1252T>C (p.Leu418=)
|
|
|
NM_002863.5(PYGL):c.1365C>T (p.Gly455=)
|
|
|
NM_002863.5(PYGL):c.1389C>T (p.Ile463=)
|
|
|
NM_002863.5(PYGL):c.1403+7C>G
|
|
|
NM_002863.5(PYGL):c.1404-10C>T
|
|
|
NM_002863.5(PYGL):c.1605C>T (p.Leu535=)
|
|
|
NM_002863.5(PYGL):c.1620+12A>T
|
rs377310825
|
|
NM_002863.5(PYGL):c.1668G>A (p.Val556=)
|
rs1213156043
|
|
NM_002863.5(PYGL):c.166C>T (p.Leu56=)
|
|
|
NM_002863.5(PYGL):c.1768+10C>T
|
rs780893472
|
|
NM_002863.5(PYGL):c.1769-15C>T
|
rs1269501651
|
|
NM_002863.5(PYGL):c.1827+19A>G
|
|
|
NM_002863.5(PYGL):c.1969+7C>A
|
|
|
NM_002863.5(PYGL):c.1970-7C>G
|
|
|
NM_002863.5(PYGL):c.2062C>G (p.Leu688Val)
|
|
|
NM_002863.5(PYGL):c.2163T>C (p.Ala721=)
|
|
|
NM_002863.5(PYGL):c.2177+17T>C
|
|
|
NM_002863.5(PYGL):c.2178-10T>A
|
rs879201864
|
|
NM_002863.5(PYGL):c.2181C>T (p.Tyr727=)
|
|
|
NM_002863.5(PYGL):c.2197T>C (p.Tyr733His)
|
|
|
NM_002863.5(PYGL):c.2313-20T>C
|
|
|
NM_002863.5(PYGL):c.2430G>A (p.Gly810=)
|
|
|
NM_002863.5(PYGL):c.2502G>A (p.Lys834=)
|
|
|
NM_002863.5(PYGL):c.258C>A (p.Leu86=)
|
|
|
NM_002863.5(PYGL):c.309C>G (p.Leu103=)
|
rs773420518
|
|
NM_002863.5(PYGL):c.390T>C (p.Ala130=)
|
|
|
NM_002863.5(PYGL):c.393A>G (p.Gly131=)
|
|
|
NM_002863.5(PYGL):c.528+15T>A
|
|
|
NM_002863.5(PYGL):c.660+12_660+33del
|
rs2050523960
|
|
NM_002863.5(PYGL):c.661-20G>C
|
|
|
NM_002863.5(PYGL):c.825C>T (p.Asn275=)
|
|
|
NM_003384.3(VRK1):c.-5-146A>G
|
|
|
NM_003384.3(VRK1):c.1038T>C (p.Asn346=)
|
rs2139815079
|
|
NM_003384.3(VRK1):c.1056A>G (p.Lys352=)
|
rs2139815109
|
|
NM_003384.3(VRK1):c.1058_1060del (p.Thr353del)
|
rs794727029
|
|
NM_003384.3(VRK1):c.1059A>C (p.Thr353=)
|
rs1226336700
|
|
NM_003384.3(VRK1):c.105G>A (p.Lys35=)
|
|
|
NM_003384.3(VRK1):c.1068+10G>A
|
|
|
NM_003384.3(VRK1):c.1068+17_1068+21del
|
|
|
NM_003384.3(VRK1):c.1068+20T>C
|
|
|
NM_003384.3(VRK1):c.1068+20T>G
|
|
|
NM_003384.3(VRK1):c.1068+9T>C
|
|
|
NM_003384.3(VRK1):c.1069-12T>G
|
|
|
NM_003384.3(VRK1):c.1069-17T>C
|
|
|
NM_003384.3(VRK1):c.1069-17T>G
|
|
|
NM_003384.3(VRK1):c.1069-19_1069-16del
|
|
|
NM_003384.3(VRK1):c.1069-6T>C
|
rs1889016062
|
|
NM_003384.3(VRK1):c.1069-9A>T
|
|
|
NM_003384.3(VRK1):c.1072C>A (p.Arg358=)
|
|
|
NM_003384.3(VRK1):c.1083A>G (p.Glu361=)
|
|
|
NM_003384.3(VRK1):c.1086T>C (p.Ile362=)
|
rs2139845833
|
|
NM_003384.3(VRK1):c.1119G>A (p.Thr373=)
|
rs777515325
|
|
NM_003384.3(VRK1):c.1122A>G (p.Glu374=)
|
|
|
NM_003384.3(VRK1):c.1134A>G (p.Thr378=)
|
|
|
NM_003384.3(VRK1):c.1146G>A (p.Glu382=)
|
rs1889020417
|
|
NM_003384.3(VRK1):c.1149C>T (p.Ala383=)
|
rs1257711610
|
|
NM_003384.3(VRK1):c.1159+10A>G
|
rs756764690
|
|
NM_003384.3(VRK1):c.1159+11C>T
|
|
|
NM_003384.3(VRK1):c.1159+18G>T
|
|
|
NM_003384.3(VRK1):c.1160-14G>C
|
|
|
NM_003384.3(VRK1):c.1160-4C>G
|
|
|
NM_003384.3(VRK1):c.1160-4C>T
|
|
|
NM_003384.3(VRK1):c.1160-7C>T
|
rs1251234541
|
|
NM_003384.3(VRK1):c.1160-7del
|
|
|
NM_003384.3(VRK1):c.1161T>C (p.Arg387=)
|
rs1196862965
|
|
NM_003384.3(VRK1):c.1161T>G (p.Arg387=)
|
|
|
NM_003384.3(VRK1):c.1176G>A (p.Lys392=)
|
|
|
NM_003384.3(VRK1):c.120A>G (p.Gly40=)
|
|
|
NM_003384.3(VRK1):c.12A>T (p.Val4=)
|
|
|
NM_003384.3(VRK1):c.135A>G (p.Gln45=)
|
rs1595660598
|
|
NM_003384.3(VRK1):c.138A>G (p.Gly46=)
|
|
|
NM_003384.3(VRK1):c.150T>C (p.Cys50=)
|
rs747562164
|
|
NM_003384.3(VRK1):c.161-10T>C
|
|
|
NM_003384.3(VRK1):c.161-6A>T
|
|
|
NM_003384.3(VRK1):c.183A>G (p.Ser61=)
|
|
|
NM_003384.3(VRK1):c.216+9T>C
|
|
|
NM_003384.3(VRK1):c.217-10A>G
|
rs2139778948
|
|
NM_003384.3(VRK1):c.217-10dup
|
|
|
NM_003384.3(VRK1):c.217-12T>C
|
|
|
NM_003384.3(VRK1):c.217-14T>C
|
|
|
NM_003384.3(VRK1):c.217-7T>C
|
rs2139778978
|
|
NM_003384.3(VRK1):c.217-8_217-7del
|
|
|
NM_003384.3(VRK1):c.217-9T>C
|
rs529433051
|
|
NM_003384.3(VRK1):c.217-9del
|
rs2139778965
|
|
NM_003384.3(VRK1):c.219A>G (p.Glu73=)
|
|
|
NM_003384.3(VRK1):c.21T>C (p.Ala7=)
|
|
|
NM_003384.3(VRK1):c.222C>T (p.Pro74=)
|
|
|
NM_003384.3(VRK1):c.237T>G (p.Pro79=)
|
|
|
NM_003384.3(VRK1):c.252A>G (p.Leu84=)
|
|
|
NM_003384.3(VRK1):c.261C>T (p.Tyr87=)
|
rs748309797
|
|
NM_003384.3(VRK1):c.270T>C (p.Ala90=)
|
|
|
NM_003384.3(VRK1):c.286+11C>A
|
|
|
NM_003384.3(VRK1):c.286+11C>T
|
|
|
NM_003384.3(VRK1):c.286+15A>G
|
|
|
NM_003384.3(VRK1):c.287-11T>C
|
|
|
NM_003384.3(VRK1):c.287-4G>A
|
rs1395180911
|
|
NM_003384.3(VRK1):c.287-4G>T
|
rs1395180911
|
|
NM_003384.3(VRK1):c.287-7T>C
|
|
|
NM_003384.3(VRK1):c.287-8_287-7delinsTA
|
rs1064795545
|
|
NM_003384.3(VRK1):c.306C>G (p.Thr102=)
|
rs1326352230
|
|
NM_003384.3(VRK1):c.312G>A (p.Lys104=)
|
rs1269621133
|
|
NM_003384.3(VRK1):c.327T>A (p.Gly109=)
|
|
|
NM_003384.3(VRK1):c.330T>C (p.Val110=)
|
|
|
NM_003384.3(VRK1):c.339T>C (p.Tyr113=)
|
|
|
NM_003384.3(VRK1):c.354A>G (p.Leu118=)
|
|
|
NM_003384.3(VRK1):c.374+15G>C
|
|
|
NM_003384.3(VRK1):c.374+7A>T
|
|
|
NM_003384.3(VRK1):c.375-10T>C
|
rs2139795498
|
|
NM_003384.3(VRK1):c.375-12A>G
|
|
|
NM_003384.3(VRK1):c.375-19T>C
|
|
|
NM_003384.3(VRK1):c.375-4T>C
|
|
|
NM_003384.3(VRK1):c.378C>T (p.Tyr126=)
|
rs1344283744
|
|
NM_003384.3(VRK1):c.381G>A (p.Arg127=)
|
rs2139795531
|
|
NM_003384.3(VRK1):c.396T>C (p.Asp132=)
|
rs2139795583
|
|
NM_003384.3(VRK1):c.399C>T (p.Arg133=)
|
|
|
NM_003384.3(VRK1):c.426T>C (p.Tyr142=)
|
rs2139795639
|
|
NM_003384.3(VRK1):c.444G>A (p.Arg148=)
|
|
|
NM_003384.3(VRK1):c.456A>G (p.Lys152=)
|
rs2139795727
|
|
NM_003384.3(VRK1):c.459T>C (p.Thr153=)
|
rs145911601
|
|
NM_003384.3(VRK1):c.462C>A (p.Val154=)
|
rs757654085
|
|
NM_003384.3(VRK1):c.471A>C (p.Leu157=)
|
rs2139795805
|
|
NM_003384.3(VRK1):c.474C>T (p.Ser158=)
|
rs2139795825
|
|
NM_003384.3(VRK1):c.483+10_483+23del
|
rs1888009081
|
|
NM_003384.3(VRK1):c.483+12A>G
|
|
|
NM_003384.3(VRK1):c.483+15T>A
|
|
|
NM_003384.3(VRK1):c.483+17C>G
|
|
|
NM_003384.3(VRK1):c.483+20dup
|
|
|
NM_003384.3(VRK1):c.483+8A>G
|
rs2139795917
|
|
NM_003384.3(VRK1):c.484-15A>T
|
|
|
NM_003384.3(VRK1):c.484-16T>C
|
|
|
NM_003384.3(VRK1):c.484-18T>C
|
|
|
NM_003384.3(VRK1):c.484-18T>G
|
|
|
NM_003384.3(VRK1):c.484-5C>T
|
|
|
NM_003384.3(VRK1):c.484-6T>G
|
|
|
NM_003384.3(VRK1):c.484-6dup
|
rs2139796250
|
|
NM_003384.3(VRK1):c.495G>C (p.Leu165=)
|
rs2139796298
|
|
NM_003384.3(VRK1):c.513T>C (p.His171=)
|
rs2139796362
|
|
NM_003384.3(VRK1):c.516G>A (p.Glu172=)
|
rs2139796370
|
|
NM_003384.3(VRK1):c.534C>T (p.Ile178=)
|
|
|
NM_003384.3(VRK1):c.537G>A (p.Lys179=)
|
rs1888016926
|
|
NM_003384.3(VRK1):c.549T>C (p.Leu183=)
|
rs1888017489
|
|
NM_003384.3(VRK1):c.555G>C (p.Leu185=)
|
rs2139796508
|
|
NM_003384.3(VRK1):c.561C>T (p.Tyr187=)
|
rs2139796518
|
|
NM_003384.3(VRK1):c.576+11A>G
|
|
|
NM_003384.3(VRK1):c.576+18A>G
|
|
|
NM_003384.3(VRK1):c.577-11del
|
|
|
NM_003384.3(VRK1):c.577-16G>C
|
|
|
NM_003384.3(VRK1):c.577-18G>A
|
|
|
NM_003384.3(VRK1):c.577-18G>T
|
|
|
NM_003384.3(VRK1):c.577-18del
|
rs759260596
|
|
NM_003384.3(VRK1):c.577-5T>C
|
|
|
NM_003384.3(VRK1):c.57T>C (p.Leu19=)
|
rs2139748645
|
|
NM_003384.3(VRK1):c.582C>T (p.Tyr194=)
|
|
|
NM_003384.3(VRK1):c.588A>G (p.Val196=)
|
rs1387075963
|
|
NM_003384.3(VRK1):c.591T>C (p.Asp197=)
|
|
|
NM_003384.3(VRK1):c.600T>C (p.Leu200=)
|
|
|
NM_003384.3(VRK1):c.603T>G (p.Ala201=)
|
rs1157448476
|
|
NM_003384.3(VRK1):c.609G>A (p.Arg203=)
|
|
|
NM_003384.3(VRK1):c.609G>C (p.Arg203=)
|
rs1298227038
|
|
NM_003384.3(VRK1):c.615C>T (p.Cys205=)
|
rs772730428
|
|
NM_003384.3(VRK1):c.636A>G (p.Glu212=)
|
rs776975502
|
|
NM_003384.3(VRK1):c.648C>T (p.Asp216=)
|
rs765348075
|
|
NM_003384.3(VRK1):c.651C>G (p.Pro217=)
|
rs2139801938
|
|
NM_003384.3(VRK1):c.651C>T (p.Pro217=)
|
rs2139801938
|
|
NM_003384.3(VRK1):c.660T>C (p.Cys220=)
|
rs762979613
|
|
NM_003384.3(VRK1):c.669C>T (p.Gly223=)
|
|
|
NM_003384.3(VRK1):c.672T>A (p.Thr224=)
|
|
|
NM_003384.3(VRK1):c.684G>A (p.Thr228=)
|
rs753585913
|
|
NM_003384.3(VRK1):c.684G>C (p.Thr228=)
|
|
|
NM_003384.3(VRK1):c.690C>T (p.Ile230=)
|
rs747694940
|
|
NM_003384.3(VRK1):c.705C>G (p.Gly235=)
|
rs2230532
|
|
NM_003384.3(VRK1):c.709+12G>A
|
|
|
NM_003384.3(VRK1):c.709+13T>A
|
|
|
NM_003384.3(VRK1):c.709+14A>G
|
|
|
NM_003384.3(VRK1):c.709+17G>A
|
|
|
NM_003384.3(VRK1):c.709+18G>T
|
|
|
NM_003384.3(VRK1):c.709+7_709+12dup
|
|
|
NM_003384.3(VRK1):c.709+8A>G
|
|
|
NM_003384.3(VRK1):c.710-13C>G
|
|
|
NM_003384.3(VRK1):c.710-15C>G
|
rs757988438
|
|
NM_003384.3(VRK1):c.710-8A>G
|
rs781693457
|
|
NM_003384.3(VRK1):c.710-9C>T
|
|
|
NM_003384.3(VRK1):c.711C>T (p.Ala237=)
|
rs2139803845
|
|
NM_003384.3(VRK1):c.729T>C (p.Asp243=)
|
|
|
NM_003384.3(VRK1):c.72A>G (p.Ala24=)
|
|
|
NM_003384.3(VRK1):c.747T>C (p.Tyr249=)
|
|
|
NM_003384.3(VRK1):c.768T>C (p.Thr256=)
|
rs2139804008
|
|
NM_003384.3(VRK1):c.804T>C (p.Pro268=)
|
|
|
NM_003384.3(VRK1):c.804T>G (p.Pro268=)
|
|
|
NM_003384.3(VRK1):c.822C>T (p.Ser274=)
|
|
|
NM_003384.3(VRK1):c.830+12C>T
|
|
|
NM_003384.3(VRK1):c.830+16_830+20del
|
|
|
NM_003384.3(VRK1):c.830+7G>A
|
rs2139804244
|
|
NM_003384.3(VRK1):c.830+9A>G
|
rs2139804260
|
|
NM_003384.3(VRK1):c.831-12A>T
|
|
|
NM_003384.3(VRK1):c.831-16C>T
|
|
|
NM_003384.3(VRK1):c.831-9T>C
|
rs2139804862
|
|
NM_003384.3(VRK1):c.837A>G (p.Arg279=)
|
|
|
NM_003384.3(VRK1):c.864A>G (p.Lys288=)
|
rs1744342065
|
|
NM_003384.3(VRK1):c.889+10G>A
|
|
|
NM_003384.3(VRK1):c.889+10G>T
|
rs1456272984
|
|
NM_003384.3(VRK1):c.889+11A>G
|
|
|
NM_003384.3(VRK1):c.889+14T>C
|
|
|
NM_003384.3(VRK1):c.889+15C>T
|
|
|
NM_003384.3(VRK1):c.889+18C>T
|
|
|
NM_003384.3(VRK1):c.889+19A>C
|
|
|
NM_003384.3(VRK1):c.889+20G>C
|
rs1347150139
|
|
NM_003384.3(VRK1):c.889+20G>T
|
rs1347150139
|
|
NM_003384.3(VRK1):c.889+8A>G
|
|
|
NM_003384.3(VRK1):c.889+9T>C
|
rs1257886278
|
|
NM_003384.3(VRK1):c.890-10A>G
|
|
|
NM_003384.3(VRK1):c.890-15G>A
|
|
|
NM_003384.3(VRK1):c.890-19G>A
|
|
|
NM_003384.3(VRK1):c.890-19G>C
|
|
|
NM_003384.3(VRK1):c.890-22_890-15del
|
|
|
NM_003384.3(VRK1):c.890-4T>C
|
rs2139814659
|
|
NM_003384.3(VRK1):c.894A>G (p.Glu298=)
|
|
|
NM_003384.3(VRK1):c.897T>C (p.Ile299=)
|
|
|
NM_003384.3(VRK1):c.915A>G (p.Thr305=)
|
rs1481654179
|
|
NM_003384.3(VRK1):c.933C>T (p.Tyr311=)
|
|
|
NM_003384.3(VRK1):c.948T>C (p.Leu316=)
|
|
|
NM_003384.3(VRK1):c.948T>G (p.Leu316=)
|
|
|
NM_003384.3(VRK1):c.969T>C (p.Ile323=)
|
|
|
NM_003384.3(VRK1):c.972T>C (p.Leu324=)
|
rs2139814880
|
|
NM_003384.3(VRK1):c.972T>G (p.Leu324=)
|
|
|
NM_003384.3(VRK1):c.984A>G (p.Leu328=)
|
rs765633672
|
|
NM_003384.3(VRK1):c.9T>G (p.Arg3=)
|
rs771646609
|
|
NM_004130.4(GYG1):c.1005A>C (p.Ala335=)
|
rs2107925024
|
|
NM_004130.4(GYG1):c.105G>A (p.Leu35=)
|
|
|
NM_004130.4(GYG1):c.108C>T (p.Val36=)
|
|
|
NM_004130.4(GYG1):c.143+19C>A
|
|
|
NM_004130.4(GYG1):c.144-11T>G
|
|
|
NM_004130.4(GYG1):c.144-16G>A
|
|
|
NM_004130.4(GYG1):c.174C>T (p.Val58=)
|
rs751279594
|
|
NM_004130.4(GYG1):c.183A>G (p.Val61=)
|
|
|
NM_004130.4(GYG1):c.201C>A (p.Gly67=)
|
|
|
NM_004130.4(GYG1):c.234A>G (p.Pro78=)
|
|
|
NM_004130.4(GYG1):c.240G>A (p.Leu80=)
|
|
|
NM_004130.4(GYG1):c.25C>T (p.Leu9=)
|
|
|
NM_004130.4(GYG1):c.261C>T (p.Leu87=)
|
|
|
NM_004130.4(GYG1):c.273G>A (p.Ser91=)
|
|
|
NM_004130.4(GYG1):c.318+20T>G
|
|
|
NM_004130.4(GYG1):c.319-19C>G
|
rs144099043
|
|
NM_004130.4(GYG1):c.375C>T (p.Asp125=)
|
|
|
NM_004130.4(GYG1):c.411C>T (p.Phe137=)
|
|
|
NM_004130.4(GYG1):c.429T>C (p.Val143=)
|
|
|
NM_004130.4(GYG1):c.482-14T>A
|
rs1365158355
|
|
NM_004130.4(GYG1):c.501G>A (p.Leu167=)
|
|
|
NM_004130.4(GYG1):c.555T>C (p.Phe185=)
|
|
|
NM_004130.4(GYG1):c.597G>A (p.Pro199=)
|
|
|
NM_004130.4(GYG1):c.597G>T (p.Pro199=)
|
|
|
NM_004130.4(GYG1):c.609-10C>T
|
|
|
NM_004130.4(GYG1):c.609-11T>A
|
|
|
NM_004130.4(GYG1):c.609-13G>A
|
|
|
NM_004130.4(GYG1):c.609-15dup
|
|
|
NM_004130.4(GYG1):c.609-16T>C
|
rs998673604
|
|
NM_004130.4(GYG1):c.60G>T (p.Leu20=)
|
rs145419359
|
|
NM_004130.4(GYG1):c.615T>G (p.Gly205=)
|
|
|
NM_004130.4(GYG1):c.633G>A (p.Val211=)
|
|
|
NM_004130.4(GYG1):c.657A>G (p.Pro219=)
|
|
|
NM_004130.4(GYG1):c.672T>C (p.Tyr224=)
|
|
|
NM_004130.4(GYG1):c.7+17C>G
|
|
|
NM_004130.4(GYG1):c.705C>T (p.Ala235=)
|
|
|
NM_004130.4(GYG1):c.738C>T (p.Leu246=)
|
|
|
NM_004130.4(GYG1):c.765C>T (p.Thr255=)
|
|
|
NM_004130.4(GYG1):c.8-13T>C
|
|
|
NM_004130.4(GYG1):c.810C>G (p.Thr270=)
|
|
|
NM_004130.4(GYG1):c.828+9T>C
|
|
|
NM_004130.4(GYG1):c.829-17T>C
|
rs2107924343
|
|
NM_004130.4(GYG1):c.829-5T>C
|
|
|
NM_004130.4(GYG1):c.829-9T>C
|
|
|
NM_004130.4(GYG1):c.879+14A>G
|
|
|
NM_004130.4(GYG1):c.879+16A>G
|
rs2107924455
|
|
NM_004130.4(GYG1):c.880-17T>C
|
|
|
NM_004130.4(GYG1):c.880-19A>G
|
|
|
NM_004130.4(GYG1):c.880-7T>C
|
|
|
NM_004130.4(GYG1):c.954G>A (p.Ser318=)
|
|
|
NM_005271.5(GLUD1):c.1026T>C (p.Gly342=)
|
|
|
NM_005271.5(GLUD1):c.108G>A (p.Gln36=)
|
|
|
NM_005271.5(GLUD1):c.1122C>T (p.Ala374=)
|
|
|
NM_005271.5(GLUD1):c.1197+20C>G
|
|
|
NM_005271.5(GLUD1):c.1209A>G (p.Glu403=)
|
|
|
NM_005271.5(GLUD1):c.1279-19G>T
|
|
|
NM_005271.5(GLUD1):c.133C>T (p.Leu45=)
|
rs2133875409
|
|
NM_005271.5(GLUD1):c.1344T>C (p.His448=)
|
rs1845866673
|
|
NM_005271.5(GLUD1):c.1454T>C (p.Ile485Thr)
|
rs2133788934
|
|
NM_005271.5(GLUD1):c.1466C>G (p.Pro489Arg)
|
|
|
NM_005271.5(GLUD1):c.1495-14C>A
|
rs2133777461
|
|
NM_005271.5(GLUD1):c.1557+12G>A
|
rs201872390
|
|
NM_005271.5(GLUD1):c.1593A>T (p.Gly531=)
|
|
|
NM_005271.5(GLUD1):c.1617T>C (p.Tyr539=)
|
|
|
NM_005271.5(GLUD1):c.1647G>C (p.Val549=)
|
|
|
NM_005271.5(GLUD1):c.174C>A (p.Ala58=)
|
|
|
NM_005271.5(GLUD1):c.273C>T (p.Thr91=)
|
|
|
NM_005271.5(GLUD1):c.297G>C (p.Arg99=)
|
|
|
NM_005271.5(GLUD1):c.406C>A (p.Arg136=)
|
rs1405119017
|
|
NM_005271.5(GLUD1):c.446-9C>T
|
rs1846404467
|
|
NM_005271.5(GLUD1):c.456C>T (p.Tyr152=)
|
rs1846403678
|
|
NM_005271.5(GLUD1):c.526+10C>T
|
|
|
NM_005271.5(GLUD1):c.534G>T (p.Pro178=)
|
rs764675203
|
|
NM_005271.5(GLUD1):c.582+7A>G
|
|
|
NM_005271.5(GLUD1):c.647-14C>T
|
|
|
NM_005271.5(GLUD1):c.739T>C (p.Tyr247His)
|
rs2133811373
|
|
NM_005271.5(GLUD1):c.742-8del
|
|
|
NM_005271.5(GLUD1):c.756C>T (p.His252=)
|
|
|
NM_005271.5(GLUD1):c.771T>G (p.Gly257=)
|
rs144831842
|
|
NM_005271.5(GLUD1):c.78G>A (p.Ser26=)
|
|
|
NM_005271.5(GLUD1):c.859G>A (p.Ala287Thr)
|
|
|
NM_005327.7(HADH):c.117C>G (p.Gly39=)
|
|
|
NM_005327.7(HADH):c.120C>T (p.Ala40=)
|
|
|
NM_005327.7(HADH):c.123C>T (p.Gly41=)
|
|
|
NM_005327.7(HADH):c.126T>C (p.Ile42=)
|
|
|
NM_005327.7(HADH):c.132+15C>A
|
|
|
NM_005327.7(HADH):c.132+16T>A
|
|
|
NM_005327.7(HADH):c.132+19A>G
|
|
|
NM_005327.7(HADH):c.133-19T>C
|
|
|
NM_005327.7(HADH):c.133-20T>G
|
|
|
NM_005327.7(HADH):c.141A>G (p.Ala47=)
|
|
|
NM_005327.7(HADH):c.144A>T (p.Ala48=)
|
rs79881095
|
|
NM_005327.7(HADH):c.156A>G (p.Thr52=)
|
|
|
NM_005327.7(HADH):c.162G>A (p.Val54=)
|
|
|
NM_005327.7(HADH):c.163T>C (p.Leu55=)
|
|
|
NM_005327.7(HADH):c.180G>A (p.Glu60=)
|
|
|
NM_005327.7(HADH):c.18G>A (p.Arg6=)
|
|
|
NM_005327.7(HADH):c.237G>A (p.Lys79=)
|
rs150930917
|
|
NM_005327.7(HADH):c.246T>C (p.Phe82=)
|
|
|
NM_005327.7(HADH):c.249A>G (p.Ala83=)
|
|
|
NM_005327.7(HADH):c.261+10T>C
|
|
|
NM_005327.7(HADH):c.261+12T>C
|
|
|
NM_005327.7(HADH):c.261+15T>A
|
|
|
NM_005327.7(HADH):c.261+16C>A
|
|
|
NM_005327.7(HADH):c.261+16C>G
|
|
|
NM_005327.7(HADH):c.261+18A>T
|
|
|
NM_005327.7(HADH):c.261+19T>A
|
|
|
NM_005327.7(HADH):c.261+20G>A
|
|
|
NM_005327.7(HADH):c.261+7T>A
|
|
|
NM_005327.7(HADH):c.261+8C>G
|
|
|
NM_005327.7(HADH):c.261+8C>T
|
|
|
NM_005327.7(HADH):c.262-19C>T
|
rs2126229206
|
|
NM_005327.7(HADH):c.262-5A>C
|
|
|
NM_005327.7(HADH):c.262-5A>G
|
|
|
NM_005327.7(HADH):c.262-6C>T
|
|
|
NM_005327.7(HADH):c.262-8T>C
|
|
|
NM_005327.7(HADH):c.264C>T (p.Ala88=)
|
rs201324954
|
|
NM_005327.7(HADH):c.267C>T (p.Gly89=)
|
|
|
NM_005327.7(HADH):c.291G>T (p.Leu97=)
|
rs552317372
|
|
NM_005327.7(HADH):c.306C>G (p.Thr102=)
|
|
|
NM_005327.7(HADH):c.312G>A (p.Thr104=)
|
|
|
NM_005327.7(HADH):c.315T>C (p.Asp105=)
|
|
|
NM_005327.7(HADH):c.327T>C (p.Val109=)
|
|
|
NM_005327.7(HADH):c.336C>T (p.Ser112=)
|
|
|
NM_005327.7(HADH):c.351G>A (p.Val117=)
|
|
|
NM_005327.7(HADH):c.360C>T (p.Ile120=)
|
|
|
NM_005327.7(HADH):c.366G>A (p.Glu122=)
|
|
|
NM_005327.7(HADH):c.381A>G (p.Lys127=)
|
|
|
NM_005327.7(HADH):c.390C>T (p.Leu130=)
|
|
|
NM_005327.7(HADH):c.39C>T (p.Ser13=)
|
|
|
NM_005327.7(HADH):c.419+12C>G
|
|
|
NM_005327.7(HADH):c.419+14G>A
|
|
|
NM_005327.7(HADH):c.419+16A>T
|
|
|
NM_005327.7(HADH):c.419+18A>G
|
|
|
NM_005327.7(HADH):c.419+19A>G
|
|
|
NM_005327.7(HADH):c.420-10C>T
|
|
|
NM_005327.7(HADH):c.420-17A>G
|
|
|
NM_005327.7(HADH):c.420-19C>T
|
|
|
NM_005327.7(HADH):c.420-4A>G
|
|
|
NM_005327.7(HADH):c.426A>G (p.Thr142=)
|
|
|
NM_005327.7(HADH):c.450C>T (p.Ser150=)
|
|
|
NM_005327.7(HADH):c.489A>G (p.Gln163=)
|
|
|
NM_005327.7(HADH):c.48C>T (p.Ser16=)
|
|
|
NM_005327.7(HADH):c.498C>T (p.Phe166=)
|
|
|
NM_005327.7(HADH):c.525G>A (p.Val175=)
|
|
|
NM_005327.7(HADH):c.540T>C (p.Leu180=)
|
|
|
NM_005327.7(HADH):c.546+13C>T
|
|
|
NM_005327.7(HADH):c.546+15G>T
|
|
|
NM_005327.7(HADH):c.546+18dup
|
rs2126232168
|
|
NM_005327.7(HADH):c.546+9G>A
|
|
|
NM_005327.7(HADH):c.547-10G>T
|
|
|
NM_005327.7(HADH):c.547-19C>A
|
|
|
NM_005327.7(HADH):c.54C>A (p.Ala18=)
|
|
|
NM_005327.7(HADH):c.567C>T (p.Thr189=)
|
|
|
NM_005327.7(HADH):c.594A>G (p.Val198=)
|
|
|
NM_005327.7(HADH):c.600T>C (p.Phe200=)
|
|
|
NM_005327.7(HADH):c.612A>G (p.Leu204=)
|
|
|
NM_005327.7(HADH):c.615A>G (p.Gly205=)
|
|
|
NM_005327.7(HADH):c.636+16G>A
|
|
|
NM_005327.7(HADH):c.636+16G>T
|
|
|
NM_005327.7(HADH):c.636+18T>C
|
|
|
NM_005327.7(HADH):c.636+20G>A
|
|
|
NM_005327.7(HADH):c.636+7G>C
|
|
|
NM_005327.7(HADH):c.637-10C>T
|
|
|
NM_005327.7(HADH):c.637-18T>C
|
|
|
NM_005327.7(HADH):c.637-20T>C
|
|
|
NM_005327.7(HADH):c.637-7A>C
|
|
|
NM_005327.7(HADH):c.639C>T (p.Asp213=)
|
|
|
NM_005327.7(HADH):c.642T>C (p.Thr214=)
|
|
|
NM_005327.7(HADH):c.651T>C (p.Phe217=)
|
|
|
NM_005327.7(HADH):c.663C>T (p.Arg221=)
|
|
|
NM_005327.7(HADH):c.709+17G>A
|
|
|
NM_005327.7(HADH):c.709+8T>A
|
rs2126237037
|
|
NM_005327.7(HADH):c.710-11T>A
|
|
|
NM_005327.7(HADH):c.710-11T>G
|
|
|
NM_005327.7(HADH):c.710-13G>A
|
|
|
NM_005327.7(HADH):c.710-14_710-11dup
|
|
|
NM_005327.7(HADH):c.710-15C>T
|
|
|
NM_005327.7(HADH):c.710-18C>T
|
|
|
NM_005327.7(HADH):c.710-19G>A
|
|
|
NM_005327.7(HADH):c.756C>G (p.Ala252=)
|
|
|
NM_005327.7(HADH):c.756C>T (p.Ala252=)
|
|
|
NM_005327.7(HADH):c.765C>G (p.Pro255=)
|
|
|
NM_005327.7(HADH):c.771C>T (p.Gly257=)
|
|
|
NM_005327.7(HADH):c.774A>G (p.Pro258=)
|
|
|
NM_005327.7(HADH):c.810G>A (p.Thr270=)
|
|
|
NM_005327.7(HADH):c.819C>T (p.Ile273=)
|
|
|
NM_005327.7(HADH):c.826+13del
|
|
|
NM_005327.7(HADH):c.826+8T>C
|
|
|
NM_005327.7(HADH):c.827-18C>T
|
|
|
NM_005327.7(HADH):c.827-20C>G
|
|
|
NM_005327.7(HADH):c.827-20C>T
|
|
|
NM_005327.7(HADH):c.827-4A>C
|
rs1381056065
|
|
NM_005327.7(HADH):c.828G>A (p.Gly276=)
|
|
|
NM_005327.7(HADH):c.846A>G (p.Ala282=)
|
|
|
NM_005327.7(HADH):c.873A>G (p.Pro291=)
|
|
|
NM_005327.7(HADH):c.87C>T (p.His29=)
|
|
|
NM_005327.7(HADH):c.897G>A (p.Glu299=)
|
|
|
NM_005327.7(HADH):c.906C>T (p.Phe302=)
|
|
|
NM_005327.7(HADH):c.909C>T (p.Gly303=)
|
|
|
NM_005327.7(HADH):c.921A>T (p.Gly307=)
|
|
|
NM_005327.7(HADH):c.93G>A (p.Thr31=)
|
|
|
NM_005327.7(HADH):c.99C>T (p.Ile33=)
|
rs74428123
|
|
NM_005566.4(LDHA):c.126+17C>T
|
|
|
NM_005566.4(LDHA):c.138T>C (p.Asp46=)
|
rs2134021527
|
|
NM_005566.4(LDHA):c.172T>C (p.Leu58=)
|
|
|
NM_005566.4(LDHA):c.231T>C (p.Ile77=)
|
|
|
NM_005566.4(LDHA):c.245-11C>T
|
|
|
NM_005566.4(LDHA):c.273G>C (p.Leu91=)
|
|
|
NM_005566.4(LDHA):c.300G>A (p.Gln100=)
|
|
|
NM_005566.4(LDHA):c.315C>T (p.Ser105=)
|
|
|
NM_005566.4(LDHA):c.339C>T (p.Asn113=)
|
|
|
NM_005566.4(LDHA):c.419-16T>G
|
|
|
NM_005566.4(LDHA):c.543C>T (p.His181=)
|
|
|
NM_005566.4(LDHA):c.57C>G (p.Pro19=)
|
|
|
NM_005566.4(LDHA):c.592+17T>G
|
|
|
NM_005566.4(LDHA):c.593-11A>G
|
|
|
NM_005566.4(LDHA):c.593-20G>A
|
|
|
NM_005566.4(LDHA):c.593-7C>A
|
rs1866576661
|
|
NM_005566.4(LDHA):c.710+16A>T
|
|
|
NM_005566.4(LDHA):c.710+19T>C
|
rs1430822822
|
|
NM_005566.4(LDHA):c.711-19A>G
|
|
|
NM_005566.4(LDHA):c.732C>T (p.Leu244=)
|
|
|
NM_005566.4(LDHA):c.762C>G (p.Leu254=)
|
|
|
NM_005566.4(LDHA):c.768A>C (p.Val256=)
|
|
|
NM_005566.4(LDHA):c.810G>A (p.Val270=)
|
|
|
NM_005566.4(LDHA):c.834+20C>T
|
|
|
NM_005566.4(LDHA):c.835-14C>T
|
|
|
NM_005566.4(LDHA):c.835-14_835-11del
|
|
|
NM_005566.4(LDHA):c.835-8A>C
|
|
|
NM_005566.4(LDHA):c.843C>T (p.Tyr281=)
|
|
|
NM_005566.4(LDHA):c.861C>T (p.Val287=)
|
|
|
NM_005566.4(LDHA):c.882T>C (p.Ile294=)
|
|
|
NM_005566.4(LDHA):c.933G>A (p.Glu311=)
|
|
|
NM_005566.4(LDHA):c.942C>G (p.Ala314=)
|
|
|
NM_005566.4(LDHA):c.999_*1del (p.Phe332_Ter333insTer)
|
|
|
NM_005609.4(PYGM):c.1000-12C>T
|
|
|
NM_005609.4(PYGM):c.1000-13C>A
|
|
|
NM_005609.4(PYGM):c.1000-15C>T
|
|
|
NM_005609.4(PYGM):c.1000-17C>T
|
|
|
NM_005609.4(PYGM):c.1000-18C>T
|
|
|
NM_005609.4(PYGM):c.1000-20G>T
|
|
|
NM_005609.4(PYGM):c.1000-24_1000-14dup
|
|
|
NM_005609.4(PYGM):c.1000-6C>T
|
rs2135834766
|
|
NM_005609.4(PYGM):c.1000-9C>G
|
rs2135834771
|
|
NM_005609.4(PYGM):c.100C>A (p.Arg34=)
|
rs531748591
|
|
NM_005609.4(PYGM):c.1020C>T (p.Asp340=)
|
rs1376160425
|
|
NM_005609.4(PYGM):c.1029C>T (p.Pro343=)
|
|
|
NM_005609.4(PYGM):c.1032C>T (p.Ser344=)
|
|
|
NM_005609.4(PYGM):c.1048C>T (p.Leu350=)
|
|
|
NM_005609.4(PYGM):c.1059C>A (p.Ile353=)
|
rs766772774
|
|
NM_005609.4(PYGM):c.105C>T (p.His35=)
|
|
|
NM_005609.4(PYGM):c.1060C>T (p.Leu354=)
|
rs560441482
|
|
NM_005609.4(PYGM):c.1068C>T (p.Asp356=)
|
|
|
NM_005609.4(PYGM):c.106C>T (p.Leu36=)
|
|
|
NM_005609.4(PYGM):c.1071G>C (p.Leu357=)
|
|
|
NM_005609.4(PYGM):c.1093-13C>A
|
|
|
NM_005609.4(PYGM):c.1093-16C>G
|
|
|
NM_005609.4(PYGM):c.1093-18G>T
|
|
|
NM_005609.4(PYGM):c.1093-20C>T
|
|
|
NM_005609.4(PYGM):c.1093-6T>C
|
|
|
NM_005609.4(PYGM):c.1093-9G>A
|
rs571244371
|
|
NM_005609.4(PYGM):c.1113G>A (p.Arg371=)
|
rs777245778
|
|
NM_005609.4(PYGM):c.111T>C (p.His37=)
|
rs2135842719
|
|
NM_005609.4(PYGM):c.1128C>T (p.Thr376=)
|
|
|
NM_005609.4(PYGM):c.1137G>A (p.Thr379=)
|
rs756447366
|
|
NM_005609.4(PYGM):c.1137G>T (p.Thr379=)
|
|
|
NM_005609.4(PYGM):c.1149G>A (p.Glu383=)
|
|
|
NM_005609.4(PYGM):c.114C>T (p.Phe38=)
|
|
|
NM_005609.4(PYGM):c.1176C>G (p.Leu392=)
|
|
|
NM_005609.4(PYGM):c.1179G>A (p.Leu393=)
|
|
|
NM_005609.4(PYGM):c.117A>G (p.Thr39=)
|
rs2135842695
|
|
NM_005609.4(PYGM):c.1189C>T (p.Leu397=)
|
rs1592411631
|
|
NM_005609.4(PYGM):c.1195C>A (p.Arg399=)
|
rs747675778
|
|
NM_005609.4(PYGM):c.1206G>A (p.Gln402=)
|
|
|
NM_005609.4(PYGM):c.120C>A (p.Leu40=)
|
|
|
NM_005609.4(PYGM):c.120C>G (p.Leu40=)
|
rs370819554
|
|
NM_005609.4(PYGM):c.1212C>T (p.Ile404=)
|
rs2135833826
|
|
NM_005609.4(PYGM):c.1218G>A (p.Glu406=)
|
rs757762621
|
|
NM_005609.4(PYGM):c.1224C>T (p.Asn408=)
|
rs1440882452
|
|
NM_005609.4(PYGM):c.1239+13G>C
|
|
|
NM_005609.4(PYGM):c.1239+17G>T
|
|
|
NM_005609.4(PYGM):c.1239+8C>A
|
rs886048461
|
|
NM_005609.4(PYGM):c.1240-13_1240-12delinsAA
|
rs2135833430
|
|
NM_005609.4(PYGM):c.1240-19C>A
|
|
|
NM_005609.4(PYGM):c.1240-22_1240-20del
|
|
|
NM_005609.4(PYGM):c.1240-9T>C
|
rs2135833424
|
|
NM_005609.4(PYGM):c.1242G>A (p.Arg414=)
|
|
|
NM_005609.4(PYGM):c.1245G>A (p.Val415=)
|
rs2135833386
|
|
NM_005609.4(PYGM):c.1248G>C (p.Ala416=)
|
|
|
NM_005609.4(PYGM):c.1251C>G (p.Ala417=)
|
rs1328262607
|
|
NM_005609.4(PYGM):c.1254A>G (p.Ala418=)
|
|
|
NM_005609.4(PYGM):c.1260A>C (p.Pro420=)
|
|
|
NM_005609.4(PYGM):c.1260A>T (p.Pro420=)
|
rs2135833329
|
|
NM_005609.4(PYGM):c.1263G>A (p.Gly421=)
|
rs2135833320
|
|
NM_005609.4(PYGM):c.1263G>C (p.Gly421=)
|
|
|
NM_005609.4(PYGM):c.1267G>A (p.Val423Ile)
|
|
|
NM_005609.4(PYGM):c.126G>A (p.Lys42=)
|
|
|
NM_005609.4(PYGM):c.1273C>A (p.Arg425=)
|
rs577821154
|
|
NM_005609.4(PYGM):c.1275G>C (p.Arg425=)
|
|
|
NM_005609.4(PYGM):c.1275G>T (p.Arg425=)
|
|
|
NM_005609.4(PYGM):c.1284C>T (p.Arg428=)
|
|
|
NM_005609.4(PYGM):c.1302G>A (p.Glu434=)
|
|
|
NM_005609.4(PYGM):c.1305C>A (p.Gly435=)
|
|
|
NM_005609.4(PYGM):c.1320C>A (p.Ile440=)
|
|
|
NM_005609.4(PYGM):c.1323C>T (p.Asn441=)
|
rs1202544673
|
|
NM_005609.4(PYGM):c.1333C>T (p.Leu445=)
|
rs2135833136
|
|
NM_005609.4(PYGM):c.1338C>T (p.Cys446=)
|
|
|
NM_005609.4(PYGM):c.1339A>C (p.Ile447Leu)
|
rs568496266
|
|
NM_005609.4(PYGM):c.1341C>T (p.Ile447=)
|
rs1483894861
|
|
NM_005609.4(PYGM):c.1344G>A (p.Ala448=)
|
rs1466751658
|
|
NM_005609.4(PYGM):c.1350G>A (p.Ser450=)
|
rs1399322723
|
|
NM_005609.4(PYGM):c.1350G>T (p.Ser450=)
|
rs1399322723
|
|
NM_005609.4(PYGM):c.1356C>G (p.Ala452=)
|
rs756953943
|
|
NM_005609.4(PYGM):c.1356C>T (p.Ala452=)
|
rs756953943
|
|
NM_005609.4(PYGM):c.135T>C (p.Asn45=)
|
rs2058421873
|
|
NM_005609.4(PYGM):c.1365C>G (p.Gly455=)
|
|
|
NM_005609.4(PYGM):c.1368G>A (p.Val456=)
|
|
|
NM_005609.4(PYGM):c.1371G>T (p.Ala457=)
|
|
|
NM_005609.4(PYGM):c.1374C>T (p.Arg458=)
|
|
|
NM_005609.4(PYGM):c.1383C>G (p.Ser461=)
|
rs775978754
|
|
NM_005609.4(PYGM):c.1389C>T (p.Ile463=)
|
|
|
NM_005609.4(PYGM):c.138G>A (p.Val46=)
|
rs776928047
|
|
NM_005609.4(PYGM):c.1398G>A (p.Lys466=)
|
|
|
NM_005609.4(PYGM):c.1403+12T>C
|
|
|
NM_005609.4(PYGM):c.1403+15C>G
|
|
|
NM_005609.4(PYGM):c.1403+7C>A
|
|
|
NM_005609.4(PYGM):c.1403+7C>T
|
rs2135832833
|
|
NM_005609.4(PYGM):c.1403+8C>A
|
|
|
NM_005609.4(PYGM):c.1403+9C>T
|
|
|
NM_005609.4(PYGM):c.1404-16C>T
|
|
|
NM_005609.4(PYGM):c.1404-19G>A
|
|
|
NM_005609.4(PYGM):c.1404-4G>T
|
rs1397436069
|
|
NM_005609.4(PYGM):c.1404-9A>C
|
rs2135832402
|
|
NM_005609.4(PYGM):c.1419T>C (p.Tyr473=)
|
|
|
NM_005609.4(PYGM):c.141C>T (p.Ala47=)
|
|
|
NM_005609.4(PYGM):c.1431T>A (p.Pro477=)
|
rs2135832336
|
|
NM_005609.4(PYGM):c.1437G>A (p.Lys479=)
|
rs2058368149
|
|
NM_005609.4(PYGM):c.1440C>T (p.Phe480=)
|
rs2135832303
|
|
NM_005609.4(PYGM):c.1458C>G (p.Gly486=)
|
|
|
NM_005609.4(PYGM):c.1461C>A (p.Ile487=)
|
|
|
NM_005609.4(PYGM):c.1498C>T (p.Leu500=)
|
rs2058367583
|
|
NM_005609.4(PYGM):c.1506G>A (p.Glu502=)
|
rs2058367541
|
|
NM_005609.4(PYGM):c.150A>G (p.Arg50=)
|
|
|
NM_005609.4(PYGM):c.1515T>C (p.Ala505=)
|
|
|
NM_005609.4(PYGM):c.1518+10C>T
|
|
|
NM_005609.4(PYGM):c.1518+12C>T
|
|
|
NM_005609.4(PYGM):c.1518+13C>T
|
|
|
NM_005609.4(PYGM):c.1518+15T>C
|
|
|
NM_005609.4(PYGM):c.1518+18G>A
|
|
|
NM_005609.4(PYGM):c.1518+7G>C
|
rs749236693
|
|
NM_005609.4(PYGM):c.1519-11T>C
|
|
|
NM_005609.4(PYGM):c.1519-13C>G
|
|
|
NM_005609.4(PYGM):c.1519-13C>T
|
|
|
NM_005609.4(PYGM):c.1519-14C>A
|
|
|
NM_005609.4(PYGM):c.1519-5C>T
|
rs1006803617
|
|
NM_005609.4(PYGM):c.1519-5del
|
|
|
NM_005609.4(PYGM):c.1524C>T (p.Ile508=)
|
rs540436223
|
|
NM_005609.4(PYGM):c.1536C>T (p.Phe512=)
|
|
|
NM_005609.4(PYGM):c.1542T>C (p.Ser514=)
|
rs2135831386
|
|
NM_005609.4(PYGM):c.1545C>T (p.Asp515=)
|
|
|
NM_005609.4(PYGM):c.1551C>T (p.Asp517=)
|
|
|
NM_005609.4(PYGM):c.1555C>T (p.Leu519=)
|
rs774694090
|
|
NM_005609.4(PYGM):c.1569C>T (p.Leu523=)
|
rs114138772
|
|
NM_005609.4(PYGM):c.156C>T (p.Tyr52=)
|
|
|
NM_005609.4(PYGM):c.15G>C (p.Leu5=)
|
rs886038565
|
|
NM_005609.4(PYGM):c.1602T>C (p.Asp534=)
|
rs2135831234
|
|
NM_005609.4(PYGM):c.1608C>G (p.Ala536=)
|
|
|
NM_005609.4(PYGM):c.1608C>T (p.Ala536=)
|
rs2058362978
|
|
NM_005609.4(PYGM):c.1614G>A (p.Val538=)
|
rs747854789
|
|
NM_005609.4(PYGM):c.1620+13G>A
|
|
|
NM_005609.4(PYGM):c.1620+16A>G
|
|
|
NM_005609.4(PYGM):c.1620+17T>C
|
|
|
NM_005609.4(PYGM):c.1620+7A>G
|
|
|
NM_005609.4(PYGM):c.1621-15C>T
|
|
|
NM_005609.4(PYGM):c.1621-16C>G
|
|
|
NM_005609.4(PYGM):c.1621-17C>T
|
|
|
NM_005609.4(PYGM):c.1621-18C>G
|
|
|
NM_005609.4(PYGM):c.1621-20T>C
|
|
|
NM_005609.4(PYGM):c.1621-8G>A
|
|
|
NM_005609.4(PYGM):c.1623A>G (p.Glu541=)
|
rs1592409772
|
|
NM_005609.4(PYGM):c.1626C>T (p.Asn542=)
|
|
|
NM_005609.4(PYGM):c.1630T>C (p.Leu544=)
|
rs973893149
|
|
NM_005609.4(PYGM):c.166C>T (p.Leu56=)
|
rs2135842567
|
|
NM_005609.4(PYGM):c.1686A>C (p.Ser562=)
|
|
|
NM_005609.4(PYGM):c.1695C>T (p.Asp565=)
|
rs2058360148
|
|
NM_005609.4(PYGM):c.1719A>G (p.Glu573=)
|
rs2135830648
|
|
NM_005609.4(PYGM):c.1722T>C (p.Tyr574=)
|
|
|
NM_005609.4(PYGM):c.1726C>A (p.Arg576=)
|
|
|
NM_005609.4(PYGM):c.1731G>A (p.Gln577=)
|
|
|
NM_005609.4(PYGM):c.1734C>T (p.Leu578=)
|
|
|
NM_005609.4(PYGM):c.1737C>T (p.Leu579=)
|
|
|
NM_005609.4(PYGM):c.1752C>T (p.Val584=)
|
|
|
NM_005609.4(PYGM):c.1758C>T (p.Thr586=)
|
rs2135830553
|
|
NM_005609.4(PYGM):c.1764C>T (p.Tyr588=)
|
|
|
NM_005609.4(PYGM):c.1768+13C>G
|
|
|
NM_005609.4(PYGM):c.1768+17C>G
|
|
|
NM_005609.4(PYGM):c.1768+19A>G
|
|
|
NM_005609.4(PYGM):c.1768+8_1768+11dup
|
|
|
NM_005609.4(PYGM):c.1769-12G>C
|
|
|
NM_005609.4(PYGM):c.1769-13C>T
|
|
|
NM_005609.4(PYGM):c.1769-16T>C
|
|
|
NM_005609.4(PYGM):c.1769-19C>A
|
|
|
NM_005609.4(PYGM):c.1769-4A>C
|
rs1592409359
|
|
NM_005609.4(PYGM):c.1769-7T>C
|
rs2058357396
|
|
NM_005609.4(PYGM):c.1769-8C>T
|
rs2135830209
|
|
NM_005609.4(PYGM):c.1769-9T>A
|
rs1022322449
|
|
NM_005609.4(PYGM):c.1776G>A (p.Lys592=)
|
|
|
NM_005609.4(PYGM):c.177C>A (p.Thr59=)
|
rs753355735
|
|
NM_005609.4(PYGM):c.177C>T (p.Thr59=)
|
rs753355735
|
|
NM_005609.4(PYGM):c.1788T>C (p.Asn596=)
|
|
|
NM_005609.4(PYGM):c.1791G>A (p.Lys597=)
|
rs1392210978
|
|
NM_005609.4(PYGM):c.1809T>C (p.Thr603=)
|
rs2135830103
|
|
NM_005609.4(PYGM):c.180G>A (p.Val60=)
|
rs1395197579
|
|
NM_005609.4(PYGM):c.1824G>C (p.Gly608=)
|
rs968462901
|
|
NM_005609.4(PYGM):c.1827+10C>T
|
rs1255226594
|
|
NM_005609.4(PYGM):c.1827+13G>C
|
|
|
NM_005609.4(PYGM):c.1827+17C>T
|
|
|
NM_005609.4(PYGM):c.1827+18A>C
|
|
|
NM_005609.4(PYGM):c.1827+20C>T
|
|
|
NM_005609.4(PYGM):c.1827+9C>A
|
|
|
NM_005609.4(PYGM):c.1828-11T>C
|
|
|
NM_005609.4(PYGM):c.1828-11_1828-9del
|
|
|
NM_005609.4(PYGM):c.1828-16G>C
|
|
|
NM_005609.4(PYGM):c.1828-19C>T
|
|
|
NM_005609.4(PYGM):c.1828-5C>A
|
|
|
NM_005609.4(PYGM):c.1828-7C>A
|
|
|
NM_005609.4(PYGM):c.1828-8C>T
|
|
|
NM_005609.4(PYGM):c.1842C>T (p.Tyr614=)
|
|
|
NM_005609.4(PYGM):c.1845C>T (p.His615=)
|
rs552502008
|
|
NM_005609.4(PYGM):c.1863C>T (p.Ile621=)
|
rs1592409104
|
|
NM_005609.4(PYGM):c.1869C>A (p.Leu623=)
|
rs144764922
|
|
NM_005609.4(PYGM):c.1902C>T (p.Asp634=)
|
rs776043985
|
|
NM_005609.4(PYGM):c.1917C>T (p.Asp639=)
|
rs1565533767
|
|
NM_005609.4(PYGM):c.1923C>G (p.Leu641=)
|
|
|
NM_005609.4(PYGM):c.192C>T (p.Leu64=)
|
rs912904130
|
|
NM_005609.4(PYGM):c.1947C>T (p.Tyr649=)
|
|
|
NM_005609.4(PYGM):c.1953C>A (p.Val651=)
|
rs2058354200
|
|
NM_005609.4(PYGM):c.1962C>A (p.Ala654=)
|
rs368964406
|
|
NM_005609.4(PYGM):c.1962C>G (p.Ala654=)
|
rs368964406
|
|
NM_005609.4(PYGM):c.1969+16_1969+17del
|
|
|
NM_005609.4(PYGM):c.1969+20A>G
|
|
|
NM_005609.4(PYGM):c.1969+7G>T
|
|
|
NM_005609.4(PYGM):c.1969+9T>C
|
|
|
NM_005609.4(PYGM):c.1970-19C>T
|
|
|
NM_005609.4(PYGM):c.1970-20C>T
|
|
|
NM_005609.4(PYGM):c.1970-20_1970-5dup
|
rs747398326
|
|
NM_005609.4(PYGM):c.1970-4A>C
|
rs919302363
|
|
NM_005609.4(PYGM):c.1970-5C>G
|
|
|
NM_005609.4(PYGM):c.1970-6C>T
|
|
|
NM_005609.4(PYGM):c.1974C>T (p.Ile658=)
|
|
|
NM_005609.4(PYGM):c.1986C>T (p.Asp662=)
|
rs1592408469
|
|
NM_005609.4(PYGM):c.1992T>C (p.Ser664=)
|
|
|
NM_005609.4(PYGM):c.2001C>T (p.Ile667=)
|
rs2058349107
|
|
NM_005609.4(PYGM):c.2007T>C (p.Thr669=)
|
rs1330878809
|
|
NM_005609.4(PYGM):c.2007T>G (p.Thr669=)
|
rs1330878809
|
|
NM_005609.4(PYGM):c.2028C>A (p.Gly676=)
|
|
|
NM_005609.4(PYGM):c.2031C>A (p.Thr677=)
|
|
|
NM_005609.4(PYGM):c.2043G>A (p.Lys681=)
|
rs2058348408
|
|
NM_005609.4(PYGM):c.2064G>A (p.Leu688=)
|
|
|
NM_005609.4(PYGM):c.2076C>A (p.Thr692=)
|
rs1186035337
|
|
NM_005609.4(PYGM):c.207C>T (p.Ile69=)
|
|
|
NM_005609.4(PYGM):c.2085G>A (p.Gly695=)
|
rs147725917
|
|
NM_005609.4(PYGM):c.2085G>T (p.Gly695=)
|
|
|
NM_005609.4(PYGM):c.2088C>T (p.Ala696=)
|
rs2058347562
|
|
NM_005609.4(PYGM):c.2091T>C (p.Asn697=)
|
rs2135828504
|
|
NM_005609.4(PYGM):c.2094G>A (p.Val698=)
|
|
|
NM_005609.4(PYGM):c.2097G>A (p.Glu699=)
|
rs2058347485
|
|
NM_005609.4(PYGM):c.2118G>A (p.Glu706=)
|
rs2135828438
|
|
NM_005609.4(PYGM):c.2127C>T (p.Phe709=)
|
|
|
NM_005609.4(PYGM):c.2133C>T (p.Ile711=)
|
|
|
NM_005609.4(PYGM):c.213G>T (p.Thr71=)
|
|
|
NM_005609.4(PYGM):c.2151G>A (p.Glu717=)
|
|
|
NM_005609.4(PYGM):c.2163G>A (p.Lys721=)
|
rs2058346455
|
|
NM_005609.4(PYGM):c.216G>A (p.Gln72=)
|
|
|
NM_005609.4(PYGM):c.2177+11C>G
|
|
|
NM_005609.4(PYGM):c.2177+15G>A
|
|
|
NM_005609.4(PYGM):c.2177+20C>T
|
|
|
NM_005609.4(PYGM):c.2177+9G>A
|
rs1592408105
|
|
NM_005609.4(PYGM):c.2178-12dup
|
|
|
NM_005609.4(PYGM):c.2178-16A>T
|
|
|
NM_005609.4(PYGM):c.2178-4del
|
|
|
NM_005609.4(PYGM):c.2178-8C>T
|
|
|
NM_005609.4(PYGM):c.2184T>C (p.Asn728=)
|
rs1009359544
|
|
NM_005609.4(PYGM):c.2187C>T (p.Ala729=)
|
|
|
NM_005609.4(PYGM):c.2190G>A (p.Gln730=)
|
|
|
NM_005609.4(PYGM):c.2214G>A (p.Glu738=)
|
rs772707447
|
|
NM_005609.4(PYGM):c.2220G>A (p.Arg740=)
|
|
|
NM_005609.4(PYGM):c.2229T>C (p.Ile743=)
|
rs1592405688
|
|
NM_005609.4(PYGM):c.2238G>A (p.Leu746=)
|
|
|
NM_005609.4(PYGM):c.2244T>C (p.Ser748=)
|
|
|
NM_005609.4(PYGM):c.2253C>T (p.Phe751=)
|
rs1565531467
|
|
NM_005609.4(PYGM):c.2259C>A (p.Pro753=)
|
rs747072799
|
|
NM_005609.4(PYGM):c.2259C>G (p.Pro753=)
|
|
|
NM_005609.4(PYGM):c.2272C>T (p.Leu758=)
|
rs2135824043
|
|
NM_005609.4(PYGM):c.2274G>T (p.Leu758=)
|
rs765011069
|
|
NM_005609.4(PYGM):c.2280G>A (p.Lys760=)
|
|
|
NM_005609.4(PYGM):c.2289C>T (p.Val763=)
|
|
|
NM_005609.4(PYGM):c.2292T>C (p.Asn764=)
|
rs1592405461
|
|
NM_005609.4(PYGM):c.2307T>C (p.His769=)
|
|
|
NM_005609.4(PYGM):c.2312+10T>G
|
rs1173087362
|
|
NM_005609.4(PYGM):c.2312+13_2312+50del
|
rs1555133408
|
|
NM_005609.4(PYGM):c.2312+15C>T
|
|
|
NM_005609.4(PYGM):c.2312+16del
|
|
|
NM_005609.4(PYGM):c.2312+17G>A
|
|
|
NM_005609.4(PYGM):c.2312+19G>A
|
|
|
NM_005609.4(PYGM):c.2312+19del
|
|
|
NM_005609.4(PYGM):c.2312+8G>C
|
|
|
NM_005609.4(PYGM):c.2312+9G>C
|
|
|
NM_005609.4(PYGM):c.2313-13C>T
|
|
|
NM_005609.4(PYGM):c.2313-16A>C
|
|
|
NM_005609.4(PYGM):c.2313-7C>T
|
rs768815722
|
|
NM_005609.4(PYGM):c.2313-8C>T
|
rs865978483
|
|
NM_005609.4(PYGM):c.2322C>A (p.Val774=)
|
|
|
NM_005609.4(PYGM):c.2331T>C (p.Asp777=)
|
rs2135823373
|
|
NM_005609.4(PYGM):c.2334T>C (p.Tyr778=)
|
rs2135823364
|
|
NM_005609.4(PYGM):c.2343C>T (p.Tyr781=)
|
|
|
NM_005609.4(PYGM):c.2355G>A (p.Gln785=)
|
rs1592405031
|
|
NM_005609.4(PYGM):c.2358G>A (p.Glu786=)
|
rs1467645013
|
|
NM_005609.4(PYGM):c.2361A>G (p.Lys787=)
|
rs2135823301
|
|
NM_005609.4(PYGM):c.2370C>T (p.Ala790=)
|
|
|
NM_005609.4(PYGM):c.2371T>C (p.Leu791=)
|
|
|
NM_005609.4(PYGM):c.2376C>T (p.Tyr792=)
|
|
|
NM_005609.4(PYGM):c.2379+10C>A
|
rs2135823178
|
|
NM_005609.4(PYGM):c.2379+11C>A
|
|
|
NM_005609.4(PYGM):c.2379+11C>T
|
|
|
NM_005609.4(PYGM):c.2380-11T>G
|
|
|
NM_005609.4(PYGM):c.2380-14C>T
|
|
|
NM_005609.4(PYGM):c.2380-15C>G
|
|
|
NM_005609.4(PYGM):c.2380-16T>C
|
|
|
NM_005609.4(PYGM):c.2380-6C>T
|
rs2135822859
|
|
NM_005609.4(PYGM):c.2380-7C>T
|
|
|
NM_005609.4(PYGM):c.2380-8A>G
|
|
|
NM_005609.4(PYGM):c.2385A>C (p.Pro795=)
|
rs2135822804
|
|
NM_005609.4(PYGM):c.2398C>A (p.Arg800=)
|
|
|
NM_005609.4(PYGM):c.2412G>C (p.Arg804=)
|
rs199927544
|
|
NM_005609.4(PYGM):c.2421C>G (p.Ala807=)
|
|
|
NM_005609.4(PYGM):c.243+13A>C
|
|
|
NM_005609.4(PYGM):c.243+14G>A
|
|
|
NM_005609.4(PYGM):c.243+14G>T
|
|
|
NM_005609.4(PYGM):c.243+16C>T
|
|
|
NM_005609.4(PYGM):c.243+18G>C
|
|
|
NM_005609.4(PYGM):c.243+8T>C
|
|
|
NM_005609.4(PYGM):c.2433G>A (p.Lys811=)
|
|
|
NM_005609.4(PYGM):c.244-14G>A
|
|
|
NM_005609.4(PYGM):c.244-15C>T
|
|
|
NM_005609.4(PYGM):c.244-18A>G
|
|
|
NM_005609.4(PYGM):c.244-20C>G
|
|
|
NM_005609.4(PYGM):c.244-310_244-309insGGGCCTTGGCCTTGCCCTCCTGGGGAGCTCTTGGAGGCGCTTCCACATGTCCTGGCATCCTGCTGGGCTGTGCGG
|
rs60191633
|
|
NM_005609.4(PYGM):c.244-4G>A
|
rs2135840983
|
|
NM_005609.4(PYGM):c.244-5G>C
|
|
|
NM_005609.4(PYGM):c.244-9T>C
|
|
|
NM_005609.4(PYGM):c.2445C>T (p.Asp815=)
|
|
|
NM_005609.4(PYGM):c.2448C>A (p.Arg816=)
|
rs1225428523
|
|
NM_005609.4(PYGM):c.2457C>G (p.Ala819=)
|
rs1592404476
|
|
NM_005609.4(PYGM):c.2457C>T (p.Ala819=)
|
|
|
NM_005609.4(PYGM):c.2460G>A (p.Gln820=)
|
|
|
NM_005609.4(PYGM):c.2469G>A (p.Arg823=)
|
|
|
NM_005609.4(PYGM):c.2487G>A (p.Glu829=)
|
rs1199818497
|
|
NM_005609.4(PYGM):c.2490T>C (p.Pro830=)
|
|
|
NM_005609.4(PYGM):c.2493C>T (p.Ser831=)
|
rs1255956938
|
|
NM_005609.4(PYGM):c.2496C>T (p.Arg832=)
|
|
|
NM_005609.4(PYGM):c.27G>A (p.Glu9=)
|
rs2135842913
|
|
NM_005609.4(PYGM):c.286C>T (p.Leu96=)
|
rs2135840874
|
|
NM_005609.4(PYGM):c.297C>T (p.Thr99=)
|
|
|
NM_005609.4(PYGM):c.306C>T (p.Asn102=)
|
rs2135840838
|
|
NM_005609.4(PYGM):c.321T>C (p.Asn107=)
|
|
|
NM_005609.4(PYGM):c.324C>T (p.Ala108=)
|
rs2135840802
|
|
NM_005609.4(PYGM):c.333G>A (p.Glu111=)
|
|
|
NM_005609.4(PYGM):c.345+11G>A
|
rs760751053
|
|
NM_005609.4(PYGM):c.345+12G>A
|
|
|
NM_005609.4(PYGM):c.345+12G>T
|
|
|
NM_005609.4(PYGM):c.345+14G>A
|
|
|
NM_005609.4(PYGM):c.345+17G>C
|
|
|
NM_005609.4(PYGM):c.345+18C>T
|
|
|
NM_005609.4(PYGM):c.345+20A>T
|
|
|
NM_005609.4(PYGM):c.345+2TG[3]
|
|
|
NM_005609.4(PYGM):c.345+7G>A
|
rs1730757719
|
|
NM_005609.4(PYGM):c.345+9G>A
|
rs1370814699
|
|
NM_005609.4(PYGM):c.346-11C>T
|
|
|
NM_005609.4(PYGM):c.346-12T>C
|
|
|
NM_005609.4(PYGM):c.346-13C>T
|
|
|
NM_005609.4(PYGM):c.346-16A>G
|
|
|
NM_005609.4(PYGM):c.346-19G>A
|
|
|
NM_005609.4(PYGM):c.346-4C>T
|
rs2135840541
|
|
NM_005609.4(PYGM):c.346-5T>C
|
rs1016613332
|
|
NM_005609.4(PYGM):c.346-5T>G
|
|
|
NM_005609.4(PYGM):c.348G>A (p.Leu116=)
|
rs1341899522
|
|
NM_005609.4(PYGM):c.354G>C (p.Leu118=)
|
|
|
NM_005609.4(PYGM):c.357C>T (p.Asp119=)
|
|
|
NM_005609.4(PYGM):c.369G>A (p.Leu123=)
|
|
|
NM_005609.4(PYGM):c.384G>A (p.Glu128=)
|
rs1437348857
|
|
NM_005609.4(PYGM):c.396G>C (p.Leu132=)
|
|
|
NM_005609.4(PYGM):c.405G>A (p.Gly135=)
|
|
|
NM_005609.4(PYGM):c.405G>T (p.Gly135=)
|
|
|
NM_005609.4(PYGM):c.409C>T (p.Leu137=)
|
|
|
NM_005609.4(PYGM):c.414C>A (p.Gly138=)
|
rs757263362
|
|
NM_005609.4(PYGM):c.414C>T (p.Gly138=)
|
|
|
NM_005609.4(PYGM):c.417G>T (p.Arg139=)
|
rs1247168884
|
|
NM_005609.4(PYGM):c.418C>T (p.Leu140=)
|
rs2135840331
|
|
NM_005609.4(PYGM):c.420G>A (p.Leu140=)
|
|
|
NM_005609.4(PYGM):c.424+12G>C
|
|
|
NM_005609.4(PYGM):c.424+7A>C
|
rs759436324
|
|
NM_005609.4(PYGM):c.424+8G>A
|
|
|
NM_005609.4(PYGM):c.424+8G>C
|
rs2135840303
|
|
NM_005609.4(PYGM):c.424+9_424+12del
|
rs1393111280
|
|
NM_005609.4(PYGM):c.425-10A>G
|
rs2135840188
|
|
NM_005609.4(PYGM):c.425-18C>A
|
|
|
NM_005609.4(PYGM):c.425-18C>T
|
|
|
NM_005609.4(PYGM):c.425-4C>T
|
|
|
NM_005609.4(PYGM):c.425-5C>A
|
|
|
NM_005609.4(PYGM):c.425-5C>T
|
|
|
NM_005609.4(PYGM):c.425-6C>T
|
|
|
NM_005609.4(PYGM):c.438C>T (p.Asp146=)
|
|
|
NM_005609.4(PYGM):c.456C>G (p.Gly152=)
|
|
|
NM_005609.4(PYGM):c.459G>C (p.Leu153=)
|
rs775811645
|
|
NM_005609.4(PYGM):c.45T>C (p.Ser15=)
|
rs2135842875
|
|
NM_005609.4(PYGM):c.462C>T (p.Ala154=)
|
rs1410374422
|
|
NM_005609.4(PYGM):c.465C>T (p.Ala155=)
|
rs2058407860
|
|
NM_005609.4(PYGM):c.495G>C (p.Gly165=)
|
|
|
NM_005609.4(PYGM):c.504C>T (p.Asn168=)
|
rs2135840016
|
|
NM_005609.4(PYGM):c.510G>A (p.Lys170=)
|
rs1214431808
|
|
NM_005609.4(PYGM):c.513C>T (p.Ile171=)
|
rs2135839977
|
|
NM_005609.4(PYGM):c.517G>A (p.Gly173Arg)
|
rs141265458
|
|
NM_005609.4(PYGM):c.522C>T (p.Gly174=)
|
|
|
NM_005609.4(PYGM):c.528+13G>A
|
|
|
NM_005609.4(PYGM):c.528+4AGC[3]
|
rs2135839913
|
|
NM_005609.4(PYGM):c.528+9C>A
|
|
|
NM_005609.4(PYGM):c.529-12C>T
|
|
|
NM_005609.4(PYGM):c.529-13_529-10del
|
|
|
NM_005609.4(PYGM):c.529-15C>G
|
|
|
NM_005609.4(PYGM):c.529-18G>C
|
|
|
NM_005609.4(PYGM):c.537G>A (p.Glu179=)
|
rs886048462
|
|
NM_005609.4(PYGM):c.55C>T (p.Leu19=)
|
|
|
NM_005609.4(PYGM):c.564C>T (p.Asn188=)
|
rs604595
|
|
NM_005609.4(PYGM):c.579C>T (p.Ala193=)
|
|
|
NM_005609.4(PYGM):c.582G>T (p.Arg194=)
|
rs2135839278
|
|
NM_005609.4(PYGM):c.600T>A (p.Pro200=)
|
rs2135839246
|
|
NM_005609.4(PYGM):c.609C>T (p.Phe203=)
|
|
|
NM_005609.4(PYGM):c.60C>A (p.Ala20=)
|
|
|
NM_005609.4(PYGM):c.615C>T (p.Gly205=)
|
|
|
NM_005609.4(PYGM):c.624G>A (p.Glu208=)
|
|
|
NM_005609.4(PYGM):c.627C>T (p.His209=)
|
rs2135839184
|
|
NM_005609.4(PYGM):c.630C>T (p.Thr210=)
|
rs115141783
|
|
NM_005609.4(PYGM):c.633C>T (p.Ser211=)
|
rs757861426
|
|
NM_005609.4(PYGM):c.642C>T (p.Ala214=)
|
|
|
NM_005609.4(PYGM):c.651G>T (p.Val217=)
|
|
|
NM_005609.4(PYGM):c.660+13_660+15del
|
rs760532304
|
|
NM_005609.4(PYGM):c.660+17G>A
|
|
|
NM_005609.4(PYGM):c.660+18G>C
|
|
|
NM_005609.4(PYGM):c.660+18G>T
|
|
|
NM_005609.4(PYGM):c.660+9G>A
|
rs2135839093
|
|
NM_005609.4(PYGM):c.661-10C>G
|
rs759810824
|
|
NM_005609.4(PYGM):c.661-4G>C
|
|
|
NM_005609.4(PYGM):c.661-5C>T
|
rs75633423
|
|
NM_005609.4(PYGM):c.661-7C>A
|
rs2135836733
|
|
NM_005609.4(PYGM):c.661-9C>T
|
rs776779910
|
|
NM_005609.4(PYGM):c.667C>T (p.Leu223=)
|
|
|
NM_005609.4(PYGM):c.678C>T (p.Pro226=)
|
|
|
NM_005609.4(PYGM):c.687G>C (p.Thr229=)
|
rs764624576
|
|
NM_005609.4(PYGM):c.687G>T (p.Thr229=)
|
|
|
NM_005609.4(PYGM):c.690C>T (p.Pro230=)
|
rs946190237
|
|
NM_005609.4(PYGM):c.693G>A (p.Val231=)
|
|
|
NM_005609.4(PYGM):c.699C>T (p.Gly233=)
|
rs2135836588
|
|
NM_005609.4(PYGM):c.708C>T (p.Asn236=)
|
rs2135836560
|
|
NM_005609.4(PYGM):c.729C>A (p.Arg243=)
|
rs151160016
|
|
NM_005609.4(PYGM):c.732C>G (p.Leu244=)
|
rs542897023
|
|
NM_005609.4(PYGM):c.741C>T (p.Ala247=)
|
rs1259011777
|
|
NM_005609.4(PYGM):c.744G>A (p.Lys248=)
|
rs1325452379
|
|
NM_005609.4(PYGM):c.750C>G (p.Pro250=)
|
|
|
NM_005609.4(PYGM):c.75G>A (p.Val25=)
|
|
|
NM_005609.4(PYGM):c.768G>A (p.Lys256=)
|
|
|
NM_005609.4(PYGM):c.772+10T>C
|
|
|
NM_005609.4(PYGM):c.772+14C>T
|
|
|
NM_005609.4(PYGM):c.772+16G>A
|
|
|
NM_005609.4(PYGM):c.772+18T>G
|
rs2135836360
|
|
NM_005609.4(PYGM):c.772+8C>G
|
|
|
NM_005609.4(PYGM):c.773-5C>G
|
|
|
NM_005609.4(PYGM):c.773-5C>T
|
rs748541324
|
|
NM_005609.4(PYGM):c.773-6C>G
|
|
|
NM_005609.4(PYGM):c.773-9G>A
|
|
|
NM_005609.4(PYGM):c.777T>C (p.Asn259=)
|
rs1357492907
|
|
NM_005609.4(PYGM):c.783T>G (p.Gly261=)
|
|
|
NM_005609.4(PYGM):c.801G>A (p.Val267=)
|
|
|
NM_005609.4(PYGM):c.802T>C (p.Leu268=)
|
rs750576348
|
|
NM_005609.4(PYGM):c.814C>T (p.Leu272=)
|
|
|
NM_005609.4(PYGM):c.816G>A (p.Leu272=)
|
rs2135836180
|
|
NM_005609.4(PYGM):c.819G>A (p.Ala273=)
|
rs763918119
|
|
NM_005609.4(PYGM):c.828C>T (p.Ile276=)
|
rs1198004865
|
|
NM_005609.4(PYGM):c.82C>T (p.Leu28=)
|
|
|
NM_005609.4(PYGM):c.840G>C (p.Leu280=)
|
rs2135836148
|
|
NM_005609.4(PYGM):c.849T>C (p.Asn283=)
|
rs1592413061
|
|
NM_005609.4(PYGM):c.852T>C (p.Asp284=)
|
|
|
NM_005609.4(PYGM):c.855+10C>A
|
rs780270624
|
|
NM_005609.4(PYGM):c.855+14T>G
|
|
|
NM_005609.4(PYGM):c.855+15G>A
|
|
|
NM_005609.4(PYGM):c.855+19T>G
|
|
|
NM_005609.4(PYGM):c.855+20G>A
|
|
|
NM_005609.4(PYGM):c.855+7C>A
|
rs2135836112
|
|
NM_005609.4(PYGM):c.855+7C>T
|
rs2135836112
|
|
NM_005609.4(PYGM):c.855+8A>G
|
rs2135836107
|
|
NM_005609.4(PYGM):c.855+9C>A
|
|
|
NM_005609.4(PYGM):c.855+9C>T
|
|
|
NM_005609.4(PYGM):c.856-12T>C
|
rs2135835596
|
|
NM_005609.4(PYGM):c.856-17C>A
|
|
|
NM_005609.4(PYGM):c.856-6C>A
|
|
|
NM_005609.4(PYGM):c.856-8G>C
|
rs759072956
|
|
NM_005609.4(PYGM):c.856-9T>C
|
|
|
NM_005609.4(PYGM):c.864A>G (p.Glu288=)
|
rs2135835559
|
|
NM_005609.4(PYGM):c.873G>A (p.Glu291=)
|
|
|
NM_005609.4(PYGM):c.880C>T (p.Leu294=)
|
|
|
NM_005609.4(PYGM):c.882G>A (p.Leu294=)
|
|
|
NM_005609.4(PYGM):c.936C>T (p.Phe312=)
|
|
|
NM_005609.4(PYGM):c.945C>G (p.Ser315=)
|
rs2135835417
|
|
NM_005609.4(PYGM):c.945C>T (p.Ser315=)
|
|
|
NM_005609.4(PYGM):c.966C>T (p.Pro322=)
|
rs377041639
|
|
NM_005609.4(PYGM):c.96C>T (p.Phe32=)
|
|
|
NM_005609.4(PYGM):c.978C>T (p.Asn326=)
|
|
|
NM_005609.4(PYGM):c.987C>G (p.Ala329=)
|
rs1565536189
|
|
NM_005609.4(PYGM):c.990C>T (p.Phe330=)
|
rs2135835271
|
|
NM_005609.4(PYGM):c.993A>C (p.Pro331=)
|
rs748361251
|
|
NM_005609.4(PYGM):c.993A>G (p.Pro331=)
|
|
|
NM_005609.4(PYGM):c.999+10G>T
|
|
|
NM_005609.4(PYGM):c.999+16A>T
|
|
|
NM_005609.4(PYGM):c.999+18G>T
|
|
|
NM_005609.4(PYGM):c.999+7T>C
|
rs1565536175
|
|
NM_005609.4(PYGM):c.999+8G>A
|
|
|
NM_005609.4(PYGM):c.999+9C>A
|
rs183026465
|
|
NM_005609.4(PYGM):c.999+9C>G
|
|
|
NM_005609.4(PYGM):c.999+9C>T
|
rs183026465
|
|
NM_005908.4(MANBA):c.1002A>G (p.Lys334=)
|
|
|
NM_005908.4(MANBA):c.102G>A (p.Gly34=)
|
|
|
NM_005908.4(MANBA):c.102G>C (p.Gly34=)
|
|
|
NM_005908.4(MANBA):c.1047C>T (p.Pro349=)
|
|
|
NM_005908.4(MANBA):c.1086A>G (p.Ser362=)
|
|
|
NM_005908.4(MANBA):c.1098A>G (p.Arg366=)
|
|
|
NM_005908.4(MANBA):c.1107T>G (p.Ser369=)
|
|
|
NM_005908.4(MANBA):c.1112+10T>C
|
|
|
NM_005908.4(MANBA):c.1112+13C>T
|
|
|
NM_005908.4(MANBA):c.1112+17C>A
|
|
|
NM_005908.4(MANBA):c.1113-17T>C
|
|
|
NM_005908.4(MANBA):c.1113-6C>T
|
|
|
NM_005908.4(MANBA):c.1116A>G (p.Leu372=)
|
|
|
NM_005908.4(MANBA):c.1119G>T (p.Arg373=)
|
|
|
NM_005908.4(MANBA):c.1128A>G (p.Leu376=)
|
|
|
NM_005908.4(MANBA):c.1134T>A (p.Ser378=)
|
|
|
NM_005908.4(MANBA):c.1140G>A (p.Val380=)
|
|
|
NM_005908.4(MANBA):c.1143T>C (p.Asp381=)
|
|
|
NM_005908.4(MANBA):c.1149T>C (p.Asn383=)
|
|
|
NM_005908.4(MANBA):c.1164G>A (p.Arg388=)
|
|
|
NM_005908.4(MANBA):c.1164G>C (p.Arg388=)
|
|
|
NM_005908.4(MANBA):c.1173A>G (p.Gly391=)
|
|
|
NM_005908.4(MANBA):c.1176A>C (p.Gly392=)
|
|
|
NM_005908.4(MANBA):c.1188G>A (p.Glu396=)
|
|
|
NM_005908.4(MANBA):c.120G>A (p.Leu40=)
|
|
|
NM_005908.4(MANBA):c.1230+13T>C
|
|
|
NM_005908.4(MANBA):c.1230+14A>G
|
|
|
NM_005908.4(MANBA):c.1230+15G>A
|
|
|
NM_005908.4(MANBA):c.1230+17A>G
|
|
|
NM_005908.4(MANBA):c.1230+9T>A
|
|
|
NM_005908.4(MANBA):c.1231-14A>G
|
|
|
NM_005908.4(MANBA):c.1231-16T>G
|
|
|
NM_005908.4(MANBA):c.1231-16_1231-15del
|
|
|
NM_005908.4(MANBA):c.1231-20C>G
|
|
|
NM_005908.4(MANBA):c.1231-6T>G
|
|
|
NM_005908.4(MANBA):c.1239G>A (p.Gln413=)
|
|
|
NM_005908.4(MANBA):c.1257T>C (p.Cys419=)
|
|
|
NM_005908.4(MANBA):c.126G>A (p.Gly42=)
|
|
|
NM_005908.4(MANBA):c.1293A>G (p.Ser431=)
|
|
|
NM_005908.4(MANBA):c.1311C>T (p.Ala437=)
|
|
|
NM_005908.4(MANBA):c.1317+12C>A
|
|
|
NM_005908.4(MANBA):c.1317+17C>T
|
|
|
NM_005908.4(MANBA):c.1318-13T>C
|
|
|
NM_005908.4(MANBA):c.1318-19_1318-18del
|
|
|
NM_005908.4(MANBA):c.1318-9A>C
|
|
|
NM_005908.4(MANBA):c.132C>T (p.Val44=)
|
|
|
NM_005908.4(MANBA):c.135T>G (p.Pro45=)
|
|
|
NM_005908.4(MANBA):c.1383G>A (p.Ala461=)
|
|
|
NM_005908.4(MANBA):c.1384C>T (p.Leu462=)
|
|
|
NM_005908.4(MANBA):c.1395T>C (p.Asn465=)
|
|
|
NM_005908.4(MANBA):c.13C>T (p.Leu5=)
|
|
|
NM_005908.4(MANBA):c.1413C>T (p.Phe471=)
|
|
|
NM_005908.4(MANBA):c.1428C>A (p.Ile476=)
|
|
|
NM_005908.4(MANBA):c.1443T>C (p.Tyr481=)
|
|
|
NM_005908.4(MANBA):c.1446G>A (p.Val482=)
|
|
|
NM_005908.4(MANBA):c.1473G>A (p.Glu491=)
|
|
|
NM_005908.4(MANBA):c.1480C>T (p.Leu494=)
|
|
|
NM_005908.4(MANBA):c.1485+18A>G
|
|
|
NM_005908.4(MANBA):c.1485+9T>A
|
rs199592616
|
|
NM_005908.4(MANBA):c.1486-13T>C
|
|
|
NM_005908.4(MANBA):c.1486-15T>C
|
|
|
NM_005908.4(MANBA):c.1545A>G (p.Ala515=)
|
|
|
NM_005908.4(MANBA):c.1551C>G (p.Ala517=)
|
|
|
NM_005908.4(MANBA):c.1551C>T (p.Ala517=)
|
|
|
NM_005908.4(MANBA):c.1557C>G (p.Val519=)
|
rs958430573
|
|
NM_005908.4(MANBA):c.1557C>T (p.Val519=)
|
|
|
NM_005908.4(MANBA):c.1563A>G (p.Gln521=)
|
|
|
NM_005908.4(MANBA):c.1575C>T (p.Ser525=)
|
|
|
NM_005908.4(MANBA):c.1581T>C (p.Tyr527=)
|
|
|
NM_005908.4(MANBA):c.1584T>C (p.Phe528=)
|
|
|
NM_005908.4(MANBA):c.1593A>G (p.Val531=)
|
|
|
NM_005908.4(MANBA):c.15G>A (p.Leu5=)
|
|
|
NM_005908.4(MANBA):c.15G>C (p.Leu5=)
|
|
|
NM_005908.4(MANBA):c.1605C>T (p.Asp535=)
|
|
|
NM_005908.4(MANBA):c.162G>A (p.Gln54=)
|
|
|
NM_005908.4(MANBA):c.1638C>T (p.Phe546=)
|
|
|
NM_005908.4(MANBA):c.1653T>C (p.Phe551=)
|
|
|
NM_005908.4(MANBA):c.1668A>G (p.Gly556=)
|
|
|
NM_005908.4(MANBA):c.1683G>A (p.Pro561=)
|
|
|
NM_005908.4(MANBA):c.1686C>T (p.Ser562=)
|
|
|
NM_005908.4(MANBA):c.1689C>T (p.Phe563=)
|
|
|
NM_005908.4(MANBA):c.1695A>G (p.Thr565=)
|
|
|
NM_005908.4(MANBA):c.169C>T (p.Leu57=)
|
|
|
NM_005908.4(MANBA):c.1704+11G>A
|
|
|
NM_005908.4(MANBA):c.1704+12T>A
|
|
|
NM_005908.4(MANBA):c.1705-14T>C
|
|
|
NM_005908.4(MANBA):c.1705-17T>C
|
|
|
NM_005908.4(MANBA):c.1710G>A (p.Ser570=)
|
|
|
NM_005908.4(MANBA):c.1734T>C (p.Asn578=)
|
|
|
NM_005908.4(MANBA):c.1737C>T (p.Ser579=)
|
|
|
NM_005908.4(MANBA):c.1764C>T (p.His588=)
|
|
|
NM_005908.4(MANBA):c.177+12G>C
|
|
|
NM_005908.4(MANBA):c.177+14C>A
|
|
|
NM_005908.4(MANBA):c.177+18C>T
|
|
|
NM_005908.4(MANBA):c.177+19C>A
|
|
|
NM_005908.4(MANBA):c.177+19C>G
|
|
|
NM_005908.4(MANBA):c.177+20C>T
|
|
|
NM_005908.4(MANBA):c.177+7C>A
|
|
|
NM_005908.4(MANBA):c.177+7C>G
|
|
|
NM_005908.4(MANBA):c.178-12T>C
|
|
|
NM_005908.4(MANBA):c.178-15A>G
|
|
|
NM_005908.4(MANBA):c.1794G>A (p.Gln598=)
|
|
|
NM_005908.4(MANBA):c.1800A>G (p.Gly600=)
|
|
|
NM_005908.4(MANBA):c.1827A>G (p.Thr609=)
|
|
|
NM_005908.4(MANBA):c.1839C>T (p.Arg613=)
|
|
|
NM_005908.4(MANBA):c.1851T>C (p.Asp617=)
|
rs2110203050
|
|
NM_005908.4(MANBA):c.1854C>T (p.Thr618=)
|
|
|
NM_005908.4(MANBA):c.1869+17C>A
|
|
|
NM_005908.4(MANBA):c.1869+20G>A
|
|
|
NM_005908.4(MANBA):c.1869+8G>A
|
|
|
NM_005908.4(MANBA):c.1870-16T>C
|
|
|
NM_005908.4(MANBA):c.1870-5A>T
|
|
|
NM_005908.4(MANBA):c.1872G>A (p.Val624=)
|
|
|
NM_005908.4(MANBA):c.1878G>A (p.Gln626=)
|
|
|
NM_005908.4(MANBA):c.1881C>G (p.Ala627=)
|
|
|
NM_005908.4(MANBA):c.1905A>G (p.Glu635=)
|
|
|
NM_005908.4(MANBA):c.1917T>C (p.Arg639=)
|
|
|
NM_005908.4(MANBA):c.1920T>C (p.Ser640=)
|
|
|
NM_005908.4(MANBA):c.1926C>T (p.Ser642=)
|
|
|
NM_005908.4(MANBA):c.1944A>G (p.Gln648=)
|
|
|
NM_005908.4(MANBA):c.1947G>A (p.Gly649=)
|
|
|
NM_005908.4(MANBA):c.1953G>A (p.Thr651=)
|
rs886058968
|
|
NM_005908.4(MANBA):c.1959G>A (p.Gly653=)
|
|
|
NM_005908.4(MANBA):c.1959G>C (p.Gly653=)
|
|
|
NM_005908.4(MANBA):c.1962A>G (p.Ala654=)
|
|
|
NM_005908.4(MANBA):c.1992A>G (p.Gln664=)
|
|
|
NM_005908.4(MANBA):c.2014+8T>C
|
|
|
NM_005908.4(MANBA):c.2015-11del
|
|
|
NM_005908.4(MANBA):c.2015-12G>T
|
|
|
NM_005908.4(MANBA):c.2015-16T>G
|
|
|
NM_005908.4(MANBA):c.2015-7T>C
|
|
|
NM_005908.4(MANBA):c.2046C>T (p.Tyr682=)
|
|
|
NM_005908.4(MANBA):c.2070A>G (p.Pro690=)
|
|
|
NM_005908.4(MANBA):c.2079A>G (p.Pro693=)
|
|
|
NM_005908.4(MANBA):c.2100C>T (p.Asn700=)
|
|
|
NM_005908.4(MANBA):c.2103G>A (p.Thr701=)
|
|
|
NM_005908.4(MANBA):c.2103G>T (p.Thr701=)
|
|
|
NM_005908.4(MANBA):c.210C>T (p.Tyr70=)
|
|
|
NM_005908.4(MANBA):c.2145G>A (p.Ser715=)
|
|
|
NM_005908.4(MANBA):c.2154C>G (p.Leu718=)
|
|
|
NM_005908.4(MANBA):c.2157+12G>A
|
|
|
NM_005908.4(MANBA):c.2157+17G>C
|
|
|
NM_005908.4(MANBA):c.2157+19T>A
|
|
|
NM_005908.4(MANBA):c.2157+8A>G
|
|
|
NM_005908.4(MANBA):c.2157+9C>T
|
|
|
NM_005908.4(MANBA):c.2158-10T>G
|
|
|
NM_005908.4(MANBA):c.2158-14T>G
|
|
|
NM_005908.4(MANBA):c.2158-17G>A
|
|
|
NM_005908.4(MANBA):c.2158-5C>T
|
|
|
NM_005908.4(MANBA):c.2158-6C>G
|
|
|
NM_005908.4(MANBA):c.2158-6C>T
|
|
|
NM_005908.4(MANBA):c.2158-7T>A
|
|
|
NM_005908.4(MANBA):c.2158-9T>A
|
|
|
NM_005908.4(MANBA):c.2160G>A (p.Val720=)
|
|
|
NM_005908.4(MANBA):c.2178C>T (p.Ser726=)
|
|
|
NM_005908.4(MANBA):c.2181C>G (p.Ser727=)
|
|
|
NM_005908.4(MANBA):c.2190C>T (p.Pro730=)
|
|
|
NM_005908.4(MANBA):c.2193G>A (p.Val731=)
|
|
|
NM_005908.4(MANBA):c.2229A>C (p.Gly743=)
|
|
|
NM_005908.4(MANBA):c.2229A>T (p.Gly743=)
|
|
|
NM_005908.4(MANBA):c.2232A>C (p.Gly744=)
|
|
|
NM_005908.4(MANBA):c.2241C>T (p.Val747=)
|
|
|
NM_005908.4(MANBA):c.2244C>T (p.Cys748=)
|
|
|
NM_005908.4(MANBA):c.2247T>C (p.Leu749=)
|
|
|
NM_005908.4(MANBA):c.2253G>A (p.Glu751=)
|
|
|
NM_005908.4(MANBA):c.225G>A (p.Leu75=)
|
|
|
NM_005908.4(MANBA):c.2265T>C (p.Ser755=)
|
|
|
NM_005908.4(MANBA):c.2269T>C (p.Leu757=)
|
rs774068992
|
|
NM_005908.4(MANBA):c.2296C>A (p.Arg766=)
|
|
|
NM_005908.4(MANBA):c.2298G>A (p.Arg766=)
|
|
|
NM_005908.4(MANBA):c.2310G>A (p.Val770=)
|
|
|
NM_005908.4(MANBA):c.2316C>G (p.Ser772=)
|
|
|
NM_005908.4(MANBA):c.2334C>T (p.Asp778=)
|
|
|
NM_005908.4(MANBA):c.2352G>A (p.Pro784=)
|
|
|
NM_005908.4(MANBA):c.2352G>T (p.Pro784=)
|
|
|
NM_005908.4(MANBA):c.2355C>T (p.Thr785=)
|
|
|
NM_005908.4(MANBA):c.2358C>T (p.Asn786=)
|
rs767182713
|
|
NM_005908.4(MANBA):c.2388C>T (p.Ala796=)
|
|
|
NM_005908.4(MANBA):c.2403G>A (p.Lys801=)
|
|
|
NM_005908.4(MANBA):c.2406G>A (p.Ala802=)
|
rs758859697
|
|
NM_005908.4(MANBA):c.2415+11G>A
|
|
|
NM_005908.4(MANBA):c.2415+11_2415+17dup
|
|
|
NM_005908.4(MANBA):c.2415+14A>T
|
|
|
NM_005908.4(MANBA):c.2415+15T>C
|
|
|
NM_005908.4(MANBA):c.2415+18C>T
|
|
|
NM_005908.4(MANBA):c.2416-19T>C
|
|
|
NM_005908.4(MANBA):c.2416-22_2416-18del
|
rs2110185741
|
|
NM_005908.4(MANBA):c.2416-4T>C
|
|
|
NM_005908.4(MANBA):c.2433A>G (p.Gln811=)
|
|
|
NM_005908.4(MANBA):c.243C>T (p.Ser81=)
|
|
|
NM_005908.4(MANBA):c.2472C>A (p.Val824=)
|
|
|
NM_005908.4(MANBA):c.2472C>G (p.Val824=)
|
|
|
NM_005908.4(MANBA):c.2472C>T (p.Val824=)
|
|
|
NM_005908.4(MANBA):c.2488T>C (p.Leu830=)
|
|
|
NM_005908.4(MANBA):c.249A>G (p.Glu83=)
|
|
|
NM_005908.4(MANBA):c.2511G>A (p.Gly837=)
|
|
|
NM_005908.4(MANBA):c.2526T>C (p.Asn842=)
|
|
|
NM_005908.4(MANBA):c.2547G>A (p.Lys849=)
|
|
|
NM_005908.4(MANBA):c.2553A>G (p.Arg851=)
|
|
|
NM_005908.4(MANBA):c.2556T>A (p.Thr852=)
|
|
|
NM_005908.4(MANBA):c.2577G>A (p.Glu859=)
|
|
|
NM_005908.4(MANBA):c.2592T>C (p.Asn864=)
|
rs1578852747
|
|
NM_005908.4(MANBA):c.2613T>C (p.His871=)
|
|
|
NM_005908.4(MANBA):c.270T>A (p.Ile90=)
|
|
|
NM_005908.4(MANBA):c.272+13G>A
|
|
|
NM_005908.4(MANBA):c.272+15G>T
|
|
|
NM_005908.4(MANBA):c.272+16G>C
|
|
|
NM_005908.4(MANBA):c.272+17G>A
|
|
|
NM_005908.4(MANBA):c.272+17G>T
|
|
|
NM_005908.4(MANBA):c.272+7A>G
|
|
|
NM_005908.4(MANBA):c.273-10T>C
|
|
|
NM_005908.4(MANBA):c.273-11C>G
|
|
|
NM_005908.4(MANBA):c.273-11_273-7del
|
|
|
NM_005908.4(MANBA):c.273-7T>A
|
|
|
NM_005908.4(MANBA):c.273-9T>C
|
|
|
NM_005908.4(MANBA):c.27C>A (p.Leu9=)
|
|
|
NM_005908.4(MANBA):c.285A>G (p.Lys95=)
|
|
|
NM_005908.4(MANBA):c.309G>A (p.Val103=)
|
|
|
NM_005908.4(MANBA):c.30G>A (p.Ala10=)
|
|
|
NM_005908.4(MANBA):c.328C>T (p.Leu110=)
|
|
|
NM_005908.4(MANBA):c.33G>A (p.Leu11=)
|
|
|
NM_005908.4(MANBA):c.357A>G (p.Thr119=)
|
|
|
NM_005908.4(MANBA):c.357A>T (p.Thr119=)
|
|
|
NM_005908.4(MANBA):c.360C>T (p.Asp120=)
|
|
|
NM_005908.4(MANBA):c.372T>C (p.Asn124=)
|
|
|
NM_005908.4(MANBA):c.378+14G>A
|
|
|
NM_005908.4(MANBA):c.378+15A>C
|
|
|
NM_005908.4(MANBA):c.378+15A>G
|
|
|
NM_005908.4(MANBA):c.378+16C>T
|
|
|
NM_005908.4(MANBA):c.378+17A>G
|
|
|
NM_005908.4(MANBA):c.378+19T>C
|
|
|
NM_005908.4(MANBA):c.378+9A>G
|
|
|
NM_005908.4(MANBA):c.379-14T>C
|
|
|
NM_005908.4(MANBA):c.379-16G>T
|
|
|
NM_005908.4(MANBA):c.396C>T (p.Asn132=)
|
|
|
NM_005908.4(MANBA):c.397G>A (p.Val133Met)
|
|
|
NM_005908.4(MANBA):c.39T>G (p.Gly13=)
|
|
|
NM_005908.4(MANBA):c.408C>T (p.Asp136=)
|
|
|
NM_005908.4(MANBA):c.426G>A (p.Leu142=)
|
|
|
NM_005908.4(MANBA):c.42A>G (p.Ala14=)
|
|
|
NM_005908.4(MANBA):c.441G>A (p.Ala147=)
|
|
|
NM_005908.4(MANBA):c.462G>A (p.Gln154=)
|
|
|
NM_005908.4(MANBA):c.480C>T (p.Arg160=)
|
|
|
NM_005908.4(MANBA):c.483C>T (p.Tyr161=)
|
|
|
NM_005908.4(MANBA):c.489T>C (p.Val163=)
|
|
|
NM_005908.4(MANBA):c.510T>A (p.Leu170=)
|
|
|
NM_005908.4(MANBA):c.51C>A (p.Thr17=)
|
|
|
NM_005908.4(MANBA):c.51C>T (p.Thr17=)
|
|
|
NM_005908.4(MANBA):c.540T>C (p.Phe180=)
|
|
|
NM_005908.4(MANBA):c.549+18A>G
|
|
|
NM_005908.4(MANBA):c.549+20G>A
|
|
|
NM_005908.4(MANBA):c.549+7G>A
|
|
|
NM_005908.4(MANBA):c.549+8T>C
|
|
|
NM_005908.4(MANBA):c.54C>A (p.Ala18=)
|
|
|
NM_005908.4(MANBA):c.54C>T (p.Ala18=)
|
|
|
NM_005908.4(MANBA):c.550-6T>C
|
|
|
NM_005908.4(MANBA):c.564T>C (p.Phe188=)
|
|
|
NM_005908.4(MANBA):c.579G>A (p.Gly193=)
|
|
|
NM_005908.4(MANBA):c.597G>A (p.Gln199=)
|
rs1213852355
|
|
NM_005908.4(MANBA):c.673+12G>A
|
|
|
NM_005908.4(MANBA):c.673+17G>A
|
|
|
NM_005908.4(MANBA):c.673+18A>G
|
|
|
NM_005908.4(MANBA):c.674-16T>C
|
|
|
NM_005908.4(MANBA):c.674-17T>C
|
|
|
NM_005908.4(MANBA):c.674-6T>A
|
|
|
NM_005908.4(MANBA):c.674-7A>G
|
|
|
NM_005908.4(MANBA):c.681T>C (p.Ser227=)
|
|
|
NM_005908.4(MANBA):c.735G>A (p.Lys245=)
|
|
|
NM_005908.4(MANBA):c.756C>T (p.Ile252=)
|
|
|
NM_005908.4(MANBA):c.759A>C (p.Val253=)
|
|
|
NM_005908.4(MANBA):c.762C>T (p.Ala254=)
|
|
|
NM_005908.4(MANBA):c.771G>A (p.Lys257=)
|
|
|
NM_005908.4(MANBA):c.774G>A (p.Leu258=)
|
|
|
NM_005908.4(MANBA):c.780A>T (p.Thr260=)
|
rs1318996389
|
|
NM_005908.4(MANBA):c.822T>C (p.Ile274=)
|
|
|
NM_005908.4(MANBA):c.828G>A (p.Glu276=)
|
|
|
NM_005908.4(MANBA):c.843T>C (p.Ile281=)
|
|
|
NM_005908.4(MANBA):c.849+13del
|
|
|
NM_005908.4(MANBA):c.849+8A>G
|
|
|
NM_005908.4(MANBA):c.84C>T (p.Asn28=)
|
|
|
NM_005908.4(MANBA):c.850-10T>C
|
|
|
NM_005908.4(MANBA):c.850-18T>G
|
|
|
NM_005908.4(MANBA):c.850-19T>C
|
|
|
NM_005908.4(MANBA):c.850-5A>T
|
|
|
NM_005908.4(MANBA):c.885T>C (p.His295=)
|
|
|
NM_005908.4(MANBA):c.891C>T (p.Asn297=)
|
|
|
NM_005908.4(MANBA):c.897T>G (p.Thr299=)
|
|
|
NM_005908.4(MANBA):c.921T>C (p.Phe307=)
|
|
|
NM_005908.4(MANBA):c.925C>T (p.Leu309=)
|
|
|
NM_005908.4(MANBA):c.930T>C (p.Asp310=)
|
|
|
NM_005908.4(MANBA):c.936C>T (p.Gly312=)
|
|
|
NM_005908.4(MANBA):c.954A>G (p.Ser318=)
|
|
|
NM_005908.4(MANBA):c.960+19A>C
|
|
|
NM_005908.4(MANBA):c.960+9G>A
|
|
|
NM_005908.4(MANBA):c.961-16A>C
|
|
|
NM_005908.4(MANBA):c.9C>T (p.Leu3=)
|
|
|
NM_006765.4(TUSC3):c.159A>C (p.Val53=)
|
|
|
NM_006765.4(TUSC3):c.255C>T (p.Ser85=)
|
|
|
NM_006765.4(TUSC3):c.309-16C>T
|
|
|
NM_006765.4(TUSC3):c.426+16G>A
|
|
|
NM_006765.4(TUSC3):c.609T>G (p.Ala203=)
|
|
|
NM_006765.4(TUSC3):c.640T>C (p.Leu214=)
|
|
|
NM_006765.4(TUSC3):c.708+16G>T
|
|
|
NM_006765.4(TUSC3):c.867C>T (p.Ala289=)
|
|
|
NM_006765.4(TUSC3):c.924T>G (p.Val308=)
|
|
|
NM_006765.4(TUSC3):c.938-10C>G
|
|
|
NM_006765.4(TUSC3):c.93G>C (p.Leu31=)
|
|
|
NM_006765.4(TUSC3):c.946C>T (p.Leu316=)
|
|
|
NM_006765.4(TUSC3):c.94C>T (p.Leu32=)
|
|
|
NM_006859.4(LIAS):c.1023T>C (p.His341=)
|
|
|
NM_006859.4(LIAS):c.1041T>C (p.Pro347=)
|
|
|
NM_006859.4(LIAS):c.105A>G (p.Lys35=)
|
rs2109867811
|
|
NM_006859.4(LIAS):c.1065A>T (p.Ala355=)
|
rs765479168
|
|
NM_006859.4(LIAS):c.1066+12T>C
|
|
|
NM_006859.4(LIAS):c.1066+16G>A
|
|
|
NM_006859.4(LIAS):c.1066+18G>T
|
|
|
NM_006859.4(LIAS):c.1066+19C>T
|
|
|
NM_006859.4(LIAS):c.1067-11T>C
|
rs1315541765
|
|
NM_006859.4(LIAS):c.1067-15C>G
|
|
|
NM_006859.4(LIAS):c.1068T>G (p.Gly356=)
|
|
|
NM_006859.4(LIAS):c.1098A>G (p.Lys366=)
|
|
|
NM_006859.4(LIAS):c.1113C>T (p.Asp371=)
|
|
|
NM_006859.4(LIAS):c.1118A>G (p.Ter373=)
|
|
|
NM_006859.4(LIAS):c.114C>A (p.Leu38=)
|
rs750439302
|
|
NM_006859.4(LIAS):c.120G>A (p.Gln40=)
|
|
|
NM_006859.4(LIAS):c.144T>C (p.Phe48=)
|
rs745864982
|
|
NM_006859.4(LIAS):c.166A>C (p.Arg56=)
|
|
|
NM_006859.4(LIAS):c.218+14T>A
|
|
|
NM_006859.4(LIAS):c.218+15G>A
|
|
|
NM_006859.4(LIAS):c.218+19T>C
|
|
|
NM_006859.4(LIAS):c.218+7_218+13dup
|
|
|
NM_006859.4(LIAS):c.219-6C>T
|
|
|
NM_006859.4(LIAS):c.231T>C (p.Pro77=)
|
|
|
NM_006859.4(LIAS):c.291G>A (p.Leu97=)
|
|
|
NM_006859.4(LIAS):c.292C>A (p.Arg98=)
|
|
|
NM_006859.4(LIAS):c.312+17T>G
|
rs1744546093
|
|
NM_006859.4(LIAS):c.312+8G>T
|
|
|
NM_006859.4(LIAS):c.313-12T>G
|
rs2109872778
|
|
NM_006859.4(LIAS):c.313-14C>T
|
|
|
NM_006859.4(LIAS):c.313-19C>T
|
|
|
NM_006859.4(LIAS):c.313-6A>G
|
|
|
NM_006859.4(LIAS):c.313-7C>T
|
|
|
NM_006859.4(LIAS):c.315A>G (p.Val105=)
|
|
|
NM_006859.4(LIAS):c.342T>C (p.Ile114=)
|
|
|
NM_006859.4(LIAS):c.393+17C>T
|
|
|
NM_006859.4(LIAS):c.393+7C>A
|
rs372423537
|
|
NM_006859.4(LIAS):c.45+10G>A
|
|
|
NM_006859.4(LIAS):c.45+12G>A
|
|
|
NM_006859.4(LIAS):c.45+18C>T
|
|
|
NM_006859.4(LIAS):c.45+19G>T
|
|
|
NM_006859.4(LIAS):c.45+20G>T
|
rs1424759183
|
|
NM_006859.4(LIAS):c.45+7G>A
|
rs1263617011
|
|
NM_006859.4(LIAS):c.46-13A>T
|
|
|
NM_006859.4(LIAS):c.46-17A>G
|
rs2109867537
|
|
NM_006859.4(LIAS):c.46-5T>C
|
rs764526355
|
|
NM_006859.4(LIAS):c.462A>C (p.Pro154=)
|
rs924459280
|
|
NM_006859.4(LIAS):c.550+11C>T
|
|
|
NM_006859.4(LIAS):c.550+12A>G
|
|
|
NM_006859.4(LIAS):c.550+16T>C
|
|
|
NM_006859.4(LIAS):c.550+9G>A
|
rs1744712599
|
|
NM_006859.4(LIAS):c.551-16A>T
|
|
|
NM_006859.4(LIAS):c.551-19T>C
|
rs2109875645
|
|
NM_006859.4(LIAS):c.588C>T (p.Thr196=)
|
|
|
NM_006859.4(LIAS):c.597T>C (p.Tyr199=)
|
rs2109875753
|
|
NM_006859.4(LIAS):c.600A>G (p.Leu200=)
|
|
|
NM_006859.4(LIAS):c.608+7A>C
|
|
|
NM_006859.4(LIAS):c.609-13C>T
|
|
|
NM_006859.4(LIAS):c.609-6C>T
|
rs1744804569
|
|
NM_006859.4(LIAS):c.705A>C (p.Ala235=)
|
rs111583368
|
|
NM_006859.4(LIAS):c.714A>G (p.Val238=)
|
|
|
NM_006859.4(LIAS):c.723C>A (p.Val241=)
|
rs1029290249
|
|
NM_006859.4(LIAS):c.737+20A>T
|
|
|
NM_006859.4(LIAS):c.737+6dup
|
|
|
NM_006859.4(LIAS):c.76A>G (p.Arg26Gly)
|
rs773069554
|
|
NM_006859.4(LIAS):c.7C>T (p.Leu3=)
|
rs1553933562
|
|
NM_006859.4(LIAS):c.801G>A (p.Lys267=)
|
|
|
NM_006859.4(LIAS):c.834A>C (p.Ile278=)
|
|
|
NM_006859.4(LIAS):c.838T>C (p.Leu280=)
|
|
|
NM_006859.4(LIAS):c.849C>A (p.Gly283=)
|
rs146030265
|
|
NM_006859.4(LIAS):c.883+10T>C
|
|
|
NM_006859.4(LIAS):c.883+15_883+56del
|
rs1368518925
|
|
NM_006859.4(LIAS):c.900T>C (p.Asp300=)
|
rs958145023
|
|
NM_006859.4(LIAS):c.924A>G (p.Gln308=)
|
|
|
NM_006859.4(LIAS):c.93G>A (p.Leu31=)
|
|
|
NM_006859.4(LIAS):c.954+11C>A
|
|
|
NM_006859.4(LIAS):c.954+18dup
|
|
|
NM_006859.4(LIAS):c.954+20C>G
|
|
|
NM_006859.4(LIAS):c.954+20C>T
|
rs918706580
|
|
NM_006859.4(LIAS):c.954+9A>G
|
|
|
NM_006859.4(LIAS):c.955-11T>C
|
|
|
NM_006859.4(LIAS):c.955-13T>G
|
rs755822707
|
|
NM_006859.4(LIAS):c.955-4C>G
|
rs2109887808
|
|
NM_006859.4(LIAS):c.955-7A>T
|
|
|
NM_006859.4(LIAS):c.963A>G (p.Glu321=)
|
|
|
NM_006859.4(LIAS):c.975T>C (p.Pro325=)
|
|
|
NM_012434.5(SLC17A5):c.1008A>G (p.Leu336=)
|
|
|
NM_012434.5(SLC17A5):c.1023T>C (p.Cys341=)
|
|
|
NM_012434.5(SLC17A5):c.1032G>A (p.Leu344=)
|
rs2150091563
|
|
NM_012434.5(SLC17A5):c.1050C>T (p.Asp350=)
|
|
|
NM_012434.5(SLC17A5):c.1092C>T (p.Arg364=)
|
|
|
NM_012434.5(SLC17A5):c.1095A>G (p.Arg365=)
|
|
|
NM_012434.5(SLC17A5):c.1111+10G>A
|
|
|
NM_012434.5(SLC17A5):c.1111+15C>G
|
|
|
NM_012434.5(SLC17A5):c.1111+16A>G
|
|
|
NM_012434.5(SLC17A5):c.1111+17G>A
|
|
|
NM_012434.5(SLC17A5):c.1111+8A>T
|
|
|
NM_012434.5(SLC17A5):c.1111+9A>G
|
|
|
NM_012434.5(SLC17A5):c.1111+9A>T
|
|
|
NM_012434.5(SLC17A5):c.1112-12T>C
|
|
|
NM_012434.5(SLC17A5):c.1112-12_1112-5del
|
rs2150086759
|
|
NM_012434.5(SLC17A5):c.1112-14C>T
|
|
|
NM_012434.5(SLC17A5):c.1112-8A>C
|
rs1581962639
|
|
NM_012434.5(SLC17A5):c.1112-9T>A
|
|
|
NM_012434.5(SLC17A5):c.1131A>G (p.Val377=)
|
rs2150086727
|
|
NM_012434.5(SLC17A5):c.1131A>T (p.Val377=)
|
|
|
NM_012434.5(SLC17A5):c.1137G>C (p.Leu379=)
|
|
|
NM_012434.5(SLC17A5):c.1140A>C (p.Val380=)
|
rs2150086711
|
|
NM_012434.5(SLC17A5):c.1149C>T (p.Gly383=)
|
|
|
NM_012434.5(SLC17A5):c.114T>C (p.Ala38=)
|
|
|
NM_012434.5(SLC17A5):c.1161T>C (p.Cys387=)
|
|
|
NM_012434.5(SLC17A5):c.1167T>C (p.Tyr389=)
|
rs1054309453
|
|
NM_012434.5(SLC17A5):c.1176C>A (p.Ala392=)
|
|
|
NM_012434.5(SLC17A5):c.1176C>T (p.Ala392=)
|
rs372195490
|
|
NM_012434.5(SLC17A5):c.1182T>C (p.Ala394=)
|
|
|
NM_012434.5(SLC17A5):c.1197A>C (p.Ser399=)
|
|
|
NM_012434.5(SLC17A5):c.120C>T (p.Tyr40=)
|
|
|
NM_012434.5(SLC17A5):c.1215T>C (p.Phe405=)
|
rs2150086614
|
|
NM_012434.5(SLC17A5):c.1254T>C (p.Ala418=)
|
|
|
NM_012434.5(SLC17A5):c.1259+11A>G
|
|
|
NM_012434.5(SLC17A5):c.1259+12T>C
|
|
|
NM_012434.5(SLC17A5):c.1259+14_1259+15del
|
|
|
NM_012434.5(SLC17A5):c.1259+18G>A
|
|
|
NM_012434.5(SLC17A5):c.1259+8C>G
|
|
|
NM_012434.5(SLC17A5):c.1260-15A>G
|
|
|
NM_012434.5(SLC17A5):c.1260-4A>G
|
rs764321218
|
|
NM_012434.5(SLC17A5):c.1260-5T>A
|
|
|
NM_012434.5(SLC17A5):c.1260-6C>T
|
rs2150075911
|
|
NM_012434.5(SLC17A5):c.1263T>C (p.Tyr421=)
|
|
|
NM_012434.5(SLC17A5):c.1272C>T (p.Ile424=)
|
rs374241516
|
|
NM_012434.5(SLC17A5):c.1275C>T (p.Leu425=)
|
|
|
NM_012434.5(SLC17A5):c.1278G>T (p.Leu426=)
|
rs1167569087
|
|
NM_012434.5(SLC17A5):c.1287A>G (p.Thr429=)
|
|
|
NM_012434.5(SLC17A5):c.1293A>G (p.Thr431=)
|
|
|
NM_012434.5(SLC17A5):c.129A>G (p.Ala43=)
|
rs966339277
|
|
NM_012434.5(SLC17A5):c.1302T>G (p.Thr434=)
|
|
|
NM_012434.5(SLC17A5):c.1317T>C (p.Val439=)
|
|
|
NM_012434.5(SLC17A5):c.1320G>C (p.Gly440=)
|
rs373258092
|
|
NM_012434.5(SLC17A5):c.1323C>T (p.Pro441=)
|
|
|
NM_012434.5(SLC17A5):c.1326C>T (p.Val442=)
|
|
|
NM_012434.5(SLC17A5):c.1344C>T (p.Thr448=)
|
|
|
NM_012434.5(SLC17A5):c.1350+13T>G
|
|
|
NM_012434.5(SLC17A5):c.1350+15T>C
|
|
|
NM_012434.5(SLC17A5):c.1350+8G>C
|
rs918930871
|
|
NM_012434.5(SLC17A5):c.1351-5T>C
|
rs2150071217
|
|
NM_012434.5(SLC17A5):c.1351-9C>A
|
rs1201860872
|
|
NM_012434.5(SLC17A5):c.1374C>T (p.Thr458=)
|
|
|
NM_012434.5(SLC17A5):c.138C>T (p.Ala46=)
|
|
|
NM_012434.5(SLC17A5):c.1401T>C (p.Asn467=)
|
rs1017115082
|
|
NM_012434.5(SLC17A5):c.1407T>C (p.Phe469=)
|
|
|
NM_012434.5(SLC17A5):c.1422T>C (p.Phe474=)
|
rs766608932
|
|
NM_012434.5(SLC17A5):c.1440T>C (p.Gly480=)
|
rs2150071076
|
|
NM_012434.5(SLC17A5):c.144T>C (p.Phe48=)
|
|
|
NM_012434.5(SLC17A5):c.1452C>T (p.Asn484=)
|
|
|
NM_012434.5(SLC17A5):c.1473T>C (p.His491=)
|
|
|
NM_012434.5(SLC17A5):c.1479C>T (p.His493=)
|
|
|
NM_012434.5(SLC17A5):c.1482A>G (p.Arg494=)
|
rs2150071024
|
|
NM_012434.5(SLC17A5):c.156T>C (p.Ile52=)
|
|
|
NM_012434.5(SLC17A5):c.159G>A (p.Val53=)
|
|
|
NM_012434.5(SLC17A5):c.178C>T (p.Leu60=)
|
|
|
NM_012434.5(SLC17A5):c.180G>C (p.Leu60=)
|
|
|
NM_012434.5(SLC17A5):c.192A>G (p.Leu64=)
|
|
|
NM_012434.5(SLC17A5):c.198T>C (p.Asp66=)
|
rs2150120840
|
|
NM_012434.5(SLC17A5):c.222A>G (p.Leu74=)
|
rs760030802
|
|
NM_012434.5(SLC17A5):c.231T>C (p.Asn77=)
|
|
|
NM_012434.5(SLC17A5):c.240C>A (p.Ser80=)
|
rs374617105
|
|
NM_012434.5(SLC17A5):c.240C>T (p.Ser80=)
|
rs374617105
|
|
NM_012434.5(SLC17A5):c.243G>A (p.Lys81=)
|
rs2150120782
|
|
NM_012434.5(SLC17A5):c.24G>A (p.Leu8=)
|
|
|
NM_012434.5(SLC17A5):c.261T>C (p.Ser87=)
|
rs1389502020
|
|
NM_012434.5(SLC17A5):c.264T>C (p.Ala88=)
|
rs777927222
|
|
NM_012434.5(SLC17A5):c.291+10A>T
|
rs770302216
|
|
NM_012434.5(SLC17A5):c.291+13T>G
|
|
|
NM_012434.5(SLC17A5):c.291+14T>C
|
|
|
NM_012434.5(SLC17A5):c.291+7G>A
|
rs1211429440
|
|
NM_012434.5(SLC17A5):c.291+7G>T
|
|
|
NM_012434.5(SLC17A5):c.292-13C>G
|
|
|
NM_012434.5(SLC17A5):c.292-15T>C
|
|
|
NM_012434.5(SLC17A5):c.292-4G>C
|
rs370580788
|
|
NM_012434.5(SLC17A5):c.294T>C (p.Gly98=)
|
rs2150118517
|
|
NM_012434.5(SLC17A5):c.306A>G (p.Gln102=)
|
rs2150118493
|
|
NM_012434.5(SLC17A5):c.321T>G (p.Thr107=)
|
|
|
NM_012434.5(SLC17A5):c.342C>G (p.Ser114=)
|
rs2150118452
|
|
NM_012434.5(SLC17A5):c.360C>A (p.Ile120=)
|
|
|
NM_012434.5(SLC17A5):c.36T>C (p.Asp12=)
|
rs776780567
|
|
NM_012434.5(SLC17A5):c.39C>G (p.Gly13=)
|
|
|
NM_012434.5(SLC17A5):c.408A>G (p.Lys136=)
|
|
|
NM_012434.5(SLC17A5):c.441T>A (p.Ala147=)
|
|
|
NM_012434.5(SLC17A5):c.441T>C (p.Ala147=)
|
rs2150118328
|
|
NM_012434.5(SLC17A5):c.444C>T (p.Val148=)
|
rs754150320
|
|
NM_012434.5(SLC17A5):c.447C>T (p.Leu149=)
|
|
|
NM_012434.5(SLC17A5):c.453G>A (p.Leu151=)
|
rs138093163
|
|
NM_012434.5(SLC17A5):c.456C>T (p.Phe152=)
|
|
|
NM_012434.5(SLC17A5):c.45G>A (p.Glu15=)
|
|
|
NM_012434.5(SLC17A5):c.489A>G (p.Pro163=)
|
rs1769294987
|
|
NM_012434.5(SLC17A5):c.492C>T (p.Leu164=)
|
rs2150118298
|
|
NM_012434.5(SLC17A5):c.4A>C (p.Arg2=)
|
|
|
NM_012434.5(SLC17A5):c.507A>C (p.Ala169=)
|
rs369334689
|
|
NM_012434.5(SLC17A5):c.507A>T (p.Ala169=)
|
|
|
NM_012434.5(SLC17A5):c.517C>T (p.Leu173=)
|
rs2150118262
|
|
NM_012434.5(SLC17A5):c.519A>G (p.Leu173=)
|
rs377101723
|
|
NM_012434.5(SLC17A5):c.51G>T (p.Thr17=)
|
rs1380441539
|
|
NM_012434.5(SLC17A5):c.525+16C>G
|
|
|
NM_012434.5(SLC17A5):c.525+19_525+20del
|
|
|
NM_012434.5(SLC17A5):c.525+20T>G
|
|
|
NM_012434.5(SLC17A5):c.525+9C>G
|
rs1769291251
|
|
NM_012434.5(SLC17A5):c.525+9C>T
|
|
|
NM_012434.5(SLC17A5):c.526-10C>T
|
|
|
NM_012434.5(SLC17A5):c.526-18_526-16del
|
|
|
NM_012434.5(SLC17A5):c.526-19T>C
|
|
|
NM_012434.5(SLC17A5):c.526-8TC[2]
|
rs1581985046
|
|
NM_012434.5(SLC17A5):c.531T>A (p.Val177=)
|
|
|
NM_012434.5(SLC17A5):c.549T>C (p.His183=)
|
|
|
NM_012434.5(SLC17A5):c.579T>G (p.Leu193=)
|
|
|
NM_012434.5(SLC17A5):c.600C>T (p.Ser200=)
|
rs2150115197
|
|
NM_012434.5(SLC17A5):c.606A>T (p.Ser202=)
|
|
|
NM_012434.5(SLC17A5):c.609T>C (p.Tyr203=)
|
|
|
NM_012434.5(SLC17A5):c.60G>A (p.Thr20=)
|
|
|
NM_012434.5(SLC17A5):c.60G>T (p.Thr20=)
|
rs1163686601
|
|
NM_012434.5(SLC17A5):c.613+11A>G
|
|
|
NM_012434.5(SLC17A5):c.613+12A>G
|
|
|
NM_012434.5(SLC17A5):c.613+14T>C
|
|
|
NM_012434.5(SLC17A5):c.613+19A>T
|
|
|
NM_012434.5(SLC17A5):c.614-13T>C
|
|
|
NM_012434.5(SLC17A5):c.614-14dup
|
|
|
NM_012434.5(SLC17A5):c.614-7_614-5del
|
|
|
NM_012434.5(SLC17A5):c.614-8T>C
|
|
|
NM_012434.5(SLC17A5):c.614-9T>C
|
rs2150113641
|
|
NM_012434.5(SLC17A5):c.627G>A (p.Gly209=)
|
|
|
NM_012434.5(SLC17A5):c.627G>T (p.Gly209=)
|
|
|
NM_012434.5(SLC17A5):c.63T>G (p.Pro21=)
|
rs2150128022
|
|
NM_012434.5(SLC17A5):c.642T>C (p.Leu214=)
|
rs2150113603
|
|
NM_012434.5(SLC17A5):c.663C>T (p.Cys221=)
|
|
|
NM_012434.5(SLC17A5):c.681T>C (p.Thr227=)
|
rs2150113553
|
|
NM_012434.5(SLC17A5):c.684T>C (p.Tyr228=)
|
rs1554163945
|
|
NM_012434.5(SLC17A5):c.700+12A>T
|
|
|
NM_012434.5(SLC17A5):c.700+8T>A
|
|
|
NM_012434.5(SLC17A5):c.701-14T>C
|
|
|
NM_012434.5(SLC17A5):c.701-16A>G
|
|
|
NM_012434.5(SLC17A5):c.701-19_701-18del
|
|
|
NM_012434.5(SLC17A5):c.701-22_701-19del
|
rs1561997520
|
|
NM_012434.5(SLC17A5):c.701-7T>C
|
|
|
NM_012434.5(SLC17A5):c.701-8A>G
|
|
|
NM_012434.5(SLC17A5):c.711A>G (p.Gly237=)
|
|
|
NM_012434.5(SLC17A5):c.727T>C (p.Leu243=)
|
rs2150112400
|
|
NM_012434.5(SLC17A5):c.729G>A (p.Leu243=)
|
rs1207694346
|
|
NM_012434.5(SLC17A5):c.75C>A (p.Gly25=)
|
|
|
NM_012434.5(SLC17A5):c.768G>A (p.Lys256=)
|
|
|
NM_012434.5(SLC17A5):c.771A>G (p.Arg257=)
|
|
|
NM_012434.5(SLC17A5):c.780T>C (p.His260=)
|
|
|
NM_012434.5(SLC17A5):c.792A>G (p.Glu264=)
|
|
|
NM_012434.5(SLC17A5):c.795C>T (p.Tyr265=)
|
|
|
NM_012434.5(SLC17A5):c.804A>T (p.Ser268=)
|
rs750559102
|
|
NM_012434.5(SLC17A5):c.813A>G (p.Arg271=)
|
|
|
NM_012434.5(SLC17A5):c.819+7A>C
|
rs2150112286
|
|
NM_012434.5(SLC17A5):c.820-16T>C
|
|
|
NM_012434.5(SLC17A5):c.820-17A>G
|
|
|
NM_012434.5(SLC17A5):c.820-19T>C
|
|
|
NM_012434.5(SLC17A5):c.825T>C (p.Ser275=)
|
rs2150099476
|
|
NM_012434.5(SLC17A5):c.825T>G (p.Ser275=)
|
rs2150099476
|
|
NM_012434.5(SLC17A5):c.828A>C (p.Ser276=)
|
|
|
NM_012434.5(SLC17A5):c.82C>A (p.Arg28=)
|
|
|
NM_012434.5(SLC17A5):c.837A>G (p.Ser279=)
|
rs2150099452
|
|
NM_012434.5(SLC17A5):c.843G>T (p.Pro281=)
|
rs567868125
|
|
NM_012434.5(SLC17A5):c.849A>T (p.Val283=)
|
rs1561992699
|
|
NM_012434.5(SLC17A5):c.864C>A (p.Ser288=)
|
rs1392111099
|
|
NM_012434.5(SLC17A5):c.864C>G (p.Ser288=)
|
rs1392111099
|
|
NM_012434.5(SLC17A5):c.867G>A (p.Leu289=)
|
|
|
NM_012434.5(SLC17A5):c.873T>C (p.Leu291=)
|
rs746795819
|
|
NM_012434.5(SLC17A5):c.882C>T (p.Ile294=)
|
rs1768170111
|
|
NM_012434.5(SLC17A5):c.924A>G (p.Leu308=)
|
rs2150099285
|
|
NM_012434.5(SLC17A5):c.927G>A (p.Leu309=)
|
|
|
NM_012434.5(SLC17A5):c.933A>G (p.Leu311=)
|
|
|
NM_012434.5(SLC17A5):c.94+12G>T
|
|
|
NM_012434.5(SLC17A5):c.94+13G>A
|
|
|
NM_012434.5(SLC17A5):c.94+15C>A
|
|
|
NM_012434.5(SLC17A5):c.94+7G>A
|
rs1221669032
|
|
NM_012434.5(SLC17A5):c.94+7G>C
|
|
|
NM_012434.5(SLC17A5):c.94+9C>A
|
|
|
NM_012434.5(SLC17A5):c.945T>C (p.Tyr315=)
|
rs2150099250
|
|
NM_012434.5(SLC17A5):c.95-13A>T
|
|
|
NM_012434.5(SLC17A5):c.95-19T>C
|
|
|
NM_012434.5(SLC17A5):c.95-20T>G
|
|
|
NM_012434.5(SLC17A5):c.95-37_95-20del
|
rs771211311
|
|
NM_012434.5(SLC17A5):c.954G>A (p.Glu318=)
|
|
|
NM_012434.5(SLC17A5):c.96T>A (p.Ala32=)
|
|
|
NM_012434.5(SLC17A5):c.972T>C (p.Val324=)
|
|
|
NM_012434.5(SLC17A5):c.978+13_978+15del
|
|
|
NM_012434.5(SLC17A5):c.978+16C>T
|
|
|
NM_012434.5(SLC17A5):c.978+17_978+19del
|
|
|
NM_012434.5(SLC17A5):c.978+18T>A
|
|
|
NM_012434.5(SLC17A5):c.979-10T>C
|
|
|
NM_012434.5(SLC17A5):c.979-11A>G
|
|
|
NM_012434.5(SLC17A5):c.979-12T>C
|
|
|
NM_012434.5(SLC17A5):c.979-7C>T
|
rs1247597551
|
|
NM_012434.5(SLC17A5):c.999G>A (p.Leu333=)
|
rs1561989819
|
|
NM_012434.5(SLC17A5):c.9T>A (p.Ser3=)
|
|
|
NM_012434.5(SLC17A5):c.9T>C (p.Ser3=)
|
|
|
NM_016042.4(EXOSC3):c.100C>T (p.Leu34=)
|
|
|
NM_016042.4(EXOSC3):c.105C>T (p.Leu35=)
|
|
|
NM_016042.4(EXOSC3):c.126G>T (p.Ala42=)
|
|
|
NM_016042.4(EXOSC3):c.150G>A (p.Glu50=)
|
|
|
NM_016042.4(EXOSC3):c.156G>A (p.Pro52=)
|
|
|
NM_016042.4(EXOSC3):c.15G>T (p.Ala5=)
|
|
|
NM_016042.4(EXOSC3):c.171T>C (p.Ala57=)
|
rs1589061382
|
|
NM_016042.4(EXOSC3):c.201C>T (p.Cys67=)
|
|
|
NM_016042.4(EXOSC3):c.21C>A (p.Val7=)
|
|
|
NM_016042.4(EXOSC3):c.21C>G (p.Val7=)
|
|
|
NM_016042.4(EXOSC3):c.231C>T (p.Arg77=)
|
|
|
NM_016042.4(EXOSC3):c.234G>C (p.Leu78=)
|
|
|
NM_016042.4(EXOSC3):c.234G>T (p.Leu78=)
|
|
|
NM_016042.4(EXOSC3):c.240C>T (p.Val80=)
|
|
|
NM_016042.4(EXOSC3):c.246G>A (p.Lys82=)
|
|
|
NM_016042.4(EXOSC3):c.249C>T (p.Cys83=)
|
|
|
NM_016042.4(EXOSC3):c.258C>T (p.Leu86=)
|
|
|
NM_016042.4(EXOSC3):c.261T>A (p.Arg87=)
|
rs1294998925
|
|
NM_016042.4(EXOSC3):c.264C>T (p.His88=)
|
|
|
NM_016042.4(EXOSC3):c.276C>T (p.Gly92=)
|
|
|
NM_016042.4(EXOSC3):c.279T>C (p.Ser93=)
|
|
|
NM_016042.4(EXOSC3):c.27T>C (p.Ala9=)
|
|
|
NM_016042.4(EXOSC3):c.288C>T (p.Gly96=)
|
|
|
NM_016042.4(EXOSC3):c.300C>T (p.Tyr100=)
|
|
|
NM_016042.4(EXOSC3):c.309C>T (p.Asp103=)
|
|
|
NM_016042.4(EXOSC3):c.321G>A (p.Lys107=)
|
|
|
NM_016042.4(EXOSC3):c.324+9G>T
|
|
|
NM_016042.4(EXOSC3):c.325-10C>G
|
|
|
NM_016042.4(EXOSC3):c.325-20C>T
|
|
|
NM_016042.4(EXOSC3):c.366A>C (p.Thr122=)
|
|
|
NM_016042.4(EXOSC3):c.36C>T (p.Leu12=)
|
|
|
NM_016042.4(EXOSC3):c.396T>C (p.Asp132=)
|
|
|
NM_016042.4(EXOSC3):c.414A>G (p.Pro138=)
|
|
|
NM_016042.4(EXOSC3):c.417T>C (p.Ala139=)
|
|
|
NM_016042.4(EXOSC3):c.421T>C (p.Leu141=)
|
|
|
NM_016042.4(EXOSC3):c.423G>A (p.Leu141=)
|
|
|
NM_016042.4(EXOSC3):c.429C>T (p.Tyr143=)
|
|
|
NM_016042.4(EXOSC3):c.42C>T (p.Gly14=)
|
rs1828679645
|
|
NM_016042.4(EXOSC3):c.441A>G (p.Glu147=)
|
|
|
NM_016042.4(EXOSC3):c.444T>C (p.Gly148=)
|
|
|
NM_016042.4(EXOSC3):c.46A>C (p.Arg16=)
|
|
|
NM_016042.4(EXOSC3):c.474+11G>C
|
|
|
NM_016042.4(EXOSC3):c.474+11del
|
|
|
NM_016042.4(EXOSC3):c.474+13G>A
|
|
|
NM_016042.4(EXOSC3):c.474+14C>T
|
|
|
NM_016042.4(EXOSC3):c.474+15C>T
|
|
|
NM_016042.4(EXOSC3):c.474+16T>C
|
|
|
NM_016042.4(EXOSC3):c.474+8C>T
|
|
|
NM_016042.4(EXOSC3):c.474+9G>A
|
|
|
NM_016042.4(EXOSC3):c.475-15T>A
|
|
|
NM_016042.4(EXOSC3):c.475-6T>C
|
|
|
NM_016042.4(EXOSC3):c.475-8_475-6del
|
|
|
NM_016042.4(EXOSC3):c.475-8del
|
|
|
NM_016042.4(EXOSC3):c.51G>C (p.Ala17=)
|
|
|
NM_016042.4(EXOSC3):c.531G>A (p.Glu177=)
|
|
|
NM_016042.4(EXOSC3):c.537C>T (p.Val179=)
|
|
|
NM_016042.4(EXOSC3):c.546C>T (p.Asp182=)
|
|
|
NM_016042.4(EXOSC3):c.555A>G (p.Gly185=)
|
|
|
NM_016042.4(EXOSC3):c.579T>C (p.Ile193=)
|
|
|
NM_016042.4(EXOSC3):c.57T>C (p.Ala19=)
|
|
|
NM_016042.4(EXOSC3):c.582A>G (p.Gly194=)
|
|
|
NM_016042.4(EXOSC3):c.591T>G (p.Gly197=)
|
rs753935327
|
|
NM_016042.4(EXOSC3):c.592C>T (p.Leu198=)
|
|
|
NM_016042.4(EXOSC3):c.594G>A (p.Leu198=)
|
|
|
NM_016042.4(EXOSC3):c.594G>C (p.Leu198=)
|
|
|
NM_016042.4(EXOSC3):c.60A>G (p.Ala20=)
|
|
|
NM_016042.4(EXOSC3):c.615C>T (p.Gly205=)
|
|
|
NM_016042.4(EXOSC3):c.626+11A>G
|
|
|
NM_016042.4(EXOSC3):c.626+15C>G
|
|
|
NM_016042.4(EXOSC3):c.627-12_627-8del
|
rs778480656
|
|
NM_016042.4(EXOSC3):c.627-16_627-12del
|
|
|
NM_016042.4(EXOSC3):c.627-18C>A
|
|
|
NM_016042.4(EXOSC3):c.630A>G (p.Leu210=)
|
|
|
NM_016042.4(EXOSC3):c.63C>G (p.Arg21=)
|
|
|
NM_016042.4(EXOSC3):c.63C>T (p.Arg21=)
|
|
|
NM_016042.4(EXOSC3):c.642T>C (p.Asp214=)
|
|
|
NM_016042.4(EXOSC3):c.663G>A (p.Val221=)
|
|
|
NM_016042.4(EXOSC3):c.66A>C (p.Thr22=)
|
|
|
NM_016042.4(EXOSC3):c.66A>G (p.Thr22=)
|
|
|
NM_016042.4(EXOSC3):c.675T>C (p.Tyr225=)
|
|
|
NM_016042.4(EXOSC3):c.684G>A (p.Glu228=)
|
|
|
NM_016042.4(EXOSC3):c.69A>G (p.Val23=)
|
|
|
NM_016042.4(EXOSC3):c.6C>A (p.Ala2=)
|
|
|
NM_016042.4(EXOSC3):c.6C>G (p.Ala2=)
|
|
|
NM_016042.4(EXOSC3):c.6C>T (p.Ala2=)
|
|
|
NM_016042.4(EXOSC3):c.702T>C (p.Asn234=)
|
|
|
NM_016042.4(EXOSC3):c.70C>T (p.Leu24=)
|
|
|
NM_016042.4(EXOSC3):c.741T>C (p.Thr247=)
|
|
|
NM_016042.4(EXOSC3):c.753A>C (p.Ala251=)
|
|
|
NM_016042.4(EXOSC3):c.804C>T (p.Ile268=)
|
|
|
NM_016042.4(EXOSC3):c.816G>A (p.Leu272=)
|
|
|
NM_016042.4(EXOSC3):c.81G>C (p.Val27=)
|
|
|
NM_016042.4(EXOSC3):c.825T>C (p.Ser275=)
|
|
|
NM_016203.4(PRKAG2):c.1005+12C>A
|
|
|
NM_016203.4(PRKAG2):c.1005+13A>C
|
|
|
NM_016203.4(PRKAG2):c.1005+13A>T
|
|
|
NM_016203.4(PRKAG2):c.1005+20A>G
|
|
|
NM_016203.4(PRKAG2):c.1005+8G>C
|
rs1245068890
|
|
NM_016203.4(PRKAG2):c.1006-13_1006-9dup
|
|
|
NM_016203.4(PRKAG2):c.1006-19A>G
|
|
|
NM_016203.4(PRKAG2):c.1006-4G>A
|
|
|
NM_016203.4(PRKAG2):c.102C>G (p.Arg34=)
|
rs1057522970
|
|
NM_016203.4(PRKAG2):c.1032T>C (p.His344=)
|
|
|
NM_016203.4(PRKAG2):c.1044A>C (p.Thr348=)
|
|
|
NM_016203.4(PRKAG2):c.1051+10_1051+11del
|
|
|
NM_016203.4(PRKAG2):c.1051+11T>A
|
|
|
NM_016203.4(PRKAG2):c.1051+14G>T
|
|
|
NM_016203.4(PRKAG2):c.1051+17G>A
|
|
|
NM_016203.4(PRKAG2):c.1052-10A>G
|
rs1032360031
|
|
NM_016203.4(PRKAG2):c.1052-12C>T
|
|
|
NM_016203.4(PRKAG2):c.1052-4A>G
|
rs977597576
|
|
NM_016203.4(PRKAG2):c.105G>T (p.Val35=)
|
|
|
NM_016203.4(PRKAG2):c.1068A>G (p.Glu356=)
|
|
|
NM_016203.4(PRKAG2):c.108C>T (p.His36=)
|
rs753210415
|
|
NM_016203.4(PRKAG2):c.1095T>C (p.Ser365=)
|
|
|
NM_016203.4(PRKAG2):c.1106+14T>A
|
|
|
NM_016203.4(PRKAG2):c.1106+9G>A
|
rs200429988
|
|
NM_016203.4(PRKAG2):c.1106+9G>T
|
rs200429988
|
|
NM_016203.4(PRKAG2):c.1106+9_1106+11del
|
rs759705299
|
|
NM_016203.4(PRKAG2):c.1107-10TC[4]
|
|
|
NM_016203.4(PRKAG2):c.1107-12del
|
|
|
NM_016203.4(PRKAG2):c.1107-14G>C
|
rs201150309
|
|
NM_016203.4(PRKAG2):c.1107-17A>G
|
|
|
NM_016203.4(PRKAG2):c.1107-18T>C
|
rs1563152454
|
|
NM_016203.4(PRKAG2):c.1107-9C>T
|
rs1806877306
|
|
NM_016203.4(PRKAG2):c.1113C>T (p.Phe371=)
|
rs1806873615
|
|
NM_016203.4(PRKAG2):c.111T>C (p.Ile37=)
|
rs144426409
|
|
NM_016203.4(PRKAG2):c.1128C>T (p.Ser376=)
|
|
|
NM_016203.4(PRKAG2):c.114+13034A>T
|
|
|
NM_016203.4(PRKAG2):c.114+14C>G
|
|
|
NM_016203.4(PRKAG2):c.115-18G>A
|
|
|
NM_016203.4(PRKAG2):c.115-20G>A
|
|
|
NM_016203.4(PRKAG2):c.115-9C>T
|
|
|
NM_016203.4(PRKAG2):c.1158C>T (p.Pro386=)
|
rs747247488
|
|
NM_016203.4(PRKAG2):c.1197T>C (p.Leu399=)
|
|
|
NM_016203.4(PRKAG2):c.1200C>G (p.Thr400=)
|
|
|
NM_016203.4(PRKAG2):c.1215C>T (p.Leu405=)
|
rs1584956582
|
|
NM_016203.4(PRKAG2):c.1233+14A>G
|
|
|
NM_016203.4(PRKAG2):c.1233+16C>T
|
rs1226861026
|
|
NM_016203.4(PRKAG2):c.1233+17G>A
|
rs372612064
|
|
NM_016203.4(PRKAG2):c.1233+17G>T
|
|
|
NM_016203.4(PRKAG2):c.1234-13A>G
|
|
|
NM_016203.4(PRKAG2):c.1234-18C>T
|
|
|
NM_016203.4(PRKAG2):c.1260C>T (p.Phe420=)
|
|
|
NM_016203.4(PRKAG2):c.1281G>A (p.Glu427=)
|
|
|
NM_016203.4(PRKAG2):c.1296G>C (p.Thr432=)
|
|
|
NM_016203.4(PRKAG2):c.1305C>T (p.Asn435=)
|
|
|
NM_016203.4(PRKAG2):c.1311C>T (p.Ala437=)
|
rs1258494294
|
|
NM_016203.4(PRKAG2):c.1332C>T (p.Pro444=)
|
|
|
NM_016203.4(PRKAG2):c.1383T>G (p.Pro461=)
|
|
|
NM_016203.4(PRKAG2):c.1399+18T>A
|
|
|
NM_016203.4(PRKAG2):c.1399+8T>C
|
rs750475269
|
|
NM_016203.4(PRKAG2):c.1399+8T>G
|
|
|
NM_016203.4(PRKAG2):c.1399+9G>A
|
rs2150995396
|
|
NM_016203.4(PRKAG2):c.1400-17A>G
|
|
|
NM_016203.4(PRKAG2):c.1400-18T>C
|
|
|
NM_016203.4(PRKAG2):c.1425A>G (p.Lys475=)
|
|
|
NM_016203.4(PRKAG2):c.1437+11T>G
|
|
|
NM_016203.4(PRKAG2):c.1437+17T>C
|
rs780581700
|
|
NM_016203.4(PRKAG2):c.1438-17C>A
|
|
|
NM_016203.4(PRKAG2):c.1438-18T>C
|
|
|
NM_016203.4(PRKAG2):c.1449T>C (p.Ala483=)
|
rs148632949
|
|
NM_016203.4(PRKAG2):c.1464T>C (p.Asn488=)
|
|
|
NM_016203.4(PRKAG2):c.1509G>A (p.Gln503=)
|
rs2150988654
|
|
NM_016203.4(PRKAG2):c.154C>T (p.Leu52=)
|
|
|
NM_016203.4(PRKAG2):c.1551G>A (p.Leu517=)
|
|
|
NM_016203.4(PRKAG2):c.1554G>A (p.Glu518=)
|
|
|
NM_016203.4(PRKAG2):c.1560C>T (p.Ile520=)
|
rs376762359
|
|
NM_016203.4(PRKAG2):c.156G>A (p.Leu52=)
|
rs1169139558
|
|
NM_016203.4(PRKAG2):c.1584+17A>G
|
rs2150988377
|
|
NM_016203.4(PRKAG2):c.1585-19C>G
|
rs1057523714
|
|
NM_016203.4(PRKAG2):c.1587C>G (p.Val529=)
|
rs1563132006
|
|
NM_016203.4(PRKAG2):c.1594C>T (p.Leu532=)
|
|
|
NM_016203.4(PRKAG2):c.1596G>C (p.Leu532=)
|
rs1804717541
|
|
NM_016203.4(PRKAG2):c.1605A>G (p.Val535=)
|
|
|
NM_016203.4(PRKAG2):c.1619G>A (p.Ser540Asn)
|
|
|
NM_016203.4(PRKAG2):c.1629T>A (p.Gly543=)
|
rs1258497596
|
|
NM_016203.4(PRKAG2):c.162T>C (p.Gly54=)
|
|
|
NM_016203.4(PRKAG2):c.1651C>T (p.Leu551=)
|
rs2150971482
|
|
NM_016203.4(PRKAG2):c.1668C>A (p.Leu556=)
|
rs1307794877
|
|
NM_016203.4(PRKAG2):c.1678+11G>T
|
|
|
NM_016203.4(PRKAG2):c.1678+16C>G
|
rs761012285
|
|
NM_016203.4(PRKAG2):c.1678+18G>A
|
|
|
NM_016203.4(PRKAG2):c.1678+18G>T
|
|
|
NM_016203.4(PRKAG2):c.1679-12A>G
|
|
|
NM_016203.4(PRKAG2):c.1679-14C>T
|
rs1803943848
|
|
NM_016203.4(PRKAG2):c.1679-19A>G
|
rs200262620
|
|
NM_016203.4(PRKAG2):c.1679-19A>T
|
rs200262620
|
|
NM_016203.4(PRKAG2):c.1679-7C>T
|
rs554184398
|
|
NM_016203.4(PRKAG2):c.1698A>C (p.Thr566=)
|
|
|
NM_016203.4(PRKAG2):c.1704G>C (p.Thr568=)
|
|
|
NM_016203.4(PRKAG2):c.1707G>A (p.Glu569=)
|
|
|
NM_016203.4(PRKAG2):c.171G>A (p.Lys57=)
|
rs2077016039
|
|
NM_016203.4(PRKAG2):c.186+10C>T
|
rs759913875
|
|
NM_016203.4(PRKAG2):c.186+20A>C
|
rs771538031
|
|
NM_016203.4(PRKAG2):c.187-7dup
|
rs1304458769
|
|
NM_016203.4(PRKAG2):c.187-8T>C
|
rs1220186527
|
|
NM_016203.4(PRKAG2):c.187-9T>C
|
rs1269982225
|
|
NM_016203.4(PRKAG2):c.189G>T (p.Val63=)
|
rs1216653645
|
|
NM_016203.4(PRKAG2):c.192C>T (p.Asp64=)
|
|
|
NM_016203.4(PRKAG2):c.204C>T (p.Gly68=)
|
rs761181432
|
|
NM_016203.4(PRKAG2):c.207G>C (p.Pro69=)
|
|
|
NM_016203.4(PRKAG2):c.207G>T (p.Pro69=)
|
rs144384573
|
|
NM_016203.4(PRKAG2):c.224G>C (p.Gly75Ala)
|
rs199963585
|
|
NM_016203.4(PRKAG2):c.231C>T (p.Phe77=)
|
|
|
NM_016203.4(PRKAG2):c.240C>G (p.Gly80=)
|
rs142482217
|
|
NM_016203.4(PRKAG2):c.248C>T (p.Pro83Leu)
|
rs757900380
|
|
NM_016203.4(PRKAG2):c.249C>T (p.Pro83=)
|
|
|
NM_016203.4(PRKAG2):c.24C>A (p.Thr8=)
|
|
|
NM_016203.4(PRKAG2):c.252G>C (p.Arg84=)
|
rs2076658352
|
|
NM_016203.4(PRKAG2):c.253C>A (p.Pro85Thr)
|
|
|
NM_016203.4(PRKAG2):c.261C>T (p.Ser87=)
|
rs1377817526
|
|
NM_016203.4(PRKAG2):c.273A>T (p.Ala91=)
|
|
|
NM_016203.4(PRKAG2):c.27G>A (p.Lys9=)
|
|
|
NM_016203.4(PRKAG2):c.291C>A (p.Thr97=)
|
|
|
NM_016203.4(PRKAG2):c.303T>C (p.Ser101=)
|
rs774628602
|
|
NM_016203.4(PRKAG2):c.310A>G (p.Thr104Ala)
|
|
|
NM_016203.4(PRKAG2):c.321G>A (p.Pro107=)
|
|
|
NM_016203.4(PRKAG2):c.341C>T (p.Pro114Leu)
|
rs375174733
|
|
NM_016203.4(PRKAG2):c.347G>A (p.Arg116His)
|
rs369471907
|
|
NM_016203.4(PRKAG2):c.351C>T (p.Ser117=)
|
rs1048504272
|
|
NM_016203.4(PRKAG2):c.357A>G (p.Arg119=)
|
rs1586487326
|
|
NM_016203.4(PRKAG2):c.359G>A (p.Arg120His)
|
rs775756069
|
|
NM_016203.4(PRKAG2):c.375G>A (p.Gly125=)
|
rs748041666
|
|
NM_016203.4(PRKAG2):c.381C>T (p.Phe127=)
|
|
|
NM_016203.4(PRKAG2):c.389C>A (p.Ser130Tyr)
|
rs748790230
|
|
NM_016203.4(PRKAG2):c.396A>G (p.Lys132=)
|
|
|
NM_016203.4(PRKAG2):c.399G>A (p.Glu133=)
|
|
|
NM_016203.4(PRKAG2):c.402T>C (p.Ser134=)
|
|
|
NM_016203.4(PRKAG2):c.405C>T (p.Ser135=)
|
rs2151803247
|
|
NM_016203.4(PRKAG2):c.435G>C (p.Gly145=)
|
rs1432408242
|
|
NM_016203.4(PRKAG2):c.441C>A (p.Ile147=)
|
|
|
NM_016203.4(PRKAG2):c.466+11G>C
|
|
|
NM_016203.4(PRKAG2):c.466+19T>G
|
|
|
NM_016203.4(PRKAG2):c.466+8C>T
|
rs958349957
|
|
NM_016203.4(PRKAG2):c.467-10T>G
|
rs727503378
|
|
NM_016203.4(PRKAG2):c.467-16G>C
|
|
|
NM_016203.4(PRKAG2):c.467-19C>G
|
|
|
NM_016203.4(PRKAG2):c.467-41_467-18del
|
|
|
NM_016203.4(PRKAG2):c.471C>A (p.Ser157=)
|
rs141804012
|
|
NM_016203.4(PRKAG2):c.471C>T (p.Ser157=)
|
rs141804012
|
|
NM_016203.4(PRKAG2):c.477C>T (p.Leu159=)
|
rs1585681762
|
|
NM_016203.4(PRKAG2):c.47G>C (p.Ser16Thr)
|
|
|
NM_016203.4(PRKAG2):c.485C>G (p.Ser162Cys)
|
|
|
NM_016203.4(PRKAG2):c.492A>G (p.Ser164=)
|
|
|
NM_016203.4(PRKAG2):c.501C>A (p.Thr167=)
|
|
|
NM_016203.4(PRKAG2):c.510C>G (p.Thr170=)
|
|
|
NM_016203.4(PRKAG2):c.510C>T (p.Thr170=)
|
rs1209179957
|
|
NM_016203.4(PRKAG2):c.516G>A (p.Gln172=)
|
rs1022959045
|
|
NM_016203.4(PRKAG2):c.51C>T (p.Pro17=)
|
|
|
NM_016203.4(PRKAG2):c.528C>G (p.Pro176=)
|
|
|
NM_016203.4(PRKAG2):c.556C>T (p.Arg186Trp)
|
rs200392688
|
|
NM_016203.4(PRKAG2):c.571A>G (p.Ile191Val)
|
rs528201736
|
|
NM_016203.4(PRKAG2):c.575A>G (p.Tyr192Cys)
|
|
|
NM_016203.4(PRKAG2):c.585T>C (p.Ser195=)
|
|
|
NM_016203.4(PRKAG2):c.585T>G (p.Ser195=)
|
|
|
NM_016203.4(PRKAG2):c.591C>A (p.Pro197=)
|
rs587781126
|
|
NM_016203.4(PRKAG2):c.591C>G (p.Pro197=)
|
rs587781126
|
|
NM_016203.4(PRKAG2):c.593C>G (p.Pro198Arg)
|
rs41317142
|
|
NM_016203.4(PRKAG2):c.600A>G (p.Thr200=)
|
|
|
NM_016203.4(PRKAG2):c.609G>A (p.Arg203=)
|
rs2151476806
|
|
NM_016203.4(PRKAG2):c.612C>T (p.Phe204=)
|
rs2151476792
|
|
NM_016203.4(PRKAG2):c.618G>T (p.Pro206=)
|
rs145827515
|
|
NM_016203.4(PRKAG2):c.660G>T (p.Pro220=)
|
rs774279454
|
|
NM_016203.4(PRKAG2):c.66C>G (p.Gly22=)
|
rs730880971
|
|
NM_016203.4(PRKAG2):c.684+10G>C
|
|
|
NM_016203.4(PRKAG2):c.684+14C>G
|
|
|
NM_016203.4(PRKAG2):c.684+19G>A
|
|
|
NM_016203.4(PRKAG2):c.685-19TCC[3]
|
|
|
NM_016203.4(PRKAG2):c.685-19TCC[5]
|
rs1265462032
|
|
NM_016203.4(PRKAG2):c.685-20_685-18dup
|
|
|
NM_016203.4(PRKAG2):c.685-5C>T
|
rs779931367
|
|
NM_016203.4(PRKAG2):c.685-6C>T
|
rs772481251
|
|
NM_016203.4(PRKAG2):c.685-8C>T
|
rs397517279
|
|
NM_016203.4(PRKAG2):c.685-9C>A
|
|
|
NM_016203.4(PRKAG2):c.685-9C>T
|
rs1824696243
|
|
NM_016203.4(PRKAG2):c.690G>T (p.Ala230=)
|
rs756008063
|
|
NM_016203.4(PRKAG2):c.693G>A (p.Leu231=)
|
rs931540862
|
|
NM_016203.4(PRKAG2):c.711C>G (p.Pro237=)
|
|
|
NM_016203.4(PRKAG2):c.714G>C (p.Ala238=)
|
|
|
NM_016203.4(PRKAG2):c.720C>G (p.Ala240=)
|
rs752351250
|
|
NM_016203.4(PRKAG2):c.754+10C>A
|
|
|
NM_016203.4(PRKAG2):c.754+10C>T
|
rs1162430810
|
|
NM_016203.4(PRKAG2):c.754+11C>T
|
|
|
NM_016203.4(PRKAG2):c.754+17C>A
|
rs772286759
|
|
NM_016203.4(PRKAG2):c.754+17C>T
|
|
|
NM_016203.4(PRKAG2):c.754+18G>A
|
|
|
NM_016203.4(PRKAG2):c.754+19C>G
|
rs1824623715
|
|
NM_016203.4(PRKAG2):c.754+19_754+24del
|
rs1287642826
|
|
NM_016203.4(PRKAG2):c.755-10T>C
|
|
|
NM_016203.4(PRKAG2):c.755-18T>C
|
|
|
NM_016203.4(PRKAG2):c.755-19T>C
|
|
|
NM_016203.4(PRKAG2):c.755-7C>A
|
|
|
NM_016203.4(PRKAG2):c.762A>G (p.Glu254=)
|
rs1158352901
|
|
NM_016203.4(PRKAG2):c.777T>C (p.Gly259=)
|
|
|
NM_016203.4(PRKAG2):c.780T>A (p.Val260=)
|
rs2151134876
|
|
NM_016203.4(PRKAG2):c.798G>A (p.Arg266=)
|
rs2151134700
|
|
NM_016203.4(PRKAG2):c.807G>A (p.Lys269=)
|
rs727504618
|
|
NM_016203.4(PRKAG2):c.813T>C (p.Tyr271=)
|
|
|
NM_016203.4(PRKAG2):c.816C>T (p.Asp272=)
|
rs2151134561
|
|
NM_016203.4(PRKAG2):c.846C>T (p.Val282=)
|
rs1563213791
|
|
NM_016203.4(PRKAG2):c.852T>C (p.Asp284=)
|
|
|
NM_016203.4(PRKAG2):c.858A>T (p.Thr286=)
|
rs763018098
|
|
NM_016203.4(PRKAG2):c.861A>G (p.Leu287=)
|
rs2151134396
|
|
NM_016203.4(PRKAG2):c.864+10C>G
|
rs1554480836
|
|
NM_016203.4(PRKAG2):c.864+10C>T
|
|
|
NM_016203.4(PRKAG2):c.864+19C>T
|
|
|
NM_016203.4(PRKAG2):c.864+20A>T
|
|
|
NM_016203.4(PRKAG2):c.865-14del
|
rs750383082
|
|
NM_016203.4(PRKAG2):c.865-7T>G
|
rs1433226385
|
|
NM_016203.4(PRKAG2):c.876C>G (p.Ala292=)
|
rs781760634
|
|
NM_016203.4(PRKAG2):c.879C>T (p.Phe293=)
|
|
|
NM_016203.4(PRKAG2):c.87G>A (p.Lys29=)
|
rs2080410736
|
|
NM_016203.4(PRKAG2):c.885T>A (p.Ala295=)
|
rs1425474186
|
|
NM_016203.4(PRKAG2):c.900T>A (p.Gly300=)
|
rs1334497430
|
|
NM_016203.4(PRKAG2):c.904C>A (p.Arg302=)
|
|
|
NM_016203.4(PRKAG2):c.909A>C (p.Ala303=)
|
rs2151043022
|
|
NM_016203.4(PRKAG2):c.912G>A (p.Ala304=)
|
rs145029525
|
|
NM_016203.4(PRKAG2):c.912G>T (p.Ala304=)
|
rs145029525
|
|
NM_016203.4(PRKAG2):c.915A>C (p.Pro305=)
|
|
|
NM_016203.4(PRKAG2):c.915A>T (p.Pro305=)
|
rs998511488
|
|
NM_016203.4(PRKAG2):c.916C>T (p.Leu306=)
|
|
|
NM_016203.4(PRKAG2):c.924G>A (p.Glu308=)
|
|
|
NM_016203.4(PRKAG2):c.946+10G>A
|
|
|
NM_016203.4(PRKAG2):c.946+15C>T
|
|
|
NM_016203.4(PRKAG2):c.946+7A>G
|
rs2151042729
|
|
NM_016203.4(PRKAG2):c.946+8G>A
|
rs2151042715
|
|
NM_016203.4(PRKAG2):c.946+9T>C
|
|
|
NM_016203.4(PRKAG2):c.947-11C>G
|
rs1808531347
|
|
NM_016203.4(PRKAG2):c.947-15A>C
|
|
|
NM_016203.4(PRKAG2):c.947-18T>C
|
|
|
NM_016203.4(PRKAG2):c.947-19A>G
|
|
|
NM_016203.4(PRKAG2):c.947-7G>A
|
rs1554464198
|
|
NM_016203.4(PRKAG2):c.947-7G>C
|
|
|
NM_016203.4(PRKAG2):c.993T>C (p.Tyr331=)
|
rs397517284
|
|
NM_016203.4(PRKAG2):c.9C>T (p.Ser3=)
|
|
|
NM_016219.5(MAN1B1):c.1011G>A (p.Gly337=)
|
|
|
NM_016219.5(MAN1B1):c.1020G>T (p.Leu340=)
|
|
|
NM_016219.5(MAN1B1):c.1029C>T (p.Tyr343=)
|
|
|
NM_016219.5(MAN1B1):c.102T>C (p.Thr34=)
|
|
|
NM_016219.5(MAN1B1):c.1050C>G (p.Leu350=)
|
|
|
NM_016219.5(MAN1B1):c.1066-10C>T
|
|
|
NM_016219.5(MAN1B1):c.1066-15C>G
|
|
|
NM_016219.5(MAN1B1):c.1066-18A>G
|
|
|
NM_016219.5(MAN1B1):c.1066-18A>T
|
|
|
NM_016219.5(MAN1B1):c.1084C>T (p.Leu362=)
|
|
|
NM_016219.5(MAN1B1):c.1137C>T (p.Ile379=)
|
|
|
NM_016219.5(MAN1B1):c.1194G>A (p.Val398=)
|
rs2131023045
|
|
NM_016219.5(MAN1B1):c.120GCC[6] (p.Pro45dup)
|
rs538804415
|
|
NM_016219.5(MAN1B1):c.1254+13G>C
|
|
|
NM_016219.5(MAN1B1):c.1254+14C>T
|
|
|
NM_016219.5(MAN1B1):c.1254+15T>C
|
|
|
NM_016219.5(MAN1B1):c.1254+9G>A
|
|
|
NM_016219.5(MAN1B1):c.1255-13C>G
|
|
|
NM_016219.5(MAN1B1):c.1255-4G>A
|
rs201918928
|
|
NM_016219.5(MAN1B1):c.1255-9C>T
|
|
|
NM_016219.5(MAN1B1):c.1260A>C (p.Ala420=)
|
|
|
NM_016219.5(MAN1B1):c.1284C>T (p.Ile428=)
|
rs779030233
|
|
NM_016219.5(MAN1B1):c.1314G>C (p.Leu438=)
|
|
|
NM_016219.5(MAN1B1):c.1344C>T (p.Gly448=)
|
|
|
NM_016219.5(MAN1B1):c.1347C>T (p.Leu449=)
|
|
|
NM_016219.5(MAN1B1):c.1353C>T (p.Thr451=)
|
|
|
NM_016219.5(MAN1B1):c.1371G>A (p.Thr457=)
|
|
|
NM_016219.5(MAN1B1):c.1377C>T (p.Gly459=)
|
|
|
NM_016219.5(MAN1B1):c.1443A>G (p.Thr481=)
|
|
|
NM_016219.5(MAN1B1):c.1445+15G>A
|
|
|
NM_016219.5(MAN1B1):c.1445+31_1445+79dup
|
rs757502368
|
|
NM_016219.5(MAN1B1):c.1445+9C>T
|
|
|
NM_016219.5(MAN1B1):c.1446-10G>C
|
|
|
NM_016219.5(MAN1B1):c.1446-19T>C
|
|
|
NM_016219.5(MAN1B1):c.1446-4A>G
|
|
|
NM_016219.5(MAN1B1):c.1462G>A (p.Val488Met)
|
|
|
NM_016219.5(MAN1B1):c.1488G>C (p.Thr496=)
|
|
|
NM_016219.5(MAN1B1):c.1566+11C>G
|
|
|
NM_016219.5(MAN1B1):c.1566+14C>A
|
|
|
NM_016219.5(MAN1B1):c.1566+15G>A
|
|
|
NM_016219.5(MAN1B1):c.1566+20C>T
|
|
|
NM_016219.5(MAN1B1):c.1567-13C>T
|
|
|
NM_016219.5(MAN1B1):c.1596G>A (p.Thr532=)
|
|
|
NM_016219.5(MAN1B1):c.159G>A (p.Thr53=)
|
rs774835139
|
|
NM_016219.5(MAN1B1):c.1603C>T (p.Leu535=)
|
|
|
NM_016219.5(MAN1B1):c.1608C>T (p.Gly536=)
|
|
|
NM_016219.5(MAN1B1):c.1623G>C (p.Leu541=)
|
|
|
NM_016219.5(MAN1B1):c.1707C>T (p.Pro569=)
|
|
|
NM_016219.5(MAN1B1):c.1740G>A (p.Pro580=)
|
|
|
NM_016219.5(MAN1B1):c.1764+14T>C
|
|
|
NM_016219.5(MAN1B1):c.1764+15G>A
|
rs2131131764
|
|
NM_016219.5(MAN1B1):c.1764+17G>A
|
|
|
NM_016219.5(MAN1B1):c.1764+2TGGGCC[3]
|
|
|
NM_016219.5(MAN1B1):c.1896+16C>T
|
|
|
NM_016219.5(MAN1B1):c.1896+17G>C
|
|
|
NM_016219.5(MAN1B1):c.1896+8C>T
|
|
|
NM_016219.5(MAN1B1):c.1896+9C>T
|
|
|
NM_016219.5(MAN1B1):c.1897-5C>A
|
|
|
NM_016219.5(MAN1B1):c.1953G>A (p.Glu651=)
|
rs1244821111
|
|
NM_016219.5(MAN1B1):c.1992G>T (p.Thr664=)
|
|
|
NM_016219.5(MAN1B1):c.2041C>T (p.Leu681=)
|
|
|
NM_016219.5(MAN1B1):c.219+13C>T
|
|
|
NM_016219.5(MAN1B1):c.219+16G>C
|
|
|
NM_016219.5(MAN1B1):c.219+20G>A
|
|
|
NM_016219.5(MAN1B1):c.219+9C>A
|
|
|
NM_016219.5(MAN1B1):c.220-10C>T
|
|
|
NM_016219.5(MAN1B1):c.220-7C>G
|
|
|
NM_016219.5(MAN1B1):c.220-9C>T
|
|
|
NM_016219.5(MAN1B1):c.329-14C>T
|
|
|
NM_016219.5(MAN1B1):c.36C>G (p.Leu12=)
|
|
|
NM_016219.5(MAN1B1):c.36C>T (p.Leu12=)
|
|
|
NM_016219.5(MAN1B1):c.375T>C (p.Ile125=)
|
|
|
NM_016219.5(MAN1B1):c.402C>T (p.Pro134=)
|
|
|
NM_016219.5(MAN1B1):c.426G>C (p.Ala142=)
|
rs199738190
|
|
NM_016219.5(MAN1B1):c.42C>T (p.Ser14=)
|
|
|
NM_016219.5(MAN1B1):c.525A>G (p.Gln175=)
|
|
|
NM_016219.5(MAN1B1):c.540G>A (p.Gly180=)
|
|
|
NM_016219.5(MAN1B1):c.564G>A (p.Arg188=)
|
rs1554752187
|
|
NM_016219.5(MAN1B1):c.620+10G>T
|
|
|
NM_016219.5(MAN1B1):c.620+12A>G
|
|
|
NM_016219.5(MAN1B1):c.620+20C>G
|
|
|
NM_016219.5(MAN1B1):c.621-14C>T
|
|
|
NM_016219.5(MAN1B1):c.621-4G>T
|
|
|
NM_016219.5(MAN1B1):c.645T>C (p.Pro215=)
|
|
|
NM_016219.5(MAN1B1):c.708G>C (p.Pro236=)
|
rs536127999
|
|
NM_016219.5(MAN1B1):c.730+13C>G
|
|
|
NM_016219.5(MAN1B1):c.730+16C>T
|
|
|
NM_016219.5(MAN1B1):c.730+8C>T
|
|
|
NM_016219.5(MAN1B1):c.731-16C>T
|
|
|
NM_016219.5(MAN1B1):c.731-17T>C
|
rs1164752378
|
|
NM_016219.5(MAN1B1):c.731-18CT[2]
|
|
|
NM_016219.5(MAN1B1):c.731-8C>A
|
rs375902720
|
|
NM_016219.5(MAN1B1):c.765C>T (p.Asp255=)
|
|
|
NM_016219.5(MAN1B1):c.78G>C (p.Gly26=)
|
|
|
NM_016219.5(MAN1B1):c.816C>T (p.Asp272=)
|
|
|
NM_016219.5(MAN1B1):c.879C>T (p.Asp293=)
|
|
|
NM_016219.5(MAN1B1):c.906T>C (p.Gly302=)
|
|
|
NM_016219.5(MAN1B1):c.916+10G>A
|
|
|
NM_016219.5(MAN1B1):c.916+14T>C
|
|
|
NM_016219.5(MAN1B1):c.969C>T (p.Asp323=)
|
|
|
NM_016219.5(MAN1B1):c.9C>G (p.Ala3=)
|
rs752045534
|
|
NM_016219.5(MAN1B1):c.9C>T (p.Ala3=)
|
|
|
NM_021957.4(GYS2):c.1062+13T>C
|
|
|
NM_021957.4(GYS2):c.1176T>C (p.Val392=)
|
|
|
NM_021957.4(GYS2):c.121+20del
|
rs780527297
|
|
NM_021957.4(GYS2):c.1229+11G>C
|
|
|
NM_021957.4(GYS2):c.1229+20_1229+26del
|
|
|
NM_021957.4(GYS2):c.1245C>T (p.Asp415=)
|
|
|
NM_021957.4(GYS2):c.1335G>A (p.Thr445=)
|
|
|
NM_021957.4(GYS2):c.1422+7C>A
|
rs1591788895
|
|
NM_021957.4(GYS2):c.1542T>C (p.Tyr514=)
|
rs2136849748
|
|
NM_021957.4(GYS2):c.1549+12G>A
|
|
|
NM_021957.4(GYS2):c.1550-12T>C
|
rs2136842291
|
|
NM_021957.4(GYS2):c.174A>G (p.Glu58=)
|
|
|
NM_021957.4(GYS2):c.294T>C (p.His98=)
|
|
|
NM_021957.4(GYS2):c.36G>A (p.Leu12=)
|
rs773596311
|
|
NM_021957.4(GYS2):c.420C>G (p.Val140=)
|
|
|
NM_021957.4(GYS2):c.495+10A>G
|
|
|
NM_021957.4(GYS2):c.513T>C (p.Asp171=)
|
|
|
NM_021957.4(GYS2):c.823+18A>G
|
|
|
NM_021957.4(GYS2):c.840C>T (p.Asn280=)
|
|
|
NM_021957.4(GYS2):c.941+20A>G
|
|
|
NM_022042.4(SLC26A1):c.*1030G>A
|
rs538533905
|
|
NM_022042.4(SLC26A1):c.*874C>A
|
rs775172497
|
|
NM_022042.4(SLC26A1):c.*874C>G
|
rs775172497
|
|
NM_024989.4(PGAP1):c.1062G>A (p.Val354=)
|
rs1576164995
|
|
NM_024989.4(PGAP1):c.1089+16A>G
|
|
|
NM_024989.4(PGAP1):c.1113A>G (p.Thr371=)
|
|
|
NM_024989.4(PGAP1):c.1173+10T>C
|
rs767930615
|
|
NM_024989.4(PGAP1):c.1182T>C (p.Asn394=)
|
|
|
NM_024989.4(PGAP1):c.1220+10_1220+11del
|
rs2125812459
|
|
NM_024989.4(PGAP1):c.1273-18_1273-16del
|
rs1446681212
|
|
NM_024989.4(PGAP1):c.129T>C (p.Phe43=)
|
|
|
NM_024989.4(PGAP1):c.1351-22_1351-19del
|
|
|
NM_024989.4(PGAP1):c.1362T>C (p.Asp454=)
|
|
|
NM_024989.4(PGAP1):c.1426+17T>A
|
|
|
NM_024989.4(PGAP1):c.1458A>C (p.Thr486=)
|
|
|
NM_024989.4(PGAP1):c.148-9T>A
|
|
|
NM_024989.4(PGAP1):c.1494T>C (p.Phe498=)
|
rs1553601067
|
|
NM_024989.4(PGAP1):c.1500+14A>T
|
|
|
NM_024989.4(PGAP1):c.1501-18G>A
|
|
|
NM_024989.4(PGAP1):c.1553-16T>A
|
|
|
NM_024989.4(PGAP1):c.1617A>G (p.Ala539=)
|
|
|
NM_024989.4(PGAP1):c.1621G>A (p.Ala541Thr)
|
|
|
NM_024989.4(PGAP1):c.1743T>A (p.Thr581=)
|
|
|
NM_024989.4(PGAP1):c.1755A>G (p.Gln585=)
|
|
|
NM_024989.4(PGAP1):c.1862-19A>T
|
rs2125779528
|
|
NM_024989.4(PGAP1):c.1869C>T (p.Cys623=)
|
|
|
NM_024989.4(PGAP1):c.186C>T (p.Pro62=)
|
|
|
NM_024989.4(PGAP1):c.189A>G (p.Ala63=)
|
|
|
NM_024989.4(PGAP1):c.1953-14T>G
|
|
|
NM_024989.4(PGAP1):c.195G>A (p.Glu65=)
|
|
|
NM_024989.4(PGAP1):c.2040C>T (p.Pro680=)
|
|
|
NM_024989.4(PGAP1):c.2137C>T (p.Leu713=)
|
|
|
NM_024989.4(PGAP1):c.2199C>T (p.Pro733=)
|
rs1700545839
|
|
NM_024989.4(PGAP1):c.2286+11T>C
|
|
|
NM_024989.4(PGAP1):c.2286+13A>G
|
|
|
NM_024989.4(PGAP1):c.2287-12T>C
|
|
|
NM_024989.4(PGAP1):c.2287-20G>A
|
|
|
NM_024989.4(PGAP1):c.2301A>G (p.Gln767=)
|
|
|
NM_024989.4(PGAP1):c.2338-16C>T
|
|
|
NM_024989.4(PGAP1):c.2352T>C (p.Ser784=)
|
|
|
NM_024989.4(PGAP1):c.2526-4A>G
|
|
|
NM_024989.4(PGAP1):c.2630+20C>A
|
|
|
NM_024989.4(PGAP1):c.2631-7T>C
|
|
|
NM_024989.4(PGAP1):c.2709T>C (p.Tyr903=)
|
|
|
NM_024989.4(PGAP1):c.2724T>C (p.Phe908=)
|
rs112469537
|
|
NM_024989.4(PGAP1):c.301+10_301+12del
|
|
|
NM_024989.4(PGAP1):c.301+14G>A
|
|
|
NM_024989.4(PGAP1):c.301+17G>T
|
rs371993991
|
|
NM_024989.4(PGAP1):c.301+7C>T
|
|
|
NM_024989.4(PGAP1):c.302-17A>G
|
rs2125837560
|
|
NM_024989.4(PGAP1):c.477+12G>A
|
|
|
NM_024989.4(PGAP1):c.478-15G>T
|
|
|
NM_024989.4(PGAP1):c.492T>G (p.Ala164=)
|
rs1246230813
|
|
NM_024989.4(PGAP1):c.573T>C (p.His191=)
|
|
|
NM_024989.4(PGAP1):c.630A>G (p.Pro210=)
|
rs1299716452
|
|
NM_024989.4(PGAP1):c.649+8C>G
|
|
|
NM_024989.4(PGAP1):c.684A>G (p.Leu228=)
|
|
|
NM_024989.4(PGAP1):c.705A>G (p.Leu235=)
|
rs2125827476
|
|
NM_024989.4(PGAP1):c.807+14A>G
|
|
|
NM_024989.4(PGAP1):c.822T>G (p.Pro274=)
|
|
|
NM_024989.4(PGAP1):c.860+16T>C
|
|
|
NM_024989.4(PGAP1):c.891A>C (p.Arg297=)
|
|
|
NM_024989.4(PGAP1):c.915T>C (p.Ala305=)
|
|
|
NM_024989.4(PGAP1):c.927+9T>A
|
|
|
NM_024989.4(PGAP1):c.928-17A>G
|
rs750038255
|
|
NM_024989.4(PGAP1):c.928-20T>G
|
|
|
NM_024989.4(PGAP1):c.951A>G (p.Lys317=)
|
|
|
NM_024989.4(PGAP1):c.984C>T (p.His328=)
|
|
|
NM_031229.4(RBCK1):c.1006C>T (p.Leu336=)
|
rs2122282595
|
|
NM_031229.4(RBCK1):c.1009C>T (p.Leu337=)
|
rs2122282623
|
|
NM_031229.4(RBCK1):c.100C>T (p.Leu34=)
|
rs1440300058
|
|
NM_031229.4(RBCK1):c.1017G>A (p.Arg339=)
|
rs2122282701
|
|
NM_031229.4(RBCK1):c.1029+7C>T
|
rs2122282889
|
|
NM_031229.4(RBCK1):c.1029+8C>T
|
|
|
NM_031229.4(RBCK1):c.1030-12G>A
|
|
|
NM_031229.4(RBCK1):c.1030-16C>T
|
|
|
NM_031229.4(RBCK1):c.1044G>A (p.Glu348=)
|
rs2122324309
|
|
NM_031229.4(RBCK1):c.1065C>T (p.Asp355=)
|
|
|
NM_031229.4(RBCK1):c.1068G>C (p.Leu356=)
|
|
|
NM_031229.4(RBCK1):c.1119C>A (p.Thr373=)
|
|
|
NM_031229.4(RBCK1):c.1149G>A (p.Glu383=)
|
|
|
NM_031229.4(RBCK1):c.1170C>G (p.Thr390=)
|
|
|
NM_031229.4(RBCK1):c.1176T>C (p.Pro392=)
|
|
|
NM_031229.4(RBCK1):c.1188C>T (p.His396=)
|
rs766618284
|
|
NM_031229.4(RBCK1):c.1206C>T (p.Cys402=)
|
|
|
NM_031229.4(RBCK1):c.1209+11C>G
|
|
|
NM_031229.4(RBCK1):c.1209+8C>T
|
|
|
NM_031229.4(RBCK1):c.1210-19A>G
|
|
|
NM_031229.4(RBCK1):c.1210-7G>A
|
|
|
NM_031229.4(RBCK1):c.1210-8C>T
|
|
|
NM_031229.4(RBCK1):c.1221G>A (p.Glu407=)
|
rs2122333198
|
|
NM_031229.4(RBCK1):c.1239G>A (p.Glu413=)
|
|
|
NM_031229.4(RBCK1):c.12G>A (p.Lys4=)
|
|
|
NM_031229.4(RBCK1):c.1305G>A (p.Leu435=)
|
|
|
NM_031229.4(RBCK1):c.1308+12A>G
|
|
|
NM_031229.4(RBCK1):c.1308+13C>T
|
|
|
NM_031229.4(RBCK1):c.1308+7C>T
|
rs2122334650
|
|
NM_031229.4(RBCK1):c.1309-14C>G
|
|
|
NM_031229.4(RBCK1):c.132A>G (p.Gln44=)
|
rs145132343
|
|
NM_031229.4(RBCK1):c.1332C>G (p.Ala444=)
|
|
|
NM_031229.4(RBCK1):c.1344C>T (p.Pro448=)
|
rs756825937
|
|
NM_031229.4(RBCK1):c.1377C>T (p.Gly459=)
|
rs2122338340
|
|
NM_031229.4(RBCK1):c.1383C>T (p.Asp461=)
|
|
|
NM_031229.4(RBCK1):c.1410C>A (p.Thr470=)
|
|
|
NM_031229.4(RBCK1):c.141T>C (p.Pro47=)
|
|
|
NM_031229.4(RBCK1):c.1431G>A (p.Lys477=)
|
rs2122338869
|
|
NM_031229.4(RBCK1):c.1434C>T (p.Gly478=)
|
rs767016233
|
|
NM_031229.4(RBCK1):c.1452+15G>T
|
|
|
NM_031229.4(RBCK1):c.1473G>C (p.Gly491=)
|
|
|
NM_031229.4(RBCK1):c.1482C>T (p.Arg494=)
|
|
|
NM_031229.4(RBCK1):c.1488G>A (p.Arg496=)
|
rs2122349257
|
|
NM_031229.4(RBCK1):c.1530C>T (p.His510=)
|
rs1002077278
|
|
NM_031229.4(RBCK1):c.156G>A (p.Thr52=)
|
|
|
NM_031229.4(RBCK1):c.167+10G>A
|
|
|
NM_031229.4(RBCK1):c.167+9T>C
|
|
|
NM_031229.4(RBCK1):c.168-14G>C
|
|
|
NM_031229.4(RBCK1):c.168-20G>A
|
|
|
NM_031229.4(RBCK1):c.169C>T (p.Leu57=)
|
|
|
NM_031229.4(RBCK1):c.186G>A (p.Glu62=)
|
|
|
NM_031229.4(RBCK1):c.22+11G>A
|
|
|
NM_031229.4(RBCK1):c.22+17G>C
|
|
|
NM_031229.4(RBCK1):c.222A>T (p.Thr74=)
|
|
|
NM_031229.4(RBCK1):c.228C>G (p.Arg76=)
|
rs2122225668
|
|
NM_031229.4(RBCK1):c.240A>G (p.Thr80=)
|
|
|
NM_031229.4(RBCK1):c.261+14C>T
|
|
|
NM_031229.4(RBCK1):c.261+15G>A
|
rs11698154
|
|
NM_031229.4(RBCK1):c.261+20G>A
|
|
|
NM_031229.4(RBCK1):c.262-17C>G
|
|
|
NM_031229.4(RBCK1):c.262-6C>A
|
|
|
NM_031229.4(RBCK1):c.330C>T (p.Asp110=)
|
|
|
NM_031229.4(RBCK1):c.348C>G (p.Ser116=)
|
|
|
NM_031229.4(RBCK1):c.354G>A (p.Gly118=)
|
rs560528051
|
|
NM_031229.4(RBCK1):c.366T>C (p.Asn122=)
|
rs2122227710
|
|
NM_031229.4(RBCK1):c.372C>T (p.Asp124=)
|
|
|
NM_031229.4(RBCK1):c.441G>A (p.Arg147=)
|
|
|
NM_031229.4(RBCK1):c.447G>A (p.Leu149=)
|
|
|
NM_031229.4(RBCK1):c.450G>T (p.Arg150=)
|
rs2016096112
|
|
NM_031229.4(RBCK1):c.456G>A (p.Leu152=)
|
|
|
NM_031229.4(RBCK1):c.460+12C>T
|
|
|
NM_031229.4(RBCK1):c.460+13C>T
|
|
|
NM_031229.4(RBCK1):c.460+14_460+47del
|
rs2122228766
|
|
NM_031229.4(RBCK1):c.460+15T>C
|
|
|
NM_031229.4(RBCK1):c.461-12C>G
|
|
|
NM_031229.4(RBCK1):c.461-8C>A
|
|
|
NM_031229.4(RBCK1):c.462T>C (p.Asp154=)
|
|
|
NM_031229.4(RBCK1):c.483G>A (p.Thr161=)
|
|
|
NM_031229.4(RBCK1):c.492G>A (p.Pro164=)
|
rs765582031
|
|
NM_031229.4(RBCK1):c.492G>T (p.Pro164=)
|
|
|
NM_031229.4(RBCK1):c.513C>T (p.Gly171=)
|
rs777854248
|
|
NM_031229.4(RBCK1):c.516C>T (p.Pro172=)
|
|
|
NM_031229.4(RBCK1):c.525C>T (p.Pro175=)
|
|
|
NM_031229.4(RBCK1):c.528G>T (p.Gly176=)
|
|
|
NM_031229.4(RBCK1):c.531C>A (p.Val177=)
|
|
|
NM_031229.4(RBCK1):c.531C>G (p.Val177=)
|
rs375018967
|
|
NM_031229.4(RBCK1):c.543C>T (p.Pro181=)
|
rs377036635
|
|
NM_031229.4(RBCK1):c.549G>C (p.Arg183=)
|
rs1029755805
|
|
NM_031229.4(RBCK1):c.549G>T (p.Arg183=)
|
rs1029755805
|
|
NM_031229.4(RBCK1):c.570T>G (p.Pro190=)
|
|
|
NM_031229.4(RBCK1):c.582+17C>T
|
|
|
NM_031229.4(RBCK1):c.582+9_582+15dup
|
|
|
NM_031229.4(RBCK1):c.594G>A (p.Gln198=)
|
|
|
NM_031229.4(RBCK1):c.600C>T (p.Pro200=)
|
rs561932073
|
|
NM_031229.4(RBCK1):c.606C>T (p.Cys202=)
|
|
|
NM_031229.4(RBCK1):c.621G>A (p.Lys207=)
|
rs1394794776
|
|
NM_031229.4(RBCK1):c.627G>A (p.Thr209=)
|
|
|
NM_031229.4(RBCK1):c.633T>C (p.Pro211=)
|
|
|
NM_031229.4(RBCK1):c.657G>A (p.Ala219=)
|
|
|
NM_031229.4(RBCK1):c.672C>T (p.Tyr224=)
|
|
|
NM_031229.4(RBCK1):c.687A>G (p.Ser229=)
|
rs2122245613
|
|
NM_031229.4(RBCK1):c.696C>A (p.Pro232=)
|
|
|
NM_031229.4(RBCK1):c.696C>G (p.Pro232=)
|
rs549369680
|
|
NM_031229.4(RBCK1):c.709C>A (p.Arg237=)
|
|
|
NM_031229.4(RBCK1):c.714G>A (p.Ala238=)
|
|
|
NM_031229.4(RBCK1):c.714G>T (p.Ala238=)
|
|
|
NM_031229.4(RBCK1):c.717C>T (p.Arg239=)
|
|
|
NM_031229.4(RBCK1):c.720G>A (p.Leu240=)
|
|
|
NM_031229.4(RBCK1):c.723G>A (p.Ala241=)
|
rs762123098
|
|
NM_031229.4(RBCK1):c.744T>A (p.Arg248=)
|
|
|
NM_031229.4(RBCK1):c.756+10A>G
|
|
|
NM_031229.4(RBCK1):c.757-11C>T
|
|
|
NM_031229.4(RBCK1):c.757-13C>T
|
|
|
NM_031229.4(RBCK1):c.757-16C>T
|
|
|
NM_031229.4(RBCK1):c.757-20G>A
|
|
|
NM_031229.4(RBCK1):c.757-20_757-8del
|
rs746640446
|
|
NM_031229.4(RBCK1):c.757-4C>T
|
|
|
NM_031229.4(RBCK1):c.757-7T>C
|
|
|
NM_031229.4(RBCK1):c.831G>A (p.Thr277=)
|
|
|
NM_031229.4(RBCK1):c.837C>T (p.Pro279=)
|
rs1433038293
|
|
NM_031229.4(RBCK1):c.840C>T (p.Ala280=)
|
|
|
NM_031229.4(RBCK1):c.867G>A (p.Leu289=)
|
|
|
NM_031229.4(RBCK1):c.873C>A (p.Pro291=)
|
|
|
NM_031229.4(RBCK1):c.882C>A (p.Ala294=)
|
|
|
NM_031229.4(RBCK1):c.891G>A (p.Leu297=)
|
|
|
NM_031229.4(RBCK1):c.900T>C (p.Cys300=)
|
|
|
NM_031229.4(RBCK1):c.903G>T (p.Leu301=)
|
rs1228337215
|
|
NM_031229.4(RBCK1):c.909C>T (p.Thr303=)
|
|
|
NM_031229.4(RBCK1):c.917+12A>G
|
|
|
NM_031229.4(RBCK1):c.917+17C>T
|
|
|
NM_031229.4(RBCK1):c.917+19C>A
|
|
|
NM_031229.4(RBCK1):c.917+19C>G
|
|
|
NM_031229.4(RBCK1):c.918-14C>T
|
|
|
NM_031229.4(RBCK1):c.918-16C>G
|
|
|
NM_031229.4(RBCK1):c.918-18T>G
|
|
|
NM_031229.4(RBCK1):c.918-19_918-18del
|
rs1440664609
|
|
NM_031229.4(RBCK1):c.918-7C>G
|
|
|
NM_031229.4(RBCK1):c.927G>A (p.Leu309=)
|
|
|
NM_031229.4(RBCK1):c.933C>T (p.Gly311=)
|
rs2016473810
|
|
NM_031229.4(RBCK1):c.936C>T (p.Thr312=)
|
|
|
NM_031229.4(RBCK1):c.942C>T (p.Arg314=)
|
|
|
NM_031229.4(RBCK1):c.948C>T (p.Ser316=)
|
|
|
NM_031229.4(RBCK1):c.981C>T (p.Asp327=)
|
rs2122282048
|
|
NM_031229.4(RBCK1):c.993G>T (p.Ser331=)
|
rs750664557
|
|
NM_031229.4(RBCK1):c.996C>T (p.Cys332=)
|
|
|
NM_031229.4(RBCK1):c.999G>A (p.Ser333=)
|
rs146181107
|
|
NM_033159.4(HYAL1):c.1005C>T (p.Ala335=)
|
|
|
NM_033159.4(HYAL1):c.1014G>A (p.Glu338=)
|
|
|
NM_033159.4(HYAL1):c.1017T>C (p.Tyr339=)
|
rs2109302970
|
|
NM_033159.4(HYAL1):c.102C>G (p.Thr34=)
|
rs373591585
|
|
NM_033159.4(HYAL1):c.102C>T (p.Thr34=)
|
rs373591585
|
|
NM_033159.4(HYAL1):c.1030C>T (p.Leu344=)
|
rs1239924466
|
|
NM_033159.4(HYAL1):c.1038C>G (p.Pro346=)
|
|
|
NM_033159.4(HYAL1):c.1047G>A (p.Leu349=)
|
rs782279681
|
|
NM_033159.4(HYAL1):c.1056C>T (p.Thr352=)
|
|
|
NM_033159.4(HYAL1):c.1071C>T (p.Leu357=)
|
|
|
NM_033159.4(HYAL1):c.1084C>T (p.Leu362=)
|
rs1702098144
|
|
NM_033159.4(HYAL1):c.1110C>A (p.Val370=)
|
|
|
NM_033159.4(HYAL1):c.1110C>G (p.Val370=)
|
|
|
NM_033159.4(HYAL1):c.111T>C (p.Asn37=)
|
|
|
NM_033159.4(HYAL1):c.1125C>T (p.His375=)
|
|
|
NM_033159.4(HYAL1):c.1137C>T (p.Leu379=)
|
|
|
NM_033159.4(HYAL1):c.1155C>T (p.Ala385=)
|
|
|
NM_033159.4(HYAL1):c.1173C>T (p.Leu391=)
|
rs2109302277
|
|
NM_033159.4(HYAL1):c.1176G>A (p.Thr392=)
|
rs587680396
|
|
NM_033159.4(HYAL1):c.1176G>C (p.Thr392=)
|
rs587680396
|
|
NM_033159.4(HYAL1):c.1197C>T (p.Ser399=)
|
rs1553712441
|
|
NM_033159.4(HYAL1):c.1198C>T (p.Leu400=)
|
rs989449756
|
|
NM_033159.4(HYAL1):c.1203G>T (p.Arg401=)
|
rs2109302089
|
|
NM_033159.4(HYAL1):c.1209C>G (p.Ala403=)
|
rs1553712428
|
|
NM_033159.4(HYAL1):c.120C>G (p.Thr40=)
|
rs782749500
|
|
NM_033159.4(HYAL1):c.1212C>G (p.Leu404=)
|
rs1702084252
|
|
NM_033159.4(HYAL1):c.1230A>G (p.Ala410=)
|
|
|
NM_033159.4(HYAL1):c.1230A>T (p.Ala410=)
|
|
|
NM_033159.4(HYAL1):c.1245G>A (p.Glu415=)
|
rs1702083003
|
|
NM_033159.4(HYAL1):c.1269C>A (p.Gly423=)
|
|
|
NM_033159.4(HYAL1):c.1299C>T (p.Ser433=)
|
|
|
NM_033159.4(HYAL1):c.147G>A (p.Val49=)
|
|
|
NM_033159.4(HYAL1):c.15G>C (p.Leu5=)
|
rs1702232203
|
|
NM_033159.4(HYAL1):c.219T>A (p.Ile73=)
|
rs782696394
|
|
NM_033159.4(HYAL1):c.21C>T (p.Pro7=)
|
|
|
NM_033159.4(HYAL1):c.235C>T (p.Leu79=)
|
|
|
NM_033159.4(HYAL1):c.24C>T (p.Ile8=)
|
rs370239620
|
|
NM_033159.4(HYAL1):c.255C>T (p.Tyr85=)
|
rs2109308586
|
|
NM_033159.4(HYAL1):c.261C>T (p.Pro87=)
|
rs942837278
|
|
NM_033159.4(HYAL1):c.267G>A (p.Gly89=)
|
rs587724757
|
|
NM_033159.4(HYAL1):c.267G>C (p.Gly89=)
|
rs587724757
|
|
NM_033159.4(HYAL1):c.288G>T (p.Leu96=)
|
rs2109308488
|
|
NM_033159.4(HYAL1):c.30C>T (p.Ala10=)
|
|
|
NM_033159.4(HYAL1):c.312C>G (p.Ala104=)
|
|
|
NM_033159.4(HYAL1):c.318G>T (p.Leu106=)
|
rs782692193
|
|
NM_033159.4(HYAL1):c.327A>T (p.Thr109=)
|
|
|
NM_033159.4(HYAL1):c.348C>T (p.Ala116=)
|
|
|
NM_033159.4(HYAL1):c.363C>T (p.Asp121=)
|
rs2109308228
|
|
NM_033159.4(HYAL1):c.36C>T (p.Phe12=)
|
rs2109309315
|
|
NM_033159.4(HYAL1):c.387C>T (p.Asp129=)
|
|
|
NM_033159.4(HYAL1):c.417C>T (p.Phe139=)
|
|
|
NM_033159.4(HYAL1):c.420C>T (p.Asn140=)
|
rs782291492
|
|
NM_033159.4(HYAL1):c.432G>A (p.Lys144=)
|
|
|
NM_033159.4(HYAL1):c.43T>C (p.Leu15=)
|
rs1702231251
|
|
NM_033159.4(HYAL1):c.454C>A (p.Arg152=)
|
rs587774476
|
|
NM_033159.4(HYAL1):c.454C>T (p.Arg152Trp)
|
rs587774476
|
|
NM_033159.4(HYAL1):c.504G>A (p.Glu168=)
|
rs1553713217
|
|
NM_033159.4(HYAL1):c.516G>A (p.Gln172=)
|
rs2109307766
|
|
NM_033159.4(HYAL1):c.528G>A (p.Gln176=)
|
|
|
NM_033159.4(HYAL1):c.534T>C (p.Ala178=)
|
|
|
NM_033159.4(HYAL1):c.537A>T (p.Ala179=)
|
|
|
NM_033159.4(HYAL1):c.540G>A (p.Arg180=)
|
rs2109307682
|
|
NM_033159.4(HYAL1):c.564G>A (p.Gln188=)
|
|
|
NM_033159.4(HYAL1):c.571C>A (p.Arg191=)
|
rs143791794
|
|
NM_033159.4(HYAL1):c.573G>A (p.Arg191=)
|
|
|
NM_033159.4(HYAL1):c.600C>T (p.Gly200=)
|
rs374928005
|
|
NM_033159.4(HYAL1):c.612C>T (p.Phe204=)
|
rs781783393
|
|
NM_033159.4(HYAL1):c.615T>G (p.Pro205=)
|
|
|
NM_033159.4(HYAL1):c.621C>T (p.Cys207=)
|
|
|
NM_033159.4(HYAL1):c.627C>T (p.Asn209=)
|
|
|
NM_033159.4(HYAL1):c.637C>T (p.Leu213=)
|
rs782132370
|
|
NM_033159.4(HYAL1):c.639A>G (p.Leu213=)
|
rs1559819460
|
|
NM_033159.4(HYAL1):c.63C>A (p.Gly21=)
|
|
|
NM_033159.4(HYAL1):c.651C>T (p.Tyr217=)
|
rs2109307304
|
|
NM_033159.4(HYAL1):c.666A>G (p.Pro222=)
|
rs1366454491
|
|
NM_033159.4(HYAL1):c.669A>G (p.Ser223=)
|
rs939067401
|
|
NM_033159.4(HYAL1):c.705G>A (p.Leu235=)
|
|
|
NM_033159.4(HYAL1):c.735C>T (p.Ser245=)
|
|
|
NM_033159.4(HYAL1):c.753G>A (p.Val251=)
|
rs2109307030
|
|
NM_033159.4(HYAL1):c.75C>G (p.Pro25=)
|
|
|
NM_033159.4(HYAL1):c.765A>G (p.Thr255=)
|
rs2109307002
|
|
NM_033159.4(HYAL1):c.768G>C (p.Gly256=)
|
|
|
NM_033159.4(HYAL1):c.774A>G (p.Ser258=)
|
rs1363657470
|
|
NM_033159.4(HYAL1):c.783T>C (p.Tyr261=)
|
rs2109306923
|
|
NM_033159.4(HYAL1):c.789A>G (p.Gln263=)
|
rs1702190189
|
|
NM_033159.4(HYAL1):c.792C>T (p.His264=)
|
|
|
NM_033159.4(HYAL1):c.801C>G (p.Ala267=)
|
|
|
NM_033159.4(HYAL1):c.801C>T (p.Ala267=)
|
rs149438911
|
|
NM_033159.4(HYAL1):c.825T>G (p.Ala275=)
|
|
|
NM_033159.4(HYAL1):c.834C>T (p.Asp278=)
|
|
|
NM_033159.4(HYAL1):c.837C>G (p.Pro279=)
|
rs2109306714
|
|
NM_033159.4(HYAL1):c.837C>T (p.Pro279=)
|
rs2109306714
|
|
NM_033159.4(HYAL1):c.846G>C (p.Pro282=)
|
rs782094366
|
|
NM_033159.4(HYAL1):c.855C>G (p.Pro285=)
|
rs2109306638
|
|
NM_033159.4(HYAL1):c.876C>T (p.Asp292=)
|
|
|
NM_033159.4(HYAL1):c.900+10C>G
|
|
|
NM_033159.4(HYAL1):c.900+14A>T
|
|
|
NM_033159.4(HYAL1):c.900+16C>A
|
|
|
NM_033159.4(HYAL1):c.900+16C>G
|
|
|
NM_033159.4(HYAL1):c.900+17C>T
|
|
|
NM_033159.4(HYAL1):c.900+18T>G
|
|
|
NM_033159.4(HYAL1):c.901-13G>A
|
|
|
NM_033159.4(HYAL1):c.901-16G>A
|
|
|
NM_033159.4(HYAL1):c.901-20C>T
|
rs2109304533
|
|
NM_033159.4(HYAL1):c.901-7T>C
|
|
|
NM_033159.4(HYAL1):c.90G>A (p.Arg30=)
|
rs2109309118
|
|
NM_033159.4(HYAL1):c.919C>T (p.Leu307=)
|
rs587687583
|
|
NM_033159.4(HYAL1):c.921G>A (p.Leu307=)
|
rs782200873
|
|
NM_033159.4(HYAL1):c.933G>C (p.Ala311=)
|
|
|
NM_033159.4(HYAL1):c.936C>G (p.Ala312=)
|
rs375213606
|
|
NM_033159.4(HYAL1):c.954G>A (p.Val318=)
|
rs2109304145
|
|
NM_033159.4(HYAL1):c.957G>A (p.Val319=)
|
|
|
NM_033159.4(HYAL1):c.966G>A (p.Val322=)
|
rs1467161408
|
|
NM_033159.4(HYAL1):c.969C>T (p.Ser323=)
|
rs978042622
|
|
NM_033159.4(HYAL1):c.987C>A (p.Thr329=)
|
|
|
NM_033159.4(HYAL1):c.990+12C>T
|
|
|
NM_033159.4(HYAL1):c.990+15G>A
|
|
|
NM_033159.4(HYAL1):c.990+19T>A
|
|
|
NM_033159.4(HYAL1):c.991-11T>A
|
|
|
NM_033159.4(HYAL1):c.991-20T>C
|
|
|
NM_033159.4(HYAL1):c.991-5C>T
|
|
|
NM_033159.4(HYAL1):c.991-6A>C
|
|
|
NM_033159.4(HYAL1):c.996A>C (p.Ser332=)
|
|
|
NM_033159.4(HYAL1):c.996A>G (p.Ser332=)
|
|
|
NM_033159.4(HYAL1):c.99C>A (p.Thr33=)
|
|
|
NM_053013.4(ENO3):c.1047G>C (p.Ser349=)
|
|
|
NM_053013.4(ENO3):c.105G>A (p.Val35=)
|
|
|
NM_053013.4(ENO3):c.1067+16C>T
|
|
|
NM_053013.4(ENO3):c.108C>T (p.Pro36=)
|
|
|
NM_053013.4(ENO3):c.1176+10G>A
|
|
|
NM_053013.4(ENO3):c.1176+16C>T
|
|
|
NM_053013.4(ENO3):c.1177-16C>A
|
|
|
NM_053013.4(ENO3):c.1177-16C>T
|
rs372893427
|
|
NM_053013.4(ENO3):c.1177-7T>G
|
rs1567674013
|
|
NM_053013.4(ENO3):c.1185T>C (p.Thr395=)
|
|
|
NM_053013.4(ENO3):c.1203G>A (p.Ser401=)
|
|
|
NM_053013.4(ENO3):c.1215C>T (p.Ala405=)
|
|
|
NM_053013.4(ENO3):c.1235+19G>A
|
|
|
NM_053013.4(ENO3):c.1236-14T>C
|
|
|
NM_053013.4(ENO3):c.1239C>T (p.Ile413=)
|
|
|
NM_053013.4(ENO3):c.1272T>C (p.Ala424=)
|
|
|
NM_053013.4(ENO3):c.1272T>G (p.Ala424=)
|
|
|
NM_053013.4(ENO3):c.132T>C (p.Tyr44=)
|
rs1971587909
|
|
NM_053013.4(ENO3):c.135G>A (p.Glu45=)
|
|
|
NM_053013.4(ENO3):c.153C>T (p.Asp51=)
|
|
|
NM_053013.4(ENO3):c.181+16C>T
|
|
|
NM_053013.4(ENO3):c.181+17G>A
|
|
|
NM_053013.4(ENO3):c.181+17G>C
|
|
|
NM_053013.4(ENO3):c.182-18A>G
|
|
|
NM_053013.4(ENO3):c.182-7T>C
|
|
|
NM_053013.4(ENO3):c.186C>T (p.Val62=)
|
|
|
NM_053013.4(ENO3):c.228T>C (p.Ala76=)
|
|
|
NM_053013.4(ENO3):c.228T>G (p.Ala76=)
|
|
|
NM_053013.4(ENO3):c.240+16C>T
|
|
|
NM_053013.4(ENO3):c.240+18C>T
|
|
|
NM_053013.4(ENO3):c.240+20C>G
|
|
|
NM_053013.4(ENO3):c.240+9G>A
|
|
|
NM_053013.4(ENO3):c.255G>A (p.Val85=)
|
|
|
NM_053013.4(ENO3):c.300C>T (p.Thr100=)
|
|
|
NM_053013.4(ENO3):c.310+11G>C
|
|
|
NM_053013.4(ENO3):c.310+18G>A
|
|
|
NM_053013.4(ENO3):c.310+7G>A
|
|
|
NM_053013.4(ENO3):c.311-15C>T
|
|
|
NM_053013.4(ENO3):c.339C>T (p.Gly113=)
|
|
|
NM_053013.4(ENO3):c.34T>C (p.Leu12=)
|
|
|
NM_053013.4(ENO3):c.351C>T (p.Ala117=)
|
|
|
NM_053013.4(ENO3):c.354G>C (p.Val118=)
|
|
|
NM_053013.4(ENO3):c.378G>A (p.Lys126=)
|
|
|
NM_053013.4(ENO3):c.381G>T (p.Gly127=)
|
|
|
NM_053013.4(ENO3):c.384C>T (p.Val128=)
|
|
|
NM_053013.4(ENO3):c.39C>T (p.Asp13=)
|
|
|
NM_053013.4(ENO3):c.411C>T (p.Leu137=)
|
|
|
NM_053013.4(ENO3):c.444+13A>G
|
|
|
NM_053013.4(ENO3):c.444+14C>T
|
|
|
NM_053013.4(ENO3):c.444+7G>A
|
|
|
NM_053013.4(ENO3):c.445-11C>T
|
|
|
NM_053013.4(ENO3):c.445-13C>T
|
|
|
NM_053013.4(ENO3):c.445-15C>T
|
|
|
NM_053013.4(ENO3):c.445-18dup
|
|
|
NM_053013.4(ENO3):c.462C>T (p.Asn154=)
|
|
|
NM_053013.4(ENO3):c.468C>T (p.Gly156=)
|
|
|
NM_053013.4(ENO3):c.501G>A (p.Glu167=)
|
|
|
NM_053013.4(ENO3):c.522A>G (p.Gly174=)
|
|
|
NM_053013.4(ENO3):c.531C>T (p.Ser177=)
|
|
|
NM_053013.4(ENO3):c.540A>G (p.Glu180=)
|
|
|
NM_053013.4(ENO3):c.564C>G (p.Val188=)
|
|
|
NM_053013.4(ENO3):c.570C>T (p.His190=)
|
|
|
NM_053013.4(ENO3):c.615C>T (p.Thr205=)
|
|
|
NM_053013.4(ENO3):c.618T>C (p.Asn206=)
|
|
|
NM_053013.4(ENO3):c.639C>T (p.Phe213=)
|
|
|
NM_053013.4(ENO3):c.651C>T (p.Ile217=)
|
|
|
NM_053013.4(ENO3):c.657G>A (p.Glu219=)
|
|
|
NM_053013.4(ENO3):c.667+11del
|
|
|
NM_053013.4(ENO3):c.667+17C>G
|
|
|
NM_053013.4(ENO3):c.668-6C>T
|
|
|
NM_053013.4(ENO3):c.675G>A (p.Glu225=)
|
|
|
NM_053013.4(ENO3):c.687G>A (p.Thr229=)
|
|
|
NM_053013.4(ENO3):c.687G>C (p.Thr229=)
|
|
|
NM_053013.4(ENO3):c.699G>T (p.Ala233=)
|
|
|
NM_053013.4(ENO3):c.6C>T (p.Ala2=)
|
|
|
NM_053013.4(ENO3):c.714C>T (p.Asp238=)
|
|
|
NM_053013.4(ENO3):c.726C>A (p.Ile242=)
|
|
|
NM_053013.4(ENO3):c.726C>T (p.Ile242=)
|
|
|
NM_053013.4(ENO3):c.738G>A (p.Val246=)
|
rs1266761542
|
|
NM_053013.4(ENO3):c.744A>G (p.Ala248=)
|
|
|
NM_053013.4(ENO3):c.750G>A (p.Glu250=)
|
|
|
NM_053013.4(ENO3):c.771C>T (p.Tyr257=)
|
|
|
NM_053013.4(ENO3):c.78G>A (p.Thr26=)
|
rs758704680
|
|
NM_053013.4(ENO3):c.801C>T (p.Pro267=)
|
|
|
NM_053013.4(ENO3):c.85+14C>T
|
|
|
NM_053013.4(ENO3):c.85+15A>T
|
|
|
NM_053013.4(ENO3):c.86-12C>T
|
|
|
NM_053013.4(ENO3):c.86-18C>T
|
|
|
NM_053013.4(ENO3):c.865+11C>T
|
|
|
NM_053013.4(ENO3):c.865+12G>A
|
|
|
NM_053013.4(ENO3):c.865+7C>T
|
|
|
NM_053013.4(ENO3):c.865+8G>A
|
|
|
NM_053013.4(ENO3):c.866-13C>T
|
|
|
NM_053013.4(ENO3):c.866-15T>C
|
|
|
NM_053013.4(ENO3):c.866-4C>A
|
|
|
NM_053013.4(ENO3):c.866-8C>A
|
|
|
NM_053013.4(ENO3):c.87C>A (p.Gly29=)
|
rs771319383
|
|
NM_053013.4(ENO3):c.87C>T (p.Gly29=)
|
|
|
NM_053013.4(ENO3):c.915C>G (p.Thr305=)
|
|
|
NM_053013.4(ENO3):c.915C>T (p.Thr305=)
|
rs565982583
|
|
NM_053013.4(ENO3):c.969C>T (p.Thr323=)
|
|
|
NM_053013.4(ENO3):c.99A>T (p.Ala33=)
|
|
|
NM_152419.3(HGSNAT):c.1005T>A (p.Leu335=)
|
|
|
NM_152419.3(HGSNAT):c.1012+14C>A
|
|
|
NM_152419.3(HGSNAT):c.1012+14C>T
|
|
|
NM_152419.3(HGSNAT):c.1012+15C>T
|
|
|
NM_152419.3(HGSNAT):c.1012+19T>C
|
|
|
NM_152419.3(HGSNAT):c.1012+7A>G
|
|
|
NM_152419.3(HGSNAT):c.1012+7dup
|
|
|
NM_152419.3(HGSNAT):c.1012+8C>A
|
|
|
NM_152419.3(HGSNAT):c.1012+8del
|
rs2130766762
|
|
NM_152419.3(HGSNAT):c.1013-12T>C
|
|
|
NM_152419.3(HGSNAT):c.1013-15_1013-14del
|
|
|
NM_152419.3(HGSNAT):c.1013-20C>T
|
rs1804147010
|
|
NM_152419.3(HGSNAT):c.1013-4G>A
|
rs1260943762
|
|
NM_152419.3(HGSNAT):c.1013-9C>G
|
rs2130783567
|
|
NM_152419.3(HGSNAT):c.1026G>A (p.Lys342=)
|
|
|
NM_152419.3(HGSNAT):c.102G>A (p.Gln34=)
|
|
|
NM_152419.3(HGSNAT):c.1050G>A (p.Gln350=)
|
rs2130783705
|
|
NM_152419.3(HGSNAT):c.1051C>A (p.Arg351=)
|
|
|
NM_152419.3(HGSNAT):c.1054T>C (p.Leu352=)
|
|
|
NM_152419.3(HGSNAT):c.105C>G (p.Ala35=)
|
|
|
NM_152419.3(HGSNAT):c.105C>T (p.Ala35=)
|
|
|
NM_152419.3(HGSNAT):c.1062G>A (p.Val354=)
|
|
|
NM_152419.3(HGSNAT):c.1065A>T (p.Thr355=)
|
|
|
NM_152419.3(HGSNAT):c.1080T>G (p.Ala360=)
|
rs757385876
|
|
NM_152419.3(HGSNAT):c.1089G>A (p.Glu363=)
|
|
|
NM_152419.3(HGSNAT):c.108G>C (p.Ala36=)
|
rs886062952
|
|
NM_152419.3(HGSNAT):c.1095C>T (p.Leu365=)
|
|
|
NM_152419.3(HGSNAT):c.1101T>C (p.Ala367=)
|
|
|
NM_152419.3(HGSNAT):c.1104A>G (p.Lys368=)
|
|
|
NM_152419.3(HGSNAT):c.1110G>C (p.Val370=)
|
|
|
NM_152419.3(HGSNAT):c.1116A>G (p.Glu372=)
|
rs781052651
|
|
NM_152419.3(HGSNAT):c.1125C>G (p.Ala375=)
|
rs987062801
|
|
NM_152419.3(HGSNAT):c.1125C>T (p.Ala375=)
|
rs987062801
|
|
NM_152419.3(HGSNAT):c.1128+11A>G
|
|
|
NM_152419.3(HGSNAT):c.1128+13G>A
|
|
|
NM_152419.3(HGSNAT):c.1128+14T>A
|
|
|
NM_152419.3(HGSNAT):c.1128+16T>C
|
|
|
NM_152419.3(HGSNAT):c.1128+9C>A
|
|
|
NM_152419.3(HGSNAT):c.1129-10C>A
|
|
|
NM_152419.3(HGSNAT):c.1129-7C>A
|
rs756262049
|
|
NM_152419.3(HGSNAT):c.1129-9C>T
|
|
|
NM_152419.3(HGSNAT):c.1158C>T (p.Ile386=)
|
|
|
NM_152419.3(HGSNAT):c.115C>A (p.Arg39=)
|
|
|
NM_152419.3(HGSNAT):c.1161G>T (p.Thr387=)
|
rs761414980
|
|
NM_152419.3(HGSNAT):c.1173C>T (p.Pro391=)
|
rs1563381683
|
|
NM_152419.3(HGSNAT):c.118+10C>T
|
rs768117824
|
|
NM_152419.3(HGSNAT):c.118+11A>C
|
|
|
NM_152419.3(HGSNAT):c.118+11A>G
|
|
|
NM_152419.3(HGSNAT):c.118+12C>G
|
rs1408305187
|
|
NM_152419.3(HGSNAT):c.118+12C>T
|
|
|
NM_152419.3(HGSNAT):c.118+13C>A
|
|
|
NM_152419.3(HGSNAT):c.118+13C>G
|
|
|
NM_152419.3(HGSNAT):c.118+13C>T
|
|
|
NM_152419.3(HGSNAT):c.118+16C>G
|
rs1457633859
|
|
NM_152419.3(HGSNAT):c.118+16C>T
|
|
|
NM_152419.3(HGSNAT):c.118+18A>C
|
|
|
NM_152419.3(HGSNAT):c.118+18A>G
|
|
|
NM_152419.3(HGSNAT):c.118+19C>T
|
|
|
NM_152419.3(HGSNAT):c.118+20C>G
|
rs1802485942
|
|
NM_152419.3(HGSNAT):c.118+20C>T
|
rs1802485942
|
|
NM_152419.3(HGSNAT):c.118+7G>A
|
rs1298192155
|
|
NM_152419.3(HGSNAT):c.118+7G>C
|
|
|
NM_152419.3(HGSNAT):c.118+8C>G
|
rs2130648798
|
|
NM_152419.3(HGSNAT):c.118+8C>T
|
rs2130648798
|
|
NM_152419.3(HGSNAT):c.118+9A>C
|
|
|
NM_152419.3(HGSNAT):c.1182G>A (p.Leu394=)
|
|
|
NM_152419.3(HGSNAT):c.1182G>C (p.Leu394=)
|
rs1218241477
|
|
NM_152419.3(HGSNAT):c.1185C>T (p.Leu395=)
|
|
|
NM_152419.3(HGSNAT):c.119-12A>G
|
|
|
NM_152419.3(HGSNAT):c.119-5A>G
|
rs756141376
|
|
NM_152419.3(HGSNAT):c.119-9T>C
|
rs1346109871
|
|
NM_152419.3(HGSNAT):c.1191G>C (p.Leu397=)
|
rs1563381716
|
|
NM_152419.3(HGSNAT):c.1195C>T (p.Leu399=)
|
|
|
NM_152419.3(HGSNAT):c.1221A>G (p.Thr407=)
|
|
|
NM_152419.3(HGSNAT):c.1227C>T (p.Leu409=)
|
rs2130805422
|
|
NM_152419.3(HGSNAT):c.1228C>T (p.Leu410=)
|
|
|
NM_152419.3(HGSNAT):c.1230G>T (p.Leu410=)
|
rs1356136152
|
|
NM_152419.3(HGSNAT):c.1248T>C (p.Pro416=)
|
|
|
NM_152419.3(HGSNAT):c.1250+10C>A
|
|
|
NM_152419.3(HGSNAT):c.1250+10C>T
|
rs2130805528
|
|
NM_152419.3(HGSNAT):c.1250+12C>T
|
rs1804532623
|
|
NM_152419.3(HGSNAT):c.1250+14T>C
|
|
|
NM_152419.3(HGSNAT):c.1250+15G>C
|
|
|
NM_152419.3(HGSNAT):c.1250+16G>A
|
|
|
NM_152419.3(HGSNAT):c.1250+17G>T
|
|
|
NM_152419.3(HGSNAT):c.1250+18G>A
|
|
|
NM_152419.3(HGSNAT):c.1250+7G>C
|
rs74795999
|
|
NM_152419.3(HGSNAT):c.1251-14T>C
|
|
|
NM_152419.3(HGSNAT):c.1251-4C>G
|
|
|
NM_152419.3(HGSNAT):c.1251-6T>C
|
rs2130807215
|
|
NM_152419.3(HGSNAT):c.1251-8C>A
|
|
|
NM_152419.3(HGSNAT):c.1251-9C>T
|
|
|
NM_152419.3(HGSNAT):c.1269G>A (p.Gly423=)
|
rs2130807297
|
|
NM_152419.3(HGSNAT):c.1275T>C (p.Ile425=)
|
rs1586751999
|
|
NM_152419.3(HGSNAT):c.1281T>C (p.Asp427=)
|
|
|
NM_152419.3(HGSNAT):c.1299T>C (p.Asn433=)
|
rs2130807411
|
|
NM_152419.3(HGSNAT):c.12G>C (p.Ala4=)
|
rs1018475767
|
|
NM_152419.3(HGSNAT):c.12G>T (p.Ala4=)
|
rs1018475767
|
|
NM_152419.3(HGSNAT):c.1314T>C (p.Ala438=)
|
rs776703067
|
|
NM_152419.3(HGSNAT):c.132A>G (p.Lys44=)
|
rs2130677148
|
|
NM_152419.3(HGSNAT):c.1338G>C (p.Leu446=)
|
rs2130807561
|
|
NM_152419.3(HGSNAT):c.1344A>G (p.Gly448=)
|
|
|
NM_152419.3(HGSNAT):c.1353C>T (p.His451=)
|
|
|
NM_152419.3(HGSNAT):c.1371T>A (p.Ser457=)
|
rs947648591
|
|
NM_152419.3(HGSNAT):c.1377+11C>G
|
|
|
NM_152419.3(HGSNAT):c.1377+13C>A
|
|
|
NM_152419.3(HGSNAT):c.1377+13C>T
|
|
|
NM_152419.3(HGSNAT):c.1377+14G>C
|
|
|
NM_152419.3(HGSNAT):c.1377+15A>G
|
|
|
NM_152419.3(HGSNAT):c.1377+15A>T
|
|
|
NM_152419.3(HGSNAT):c.1377+7G>A
|
rs1225445756
|
|
NM_152419.3(HGSNAT):c.1377+9G>C
|
rs2130807739
|
|
NM_152419.3(HGSNAT):c.1378-13T>G
|
rs2130810544
|
|
NM_152419.3(HGSNAT):c.1378-17T>C
|
|
|
NM_152419.3(HGSNAT):c.1380A>T (p.Val460=)
|
|
|
NM_152419.3(HGSNAT):c.138T>C (p.His46=)
|
|
|
NM_152419.3(HGSNAT):c.1392C>A (p.Thr464=)
|
rs767972481
|
|
NM_152419.3(HGSNAT):c.1392C>G (p.Thr464=)
|
rs767972481
|
|
NM_152419.3(HGSNAT):c.1401C>G (p.Ala467=)
|
|
|
NM_152419.3(HGSNAT):c.1401C>T (p.Ala467=)
|
rs1337915028
|
|
NM_152419.3(HGSNAT):c.1404T>C (p.Tyr468=)
|
|
|
NM_152419.3(HGSNAT):c.1416C>T (p.Gly472=)
|
|
|
NM_152419.3(HGSNAT):c.1419C>T (p.Ile473=)
|
|
|
NM_152419.3(HGSNAT):c.1431C>T (p.Ile477=)
|
|
|
NM_152419.3(HGSNAT):c.144G>A (p.Glu48=)
|
rs2130677225
|
|
NM_152419.3(HGSNAT):c.1452T>C (p.Phe484=)
|
|
|
NM_152419.3(HGSNAT):c.1453T>C (p.Leu485=)
|
|
|
NM_152419.3(HGSNAT):c.1455A>G (p.Leu485=)
|
|
|
NM_152419.3(HGSNAT):c.1464+10C>A
|
|
|
NM_152419.3(HGSNAT):c.1464+11A>C
|
|
|
NM_152419.3(HGSNAT):c.1464+11A>G
|
rs573124827
|
|
NM_152419.3(HGSNAT):c.1464+14_1464+18del
|
|
|
NM_152419.3(HGSNAT):c.1464+17T>C
|
|
|
NM_152419.3(HGSNAT):c.1464+9T>A
|
rs1804623128
|
|
NM_152419.3(HGSNAT):c.1465-15T>C
|
|
|
NM_152419.3(HGSNAT):c.1465-16G>A
|
rs2130819513
|
|
NM_152419.3(HGSNAT):c.1465-18C>T
|
|
|
NM_152419.3(HGSNAT):c.1465-19del
|
|
|
NM_152419.3(HGSNAT):c.1465-5T>C
|
rs2130819538
|
|
NM_152419.3(HGSNAT):c.1465-6C>T
|
|
|
NM_152419.3(HGSNAT):c.1465-7C>T
|
rs2130819532
|
|
NM_152419.3(HGSNAT):c.1465-9C>T
|
rs2130819526
|
|
NM_152419.3(HGSNAT):c.1473A>G (p.Lys491=)
|
rs2130819577
|
|
NM_152419.3(HGSNAT):c.1477C>T (p.Leu493=)
|
rs1804746503
|
|
NM_152419.3(HGSNAT):c.1479A>G (p.Leu493=)
|
rs751229126
|
|
NM_152419.3(HGSNAT):c.1480T>C (p.Leu494=)
|
|
|
NM_152419.3(HGSNAT):c.1485T>C (p.Tyr495=)
|
|
|
NM_152419.3(HGSNAT):c.1510C>T (p.Leu504=)
|
|
|
NM_152419.3(HGSNAT):c.1521C>T (p.Phe507=)
|
rs1280407859
|
|
NM_152419.3(HGSNAT):c.1533T>C (p.Cys511=)
|
|
|
NM_152419.3(HGSNAT):c.1536T>C (p.Cys512=)
|
|
|
NM_152419.3(HGSNAT):c.1542+12G>A
|
|
|
NM_152419.3(HGSNAT):c.1543-10C>G
|
|
|
NM_152419.3(HGSNAT):c.1543-10C>T
|
|
|
NM_152419.3(HGSNAT):c.1543-11C>A
|
rs1191230075
|
|
NM_152419.3(HGSNAT):c.1543-12T>G
|
rs768881526
|
|
NM_152419.3(HGSNAT):c.1543-16C>T
|
rs2130821050
|
|
NM_152419.3(HGSNAT):c.1543-19C>T
|
|
|
NM_152419.3(HGSNAT):c.1543-5T>G
|
|
|
NM_152419.3(HGSNAT):c.1545G>T (p.Gly515=)
|
|
|
NM_152419.3(HGSNAT):c.1548C>T (p.Leu516=)
|
|
|
NM_152419.3(HGSNAT):c.1557T>C (p.Val519=)
|
rs2130821179
|
|
NM_152419.3(HGSNAT):c.1558G>A (p.Ala520Thr)
|
rs541318695
|
|
NM_152419.3(HGSNAT):c.1566G>A (p.Thr522=)
|
|
|
NM_152419.3(HGSNAT):c.1566G>C (p.Thr522=)
|
|
|
NM_152419.3(HGSNAT):c.1613+8T>C
|
rs2130821361
|
|
NM_152419.3(HGSNAT):c.1614-11A>G
|
|
|
NM_152419.3(HGSNAT):c.1614-13C>T
|
rs2130821520
|
|
NM_152419.3(HGSNAT):c.1614-16C>T
|
|
|
NM_152419.3(HGSNAT):c.1614-18C>G
|
|
|
NM_152419.3(HGSNAT):c.1614-20G>A
|
|
|
NM_152419.3(HGSNAT):c.1614-5C>T
|
|
|
NM_152419.3(HGSNAT):c.1614-6T>A
|
|
|
NM_152419.3(HGSNAT):c.1614-6T>C
|
rs935366032
|
|
NM_152419.3(HGSNAT):c.1614-7C>T
|
|
|
NM_152419.3(HGSNAT):c.1614-9C>T
|
rs2130821536
|
|
NM_152419.3(HGSNAT):c.1617C>G (p.Ser539=)
|
rs767625503
|
|
NM_152419.3(HGSNAT):c.1617C>T (p.Ser539=)
|
rs767625503
|
|
NM_152419.3(HGSNAT):c.1626T>C (p.Tyr542=)
|
|
|
NM_152419.3(HGSNAT):c.1629C>T (p.Val543=)
|
rs1310490354
|
|
NM_152419.3(HGSNAT):c.1635G>A (p.Thr545=)
|
rs775897635
|
|
NM_152419.3(HGSNAT):c.1635G>C (p.Thr545=)
|
rs775897635
|
|
NM_152419.3(HGSNAT):c.1638C>A (p.Leu546=)
|
rs2130821674
|
|
NM_152419.3(HGSNAT):c.1641T>C (p.Ser547=)
|
|
|
NM_152419.3(HGSNAT):c.1644T>A (p.Ser548=)
|
rs1586758163
|
|
NM_152419.3(HGSNAT):c.1650C>T (p.Ala550=)
|
rs1586758179
|
|
NM_152419.3(HGSNAT):c.1671G>A (p.Leu557=)
|
rs369681926
|
|
NM_152419.3(HGSNAT):c.1677A>G (p.Pro559=)
|
rs2130821776
|
|
NM_152419.3(HGSNAT):c.1680T>G (p.Val560=)
|
rs2130821797
|
|
NM_152419.3(HGSNAT):c.168A>T (p.Leu56=)
|
|
|
NM_152419.3(HGSNAT):c.1692G>A (p.Lys564=)
|
|
|
NM_152419.3(HGSNAT):c.1704A>G (p.Thr568=)
|
rs1804781951
|
|
NM_152419.3(HGSNAT):c.1707A>G (p.Gly569=)
|
|
|
NM_152419.3(HGSNAT):c.1710C>A (p.Thr570=)
|
rs1469124590
|
|
NM_152419.3(HGSNAT):c.1710C>T (p.Thr570=)
|
rs1469124590
|
|
NM_152419.3(HGSNAT):c.1713A>T (p.Pro571=)
|
|
|
NM_152419.3(HGSNAT):c.171C>T (p.Leu57=)
|
|
|
NM_152419.3(HGSNAT):c.1722T>C (p.Tyr574=)
|
|
|
NM_152419.3(HGSNAT):c.1726+10C>T
|
|
|
NM_152419.3(HGSNAT):c.1726+13C>T
|
|
|
NM_152419.3(HGSNAT):c.1726+14A>G
|
|
|
NM_152419.3(HGSNAT):c.1726+15A>C
|
|
|
NM_152419.3(HGSNAT):c.1726+15A>G
|
|
|
NM_152419.3(HGSNAT):c.1726+17C>T
|
rs2130822028
|
|
NM_152419.3(HGSNAT):c.1726+18T>G
|
|
|
NM_152419.3(HGSNAT):c.1726+22dup
|
rs755106287
|
|
NM_152419.3(HGSNAT):c.1727-11C>G
|
rs1370309387
|
|
NM_152419.3(HGSNAT):c.1727-11C>T
|
|
|
NM_152419.3(HGSNAT):c.1727-14TC[3]
|
rs1804842925
|
|
NM_152419.3(HGSNAT):c.1727-15G>A
|
rs2130825457
|
|
NM_152419.3(HGSNAT):c.1727-17A>T
|
rs780686580
|
|
NM_152419.3(HGSNAT):c.1727-19G>A
|
rs369322408
|
|
NM_152419.3(HGSNAT):c.1727-19G>C
|
rs369322408
|
|
NM_152419.3(HGSNAT):c.1727-20T>C
|
|
|
NM_152419.3(HGSNAT):c.1727-4dup
|
|
|
NM_152419.3(HGSNAT):c.1727-5T>A
|
|
|
NM_152419.3(HGSNAT):c.1727-9C>T
|
|
|
NM_152419.3(HGSNAT):c.1746A>G (p.Val582=)
|
|
|
NM_152419.3(HGSNAT):c.1755C>T (p.Gly585=)
|
rs2130825582
|
|
NM_152419.3(HGSNAT):c.1758C>T (p.His586=)
|
rs1420418918
|
|
NM_152419.3(HGSNAT):c.1764G>A (p.Val588=)
|
rs765645520
|
|
NM_152419.3(HGSNAT):c.1776C>T (p.Tyr592=)
|
|
|
NM_152419.3(HGSNAT):c.1782C>G (p.Pro594=)
|
|
|
NM_152419.3(HGSNAT):c.1794G>A (p.Lys598=)
|
|
|
NM_152419.3(HGSNAT):c.1795C>T (p.Leu599=)
|
|
|
NM_152419.3(HGSNAT):c.1800G>A (p.Lys600=)
|
|
|
NM_152419.3(HGSNAT):c.1803C>T (p.Asp601=)
|
rs752160921
|
|
NM_152419.3(HGSNAT):c.1806C>T (p.Asn602=)
|
|
|
NM_152419.3(HGSNAT):c.180T>C (p.Asn60=)
|
|
|
NM_152419.3(HGSNAT):c.1818G>A (p.Lys606=)
|
|
|
NM_152419.3(HGSNAT):c.1824C>T (p.His608=)
|
rs2130825787
|
|
NM_152419.3(HGSNAT):c.183A>G (p.Glu61=)
|
rs2130677470
|
|
NM_152419.3(HGSNAT):c.1842C>A (p.Val614=)
|
rs374563604
|
|
NM_152419.3(HGSNAT):c.1845C>T (p.Ala615=)
|
rs768575788
|
|
NM_152419.3(HGSNAT):c.186T>A (p.Leu62=)
|
|
|
NM_152419.3(HGSNAT):c.186T>C (p.Leu62=)
|
rs1239460572
|
|
NM_152419.3(HGSNAT):c.1872C>T (p.Tyr624=)
|
rs946476629
|
|
NM_152419.3(HGSNAT):c.1878C>A (p.Leu626=)
|
|
|
NM_152419.3(HGSNAT):c.1890G>A (p.Lys630=)
|
|
|
NM_152419.3(HGSNAT):c.18G>A (p.Arg6=)
|
|
|
NM_152419.3(HGSNAT):c.195C>T (p.Thr65=)
|
rs1307220758
|
|
NM_152419.3(HGSNAT):c.204C>A (p.Thr68=)
|
rs199816365
|
|
NM_152419.3(HGSNAT):c.210C>T (p.Tyr70=)
|
rs2130677640
|
|
NM_152419.3(HGSNAT):c.21G>A (p.Ala7=)
|
rs1297145817
|
|
NM_152419.3(HGSNAT):c.234+10A>C
|
|
|
NM_152419.3(HGSNAT):c.234+18C>T
|
rs1802743016
|
|
NM_152419.3(HGSNAT):c.234+20C>G
|
|
|
NM_152419.3(HGSNAT):c.234+20C>T
|
|
|
NM_152419.3(HGSNAT):c.234+8T>A
|
rs1205007842
|
|
NM_152419.3(HGSNAT):c.235-13C>G
|
rs2130713714
|
|
NM_152419.3(HGSNAT):c.235-16G>T
|
|
|
NM_152419.3(HGSNAT):c.235-18T>C
|
|
|
NM_152419.3(HGSNAT):c.235-19G>A
|
|
|
NM_152419.3(HGSNAT):c.235-19G>C
|
|
|
NM_152419.3(HGSNAT):c.235-4A>G
|
rs2130713747
|
|
NM_152419.3(HGSNAT):c.235-9T>G
|
rs913764481
|
|
NM_152419.3(HGSNAT):c.240G>A (p.Leu80=)
|
rs774674978
|
|
NM_152419.3(HGSNAT):c.249T>C (p.Val83=)
|
rs2130713807
|
|
NM_152419.3(HGSNAT):c.255A>G (p.Val85=)
|
|
|
NM_152419.3(HGSNAT):c.261T>C (p.Val87=)
|
rs1461875540
|
|
NM_152419.3(HGSNAT):c.264T>C (p.Pro88=)
|
rs2130713884
|
|
NM_152419.3(HGSNAT):c.273A>G (p.Pro91=)
|
rs2130713942
|
|
NM_152419.3(HGSNAT):c.279A>G (p.Ala93=)
|
rs766369405
|
|
NM_152419.3(HGSNAT):c.27C>A (p.Ala9=)
|
rs1802478612
|
|
NM_152419.3(HGSNAT):c.291T>C (p.Ser97=)
|
rs777514582
|
|
NM_152419.3(HGSNAT):c.294T>C (p.Ala98=)
|
rs2130714083
|
|
NM_152419.3(HGSNAT):c.300T>C (p.Ala100=)
|
rs2130714138
|
|
NM_152419.3(HGSNAT):c.306T>C (p.Ser102=)
|
rs772490276
|
|
NM_152419.3(HGSNAT):c.30G>A (p.Ala10=)
|
|
|
NM_152419.3(HGSNAT):c.315C>T (p.Thr105=)
|
rs1586712156
|
|
NM_152419.3(HGSNAT):c.331C>T (p.Leu111=)
|
rs2130714335
|
|
NM_152419.3(HGSNAT):c.333G>T (p.Leu111=)
|
|
|
NM_152419.3(HGSNAT):c.345C>T (p.Asp115=)
|
rs2130714421
|
|
NM_152419.3(HGSNAT):c.34C>T (p.Leu12=)
|
|
|
NM_152419.3(HGSNAT):c.357G>A (p.Glu119=)
|
|
|
NM_152419.3(HGSNAT):c.371+11G>C
|
|
|
NM_152419.3(HGSNAT):c.371+16G>C
|
|
|
NM_152419.3(HGSNAT):c.371+17T>C
|
|
|
NM_152419.3(HGSNAT):c.371+8C>T
|
rs1803172839
|
|
NM_152419.3(HGSNAT):c.371+9C>T
|
rs1180753142
|
|
NM_152419.3(HGSNAT):c.372-11A>T
|
|
|
NM_152419.3(HGSNAT):c.372-12T>C
|
|
|
NM_152419.3(HGSNAT):c.372-13C>T
|
|
|
NM_152419.3(HGSNAT):c.372-4G>T
|
|
|
NM_152419.3(HGSNAT):c.372-8G>A
|
rs2130715102
|
|
NM_152419.3(HGSNAT):c.372-9T>C
|
|
|
NM_152419.3(HGSNAT):c.378A>G (p.Glu126=)
|
|
|
NM_152419.3(HGSNAT):c.37C>T (p.Leu13=)
|
rs2130647858
|
|
NM_152419.3(HGSNAT):c.402C>T (p.Asn134=)
|
|
|
NM_152419.3(HGSNAT):c.405T>C (p.Tyr135=)
|
rs1803181529
|
|
NM_152419.3(HGSNAT):c.408T>C (p.Ser136=)
|
|
|
NM_152419.3(HGSNAT):c.411C>T (p.Leu137=)
|
rs1051098032
|
|
NM_152419.3(HGSNAT):c.412T>C (p.Leu138=)
|
rs1281457648
|
|
NM_152419.3(HGSNAT):c.417A>G (p.Val139=)
|
rs2130715314
|
|
NM_152419.3(HGSNAT):c.420G>A (p.Lys140=)
|
|
|
NM_152419.3(HGSNAT):c.423C>T (p.Asn141=)
|
|
|
NM_152419.3(HGSNAT):c.429T>C (p.His143=)
|
rs2130715366
|
|
NM_152419.3(HGSNAT):c.42C>A (p.Ala14=)
|
|
|
NM_152419.3(HGSNAT):c.42C>T (p.Ala14=)
|
|
|
NM_152419.3(HGSNAT):c.435A>G (p.Gly145=)
|
|
|
NM_152419.3(HGSNAT):c.45G>C (p.Ala15=)
|
rs1351688097
|
|
NM_152419.3(HGSNAT):c.483T>C (p.Asp161=)
|
rs1803185540
|
|
NM_152419.3(HGSNAT):c.48C>T (p.Ser16=)
|
|
|
NM_152419.3(HGSNAT):c.493+14C>G
|
|
|
NM_152419.3(HGSNAT):c.493+14C>T
|
|
|
NM_152419.3(HGSNAT):c.493+16C>G
|
|
|
NM_152419.3(HGSNAT):c.494-12C>T
|
rs776299194
|
|
NM_152419.3(HGSNAT):c.494-13T>C
|
|
|
NM_152419.3(HGSNAT):c.494-15C>A
|
rs1033103288
|
|
NM_152419.3(HGSNAT):c.494-16T>C
|
|
|
NM_152419.3(HGSNAT):c.494-4C>A
|
rs2130721854
|
|
NM_152419.3(HGSNAT):c.494-8T>A
|
|
|
NM_152419.3(HGSNAT):c.495T>C (p.Pro165=)
|
rs2130721874
|
|
NM_152419.3(HGSNAT):c.510C>T (p.Phe170=)
|
|
|
NM_152419.3(HGSNAT):c.51G>A (p.Val17=)
|
rs1229423417
|
|
NM_152419.3(HGSNAT):c.543C>T (p.Ser181=)
|
rs781682753
|
|
NM_152419.3(HGSNAT):c.547C>T (p.Leu183=)
|
|
|
NM_152419.3(HGSNAT):c.54G>A (p.Leu18=)
|
|
|
NM_152419.3(HGSNAT):c.552G>A (p.Arg184=)
|
|
|
NM_152419.3(HGSNAT):c.563+18G>A
|
|
|
NM_152419.3(HGSNAT):c.563+18G>C
|
|
|
NM_152419.3(HGSNAT):c.563+8A>G
|
rs2130722155
|
|
NM_152419.3(HGSNAT):c.563+9T>C
|
|
|
NM_152419.3(HGSNAT):c.564-10T>A
|
rs2130741799
|
|
NM_152419.3(HGSNAT):c.564-4T>G
|
rs2130741836
|
|
NM_152419.3(HGSNAT):c.564-8A>G
|
rs1803532488
|
|
NM_152419.3(HGSNAT):c.564-8_564-5del
|
|
|
NM_152419.3(HGSNAT):c.570T>C (p.Asp190=)
|
rs2130741857
|
|
NM_152419.3(HGSNAT):c.576T>C (p.Phe192=)
|
rs1563366828
|
|
NM_152419.3(HGSNAT):c.579C>T (p.Asn193=)
|
|
|
NM_152419.3(HGSNAT):c.57C>T (p.Ser19=)
|
|
|
NM_152419.3(HGSNAT):c.582T>C (p.Asn194=)
|
|
|
NM_152419.3(HGSNAT):c.600A>C (p.Ile200=)
|
rs2130741996
|
|
NM_152419.3(HGSNAT):c.618T>C (p.Asp206=)
|
|
|
NM_152419.3(HGSNAT):c.621C>T (p.Arg207=)
|
|
|
NM_152419.3(HGSNAT):c.624C>T (p.Leu208=)
|
|
|
NM_152419.3(HGSNAT):c.633+10G>A
|
|
|
NM_152419.3(HGSNAT):c.633+13A>G
|
|
|
NM_152419.3(HGSNAT):c.633+17A>G
|
|
|
NM_152419.3(HGSNAT):c.633+19A>G
|
|
|
NM_152419.3(HGSNAT):c.633+9T>C
|
rs2130742161
|
|
NM_152419.3(HGSNAT):c.634-16C>T
|
|
|
NM_152419.3(HGSNAT):c.634-18C>G
|
|
|
NM_152419.3(HGSNAT):c.634-20T>G
|
|
|
NM_152419.3(HGSNAT):c.634-8T>A
|
rs2130745626
|
|
NM_152419.3(HGSNAT):c.642A>T (p.Gly214=)
|
rs1321515975
|
|
NM_152419.3(HGSNAT):c.651C>T (p.Ser217=)
|
rs2130745723
|
|
NM_152419.3(HGSNAT):c.652A>C (p.Arg218=)
|
rs541981232
|
|
NM_152419.3(HGSNAT):c.657A>G (p.Thr219=)
|
|
|
NM_152419.3(HGSNAT):c.66G>A (p.Leu22=)
|
rs2130648121
|
|
NM_152419.3(HGSNAT):c.672T>C (p.Gly224=)
|
rs757652049
|
|
NM_152419.3(HGSNAT):c.672T>G (p.Gly224=)
|
rs757652049
|
|
NM_152419.3(HGSNAT):c.675T>C (p.Asp225=)
|
rs951025520
|
|
NM_152419.3(HGSNAT):c.67C>T (p.Leu23=)
|
rs1198688385
|
|
NM_152419.3(HGSNAT):c.681G>A (p.Gln227=)
|
|
|
NM_152419.3(HGSNAT):c.699A>C (p.Leu233=)
|
rs756091468
|
|
NM_152419.3(HGSNAT):c.69G>A (p.Leu23=)
|
rs1563349632
|
|
NM_152419.3(HGSNAT):c.6C>T (p.Ser2=)
|
rs535427008
|
|
NM_152419.3(HGSNAT):c.705C>G (p.Ala235=)
|
|
|
NM_152419.3(HGSNAT):c.705C>T (p.Ala235=)
|
|
|
NM_152419.3(HGSNAT):c.706C>T (p.Leu236=)
|
rs1051692363
|
|
NM_152419.3(HGSNAT):c.708G>A (p.Leu236=)
|
rs2130746047
|
|
NM_152419.3(HGSNAT):c.714C>G (p.Pro238=)
|
rs2130746108
|
|
NM_152419.3(HGSNAT):c.720C>T (p.Leu240=)
|
rs2130746165
|
|
NM_152419.3(HGSNAT):c.72C>T (p.Ala24=)
|
rs2130648208
|
|
NM_152419.3(HGSNAT):c.738C>T (p.Phe246=)
|
|
|
NM_152419.3(HGSNAT):c.743+10C>T
|
rs2130746341
|
|
NM_152419.3(HGSNAT):c.743+13C>G
|
|
|
NM_152419.3(HGSNAT):c.743+17G>A
|
rs1245020116
|
|
NM_152419.3(HGSNAT):c.743+7G>A
|
rs750677179
|
|
NM_152419.3(HGSNAT):c.744-10C>A
|
rs1803651376
|
|
NM_152419.3(HGSNAT):c.744-15G>T
|
|
|
NM_152419.3(HGSNAT):c.744-18T>A
|
|
|
NM_152419.3(HGSNAT):c.744-19C>G
|
|
|
NM_152419.3(HGSNAT):c.744-20T>G
|
|
|
NM_152419.3(HGSNAT):c.744-4C>G
|
rs1312600583
|
|
NM_152419.3(HGSNAT):c.744-5_744-3del
|
rs776162529
|
|
NM_152419.3(HGSNAT):c.744-6T>C
|
|
|
NM_152419.3(HGSNAT):c.750T>C (p.Ala250=)
|
|
|
NM_152419.3(HGSNAT):c.75C>T (p.Pro25=)
|
|
|
NM_152419.3(HGSNAT):c.768T>C (p.Phe256=)
|
rs1188844284
|
|
NM_152419.3(HGSNAT):c.771C>T (p.Val257=)
|
|
|
NM_152419.3(HGSNAT):c.78C>T (p.Gly26=)
|
rs1260742657
|
|
NM_152419.3(HGSNAT):c.792T>C (p.Tyr264=)
|
|
|
NM_152419.3(HGSNAT):c.807T>C (p.His269=)
|
|
|
NM_152419.3(HGSNAT):c.81C>T (p.Gly27=)
|
|
|
NM_152419.3(HGSNAT):c.820+19G>C
|
|
|
NM_152419.3(HGSNAT):c.820+7T>C
|
|
|
NM_152419.3(HGSNAT):c.821-14T>C
|
|
|
NM_152419.3(HGSNAT):c.821-20G>T
|
|
|
NM_152419.3(HGSNAT):c.821-26G>A
|
|
|
NM_152419.3(HGSNAT):c.821-27T>G
|
rs999398262
|
|
NM_152419.3(HGSNAT):c.821-30T>C
|
rs2130754670
|
|
NM_152419.3(HGSNAT):c.821-31C>T
|
|
|
NM_152419.3(HGSNAT):c.821-4G>T
|
rs2130754740
|
|
NM_152419.3(HGSNAT):c.821-5del
|
|
|
NM_152419.3(HGSNAT):c.821-9G>A
|
rs576856787
|
|
NM_152419.3(HGSNAT):c.821-9G>C
|
|
|
NM_152419.3(HGSNAT):c.821-9G>T
|
rs576856787
|
|
NM_152419.3(HGSNAT):c.823C>T (p.Leu275=)
|
|
|
NM_152419.3(HGSNAT):c.851+10C>G
|
rs778394235
|
|
NM_152419.3(HGSNAT):c.851+10C>T
|
rs778394235
|
|
NM_152419.3(HGSNAT):c.851+11G>A
|
|
|
NM_152419.3(HGSNAT):c.851+11G>C
|
|
|
NM_152419.3(HGSNAT):c.851+14C>G
|
rs2130754963
|
|
NM_152419.3(HGSNAT):c.851+16G>C
|
|
|
NM_152419.3(HGSNAT):c.851+16G>T
|
rs1049678342
|
|
NM_152419.3(HGSNAT):c.851+17C>T
|
|
|
NM_152419.3(HGSNAT):c.851+19C>A
|
|
|
NM_152419.3(HGSNAT):c.851+19C>G
|
|
|
NM_152419.3(HGSNAT):c.851+19C>T
|
rs1803714783
|
|
NM_152419.3(HGSNAT):c.852-13A>G
|
rs2130766120
|
|
NM_152419.3(HGSNAT):c.852-16A>G
|
|
|
NM_152419.3(HGSNAT):c.852-7T>G
|
rs2130766132
|
|
NM_152419.3(HGSNAT):c.852-8C>G
|
|
|
NM_152419.3(HGSNAT):c.888G>C (p.Ser296=)
|
|
|
NM_152419.3(HGSNAT):c.909G>A (p.Arg303=)
|
|
|
NM_152419.3(HGSNAT):c.90G>C (p.Gly30=)
|
rs1187482453
|
|
NM_152419.3(HGSNAT):c.912G>T (p.Gly304=)
|
rs771023375
|
|
NM_152419.3(HGSNAT):c.918A>G (p.Ser306=)
|
|
|
NM_152419.3(HGSNAT):c.933G>T (p.Leu311=)
|
rs1458945407
|
|
NM_152419.3(HGSNAT):c.93C>G (p.Arg31=)
|
|
|
NM_152419.3(HGSNAT):c.93C>T (p.Arg31=)
|
|
|
NM_152419.3(HGSNAT):c.945A>T (p.Ala315=)
|
|
|
NM_152419.3(HGSNAT):c.951G>A (p.Arg317=)
|
rs2130766469
|
|
NM_152419.3(HGSNAT):c.996T>C (p.Asn332=)
|
rs1803883258
|
|
NM_152419.3(HGSNAT):c.999T>C (p.Tyr333=)
|
|
|
NM_152419.3(HGSNAT):c.99C>A (p.Ala33=)
|
rs1586689721
|
|
NM_152419.3(HGSNAT):c.99C>G (p.Ala33=)
|
rs1586689721
|
|
NM_152419.3(HGSNAT):c.99C>T (p.Ala33=)
|
|
|
NM_152419.3(HGSNAT):c.9G>A (p.Gly3=)
|
|
|
NM_198586.3(NHLRC1):c.1036T>C (p.Leu346=)
|
rs2150702721
|
|
NM_198586.3(NHLRC1):c.1065G>C (p.Pro355=)
|
rs752799460
|
|
NM_198586.3(NHLRC1):c.108G>A (p.Arg36=)
|
rs903344687
|
|
NM_198586.3(NHLRC1):c.1185G>A (p.Gly395=)
|
rs760726977
|
|
NM_198586.3(NHLRC1):c.123G>A (p.Pro41=)
|
rs1161024300
|
|
NM_198586.3(NHLRC1):c.123G>C (p.Pro41=)
|
rs1161024300
|
|
NM_198586.3(NHLRC1):c.126C>T (p.Arg42=)
|
|
|
NM_198586.3(NHLRC1):c.129C>T (p.Asn43=)
|
rs1438368642
|
|
NM_198586.3(NHLRC1):c.135C>G (p.Ser45=)
|
rs2150703342
|
|
NM_198586.3(NHLRC1):c.138C>T (p.Cys46=)
|
rs1489142985
|
|
NM_198586.3(NHLRC1):c.147G>A (p.Val49=)
|
|
|
NM_198586.3(NHLRC1):c.150C>T (p.Val50=)
|
|
|
NM_198586.3(NHLRC1):c.171C>T (p.Ala57=)
|
rs2150703320
|
|
NM_198586.3(NHLRC1):c.195C>A (p.Ala65=)
|
rs370573413
|
|
NM_198586.3(NHLRC1):c.195C>T (p.Ala65=)
|
rs370573413
|
|
NM_198586.3(NHLRC1):c.228G>T (p.Arg76=)
|
rs1409114977
|
|
NM_198586.3(NHLRC1):c.234C>T (p.Cys78=)
|
rs755232826
|
|
NM_198586.3(NHLRC1):c.243C>T (p.Ser81=)
|
rs1174745955
|
|
NM_198586.3(NHLRC1):c.276C>G (p.Leu92=)
|
rs1203128687
|
|
NM_198586.3(NHLRC1):c.303G>A (p.Pro101=)
|
rs187783545
|
|
NM_198586.3(NHLRC1):c.318C>T (p.Ala106=)
|
rs2150703205
|
|
NM_198586.3(NHLRC1):c.321C>T (p.Ala107=)
|
rs772440533
|
|
NM_198586.3(NHLRC1):c.336A>G (p.Gly112=)
|
|
|
NM_198586.3(NHLRC1):c.354C>T (p.His118=)
|
rs2150703182
|
|
NM_198586.3(NHLRC1):c.360C>T (p.Phe120=)
|
rs754279385
|
|
NM_198586.3(NHLRC1):c.372G>A (p.Gly124=)
|
|
|
NM_198586.3(NHLRC1):c.372G>C (p.Gly124=)
|
|
|
NM_198586.3(NHLRC1):c.378G>C (p.Leu126=)
|
|
|
NM_198586.3(NHLRC1):c.399G>T (p.Ala133=)
|
rs1382326927
|
|
NM_198586.3(NHLRC1):c.414G>C (p.Thr138=)
|
|
|
NM_198586.3(NHLRC1):c.423C>G (p.Val141=)
|
|
|
NM_198586.3(NHLRC1):c.45C>A (p.Leu15=)
|
rs770992577
|
|
NM_198586.3(NHLRC1):c.483G>A (p.Ala161=)
|
rs1783746446
|
|
NM_198586.3(NHLRC1):c.507C>T (p.Asp169=)
|
|
|
NM_198586.3(NHLRC1):c.525G>A (p.Arg175=)
|
rs1414840416
|
|
NM_198586.3(NHLRC1):c.618G>A (p.Gln206=)
|
rs747084695
|
|
NM_198586.3(NHLRC1):c.630C>A (p.Val210=)
|
rs2150702986
|
|
NM_198586.3(NHLRC1):c.69G>A (p.Leu23=)
|
rs1170288661
|
|
NM_198586.3(NHLRC1):c.702G>A (p.Ala234=)
|
|
|
NM_198586.3(NHLRC1):c.705G>A (p.Glu235=)
|
rs1783741826
|
|
NM_198586.3(NHLRC1):c.711G>T (p.Gly237=)
|
|
|
NM_198586.3(NHLRC1):c.738C>T (p.Phe246=)
|
rs1561881781
|
|
NM_198586.3(NHLRC1):c.747G>A (p.Gly249=)
|
rs1582029822
|
|
NM_198586.3(NHLRC1):c.756G>A (p.Arg252=)
|
rs2150702898
|
|
NM_198586.3(NHLRC1):c.757A>C (p.Arg253=)
|
|
|
NM_198586.3(NHLRC1):c.807G>A (p.Val269=)
|
|
|
NM_198586.3(NHLRC1):c.831G>A (p.Ala277=)
|
|
|
NM_198586.3(NHLRC1):c.831G>C (p.Ala277=)
|
rs556216487
|
|
NM_198586.3(NHLRC1):c.831G>T (p.Ala277=)
|
rs556216487
|
|
NM_198586.3(NHLRC1):c.837G>A (p.Leu279=)
|
|
|
NM_198586.3(NHLRC1):c.969C>A (p.Ser323=)
|
|
|
NM_198586.3(NHLRC1):c.9C>G (p.Ala3=)
|
|
|