ClinVar Miner

List of variants reported as likely benign for carbohydrate metabolism disease by Invitae

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18555
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HGVS dbSNP gnomAD frequency
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=)
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
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
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
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=)
NM_000642.3(AGL):c.3609C>G (p.Val1203=)
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=)
NM_000642.3(AGL):c.3660G>A (p.Arg1220=)
NM_000642.3(AGL):c.3666T>A (p.Ala1222=)
NM_000642.3(AGL):c.3666T>C (p.Ala1222=) rs1405081089
NM_000642.3(AGL):c.3669T>C (p.Gly1223=)
NM_000642.3(AGL):c.366A>T (p.Leu122=) rs1386596170
NM_000642.3(AGL):c.3681T>C (p.Asp1227=)
NM_000642.3(AGL):c.3682C>A (p.Arg1228=) rs113994131
NM_000642.3(AGL):c.369C>T (p.Pro123=)
NM_000642.3(AGL):c.3700+12T>A
NM_000642.3(AGL):c.3700+12T>C
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
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
NM_001164277.2(SLC37A4):c.985+15C>G
NM_001164277.2(SLC37A4):c.985+18G>A
NM_001164277.2(SLC37A4):c.985+20C>T rs1453624071
NM_001164277.2(SLC37A4):c.985+9G>C
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=)

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