ClinVar Miner

List of variants reported as likely pathogenic for carbohydrate metabolism disease

Included ClinVar conditions (304):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5457
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HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu) rs1169288 0.35489
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_005327.7(HADH):c.662G>A (p.Arg221His) rs76476980 0.00358
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile) rs75442795 0.00172
NM_000290.4(PGAM2):c.233G>A (p.Trp78Ter) rs10250779 0.00166
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258 0.00161
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693 0.00154
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_001041.4(SI):c.1730T>G (p.Val577Gly) rs121912615 0.00131
NM_004130.4(GYG1):c.304G>C (p.Asp102His) rs143137713 0.00109
NM_001041.4(SI):c.5234T>G (p.Phe1745Cys) rs79717168 0.00108
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690 0.00094
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) rs374550999 0.00093
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) rs137853247 0.00076
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678 0.00074
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529 0.00067
NM_001360016.2(G6PD):c.582C>G (p.Asp194Glu) rs145247580 0.00063
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) rs137853242 0.00060
NM_000027.4(AGA):c.488G>C (p.Cys163Ser) rs121964904 0.00055
NM_003805.5(CRADD):c.509G>A (p.Arg170His) rs141179774 0.00053
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys) rs121434532 0.00052
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_017755.6(NSUN2):c.529C>T (p.His177Tyr) rs149196615 0.00044
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635 0.00039
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) rs200856561 0.00038
NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser) rs201346206 0.00038
NM_000203.5(IDUA):c.1577T>C (p.Leu526Pro) rs781136336 0.00035
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175 0.00034
NM_001041.4(SI):c.4099A>G (p.Arg1367Gly) rs143388292 0.00034
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546 0.00033
NM_015275.3(WASHC4):c.1508A>G (p.His503Arg) rs201428088 0.00032
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter) rs201337954 0.00031
NM_153747.2(PIGC):c.61C>T (p.Arg21Ter) rs115209243 0.00031
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671 0.00029
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000152.5(GAA):c.922C>T (p.His308Tyr) rs112025212 0.00024
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu) rs146136265 0.00024
NM_000507.4(FBP1):c.960_961insG (p.Ser321fs) rs757653154 0.00022
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_000207.3(INS):c.-153C>G rs915076855 0.00019
NM_053013.4(ENO3):c.467G>A (p.Gly156Asp) rs121918403 0.00019
NM_175914.5(HNF4A):c.724G>A (p.Val242Met) rs139779712 0.00019
NM_000434.4(NEU1):c.649G>A (p.Val217Met) rs28940583 0.00017
NM_000512.5(GALNS):c.850T>G (p.Phe284Val) rs144067930 0.00017
NM_000402.4(G6PD):c.556G>A (p.Glu186Lys) rs137852313 0.00016
NM_004130.4(GYG1):c.143+3G>C rs370652040 0.00016
NM_138413.4(HOGA1):c.107C>T (p.Ala36Val) rs201803986 0.00016
NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter) rs766383135 0.00014
NM_000642.3(AGL):c.256C>T (p.Gln86Ter) rs193186112 0.00014
NM_001041.4(SI):c.4251T>G (p.Tyr1417Ter) rs142090504 0.00014
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr) rs181396238 0.00014
NM_003041.4(SLC5A2):c.885+5G>A rs200228142 0.00014
NM_005908.4(MANBA):c.1499G>A (p.Arg500His) rs147542645 0.00014
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln) rs145078268 0.00013
NM_000293.3(PHKB):c.1127-2A>G rs535749057 0.00012
NM_000365.6(TPI1):c.315G>C (p.Glu105Asp) rs121964845 0.00012
NM_194436.3(LDHD):c.1319C>T (p.Thr440Met) rs764877688 0.00012
NM_000030.3(AGXT):c.949C>T (p.Arg317Trp) rs774030578 0.00011
NM_000352.6(ABCC8):c.1562G>A (p.Arg521Gln) rs368114790 0.00011
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter) rs12118058 0.00011
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser) rs138818907 0.00011
NM_005908.4(MANBA):c.1913G>A (p.Arg638His) rs781584789 0.00011
NM_012203.2(GRHPR):c.742G>A (p.Val248Ile) rs369950120 0.00011
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928 0.00010
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) rs118204429 0.00010
NM_000154.2(GALK1):c.766C>T (p.Arg256Trp) rs376790302 0.00010
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_005327.7(HADH):c.676T>C (p.Tyr226His) rs146036912 0.00010
NM_000152.5(GAA):c.1979G>A (p.Arg660His) rs374143224 0.00009
NM_000528.4(MAN2B1):c.2299C>T (p.Gln767Ter) rs779769525 0.00009
NM_001352514.2(HLCS):c.1974dup (p.Val659fs) rs767533946 0.00009
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102 0.00009
NM_001370658.1(BTD):c.262A>G (p.Ile88Val) rs976185636 0.00009
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln) rs373190458 0.00009
NM_005609.4(PYGM):c.425-26A>G rs764313717 0.00009
NM_006618.5(KDM5B):c.2474+1G>A rs542983923 0.00009
NM_021957.4(GYS2):c.1436C>A (p.Pro479Gln) rs121918420 0.00009
NM_021957.4(GYS2):c.495+1G>T rs372079212 0.00009
NM_021957.4(GYS2):c.736C>T (p.Arg246Ter) rs121918419 0.00009
NM_138413.4(HOGA1):c.860G>T (p.Gly287Val) rs138207257 0.00009
NM_145262.4(GLYCTK):c.1478T>G (p.Phe493Cys) rs121909448 0.00009
NM_000152.5(GAA):c.1194+3G>C rs368539333 0.00008
NM_000152.5(GAA):c.1552-3C>G rs375470378 0.00008
NM_000152.5(GAA):c.853C>T (p.Pro285Ser) rs886042086 0.00008
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) rs199801029 0.00008
NM_000402.4(G6PD):c.185A>G (p.His62Arg) rs137852340 0.00008
NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln) rs564428355 0.00008
NM_000512.5(GALNS):c.337A>T (p.Ile113Phe) rs118204438 0.00008
NM_005609.4(PYGM):c.1363G>A (p.Gly455Ser) rs201042910 0.00008
NM_000030.3(AGXT):c.822G>C (p.Glu274Asp) rs146525143 0.00007
NM_000046.5(ARSB):c.667A>G (p.Ile223Val) rs367650121 0.00007
NM_000152.5(GAA):c.1048G>A (p.Val350Met) rs200412003 0.00007
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser) rs375690568 0.00007
NM_000290.4(PGAM2):c.266A>C (p.Glu89Ala) rs104894030 0.00007
NM_000293.3(PHKB):c.1090G>T (p.Glu364Ter) rs371296953 0.00007
NM_000343.4(SLC5A1):c.1370A>G (p.Gln457Arg) rs200401846 0.00007
NM_000528.4(MAN2B1):c.2046+2T>A rs748712495 0.00007
NM_005609.4(PYGM):c.1768+1G>A rs771427957 0.00007
NM_012203.2(GRHPR):c.139C>T (p.Arg47Ter) rs774654020 0.00007
NM_012434.5(SLC17A5):c.1138_1139del (p.Val380fs) rs386833988 0.00007
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu) rs80338795 0.00007
NM_138413.4(HOGA1):c.569C>T (p.Pro190Leu) rs202047589 0.00007
NM_000030.3(AGXT):c.167T>A (p.Ile56Asn) rs180177180 0.00006
NM_000030.3(AGXT):c.698G>A (p.Arg233His) rs121908527 0.00006
NM_000035.4(ALDOB):c.1027T>C (p.Tyr343His) rs369586696 0.00006
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys) rs121964992 0.00006
NM_000152.5(GAA):c.1124G>A (p.Arg375His) rs142752477 0.00006
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu) rs147327209 0.00006
NM_000152.5(GAA):c.2456G>A (p.Arg819Gln) rs374687883 0.00006
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324 0.00006
NM_000152.5(GAA):c.655G>A (p.Gly219Arg) rs370950728 0.00006
NM_000152.5(GAA):c.761C>T (p.Ser254Leu) rs577915581 0.00006
NM_000152.5(GAA):c.953T>C (p.Met318Thr) rs121907936 0.00006
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter) rs137852888 0.00006
NM_000158.4(GBE1):c.555+1G>T rs759707498 0.00006
NM_000158.4(GBE1):c.785G>A (p.Arg262His) rs369574719 0.00006
NM_000289.6(PFKM):c.237+1G>A rs202143236 0.00006
NM_000404.4(GLB1):c.1256G>A (p.Arg419Gln) rs780634117 0.00006
NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg) rs371582179 0.00006
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg) rs376710410 0.00006
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys) rs118204437 0.00006
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681 0.00006
NM_000545.8(HNF1A):c.1061C>T (p.Thr354Met) rs757068809 0.00006
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter) rs267606640 0.00006
NM_000642.3(AGL):c.4260-12A>G rs369973784 0.00006
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln) rs113994145 0.00006
NM_002103.5(GYS1):c.162_163del (p.Asp56fs) rs587777375 0.00006
NM_002103.5(GYS1):c.678+1G>A rs755305465 0.00006
NM_002863.5(PYGL):c.1620+1G>A rs113993981 0.00006
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg) rs144081869 0.00006
NM_005908.4(MANBA):c.1922G>A (p.Arg641His) rs569997475 0.00006
NM_012203.2(GRHPR):c.734+1G>A rs148049120 0.00006
NM_012434.5(SLC17A5):c.533del (p.Thr178fs) rs727504156 0.00006
NM_014026.6(DCPS):c.947C>T (p.Thr316Met) rs137941190 0.00006
NM_021957.4(GYS2):c.116A>G (p.Asn39Ser) rs121918423 0.00006
NM_000030.3(AGXT):c.353G>A (p.Arg118His) rs138025751 0.00005
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys) rs121908526 0.00005
NM_000046.5(ARSB):c.1450A>G (p.Arg484Gly) rs201101343 0.00005
NM_000046.5(ARSB):c.937C>G (p.Pro313Ala) rs749989641 0.00005
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val) rs104894565 0.00005
NM_000151.4(G6PC1):c.189G>A (p.Trp63Ter) rs764920787 0.00005
NM_000152.5(GAA):c.1409A>C (p.Asn470Thr) rs144155165 0.00005
NM_000158.4(GBE1):c.1544G>A (p.Arg515His) rs201958741 0.00005
NM_000175.5(GPI):c.671C>T (p.Thr224Met) rs61754634 0.00005
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn) rs753472891 0.00005
NM_000292.3(PHKA2):c.4C>G (p.Arg2Gly) rs140014925 0.00005
NM_000404.4(GLB1):c.602G>A (p.Arg201His) rs189115557 0.00005
NM_000512.5(GALNS):c.1559G>A (p.Trp520Ter) rs372893383 0.00005
NM_000925.4(PDHB):c.426A>G (p.Ile142Met) rs151247980 0.00005
NM_001370658.1(BTD):c.383G>A (p.Arg128His) rs367902696 0.00005
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys) rs369102875 0.00005
NM_002863.5(PYGL):c.1947C>A (p.Tyr649Ter) rs150547274 0.00005
NM_005609.4(PYGM):c.2178-1G>A rs143670942 0.00005
NM_012434.5(SLC17A5):c.719G>A (p.Trp240Ter) rs386833993 0.00005
NM_020374.4(C12orf4):c.983T>C (p.Leu328Pro) rs1468772495 0.00005
NM_138413.4(HOGA1):c.811C>T (p.Arg271Cys) rs367741588 0.00005
NM_000030.3(AGXT):c.568G>A (p.Gly190Arg) rs180177239 0.00004
NM_000030.3(AGXT):c.613T>C (p.Ser205Pro) rs121908520 0.00004
NM_000035.4(ALDOB):c.379+1G>T rs138121153 0.00004
NM_000046.5(ARSB):c.455G>A (p.Arg152Gln) rs776814144 0.00004
NM_000046.5(ARSB):c.971G>T (p.Gly324Val) rs398123125 0.00004
NM_000108.5(DLD):c.1382G>A (p.Gly461Glu) rs757275923 0.00004
NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys) rs104894567 0.00004
NM_000151.4(G6PC1):c.800C>T (p.Thr267Met) rs145296477 0.00004
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys) rs770610356 0.00004
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu) rs148842275 0.00004
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) rs140826989 0.00004
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer) rs781088002 0.00004
NM_000152.5(GAA):c.781G>A (p.Ala261Thr) rs543360994 0.00004
NM_000152.5(GAA):c.784G>A (p.Glu262Lys) rs201896815 0.00004
NM_000154.2(GALK1):c.1031C>T (p.Thr344Met) rs371517491 0.00004
NM_000154.2(GALK1):c.1045G>A (p.Gly349Ser) rs754967473 0.00004
NM_000155.4(GALT):c.1006A>T (p.Met336Leu) rs111033810 0.00004
NM_000155.4(GALT):c.512T>C (p.Phe171Ser) rs111033715 0.00004
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys) rs772802187 0.00004
NM_000158.4(GBE1):c.70del (p.Asp24fs) rs1407149518 0.00004
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala) rs770427750 0.00004
NM_000175.5(GPI):c.1336C>T (p.Arg446Ter) rs774419705 0.00004
NM_000181.4(GUSB):c.1617C>T (p.Ser539=) rs377519272 0.00004
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys) rs766938111 0.00004
NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys) rs772311757 0.00004
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp) rs777267343 0.00004
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser) rs143947056 0.00004
NM_000203.5(IDUA):c.1046A>G (p.Asp349Gly) rs371397270 0.00004
NM_000203.5(IDUA):c.793-1G>A rs762779421 0.00004
NM_000262.3(NAGA):c.324+1G>A rs140673721 0.00004
NM_000263.4(NAGLU):c.104T>C (p.Leu35Pro) rs1246249632 0.00004
NM_000263.4(NAGLU):c.1558C>T (p.Arg520Trp) rs992677795 0.00004
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln) rs104894598 0.00004
NM_000289.6(PFKM):c.298C>T (p.Arg100Ter) rs374547385 0.00004
NM_000292.3(PHKA2):c.2971G>A (p.Gly991Arg) rs750628677 0.00004
NM_000352.6(ABCC8):c.2041-21G>A rs746714109 0.00004
NM_000352.6(ABCC8):c.3640C>T (p.Arg1214Trp) rs139964066 0.00004
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg) rs137852676 0.00004
NM_000352.6(ABCC8):c.62T>A (p.Val21Asp) rs200670692 0.00004
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00004
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) rs137852331 0.00004
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp) rs145798311 0.00004
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp) rs761385192 0.00004
NM_000528.4(MAN2B1):c.2249G>A (p.Arg750Gln) rs373240866 0.00004
NM_001135055.2:c.769_770insCTACCTCCTTATCTTCTG rs781905246 0.00004
NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter) rs121908979 0.00004
NM_001352514.2(HLCS):c.2260dup (p.Ser754fs) rs766163167 0.00004
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter) rs146448211 0.00004
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys) rs397514345 0.00004
NM_001370658.1(BTD):c.873del (p.Ser291fs) rs397514395 0.00004
NM_002863.5(PYGL):c.2426C>T (p.Ser809Leu) rs760187622 0.00004
NM_003041.4(SLC5A2):c.1031C>T (p.Ala344Val) rs766548165 0.00004
NM_003041.4(SLC5A2):c.1280+1G>A rs554372141 0.00004
NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg) rs398124209 0.00004
NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln) rs150911354 0.00004
NM_005908.4(MANBA):c.1318-1G>T rs374545788 0.00004
NM_024989.4(PGAP1):c.2042del (p.Leu681fs) rs756609752 0.00004
NM_152419.3(HGSNAT):c.1031G>A (p.Arg344His) rs766835582 0.00004
NM_000027.4(AGA):c.319C>T (p.Arg107Ter) rs765070743 0.00003
NM_000027.4(AGA):c.439T>C (p.Ser147Pro) rs386833428 0.00003
NM_000027.4(AGA):c.677G>A (p.Gly226Asp) rs386833431 0.00003
NM_000030.3(AGXT):c.481G>T (p.Gly161Cys) rs180177227 0.00003
NM_000030.3(AGXT):c.847-3C>G rs180177286 0.00003
NM_000035.4(ALDOB):c.-11+1G>C rs181639417 0.00003
NM_000108.5(DLD):c.1081A>G (p.Met361Val) rs121964993 0.00003
NM_000152.5(GAA):c.1129G>C (p.Gly377Arg) rs752002666 0.00003
NM_000152.5(GAA):c.1316T>A (p.Met439Lys) rs747610090 0.00003
NM_000152.5(GAA):c.1909C>A (p.Leu637Met) rs763301606 0.00003
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp) rs776948121 0.00003
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172 0.00003
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp) rs121907938 0.00003
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys) rs144016984 0.00003
NM_000152.5(GAA):c.2455C>T (p.Arg819Trp) rs61736895 0.00003
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter) rs780321415 0.00003
NM_000152.5(GAA):c.2799+4A>G rs778032599 0.00003
NM_000152.5(GAA):c.307T>G (p.Cys103Gly) rs398123174 0.00003
NM_000152.5(GAA):c.503G>A (p.Arg168Gln) rs376685205 0.00003
NM_000152.5(GAA):c.546G>A (p.Thr182=) rs143523371 0.00003
NM_000154.2(GALK1):c.94G>A (p.Val32Met) rs104894576 0.00003
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys) rs111033814 0.00003
NM_000155.4(GALT):c.200G>A (p.Arg67His) rs758430398 0.00003
NM_000155.4(GALT):c.292G>A (p.Asp98Asn) rs111033670 0.00003
NM_000155.4(GALT):c.413C>T (p.Thr138Met) rs111033686 0.00003
NM_000155.4(GALT):c.602G>A (p.Arg201His) rs111033735 0.00003
NM_000155.4(GALT):c.857A>G (p.Tyr286Cys) rs367543262 0.00003
NM_000158.4(GBE1):c.1571G>A (p.Arg524Gln) rs80338673 0.00003
NM_000158.4(GBE1):c.293T>G (p.Val98Gly) rs775486403 0.00003
NM_000158.4(GBE1):c.708G>C (p.Gln236His) rs137852892 0.00003
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639 0.00003
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter) rs374621913 0.00003
NM_000203.5(IDUA):c.1487C>T (p.Pro496Leu) rs772416503 0.00003
NM_000203.5(IDUA):c.793G>C (p.Gly265Arg) rs369090960 0.00003
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His) rs104894590 0.00003
NM_000308.4(CTSA):c.601-2A>G rs778159802 0.00003
NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter) rs570388861 0.00003
NM_000352.6(ABCC8):c.2921-9G>A rs757171524 0.00003
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) rs137852342 0.00003
NM_000512.5(GALNS):c.107T>G (p.Leu36Arg) rs755832705 0.00003
NM_000512.5(GALNS):c.178G>A (p.Asp60Asn) rs118204447 0.00003
NM_000512.5(GALNS):c.269G>A (p.Arg90Gln) rs754731091 0.00003
NM_000512.5(GALNS):c.871G>A (p.Ala291Thr) rs118204448 0.00003
NM_000512.5(GALNS):c.884C>T (p.Ser295Phe) rs149239881 0.00003
NM_000525.4(KCNJ11):c.844G>A (p.Glu282Lys) rs267607196 0.00003
NM_000528.4(MAN2B1):c.1204G>A (p.Glu402Lys) rs370760999 0.00003
NM_000528.4(MAN2B1):c.2664+1G>A rs771953225 0.00003
NM_000545.8(HNF1A):c.467C>T (p.Thr156Met) rs150513055 0.00003
NM_000545.8(HNF1A):c.827C>G (p.Ala276Gly) rs137853245 0.00003
NM_000642.3(AGL):c.16C>T (p.Gln6Ter) rs113994126 0.00003
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter) rs387906244 0.00003
NM_001008216.2(GALE):c.505C>T (p.Arg169Trp) rs137853859 0.00003
NM_001041.4(SI):c.2401G>T (p.Glu801Ter) rs200972419 0.00003
NM_001041.4(SI):c.4825C>T (p.Arg1609Ter) rs200328403 0.00003
NM_001160372.4(TRAPPC9):c.1414C>T (p.Arg472Ter) rs267607137 0.00003
NM_001352514.2(HLCS):c.1960+5G>A rs753887925 0.00003
NM_001352514.2(HLCS):c.2121+1G>A rs1175936807 0.00003
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu) rs397514427 0.00003
NM_001370658.1(BTD):c.1568A>T (p.Asp523Val) rs1050035768 0.00003
NM_001370658.1(BTD):c.322T>G (p.Phe108Val) rs397514355 0.00003
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375 0.00003
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser) rs397514377 0.00003
NM_001931.5(DLAT):c.976-1G>A rs367875541 0.00003
NM_002076.4(GNS):c.1308+2T>C rs750645480 0.00003
NM_002103.5(GYS1):c.119-2_120del rs1422043936 0.00003
NM_002591.4(PCK1):c.724G>A (p.Gly242Arg) rs373906233 0.00003
NM_002637.4(PHKA1):c.2606+1G>A rs373517016 0.00003
NM_002863.5(PYGL):c.772+1G>A rs776545903 0.00003
NM_003384.3(VRK1):c.356A>G (p.His119Arg) rs371295780 0.00003
NM_003477.2(PDHX):c.-197delT rs1158194122 0.00003
NM_005327.7(HADH):c.706C>T (p.Arg236Ter) rs375717077 0.00003
NM_005609.4(PYGM):c.1190T>C (p.Leu397Pro) rs1005687078 0.00003
NM_005609.4(PYGM):c.1345G>A (p.Gly449Arg) rs769172044 0.00003
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp) rs780656375 0.00003
NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter) rs1057517001 0.00003
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter) rs767739769 0.00003
NM_006859.4(LIAS):c.737+1G>A rs546751789 0.00003
NM_012203.2(GRHPR):c.905G>A (p.Arg302His) rs180177323 0.00003
NM_014026.6(DCPS):c.454C>T (p.Arg152Ter) rs904572688 0.00003
NM_015275.3(WASHC4):c.3236A>G (p.Lys1079Arg) rs748436953 0.00003
NM_020374.4(C12orf4):c.1078C>T (p.Arg360Ter) rs374645146 0.00003
NM_138413.4(HOGA1):c.763C>T (p.Arg255Ter) rs796052086 0.00003
NM_138413.4(HOGA1):c.812G>A (p.Arg271His) rs750974539 0.00003
NM_138413.4(HOGA1):c.907C>T (p.Arg303Cys) rs149150736 0.00003
NM_138413.4(HOGA1):c.943_954dup (p.Glu315_Arg318dup) rs777828182 0.00003
NM_138413.4(HOGA1):c.953G>A (p.Arg318His) rs201347931 0.00003
NM_175914.5(HNF4A):c.1097C>G (p.Pro366Arg) rs193922469 0.00003
NM_000027.4(AGA):c.503G>A (p.Trp168Ter) rs386833430 0.00002
NM_000030.3(AGXT):c.106C>T (p.Arg36Cys) rs180177157 0.00002
NM_000030.3(AGXT):c.245G>A (p.Gly82Glu) rs121908522 0.00002
NM_000030.3(AGXT):c.346G>A (p.Gly116Arg) rs180177207 0.00002
NM_000030.3(AGXT):c.560C>T (p.Ser187Phe) rs180177238 0.00002
NM_000030.3(AGXT):c.653C>T (p.Ser218Leu) rs180177253 0.00002
NM_000035.4(ALDOB):c.800-2A>C rs199965465 0.00002
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr) rs118203941 0.00002
NM_000046.5(ARSB):c.305G>A (p.Arg102His) rs759356342 0.00002
NM_000151.4(G6PC1):c.14T>G (p.Met5Arg) rs1250172816 0.00002
NM_000151.4(G6PC1):c.648G>T (p.Leu216=) rs80356484 0.00002
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val) rs80356483 0.00002
NM_000152.5(GAA):c.1076-22T>G rs762260678 0.00002
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg) rs772883420 0.00002
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys) rs765362308 0.00002
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys) rs991082382 0.00002
NM_000152.5(GAA):c.1831G>A (p.Gly611Ser) rs1278340100 0.00002
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp) rs757617999 0.00002
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln) rs778418246 0.00002
NM_000152.5(GAA):c.317G>A (p.Arg106His) rs772534106 0.00002
NM_000152.5(GAA):c.460C>T (p.Arg154Cys) rs539841659 0.00002
NM_000152.5(GAA):c.858G>A (p.Thr286=) rs201056962 0.00002
NM_000152.5(GAA):c.971C>T (p.Pro324Leu) rs750030887 0.00002
NM_000154.2(GALK1):c.863C>T (p.Thr288Met) rs759284637 0.00002
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys) rs111033744 0.00002
NM_000155.4(GALT):c.688-2A>C rs398123185 0.00002
NM_000158.4(GBE1):c.1468del (p.Leu490fs) rs774465102 0.00002
NM_000158.4(GBE1):c.671T>C (p.Leu224Pro) rs137852886 0.00002
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter) rs121918185 0.00002
NM_000199.5(SGSH):c.1167C>A (p.Asn389Lys) rs764057581 0.00002
NM_000199.5(SGSH):c.301T>C (p.Phe101Leu) rs1322090067 0.00002
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg) rs761607612 0.00002
NM_000199.5(SGSH):c.383C>T (p.Pro128Leu) rs104894642 0.00002
NM_000202.8(IDS):c.1478G>A (p.Arg493His) rs782347729 0.00002
NM_000203.5(IDUA):c.1829-1G>A rs745915863 0.00002
NM_000203.5(IDUA):c.713T>A (p.Leu238Gln) rs148789453 0.00002
NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu) rs751203469 0.00002
NM_000263.4(NAGLU):c.2020C>T (p.Arg674Cys) rs763299645 0.00002
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys) rs753520553 0.00002
NM_000308.4(CTSA):c.1318T>G (p.Phe440Val) rs137854540 0.00002
NM_000352.6(ABCC8):c.1501G>A (p.Glu501Lys) rs372307320 0.00002
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722 0.00002
NM_000352.6(ABCC8):c.4308-2A>G rs886041391 0.00002
NM_000402.4(G6PD):c.298T>C (p.Tyr100His) rs137852349 0.00002
NM_000402.4(G6PD):c.944G>A (p.Arg315His) rs74575103 0.00002
NM_000404.4(GLB1):c.1321G>A (p.Asp441Asn) rs780724173 0.00002
NM_000404.4(GLB1):c.1343A>T (p.Asp448Val) rs757926581 0.00002
NM_000404.4(GLB1):c.175C>T (p.Arg59Cys) rs756878418 0.00002
NM_000404.4(GLB1):c.451G>A (p.Asp151Asn) rs375582374 0.00002
NM_000404.4(GLB1):c.557A>C (p.Glu186Ala) rs779023917 0.00002
NM_000404.4(GLB1):c.716C>T (p.Thr239Met) rs746766232 0.00002
NM_000404.4(GLB1):c.841C>T (p.His281Tyr) rs745386663 0.00002
NM_000434.4(NEU1):c.893C>T (p.Ala298Val) rs104893981 0.00002
NM_000507.4(FBP1):c.355G>A (p.Asp119Asn) rs758609113 0.00002
NM_000512.5(GALNS):c.1108C>T (p.Pro370Ser) rs749891007 0.00002
NM_000512.5(GALNS):c.245C>T (p.Ser82Leu) rs371429653 0.00002
NM_000512.5(GALNS):c.319G>A (p.Ala107Thr) rs763184657 0.00002
NM_000512.5(GALNS):c.776G>A (p.Arg259Gln) rs118204442 0.00002
NM_000512.5(GALNS):c.935C>G (p.Thr312Ser) rs118204446 0.00002
NM_000512.5(GALNS):c.938C>T (p.Thr313Met) rs894525161 0.00002
NM_000512.5(GALNS):c.986A>C (p.His329Pro) rs760892654 0.00002
NM_000528.4(MAN2B1):c.1026+2T>G rs369099686 0.00002
NM_000528.4(MAN2B1):c.1929-1G>T rs763100457 0.00002
NM_000528.4(MAN2B1):c.2140T>C (p.Trp714Arg) rs864621993 0.00002
NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter) rs121434331 0.00002
NM_000528.4(MAN2B1):c.2867T>G (p.Leu956Arg) rs768233248 0.00002
NM_000545.8(HNF1A):c.29C>T (p.Thr10Met) rs774637975 0.00002
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter) rs113994129 0.00002
NM_000925.4(PDHB):c.956A>T (p.Asp319Val) rs199983136 0.00002
NM_001008216.2(GALE):c.151C>T (p.Arg51Trp) rs780517804 0.00002
NM_001008216.2(GALE):c.905G>A (p.Gly302Asp) rs137853861 0.00002
NM_001164277.2(SLC37A4):c.1099G>A (p.Ala367Thr) rs80356492 0.00002
NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter) rs781784543 0.00002
NM_001352514.2(HLCS):c.1529T>A (p.Val510Asp) rs769499327 0.00002
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys) rs781603756 0.00002
NM_001352514.2(HLCS):c.1985G>A (p.Ser662Asn) rs773398782 0.00002
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn) rs119103228 0.00002
NM_001360016.2(G6PD):c.209A>G (p.Tyr70Cys) rs782090947 0.00002
NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys) rs979416826 0.00002
NM_001360016.2(G6PD):c.477G>C (p.Met159Ile) rs370918918 0.00002
NM_001360016.2(G6PD):c.703C>T (p.Leu235Phe) rs782757170 0.00002
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val) rs104893686 0.00002
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr) rs104893692 0.00002
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn) rs397514367 0.00002
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr) rs397514369 0.00002
NM_001739.2(CA5A):c.721G>A (p.Glu241Lys) rs563971993 0.00002
NM_002591.4(PCK1):c.961+1G>A rs776767788 0.00002
NM_003041.4(SLC5A2):c.1102C>T (p.Arg368Trp) rs148410166 0.00002
NM_003384.3(VRK1):c.216+1G>C rs774518440 0.00002
NM_004130.4(GYG1):c.7+1G>A rs949456055 0.00002
NM_005609.4(PYGM):c.1366G>A (p.Val456Met) rs398124208 0.00002
NM_005609.4(PYGM):c.1760T>C (p.Leu587Pro) rs761438921 0.00002
NM_005609.4(PYGM):c.1768+2T>G rs747513238 0.00002
NM_005609.4(PYGM):c.1804C>T (p.Arg602Trp) rs750195683 0.00002
NM_005609.4(PYGM):c.2083G>A (p.Gly695Arg) rs768604948 0.00002
NM_005609.4(PYGM):c.252C>G (p.Tyr84Ter) rs1057517145 0.00002
NM_005609.4(PYGM):c.345+2T>A rs1219299972 0.00002
NM_005609.4(PYGM):c.481C>T (p.Arg161Cys) rs200038732 0.00002
NM_005609.4(PYGM):c.875T>C (p.Leu292Pro) rs780375860 0.00002
NM_005908.4(MANBA):c.378+1G>A rs142029636 0.00002
NM_005908.4(MANBA):c.544C>T (p.Arg182Trp) rs374377679 0.00002
NM_005908.4(MANBA):c.550-1G>A rs760404534 0.00002
NM_012203.2(GRHPR):c.735-1G>A rs180177317 0.00002
NM_012203.2(GRHPR):c.866-2A>G rs200316691 0.00002
NM_012434.5(SLC17A5):c.291G>A (p.Thr97=) rs386833990 0.00002
NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer) rs386833992 0.00002
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_018255.4(ELP2):c.1385G>A (p.Arg462Gln) rs371310428 0.00002
NM_018255.4(ELP2):c.178C>T (p.Arg60Ter) rs553697188 0.00002
NM_018297.4(NGLY1):c.978_980del (p.Glu326_Ala327delinsAsp) rs761634625 0.00002
NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys) rs267606762 0.00002
NM_138413.4(HOGA1):c.331G>A (p.Gly111Arg) rs200529020 0.00002
NM_138413.4(HOGA1):c.385G>A (p.Gly129Arg) rs778171847 0.00002
NM_152419.3(HGSNAT):c.1250+1G>A rs398124544 0.00002
NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys) rs753355844 0.00002
NM_198586.3(NHLRC1):c.361G>A (p.Gly121Ser) rs780082503 0.00002
NM_000027.4(AGA):c.1A>G (p.Met1Val) rs1054938291 0.00001
NM_000027.4(AGA):c.301G>A (p.Ala101Thr) rs752914246 0.00001
NM_000027.4(AGA):c.395-8A>G rs386833426 0.00001
NM_000027.4(AGA):c.404T>C (p.Phe135Ser) rs386833427 0.00001
NM_000027.4(AGA):c.473G>A (p.Trp158Ter) rs745976989 0.00001
NM_000027.4(AGA):c.508-2A>G rs986682657 0.00001
NM_000027.4(AGA):c.770C>T (p.Thr257Ile) rs386833434 0.00001
NM_000027.4(AGA):c.800dup (p.Pro268fs) rs386833436 0.00001
NM_000027.4(AGA):c.86del (p.Leu29fs) rs764598121 0.00001
NM_000027.4(AGA):c.940+1G>T rs386833437 0.00001
NM_000030.3(AGXT):c.1079G>A (p.Arg360Gln) rs180177161 0.00001
NM_000030.3(AGXT):c.107G>A (p.Arg36His) rs180177162 0.00001
NM_000030.3(AGXT):c.1084G>A (p.Gly362Ser) rs569643246 0.00001
NM_000030.3(AGXT):c.116_117dup (p.Ala40fs) rs180177166 0.00001
NM_000030.3(AGXT):c.122G>T (p.Gly41Val) rs180177168 0.00001
NM_000030.3(AGXT):c.215A>T (p.Asn72Ile) rs113879010 0.00001
NM_000030.3(AGXT):c.242C>T (p.Ser81Leu) rs180177184 0.00001
NM_000030.3(AGXT):c.2T>C (p.Met1Thr) rs138584408 0.00001
NM_000030.3(AGXT):c.332G>A (p.Arg111Gln) rs180177203 0.00001
NM_000030.3(AGXT):c.601G>A (p.Asp201Asn) rs886055840 0.00001
NM_000030.3(AGXT):c.752G>A (p.Trp251Ter) rs786204545 0.00001
NM_000030.3(AGXT):c.777-1G>C rs180177267 0.00001
NM_000030.3(AGXT):c.907C>T (p.Gln303Ter) rs180177294 0.00001
NM_000030.3(AGXT):c.976del (p.Val326fs) rs180177301 0.00001
NM_000035.4(ALDOB):c.*516T>A rs1402343211 0.00001
NM_000035.4(ALDOB):c.1095G>C (p.Ter365Tyr) rs900220679 0.00001
NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp) rs41281039 0.00001
NM_000035.4(ALDOB):c.2T>C (p.Met1Thr) rs1270747182 0.00001
NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter) rs370793608 0.00001
NM_000046.5(ARSB):c.1336+1G>A rs376233975 0.00001
NM_000046.5(ARSB):c.1340G>C (p.Cys447Ser) rs1465993279 0.00001
NM_000046.5(ARSB):c.1350G>C (p.Trp450Cys) rs555785323 0.00001
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg) rs397514441 0.00001
NM_000046.5(ARSB):c.245del (p.Leu82fs) rs750845916 0.00001
NM_000046.5(ARSB):c.247G>T (p.Asp83Tyr) rs1247117898 0.00001
NM_000046.5(ARSB):c.275C>T (p.Thr92Met) rs751010538 0.00001
NM_000046.5(ARSB):c.284G>A (p.Arg95Gln) rs118203942 0.00001
NM_000046.5(ARSB):c.328C>T (p.Gln110Ter) rs1554088099 0.00001
NM_000046.5(ARSB):c.349T>C (p.Cys117Arg) rs118203939 0.00001
NM_000046.5(ARSB):c.430G>A (p.Gly144Arg) rs746206847 0.00001
NM_000046.5(ARSB):c.499G>A (p.Gly167Arg) rs1554087999 0.00001
NM_000046.5(ARSB):c.628T>C (p.Tyr210His) rs769313336 0.00001
NM_000046.5(ARSB):c.691-1G>A rs778868348 0.00001
NM_000046.5(ARSB):c.900T>A (p.Asp300Glu) rs1280123243 0.00001
NM_000046.5(ARSB):c.934T>C (p.Trp312Arg) rs398123124 0.00001
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln) rs727503809 0.00001
NM_000108.5(DLD):c.1463C>T (p.Pro488Leu) rs121964988 0.00001
NM_000108.5(DLD):c.684+1G>T rs780025714 0.00001
NM_000108.5(DLD):c.803_804del (p.Gln268fs) rs764611160 0.00001
NM_000108.5(DLD):c.875+1G>A rs1328820332 0.00001
NM_000147.5(FUCA1):c.1229T>G (p.Leu410Arg) rs80358199 0.00001
NM_000151.4(G6PC1):c.161A>C (p.Gln54Pro) rs1057517008 0.00001
NM_000151.4(G6PC1):c.231-1G>A rs1555559279 0.00001
NM_000151.4(G6PC1):c.355C>T (p.His119Tyr) rs1332616844 0.00001
NM_000151.4(G6PC1):c.356A>G (p.His119Arg) rs1401928680 0.00001
NM_000151.4(G6PC1):c.370G>A (p.Ala124Thr) rs104894568 0.00001
NM_000151.4(G6PC1):c.447-1G>A rs1411037881 0.00001
NM_000151.4(G6PC1):c.532C>T (p.Pro178Ser) rs763543607 0.00001
NM_000151.4(G6PC1):c.665G>C (p.Gly222Ala) rs515726229 0.00001
NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter) rs80356485 0.00001
NM_000151.4(G6PC1):c.757del (p.Ile253fs) rs2056092619 0.00001
NM_000151.4(G6PC1):c.798del (p.Thr267fs) rs749323139 0.00001
NM_000151.4(G6PC1):c.808G>C (p.Gly270Arg) rs1272803483 0.00001
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys) rs104894563 0.00001
NM_000151.4(G6PC1):c.884G>A (p.Arg295His) rs375212414 0.00001
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu) rs755253527 0.00001
NM_000152.5(GAA):c.1222A>G (p.Met408Val) rs560575383 0.00001
NM_000152.5(GAA):c.1292_1295dup (p.Gln433fs) rs996798292 0.00001
NM_000152.5(GAA):c.1327-2A>G rs1410829147 0.00001
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe) rs886043148 0.00001
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs) rs770276275 0.00001
NM_000152.5(GAA):c.1441del (p.Trp481fs) rs1403500889 0.00001
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg) rs770590394 0.00001
NM_000152.5(GAA):c.1537G>A (p.Asp513Asn) rs748047271 0.00001
NM_000152.5(GAA):c.1551+1G>T rs770780848 0.00001
NM_000152.5(GAA):c.1556T>C (p.Met519Thr) rs786204720 0.00001
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys) rs121907937 0.00001
NM_000152.5(GAA):c.1564C>T (p.Pro522Ser) rs892129065 0.00001
NM_000152.5(GAA):c.1585T>G (p.Ser529Ala) rs1598582021 0.00001
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser) rs773576381 0.00001
NM_000152.5(GAA):c.1626C>G (p.Pro542=) rs947585663 0.00001
NM_000152.5(GAA):c.172C>T (p.Gln58Ter) rs201185475 0.00001
NM_000152.5(GAA):c.1754G>A (p.Arg585Lys) rs747373179 0.00001
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr) rs753505203 0.00001
NM_000152.5(GAA):c.1799G>A (p.Arg600His) rs377544304 0.00001
NM_000152.5(GAA):c.1802C>T (p.Ser601Leu) rs374470794 0.00001
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp) rs1393386120 0.00001
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter) rs786204727 0.00001
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg) rs549029029 0.00001
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn) rs753269119 0.00001
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser) rs536906561 0.00001
NM_000152.5(GAA):c.1943G>A (p.Gly648Asp) rs1448515860 0.00001
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn) rs763456921 0.00001
NM_000152.5(GAA):c.1962_1964del (p.Glu656del) rs1030961946 0.00001
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp) rs757111744 0.00001
NM_000152.5(GAA):c.2040+1G>T rs1057516928 0.00001
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys) rs786204645 0.00001
NM_000152.5(GAA):c.2174G>A (p.Arg725Gln) rs577042191 0.00001
NM_000152.5(GAA):c.2189+1G>T rs1209887739 0.00001
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly) rs1479740763 0.00001
NM_000152.5(GAA):c.2296T>A (p.Tyr766Asn) rs941181575 0.00001
NM_000152.5(GAA):c.2482-2A>G rs756671283 0.00001
NM_000152.5(GAA):c.2647-7G>A rs192679574 0.00001
NM_000152.5(GAA):c.265C>T (p.Arg89Cys) rs534192892 0.00001
NM_000152.5(GAA):c.2706del (p.Lys903fs) rs1428358278 0.00001
NM_000152.5(GAA):c.2783A>G (p.Tyr928Cys) rs1403885484 0.00001
NM_000152.5(GAA):c.281_282del (p.Pro94fs) rs1057516503 0.00001
NM_000152.5(GAA):c.2846T>A (p.Val949Asp) rs1245412108 0.00001
NM_000152.5(GAA):c.316C>T (p.Arg106Cys) rs915675670 0.00001
NM_000152.5(GAA):c.365del (p.Met122fs) rs786204661 0.00001
NM_000152.5(GAA):c.670C>T (p.Arg224Trp) rs757700700 0.00001
NM_000152.5(GAA):c.671G>A (p.Arg224Gln) rs200210219 0.00001
NM_000152.5(GAA):c.692+5G>T rs763027848 0.00001
NM_000152.5(GAA):c.743T>C (p.Leu248Pro) rs1443844938 0.00001
NM_000152.5(GAA):c.842G>A (p.Arg281Gln) rs772607616 0.00001
NM_000152.5(GAA):c.871C>T (p.Leu291Phe) rs773417785 0.00001
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys) rs1057516600 0.00001
NM_000152.5(GAA):c.952A>T (p.Met318Leu) rs886044506 0.00001
NM_000154.2(GALK1):c.166-1G>C rs142772020 0.00001
NM_000154.2(GALK1):c.520G>A (p.Glu174Lys) rs1363497653 0.00001
NM_000154.2(GALK1):c.841G>A (p.Val281Met) rs753571180 0.00001
NM_000154.2(GALK1):c.919_921del (p.Met307del) rs1247635972 0.00001
NM_000155.4(GALT):c.1014C>G (p.Gly338=) rs111033811 0.00001
NM_000155.4(GALT):c.1018G>A (p.Glu340Lys) rs111033806 0.00001
NM_000155.4(GALT):c.1138T>C (p.Ter380Arg) rs111033824 0.00001
NM_000155.4(GALT):c.142C>T (p.Arg48Cys) rs886042088 0.00001
NM_000155.4(GALT):c.199C>T (p.Arg67Cys) rs111033658 0.00001
NM_000155.4(GALT):c.241G>C (p.Ala81Pro) rs111033665 0.00001
NM_000155.4(GALT):c.307C>T (p.Gln103Ter) rs1225091358 0.00001
NM_000155.4(GALT):c.379A>G (p.Lys127Glu) rs111033682 0.00001
NM_000155.4(GALT):c.443G>A (p.Arg148Gln) rs111033694 0.00001
NM_000155.4(GALT):c.590A>G (p.Asp197Gly) rs1554709359 0.00001
NM_000155.4(GALT):c.601C>T (p.Arg201Cys) rs111033739 0.00001
NM_000155.4(GALT):c.610C>T (p.Arg204Ter) rs111033737 0.00001
NM_000155.4(GALT):c.691C>T (p.Arg231Cys) rs111033749 0.00001
NM_000155.4(GALT):c.692G>A (p.Arg231His) rs111033754 0.00001
NM_000155.4(GALT):c.752A>C (p.Tyr251Ser) rs111033755 0.00001
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217 0.00001
NM_000155.4(GALT):c.775C>T (p.Arg259Trp) rs786204763 0.00001
NM_000155.4(GALT):c.814C>T (p.Arg272Cys) rs111033766 0.00001
NM_000155.4(GALT):c.821-7A>G rs767337193 0.00001
NM_000155.4(GALT):c.883C>A (p.Pro295Thr) rs111033783 0.00001
NM_000155.4(GALT):c.938G>A (p.Trp313Ter) rs1410159094 0.00001
NM_000155.4(GALT):c.947G>A (p.Trp316Ter) rs111033790 0.00001
NM_000155.4(GALT):c.958G>A (p.Ala320Thr) rs111033795 0.00001
NM_000155.4(GALT):c.961C>T (p.His321Tyr) rs367543266 0.00001
NM_000155.4(GALT):c.974C>T (p.Pro325Leu) rs111033794 0.00001
NM_000155.4(GALT):c.982C>T (p.Arg328Cys) rs144993986 0.00001
NM_000155.4(GALT):c.983G>A (p.Arg328His) rs111033802 0.00001
NM_000155.4(GALT):c.998G>A (p.Arg333Gln) rs111033808 0.00001
NM_000158.4(GBE1):c.1063C>T (p.Arg355Cys) rs780431086 0.00001
NM_000158.4(GBE1):c.1064G>A (p.Arg355His) rs869312919 0.00001
NM_000158.4(GBE1):c.1239del (p.Asp413fs) rs758504480 0.00001
NM_000158.4(GBE1):c.1300C>T (p.Arg434Ter) rs781198373 0.00001
NM_000158.4(GBE1):c.1621A>G (p.Asn541Asp) rs1703086906 0.00001
NM_000158.4(GBE1):c.1655C>T (p.Pro552Leu) rs777589783 0.00001
NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp) rs552094593 0.00001
NM_000158.4(GBE1):c.1803+2T>C rs539203557 0.00001
NM_000158.4(GBE1):c.1823_1824del (p.His608fs) rs1175447973 0.00001
NM_000158.4(GBE1):c.1883A>G (p.His628Arg) rs137852891 0.00001
NM_000158.4(GBE1):c.2052+2T>C rs375596642 0.00001
NM_000158.4(GBE1):c.563A>C (p.His188Pro) rs773558446 0.00001
NM_000158.4(GBE1):c.721A>G (p.Met241Val) rs747155575 0.00001
NM_000158.4(GBE1):c.771T>A (p.Phe257Leu) rs137852887 0.00001
NM_000158.4(GBE1):c.784C>T (p.Arg262Cys) rs137852893 0.00001
NM_000158.4(GBE1):c.895G>T (p.Gly299Ter) rs779475367 0.00001
NM_000158.4(GBE1):c.993-1G>T rs763016962 0.00001
NM_000162.5(GCK):c.1042A>T (p.Ile348Phe) rs193922260 0.00001
NM_000162.5(GCK):c.1324G>A (p.Glu442Lys) rs758737171 0.00001
NM_000162.5(GCK):c.1364T>A (p.Val455Glu) rs753795627 0.00001
NM_000162.5(GCK):c.370G>A (p.Asp124Asn) rs759072800 0.00001
NM_000162.5(GCK):c.571C>T (p.Arg191Trp) rs1085307455 0.00001
NM_000162.5(GCK):c.622G>A (p.Ala208Thr) rs1476637197 0.00001
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934 0.00001
NM_000162.5(GCK):c.787T>C (p.Ser263Pro) rs193922331 0.00001
NM_000162.5(GCK):c.908G>A (p.Arg303Gln) rs1312678560 0.00001
NM_000162.5(GCK):c.952G>T (p.Gly318Trp) rs193922340 0.00001
NM_000175.5(GPI):c.1648A>G (p.Lys550Glu) rs933668811 0.00001
NM_000181.4(GUSB):c.1084G>A (p.Asp362Asn) rs398123234 0.00001
NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys) rs121918173 0.00001
NM_000181.4(GUSB):c.1145G>A (p.Arg382His) rs764018631 0.00001
NM_000181.4(GUSB):c.1881G>T (p.Trp627Cys) rs121918184 0.00001
NM_000181.4(GUSB):c.646C>T (p.Arg216Trp) rs121918174 0.00001
NM_000181.4(GUSB):c.893C>T (p.Ala298Val) rs1451709678 0.00001
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys) rs104894640 0.00001
NM_000199.5(SGSH):c.1138C>T (p.Gln380Ter) rs1424242431 0.00001
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser) rs1555620214 0.00001
NM_000199.5(SGSH):c.1225C>T (p.Gln409Ter) rs1323958195 0.00001
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln) rs104894641 0.00001
NM_000199.5(SGSH):c.130G>A (p.Ala44Thr) rs1057521146 0.00001
NM_000199.5(SGSH):c.1429G>A (p.Asp477Asn) rs1064795109 0.00001
NM_000199.5(SGSH):c.1429del (p.Asp477fs) rs781572815 0.00001
NM_000199.5(SGSH):c.1A>G (p.Met1Val) rs1250300189 0.00001
NM_000199.5(SGSH):c.268G>A (p.Gly90Arg) rs774010006 0.00001
NM_000199.5(SGSH):c.2T>C (p.Met1Thr) rs1488660868 0.00001
NM_000199.5(SGSH):c.416C>T (p.Thr139Met) rs775112689 0.00001
NM_000199.5(SGSH):c.448C>T (p.Arg150Trp) rs1479831530 0.00001
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln) rs104894638 0.00001
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys) rs529855742 0.00001
NM_000199.5(SGSH):c.545G>A (p.Arg182His) rs372911015 0.00001
NM_000199.5(SGSH):c.548G>A (p.Cys183Tyr) rs1329133410 0.00001
NM_000199.5(SGSH):c.571G>A (p.Gly191Arg) rs753666460 0.00001
NM_000199.5(SGSH):c.629G>A (p.Trp210Ter) rs886041370 0.00001
NM_000199.5(SGSH):c.812C>T (p.Thr271Met) rs746776254 0.00001
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn) rs1046551417 0.00001
NM_000199.5(SGSH):c.911G>T (p.Arg304Leu) rs745884647 0.00001
NM_000199.5(SGSH):c.975G>T (p.Trp325Cys) rs201413321 0.00001
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg) rs398123246 0.00001
NM_000202.8(IDS):c.1477C>T (p.Arg493Cys) rs782190885 0.00001
NM_000203.5(IDUA):c.1045G>A (p.Asp349Asn) rs368454909 0.00001
NM_000203.5(IDUA):c.1087C>T (p.Arg363Cys) rs750496798 0.00001
NM_000203.5(IDUA):c.1148G>A (p.Arg383His) rs754949360 0.00001
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys) rs794727896 0.00001
NM_000203.5(IDUA):c.1163C>G (p.Thr388Arg) rs794727896 0.00001
NM_000203.5(IDUA):c.1190-2A>T rs994902207 0.00001
NM_000203.5(IDUA):c.1422_1423dup (p.Tyr475fs) rs761793564 0.00001
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg) rs772416503 0.00001
NM_000203.5(IDUA):c.1524+1G>A rs1553917483 0.00001
NM_000203.5(IDUA):c.1728-1G>C rs1249951282 0.00001
NM_000203.5(IDUA):c.1828+1G>C rs919151683 0.00001
NM_000203.5(IDUA):c.1883G>C (p.Arg628Pro) rs200448421 0.00001
NM_000203.5(IDUA):c.191_192del (p.Tyr64fs) rs794727240 0.00001
NM_000203.5(IDUA):c.227A>G (p.Tyr76Cys) rs780165694 0.00001
NM_000203.5(IDUA):c.265C>T (p.Arg89Trp) rs754966840 0.00001
NM_000203.5(IDUA):c.299+1G>T rs398123259 0.00001
NM_000203.5(IDUA):c.535A>G (p.Thr179Ala) rs766030255 0.00001
NM_000203.5(IDUA):c.539G>C (p.Trp180Ser) rs1044231895 0.00001
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) rs794726878 0.00001
NM_000203.5(IDUA):c.589+1G>A rs1293215555 0.00001
NM_000203.5(IDUA):c.623G>A (p.Gly208Asp) rs1430681871 0.00001
NM_000203.5(IDUA):c.719A>G (p.His240Arg) rs1297784711 0.00001
NM_000207.3(INS):c.1A>G (p.Met1Val) rs757124361 0.00001
NM_000208.4(INSR):c.3059G>A (p.Arg1020Gln) rs121913148 0.00001
NM_000209.4(PDX1):c.651del (p.Gly218fs) rs776610329 0.00001
NM_000209.4(PDX1):c.773A>G (p.Glu258Gly) rs193922360 0.00001
NM_000262.3(NAGA):c.443G>A (p.Trp148Ter) rs781137026 0.00001
NM_000263.4(NAGLU):c.1021+1G>T rs1447465424 0.00001
NM_000263.4(NAGLU):c.1200del (p.Gln400fs) rs1485628563 0.00001
NM_000263.4(NAGLU):c.1208T>C (p.Ile403Thr) rs796052122 0.00001
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg) rs768814260 0.00001
NM_000263.4(NAGLU):c.1390C>T (p.Arg464Ter) rs138387856 0.00001
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp) rs104894596 0.00001
NM_000263.4(NAGLU):c.1447dup (p.Tyr483fs) rs778021009 0.00001
NM_000263.4(NAGLU):c.154G>A (p.Val52Met) rs794726880 0.00001
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter) rs1244655820 0.00001
NM_000263.4(NAGLU):c.1946G>A (p.Trp649Ter) rs527236038 0.00001
NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu) rs527236037 0.00001
NM_000263.4(NAGLU):c.1991C>T (p.Ala664Val) rs746006696 0.00001
NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter) rs752527478 0.00001
NM_000263.4(NAGLU):c.274T>C (p.Tyr92His) rs1555621454 0.00001
NM_000263.4(NAGLU):c.383+1G>T rs727504028 0.00001
NM_000263.4(NAGLU):c.384-1G>A rs764134891 0.00001
NM_000263.4(NAGLU):c.418T>A (p.Tyr140Asn) rs2092909557 0.00001
NM_000263.4(NAGLU):c.556C>T (p.Gln186Ter) rs1270564492 0.00001
NM_000263.4(NAGLU):c.694C>T (p.Gln232Ter) rs886043792 0.00001
NM_000263.4(NAGLU):c.701G>A (p.Arg234His) rs886042073 0.00001
NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg) rs1358994052 0.00001
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595 0.00001
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln) rs187131358 0.00001
NM_000289.6(PFKM):c.1191+1G>A rs746348793 0.00001
NM_000289.6(PFKM):c.1294C>T (p.Arg432Ter) rs41291965 0.00001
NM_000289.6(PFKM):c.1413-2A>G rs1430517061 0.00001
NM_000289.6(PFKM):c.1500+1G>A rs770066278 0.00001
NM_000289.6(PFKM):c.936+1G>A rs1949974650 0.00001
NM_000291.4(PGK1):c.758T>C (p.Ile253Thr) rs137852534 0.00001
NM_000292.3(PHKA2):c.557G>A (p.Arg186His) rs137852290 0.00001
NM_000293.3(PHKB):c.306-2A>G rs797044442 0.00001
NM_000294.3(PHKG2):c.469G>A (p.Glu157Lys) rs752961445 0.00001
NM_000294.3(PHKG2):c.643G>A (p.Asp215Asn) rs767427889 0.00001
NM_000294.3(PHKG2):c.835C>T (p.Arg279Cys) rs994896967 0.00001
NM_000298.6(PKLR):c.1082A>C (p.Asn361Thr) rs1358047518 0.00001
NM_000298.6(PKLR):c.1178A>G (p.Asn393Ser) rs776594413 0.00001
NM_000298.6(PKLR):c.1277G>A (p.Arg426Gln) rs768002493 0.00001
NM_000308.4(CTSA):c.1123C>T (p.Arg375Ter) rs1189568492 0.00001
NM_000308.4(CTSA):c.146A>G (p.Gln49Arg) rs137854541 0.00001
NM_000308.4(CTSA):c.869+1G>C rs1987148852 0.00001
NM_000340.2(SLC2A2):c.1250C>T (p.Pro417Leu) rs121909744 0.00001
NM_000340.2(SLC2A2):c.775+1G>A rs756874949 0.00001
NM_000343.4(SLC5A1):c.1007G>A (p.Arg336His) rs774651252 0.00001
NM_000352.6(ABCC8):c.1177-1G>A rs1167993548 0.00001
NM_000352.6(ABCC8):c.1332G>T (p.Gln444His) rs760062120 0.00001
NM_000352.6(ABCC8):c.1508T>C (p.Leu503Pro) rs1554933168 0.00001
NM_000352.6(ABCC8):c.1532T>C (p.Leu511Pro) rs797045206 0.00001
NM_000352.6(ABCC8):c.1576C>T (p.Arg526Cys) rs751279984 0.00001
NM_000352.6(ABCC8):c.1671+1G>C rs1057516509 0.00001
NM_000352.6(ABCC8):c.1732_1746dup (p.Ala578_Leu582dup) rs757650373 0.00001
NM_000352.6(ABCC8):c.2116+2T>C rs786204676 0.00001
NM_000352.6(ABCC8):c.2202del (p.Ala736fs) rs1554924035 0.00001
NM_000352.6(ABCC8):c.220C>T (p.Arg74Trp) rs201682634 0.00001
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln) rs72559734 0.00001
NM_000352.6(ABCC8):c.2556+1G>A rs749271190 0.00001
NM_000352.6(ABCC8):c.2695-1G>C rs1057517420 0.00001
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter) rs541269678 0.00001
NM_000352.6(ABCC8):c.3126_3127insAGGAACTG (p.Leu1043fs) rs766033867 0.00001
NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg) rs761749884 0.00001
NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp) rs797045209 0.00001
NM_000352.6(ABCC8):c.3641G>A (p.Arg1214Gln) rs367850779 0.00001
NM_000352.6(ABCC8):c.3784G>A (p.Ala1262Thr) rs1266053680 0.00001
NM_000352.6(ABCC8):c.382G>A (p.Glu128Lys) rs781617345 0.00001
NM_000352.6(ABCC8):c.4147G>A (p.Gly1383Arg) rs748233295 0.00001
NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter) rs193922402 0.00001
NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn) rs72559716 0.00001
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg) rs72559715 0.00001
NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp) rs28936371 0.00001
NM_000352.6(ABCC8):c.4478G>A (p.Arg1493Gln) rs746480424 0.00001
NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro) rs72559713 0.00001
NM_000352.6(ABCC8):c.502C>T (p.Arg168Cys) rs756823374 0.00001
NM_000352.6(ABCC8):c.693G>A (p.Trp231Ter) rs1957198348 0.00001
NM_000352.6(ABCC8):c.742C>T (p.Arg248Ter) rs72559730 0.00001
NM_000352.6(ABCC8):c.76T>A (p.Cys26Ser) rs1462559571 0.00001
NM_000352.6(ABCC8):c.928G>A (p.Asp310Asn) rs769569410 0.00001
NM_000352.6(ABCC8):c.946G>A (p.Gly316Arg) rs1201126343 0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461 0.00001
NM_000404.4(GLB1):c.1038G>T (p.Lys346Asn) rs749980306 0.00001
NM_000404.4(GLB1):c.145C>T (p.Arg49Cys) rs72555358 0.00001
NM_000404.4(GLB1):c.1479+1G>A rs1022476871 0.00001
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala) rs72555368 0.00001
NM_000404.4(GLB1):c.161G>A (p.Ser54Asn) rs143423935 0.00001
NM_000404.4(GLB1):c.1646C>T (p.Pro549Leu) rs776327443 0.00001
NM_000404.4(GLB1):c.1746G>A (p.Trp582Ter) rs778375259 0.00001
NM_000404.4(GLB1):c.245+1G>A rs778423653 0.00001
NM_000404.4(GLB1):c.245C>T (p.Thr82Met) rs72555393 0.00001
NM_000404.4(GLB1):c.380G>T (p.Cys127Phe) rs1699791081 0.00001
NM_000404.4(GLB1):c.397-1G>A rs398123353 0.00001
NM_000404.4(GLB1):c.443G>A (p.Arg148His) rs745864233 0.00001
NM_000404.4(GLB1):c.481T>G (p.Trp161Gly) rs398123355 0.00001
NM_000404.4(GLB1):c.517C>G (p.Leu173Val) rs1303774639 0.00001
NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp) rs376663785 0.00001
NM_000404.4(GLB1):c.809A>G (p.Tyr270Cys) rs371546950 0.00001
NM_000404.4(GLB1):c.902C>T (p.Ala301Val) rs750531880 0.00001
NM_000434.4(NEU1):c.238C>A (p.Pro80Thr) rs1762543434 0.00001
NM_000434.4(NEU1):c.692T>A (p.Leu231His) rs762400331 0.00001
NM_000507.4(FBP1):c.490G>A (p.Gly164Ser) rs121918188 0.00001
NM_000507.4(FBP1):c.778G>A (p.Gly260Arg) rs780803192 0.00001
NM_000512.5(GALNS):c.1162G>A (p.Asp388Asn) rs373739301 0.00001
NM_000512.5(GALNS):c.1219A>C (p.Asn407His) rs749578474 0.00001
NM_000512.5(GALNS):c.121A>T (p.Met41Leu) rs1283377907 0.00001
NM_000512.5(GALNS):c.139G>A (p.Gly47Arg) rs199638097 0.00001
NM_000512.5(GALNS):c.1445C>T (p.Ala482Val) rs1909820489 0.00001
NM_000512.5(GALNS):c.1480A>G (p.Met494Val) rs1401175486 0.00001
NM_000512.5(GALNS):c.1483-15A>G rs1461992033 0.00001
NM_000512.5(GALNS):c.1483-1G>A rs1223848239 0.00001
NM_000512.5(GALNS):c.1483-1G>C rs1223848239 0.00001
NM_000512.5(GALNS):c.1483A>T (p.Asn495Tyr) rs1404888504 0.00001
NM_000512.5(GALNS):c.1498G>A (p.Gly500Ser) rs1303492021 0.00001
NM_000512.5(GALNS):c.1558T>C (p.Trp520Arg) rs398123434 0.00001
NM_000512.5(GALNS):c.184A>T (p.Met62Leu) rs1367462378 0.00001
NM_000512.5(GALNS):c.1A>G (p.Met1Val) rs771531650 0.00001
NM_000512.5(GALNS):c.235T>C (p.Cys79Arg) rs1478665723 0.00001
NM_000512.5(GALNS):c.280C>T (p.Arg94Cys) rs118204441 0.00001
NM_000512.5(GALNS):c.281G>A (p.Arg94His) rs727503946 0.00001
NM_000512.5(GALNS):c.338T>C (p.Ile113Thr) rs979373729 0.00001
NM_000512.5(GALNS):c.451C>A (p.Pro151Thr) rs781439830 0.00001
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu) rs559063128 0.00001
NM_000512.5(GALNS):c.463G>A (p.Gly155Arg) rs398123438 0.00001
NM_000512.5(GALNS):c.466T>C (p.Phe156Leu) rs1308500116 0.00001
NM_000512.5(GALNS):c.502G>A (p.Gly168Arg) rs775732598 0.00001
NM_000512.5(GALNS):c.578A>G (p.Glu193Gly) rs1427663367 0.00001
NM_000512.5(GALNS):c.602G>A (p.Gly201Glu) rs772413313 0.00001
NM_000512.5(GALNS):c.638C>T (p.Ala213Val) rs770239604 0.00001
NM_000512.5(GALNS):c.647T>C (p.Phe216Ser) rs747805226 0.00001
NM_000512.5(GALNS):c.697G>A (p.Asp233Asn) rs753051547 0.00001
NM_000512.5(GALNS):c.706C>T (p.His236Tyr) rs1228027865 0.00001
NM_000512.5(GALNS):c.719A>G (p.Tyr240Cys) rs752039956 0.00001
NM_000512.5(GALNS):c.752G>A (p.Arg251Gln) rs1199639828 0.00001
NM_000512.5(GALNS):c.757C>T (p.Arg253Trp) rs775300515 0.00001
NM_000512.5(GALNS):c.868G>A (p.Gly290Ser) rs975409254 0.00001
NM_000512.5(GALNS):c.898+1G>C rs761850746 0.00001
NM_000512.5(GALNS):c.910G>A (p.Gly304Ser) rs764070268 0.00001
NM_000525.4(KCNJ11):c.100C>T (p.Arg34Cys) rs954727530 0.00001
NM_000525.4(KCNJ11):c.101G>A (p.Arg34His) rs141145502 0.00001
NM_000525.4(KCNJ11):c.406C>T (p.Arg136Cys) rs766891274 0.00001
NM_000525.4(KCNJ11):c.560C>T (p.Ala187Val) rs1371185696 0.00001
NM_000525.4(KCNJ11):c.79C>T (p.Arg27Cys) rs752507753 0.00001
NM_000525.4(KCNJ11):c.881C>T (p.Thr294Met) rs780957825 0.00001
NM_000525.4(KCNJ11):c.902G>A (p.Arg301His) rs74339576 0.00001
NM_000528.4(MAN2B1):c.1117A>T (p.Lys373Ter) rs778554304 0.00001
NM_000528.4(MAN2B1):c.1259G>T (p.Gly420Val) rs772853856 0.00001
NM_000528.4(MAN2B1):c.1420-1G>A rs752229880 0.00001
NM_000528.4(MAN2B1):c.1528-1G>A rs561991886 0.00001
NM_000528.4(MAN2B1):c.1583dup (p.Pro529fs) rs748872992 0.00001
NM_000528.4(MAN2B1):c.1645-1G>A rs938576591 0.00001
NM_000528.4(MAN2B1):c.1645-2A>T rs891030696 0.00001
NM_000528.4(MAN2B1):c.1687G>T (p.Glu563Ter) rs1057516927 0.00001
NM_000528.4(MAN2B1):c.222C>A (p.Asp74Glu) rs746702002 0.00001
NM_000528.4(MAN2B1):c.2267+1G>A rs1022927322 0.00001
NM_000528.4(MAN2B1):c.2436+2T>C rs398123457 0.00001
NM_000528.4(MAN2B1):c.2820+1G>A rs768734132 0.00001
NM_000528.4(MAN2B1):c.2920dup (p.Thr974fs) rs774791244 0.00001
NM_000528.4(MAN2B1):c.422del (p.Asp141fs) rs778399351 0.00001
NM_000528.4(MAN2B1):c.598C>A (p.His200Asn) rs772108001 0.00001
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp) rs763257568 0.00001
NM_000528.4(MAN2B1):c.788C>T (p.Pro263Leu) rs746808159 0.00001
NM_000528.4(MAN2B1):c.856G>A (p.Glu286Lys) rs772562587 0.00001
NM_000545.8(HNF1A):c.1243G>A (p.Gly415Arg) rs368683806 0.00001
NM_000545.8(HNF1A):c.1501G>A (p.Ala501Thr) rs371807951 0.00001
NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu) rs749673816 0.00001
NM_000545.8(HNF1A):c.1663C>T (p.Leu555Phe) rs193922587 0.00001
NM_000545.8(HNF1A):c.50T>A (p.Leu17His) rs1480672278 0.00001
NM_000545.8(HNF1A):c.599G>A (p.Arg200Gln) rs893256143 0.00001
NM_000545.8(HNF1A):c.608G>A (p.Arg203His) rs587780357 0.00001
NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu) rs1286294151 0.00001
NM_000545.8(HNF1A):c.812G>A (p.Arg271Gln) rs779184183 0.00001
NM_000642.3(AGL):c.100C>T (p.Arg34Ter) rs781580050 0.00001
NM_000642.3(AGL):c.1078C>T (p.His360Tyr) rs763554006 0.00001
NM_000642.3(AGL):c.1082+1G>C rs751112302 0.00001
NM_000642.3(AGL):c.1735+1G>T rs199922945 0.00001
NM_000642.3(AGL):c.1880A>G (p.Asp627Gly) rs764236940 0.00001
NM_000642.3(AGL):c.2023C>T (p.Arg675Trp) rs765749454 0.00001
NM_000642.3(AGL):c.22C>T (p.Arg8Ter) rs1057516870 0.00001
NM_000642.3(AGL):c.22del (p.Arg8fs) rs1215043175 0.00001
NM_000642.3(AGL):c.2309-1G>A rs786204481 0.00001
NM_000642.3(AGL):c.2309-2A>G rs1253347170 0.00001
NM_000642.3(AGL):c.2723T>G (p.Leu908Arg) rs772347559 0.00001
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter) rs531425980 0.00001
NM_000642.3(AGL):c.3259+1G>A rs1394576194 0.00001
NM_000642.3(AGL):c.3350dup (p.Tyr1117Ter) rs1432024176 0.00001
NM_000642.3(AGL):c.3554del (p.Thr1185fs) rs764318570 0.00001
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter) rs113994131 0.00001
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys) rs775685508 0.00001
NM_000642.3(AGL):c.664+3A>G rs370792293 0.00001
NM_000642.3(AGL):c.685C>T (p.Gln229Ter) rs971749992 0.00001
NM_000642.3(AGL):c.907C>T (p.Gln303Ter) rs145362161 0.00001
NM_000642.3(AGL):c.94C>T (p.Gln32Ter) rs786204489 0.00001
NM_000891.3(KCNJ2):c.637C>T (p.Arg213Ter) rs764523123 0.00001
NM_001008216.2(GALE):c.280G>A (p.Val94Met) rs121908047 0.00001
NM_001008216.2(GALE):c.284G>A (p.Gly95Asp) rs1243531358 0.00001
NM_001008216.2(GALE):c.449C>T (p.Thr150Met) rs765353795 0.00001
NM_001008216.2(GALE):c.715C>T (p.Arg239Trp) rs137853860 0.00001
NM_001008216.2(GALE):c.796-1G>T rs779828095 0.00001
NM_001040616.3(LINS1):c.1178T>G (p.Leu393Ter) rs149644940 0.00001
NM_001040616.3(LINS1):c.1432G>T (p.Glu478Ter) rs1163046936 0.00001
NM_001040716.2(PC):c.1368+1G>T rs755640269 0.00001
NM_001040716.2(PC):c.2194C>T (p.Arg732Ter) rs112948607 0.00001
NM_001040716.2(PC):c.633+2T>C rs763433647 0.00001
NM_001040716.2(PC):c.806G>A (p.Arg269Gln) rs1349343839 0.00001
NM_001164277.2(SLC37A4):c.1124+2dup rs1459811938 0.00001
NM_001164277.2(SLC37A4):c.1A>G (p.Met1Val) rs786204740 0.00001
NM_001164277.2(SLC37A4):c.287G>A (p.Trp96Ter) rs121908976 0.00001
NM_001164277.2(SLC37A4):c.381+2T>G rs782645078 0.00001
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg) rs193302883 0.00001
NM_001164277.2(SLC37A4):c.458C>T (p.Pro153Leu) rs193302890 0.00001
NM_001164277.2(SLC37A4):c.652C>T (p.Gln218Ter) rs551439289 0.00001
NM_001164277.2(SLC37A4):c.81T>A (p.Asn27Lys) rs193302889 0.00001
NM_001164277.2(SLC37A4):c.833T>A (p.Ile278Asn) rs193302900 0.00001
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His) rs121908978 0.00001
NM_001164277.2(SLC37A4):c.898C>T (p.Arg300Cys) rs193302880 0.00001
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg) rs28934602 0.00001
NM_001352514.2(HLCS):c.1621-2A>G rs750728042 0.00001
NM_001352514.2(HLCS):c.1850T>C (p.Leu617Ser) rs1261821166 0.00001
NM_001352514.2(HLCS):c.2527C>T (p.Gln843Ter) rs1466111134 0.00001
NM_001352514.2(HLCS):c.2567C>T (p.Pro856Leu) rs1260631800 0.00001
NM_001352514.2(HLCS):c.2585A>C (p.Asp862Ala) rs752737867 0.00001
NM_001352514.2(HLCS):c.712_713del (p.Arg238fs) rs1284747916 0.00001
NM_001358263.1(HK1):c.19C>T (p.Arg7Ter) rs779250530 0.00001
NM_001360016.2(G6PD):c.1004C>A (p.Ala335Asp) rs1557229854 0.00001
NM_001360016.2(G6PD):c.1347G>C (p.Gln449His) rs1557229572 0.00001
NM_001360016.2(G6PD):c.1366G>A (p.Asp456Asn) rs782317415 0.00001
NM_001360016.2(G6PD):c.242G>A (p.Arg81His) rs782308266 0.00001
NM_001360016.2(G6PD):c.551C>T (p.Ser184Phe) rs782315572 0.00001
NM_001360016.2(G6PD):c.660C>G (p.Ile220Met) rs782771682 0.00001
NM_001360016.2(G6PD):c.973G>A (p.Asp325Asn) rs781906610 0.00001
NM_001370658.1(BTD):c.-17+2T>C rs745648160 0.00001
NM_001370658.1(BTD):c.1154T>C (p.Leu385Pro) rs397514406 0.00001
NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser) rs397514410 0.00001
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg) rs397514412 0.00001
NM_001370658.1(BTD):c.1246G>A (p.Glu416Lys) rs749460715 0.00001
NM_001370658.1(BTD):c.124G>A (p.Val42Met) rs397507170 0.00001
NM_001370658.1(BTD):c.1274G>T (p.Gly425Val) rs397514402 0.00001
NM_001370658.1(BTD):c.1324del (p.Arg442fs) rs397514420 0.00001
NM_001370658.1(BTD):c.1543C>G (p.Leu515Val) rs771537277 0.00001
NM_001370658.1(BTD):c.1553G>A (p.Arg518His) rs397514429 0.00001
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys) rs104893687 0.00001
NM_001370658.1(BTD):c.176G>A (p.Arg59His) rs397514343 0.00001
NM_001370658.1(BTD):c.197T>G (p.Met66Arg) rs587783002 0.00001
NM_001370658.1(BTD):c.249+1G>T rs373249212 0.00001
NM_001370658.1(BTD):c.250-15del rs587783008 0.00001
NM_001370658.1(BTD):c.265G>C (p.Val89Leu) rs372416959 0.00001
NM_001370658.1(BTD):c.281G>T (p.Gly94Val) rs375712490 0.00001
NM_001370658.1(BTD):c.320C>T (p.Pro107Leu) rs575787457 0.00001
NM_001370658.1(BTD):c.360G>A (p.Trp120Ter) rs1306944669 0.00001
NM_001370658.1(BTD):c.385T>C (p.Phe129Leu) rs397514359 0.00001
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys) rs397514363 0.00001
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232 0.00001
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys) rs372844636 0.00001
NM_001370658.1(BTD):c.572G>A (p.Arg191His) rs112195009 0.00001
NM_001370658.1(BTD):c.577del (p.His193fs) rs780874850 0.00001
NM_001370658.1(BTD):c.649G>A (p.Ala217Thr) rs397514381 0.00001
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr) rs397507175 0.00001
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr) rs397514382 0.00001
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser) rs397514383 0.00001
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr) rs397514384 0.00001
NM_001370658.1(BTD):c.754T>G (p.Trp252Gly) rs397514387 0.00001
NM_001370658.1(BTD):c.941_942del (p.Ile314fs) rs749162799 0.00001
NM_001543.5(NDST1):c.1831G>A (p.Gly611Ser) rs606231459 0.00001
NM_001807.6(CEL):c.703C>T (p.Arg235Ter) rs778611627 0.00001
NM_001931.5(DLAT):c.1728C>A (p.Phe576Leu) rs119103240 0.00001
NM_002103.5(GYS1):c.1170-2A>G rs1219432457 0.00001
NM_002299.4(LCT):c.4087G>A (p.Gly1363Ser) rs386833833 0.00001
NM_002637.4(PHKA1):c.2527-1G>T rs1556257317 0.00001
NM_002863.5(PYGL):c.2024C>T (p.Ser675Leu) rs113993986 0.00001
NM_002863.5(PYGL):c.697G>A (p.Gly233Ser) rs749922511 0.00001
NM_003041.4(SLC5A2):c.294_295insTT (p.Glu99fs) rs770214617 0.00001
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln) rs773138218 0.00001
NM_003384.3(VRK1):c.889+1G>T rs1482696609 0.00001
NM_003477.3(PDHX):c.1292T>C (p.Val431Ala) rs756023441 0.00001
NM_003477.3(PDHX):c.1336C>T (p.Arg446Ter) rs1135402725 0.00001
NM_004130.4(GYG1):c.481+2T>C rs1173594490 0.00001
NM_004130.4(GYG1):c.970C>T (p.Arg324Ter) rs727502869 0.00001
NM_004830.4(MED23):c.3353C>G (p.Ser1118Ter) rs769471341 0.00001
NM_004830.4(MED23):c.3982C>T (p.Arg1328Cys) rs766478634 0.00001
NM_005327.7(HADH):c.280G>C (p.Glu94Gln) rs1274785101 0.00001
NM_005609.4(PYGM):c.107T>G (p.Leu36Arg) rs1394188143 0.00001
NM_005609.4(PYGM):c.1092+1G>A rs749560316 0.00001
NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys) rs757681143 0.00001
NM_005609.4(PYGM):c.1193C>T (p.Pro398Leu) rs773204705 0.00001
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu) rs756251887 0.00001
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp) rs377225525 0.00001
NM_005609.4(PYGM):c.1709G>A (p.Arg570Gln) rs143550601 0.00001
NM_005609.4(PYGM):c.1723A>G (p.Lys575Glu) rs1315020035 0.00001
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) rs119103255 0.00001
NM_005609.4(PYGM):c.1827G>A (p.Lys609=) rs119103259 0.00001
NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys) rs119103253 0.00001
NM_005609.4(PYGM):c.2111C>T (p.Ala704Val) rs1483102315 0.00001
NM_005609.4(PYGM):c.549G>A (p.Trp183Ter) rs1223885403 0.00001
NM_005609.4(PYGM):c.580C>T (p.Arg194Trp) rs376581557 0.00001
NM_005609.4(PYGM):c.661-601G>A rs1474863903 0.00001
NM_005609.4(PYGM):c.78_79del (p.Glu27fs) rs755117847 0.00001
NM_005670.4(EPM2A):c.302-1G>C rs369463720 0.00001
NM_005908.4(MANBA):c.1622G>A (p.Trp541Ter) rs771865668 0.00001
NM_005908.4(MANBA):c.2352_2356del (p.Thr785fs) rs1341763493 0.00001
NM_005908.4(MANBA):c.960+1G>A rs890870104 0.00001
NM_006279.5(ST3GAL3):c.1046C>T (p.Thr349Met) rs1201878175 0.00001
NM_006516.4(SLC2A1):c.286A>G (p.Met96Val) rs753161833 0.00001
NM_006618.5(KDM5B):c.2251C>T (p.Arg751Ter) rs1287727763 0.00001
NM_006618.5(KDM5B):c.895C>T (p.Arg299Ter) rs1558498928 0.00001
NM_006765.4(TUSC3):c.220C>T (p.Arg74Ter) rs1251881194 0.00001
NM_006859.4(LIAS):c.100A>T (p.Lys34Ter) rs764858363 0.00001
NM_006859.4(LIAS):c.954+1G>A rs965952835 0.00001
NM_012203.2(GRHPR):c.102G>A (p.Trp34Ter) rs180177304 0.00001
NM_012203.2(GRHPR):c.214+1G>T rs1244822375 0.00001
NM_012203.2(GRHPR):c.337G>A (p.Glu113Lys) rs180177307 0.00001
NM_012203.2(GRHPR):c.404+5G>A rs757796926 0.00001
NM_012203.2(GRHPR):c.454dup (p.Thr152fs) rs771019056 0.00001
NM_012203.2(GRHPR):c.478G>A (p.Gly160Arg) rs180177312 0.00001
NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp) rs180177314 0.00001
NM_012203.2(GRHPR):c.735-2del rs1257080057 0.00001
NM_012203.2(GRHPR):c.865+1G>T rs771990662 0.00001
NM_012203.2(GRHPR):c.904C>T (p.Arg302Cys) rs180177322 0.00001
NM_012203.2(GRHPR):c.958G>T (p.Glu320Ter) rs1331106064 0.00001
NM_012434.5(SLC17A5):c.1007_1008del (p.Leu336fs) rs386833987 0.00001
NM_012434.5(SLC17A5):c.1016G>A (p.Trp339Ter) rs1057516910 0.00001
NM_012434.5(SLC17A5):c.1109_1111+2del rs1767805645 0.00001
NM_012434.5(SLC17A5):c.1111+1G>A rs777862172 0.00001
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His) rs769235753 0.00001
NM_012434.5(SLC17A5):c.1259+1G>A rs146095590 0.00001
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs) rs1234745577 0.00001
NM_012434.5(SLC17A5):c.500T>C (p.Leu167Pro) rs587779410 0.00001
NM_012434.5(SLC17A5):c.667dup (p.Tyr223fs) rs1472109408 0.00001
NM_012434.5(SLC17A5):c.95-1G>C rs386833995 0.00001
NM_014168.4(METTL5):c.362A>G (p.Asp121Gly) rs760916142 0.00001
NM_016042.4(EXOSC3):c.572G>A (p.Gly191Asp) rs797045567 0.00001
NM_016219.5(MAN1B1):c.1942C>T (p.Gln648Ter) rs1164484724 0.00001
NM_017721.5(CC2D1A):c.511_513+1del rs777057767 0.00001
NM_018255.4(ELP2):c.617A>G (p.His206Arg) rs773432002 0.00001
NM_020374.4(C12orf4):c.1360C>T (p.Arg454Ter) rs749969789 0.00001
NM_021957.4(GYS2):c.1081del (p.Thr361fs) rs771205749 0.00001
NM_021957.4(GYS2):c.1229+1G>A rs764539267 0.00001
NM_021957.4(GYS2):c.1230-1G>A rs766733439 0.00001
NM_024989.4(PGAP1):c.2204T>A (p.Leu735Ter) rs1361547443 0.00001
NM_024989.4(PGAP1):c.2286+1G>A rs1406991265 0.00001
NM_031229.4(RBCK1):c.1160A>G (p.Asn387Ser) rs566912235 0.00001
NM_031229.4(RBCK1):c.697_703dup (p.Glu235fs) rs730880330 0.00001
NM_138413.4(HOGA1):c.123del (p.Pro41_Val42insTer) rs1419840309 0.00001
NM_138413.4(HOGA1):c.221T>G (p.Val74Gly) rs796052084 0.00001
NM_138413.4(HOGA1):c.341-1G>A rs1554874130 0.00001
NM_138413.4(HOGA1):c.529G>T (p.Asp177Tyr) rs777601935 0.00001
NM_138413.4(HOGA1):c.533T>A (p.Leu178Gln) rs796052090 0.00001
NM_138413.4(HOGA1):c.634A>G (p.Thr212Ala) rs779492256 0.00001
NM_138413.4(HOGA1):c.700+2T>G rs990830655 0.00001
NM_138413.4(HOGA1):c.818T>C (p.Ile273Thr) rs758795356 0.00001
NM_138413.4(HOGA1):c.834+1G>T rs749315029 0.00001
NM_138775.3(ALKBH8):c.1421_1429del (p.His474_Ala477delinsPro) rs1565312540 0.00001
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys) rs121908285 0.00001
NM_152419.3(HGSNAT):c.1129-2A>T rs749568919 0.00001
NM_152419.3(HGSNAT):c.118+1G>A rs1324229618 0.00001
NM_152419.3(HGSNAT):c.1445T>A (p.Met482Lys) rs121908284 0.00001
NM_152419.3(HGSNAT):c.1464+1G>A rs398124545 0.00001
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu) rs121908282 0.00001
NM_152419.3(HGSNAT):c.852-2A>C rs755710040 0.00001
NM_153747.2(PIGC):c.635T>C (p.Leu212Pro) rs1553259602 0.00001
NM_175914.5(HNF4A):c.1198C>T (p.Arg400Ter) rs1413742263 0.00001
NM_175914.5(HNF4A):c.322G>A (p.Val108Ile) rs377476335 0.00001
NM_175914.5(HNF4A):c.625G>A (p.Gly209Arg) rs1469544671 0.00001
NM_175914.5(HNF4A):c.733C>T (p.Arg245Cys) rs1290868034 0.00001
NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys) rs193922479 0.00001
NM_175914.5(HNF4A):c.926G>A (p.Arg309His) rs369429452 0.00001
NM_198586.3(NHLRC1):c.204C>A (p.Cys68Ter) rs769144119 0.00001
G6PD A-
G6PD NARA rs587776730
GRCh37/hg19 3q26.1(chr3:164696665-164751252)
GRCh37/hg19 3q26.1(chr3:164714302-164716481)
HNF4A deletion
NC_000001.10:g.(?_100335936)_(100336445_?)del
NC_000001.10:g.(?_24186268)_(24186413_?)dup
NC_000001.10:g.100330092T>A rs794729208
NC_000001.11:g.(?_99921514)_(99921671_?)del
NC_000001.11:g.(?_99921524)_(99921661_?)del
NC_000003.11:g.(?_81538849)_(81539615_81548260)del
NC_000003.11:g.(?_81640178)_(81643184_?)dup
NC_000003.12:g.(?_81490387)_(81705633_?)del
NC_000003.12:g.(?_81490397)_(81490473_?)del
NC_000004.11:g.(103635719_103644027)_(103645125_103647745)del
NC_000004.11:g.(?_103635575)_(103635738_?)dup
NC_000005.9:g.(78135250_78181406)_(78181651_78251117)dup
NC_000005.9:g.(?_78135159)_(78135269_?)dup
NC_000005.9:g.(?_78181397)_(78181660_?)dup
NC_000006.11:g.(?_74303101)_(74310165_74320122)del
NC_000006.11:g.(?_74310064)_(74310174_?)dup
NC_000006.12:g.(?_73610390)_(73615457_?)dup
NC_000008.10:g.(43024386_43025727)_(43027530_43028855)del
NC_000008.10:g.(?_43028846)_(43028896_?)dup
NC_000009.11:g.(?_104184081)_(104184196_?)del
NC_000009.12:g.101435743_101435818del rs2118377686
NC_000009.12:g.94620330_94620492del rs1563984164
NC_000011.10:g.(?_64746639)_(64747378_?)del
NC_000011.10:g.(?_64758236)_(64758714_?)del
NC_000011.9:g.(34953032_34969052)_(34999730_35006116)del
NC_000011.9:g.(34988362_34991685)_(34991834_34999670)del
NC_000011.9:g.(?_64513860)_(64514831_64517847)del
NC_000012.11:g.(?_65133151)_(65146547_?)dup
NC_000016.10:g.47614206_47644831del
NC_000016.10:g.88779266_88827672del
NC_000016.9:g.(87925561_87935517)_(87970113_?)del
NC_000016.9:g.(?_47531290)_(47549532_?)dup
NC_000016.9:g.(?_47614186)_(47644851_?)dup
NC_000016.9:g.(?_47621559)_(47630462_?)dup
NC_000016.9:g.(?_47644717)_(47644851_?)dup
NC_000016.9:g.(?_87935498)_(87938530_?)dup
NC_000016.9:g.(?_88884395)_(88884552_?)del
NC_000016.9:g.(?_88893090)_(88904193_?)del
NC_000017.10:g.(73754681_73758784)_(73761281_?)del
NC_000017.10:g.(?_40690337)_(40690793_?)dup
NC_000017.10:g.(?_41061310)_(41061445_?)dup
NC_000017.11:g.(?_80107537)_(80113386_?)del
NC_000017.11:g.42910915_42911427del rs2056090806
NC_000017.11:g.80114186_80114187ins[80114172_80114186;NC_000020.11:g.2823027_2826302;AAA]
NC_000019.9:g.(?_12760707)_(12763294_?)dup
NC_000019.9:g.(?_12760717)_(12761046_?)dup
NC_000021.8:g.(?_38126547)_(38139606_?)del
NC_000023.10:g.(?_119589192)_(119589445_?)dup
NM_000027.4(AGA):c.102_108del (p.Thr33_Trp34insTer) rs386833417
NM_000027.4(AGA):c.10A>T (p.Lys4Ter)
NM_000027.4(AGA):c.121G>T (p.Glu41Ter) rs1560952256
NM_000027.4(AGA):c.127+1G>A rs1057516565
NM_000027.4(AGA):c.127_128insATGCGG (p.Ala42_Ala43insAspAla) rs386833418
NM_000027.4(AGA):c.128-2A>C
NM_000027.4(AGA):c.179G>A (p.Gly60Asp) rs121964907
NM_000027.4(AGA):c.192T>A (p.Cys64Ter) rs386833419
NM_000027.4(AGA):c.192del (p.Cys64fs) rs1553994830
NM_000027.4(AGA):c.198_201del (p.Arg66fs)
NM_000027.4(AGA):c.200_201del (p.Glu67fs) rs386833420
NM_000027.4(AGA):c.200_201dup (p.Gln68fs)
NM_000027.4(AGA):c.281+1G>T rs1553994812
NM_000027.4(AGA):c.282-2A>G
NM_000027.4(AGA):c.28del (p.Leu10fs) rs1057517062
NM_000027.4(AGA):c.299G>A (p.Gly100Glu) rs386833421
NM_000027.4(AGA):c.302C>T (p.Ala101Val) rs121964908
NM_000027.4(AGA):c.325A>T (p.Lys109Ter)
NM_000027.4(AGA):c.329del (p.Asn110fs) rs764357395
NM_000027.4(AGA):c.333del (p.Ile112fs) rs1057517223
NM_000027.4(AGA):c.336del (p.Ile112fs) rs386833422
NM_000027.4(AGA):c.346C>T (p.Arg116Trp) rs386833423
NM_000027.4(AGA):c.365C>A (p.Thr122Lys) rs771563230
NM_000027.4(AGA):c.367_371del (p.Thr123fs) rs1736928101
NM_000027.4(AGA):c.369_373del (p.His124fs) rs386833424
NM_000027.4(AGA):c.373_376del (p.Thr125fs) rs386833425
NM_000027.4(AGA):c.375_376del (p.Leu126fs) rs386833425
NM_000027.4(AGA):c.375_378del (p.Thr125_Leu126insTer)
NM_000027.4(AGA):c.376del (p.Leu126fs) rs1553994755
NM_000027.4(AGA):c.39del (p.Leu15fs)
NM_000027.4(AGA):c.3G>A (p.Met1Ile)
NM_000027.4(AGA):c.3G>C (p.Met1Ile) rs937973897
NM_000027.4(AGA):c.44T>G (p.Leu15Arg) rs386833429
NM_000027.4(AGA):c.490C>T (p.Gln164Ter) rs1057517329
NM_000027.4(AGA):c.507+1G>C
NM_000027.4(AGA):c.508-2A>C
NM_000027.4(AGA):c.537C>A (p.Cys179Ter) rs748171793
NM_000027.4(AGA):c.552del (p.Pro185fs)
NM_000027.4(AGA):c.595G>T (p.Glu199Ter) rs370078048
NM_000027.4(AGA):c.595_596del (p.Glu199fs)
NM_000027.4(AGA):c.623-2A>G rs1483909684
NM_000027.4(AGA):c.698+1G>A rs1057517175
NM_000027.4(AGA):c.698+1G>T rs1057517175
NM_000027.4(AGA):c.698+2T>C rs2111013260
NM_000027.4(AGA):c.70del (p.Ser24fs) rs1057517239
NM_000027.4(AGA):c.735dup (p.Tyr246fs)
NM_000027.4(AGA):c.754G>C (p.Gly252Arg) rs386833432
NM_000027.4(AGA):c.755G>A (p.Gly252Glu) rs386833433
NM_000027.4(AGA):c.788del (p.Ile262_Leu263insTer) rs386833435
NM_000027.4(AGA):c.807-1G>A
NM_000027.4(AGA):c.904G>C (p.Gly302Arg)
NM_000027.4(AGA):c.916T>C (p.Cys306Arg) rs121964906
NM_000027.4(AGA):c.940+1G>A rs386833437
NM_000027.4(AGA):c.941-1G>T
NM_000027.4(AGA):c.941-2A>G rs1553993921
NM_000027.4(AGA):c.993T>G (p.Tyr331Ter) rs1201784742
NM_000030.3(AGXT):c.1007T>A (p.Val336Asp) rs180177155
NM_000030.3(AGXT):c.1014C>A (p.Tyr338Ter)
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp) rs180177156
NM_000030.3(AGXT):c.1072-1G>A
NM_000030.3(AGXT):c.1076T>C (p.Leu359Pro) rs180177160
NM_000030.3(AGXT):c.1093_1094del (p.Gly365fs)
NM_000030.3(AGXT):c.121G>C (p.Gly41Arg)
NM_000030.3(AGXT):c.126del (p.Leu43fs) rs180177171
NM_000030.3(AGXT):c.126dup (p.Leu43fs) rs180177171
NM_000030.3(AGXT):c.130C>T (p.Gln44Ter) rs180177172
NM_000030.3(AGXT):c.139G>C (p.Gly47Arg)
NM_000030.3(AGXT):c.140G>A (p.Gly47Glu)
NM_000030.3(AGXT):c.165+1G>T
NM_000030.3(AGXT):c.166-11_166-8delinsTGCATGCAAGAT
NM_000030.3(AGXT):c.188G>A (p.Gly63Asp)
NM_000030.3(AGXT):c.190A>T (p.Ile64Phe)
NM_000030.3(AGXT):c.191T>A (p.Ile64Asn)
NM_000030.3(AGXT):c.198C>A (p.Tyr66Ter) rs121908521
NM_000030.3(AGXT):c.221_227dup (p.Val77fs) rs180177183
NM_000030.3(AGXT):c.238_239insTTGCCAA (p.Gly80fs)
NM_000030.3(AGXT):c.239_251del (p.Gly80fs)
NM_000030.3(AGXT):c.23_24delinsAT (p.Val8Asp)
NM_000030.3(AGXT):c.242C>G (p.Ser81Trp)
NM_000030.3(AGXT):c.244G>A (p.Gly82Arg)
NM_000030.3(AGXT):c.252T>A (p.Cys84Ter) rs2058978388
NM_000030.3(AGXT):c.259del (p.Glu87fs)
NM_000030.3(AGXT):c.268dup (p.Leu90fs)
NM_000030.3(AGXT):c.279del (p.Leu94fs)
NM_000030.3(AGXT):c.283G>T (p.Glu95Ter)
NM_000030.3(AGXT):c.292G>C (p.Asp98His)
NM_000030.3(AGXT):c.299_307dup (p.Val102_Gly103insValLeuVal) rs180177193
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro) rs180177195
NM_000030.3(AGXT):c.305T>A (p.Val102Asp) rs1304689724
NM_000030.3(AGXT):c.31_32insT (p.Pro11fs) rs2106427288
NM_000030.3(AGXT):c.322T>C (p.Trp108Arg) rs180177197
NM_000030.3(AGXT):c.326G>A (p.Gly109Glu)
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) rs34116584
NM_000030.3(AGXT):c.335C>A (p.Ala112Asp) rs796052061
NM_000030.3(AGXT):c.33del (p.Lys12fs) rs180177201
NM_000030.3(AGXT):c.34_35dup (p.Ala13fs)
NM_000030.3(AGXT):c.352C>A (p.Arg118Ser)
NM_000030.3(AGXT):c.358G>A (p.Gly120Arg) rs747043550
NM_000030.3(AGXT):c.358G>T (p.Gly120Ter) rs747043550
NM_000030.3(AGXT):c.359-2A>G
NM_000030.3(AGXT):c.374_381del (p.Pro125fs) rs2058986184
NM_000030.3(AGXT):c.386_395del (p.Asp129fs)
NM_000030.3(AGXT):c.389del (p.Pro130fs)
NM_000030.3(AGXT):c.412G>T (p.Glu138Ter) rs2058986411
NM_000030.3(AGXT):c.423+1G>A rs1553648493
NM_000030.3(AGXT):c.423+2T>C
NM_000030.3(AGXT):c.423G>C (p.Glu141Asp) rs180177217
NM_000030.3(AGXT):c.433del (p.Gln145fs)
NM_000030.3(AGXT):c.439A>T (p.Lys147Ter) rs1193344118
NM_000030.3(AGXT):c.469G>C (p.Glu157Gln)
NM_000030.3(AGXT):c.473C>T (p.Ser158Leu) rs180177225
NM_000030.3(AGXT):c.482G>A (p.Gly161Asp)
NM_000030.3(AGXT):c.490C>T (p.Gln164Ter)
NM_000030.3(AGXT):c.517T>C (p.Cys173Arg) rs2106428650
NM_000030.3(AGXT):c.524+2T>A rs1553648568
NM_000030.3(AGXT):c.525-2A>T
NM_000030.3(AGXT):c.528C>A (p.Tyr176Ter)
NM_000030.3(AGXT):c.533G>A (p.Cys178Tyr) rs180177235
NM_000030.3(AGXT):c.534C>G (p.Cys178Trp) rs1400552764
NM_000030.3(AGXT):c.536delinsACTGGAGG (p.Leu179fs)
NM_000030.3(AGXT):c.547G>A (p.Asp183Asn) rs180177236
NM_000030.3(AGXT):c.560C>A (p.Ser187Tyr)
NM_000030.3(AGXT):c.569_570insA (p.Thr191fs)
NM_000030.3(AGXT):c.577del (p.Leu193fs) rs180177241
NM_000030.3(AGXT):c.579_580del (p.Tyr194fs)
NM_000030.3(AGXT):c.584T>G (p.Met195Arg) rs180177244
NM_000030.3(AGXT):c.595+1G>A
NM_000030.3(AGXT):c.597_601del (p.Ile200fs)
NM_000030.3(AGXT):c.602A>T (p.Asp201Val)
NM_000030.3(AGXT):c.627G>T (p.Lys209Asn)
NM_000030.3(AGXT):c.632T>G (p.Leu211Arg)
NM_000030.3(AGXT):c.638C>A (p.Ala213Asp)
NM_000030.3(AGXT):c.646G>A (p.Gly216Arg) rs180177252
NM_000030.3(AGXT):c.653C>A (p.Ser218Ter) rs180177253
NM_000030.3(AGXT):c.662_664del (p.Ser221del) rs796052071
NM_000030.3(AGXT):c.667A>C (p.Ser223Arg)
NM_000030.3(AGXT):c.673_676del (p.Lys225fs) rs1057516896
NM_000030.3(AGXT):c.681-1G>A
NM_000030.3(AGXT):c.681-1G>T rs112673831
NM_000030.3(AGXT):c.683AGA[1] (p.Lys229del) rs1553648979
NM_000030.3(AGXT):c.706A>T (p.Lys236Ter)
NM_000030.3(AGXT):c.737G>A (p.Trp246Ter) rs180177259
NM_000030.3(AGXT):c.751_752delinsAA (p.Trp251Lys) rs796052072
NM_000030.3(AGXT):c.757T>C (p.Cys253Arg) rs180177264
NM_000030.3(AGXT):c.776+2T>G rs1553649007
NM_000030.3(AGXT):c.779A>G (p.Tyr260Cys)
NM_000030.3(AGXT):c.781C>G (p.His261Asp) rs778567956
NM_000030.3(AGXT):c.79G>T (p.Gly27Trp)
NM_000030.3(AGXT):c.807dup (p.Tyr270fs)
NM_000030.3(AGXT):c.826_827delinsGA (p.Leu276Glu)
NM_000030.3(AGXT):c.838del (p.Ala280fs) rs2106430924
NM_000030.3(AGXT):c.847-1G>C rs180177285
NM_000030.3(AGXT):c.847-2_847-1del rs1553649375
NM_000030.3(AGXT):c.848del
NM_000030.3(AGXT):c.891T>G (p.Tyr297Ter) rs180177292
NM_000030.3(AGXT):c.934A>T (p.Lys312Ter)
NM_000030.3(AGXT):c.943-1G>T rs180177298
NM_000030.3(AGXT):c.973del (p.Ala325fs) rs2059037657
NM_000030.3(AGXT):c.983_988del (p.Ala328_Tyr330delinsAsp) rs180177302
NM_000030.3(AGXT):c.996G>A (p.Trp332Ter) rs796052064
NM_000035.4(ALDOB):c.1007_1008delinsT (p.Cys336fs) rs1831052831
NM_000035.4(ALDOB):c.1044_1049delinsACACT (p.Ser349fs) rs2118332973
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter) rs118204428
NM_000035.4(ALDOB):c.112+1G>A rs2118366070
NM_000035.4(ALDOB):c.112+1del rs1057516534
NM_000035.4(ALDOB):c.113-1G>A rs748663340
NM_000035.4(ALDOB):c.113-1G>C rs748663340
NM_000035.4(ALDOB):c.113-1_115del rs786204598
NM_000035.4(ALDOB):c.113-2A>G
NM_000035.4(ALDOB):c.146del (p.Val49fs) rs2118362762
NM_000035.4(ALDOB):c.157G>T (p.Glu53Ter)
NM_000035.4(ALDOB):c.170G>C (p.Arg57Pro) rs370761101
NM_000035.4(ALDOB):c.172C>T (p.Gln58Ter) rs1831192129
NM_000035.4(ALDOB):c.1A>G (p.Met1Val)
NM_000035.4(ALDOB):c.1A>T (p.Met1Leu)
NM_000035.4(ALDOB):c.214C>T (p.Gln72Ter) rs1831191030
NM_000035.4(ALDOB):c.227G>T (p.Gly76Val) rs764779161
NM_000035.4(ALDOB):c.227del (p.Gly76fs)
NM_000035.4(ALDOB):c.250del (p.Leu84fs) rs1831190354
NM_000035.4(ALDOB):c.264C>A (p.Asp88Glu) rs200585150
NM_000035.4(ALDOB):c.287del (p.Asn96fs) rs1554702890
NM_000035.4(ALDOB):c.2T>G (p.Met1Arg)
NM_000035.4(ALDOB):c.302del (p.Lys101fs) rs974582114
NM_000035.4(ALDOB):c.306_317dup (p.Val104_Ile107dup) rs1376128325
NM_000035.4(ALDOB):c.324+1G>A rs764826805
NM_000035.4(ALDOB):c.324+2T>A rs1057516379
NM_000035.4(ALDOB):c.324G>A (p.Lys108=) rs750026492
NM_000035.4(ALDOB):c.325-1G>A rs1402966846
NM_000035.4(ALDOB):c.325-1G>C rs1402966846
NM_000035.4(ALDOB):c.331C>T (p.Gln111Ter) rs528914024
NM_000035.4(ALDOB):c.345_372del (p.Leu116fs) rs2118358456
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs) rs387906225
NM_000035.4(ALDOB):c.379+1G>A rs138121153
NM_000035.4(ALDOB):c.380-1G>A rs1554702666
NM_000035.4(ALDOB):c.380-2A>G rs1300461861
NM_000035.4(ALDOB):c.420del (p.Asp141fs) rs1057517421
NM_000035.4(ALDOB):c.439A>T (p.Lys147Ter) rs1831150965
NM_000035.4(ALDOB):c.444G>A (p.Trp148Ter) rs1057516902
NM_000035.4(ALDOB):c.457_458del (p.Arg153fs)
NM_000035.4(ALDOB):c.469C>T (p.Gln157Ter) rs1831149748
NM_000035.4(ALDOB):c.474T>A (p.Cys158Ter) rs1179941004
NM_000035.4(ALDOB):c.522C>G (p.Tyr174Ter) rs752902486
NM_000035.4(ALDOB):c.532T>C (p.Cys178Arg) rs2118354587
NM_000035.4(ALDOB):c.540+1G>C rs2118354551
NM_000035.4(ALDOB):c.541-153_800-175del
NM_000035.4(ALDOB):c.541-277_651del
NM_000035.4(ALDOB):c.541-277_651delinsATGGGTT
NM_000035.4(ALDOB):c.541-2A>G
NM_000035.4(ALDOB):c.546del (p.Leu183fs) rs1057517091
NM_000035.4(ALDOB):c.554C>G (p.Pro185Arg) rs2118350958
NM_000035.4(ALDOB):c.606C>A (p.Cys202Ter)
NM_000035.4(ALDOB):c.612T>G (p.Tyr204Ter) rs370793608
NM_000035.4(ALDOB):c.61C>T (p.Gln21Ter) rs2118366288
NM_000035.4(ALDOB):c.624+1G>A
NM_000035.4(ALDOB):c.624+1G>C
NM_000035.4(ALDOB):c.625-1G>A rs1564077542
NM_000035.4(ALDOB):c.625-2A>G rs786204503
NM_000035.4(ALDOB):c.62del (p.Gln21fs) rs2118366284
NM_000035.4(ALDOB):c.673del (p.Glu225fs) rs758133069
NM_000035.4(ALDOB):c.677G>A (p.Gly226Asp) rs2118346537
NM_000035.4(ALDOB):c.683_688dup (p.Leu229_Lys230insMetLeu) rs1478306331
NM_000035.4(ALDOB):c.686T>C (p.Leu229Pro) rs1554702433
NM_000035.4(ALDOB):c.689del (p.Lys230fs) rs2118346335
NM_000035.4(ALDOB):c.712dup (p.His238fs) rs1554702425
NM_000035.4(ALDOB):c.720C>A (p.Cys240Ter) rs118204426
NM_000035.4(ALDOB):c.724A>T (p.Lys242Ter)
NM_000035.4(ALDOB):c.742C>T (p.Gln248Ter)
NM_000035.4(ALDOB):c.761dup (p.Thr255fs) rs2118345550
NM_000035.4(ALDOB):c.799+1G>A
NM_000035.4(ALDOB):c.799+2T>A rs2118345193
NM_000035.4(ALDOB):c.799+2T>C
NM_000035.4(ALDOB):c.800-2A>G
NM_000035.4(ALDOB):c.812del (p.Leu271fs) rs1554702353
NM_000035.4(ALDOB):c.839C>A (p.Ala280Asp) rs1831103567
NM_000035.4(ALDOB):c.841_842del (p.Thr281fs) rs2118342944
NM_000035.4(ALDOB):c.851T>C (p.Leu284Pro) rs2118342839
NM_000035.4(ALDOB):c.865del (p.Leu289fs) rs864309533
NM_000035.4(ALDOB):c.887G>A (p.Trp296Ter) rs1249398093
NM_000035.4(ALDOB):c.888G>A (p.Trp296Ter) rs1057517133
NM_000035.4(ALDOB):c.932T>C (p.Leu311Pro) rs2118342191
NM_000035.4(ALDOB):c.940dup (p.Trp314fs) rs1554702328
NM_000035.4(ALDOB):c.941G>A (p.Trp314Ter) rs1554702325
NM_000035.4(ALDOB):c.954_995del (p.Ala319_Ala332del) rs2118341777
NM_000035.4(ALDOB):c.964G>T (p.Glu322Ter) rs1172384674
NM_000035.4:c.-10_624del
NM_000035.4:c.1_624del
NM_000046.4(ARSB):c.313-7412_690+1601del
NM_000046.4:c.(312+1_313-1_690+1_691-1)del
NM_000046.5(ARSB):c.1001G>T (p.Ser334Ile) rs1554079311
NM_000046.5(ARSB):c.1048A>T (p.Ile350Phe) rs79970603
NM_000046.5(ARSB):c.1052C>T (p.Ser351Phe) rs756671977
NM_000046.5(ARSB):c.1060_1061del (p.Leu354fs)
NM_000046.5(ARSB):c.1079T>C (p.Leu360Pro) rs1554079284
NM_000046.5(ARSB):c.1088del (p.Gly363fs)
NM_000046.5(ARSB):c.108_120del (p.Ser37fs) rs1028653411
NM_000046.5(ARSB):c.1127T>A (p.Val376Glu) rs1554079268
NM_000046.5(ARSB):c.1130G>A (p.Trp377Ter) rs1554079265
NM_000046.5(ARSB):c.1140_1142+2del rs1747980506
NM_000046.5(ARSB):c.1142+2T>A rs781510986
NM_000046.5(ARSB):c.1142+581A>G
NM_000046.5(ARSB):c.1143-1G>A
NM_000046.5(ARSB):c.1143-8T>G rs431905496
NM_000046.5(ARSB):c.114del (p.Ala39fs) rs1554032252
NM_000046.5(ARSB):c.1161dup (p.Arg388fs) rs1554074135
NM_000046.5(ARSB):c.1168G>A (p.Glu390Lys) rs1554074132
NM_000046.5(ARSB):c.1197C>G (p.Phe399Leu) rs200793396
NM_000046.5(ARSB):c.1213+6T>C rs1554074118
NM_000046.5(ARSB):c.1214-1G>A
NM_000046.5(ARSB):c.1214-2A>G rs1554069808
NM_000046.5(ARSB):c.1214-2A>T rs1554069808
NM_000046.5(ARSB):c.123_139dup (p.Leu47fs) rs766772376
NM_000046.5(ARSB):c.1279del (p.Thr427fs) rs1554069791
NM_000046.5(ARSB):c.1286dup (p.His430fs) rs1554069786
NM_000046.5(ARSB):c.1289A>G (p.His430Arg) rs1171277553
NM_000046.5(ARSB):c.1299dup (p.Arg434Ter) rs1355071930
NM_000046.5(ARSB):c.1314G>A (p.Trp438Ter)
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met) rs1057520739
NM_000046.5(ARSB):c.1337-1G>C
NM_000046.5(ARSB):c.1381G>T (p.Glu461Ter) rs2112617391
NM_000046.5(ARSB):c.1391C>A (p.Ser464Ter) rs769996056
NM_000046.5(ARSB):c.1394C>G (p.Ser465Ter) rs1209412483
NM_000046.5(ARSB):c.1415T>C (p.Leu472Pro) rs1211360114
NM_000046.5(ARSB):c.1438dup (p.Asp480fs) rs1167459660
NM_000046.5(ARSB):c.1442C>T (p.Pro481Leu) rs906245021
NM_000046.5(ARSB):c.1451G>C (p.Arg484Thr)
NM_000046.5(ARSB):c.1458C>A (p.Asp486Glu)
NM_000046.5(ARSB):c.1475del (p.Pro492fs) rs1554069669
NM_000046.5(ARSB):c.1482del (p.Ile494fs) rs1554069668
NM_000046.5(ARSB):c.1493T>C (p.Leu498Pro) rs774358117
NM_000046.5(ARSB):c.149T>A (p.Leu50Ter) rs1554032222
NM_000046.5(ARSB):c.1507C>T (p.Gln503Ter) rs771113472
NM_000046.5(ARSB):c.1539C>G (p.Tyr513Ter) rs1251438062
NM_000046.5(ARSB):c.1558dup (p.Arg520fs)
NM_000046.5(ARSB):c.157G>A (p.Asp53Asn) rs1554032217
NM_000046.5(ARSB):c.158A>G (p.Asp53Gly) rs2112582627
NM_000046.5(ARSB):c.1601A>C (p.Ter534Ser) rs1554069655
NM_000046.5(ARSB):c.1601A>G (p.Ter534Trp) rs1554069655
NM_000046.5(ARSB):c.160G>A (p.Asp54Asn) rs1554032216
NM_000046.5(ARSB):c.161A>C (p.Asp54Ala) rs1378501017
NM_000046.5(ARSB):c.166G>A (p.Gly56Ser)
NM_000046.5(ARSB):c.166G>C (p.Gly56Arg)
NM_000046.5(ARSB):c.173del (p.Asn58fs) rs1180759765
NM_000046.5(ARSB):c.176A>T (p.Asp59Val) rs1179935748
NM_000046.5(ARSB):c.191del (p.Gly64fs)
NM_000046.5(ARSB):c.206C>T (p.Thr69Met) rs1554032175
NM_000046.5(ARSB):c.207_213dup (p.Leu72fs) rs1554032160
NM_000046.5(ARSB):c.219del (p.Asp73fs) rs1554032153
NM_000046.5(ARSB):c.223_232del (p.Leu75fs) rs1554032145
NM_000046.5(ARSB):c.237_243del (p.Val80fs) rs1554032134
NM_000046.5(ARSB):c.244C>G (p.Leu82Val)
NM_000046.5(ARSB):c.245T>C (p.Leu82Pro)
NM_000046.5(ARSB):c.245T>G (p.Leu82Arg) rs749465732
NM_000046.5(ARSB):c.247_248del (p.Asp83fs) rs1554032131
NM_000046.5(ARSB):c.253T>C (p.Tyr85His) rs1554032129
NM_000046.5(ARSB):c.253TAC[1] (p.Tyr86del) rs969231209
NM_000046.5(ARSB):c.263dup (p.Pro89fs) rs1554032118
NM_000046.5(ARSB):c.281C>A (p.Ser94Ter) rs1554032099
NM_000046.5(ARSB):c.283C>T (p.Arg95Trp) rs1201268402
NM_000046.5(ARSB):c.284G>T (p.Arg95Leu) rs118203942
NM_000046.5(ARSB):c.289C>T (p.Gln97Ter) rs1554032094
NM_000046.5(ARSB):c.290A>G (p.Gln97Arg) rs886039914
NM_000046.5(ARSB):c.293T>A (p.Leu98Gln) rs1554032090
NM_000046.5(ARSB):c.293T>G (p.Leu98Arg) rs1554032090
NM_000046.5(ARSB):c.300_312+18del rs2112580593
NM_000046.5(ARSB):c.304C>A (p.Arg102Ser)
NM_000046.5(ARSB):c.312+2T>G
NM_000046.5(ARSB):c.323G>A (p.Gly108Asp)
NM_000046.5(ARSB):c.323G>T (p.Gly108Val) rs768802200
NM_000046.5(ARSB):c.345G>A (p.Trp115Ter) rs2112530498
NM_000046.5(ARSB):c.350G>A (p.Cys117Tyr)
NM_000046.5(ARSB):c.375dup (p.Glu126Ter) rs1554088081
NM_000046.5(ARSB):c.395T>C (p.Leu132Pro) rs1554088079
NM_000046.5(ARSB):c.409G>A (p.Gly137Ser) rs2112530008
NM_000046.5(ARSB):c.438G>A (p.Trp146Ter) rs757061042
NM_000046.5(ARSB):c.441C>G (p.His147Gln) rs1752333074
NM_000046.5(ARSB):c.478C>G (p.Arg160Gly)
NM_000046.5(ARSB):c.479G>A (p.Arg160Gln) rs1196325597
NM_000046.5(ARSB):c.499+2T>A
NM_000046.5(ARSB):c.509T>G (p.Leu170Arg) rs1484763838
NM_000046.5(ARSB):c.511G>A (p.Gly171Ser) rs1554087445
NM_000046.5(ARSB):c.532C>G (p.His178Asp) rs1554087441
NM_000046.5(ARSB):c.533A>T (p.His178Leu) rs1554087439
NM_000046.5(ARSB):c.534T>G (p.His178Gln)
NM_000046.5(ARSB):c.574T>C (p.Cys192Arg) rs1554087423
NM_000046.5(ARSB):c.630_636del (p.Met209_Tyr210insTer) rs1554087406
NM_000046.5(ARSB):c.659_660del (p.Ile220fs) rs1554087395
NM_000046.5(ARSB):c.659del (p.Ile220fs)
NM_000046.5(ARSB):c.690+2T>C
NM_000046.5(ARSB):c.690+2T>G
NM_000046.5(ARSB):c.694_695del (p.Leu232fs)
NM_000046.5(ARSB):c.750_754delinsCCTGAAG (p.Glu250fs) rs1554086417
NM_000046.5(ARSB):c.750_754delinsCCTGAAGTCAAG (p.Glu250fs) rs1554086417
NM_000046.5(ARSB):c.765T>A (p.Tyr255Ter) rs1554086414
NM_000046.5(ARSB):c.785dup (p.Asn262fs) rs749015246
NM_000046.5(ARSB):c.789del (p.Arg263fs)
NM_000046.5(ARSB):c.797A>G (p.Tyr266Cys)
NM_000046.5(ARSB):c.883_884dup (p.Ile296fs) rs1554086370
NM_000046.5(ARSB):c.887T>A (p.Ile296Asn) rs1554086368
NM_000046.5(ARSB):c.898+1G>A rs1751669303
NM_000046.5(ARSB):c.898+1G>T
NM_000046.5(ARSB):c.903C>G (p.Asn301Lys) rs147495977
NM_000046.5(ARSB):c.904G>A (p.Gly302Arg) rs779378413
NM_000046.5(ARSB):c.905G>A (p.Gly302Glu)
NM_000046.5(ARSB):c.908G>A (p.Gly303Glu) rs1408739927
NM_000046.5(ARSB):c.928A>G (p.Asn310Asp) rs1402584432
NM_000046.5(ARSB):c.936G>T (p.Trp312Cys) rs759384989
NM_000046.5(ARSB):c.943C>T (p.Arg315Ter) rs891298440
NM_000046.5(ARSB):c.944G>C (p.Arg315Pro) rs727503809
NM_000046.5(ARSB):c.960C>G (p.Ser320Arg) rs762614315
NM_000046.5(ARSB):c.962T>A (p.Leu321Gln)
NM_000046.5(ARSB):c.982G>A (p.Gly328Arg)
NM_000046.5(ARSB):c.982G>C (p.Gly328Arg) rs748454316
NM_000046.5(ARSB):c.995T>G (p.Val332Gly) rs1554079312
NM_000108.5(DLD):c.1016del (p.Val339fs)
NM_000108.5(DLD):c.1036A>T (p.Lys346Ter)
NM_000108.5(DLD):c.1047-1G>A
NM_000108.5(DLD):c.1058T>C (p.Ile353Thr) rs2116271469
NM_000108.5(DLD):c.105C>G (p.Tyr35Ter) rs747810875
NM_000108.5(DLD):c.105del (p.Thr34_Tyr35insTer) rs1554396895
NM_000108.5(DLD):c.1080_1086dup (p.Ala363fs)
NM_000108.5(DLD):c.1105G>T (p.Glu369Ter) rs2032293119
NM_000108.5(DLD):c.1109_1112dup (p.Ile371fs)
NM_000108.5(DLD):c.1119T>A (p.Cys373Ter) rs2032293586
NM_000108.5(DLD):c.112C>T (p.Gln38Ter) rs1057516698
NM_000108.5(DLD):c.118+1G>T rs1554396908
NM_000108.5(DLD):c.1185dup (p.His396fs)
NM_000108.5(DLD):c.1187_1188del (p.His396fs)
NM_000108.5(DLD):c.119-1G>A rs2116206966
NM_000108.5(DLD):c.119-1G>T
NM_000108.5(DLD):c.1214C>A (p.Ser405Ter)
NM_000108.5(DLD):c.1214C>G (p.Ser405Ter)
NM_000108.5(DLD):c.1219G>T (p.Glu407Ter)
NM_000108.5(DLD):c.1233dup (p.Glu412fs)
NM_000108.5(DLD):c.1236+1G>T rs1554400483
NM_000108.5(DLD):c.1318A>T (p.Lys440Ter)
NM_000108.5(DLD):c.1421del (p.Gly474fs) rs1554400699
NM_000108.5(DLD):c.1429_1432del (p.Cys477fs) rs1554400704
NM_000108.5(DLD):c.1436A>T (p.Asp479Val) rs397514649
NM_000108.5(DLD):c.1446_1447del (p.Arg482fs) rs1554400713
NM_000108.5(DLD):c.1463del (p.Pro488fs) rs1554400720
NM_000108.5(DLD):c.1483A>G (p.Arg495Gly) rs121964989
NM_000108.5(DLD):c.1520_1523del (p.Ile507fs) rs777884525
NM_000108.5(DLD):c.198+1G>A rs1554398193
NM_000108.5(DLD):c.198+1G>T
NM_000108.5(DLD):c.199-1G>A rs1554398264
NM_000108.5(DLD):c.19dup (p.Val7fs)
NM_000108.5(DLD):c.223dup (p.Thr75fs) rs1057517214
NM_000108.5(DLD):c.225_226del (p.Leu76fs)
NM_000108.5(DLD):c.268-1G>A
NM_000108.5(DLD):c.268-2A>G rs1554398461
NM_000108.5(DLD):c.325A>T (p.Arg109Ter) rs2031930307
NM_000108.5(DLD):c.337+1G>T
NM_000108.5(DLD):c.338-1G>A
NM_000108.5(DLD):c.338-2A>G
NM_000108.5(DLD):c.338-2_338-1delinsT rs1554398624
NM_000108.5(DLD):c.345del (p.Val116fs) rs1554398625
NM_000108.5(DLD):c.383delinsTA (p.Ser128fs)
NM_000108.5(DLD):c.39+1G>A rs111257462
NM_000108.5(DLD):c.40-2A>G
NM_000108.5(DLD):c.439-1G>C
NM_000108.5(DLD):c.439-2A>G
NM_000108.5(DLD):c.491_492insGTATAAGAGACAG (p.Thr165fs)
NM_000108.5(DLD):c.582+2T>C
NM_000108.5(DLD):c.583-1G>C rs2032004082
NM_000108.5(DLD):c.632_633del (p.Lys211fs)
NM_000108.5(DLD):c.633dup (p.Val212fs) rs1040811473
NM_000108.5(DLD):c.737del (p.Gly246fs)
NM_000108.5(DLD):c.748G>T (p.Gly250Ter) rs2032247686
NM_000108.5(DLD):c.801del (p.Lys267fs)
NM_000108.5(DLD):c.802C>T (p.Gln268Ter) rs2032249629
NM_000108.5(DLD):c.821dup (p.Leu274fs) rs751883130
NM_000108.5(DLD):c.829A>T (p.Lys277Ter)
NM_000108.5(DLD):c.82del (p.Ser28fs) rs764704217
NM_000108.5(DLD):c.82dup (p.Ser28fs)
NM_000108.5(DLD):c.856_857del (p.Asp286fs)
NM_000108.5(DLD):c.865dup (p.Ile289fs) rs1554400179
NM_000108.5(DLD):c.875+1G>T rs1328820332
NM_000108.5(DLD):c.898A>T (p.Lys300Ter)
NM_000108.5(DLD):c.904G>T (p.Glu302Ter) rs2032281944
NM_000108.5(DLD):c.936C>A (p.Cys312Ter) rs2032282970
NM_000108.5(DLD):c.943C>T (p.Arg315Ter)
NM_000116.5(TAFAZZIN):c.532T>A (p.Phe178Ile)
NM_000147.5(FUCA1):c.1000A>T (p.Asn334Tyr)
NM_000147.5(FUCA1):c.1261-1G>A
NM_000147.5(FUCA1):c.1289_1301del (p.Leu430fs)
NM_000147.5(FUCA1):c.151_160del (p.Ala51fs) rs1570692560
NM_000147.5(FUCA1):c.203C>T (p.Ser68Leu)
NM_000147.5(FUCA1):c.215G>A (p.Trp72Ter) rs1639662981
NM_000147.5(FUCA1):c.216G>A (p.Trp72Ter)
NM_000147.5(FUCA1):c.422G>T (p.Gly141Val) rs753232669
NM_000147.5(FUCA1):c.579T>A (p.Tyr193Ter)
NM_000147.5(FUCA1):c.662_662+8del rs766794815
NM_000147.5(FUCA1):c.691G>A (p.Gly231Arg) rs1639470403
NM_000147.5(FUCA1):c.768+1G>A rs1639468949
NM_000147.5(FUCA1):c.768+1G>T
NM_000147.5(FUCA1):c.769-2A>C
NM_000147.5(FUCA1):c.7del (p.Ala3fs) rs1639669672
NM_000147.5(FUCA1):c.952G>T (p.Glu318Ter) rs201499886
NM_000151.4(G6PC1):c.1007C>A (p.Ala336Glu) rs2056095097
NM_000151.4(G6PC1):c.1012G>T (p.Val338Phe) rs367727229
NM_000151.4(G6PC1):c.1051C>T (p.Gln351Ter) rs766448695
NM_000151.4(G6PC1):c.136del (p.Leu46fs) rs1057517227
NM_000151.4(G6PC1):c.14T>A (p.Met5Lys)
NM_000151.4(G6PC1):c.150_151del (p.Trp50fs) rs1057516674
NM_000151.4(G6PC1):c.15G>A (p.Met5Ile)
NM_000151.4(G6PC1):c.15G>C (p.Met5Ile)
NM_000151.4(G6PC1):c.15G>T (p.Met5Ile)
NM_000151.4(G6PC1):c.202G>A (p.Gly68Arg) rs1567702819
NM_000151.4(G6PC1):c.211del (p.Leu71fs)
NM_000151.4(G6PC1):c.230+1G>C rs863224023
NM_000151.4(G6PC1):c.239T>C (p.Phe80Ser)
NM_000151.4(G6PC1):c.241G>A (p.Gly81Arg) rs756632286
NM_000151.4(G6PC1):c.247C>A (p.Arg83Ser)
NM_000151.4(G6PC1):c.258G>A (p.Trp86Ter) rs142917638
NM_000151.4(G6PC1):c.278del (p.Tyr93fs)
NM_000151.4(G6PC1):c.305T>A (p.Ile102Lys)
NM_000151.4(G6PC1):c.362T>C (p.Met121Thr)
NM_000151.4(G6PC1):c.365G>T (p.Gly122Val) rs759982943
NM_000151.4(G6PC1):c.381C>A (p.Tyr127Ter) rs1555559741
NM_000151.4(G6PC1):c.446+1G>C rs1597989983
NM_000151.4(G6PC1):c.446+2T>C rs1597989985
NM_000151.4(G6PC1):c.447-1G>C
NM_000151.4(G6PC1):c.467G>T (p.Trp156Leu) rs1189630738
NM_000151.4(G6PC1):c.479G>A (p.Trp160Ter) rs2056081522
NM_000151.4(G6PC1):c.497T>C (p.Val166Ala) rs104894571
NM_000151.4(G6PC1):c.499dup (p.Cys167fs) rs1057516630
NM_000151.4(G6PC1):c.506C>G (p.Ser169Ter) rs2056081719
NM_000151.4(G6PC1):c.511del (p.Ile171fs) rs1597990895
NM_000151.4(G6PC1):c.516C>A (p.Tyr172Ter) rs1555559991
NM_000151.4(G6PC1):c.526C>T (p.His176Tyr) rs1597990906
NM_000151.4(G6PC1):c.52_67dup (p.Tyr23fs) rs1555558920
NM_000151.4(G6PC1):c.538C>T (p.Gln180Ter) rs1597990921
NM_000151.4(G6PC1):c.560C>G (p.Ser187Ter) rs1485038937
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser) rs80356482
NM_000151.4(G6PC1):c.563-3C>G rs1597991608
NM_000151.4(G6PC1):c.59A>G (p.Gln20Arg) rs2056021410
NM_000151.4(G6PC1):c.61del (p.Gln20_Val21insTer) rs2056021430
NM_000151.4(G6PC1):c.674T>C (p.Leu225Pro) rs1555560128
NM_000151.4(G6PC1):c.706T>A (p.Trp236Arg) rs2056092151
NM_000151.4(G6PC1):c.706T>G (p.Trp236Gly)
NM_000151.4(G6PC1):c.707G>A (p.Trp236Ter) rs1457925404
NM_000151.4(G6PC1):c.731G>A (p.Trp244Ter) rs1555560140
NM_000151.4(G6PC1):c.764C>A (p.Thr255Asn)
NM_000151.4(G6PC1):c.764C>T (p.Thr255Ile) rs2056092654
NM_000151.4(G6PC1):c.770C>A (p.Pro257His) rs1597991733
NM_000151.4(G6PC1):c.792C>G (p.Asn264Lys) rs1555560149
NM_000151.4(G6PC1):c.79C>T (p.Gln27Ter) rs1057516367
NM_000151.4(G6PC1):c.809G>A (p.Gly270Asp)
NM_000151.4(G6PC1):c.820G>A (p.Ala274Thr) rs764084156
NM_000151.4(G6PC1):c.858del (p.Lys287fs) rs1057516858
NM_000151.4(G6PC1):c.952_953insGT (p.Val318fs) rs1555560185
NM_000151.4(G6PC1):c.964T>C (p.Phe322Leu)
NM_000151.4(G6PC1):c.966C>A (p.Phe322Leu)
NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter) rs780226142
NM_000151.4(G6PC1):c.980_982del (p.Phe327del) rs80356486
NM_000152.5(GAA):c.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC
NM_000152.5(GAA):c.-32-1G>C rs1555598460
NM_000152.5(GAA):c.-32-2A>G rs1445232530
NM_000152.5(GAA):c.-32-3C>A rs1055945806
NM_000152.5(GAA):c.1001G>A (p.Gly334Asp) rs2039143109
NM_000152.5(GAA):c.1003G>A (p.Gly335Arg) rs202095215
NM_000152.5(GAA):c.1003G>T (p.Gly335Trp) rs202095215
NM_000152.5(GAA):c.1020C>G (p.Tyr340Ter)
NM_000152.5(GAA):c.1030_1031del (p.Gly344fs) rs1567829962
NM_000152.5(GAA):c.1051del (p.Val351fs) rs786204507
NM_000152.5(GAA):c.1062C>A (p.Tyr354Ter) rs1064796703
NM_000152.5(GAA):c.1075+1G>T
NM_000152.5(GAA):c.1075+2T>A rs2143853890
NM_000152.5(GAA):c.1075+2T>C
NM_000152.5(GAA):c.1076-1G>A rs1555600050
NM_000152.5(GAA):c.1076-2A>G rs1057516290
NM_000152.5(GAA):c.1082C>G (p.Pro361Arg) rs755253527
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg) rs1555600061
NM_000152.5(GAA):c.1099del (p.Trp367fs) rs1057516785
NM_000152.5(GAA):c.1103G>A (p.Gly368Asp) rs368244038
NM_000152.5(GAA):c.1106T>A (p.Leu369Gln)
NM_000152.5(GAA):c.1114C>T (p.His372Tyr) rs1555600070
NM_000152.5(GAA):c.1115A>T (p.His372Leu) rs1057516520
NM_000152.5(GAA):c.1117del (p.Leu373fs)
NM_000152.5(GAA):c.1123C>A (p.Arg375Ser)
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu) rs142752477
NM_000152.5(GAA):c.1128_1129delinsC (p.Trp376fs) rs786204646
NM_000152.5(GAA):c.1130del (p.Gly377fs) rs754134578
NM_000152.5(GAA):c.1143del (p.Ala382fs) rs757458607
NM_000152.5(GAA):c.1156C>T (p.Gln386Ter) rs786204517
NM_000152.5(GAA):c.1165del (p.Glu389fs) rs1555600111
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu) rs776008078
NM_000152.5(GAA):c.1192dup (p.Leu398fs) rs1057516546
NM_000152.5(GAA):c.1193del (p.Leu398fs) rs1057517286
NM_000152.5(GAA):c.1194+2T>C rs1057516215
NM_000152.5(GAA):c.1194+2T>G
NM_000152.5(GAA):c.1194+5G>A rs2039153749
NM_000152.5(GAA):c.1195-1G>A rs1555600166
NM_000152.5(GAA):c.1195-2A>C rs765360653
NM_000152.5(GAA):c.1195-2A>G rs765360653
NM_000152.5(GAA):c.1205G>A (p.Trp402Ter)
NM_000152.5(GAA):c.1214T>C (p.Leu405Pro) rs2143857207
NM_000152.5(GAA):c.1216G>A (p.Asp406Asn) rs1555600179
NM_000152.5(GAA):c.1220A>G (p.Tyr407Cys)
NM_000152.5(GAA):c.1223T>C (p.Met408Thr)
NM_000152.5(GAA):c.1243_1244del (p.Thr415fs)
NM_000152.5(GAA):c.1309C>A (p.Arg437Ser)
NM_000152.5(GAA):c.1317GAT[1] (p.Met440del) rs1555600235
NM_000152.5(GAA):c.1326+2T>C rs1434761678
NM_000152.5(GAA):c.133del (p.Ser45fs)
NM_000152.5(GAA):c.1369C>T (p.Pro457Ser)
NM_000152.5(GAA):c.1376A>T (p.Asp459Val) rs2143866303
NM_000152.5(GAA):c.1377dup (p.Glu460fs) rs2039192386
NM_000152.5(GAA):c.1396G>T (p.Val466Phe)
NM_000152.5(GAA):c.1400T>C (p.Phe467Ser)
NM_000152.5(GAA):c.1407del (p.Asn470fs)
NM_000152.5(GAA):c.1408_1410del (p.Asn470del) rs748893499
NM_000152.5(GAA):c.1432G>A (p.Gly478Arg) rs778068209
NM_000152.5(GAA):c.1437+1G>A rs1555600575
NM_000152.5(GAA):c.1437G>A (p.Lys479=) rs796051877
NM_000152.5(GAA):c.1438-1G>A
NM_000152.5(GAA):c.1438-1G>C rs147804176
NM_000152.5(GAA):c.1438-1G>T rs147804176
NM_000152.5(GAA):c.1438-2A>G rs1555600730
NM_000152.5(GAA):c.1445C>G (p.Pro482Arg) rs2039212985
NM_000152.5(GAA):c.1445C>T (p.Pro482Leu) rs2039212985
NM_000152.5(GAA):c.1456G>C (p.Ala486Pro)
NM_000152.5(GAA):c.1456G>T (p.Ala486Ser)
NM_000152.5(GAA):c.1463C>T (p.Pro488Leu) rs2143872219
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn) rs398123169
NM_000152.5(GAA):c.1466A>G (p.Asp489Gly)
NM_000152.5(GAA):c.1477C>T (p.Pro493Ser)
NM_000152.5(GAA):c.1494del (p.Trp498fs)
NM_000152.5(GAA):c.1496G>A (p.Trp499Ter) rs766680292
NM_000152.5(GAA):c.1525C>T (p.Gln509Ter)
NM_000152.5(GAA):c.1538A>G (p.Asp513Gly) rs1598581682
NM_000152.5(GAA):c.1547G>A (p.Trp516Ter) rs2039217093
NM_000152.5(GAA):c.1551+1G>C rs770780848
NM_000152.5(GAA):c.1552-2A>G rs1555600846
NM_000152.5(GAA):c.1555A>G (p.Met519Val) rs1598581919
NM_000152.5(GAA):c.1564C>A (p.Pro522Thr) rs892129065
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala) rs892129065
NM_000152.5(GAA):c.1565C>T (p.Pro522Leu) rs2143874287
NM_000152.5(GAA):c.1567del (p.Ser523fs) rs1057517267
NM_000152.5(GAA):c.1575_1576del (p.Ile526fs)
NM_000152.5(GAA):c.1579_1580del (p.Arg527fs) rs1291214871
NM_000152.5(GAA):c.1583G>C (p.Gly528Ala) rs794727016
NM_000152.5(GAA):c.1583G>T (p.Gly528Val)
NM_000152.5(GAA):c.1602_1605delinsAGG (p.Asn535fs) rs2143874754
NM_000152.5(GAA):c.1633C>T (p.Pro545Ser) rs2143875175
NM_000152.5(GAA):c.1636+1G>A
NM_000152.5(GAA):c.1646G>A (p.Gly549Glu)
NM_000152.5(GAA):c.1650dup (p.Thr551fs) rs766398206
NM_000152.5(GAA):c.1654C>T (p.Leu552Phe)
NM_000152.5(GAA):c.1663G>C (p.Ala555Pro)
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe) rs747150965
NM_000152.5(GAA):c.1670T>G (p.Ile557Ser) rs1408164312
NM_000152.5(GAA):c.1673G>A (p.Cys558Tyr)
NM_000152.5(GAA):c.1687C>T (p.Gln563Ter) rs1057516426
NM_000152.5(GAA):c.1692del (p.Leu565fs) rs1555601234
NM_000152.5(GAA):c.1697C>T (p.Ser566Phe)
NM_000152.5(GAA):c.169C>T (p.Gln57Ter) rs1057516251
NM_000152.5(GAA):c.1709A>G (p.Asn570Ser)
NM_000152.5(GAA):c.1714C>T (p.His572Tyr)
NM_000152.5(GAA):c.1716C>G (p.His572Gln) rs772962666
NM_000152.5(GAA):c.1721T>C (p.Leu574Pro)
NM_000152.5(GAA):c.1748C>T (p.Ser583Phe) rs2143883845
NM_000152.5(GAA):c.1754+1_1754+7del rs2039250790
NM_000152.5(GAA):c.1780C>T (p.Arg594Cys) rs1428112902
NM_000152.5(GAA):c.1781G>A (p.Arg594His) rs775450536
NM_000152.5(GAA):c.1781G>C (p.Arg594Pro) rs775450536
NM_000152.5(GAA):c.1798C>G (p.Arg600Gly) rs764670084
NM_000152.5(GAA):c.1798del (p.Arg600fs)
NM_000152.5(GAA):c.1799G>T (p.Arg600Leu)
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp) rs374470794
NM_000152.5(GAA):c.1804A>G (p.Thr602Ala) rs781484283
NM_000152.5(GAA):c.1814del (p.Gly605fs)
NM_000152.5(GAA):c.1819G>T (p.Gly607Cys)
NM_000152.5(GAA):c.1824_1828dup (p.Ala610fs) rs1057516826
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp) rs1057517105
NM_000152.5(GAA):c.1836C>G (p.His612Gln) rs768397968
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys) rs369531647
NM_000152.5(GAA):c.1841C>T (p.Thr614Met) rs369531647
NM_000152.5(GAA):c.1844G>A (p.Gly615Glu) rs1243515778
NM_000152.5(GAA):c.1846G>T (p.Asp616Tyr)
NM_000152.5(GAA):c.1847dup (p.Asp616fs) rs1475559733
NM_000152.5(GAA):c.1848C>A (p.Asp616Glu)
NM_000152.5(GAA):c.1855A>G (p.Ser619Gly)
NM_000152.5(GAA):c.1857C>G (p.Ser619Arg) rs914396317
NM_000152.5(GAA):c.1861T>C (p.Trp621Arg) rs1327361418
NM_000152.5(GAA):c.1874_1882del (p.Ala625_Ser627del)
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe) rs1024137874
NM_000152.5(GAA):c.1888+1G>A rs776325453
NM_000152.5(GAA):c.1903A>G (p.Asn635Asp) rs2143891559
NM_000152.5(GAA):c.1905C>A (p.Asn635Lys) rs1414146587
NM_000152.5(GAA):c.1924G>T (p.Val642Phe)
NM_000152.5(GAA):c.1927G>T (p.Gly643Trp) rs28937909
NM_000152.5(GAA):c.1928G>C (p.Gly643Ala)
NM_000152.5(GAA):c.1930_1936dup (p.Val646fs) rs748829376
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn) rs368438393
NM_000152.5(GAA):c.1933G>C (p.Asp645His) rs368438393
NM_000152.5(GAA):c.1933G>T (p.Asp645Tyr) rs368438393
NM_000152.5(GAA):c.1940G>A (p.Cys647Tyr)
NM_000152.5(GAA):c.1940G>T (p.Cys647Phe) rs1265892085
NM_000152.5(GAA):c.1941C>A (p.Cys647Ter) rs776948121
NM_000152.5(GAA):c.1942G>T (p.Gly648Cys)
NM_000152.5(GAA):c.1943G>T (p.Gly648Val) rs1448515860
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs) rs1567835781
NM_000152.5(GAA):c.1952del (p.Gly651fs) rs1567835775
NM_000152.5(GAA):c.1961C>A (p.Ser654Ter) rs1057518106
NM_000152.5(GAA):c.1966del (p.Glu656fs)
NM_000152.5(GAA):c.1978C>G (p.Arg660Gly)
NM_000152.5(GAA):c.1978C>T (p.Arg660Cys) rs759518659
NM_000152.5(GAA):c.1A>G (p.Met1Val) rs786204467
NM_000152.5(GAA):c.1A>T (p.Met1Leu) rs786204467
NM_000152.5(GAA):c.2003A>G (p.Tyr668Cys) rs1555601633
NM_000152.5(GAA):c.2003_2013dup (p.Arg672fs)
NM_000152.5(GAA):c.2014C>G (p.Arg672Gly)
NM_000152.5(GAA):c.2021ACA[1] (p.Asn675del) rs786204621
NM_000152.5(GAA):c.2040+1del rs1555601662
NM_000152.5(GAA):c.2040+2T>G
NM_000152.5(GAA):c.2040G>A (p.Leu680=) rs2039280842
NM_000152.5(GAA):c.2041-1G>A rs760731229
NM_000152.5(GAA):c.2061del (p.Phe687fs) rs1064796706
NM_000152.5(GAA):c.2082del (p.Ala694_Met695insTer) rs2039287852
NM_000152.5(GAA):c.2088del (p.Lys697fs)
NM_000152.5(GAA):c.2095dup (p.Leu699fs) rs2143895928
NM_000152.5(GAA):c.2105G>C (p.Arg702Pro) rs398123172
NM_000152.5(GAA):c.2122del (p.His708fs)
NM_000152.5(GAA):c.2122dup (p.His708fs)
NM_000152.5(GAA):c.2130C>A (p.Tyr710Ter) rs2039289942
NM_000152.5(GAA):c.2131A>C (p.Thr711Pro) rs2143896492
NM_000152.5(GAA):c.2131A>G (p.Thr711Ala) rs2143896492
NM_000152.5(GAA):c.2131A>T (p.Thr711Ser)
NM_000152.5(GAA):c.2132_2133delinsGG (p.Thr711Arg) rs1555601773
NM_000152.5(GAA):c.2136_2137del (p.Phe713fs) rs1555601780
NM_000152.5(GAA):c.2140del (p.His714fs) rs786204549
NM_000152.5(GAA):c.2143C>T (p.Gln715Ter) rs1275298143
NM_000152.5(GAA):c.2161dup (p.Glu721fs) rs1555601802
NM_000152.5(GAA):c.2167G>A (p.Val723Met) rs767247397
NM_000152.5(GAA):c.2174G>T (p.Arg725Leu)
NM_000152.5(GAA):c.2185del (p.Leu729fs) rs1057516581
NM_000152.5(GAA):c.2189+2T>A
NM_000152.5(GAA):c.2210C>A (p.Thr737Asn) rs1381005435
NM_000152.5(GAA):c.2213G>A (p.Trp738Ter) rs1057516327
NM_000152.5(GAA):c.2214G>A (p.Trp738Ter) rs1057516328
NM_000152.5(GAA):c.2227C>T (p.Gln743Ter) rs1057516277
NM_000152.5(GAA):c.2228A>G (p.Gln743Arg) rs1567838823
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg) rs1479740763
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser) rs752921215
NM_000152.5(GAA):c.2237G>T (p.Trp746Leu) rs752921215
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter) rs1800312
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.2242G>T (p.Glu748Ter) rs1057516363
NM_000152.5(GAA):c.2242del (p.Glu748fs) rs777275355
NM_000152.5(GAA):c.2242dup (p.Glu748fs) rs777275355
NM_000152.5(GAA):c.2281delinsAT (p.Ala761fs) rs1057516924
NM_000152.5(GAA):c.2294G>A (p.Gly765Asp) rs1292367136
NM_000152.5(GAA):c.2296T>C (p.Tyr766His)
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser) rs144016984
NM_000152.5(GAA):c.2300del (p.Phe767fs) rs1555602692
NM_000152.5(GAA):c.2303C>G (p.Pro768Arg)
NM_000152.5(GAA):c.2303C>T (p.Pro768Leu)
NM_000152.5(GAA):c.2314T>C (p.Trp772Arg) rs1555602703
NM_000152.5(GAA):c.2319C>A (p.Tyr773Ter)
NM_000152.5(GAA):c.2331+1G>C
NM_000152.5(GAA):c.2331+4A>G
NM_000152.5(GAA):c.2332-1G>A
NM_000152.5(GAA):c.2332-1G>C rs1555602832
NM_000152.5(GAA):c.2332-2A>G rs112098197
NM_000152.5(GAA):c.2345_2346insA (p.Leu783fs)
NM_000152.5(GAA):c.2367dup (p.Pro790fs) rs1555602860
NM_000152.5(GAA):c.2383G>T (p.Glu795Ter) rs886043882
NM_000152.5(GAA):c.2395del (p.His799fs)
NM_000152.5(GAA):c.2411G>A (p.Trp804Ter) rs2143925134
NM_000152.5(GAA):c.241C>T (p.Gln81Ter) rs1555598687
NM_000152.5(GAA):c.2456G>C (p.Arg819Pro) rs374687883
NM_000152.5(GAA):c.2476del (p.Leu826fs)
NM_000152.5(GAA):c.2481+1G>A
NM_000152.5(GAA):c.2481+1G>T
NM_000152.5(GAA):c.2482-1G>T
NM_000152.5(GAA):c.2495_2496del (p.Thr832fs) rs1057516704
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs) rs886043343
NM_000152.5(GAA):c.2544del (p.Lys849fs) rs398123173
NM_000152.5(GAA):c.2545A>T (p.Lys849Ter) rs2039403673
NM_000152.5(GAA):c.2563G>C (p.Gly855Arg)
NM_000152.5(GAA):c.258del (p.Asn87fs) rs761317813
NM_000152.5(GAA):c.2617dup (p.Tyr873fs) rs1555603131
NM_000152.5(GAA):c.2619C>A (p.Tyr873Ter) rs1555603132
NM_000152.5(GAA):c.2644_2645insT (p.Asn882fs)
NM_000152.5(GAA):c.2646+2T>A rs786204561
NM_000152.5(GAA):c.2647-1_2648del rs1555603216
NM_000152.5(GAA):c.2647-2A>G
NM_000152.5(GAA):c.2655_2656delinsT (p.Ile885_Val886insTer)
NM_000152.5(GAA):c.265C>A (p.Arg89Ser)
NM_000152.5(GAA):c.266G>T (p.Arg89Leu)
NM_000152.5(GAA):c.2672del (p.Arg891fs)
NM_000152.5(GAA):c.2701del (p.Leu901fs)
NM_000152.5(GAA):c.2704C>T (p.Gln902Ter) rs1057516341
NM_000152.5(GAA):c.2723del (p.Gly908fs)
NM_000152.5(GAA):c.2740C>T (p.Gln914Ter) rs1555603264
NM_000152.5(GAA):c.276C>A (p.Cys92Ter) rs1232001857
NM_000152.5(GAA):c.2772del (p.Asn925fs)
NM_000152.5(GAA):c.2782T>C (p.Tyr928His) rs2143934702
NM_000152.5(GAA):c.2799+2C>A rs1555603318
NM_000152.5(GAA):c.2799+2C>G
NM_000152.5(GAA):c.2815_2816del (p.Val939fs) rs763359208
NM_000152.5(GAA):c.2853del (p.Trp951fs) rs1555603434
NM_000152.5(GAA):c.307T>C (p.Cys103Arg) rs398123174
NM_000152.5(GAA):c.308G>A (p.Cys103Tyr) rs2143827215
NM_000152.5(GAA):c.316C>G (p.Arg106Gly) rs915675670
NM_000152.5(GAA):c.323G>A (p.Cys108Tyr)
NM_000152.5(GAA):c.342del (p.Lys114fs) rs1555598796
NM_000152.5(GAA):c.343C>T (p.Gln115Ter) rs786204614
NM_000152.5(GAA):c.352C>T (p.Gln118Ter) rs1555598800
NM_000152.5(GAA):c.361C>T (p.Gln121Ter) rs750668627
NM_000152.5(GAA):c.371_381del (p.Gln124fs)
NM_000152.5(GAA):c.376del (p.Trp126fs) rs1555598824
NM_000152.5(GAA):c.389del (p.Pro130fs)
NM_000152.5(GAA):c.393del (p.Ser132fs) rs1057517381
NM_000152.5(GAA):c.396dup (p.Tyr133fs)
NM_000152.5(GAA):c.3G>A (p.Met1Ile) rs1187796945
NM_000152.5(GAA):c.437del (p.Met146fs) rs1555598869
NM_000152.5(GAA):c.448dup (p.Ala150fs) rs1555598880
NM_000152.5(GAA):c.461G>C (p.Arg154Pro) rs781124934
NM_000152.5(GAA):c.461_469del (p.Arg154_Thr156del) rs2039044722
NM_000152.5(GAA):c.465dup (p.Thr156fs)
NM_000152.5(GAA):c.471del (p.Thr158fs) rs1057517320
NM_000152.5(GAA):c.490_524del (p.Asp163_Ile164insTer)
NM_000152.5(GAA):c.4G>T (p.Gly2Ter) rs1567825175
NM_000152.5(GAA):c.511del (p.Asp170_Val171insTer) rs2143829478
NM_000152.5(GAA):c.525_526del (p.Asn177fs) rs767882689
NM_000152.5(GAA):c.546+2T>C
NM_000152.5(GAA):c.546+2_546+5del rs1181354869
NM_000152.5(GAA):c.546+5G>T rs756024023
NM_000152.5(GAA):c.546G>C (p.Thr182=) rs143523371
NM_000152.5(GAA):c.546G>T (p.Thr182=) rs143523371
NM_000152.5(GAA):c.55del (p.Val19fs) rs1555598544
NM_000152.5(GAA):c.569G>A (p.Arg190His) rs528367092
NM_000152.5(GAA):c.569G>T (p.Arg190Leu) rs528367092
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter) rs376229714
NM_000152.5(GAA):c.596_600delinsGTGT (p.His199fs)
NM_000152.5(GAA):c.656G>A (p.Gly219Glu)
NM_000152.5(GAA):c.671G>C (p.Arg224Pro) rs200210219
NM_000152.5(GAA):c.671G>T (p.Arg224Leu)
NM_000152.5(GAA):c.692+2T>C rs1555599171
NM_000152.5(GAA):c.693-1G>C rs2143845687
NM_000152.5(GAA):c.693-2A>C
NM_000152.5(GAA):c.700A>G (p.Thr234Ala)
NM_000152.5(GAA):c.710C>T (p.Ala237Val) rs121907944
NM_000152.5(GAA):c.711_712dup (p.Pro238fs) rs1555599586
NM_000152.5(GAA):c.716del (p.Leu239fs) rs1555599594
NM_000152.5(GAA):c.732G>C (p.Gln244His) rs1178922366
NM_000152.5(GAA):c.736del (p.Leu246fs) rs886043920
NM_000152.5(GAA):c.755dup (p.Pro253fs) rs1555599619
NM_000152.5(GAA):c.766_767insC (p.Tyr256fs) rs1555599637
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs) rs786204532
NM_000152.5(GAA):c.768dup (p.Ile257fs) rs1555599644
NM_000152.5(GAA):c.796C>T (p.Pro266Ser) rs1555599667
NM_000152.5(GAA):c.797C>T (p.Pro266Leu) rs1567828977
NM_000152.5(GAA):c.806_830del (p.Leu269fs) rs1598575231
NM_000152.5(GAA):c.827_845del (p.Ile276fs) rs2143847172
NM_000152.5(GAA):c.829_830del (p.Thr277fs)
NM_000152.5(GAA):c.836G>A (p.Trp279Ter) rs2039122730
NM_000152.5(GAA):c.844G>C (p.Asp282His)
NM_000152.5(GAA):c.84dup (p.His29fs)
NM_000152.5(GAA):c.858+1G>A
NM_000152.5(GAA):c.858+2T>A rs1555599713
NM_000152.5(GAA):c.859-1G>C
NM_000152.5(GAA):c.859-2A>G rs2143848897
NM_000152.5(GAA):c.873_874del (p.Tyr292fs)
NM_000152.5(GAA):c.874T>C (p.Tyr292His)
NM_000152.5(GAA):c.896T>G (p.Leu299Arg) rs121907940
NM_000152.5(GAA):c.904G>T (p.Glu302Ter) rs2039131123
NM_000152.5(GAA):c.917C>A (p.Ser306Ter) rs138097673
NM_000152.5(GAA):c.922C>G (p.His308Asp)
NM_000152.5(GAA):c.925G>T (p.Gly309Trp)
NM_000152.5(GAA):c.935del (p.Leu312fs)
NM_000152.5(GAA):c.953T>A (p.Met318Lys) rs121907936
NM_000152.5(GAA):c.956-5_957del
NM_000152.5(GAA):c.971dup (p.Ser325fs) rs2143852733
NM_000152.5(GAA):c.989G>A (p.Trp330Ter) rs1555599960
NM_000152.5(GAA):c.990G>C (p.Trp330Cys)
NM_000154.2(GALK1):c.1017T>A (p.Tyr339Ter) rs1026685248
NM_000154.2(GALK1):c.102_103dup (p.Pro35fs) rs771067891
NM_000154.2(GALK1):c.1083_1096delinsATG (p.Pro362fs) rs2061563475
NM_000154.2(GALK1):c.1150G>C (p.Ala384Pro)
NM_000154.2(GALK1):c.130C>T (p.His44Tyr) rs1555748926
NM_000154.2(GALK1):c.166-5_227dup rs2143605351
NM_000154.2(GALK1):c.1A>C (p.Met1Leu) rs1311294794
NM_000154.2(GALK1):c.205A>T (p.Lys69Ter)
NM_000154.2(GALK1):c.250G>T (p.Glu84Ter) rs761638957
NM_000154.2(GALK1):c.265C>T (p.Gln89Ter) rs2143605190
NM_000154.2(GALK1):c.286C>T (p.Gln96Ter)
NM_000154.2(GALK1):c.298G>T (p.Glu100Ter) rs2061599016
NM_000154.2(GALK1):c.317G>A (p.Trp106Ter) rs2061598873
NM_000154.2(GALK1):c.331A>T (p.Lys111Ter)
NM_000154.2(GALK1):c.350del (p.Tyr117fs)
NM_000154.2(GALK1):c.355+1G>A
NM_000154.2(GALK1):c.364del (p.Leu122fs) rs2061596711
NM_000154.2(GALK1):c.403del (p.Leu135fs)
NM_000154.2(GALK1):c.410G>A (p.Gly137Asp) rs915070690
NM_000154.2(GALK1):c.410del (p.Gly137fs) rs767329054
NM_000154.2(GALK1):c.410dup (p.Gly138fs) rs767329054
NM_000154.2(GALK1):c.425_426delinsT (p.Ser142fs)
NM_000154.2(GALK1):c.460C>T (p.Gln154Ter) rs2143603585
NM_000154.2(GALK1):c.475+1G>A
NM_000154.2(GALK1):c.476-2A>G
NM_000154.2(GALK1):c.479C>A (p.Ser160Ter) rs575077063
NM_000154.2(GALK1):c.514C>T (p.Gln172Ter) rs767799179
NM_000154.2(GALK1):c.520G>T (p.Glu174Ter)
NM_000154.2(GALK1):c.547_562del (p.Gly183fs)
NM_000154.2(GALK1):c.573del (p.Met192fs)
NM_000154.2(GALK1):c.580C>T (p.Gln194Ter)
NM_000154.2(GALK1):c.612-1G>A rs1555748556
NM_000154.2(GALK1):c.612-1G>T
NM_000154.2(GALK1):c.686dup (p.His229fs)
NM_000154.2(GALK1):c.689_711dup (p.Val238fs) rs1555748534
NM_000154.2(GALK1):c.708C>A (p.Tyr236Ter)
NM_000154.2(GALK1):c.738_739insCTTTCCTT (p.Ala247fs)
NM_000154.2(GALK1):c.775C>T (p.Gln259Ter) rs1599335132
NM_000154.2(GALK1):c.784G>T (p.Glu262Ter) rs2061592335
NM_000154.2(GALK1):c.793+2T>G
NM_000154.2(GALK1):c.79G>T (p.Glu27Ter) rs1555748940
NM_000154.2(GALK1):c.808_809delinsA (p.Val270fs)
NM_000154.2(GALK1):c.818_819del (p.Glu273fs)
NM_000154.2(GALK1):c.847_860dup (p.Thr288fs)
NM_000154.2(GALK1):c.853_874del (p.Ile285fs) rs770087254
NM_000154.2(GALK1):c.901A>T (p.Arg301Ter)
NM_000154.2(GALK1):c.944+1G>T rs113464656
NM_000154.2(GALK1):c.945-36_992del rs2143586633
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.4(GALT):c.1048del (p.Thr350fs) rs775762045
NM_000155.4(GALT):c.1049C>A (p.Thr350Asn) rs775317639
NM_000155.4(GALT):c.1049C>G (p.Thr350Ser)
NM_000155.4(GALT):c.1052del (p.Pro351fs) rs111033813
NM_000155.4(GALT):c.1055A>G (p.Glu352Gly) rs1821203474
NM_000155.4(GALT):c.1057C>T (p.Gln353Ter) rs111033818
NM_000155.4(GALT):c.1059+1G>T rs1554709516
NM_000155.4(GALT):c.1060-1G>A rs367543268
NM_000155.4(GALT):c.1060-2A>G
NM_000155.4(GALT):c.1087G>A (p.Glu363Lys) rs367543273
NM_000155.4(GALT):c.1087G>T (p.Glu363Ter)
NM_000155.4(GALT):c.1140A>C (p.Ter380Cys) rs111033827
NM_000155.4(GALT):c.132del (p.Ser45fs) rs1554709139
NM_000155.4(GALT):c.133T>C (p.Ser45Pro) rs2132341560
NM_000155.4(GALT):c.134C>T (p.Ser45Leu) rs111033652
NM_000155.4(GALT):c.14_23dup (p.Gln9fs) rs1554709110
NM_000155.4(GALT):c.152G>T (p.Arg51Leu) rs111033648
NM_000155.4(GALT):c.164del (p.Gly55fs) rs1554709146
NM_000155.4(GALT):c.165_174del (p.Gln56fs)
NM_000155.4(GALT):c.180del (p.Gln60fs) rs1554709148
NM_000155.4(GALT):c.189dup (p.Thr64fs) rs1554709151
NM_000155.4(GALT):c.18del (p.Asp7fs) rs111033638
NM_000155.4(GALT):c.209del (p.Pro70fs)
NM_000155.4(GALT):c.20del (p.Asp7fs)
NM_000155.4(GALT):c.213dup (p.Asn72fs)
NM_000155.4(GALT):c.221T>C (p.Leu74Pro) rs111033663
NM_000155.4(GALT):c.231_233delinsT (p.Ala78fs)
NM_000155.4(GALT):c.238C>T (p.Arg80Ter) rs111033664
NM_000155.4(GALT):c.241G>A (p.Ala81Thr) rs111033665
NM_000155.4(GALT):c.25C>T (p.Gln9Ter) rs111033848
NM_000155.4(GALT):c.267C>G (p.Tyr89Ter)
NM_000155.4(GALT):c.289A>G (p.Asn97Asp) rs1564100957
NM_000155.4(GALT):c.290A>G (p.Asn97Ser) rs111033669
NM_000155.4(GALT):c.290A>T (p.Asn97Ile) rs111033669
NM_000155.4(GALT):c.292G>C (p.Asp98His) rs111033670
NM_000155.4(GALT):c.29_48delinsGACC (p.Gln10fs) rs1587236467
NM_000155.4(GALT):c.2T>C (p.Met1Thr) rs771702963
NM_000155.4(GALT):c.328+2T>G
NM_000155.4(GALT):c.368G>A (p.Arg123Gln) rs111033675
NM_000155.4(GALT):c.378-2A>G rs1554709280
NM_000155.4(GALT):c.378-2A>T rs1554709280
NM_000155.4(GALT):c.37C>T (p.Gln13Ter)
NM_000155.4(GALT):c.385A>T (p.Met129Leu) rs193922248
NM_000155.4(GALT):c.394C>T (p.His132Tyr) rs111033688
NM_000155.4(GALT):c.403T>G (p.Ser135Ala) rs2132343082
NM_000155.4(GALT):c.404C>G (p.Ser135Trp) rs111033690
NM_000155.4(GALT):c.405G>A (p.Ser135=) rs141232328
NM_000155.4(GALT):c.412del (p.Thr138fs)
NM_000155.4(GALT):c.413C>G (p.Thr138Arg) rs111033686
NM_000155.4(GALT):c.41delinsTT (p.Ala14fs) rs111033634
NM_000155.4(GALT):c.424A>C (p.Met142Leu)
NM_000155.4(GALT):c.424A>G (p.Met142Val) rs111033692
NM_000155.4(GALT):c.428C>T (p.Ser143Leu) rs111033697
NM_000155.4(GALT):c.450del (p.Val151fs)
NM_000155.4(GALT):c.468_469delinsT (p.Val157fs)
NM_000155.4(GALT):c.499T>C (p.Trp167Arg) rs111033708
NM_000155.4(GALT):c.501G>C (p.Trp167Cys)
NM_000155.4(GALT):c.502G>A (p.Val168Met) rs367543258
NM_000155.4(GALT):c.502G>T (p.Val168Leu) rs367543258
NM_000155.4(GALT):c.508-1G>C rs398123181
NM_000155.4(GALT):c.513del (p.Phe171fs) rs886044409
NM_000155.4(GALT):c.513dup (p.Glu172Ter) rs886044409
NM_000155.4(GALT):c.514G>T (p.Glu172Ter) rs780156428
NM_000155.4(GALT):c.524G>A (p.Gly175Asp) rs111033718
NM_000155.4(GALT):c.533T>G (p.Met178Arg)
NM_000155.4(GALT):c.535G>C (p.Gly179Arg)
NM_000155.4(GALT):c.547C>A (p.Pro183Thr) rs111033721
NM_000155.4(GALT):c.550C>G (p.His184Asp) rs111033716
NM_000155.4(GALT):c.550dup (p.His184fs)
NM_000155.4(GALT):c.552C>A (p.His184Gln) rs111033717
NM_000155.4(GALT):c.556C>A (p.His186Asn) rs111033725
NM_000155.4(GALT):c.557A>G (p.His186Arg)
NM_000155.4(GALT):c.558C>A (p.His186Gln) rs886042097
NM_000155.4(GALT):c.561C>A (p.Cys187Ter) rs1821157539
NM_000155.4(GALT):c.561_564+9del rs1554709342
NM_000155.4(GALT):c.562C>T (p.Gln188Ter) rs398123182
NM_000155.4(GALT):c.564+1G>A rs111033723
NM_000155.4(GALT):c.564+1G>T rs111033723
NM_000155.4(GALT):c.565-2A>G rs111033731
NM_000155.4(GALT):c.565_578del
NM_000155.4(GALT):c.572C>T (p.Ala191Val) rs794727838
NM_000155.4(GALT):c.586C>G (p.Pro196Ala)
NM_000155.4(GALT):c.587C>T (p.Pro196Leu) rs886042066
NM_000155.4(GALT):c.598C>T (p.Gln200Ter) rs1564101619
NM_000155.4(GALT):c.598del (p.Gln200fs) rs111033738
NM_000155.4(GALT):c.604G>A (p.Glu202Lys) rs2132344159
NM_000155.4(GALT):c.608A>G (p.Glu203Gly) rs2132344172
NM_000155.4(GALT):c.611G>C (p.Arg204Pro) rs111033740
NM_000155.4(GALT):c.615_616del (p.Gln206fs)
NM_000155.4(GALT):c.617A>G (p.Gln206Arg) rs1587239309
NM_000155.4(GALT):c.619C>T (p.Gln207Ter) rs111033743
NM_000155.4(GALT):c.625T>G (p.Tyr209Asp) rs2132344222
NM_000155.4(GALT):c.626A>C (p.Tyr209Ser) rs111033744
NM_000155.4(GALT):c.627T>A (p.Tyr209Ter) rs1057516720
NM_000155.4(GALT):c.634C>T (p.Gln212Ter) rs111033746
NM_000155.4(GALT):c.645_646insGAGT (p.Pro216fs)
NM_000155.4(GALT):c.650T>C (p.Leu217Pro) rs111033741
NM_000155.4(GALT):c.652_653del (p.Leu218fs)
NM_000155.4(GALT):c.652del (p.Leu217_Leu218insTer) rs111033742
NM_000155.4(GALT):c.667C>A (p.Arg223Ser) rs111033750
NM_000155.4(GALT):c.668G>A (p.Arg223His)
NM_000155.4(GALT):c.669_670del (p.Gln224fs)
NM_000155.4(GALT):c.670C>T (p.Gln224Ter) rs1821166869
NM_000155.4(GALT):c.670del (p.Gln224fs) rs1057516883
NM_000155.4(GALT):c.680_681del (p.Leu227fs)
NM_000155.4(GALT):c.687+1G>T rs193922250
NM_000155.4(GALT):c.688-1G>C rs1821175162
NM_000155.4(GALT):c.691C>G (p.Arg231Gly) rs111033749
NM_000155.4(GALT):c.719_728del (p.Leu240fs) rs111033838
NM_000155.4(GALT):c.737G>A (p.Trp246Ter) rs1821176206
NM_000155.4(GALT):c.752_753delinsCT (p.Tyr251Ser) rs886043390
NM_000155.4(GALT):c.754del (p.Gln252fs)
NM_000155.4(GALT):c.761dup (p.Leu255fs) rs747036550
NM_000155.4(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000155.4(GALT):c.796G>T (p.Glu266Ter) rs1821178833
NM_000155.4(GALT):c.815G>A (p.Arg272His) rs111033831
NM_000155.4(GALT):c.815G>T (p.Arg272Leu)
NM_000155.4(GALT):c.82+2del rs794726876
NM_000155.4(GALT):c.820+13A>G rs111033768
NM_000155.4(GALT):c.821-1del rs2132345349
NM_000155.4(GALT):c.823C>G (p.Leu275Val) rs796051967
NM_000155.4(GALT):c.83-2A>G rs1057517415
NM_000155.4(GALT):c.835A>G (p.Met279Val)
NM_000155.4(GALT):c.836T>G (p.Met279Arg) rs111033779
NM_000155.4(GALT):c.849_850del (p.Leu283fs)
NM_000155.4(GALT):c.853A>T (p.Lys285Ter) rs1821183505
NM_000155.4(GALT):c.854A>C (p.Lys285Thr)
NM_000155.4(GALT):c.856_864del (p.Tyr286_Asn288del) rs1587240095
NM_000155.4(GALT):c.86A>G (p.His29Arg) rs2132341442
NM_000155.4(GALT):c.881T>A (p.Phe294Tyr) rs111033781
NM_000155.4(GALT):c.883C>T (p.Pro295Ser)
NM_000155.4(GALT):c.888C>A (p.Tyr296Ter) rs1554709447
NM_000155.4(GALT):c.888C>G (p.Tyr296Ter) rs1554709447
NM_000155.4(GALT):c.892A>G (p.Met298Val) rs1821187430
NM_000155.4(GALT):c.895G>A (p.Gly299Ser) rs1587240180
NM_000155.4(GALT):c.896G>A (p.Gly299Asp)
NM_000155.4(GALT):c.900G>T (p.Trp300Cys)
NM_000155.4(GALT):c.904+1G>T rs367543271
NM_000155.4(GALT):c.905-2A>G rs398123187
NM_000155.4(GALT):c.910C>G (p.Pro304Ala)
NM_000155.4(GALT):c.910C>T (p.Pro304Ser) rs2132346162
NM_000155.4(GALT):c.912_913insGA (p.Thr305fs)
NM_000155.4(GALT):c.912dup (p.Thr305fs) rs746285782
NM_000155.4(GALT):c.91C>A (p.His31Asn) rs111033643
NM_000155.4(GALT):c.957C>A (p.His319Gln) rs111033792
NM_000155.4(GALT):c.957C>G (p.His319Gln) rs111033792
NM_000155.4(GALT):c.971C>T (p.Pro324Leu)
NM_000155.4(GALT):c.979_986del (p.Leu327fs) rs1554709502
NM_000155.4(GALT):c.980T>C (p.Leu327Pro) rs111033832
NM_000155.4(GALT):c.98G>A (p.Arg33His) rs111033829
NM_000155.4(GALT):c.997C>T (p.Arg333Trp) rs111033800
NM_000158.4(GBE1):c.1000del (p.Ile334fs)
NM_000158.4(GBE1):c.1053del (p.Phe351fs)
NM_000158.4(GBE1):c.1108+2T>C
NM_000158.4(GBE1):c.1109-1G>A rs763258786
NM_000158.4(GBE1):c.1109-2A>G
NM_000158.4(GBE1):c.1141_1142del (p.Phe381fs)
NM_000158.4(GBE1):c.1236+1G>A
NM_000158.4(GBE1):c.1245_1258del (p.Gly416fs) rs1703800818
NM_000158.4(GBE1):c.1269_1270insC (p.Ile424fs)
NM_000158.4(GBE1):c.1276C>T (p.Gln426Ter)
NM_000158.4(GBE1):c.1336-1G>A rs375253942
NM_000158.4(GBE1):c.1364G>A (p.Trp455Ter)
NM_000158.4(GBE1):c.1365G>A (p.Trp455Ter)
NM_000158.4(GBE1):c.143+2T>C rs2107250439
NM_000158.4(GBE1):c.1443delinsCGC (p.Gln482fs)
NM_000158.4(GBE1):c.1484T>C (p.Met495Thr) rs1456579860
NM_000158.4(GBE1):c.1496T>A (p.Met499Lys)
NM_000158.4(GBE1):c.1543C>G (p.Arg515Gly)
NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys) rs80338672
NM_000158.4(GBE1):c.1561A>T (p.Lys521Ter) rs773775991
NM_000158.4(GBE1):c.1570C>G (p.Arg524Gly) rs137852888
NM_000158.4(GBE1):c.1612T>G (p.Phe538Val)
NM_000158.4(GBE1):c.1618+1G>A rs1703670302
NM_000158.4(GBE1):c.1619-1G>A rs2106872434
NM_000158.4(GBE1):c.1622A>G (p.Asn541Ser)
NM_000158.4(GBE1):c.1634A>G (p.His545Arg) rs137852889
NM_000158.4(GBE1):c.1671dup (p.Glu558Ter)
NM_000158.4(GBE1):c.1675_1676del (p.Ser559fs)
NM_000158.4(GBE1):c.167del (p.Ile55_Leu56insTer)
NM_000158.4(GBE1):c.1680C>A (p.Tyr560Ter) rs1559637815
NM_000158.4(GBE1):c.1706del (p.His568_Leu569insTer) rs1367364158
NM_000158.4(GBE1):c.1738del (p.Phe579_Leu580insTer)
NM_000158.4(GBE1):c.1799_1803+8del
NM_000158.4(GBE1):c.1803+1G>A rs1273791312
NM_000158.4(GBE1):c.1804-2A>T rs1224090803
NM_000158.4(GBE1):c.1825G>T (p.Glu609Ter) rs772802187
NM_000158.4(GBE1):c.1934+1A>G
NM_000158.4(GBE1):c.1934+2T>A rs752625236
NM_000158.4(GBE1):c.1934+2T>C
NM_000158.4(GBE1):c.1935-1C>A
NM_000158.4(GBE1):c.1935-1C>T rs1475447884
NM_000158.4(GBE1):c.1935-2A>G
NM_000158.4(GBE1):c.1935-2del rs2106810015
NM_000158.4(GBE1):c.2052+1G>A rs2106809795
NM_000158.4(GBE1):c.2052+1G>T rs2106809795
NM_000158.4(GBE1):c.314-1G>C
NM_000158.4(GBE1):c.314-2A>G rs2107114825
NM_000158.4(GBE1):c.321G>A (p.Trp107Ter) rs2107114808
NM_000158.4(GBE1):c.336C>A (p.Tyr112Ter) rs773473771
NM_000158.4(GBE1):c.430-1G>C
NM_000158.4(GBE1):c.47del (p.Ala16fs) rs2107250805
NM_000158.4(GBE1):c.480G>A (p.Trp160Ter) rs776943352
NM_000158.4(GBE1):c.556-1G>A
NM_000158.4(GBE1):c.556-2A>G
NM_000158.4(GBE1):c.691+5G>C rs397515344
NM_000158.4(GBE1):c.692-1G>A
NM_000158.4(GBE1):c.753C>G (p.Tyr251Ter)
NM_000158.4(GBE1):c.754C>T (p.Gln252Ter)
NM_000158.4(GBE1):c.755_756delinsC (p.Gln252fs)
NM_000158.4(GBE1):c.770T>C (p.Phe257Ser) rs1576183537
NM_000158.4(GBE1):c.783-1G>A rs397515342
NM_000158.4(GBE1):c.783C>A (p.Ser261Arg)
NM_000158.4(GBE1):c.783C>G (p.Ser261Arg) rs1559673607
NM_000158.4(GBE1):c.790G>A (p.Gly264Arg)
NM_000158.4(GBE1):c.791G>A (p.Gly264Glu) rs754525424
NM_000158.4(GBE1):c.791G>C (p.Gly264Ala)
NM_000158.4(GBE1):c.854T>G (p.Leu285Ter)
NM_000158.4(GBE1):c.872_874delinsTT (p.His291fs)
NM_000158.4(GBE1):c.909_912del (p.Phe303fs) rs2107059544
NM_000158.4(GBE1):c.955C>G (p.His319Asp)
NM_000158.4(GBE1):c.956A>G (p.His319Arg) rs1490328834
NM_000158.4(GBE1):c.957_958insCTAT (p.Asp320delinsLeuTer)
NM_000158.4(GBE1):c.985T>C (p.Tyr329His)
NM_000158.4(GBE1):c.992+2T>G rs772349876
NM_000158.4(GBE1):c.993-1dup
NM_000158.4(GBE1):c.993-2A>G
NM_000162.5(GCK):c.1002_1003delinsAA (p.Phe334_Val335delinsLeuMet) rs193922252
NM_000162.5(GCK):c.1003_1004insAA (p.Val335fs) rs193922253
NM_000162.5(GCK):c.1017G>C (p.Glu339Asp) rs954171452
NM_000162.5(GCK):c.1018A>G (p.Ser340Gly) rs193922255
NM_000162.5(GCK):c.1019+20G>A
NM_000162.5(GCK):c.1019G>A (p.Ser340Asn) rs1376631949
NM_000162.5(GCK):c.1019G>C (p.Ser340Thr)
NM_000162.5(GCK):c.1020-1G>A rs193922258
NM_000162.5(GCK):c.1020-1G>C rs193922258
NM_000162.5(GCK):c.102G>A (p.Met34Ile) rs2096283252
NM_000162.5(GCK):c.1030G>T (p.Asp344Tyr) rs864321656
NM_000162.5(GCK):c.1031_1034dup (p.Lys346fs) rs1583592247
NM_000162.5(GCK):c.103A>T (p.Arg35Ter) rs193922259
NM_000162.5(GCK):c.1064T>C (p.Leu355Pro) rs1583592156
NM_000162.5(GCK):c.1079C>A (p.Ser360Ter) rs2128819357
NM_000162.5(GCK):c.107G>C (p.Arg36Pro) rs193922261
NM_000162.5(GCK):c.1087G>A (p.Asp363Asn) rs1064793134
NM_000162.5(GCK):c.1112G>T (p.Cys371Phe) rs587780343
NM_000162.5(GCK):c.1114G>T (p.Glu372Ter) rs193922262
NM_000162.5(GCK):c.1124C>T (p.Ser375Phe) rs193922263
NM_000162.5(GCK):c.1130G>A (p.Arg377His) rs193922264
NM_000162.5(GCK):c.1130_1138del (p.Arg377_Ala379del) rs1131691505
NM_000162.5(GCK):c.1136C>A (p.Ala379Glu) rs193922265
NM_000162.5(GCK):c.113A>C (p.Gln38Pro) rs1064794268
NM_000162.5(GCK):c.1144T>C (p.Cys382Arg) rs1554334613
NM_000162.5(GCK):c.1145G>C (p.Cys382Ser)
NM_000162.5(GCK):c.1148C>T (p.Ser383Leu) rs777870079
NM_000162.5(GCK):c.1148del (p.Ser383fs) rs2096271597
NM_000162.5(GCK):c.1151C>T (p.Ala384Val) rs1583591747
NM_000162.5(GCK):c.1153G>A (p.Gly385Arg) rs193922267
NM_000162.5(GCK):c.1155del (p.Leu386fs) rs1400535021
NM_000162.5(GCK):c.1157T>C (p.Leu386Pro) rs193922268
NM_000162.5(GCK):c.115_117del (p.Lys39del) rs2096283216
NM_000162.5(GCK):c.1160C>A (p.Ala387Glu) rs193921338
NM_000162.5(GCK):c.1160C>T (p.Ala387Val) rs193921338
NM_000162.5(GCK):c.1163dup (p.Val389fs) rs886042015
NM_000162.5(GCK):c.1169T>A (p.Ile390Asn) rs193921340
NM_000162.5(GCK):c.1169T>C (p.Ile390Thr) rs193921340
NM_000162.5(GCK):c.1173C>A (p.Asn391Lys) rs1554334579
NM_000162.5(GCK):c.1174C>T (p.Arg392Cys) rs1167124132
NM_000162.5(GCK):c.1175G>T (p.Arg392Leu) rs193922269
NM_000162.5(GCK):c.1178T>C (p.Met393Thr) rs2096271425
NM_000162.5(GCK):c.118G>A (p.Glu40Lys) rs794727236
NM_000162.5(GCK):c.1190G>A (p.Arg397His) rs193929375
NM_000162.5(GCK):c.1190_1253+11dup
NM_000162.5(GCK):c.122T>G (p.Met41Arg)
NM_000162.5(GCK):c.122_123insAGGAGATG (p.Met41fs)
NM_000162.5(GCK):c.1235T>G (p.Val412Gly) rs1554334539
NM_000162.5(GCK):c.1240A>G (p.Lys414Glu) rs193922272
NM_000162.5(GCK):c.1247A>C (p.His416Pro) rs1583591303
NM_000162.5(GCK):c.1251del (p.Ser418fs) rs2128819092
NM_000162.5(GCK):c.1253+2T>G rs1057524902
NM_000162.5(GCK):c.1255T>C (p.Phe419Leu) rs1554334478
NM_000162.5(GCK):c.1260G>T (p.Lys420Asn)
NM_000162.5(GCK):c.1264C>T (p.Arg422Trp)
NM_000162.5(GCK):c.1268T>A (p.Phe423Tyr) rs193922273
NM_000162.5(GCK):c.1279_1358delinsTTACA (p.Val427_Ser453delinsLeuGln) rs193922274
NM_000162.5(GCK):c.1280_1283dup (p.Arg429fs) rs2096270699
NM_000162.5(GCK):c.1283_1284del (p.Arg428fs) rs193922275
NM_000162.5(GCK):c.1284_1362del (p.Arg429fs) rs2096270423
NM_000162.5(GCK):c.1289T>C (p.Leu430Pro) rs193922277
NM_000162.5(GCK):c.128G>A (p.Arg43His) rs764232985
NM_000162.5(GCK):c.1297_1300dup (p.Cys434Ter)
NM_000162.5(GCK):c.1303_1306dup (p.Ile436fs)
NM_000162.5(GCK):c.1305dup (p.Ile436fs)
NM_000162.5(GCK):c.1307T>A (p.Ile436Asn) rs193922278
NM_000162.5(GCK):c.1307_1319del (p.Ile436fs)
NM_000162.5(GCK):c.1312T>G (p.Phe438Val) rs2128818820
NM_000162.5(GCK):c.131G>A (p.Gly44Asp) rs193922279
NM_000162.5(GCK):c.1322C>T (p.Ser441Leu) rs1286804191
NM_000162.5(GCK):c.1332del (p.Ser445fs) rs193922280
NM_000162.5(GCK):c.1339C>G (p.Arg447Gly) rs193922281
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln) rs1131691416
NM_000162.5(GCK):c.1340G>C (p.Arg447Pro) rs1131691416
NM_000162.5(GCK):c.1345G>A (p.Ala449Thr) rs193922282
NM_000162.5(GCK):c.1354G>C (p.Val452Leu)
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu) rs193922283
NM_000162.5(GCK):c.1372_1373del (p.Lys458fs) rs193922284
NM_000162.5(GCK):c.146C>A (p.Thr49Asn) rs193922286
NM_000162.5(GCK):c.148C>T (p.His50Tyr) rs1562719705
NM_000162.5(GCK):c.148dup (p.His50fs) rs886041690
NM_000162.5(GCK):c.150dup (p.Glu51Ter)
NM_000162.5(GCK):c.171G>A (p.Met57Ile) rs1057520109
NM_000162.5(GCK):c.175C>T (p.Pro59Ser) rs193922287
NM_000162.5(GCK):c.207A>G (p.Ser69=) rs779548342
NM_000162.5(GCK):c.208+15C>G
NM_000162.5(GCK):c.208+2T>C rs2128823089
NM_000162.5(GCK):c.208G>A (p.Glu70Lys) rs2128823091
NM_000162.5(GCK):c.208G>C (p.Glu70Gln)
NM_000162.5(GCK):c.214G>A (p.Gly72Arg) rs193922289
NM_000162.5(GCK):c.245C>T (p.Thr82Ile)
NM_000162.5(GCK):c.253A>T (p.Arg85Trp) rs193922290
NM_000162.5(GCK):c.269A>C (p.Lys90Thr) rs2128822695
NM_000162.5(GCK):c.291del (p.Gln98fs) rs1562719029
NM_000162.5(GCK):c.295del (p.Trp99fs) rs1554335752
NM_000162.5(GCK):c.304A>T (p.Lys102Ter) rs193922291
NM_000162.5(GCK):c.316C>T (p.Gln106Ter) rs2096281702
NM_000162.5(GCK):c.317A>C (p.Gln106Pro)
NM_000162.5(GCK):c.317_333del (p.Gln106fs) rs797045595
NM_000162.5(GCK):c.322T>G (p.Tyr108Asp) rs193922292
NM_000162.5(GCK):c.359dup (p.Met121fs) rs2128822614
NM_000162.5(GCK):c.364-1G>A rs1057521094
NM_000162.5(GCK):c.364C>A (p.Leu122Ile) rs1554335616
NM_000162.5(GCK):c.371A>T (p.Asp124Val) rs1554335612
NM_000162.5(GCK):c.386G>A (p.Cys129Tyr) rs2128822108
NM_000162.5(GCK):c.391T>C (p.Ser131Pro) rs104894010
NM_000162.5(GCK):c.393del (p.Asp132fs) rs193922295
NM_000162.5(GCK):c.397T>C (p.Phe133Leu) rs2128822093
NM_000162.5(GCK):c.431del (p.Leu144fs) rs1064796410
NM_000162.5(GCK):c.440del (p.Gly147fs) rs1554335585
NM_000162.5(GCK):c.449T>C (p.Phe150Ser) rs193922297
NM_000162.5(GCK):c.455T>C (p.Phe152Ser)
NM_000162.5(GCK):c.457C>T (p.Pro153Ser) rs193922300
NM_000162.5(GCK):c.46-2A>G rs1554335966
NM_000162.5(GCK):c.461T>C (p.Val154Ala)
NM_000162.5(GCK):c.463A>G (p.Arg155Gly) rs193922301
NM_000162.5(GCK):c.466C>T (p.His156Tyr) rs1562718043
NM_000162.5(GCK):c.469G>A (p.Glu157Lys) rs1554335570
NM_000162.5(GCK):c.475A>G (p.Ile159Val) rs1319364468
NM_000162.5(GCK):c.482A>G (p.Lys161Arg)
NM_000162.5(GCK):c.483+2T>C rs1554335564
NM_000162.5(GCK):c.483+2_483+16del rs1583601110
NM_000162.5(GCK):c.483G>A (p.Lys161=) rs193922302
NM_000162.5(GCK):c.484-11_484-6del
NM_000162.5(GCK):c.485G>A (p.Gly162Asp) rs1170194230
NM_000162.5(GCK):c.491T>C (p.Leu164Pro) rs2096278847
NM_000162.5(GCK):c.499T>G (p.Trp167Gly) rs1481197092
NM_000162.5(GCK):c.509G>T (p.Gly170Val) rs193922303
NM_000162.5(GCK):c.523G>A (p.Gly175Arg) rs587780344
NM_000162.5(GCK):c.524G>C (p.Gly175Ala) rs2128821624
NM_000162.5(GCK):c.527C>G (p.Ala176Gly) rs193922304
NM_000162.5(GCK):c.52C>T (p.Gln18Ter) rs1300199281
NM_000162.5(GCK):c.532G>A (p.Gly178Arg) rs193922305
NM_000162.5(GCK):c.540T>G (p.Asn180Lys) rs1554335444
NM_000162.5(GCK):c.542T>C (p.Val181Ala) rs193922306
NM_000162.5(GCK):c.554T>C (p.Leu185Pro)
NM_000162.5(GCK):c.563C>T (p.Ala188Val) rs193922307
NM_000162.5(GCK):c.566T>C (p.Ile189Thr) rs1554335441
NM_000162.5(GCK):c.579+4del
NM_000162.5(GCK):c.579G>T (p.Gly193=) rs2128821570
NM_000162.5(GCK):c.57C>G (p.Ile19Met) rs193922308
NM_000162.5(GCK):c.580-1G>C
NM_000162.5(GCK):c.587A>G (p.Glu196Gly) rs193922309
NM_000162.5(GCK):c.601G>T (p.Ala201Ser) rs794727775
NM_000162.5(GCK):c.604A>G (p.Met202Val) rs193922310
NM_000162.5(GCK):c.614A>G (p.Asp205Gly) rs2128821509
NM_000162.5(GCK):c.614A>T (p.Asp205Val) rs2128821509
NM_000162.5(GCK):c.615C>G (p.Asp205Glu) rs193922312
NM_000162.5(GCK):c.616A>C (p.Thr206Pro) rs587780346
NM_000162.5(GCK):c.623C>T (p.Ala208Val) rs746913146
NM_000162.5(GCK):c.626C>T (p.Thr209Met) rs1583599303
NM_000162.5(GCK):c.627GAT[3] (p.Met210_Ile211insMet)
NM_000162.5(GCK):c.629T>C (p.Met210Thr) rs80356654
NM_000162.5(GCK):c.630G>T (p.Met210Ile) rs193922313
NM_000162.5(GCK):c.635_637del (p.Ser212del) rs193922314
NM_000162.5(GCK):c.645C>A (p.Tyr215Ter) rs144723656
NM_000162.5(GCK):c.658T>C (p.Cys220Arg) rs193922315
NM_000162.5(GCK):c.659G>A (p.Cys220Tyr) rs193922316
NM_000162.5(GCK):c.660C>A (p.Cys220Ter) rs142952813
NM_000162.5(GCK):c.666del (p.Gly223fs) rs2096278285
NM_000162.5(GCK):c.671T>C (p.Met224Thr) rs2128821476
NM_000162.5(GCK):c.677T>C (p.Val226Ala) rs193922319
NM_000162.5(GCK):c.677T>G (p.Val226Gly)
NM_000162.5(GCK):c.678_679+2del rs1554335391
NM_000162.5(GCK):c.679+1del rs193922320
NM_000162.5(GCK):c.679+5G>A
NM_000162.5(GCK):c.679G>C (p.Gly227Arg)
NM_000162.5(GCK):c.680-15C>A rs369345791
NM_000162.5(GCK):c.680-1G>A rs1057524905
NM_000162.5(GCK):c.680-2A>G rs1562715657
NM_000162.5(GCK):c.688T>C (p.Cys230Arg) rs794727839
NM_000162.5(GCK):c.694G>A (p.Ala232Thr) rs193922322
NM_000162.5(GCK):c.701A>G (p.Tyr234Cys) rs1562715620
NM_000162.5(GCK):c.704T>C (p.Met235Thr) rs193922323
NM_000162.5(GCK):c.718A>G (p.Asn240Asp) rs1562715574
NM_000162.5(GCK):c.731T>A (p.Val244Glu)
NM_000162.5(GCK):c.731T>G (p.Val244Gly)
NM_000162.5(GCK):c.748C>T (p.Arg250Cys) rs1057524904
NM_000162.5(GCK):c.74T>G (p.Leu25Arg) rs193922325
NM_000162.5(GCK):c.752T>C (p.Met251Thr) rs193922326
NM_000162.5(GCK):c.758T>C (p.Val253Ala) rs193921400
NM_000162.5(GCK):c.758T>G (p.Val253Gly) rs193921400
NM_000162.5(GCK):c.760A>C (p.Asn254His) rs193922327
NM_000162.5(GCK):c.768G>C (p.Glu256Asp) rs193922328
NM_000162.5(GCK):c.769T>C (p.Trp257Arg) rs1554335135
NM_000162.5(GCK):c.76C>T (p.Gln26Ter) rs193922329
NM_000162.5(GCK):c.771G>A (p.Trp257Ter) rs2128820597
NM_000162.5(GCK):c.776C>T (p.Ala259Val) rs1554335132
NM_000162.5(GCK):c.779T>C (p.Phe260Ser) rs193922330
NM_000162.5(GCK):c.781G>A (p.Gly261Arg) rs104894008
NM_000162.5(GCK):c.785dup (p.Asp262fs)
NM_000162.5(GCK):c.812T>C (p.Leu271Pro) rs193922332
NM_000162.5(GCK):c.824G>T (p.Arg275Leu) rs767565869
NM_000162.5(GCK):c.833A>T (p.Asp278Val) rs193922333
NM_000162.5(GCK):c.863+1G>A rs1376796469
NM_000162.5(GCK):c.863+3A>G rs193922334
NM_000162.5(GCK):c.863+5G>A
NM_000162.5(GCK):c.866A>G (p.Tyr289Cys)
NM_000162.5(GCK):c.868G>A (p.Glu290Lys) rs1487194256
NM_000162.5(GCK):c.871A>T (p.Lys291Ter) rs193922335
NM_000162.5(GCK):c.878T>C (p.Ile293Thr) rs2128820046
NM_000162.5(GCK):c.878T>G (p.Ile293Arg)
NM_000162.5(GCK):c.881G>T (p.Gly294Val)
NM_000162.5(GCK):c.883G>A (p.Gly295Ser) rs1554334905
NM_000162.5(GCK):c.89T>C (p.Leu30Pro) rs876661320
NM_000162.5(GCK):c.907C>T (p.Arg303Trp) rs193922336
NM_000162.5(GCK):c.911T>C (p.Leu304Pro) rs1554334894
NM_000162.5(GCK):c.914T>G (p.Val305Gly) rs2096273846
NM_000162.5(GCK):c.917T>A (p.Leu306Gln) rs193922337
NM_000162.5(GCK):c.917T>C (p.Leu306Pro) rs193922337
NM_000162.5(GCK):c.941T>G (p.Leu314Arg) rs1554334886
NM_000162.5(GCK):c.947T>A (p.Phe316Tyr) rs193922339
NM_000162.5(GCK):c.989T>C (p.Phe330Ser) rs1554334872
NM_000162.5(GCK):c.98T>A (p.Val33Glu) rs1554335954
NM_000162.5(GCK):c.98T>C (p.Val33Ala) rs1554335954
NM_000162.5(GCK):c.995C>T (p.Thr332Met) rs770231054
NM_000175.5(GPI):c.1269+1G>A
NM_000175.5(GPI):c.1498_1501del (p.Val500fs)
NM_000175.5(GPI):c.804+1_804+2del
NM_000175.5(GPI):c.812del (p.Gly271fs) rs2145419704
NM_000175.5(GPI):c.937_952dup (p.Val318fs)
NM_000181.4(GUSB):c.104C>A (p.Ser35Ter) rs1238361161
NM_000181.4(GUSB):c.107G>T (p.Arg36Leu) rs1264172545
NM_000181.4(GUSB):c.1084_1110del (p.Asp362_Phe370del) rs1791443181
NM_000181.4(GUSB):c.1192C>T (p.Arg398Cys)
NM_000181.4(GUSB):c.1412A>C (p.Lys471Thr) rs1302470051
NM_000181.4(GUSB):c.1469A>G (p.Asp490Gly) rs2115900875
NM_000181.4(GUSB):c.1476_1476+13del
NM_000181.4(GUSB):c.1477-1G>C
NM_000181.4(GUSB):c.1477-2A>G
NM_000181.4(GUSB):c.1654-1G>A
NM_000181.4(GUSB):c.1783del (p.Glu595fs)
NM_000181.4(GUSB):c.1832G>A (p.Arg611Gln) rs1583879945
NM_000181.4(GUSB):c.2T>G (p.Met1Arg)
NM_000181.4(GUSB):c.396+1G>A
NM_000181.4(GUSB):c.406G>A (p.Gly136Arg)
NM_000181.4(GUSB):c.560_581+13del
NM_000181.4(GUSB):c.581+1G>A
NM_000181.4(GUSB):c.647G>A (p.Arg216Gln) rs1791836120
NM_000181.4(GUSB):c.724+1G>T rs2116026958
NM_000188.3(HK1):c.1252A>G (p.Lys418Glu) rs1564557037
NM_000188.3(HK1):c.1354G>C (p.Gly452Arg) rs2132884703
NM_000188.3(HK1):c.1370C>T (p.Thr457Met) rs1057517928
NM_000188.3(HK1):c.271C>T (p.Arg91Ter)
NM_000199.5(SGSH):c.1000dup (p.Ala334fs)
NM_000199.5(SGSH):c.1042_1055delinsA (p.Leu348fs)
NM_000199.5(SGSH):c.1062del (p.Glu355fs)
NM_000199.5(SGSH):c.1063G>T (p.Glu355Ter)
NM_000199.5(SGSH):c.1069dup (p.Leu357fs)
NM_000199.5(SGSH):c.1073G>A (p.Trp358Ter)
NM_000199.5(SGSH):c.1085_1086del (p.Phe362fs)
NM_000199.5(SGSH):c.1091_1103del (p.Ser364fs) rs1567915763
NM_000199.5(SGSH):c.1097del (p.Ser366fs) rs1598738720
NM_000199.5(SGSH):c.1129C>A (p.Arg377Ser)
NM_000199.5(SGSH):c.1130G>A (p.Arg377His) rs746037899
NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.His381_Arg382insGlnArg) rs398123244
NM_000199.5(SGSH):c.1147del (p.His383fs) rs1598738369
NM_000199.5(SGSH):c.1153del (p.Arg385fs) rs2041615714
NM_000199.5(SGSH):c.1186T>C (p.Phe396Leu)
NM_000199.5(SGSH):c.118T>A (p.Tyr40Asn) rs1598758001
NM_000199.5(SGSH):c.1195G>A (p.Asp399Asn) rs1064794815
NM_000199.5(SGSH):c.1218del (p.Thr407fs)
NM_000199.5(SGSH):c.1228_1241del (p.Asp410fs)
NM_000199.5(SGSH):c.1295_1303del (p.Tyr432_Arg435delinsCys) rs1567914835
NM_000199.5(SGSH):c.1308G>A (p.Trp436Ter) rs1555620141
NM_000199.5(SGSH):c.1317C>A (p.Tyr439Ter)
NM_000199.5(SGSH):c.1340A>G (p.Glu447Gly)
NM_000199.5(SGSH):c.1375C>T (p.Gln459Ter) rs1567914459
NM_000199.5(SGSH):c.1380del (p.Leu461fs) rs1555620092
NM_000199.5(SGSH):c.1431C>A (p.Asp477Glu)
NM_000199.5(SGSH):c.1455del (p.Val486fs)
NM_000199.5(SGSH):c.148_149insAGTG (p.Leu50fs)
NM_000199.5(SGSH):c.171C>G (p.Ser57Arg) rs1131691434
NM_000199.5(SGSH):c.188C>A (p.Ala63Asp)
NM_000199.5(SGSH):c.197C>T (p.Ser66Leu)
NM_000199.5(SGSH):c.216del (p.Ser73fs) rs1555622888
NM_000199.5(SGSH):c.221G>A (p.Arg74His) rs778336949
NM_000199.5(SGSH):c.235A>C (p.Thr79Pro) rs779703983
NM_000199.5(SGSH):c.239G>T (p.Gly80Val)
NM_000199.5(SGSH):c.250-2A>G
NM_000199.5(SGSH):c.254A>G (p.Gln85Arg)
NM_000199.5(SGSH):c.267C>A (p.Tyr89Ter) rs1479456289
NM_000199.5(SGSH):c.268G>C (p.Gly90Arg) rs774010006
NM_000199.5(SGSH):c.28_37del (p.Cys9_Ala10insTer) rs1555624111
NM_000199.5(SGSH):c.333_335delinsTGGT (p.Ser112fs)
NM_000199.5(SGSH):c.341_342insGCTCACC (p.Gly115fs)
NM_000199.5(SGSH):c.356-1G>A rs1555621984
NM_000199.5(SGSH):c.356-29_380del
NM_000199.5(SGSH):c.356-2A>G rs1057517927
NM_000199.5(SGSH):c.36_88+420del
NM_000199.5(SGSH):c.396C>A (p.Tyr132Ter)
NM_000199.5(SGSH):c.466A>T (p.Lys156Ter) rs2041818115
NM_000199.5(SGSH):c.47_48del (p.Gly16fs)
NM_000199.5(SGSH):c.490C>T (p.Gln164Ter) rs1598749661
NM_000199.5(SGSH):c.506+1G>A rs763063355
NM_000199.5(SGSH):c.525_526insA (p.Ala176fs)
NM_000199.5(SGSH):c.535G>A (p.Asp179Asn)
NM_000199.5(SGSH):c.539C>T (p.Pro180Leu)
NM_000199.5(SGSH):c.54C>A (p.Cys18Ter) rs1555624080
NM_000199.5(SGSH):c.573_574del (p.Thr192fs)
NM_000199.5(SGSH):c.617G>C (p.Arg206Pro) rs104894643
NM_000199.5(SGSH):c.645C>A (p.Tyr215Ter)
NM_000199.5(SGSH):c.663+1G>A
NM_000199.5(SGSH):c.664-1G>T rs1555621425
NM_000199.5(SGSH):c.670del (p.Tyr224fs)
NM_000199.5(SGSH):c.673T>C (p.Phe225Leu) rs1057521801
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu) rs34520362
NM_000199.5(SGSH):c.691_698del (p.Ala231fs)
NM_000199.5(SGSH):c.693_705del (p.Ala232fs) rs2041772144
NM_000199.5(SGSH):c.703G>C (p.Asp235His)
NM_000199.5(SGSH):c.703G>T (p.Asp235Tyr)
NM_000199.5(SGSH):c.733C>A (p.Arg245Ser)
NM_000199.5(SGSH):c.733C>T (p.Arg245Cys) rs1455698449
NM_000199.5(SGSH):c.734G>T (p.Arg245Leu) rs104894635
NM_000199.5(SGSH):c.745+1G>C rs748525651
NM_000199.5(SGSH):c.7_16del (p.Cys3fs)
NM_000199.5(SGSH):c.823G>A (p.Gly275Arg) rs765361603
NM_000199.5(SGSH):c.866_867del (p.Gly289fs)
NM_000199.5(SGSH):c.88G>C (p.Ala30Pro) rs758793075
NM_000199.5(SGSH):c.88_88+67del rs2144830115
NM_000199.5(SGSH):c.89-2A>G rs1369704445
NM_000199.5(SGSH):c.909del (p.Lys303fs) rs775136193
NM_000199.5(SGSH):c.927C>G (p.Ser309Arg) rs1385473515
NM_000199.5(SGSH):c.949+1G>A
NM_000199.5(SGSH):c.961A>G (p.Thr321Ala) rs758756630
NM_000202.8(IDS):c.1001A>G (p.Asp334Gly) rs2089378583
NM_000202.8(IDS):c.1003C>T (p.His335Tyr) rs869025302
NM_000202.8(IDS):c.1006G>T (p.Gly336Trp) rs1557338581
NM_000202.8(IDS):c.1007-133A>G rs2124007227
NM_000202.8(IDS):c.1007G>A (p.Gly336Glu)
NM_000202.8(IDS):c.1021G>A (p.Glu341Lys) rs2124006380
NM_000202.8(IDS):c.1024C>T (p.His342Tyr) rs2089343220
NM_000202.8(IDS):c.1025A>C (p.His342Pro) rs869025303
NM_000202.8(IDS):c.104-2A>G rs2089505773
NM_000202.8(IDS):c.1040A>G (p.Lys347Arg) rs2089342939
NM_000202.8(IDS):c.1080_1081insGAATAA (p.Phe361delinsGluTer) rs2124006012
NM_000202.8(IDS):c.111_112insGA (p.Asn38fs)
NM_000202.8(IDS):c.1122C>T (p.Gly374=) rs113993948
NM_000202.8(IDS):c.1142T>G (p.Leu381Arg) rs1602730439
NM_000202.8(IDS):c.1170del (p.Met391fs)
NM_000202.8(IDS):c.117TCT[1] (p.Leu41del) rs2089505317
NM_000202.8(IDS):c.121_123del (p.Leu41del) rs2124066296
NM_000202.8(IDS):c.1249C>T (p.Gln417Ter) rs2123994961
NM_000202.8(IDS):c.1254del (p.Pro419fs) rs2123994946
NM_000202.8(IDS):c.1259del (p.Pro420fs) rs2089307675
NM_000202.8(IDS):c.1264T>C (p.Cys422Arg) rs199422229
NM_000202.8(IDS):c.1264T>G (p.Cys422Gly) rs199422229
NM_000202.8(IDS):c.1265G>A (p.Cys422Tyr) rs886044835
NM_000202.8(IDS):c.1269del (p.Val424fs)
NM_000202.8(IDS):c.133G>C (p.Asp45His) rs869025301
NM_000202.8(IDS):c.1345_1349del (p.Glu449fs)
NM_000202.8(IDS):c.136G>T (p.Asp46Tyr) rs2089504816
NM_000202.8(IDS):c.1375G>T (p.Glu459Ter) rs2123994508
NM_000202.8(IDS):c.1400C>G (p.Pro467Arg) rs1602725808
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp) rs199422231
NM_000202.8(IDS):c.1406C>T (p.Pro469Leu) rs2123994360
NM_000202.8(IDS):c.1418C>T (p.Pro473Leu) rs2089305403
NM_000202.8(IDS):c.1436_1457dup (p.Ile487fs) rs2123994213
NM_000202.8(IDS):c.1439C>T (p.Pro480Leu) rs2123994251
NM_000202.8(IDS):c.143G>C (p.Arg48Pro) rs1569560528
NM_000202.8(IDS):c.1442delinsTC (p.Ser481fs) rs2123994237
NM_000202.8(IDS):c.1454T>A (p.Ile485Lys) rs782430567
NM_000202.8(IDS):c.1478G>C (p.Arg493Pro) rs782347729
NM_000202.8(IDS):c.1494del (p.Arg498fs)
NM_000202.8(IDS):c.1504T>G (p.Trp502Gly) rs2089304297
NM_000202.8(IDS):c.1563A>T (p.Glu521Asp) rs1602725543
NM_000202.8(IDS):c.1568A>G (p.Tyr523Cys) rs2089303696
NM_000202.8(IDS):c.1591C>T (p.Gln531Ter) rs886044837
NM_000202.8(IDS):c.187A>G (p.Asn63Asp) rs193302909
NM_000202.8(IDS):c.205_206insAAACTGGCAT (p.Ser69Ter) rs2124065847
NM_000202.8(IDS):c.212G>T (p.Ser71Ile) rs113993954
NM_000202.8(IDS):c.241-3C>G rs2124063783
NM_000202.8(IDS):c.253G>A (p.Ala85Thr) rs113993949
NM_000202.8(IDS):c.263G>A (p.Arg88His) rs2089497431
NM_000202.8(IDS):c.275T>C (p.Leu92Pro) rs2089497300
NM_000202.8(IDS):c.285_287del (p.Arg96del)
NM_000202.8(IDS):c.292del (p.Asp98fs)
NM_000202.8(IDS):c.322T>G (p.Tyr108Asp)
NM_000202.8(IDS):c.328A>G (p.Arg110Gly) rs2124063287
NM_000202.8(IDS):c.341del (p.Gly114fs)
NM_000202.8(IDS):c.353C>T (p.Thr118Ile)
NM_000202.8(IDS):c.356del (p.Ile119fs) rs2124063133
NM_000202.8(IDS):c.359C>G (p.Pro120Arg) rs193302911
NM_000202.8(IDS):c.369_372del (p.Phe123fs)
NM_000202.8(IDS):c.404A>G (p.Lys135Arg) rs104894861
NM_000202.8(IDS):c.419-1G>A rs1557339927
NM_000202.8(IDS):c.442G>T (p.Asp148Tyr) rs1602745838
NM_000202.8(IDS):c.454A>C (p.Ser152Arg) rs2124055504
NM_000202.8(IDS):c.455G>A (p.Ser152Asn) rs193302914
NM_000202.8(IDS):c.592G>A (p.Asp198Asn) rs193302904
NM_000202.8(IDS):c.596_599del (p.Lys199fs) rs2089451657
NM_000202.8(IDS):c.601_602del (p.Ser201fs) rs2124046861
NM_000202.8(IDS):c.613G>A (p.Ala205Thr) rs864622779
NM_000202.8(IDS):c.631A>T (p.Lys211Ter)
NM_000202.8(IDS):c.636del (p.Met212fs)
NM_000202.8(IDS):c.670G>A (p.Gly224Arg) rs2089450754
NM_000202.8(IDS):c.671G>C (p.Gly224Ala)
NM_000202.8(IDS):c.671_672del (p.Gly224fs)
NM_000202.8(IDS):c.683C>T (p.Pro228Leu) rs113993945
NM_000202.8(IDS):c.685C>T (p.His229Tyr)
NM_000202.8(IDS):c.692C>G (p.Pro231Arg) rs2089450305
NM_000202.8(IDS):c.695dup (p.Arg233fs)
NM_000202.8(IDS):c.696_697del (p.Phe232fs)
NM_000202.8(IDS):c.708G>A (p.Lys236=) rs1602742620
NM_000202.8(IDS):c.737del (p.Asn246fs) rs2124042006
NM_000202.8(IDS):c.741_743delinsTA (p.Leu249fs)
NM_000202.8(IDS):c.777dup (p.Pro260fs)
NM_000202.8(IDS):c.794A>T (p.Asn265Ile)
NM_000202.8(IDS):c.801G>T (p.Trp267Cys) rs2124041510
NM_000202.8(IDS):c.811A>T (p.Arg271Trp) rs1602740912
NM_000202.8(IDS):c.817C>T (p.Arg273Trp)
NM_000202.8(IDS):c.823G>A (p.Asp275Asn)
NM_000202.8(IDS):c.823G>T (p.Asp275Tyr)
NM_000202.8(IDS):c.877C>T (p.Gln293Ter)
NM_000202.8(IDS):c.880-2_880-1delinsCC
NM_000202.8(IDS):c.908C>T (p.Ser303Phe) rs2124020665
NM_000202.8(IDS):c.913T>C (p.Ser305Pro) rs2124020632
NM_000202.8(IDS):c.922G>C (p.Asp308His) rs2124020573
NM_000202.8(IDS):c.923A>G (p.Asp308Gly) rs2124020552
NM_000202.8(IDS):c.982_996del (p.Ile328_Thr332del) rs2124020031
NM_000203.5(IDUA):c.1014_1015insATGGCCGCGTAGG (p.Ser339delinsMetAlaAlaTer)
NM_000203.5(IDUA):c.1029C>G (p.Tyr343Ter) rs764196171
NM_000203.5(IDUA):c.1039A>C (p.Ser347Arg) rs2153022349
NM_000203.5(IDUA):c.1040G>C (p.Ser347Thr) rs780106243
NM_000203.5(IDUA):c.1044C>G (p.Asn348Lys) rs746766617
NM_000203.5(IDUA):c.1045G>T (p.Asp349Tyr) rs368454909
NM_000203.5(IDUA):c.1045_1047del (p.Asp349del) rs1230096882
NM_000203.5(IDUA):c.1087C>A (p.Arg363Ser)
NM_000203.5(IDUA):c.1091C>A (p.Thr364Lys)
NM_000203.5(IDUA):c.1091C>G (p.Thr364Arg)
NM_000203.5(IDUA):c.1091C>T (p.Thr364Met) rs121965032
NM_000203.5(IDUA):c.1096_1099del (p.Thr366fs) rs2153022399
NM_000203.5(IDUA):c.1115A>G (p.Asn372Ser) rs1553917304
NM_000203.5(IDUA):c.1118_1130del (p.Asn373fs)
NM_000203.5(IDUA):c.1145T>A (p.Leu382Ter)
NM_000203.5(IDUA):c.1147C>T (p.Arg383Cys)
NM_000203.5(IDUA):c.1163C>T (p.Thr388Met) rs794727896
NM_000203.5(IDUA):c.1192GAG[1] (p.Glu399del)
NM_000203.5(IDUA):c.1219C>T (p.Gln407Ter) rs1715178056
NM_000203.5(IDUA):c.1269C>A (p.Ser423Arg) rs931627770
NM_000203.5(IDUA):c.1276_1282dup (p.Gln428fs) rs1445719596
NM_000203.5(IDUA):c.1282C>T (p.Gln428Ter)
NM_000203.5(IDUA):c.1330GAC[1] (p.Asp445del) rs1715188461
NM_000203.5(IDUA):c.1395del (p.Gly466fs) rs1386109118
NM_000203.5(IDUA):c.1402+1G>A rs398123254
NM_000203.5(IDUA):c.141GAG[1] (p.Arg48del) rs1713799705
NM_000203.5(IDUA):c.1461G>A (p.Trp487Ter) rs1715210435
NM_000203.5(IDUA):c.1466G>C (p.Arg489Pro) rs1416328981
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro) rs121965027
NM_000203.5(IDUA):c.1475G>C (p.Arg492Pro) rs121965026
NM_000203.5(IDUA):c.1513C>G (p.Arg505Gly) rs1715218377
NM_000203.5(IDUA):c.1524+1G>T rs1553917483
NM_000203.5(IDUA):c.1525-11_1536del rs1715233169
NM_000203.5(IDUA):c.1525-1G>A
NM_000203.5(IDUA):c.1525-2A>C rs2153022881
NM_000203.5(IDUA):c.1551del (p.Leu518fs)
NM_000203.5(IDUA):c.159-1G>A rs1553914935
NM_000203.5(IDUA):c.159-2A>C rs2153015588
NM_000203.5(IDUA):c.159-2A>G rs2153015588
NM_000203.5(IDUA):c.1591del (p.Arg531fs) rs1553917558
NM_000203.5(IDUA):c.1597C>A (p.Pro533Thr) rs374779600
NM_000203.5(IDUA):c.1597C>T (p.Pro533Ser)
NM_000203.5(IDUA):c.1598C>A (p.Pro533Gln)
NM_000203.5(IDUA):c.1598C>T (p.Pro533Leu) rs121965021
NM_000203.5(IDUA):c.1602del (p.Leu535fs) rs1553917566
NM_000203.5(IDUA):c.1644del (p.Gln550fs)
NM_000203.5(IDUA):c.1650+1G>A rs1434521185
NM_000203.5(IDUA):c.1650+2C>G rs1553917580
NM_000203.5(IDUA):c.1650+5G>A rs398123256
NM_000203.5(IDUA):c.1651-2A>G rs2153022990
NM_000203.5(IDUA):c.1695_1705del (p.Leu566fs) rs1220371654
NM_000203.5(IDUA):c.1709A>G (p.Asp570Gly)
NM_000203.5(IDUA):c.1709A>T (p.Asp570Val)
NM_000203.5(IDUA):c.1723_1727+4del
NM_000203.5(IDUA):c.1727+1G>A rs1577544451
NM_000203.5(IDUA):c.1728-2A>G rs1553917699
NM_000203.5(IDUA):c.1827_1828+4delinsTGTGT
NM_000203.5(IDUA):c.1829-1G>C
NM_000203.5(IDUA):c.1829-2A>G rs1553917733
NM_000203.5(IDUA):c.1832_1833del (p.Thr611fs) rs1553917735
NM_000203.5(IDUA):c.1845_1846del (p.Gly616fs) rs1553917737
NM_000203.5(IDUA):c.1858G>T (p.Val620Phe) rs2153023278
NM_000203.5(IDUA):c.1867del (p.Leu623fs) rs1553917747
NM_000203.5(IDUA):c.1868T>C (p.Leu623Pro) rs2153023287
NM_000203.5(IDUA):c.1868_1892del (p.Leu623fs) rs1553917746
NM_000203.5(IDUA):c.1874A>C (p.Tyr625Ser)
NM_000203.5(IDUA):c.1874A>G (p.Tyr625Cys) rs587779401
NM_000203.5(IDUA):c.1889G>A (p.Gly630Asp) rs2153023301
NM_000203.5(IDUA):c.1893del (p.Phe632fs) rs1553917754
NM_000203.5(IDUA):c.1897del (p.Ser633fs) rs1553917756
NM_000203.5(IDUA):c.1898C>G (p.Ser633Trp) rs886043347
NM_000203.5(IDUA):c.1907_1917del (p.Val636fs) rs1715314710
NM_000203.5(IDUA):c.224C>T (p.Ala75Val) rs1315260083
NM_000203.5(IDUA):c.24del (p.Ala9fs)
NM_000203.5(IDUA):c.256A>T (p.Lys86Ter)
NM_000203.5(IDUA):c.299_299+1delinsAT rs2153015709
NM_000203.5(IDUA):c.300-1G>A rs1553916890
NM_000203.5(IDUA):c.300-7_306del
NM_000203.5(IDUA):c.306del (p.Thr103fs) rs1461124319
NM_000203.5(IDUA):c.326_331del (p.Tyr109_Asn110del)
NM_000203.5(IDUA):c.355del (p.Asp119fs)
NM_000203.5(IDUA):c.362T>C (p.Leu121Pro) rs2153021634
NM_000203.5(IDUA):c.373C>T (p.Gln125Ter)
NM_000203.5(IDUA):c.390del (p.Phe130fs) rs1560545883
NM_000203.5(IDUA):c.398_403del (p.Met133_Gly134del) rs774605197
NM_000203.5(IDUA):c.3G>A (p.Met1Ile) rs1553914740
NM_000203.5(IDUA):c.42_43del (p.Ala15fs)
NM_000203.5(IDUA):c.439C>T (p.Gln147Ter) rs1389029860
NM_000203.5(IDUA):c.452_453del (p.Glu151fs)
NM_000203.5(IDUA):c.457A>T (p.Lys153Ter) rs1715035049
NM_000203.5(IDUA):c.488dup (p.Tyr163Ter) rs1553916950
NM_000203.5(IDUA):c.493+1G>A rs1553916957
NM_000203.5(IDUA):c.512_513del (p.His171fs) rs1715069355
NM_000203.5(IDUA):c.520A>T (p.Lys174Ter)
NM_000203.5(IDUA):c.523T>C (p.Trp175Arg) rs875989946
NM_000203.5(IDUA):c.525G>A (p.Trp175Ter) rs776305028
NM_000203.5(IDUA):c.536C>A (p.Thr179Lys)
NM_000203.5(IDUA):c.536C>G (p.Thr179Arg) rs776098539
NM_000203.5(IDUA):c.539G>A (p.Trp180Ter) rs1044231895
NM_000203.5(IDUA):c.540G>C (p.Trp180Cys)
NM_000203.5(IDUA):c.542dup (p.Asn181fs) rs1553917044
NM_000203.5(IDUA):c.543_544inv (p.Glu182Lys)
NM_000203.5(IDUA):c.544G>A (p.Glu182Lys)
NM_000203.5(IDUA):c.548C>G (p.Pro183Arg) rs1238128027
NM_000203.5(IDUA):c.589+1G>T rs1293215555
NM_000203.5(IDUA):c.589G>A (p.Gly197Ser) rs2153021926
NM_000203.5(IDUA):c.590-7G>A rs762411583
NM_000203.5(IDUA):c.606C>G (p.Tyr202Ter) rs1033313360
NM_000203.5(IDUA):c.607G>T (p.Asp203Tyr) rs2153021976
NM_000203.5(IDUA):c.608A>G (p.Asp203Gly) rs2153021978
NM_000203.5(IDUA):c.60_61delinsA (p.Pro22fs) rs1553914762
NM_000203.5(IDUA):c.613T>G (p.Cys205Gly)
NM_000203.5(IDUA):c.615C>A (p.Cys205Ter) rs1715086654
NM_000203.5(IDUA):c.617C>A (p.Ser206Ter)
NM_000203.5(IDUA):c.623G>C (p.Gly208Ala)
NM_000203.5(IDUA):c.655G>A (p.Gly219Arg)
NM_000203.5(IDUA):c.65del (p.Pro22fs) rs1560531755
NM_000203.5(IDUA):c.663del (p.Gly222fs)
NM_000203.5(IDUA):c.675_677delinsT (p.Thr227fs)
NM_000203.5(IDUA):c.713T>C (p.Leu238Pro) rs148789453
NM_000203.5(IDUA):c.718C>T (p.His240Tyr)
NM_000203.5(IDUA):c.751del (p.Glu251fs)
NM_000203.5(IDUA):c.751dup (p.Glu251fs)
NM_000203.5(IDUA):c.820G>T (p.Glu274Ter) rs1553917192
NM_000203.5(IDUA):c.876del (p.Asp292fs) rs1553917209
NM_000203.5(IDUA):c.878_889dup (p.Thr293_Tyr296dup) rs779762183
NM_000203.5(IDUA):c.905C>G (p.Pro302Arg) rs767140903
NM_000203.5(IDUA):c.955G>A (p.Ala319Thr)
NM_000203.5(IDUA):c.956C>A (p.Ala319Glu) rs781534097
NM_000207.3(INS):c.115C>T (p.Leu39Phe) rs2133676660
NM_000207.3(INS):c.125T>C (p.Val42Ala) rs886037863
NM_000207.3(INS):c.26C>G (p.Pro9Arg) rs1564912403
NM_000207.3(INS):c.290C>G (p.Thr97Ser) rs1564911425
NM_000207.3(INS):c.308A>G (p.Tyr103Cys) rs121908277
NM_000208.4(INSR):c.1573C>T (p.Arg525Ter) rs1599937180
NM_000209.4(PDX1):c.188del (p.Pro63fs) rs193929377
NM_000209.4(PDX1):c.217del (p.Leu73fs)
NM_000209.4(PDX1):c.442C>G (p.Arg148Gly) rs193922355
NM_000209.4(PDX1):c.502A>C (p.Asn168His) rs1555241857
NM_000209.4(PDX1):c.571A>C (p.Lys191Gln) rs193922356
NM_000209.4(PDX1):c.671_672dup (p.Gln225fs)
NM_000209.4(PDX1):c.735dup (p.Gly246fs)
NM_000262.3(NAGA):c.16+1G>A
NM_000262.3(NAGA):c.322_324+9del
NM_000262.3(NAGA):c.324+1G>C
NM_000262.3(NAGA):c.598-1G>A
NM_000262.3(NAGA):c.606C>A (p.Tyr202Ter) rs779423223
NM_000262.3(NAGA):c.759+1_759+8del rs768761898
NM_000262.3(NAGA):c.949_957+8del
NM_000263.4(NAGLU):c.1000G>T (p.Val334Phe) rs749140168
NM_000263.4(NAGLU):c.1004A>C (p.Tyr335Ser) rs768918822
NM_000263.4(NAGLU):c.1006G>T (p.Glu336Ter) rs376090795
NM_000263.4(NAGLU):c.103C>T (p.Leu35Phe) rs2143075651
NM_000263.4(NAGLU):c.1063del (p.Gln355fs) rs1180591588
NM_000263.4(NAGLU):c.1082G>T (p.Trp361Leu) rs753454744
NM_000263.4(NAGLU):c.1093C>T (p.Gln365Ter) rs1555622242
NM_000263.4(NAGLU):c.1112del (p.Gly371fs) rs1555622250
NM_000263.4(NAGLU):c.112C>T (p.Arg38Trp)
NM_000263.4(NAGLU):c.1144G>T (p.Asp382Tyr) rs1599260473
NM_000263.4(NAGLU):c.1172A>G (p.Tyr391Cys)
NM_000263.4(NAGLU):c.1207A>T (p.Ile403Phe)
NM_000263.4(NAGLU):c.1224C>A (p.His408Gln)
NM_000263.4(NAGLU):c.1277G>C (p.Gly426Ala) rs771151036
NM_000263.4(NAGLU):c.1313T>G (p.Met438Arg) rs1567893399
NM_000263.4(NAGLU):c.1364A>C (p.Tyr455Ser)
NM_000263.4(NAGLU):c.13_16del (p.Ala5fs) rs1555621402
NM_000263.4(NAGLU):c.1421G>A (p.Trp474Ter) rs1555622351
NM_000263.4(NAGLU):c.1425del (p.Thr476fs) rs1250949842
NM_000263.4(NAGLU):c.1438_1447del (p.Ala480fs) rs1555622354
NM_000263.4(NAGLU):c.1445G>A (p.Arg482Gln) rs200909691
NM_000263.4(NAGLU):c.1463dup (p.Asp489fs) rs1396150639
NM_000263.4(NAGLU):c.1649T>C (p.Leu550Pro)
NM_000263.4(NAGLU):c.1674C>G (p.Tyr558Ter) rs762031686
NM_000263.4(NAGLU):c.1675G>A (p.Asp559Asn) rs767510451
NM_000263.4(NAGLU):c.1681C>G (p.Leu561Val)
NM_000263.4(NAGLU):c.1682T>C (p.Leu561Pro) rs2092928624
NM_000263.4(NAGLU):c.1694G>C (p.Arg565Pro) rs104894598
NM_000263.4(NAGLU):c.1705C>T (p.Gln569Ter) rs1555622441
NM_000263.4(NAGLU):c.1708G>T (p.Glu570Ter) rs1555622443
NM_000263.4(NAGLU):c.1744G>C (p.Ala582Pro) rs144238669
NM_000263.4(NAGLU):c.1810C>T (p.Pro604Ser) rs1347224658
NM_000263.4(NAGLU):c.1863G>A (p.Trp621Ter) rs1555622488
NM_000263.4(NAGLU):c.1893_1903del (p.Glu632fs) rs1555622505
NM_000263.4(NAGLU):c.1915G>T (p.Glu639Ter) rs555145190
NM_000263.4(NAGLU):c.1932C>G (p.Tyr644Ter) rs1555622533
NM_000263.4(NAGLU):c.193del (p.Tyr65fs) rs1555621432
NM_000263.4(NAGLU):c.1946G>C (p.Trp649Ser)
NM_000263.4(NAGLU):c.1978A>G (p.Asn660Asp)
NM_000263.4(NAGLU):c.1995del (p.Leu666fs) rs1555622545
NM_000263.4(NAGLU):c.2021G>T (p.Arg674Leu)
NM_000263.4(NAGLU):c.2044C>G (p.Leu682Val) rs1567894363
NM_000263.4(NAGLU):c.2053_2054del (p.Ser685fs) rs1555622559
NM_000263.4(NAGLU):c.2062C>T (p.Gln688Ter) rs1195831432
NM_000263.4(NAGLU):c.2113G>A (p.Glu705Lys) rs1364203992
NM_000263.4(NAGLU):c.2171_2172del (p.Val724fs) rs2143116788
NM_000263.4(NAGLU):c.219_237del (p.Arg74fs) rs1431589133
NM_000263.4(NAGLU):c.220dup (p.Arg74fs) rs1555621448
NM_000263.4(NAGLU):c.229_236del (p.Val77fs) rs2143076634
NM_000263.4(NAGLU):c.230T>G (p.Val77Gly) rs1599253805
NM_000263.4(NAGLU):c.235G>A (p.Gly79Ser)
NM_000263.4(NAGLU):c.236G>A (p.Gly79Asp)
NM_000263.4(NAGLU):c.291T>G (p.Cys97Trp) rs2092906798
NM_000263.4(NAGLU):c.2T>C (p.Met1Thr) rs1013345784
NM_000263.4(NAGLU):c.309G>A (p.Trp103Ter) rs1567890328
NM_000263.4(NAGLU):c.343C>T (p.Pro115Ser) rs758785463
NM_000263.4(NAGLU):c.344C>T (p.Pro115Leu) rs1379877908
NM_000263.4(NAGLU):c.381C>G (p.Asn127Lys) rs965226394
NM_000263.4(NAGLU):c.384-3C>A rs1216280532
NM_000263.4(NAGLU):c.388C>T (p.Arg130Cys)
NM_000263.4(NAGLU):c.397del (p.Gln133fs)
NM_000263.4(NAGLU):c.418T>C (p.Tyr140His)
NM_000263.4(NAGLU):c.419A>C (p.Tyr140Ser)
NM_000263.4(NAGLU):c.431G>A (p.Trp144Ter)
NM_000263.4(NAGLU):c.434G>A (p.Trp145Ter) rs2092909726
NM_000263.4(NAGLU):c.457G>A (p.Glu153Lys) rs1352416909
NM_000263.4(NAGLU):c.459G>C (p.Glu153Asp) rs746876753
NM_000263.4(NAGLU):c.461T>C (p.Ile154Thr)
NM_000263.4(NAGLU):c.461T>G (p.Ile154Arg) rs770684838
NM_000263.4(NAGLU):c.482G>A (p.Gly161Asp)
NM_000263.4(NAGLU):c.49_73dup (p.Glu25fs) rs2092905845
NM_000263.4(NAGLU):c.4G>T (p.Glu2Ter) rs1555621397
NM_000263.4(NAGLU):c.531+1G>A rs1245939928
NM_000263.4(NAGLU):c.532-1G>A rs2143086378
NM_000263.4(NAGLU):c.532-1G>C rs2143086378
NM_000263.4(NAGLU):c.534_535del (p.Tyr179fs) rs1567891258
NM_000263.4(NAGLU):c.587C>T (p.Pro196Leu) rs1599255987
NM_000263.4(NAGLU):c.629G>A (p.Trp210Ter) rs2092912895
NM_000263.4(NAGLU):c.638C>T (p.Pro213Leu)
NM_000263.4(NAGLU):c.676C>T (p.Gln226Ter)
NM_000263.4(NAGLU):c.680A>C (p.His227Pro) rs747155746
NM_000263.4(NAGLU):c.700C>G (p.Arg234Gly) rs104894601
NM_000263.4(NAGLU):c.701G>T (p.Arg234Leu) rs886042073
NM_000263.4(NAGLU):c.739G>T (p.Gly247Trp)
NM_000263.4(NAGLU):c.764+2T>C
NM_000263.4(NAGLU):c.798_805del (p.Ser267fs) rs1555622000
NM_000263.4(NAGLU):c.809del (p.His270fs) rs1555622002
NM_000263.4(NAGLU):c.82_87delinsTGTATAAGAGACA (p.Glu28fs)
NM_000263.4(NAGLU):c.82del (p.Glu28fs) rs1430122594
NM_000263.4(NAGLU):c.833C>T (p.Ser278Phe)
NM_000263.4(NAGLU):c.838_841del (p.Leu280fs) rs756865833
NM_000263.4(NAGLU):c.867del (p.Ile290fs) rs1555622019
NM_000263.4(NAGLU):c.875G>A (p.Gly292Glu) rs1209988199
NM_000263.4(NAGLU):c.911G>T (p.Gly304Val) rs1599258487
NM_000263.4(NAGLU):c.925T>C (p.Tyr309His) rs2143099180
NM_000263.4(NAGLU):c.926A>T (p.Tyr309Phe) rs1305299665
NM_000263.4(NAGLU):c.934G>C (p.Asp312His)
NM_000263.4(NAGLU):c.935A>C (p.Asp312Ala)
NM_000263.4(NAGLU):c.940T>G (p.Phe314Val) rs104894600
NM_000263.4(NAGLU):c.941T>C (p.Phe314Ser) rs1181487342
NM_000284.4(PDHA1):c.1045G>A (p.Ala349Thr) rs886044701
NM_000284.4(PDHA1):c.1050_1133dup (p.Gln351_Arg378dup) rs1555935486
NM_000284.4(PDHA1):c.1060A>C (p.Thr354Pro) rs1157736285
NM_000284.4(PDHA1):c.1098C>A (p.Tyr366Ter) rs2063246734
NM_000284.4(PDHA1):c.1136G>T (p.Gly379Val) rs2147189334
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000284.4(PDHA1):c.1158_1159insCAGTGGATCAAGTTTA (p.Lys387fs)
NM_000284.4(PDHA1):c.195dup (p.Arg66fs)
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys) rs863224148
NM_000284.4(PDHA1):c.291+1_418+1dup
NM_000284.4(PDHA1):c.300_301dup (p.Cys101fs) rs1569190422
NM_000284.4(PDHA1):c.355C>T (p.Arg119Trp) rs2147176072
NM_000284.4(PDHA1):c.379C>T (p.Arg127Trp) rs199959402
NM_000284.4(PDHA1):c.383G>A (p.Gly128Asp)
NM_000284.4(PDHA1):c.455C>T (p.Ser152Leu) rs1555933954
NM_000284.4(PDHA1):c.461A>G (p.His154Arg) rs1131692230
NM_000284.4(PDHA1):c.465G>T (p.Met155Ile)
NM_000284.4(PDHA1):c.46del (p.Ser16fs) rs2147168716
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser) rs1555933963
NM_000284.4(PDHA1):c.511G>A (p.Val171Met)
NM_000284.4(PDHA1):c.518T>C (p.Leu173Pro)
NM_000284.4(PDHA1):c.536T>G (p.Leu179Arg) rs1555934165
NM_000284.4(PDHA1):c.57+2531T>C rs2063135938
NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu) rs137853254
NM_000284.4(PDHA1):c.624C>A (p.Tyr208Ter) rs2147180742
NM_000284.4(PDHA1):c.640T>G (p.Trp214Gly)
NM_000284.4(PDHA1):c.679T>C (p.Tyr227His) rs2147180839
NM_000284.4(PDHA1):c.685A>T (p.Met229Leu) rs2147180851
NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg) rs1272572107
NM_000284.4(PDHA1):c.692C>T (p.Thr231Met)
NM_000284.4(PDHA1):c.749C>T (p.Pro250Leu) rs1602227679
NM_000284.4(PDHA1):c.766G>A (p.Gly256Arg)
NM_000284.4(PDHA1):c.788G>T (p.Arg263Leu)
NM_000284.4(PDHA1):c.791_792del (p.Glu264fs) rs1569191879
NM_000284.4(PDHA1):c.868C>T (p.His290Tyr) rs2147184502
NM_000284.4(PDHA1):c.896_899delTCAG (p.Ser300fs) rs2147184540
NM_000284.4(PDHA1):c.899+2T>C
NM_000284.4(PDHA1):c.930AAG[3] (p.Arg311_Ser312insArg)
NM_000284.4(PDHA1):c.936_939del (p.Ser312fs) rs863224153
NM_000284.4(PDHA1):c.989C>G (p.Ala330Gly)
NM_000289.6(PFKM):c.-8-2A>G
NM_000289.6(PFKM):c.1062+1G>A
NM_000289.6(PFKM):c.1062+2T>C rs2135957798
NM_000289.6(PFKM):c.1127+1G>T rs2135976459
NM_000289.6(PFKM):c.1128-2A>G
NM_000289.6(PFKM):c.1145G>A (p.Trp382Ter)
NM_000289.6(PFKM):c.115C>T (p.Arg39Ter) rs1064795749
NM_000289.6(PFKM):c.116G>A (p.Arg39Gln)
NM_000289.6(PFKM):c.116G>C (p.Arg39Pro) rs121918193
NM_000289.6(PFKM):c.1192-2A>G
NM_000289.6(PFKM):c.1199C>A (p.Ser400Ter)
NM_000289.6(PFKM):c.1227_1228del (p.Ala410fs)
NM_000289.6(PFKM):c.1280_1290del (p.Leu427fs)
NM_000289.6(PFKM):c.1282dup (p.Ile428fs)
NM_000289.6(PFKM):c.1321G>T (p.Glu441Ter)
NM_000289.6(PFKM):c.1341+1G>A
NM_000289.6(PFKM):c.1341+1G>C
NM_000289.6(PFKM):c.1342-1G>C
NM_000289.6(PFKM):c.1358G>A (p.Trp453Ter)
NM_000289.6(PFKM):c.1385_1386insTCCTGCTATAG (p.Gln462fs)
NM_000289.6(PFKM):c.1412+1G>T
NM_000289.6(PFKM):c.1412+2T>C
NM_000289.6(PFKM):c.1459A>T (p.Lys487Ter)
NM_000289.6(PFKM):c.1493del (p.Gly498fs)
NM_000289.6(PFKM):c.1500+2T>A
NM_000289.6(PFKM):c.1501-2del rs1410122696
NM_000289.6(PFKM):c.159+1G>T rs1305706304
NM_000289.6(PFKM):c.160-1G>C
NM_000289.6(PFKM):c.1607del (p.Gly535_Ser536insTer) rs866260025
NM_000289.6(PFKM):c.1620_1625delinsGGGGG (p.Ala542fs)
NM_000289.6(PFKM):c.1653+2T>G
NM_000289.6(PFKM):c.1717_1718del (p.Met573fs)
NM_000289.6(PFKM):c.1721del (p.Gly574fs)
NM_000289.6(PFKM):c.1734_1735del (p.Tyr579fs)
NM_000289.6(PFKM):c.1772A>C (p.Asp591Ala)
NM_000289.6(PFKM):c.1807C>T (p.Arg603Ter)
NM_000289.6(PFKM):c.184G>T (p.Gly62Ter)
NM_000289.6(PFKM):c.1859_1860del (p.Val620fs)
NM_000289.6(PFKM):c.1876_1877del (p.Leu626fs)
NM_000289.6(PFKM):c.1876_1880+2del
NM_000289.6(PFKM):c.1905T>A (p.Tyr635Ter)
NM_000289.6(PFKM):c.1992+1G>T
NM_000289.6(PFKM):c.2047_2092+14del
NM_000289.6(PFKM):c.204_207delinsTG (p.Thr69fs)
NM_000289.6(PFKM):c.2080_2081del (p.Ser694fs) rs1233958453
NM_000289.6(PFKM):c.2092+2T>C
NM_000289.6(PFKM):c.2175del (p.Glu725fs)
NM_000289.6(PFKM):c.238-3A>G
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter) rs121918195
NM_000289.6(PFKM):c.31dup (p.Thr11fs)
NM_000289.6(PFKM):c.395G>A (p.Trp132Ter)
NM_000289.6(PFKM):c.399_400del (p.Ser133fs)
NM_000289.6(PFKM):c.465_466del (p.Leu156fs)
NM_000289.6(PFKM):c.491_500del (p.Ser164fs)
NM_000289.6(PFKM):c.539C>G (p.Ser180Cys)
NM_000289.6(PFKM):c.582del (p.Thr195fs)
NM_000289.6(PFKM):c.594-1G>A
NM_000289.6(PFKM):c.631dup (p.His211fs)
NM_000289.6(PFKM):c.638+1G>T
NM_000289.6(PFKM):c.702dup (p.Pro235fs)
NM_000289.6(PFKM):c.736C>T (p.Arg246Ter) rs866904446
NM_000289.6(PFKM):c.779_783delinsC (p.Ile260fs)
NM_000289.6(PFKM):c.811G>T (p.Gly271Ter)
NM_000289.6(PFKM):c.851_852del (p.Val284fs)
NM_000289.6(PFKM):c.86-1G>C
NM_000289.6(PFKM):c.867T>A (p.Tyr289Ter)
NM_000289.6(PFKM):c.877dup (p.Val293fs)
NM_000289.6(PFKM):c.936+2T>G
NM_000290.4(PGAM2):c.533del (p.Gly178fs) rs747947171
NM_000291.4(PGK1):c.1114G>A (p.Gly372Ser) rs727504084
NM_000291.4(PGK1):c.150C>G (p.Cys50Trp) rs2149132078
NM_000292.3(PHKA2):c.1042-1G>A rs2048391185
NM_000292.3(PHKA2):c.1137+2T>C rs2147946477
NM_000292.3(PHKA2):c.1245G>T (p.Glu415Asp) rs1601747985
NM_000292.3(PHKA2):c.128G>C (p.Trp43Ser) rs1556016365
NM_000292.3(PHKA2):c.1325-1G>A
NM_000292.3(PHKA2):c.133C>T (p.Arg45Trp) rs1601781031
NM_000292.3(PHKA2):c.134G>A (p.Arg45Gln) rs1601781024
NM_000292.3(PHKA2):c.147C>A (p.Tyr49Ter) rs768063119
NM_000292.3(PHKA2):c.1714+1G>A rs1556002344
NM_000292.3(PHKA2):c.2249G>A (p.Trp750Ter)
NM_000292.3(PHKA2):c.2433dup (p.Gly812fs) rs1555995635
NM_000292.3(PHKA2):c.2518-1G>A rs2047834385
NM_000292.3(PHKA2):c.256C>T (p.Arg86Ter) rs2147991282
NM_000292.3(PHKA2):c.2597+1G>A rs1210626722
NM_000292.3(PHKA2):c.2746C>T (p.Arg916Trp) rs1569297427
NM_000292.3(PHKA2):c.285+2_285+5del rs2048714302
NM_000292.3(PHKA2):c.3112-2A>G
NM_000292.3(PHKA2):c.3210_3212del (p.Arg1072del) rs1555989523
NM_000292.3(PHKA2):c.3283-1G>C rs2047516641
NM_000292.3(PHKA2):c.3336+1dup rs2047514376
NM_000292.3(PHKA2):c.3336+2T>A rs1555988479
NM_000292.3(PHKA2):c.3341C>T (p.Thr1114Ile) rs137852293
NM_000292.3(PHKA2):c.3383T>C (p.Leu1128Pro) rs797044921
NM_000292.3(PHKA2):c.3629G>A (p.Gly1210Glu) rs1601685358
NM_000292.3(PHKA2):c.3644_3646dup (p.Leu1215_Thr1216insIle) rs2047467477
NM_000292.3(PHKA2):c.3645_3646dup (p.Thr1216fs) rs2147799052
NM_000292.3(PHKA2):c.405_419delinsTCCTGGCC (p.Asp136fs) rs1601776276
NM_000292.3(PHKA2):c.415T>C (p.Ser139Pro) rs1556014969
NM_000292.3(PHKA2):c.556C>T (p.Arg186Cys) rs137852294
NM_000292.3(PHKA2):c.557G>C (p.Arg186Pro) rs137852290
NM_000292.3(PHKA2):c.559G>A (p.Gly187Arg) rs2147972085
NM_000292.3(PHKA2):c.565A>G (p.Lys189Glu) rs137852295
NM_000292.3(PHKA2):c.717+1G>A
NM_000292.3(PHKA2):c.884G>A (p.Arg295His) rs797044877
NM_000292.3(PHKA2):c.884G>T (p.Arg295Leu) rs797044877
NM_000292.3(PHKA2):c.892C>T (p.Arg298Ter)
NM_000292.3(PHKA2):c.919-1G>A rs2147954328
NM_000292.3(PHKA2):c.919-2A>G rs2147954334
NM_000293.3(PHKB):c.1126+1G>T
NM_000293.3(PHKB):c.1126+2T>C
NM_000293.3(PHKB):c.1204+1G>T
NM_000293.3(PHKB):c.1364-1G>A
NM_000293.3(PHKB):c.1609-2A>C
NM_000293.3(PHKB):c.1693-2A>G
NM_000293.3(PHKB):c.1797+1G>A
NM_000293.3(PHKB):c.1797+1G>C rs777714363
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter) rs34667348
NM_000293.3(PHKB):c.2273del (p.Lys758fs) rs2151737344
NM_000293.3(PHKB):c.2278+1G>A
NM_000293.3(PHKB):c.2329_2336+5del
NM_000293.3(PHKB):c.2427+1052_2427+1083del
NM_000293.3(PHKB):c.2427+1G>A
NM_000293.3(PHKB):c.2895+1G>A
NM_000293.3(PHKB):c.3003+2T>C
NM_000293.3(PHKB):c.3004-2A>G
NM_000293.3(PHKB):c.305+2T>C
NM_000293.3(PHKB):c.405+1G>T
NM_000293.3(PHKB):c.513+2T>A
NM_000293.3(PHKB):c.595-1G>A rs2151672494
NM_000293.3(PHKB):c.710+1G>T
NM_000293.3(PHKB):c.77-1G>A
NM_000293.3(PHKB):c.775-1G>A
NM_000293.3(PHKB):c.928G>T (p.Glu310Ter)
NM_000293.3(PHKB):c.951dup (p.Asp318Ter)
NM_000294.3(PHKG2):c.1070T>C (p.Leu357Pro) rs762089284
NM_000294.3(PHKG2):c.229G>A (p.Glu77Lys) rs2053339231
NM_000294.3(PHKG2):c.392+2T>G
NM_000294.3(PHKG2):c.393-2A>G
NM_000294.3(PHKG2):c.454C>T (p.Arg152Ter) rs772912966
NM_000294.3(PHKG2):c.661G>A (p.Val221Met) rs1596687577
NM_000298.6(PKLR):c.1015G>A (p.Asp339Asn) rs747097960
NM_000298.6(PKLR):c.1022G>C (p.Gly341Ala)
NM_000298.6(PKLR):c.1067T>G (p.Met356Arg) rs752423472
NM_000298.6(PKLR):c.1076G>C (p.Arg359Pro)
NM_000298.6(PKLR):c.1373G>A (p.Gly458Asp) rs755522396
NM_000298.6(PKLR):c.1511G>A (p.Arg504His) rs185753709
NM_000298.6(PKLR):c.1511G>T (p.Arg504Leu)
NM_000298.6(PKLR):c.1591C>A (p.Arg531Ser) rs1674554041
NM_000298.6(PKLR):c.224T>C (p.Leu75Pro) rs2148218886
NM_000298.6(PKLR):c.391_393del (p.Ile131del) rs886045351
NM_000298.6(PKLR):c.754G>A (p.Val252Met)
NM_000298.6(PKLR):c.823G>C (p.Gly275Arg)
NM_000298.6(PKLR):c.829G>T (p.Glu277Ter)
NM_000308.4(CTSA):c.1088+1G>A
NM_000308.4(CTSA):c.112del (p.Leu38fs) rs1241378191
NM_000308.4(CTSA):c.1255-1G>A
NM_000308.4(CTSA):c.306+2T>A
NM_000308.4(CTSA):c.358-2A>G
NM_000308.4(CTSA):c.445-18_447del rs1987030082
NM_000308.4(CTSA):c.445-1G>C
NM_000308.4(CTSA):c.521T>C (p.Leu174Pro) rs2145815915
NM_000308.4(CTSA):c.601-2A>C
NM_000308.4(CTSA):c.948+13_954delinsAGA
NM_000340.2(SLC2A2):c.1246G>A (p.Gly416Ser) rs1553785033
NM_000340.2(SLC2A2):c.1356dup (p.Cys453fs) rs1350704340
NM_000340.2(SLC2A2):c.156_181dup (p.Ile61fs) rs1447936042
NM_000340.2(SLC2A2):c.469G>C (p.Gly157Arg) rs750836049
NM_000340.2(SLC2A2):c.496+2T>A
NM_000340.2(SLC2A2):c.589G>C (p.Val197Leu) rs121909741
NM_000340.2(SLC2A2):c.59G>A (p.Gly20Asp)
NM_000340.2(SLC2A2):c.613-7T>G rs2108244550
NM_000343.4(SLC5A1):c.1006C>T (p.Arg336Cys) rs768831308
NM_000343.4(SLC5A1):c.1021+1G>A rs2149492476
NM_000343.4(SLC5A1):c.1496G>A (p.Arg499His)
NM_000343.4(SLC5A1):c.226del (p.Ala76fs) rs2149487756
NM_000343.4(SLC5A1):c.372+1_372+2insCTTATAT rs764766115
NM_000343.4(SLC5A1):c.665-2A>G
NM_000352.6(ABCC8):c.1012-2A>G rs1554938866
NM_000352.6(ABCC8):c.1040C>G (p.Ser347Ter)
NM_000352.6(ABCC8):c.1073T>A (p.Leu358Ter)
NM_000352.6(ABCC8):c.11C>T (p.Ala4Val) rs2133738359
NM_000352.6(ABCC8):c.1209del (p.Thr404fs)
NM_000352.6(ABCC8):c.1243G>A (p.Gly415Arg) rs1564955779
NM_000352.6(ABCC8):c.1290G>A (p.Trp430Ter)
NM_000352.6(ABCC8):c.1333-1013A>G rs980458021
NM_000352.6(ABCC8):c.1347_1348del (p.Ile450fs) rs1554933565
NM_000352.6(ABCC8):c.1467+1G>T rs1554933415
NM_000352.6(ABCC8):c.1467+2T>C rs1057517128
NM_000352.6(ABCC8):c.1468-2A>C rs1057516946
NM_000352.6(ABCC8):c.148+2T>G rs1554949176
NM_000352.6(ABCC8):c.149-1G>A rs1554948445
NM_000352.6(ABCC8):c.1536C>G (p.Tyr512Ter) rs765090096
NM_000352.6(ABCC8):c.1603_1604insA (p.Ala535fs) rs1057516665
NM_000352.6(ABCC8):c.1616A>G (p.Tyr539Cys) rs193922397
NM_000352.6(ABCC8):c.1630+1G>A
NM_000352.6(ABCC8):c.1647del (p.Ile550fs) rs2133554613
NM_000352.6(ABCC8):c.1817+1G>T rs1554926476
NM_000352.6(ABCC8):c.1817+2T>C
NM_000352.6(ABCC8):c.1817+2_1817+6del rs1554926465
NM_000352.6(ABCC8):c.1858del (p.Arg620fs)
NM_000352.6(ABCC8):c.1879del (p.His627fs) rs764613146
NM_000352.6(ABCC8):c.1895_1913delinsTT (p.Gln632fs)
NM_000352.6(ABCC8):c.1945A>T (p.Lys649Ter)
NM_000352.6(ABCC8):c.1973del (p.Gly658fs)
NM_000352.6(ABCC8):c.19G>C (p.Gly7Arg)
NM_000352.6(ABCC8):c.1del (p.Met1fs) rs2133738442
NM_000352.6(ABCC8):c.2041-1G>A rs1554924630
NM_000352.6(ABCC8):c.206del (p.Pro69fs)
NM_000352.6(ABCC8):c.2070del (p.Asp691fs)
NM_000352.6(ABCC8):c.2098_2099del (p.Thr700fs) rs1057516542
NM_000352.6(ABCC8):c.2116+1G>A rs1554924540
NM_000352.6(ABCC8):c.2116+1G>T rs1554924540
NM_000352.6(ABCC8):c.2124_2127del (p.Leu708_Thr709insTer) rs786204717
NM_000352.6(ABCC8):c.2143G>A (p.Val715Met) rs1554924142
NM_000352.6(ABCC8):c.2169_2171del (p.Leu724del) rs760520781
NM_000352.6(ABCC8):c.2171T>C (p.Leu724Pro) rs1402090677
NM_000352.6(ABCC8):c.2222+1G>A rs1554923999
NM_000352.6(ABCC8):c.2222+1G>T rs1554923999
NM_000352.6(ABCC8):c.2255+2T>C rs1057516589
NM_000352.6(ABCC8):c.2318C>A (p.Ser773Ter)
NM_000352.6(ABCC8):c.239T>G (p.Met80Arg) rs797045208
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln) rs547150342
NM_000352.6(ABCC8):c.267del (p.Ile89fs) rs2133728449
NM_000352.6(ABCC8):c.2683dup (p.His895fs) rs1057517019
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter) rs1382448285
NM_000352.6(ABCC8):c.2694+1G>C rs774574576
NM_000352.6(ABCC8):c.2835_2838del (p.Arg946fs) rs1554913069
NM_000352.6(ABCC8):c.290+2T>C rs1554948310
NM_000352.6(ABCC8):c.291-2A>G rs786204695
NM_000352.6(ABCC8):c.3000C>A (p.Cys1000Ter) rs192863214
NM_000352.6(ABCC8):c.3108G>A (p.Trp1036Ter) rs1057516585
NM_000352.6(ABCC8):c.3124_3126delinsCAGCCAGGAACTG (p.Thr1042fs) rs786204542
NM_000352.6(ABCC8):c.3126_3129delinsTC (p.Leu1043fs)
NM_000352.6(ABCC8):c.3130_3149del (p.Thr1044fs) rs886041392
NM_000352.6(ABCC8):c.3151_3162+15del rs1554912381
NM_000352.6(ABCC8):c.3264_3265insTTTTATAGAT (p.Gly1089fs)
NM_000352.6(ABCC8):c.3269_3270del (p.Leu1090fs)
NM_000352.6(ABCC8):c.326del (p.Pro109fs)
NM_000352.6(ABCC8):c.3346C>G (p.Pro1116Ala) rs1564890766
NM_000352.6(ABCC8):c.3351dup (p.Gly1118fs)
NM_000352.6(ABCC8):c.338C>T (p.Ala113Val) rs2133711315
NM_000352.6(ABCC8):c.3399+1G>A rs1554911369
NM_000352.6(ABCC8):c.3400-1G>A rs576684889
NM_000352.6(ABCC8):c.3440T>G (p.Leu1147Arg)
NM_000352.6(ABCC8):c.3447T>A (p.Cys1149Ter)
NM_000352.6(ABCC8):c.3448_3449del (p.Val1150fs) rs1263082097
NM_000352.6(ABCC8):c.3454del (p.Ala1152fs)
NM_000352.6(ABCC8):c.3508_3509insA (p.Leu1170fs)
NM_000352.6(ABCC8):c.3525C>G (p.Tyr1175Ter) rs1057516439
NM_000352.6(ABCC8):c.3551C>A (p.Ala1184Glu)
NM_000352.6(ABCC8):c.3553_3557dup (p.Arg1186fs) rs1554910621
NM_000352.6(ABCC8):c.3557+1G>A rs1554910610
NM_000352.6(ABCC8):c.3557+1G>T rs1554910610
NM_000352.6(ABCC8):c.3557+1del rs1554910616
NM_000352.6(ABCC8):c.3574del (p.Asp1192fs) rs1057516317
NM_000352.6(ABCC8):c.3650+2T>A rs1057517274
NM_000352.6(ABCC8):c.3673_3676del (p.Lys1225fs)
NM_000352.6(ABCC8):c.369_370dup (p.Tyr124fs) rs1554946437
NM_000352.6(ABCC8):c.3733A>T (p.Arg1245Ter)
NM_000352.6(ABCC8):c.3753+1G>A rs1554906786
NM_000352.6(ABCC8):c.3753+1G>T
NM_000352.6(ABCC8):c.3754-1G>A rs1554906449
NM_000352.6(ABCC8):c.3754-2A>G rs1554906450
NM_000352.6(ABCC8):c.3842del (p.Gly1281fs)
NM_000352.6(ABCC8):c.3881_3882del (p.Leu1294fs)
NM_000352.6(ABCC8):c.3919C>T (p.Gln1307Ter)
NM_000352.6(ABCC8):c.3921del (p.Gln1307fs)
NM_000352.6(ABCC8):c.3958del (p.Thr1320fs)
NM_000352.6(ABCC8):c.3995C>A (p.Ser1332Ter)
NM_000352.6(ABCC8):c.4021C>T (p.Gln1341Ter) rs1057516718
NM_000352.6(ABCC8):c.4026_4027insC (p.Lys1343fs) rs1554905787
NM_000352.6(ABCC8):c.4055G>C (p.Arg1352Pro) rs28936370
NM_000352.6(ABCC8):c.4072_4073delinsT (p.Lys1358fs) rs1057516890
NM_000352.6(ABCC8):c.4109C>T (p.Pro1370Leu) rs1554905662
NM_000352.6(ABCC8):c.4119+1G>A rs797045211
NM_000352.6(ABCC8):c.4119+1del rs1057517050
NM_000352.6(ABCC8):c.4120-1G>T rs1057517406
NM_000352.6(ABCC8):c.413-2A>G rs1057517015
NM_000352.6(ABCC8):c.4146T>G (p.Ser1382Arg) rs886039877
NM_000352.6(ABCC8):c.4153T>C (p.Ser1385Pro) rs2133402479
NM_000352.6(ABCC8):c.415del (p.Leu139fs) rs1057516591
NM_000352.6(ABCC8):c.4168G>C (p.Ala1390Pro)
NM_000352.6(ABCC8):c.4220_4221insACAGG (p.Asp1408fs)
NM_000352.6(ABCC8):c.4253G>A (p.Arg1418His) rs1446306735
NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys) rs28938469
NM_000352.6(ABCC8):c.4259G>A (p.Arg1420His)
NM_000352.6(ABCC8):c.4265C>G (p.Ser1422Cys) rs1554904936
NM_000352.6(ABCC8):c.4275_4291del (p.Asp1427fs) rs1554904904
NM_000352.6(ABCC8):c.4288del (p.Leu1430fs) rs2133400786
NM_000352.6(ABCC8):c.4322del (p.Pro1441fs) rs758844607
NM_000352.6(ABCC8):c.4340_4362del (p.Asp1447fs) rs1554904554
NM_000352.6(ABCC8):c.4353G>A (p.Trp1451Ter) rs1057516404
NM_000352.6(ABCC8):c.4383_4384dup (p.Val1462fs)
NM_000352.6(ABCC8):c.4412-13G>A rs1008906426
NM_000352.6(ABCC8):c.4412-2A>G rs1554904136
NM_000352.6(ABCC8):c.4438A>G (p.Asn1480Asp) rs1591705863
NM_000352.6(ABCC8):c.4451G>A (p.Gly1484Glu) rs193922405
NM_000352.6(ABCC8):c.4451G>T (p.Gly1484Val) rs193922405
NM_000352.6(ABCC8):c.4474del (p.Ala1492fs) rs1057516655
NM_000352.6(ABCC8):c.4516_4536dup (p.Glu1506_Asp1512dup) rs797045212
NM_000352.6(ABCC8):c.4532T>C (p.Ile1511Thr)
NM_000352.6(ABCC8):c.4545+2T>G rs1554904006
NM_000352.6(ABCC8):c.45C>G (p.Tyr15Ter) rs758231286
NM_000352.6(ABCC8):c.4612C>T (p.Arg1538Ter) rs1411638309
NM_000352.6(ABCC8):c.4615G>A (p.Val1539Met) rs193922408
NM_000352.6(ABCC8):c.4685del (p.Pro1562fs) rs1554903370
NM_000352.6(ABCC8):c.480_481insAGATGTGTATAAGAGACAG (p.Ala161delinsArgCysValTer)
NM_000352.6(ABCC8):c.526dup (p.Val176fs) rs1847952281
NM_000352.6(ABCC8):c.536_539del (p.Leu178_Tyr179insTer) rs770664202
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser) rs797045213
NM_000352.6(ABCC8):c.579+2T>A rs1449198328
NM_000352.6(ABCC8):c.580-2A>G
NM_000352.6(ABCC8):c.61del (p.Val21fs) rs2133737961
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp) rs863225280
NM_000352.6(ABCC8):c.692G>A (p.Trp231Ter) rs1057517139
NM_000352.6(ABCC8):c.698_699del (p.Met233fs)
NM_000352.6(ABCC8):c.707_708del (p.Phe236fs)
NM_000352.6(ABCC8):c.752_753del (p.Gly251fs)
NM_000352.6(ABCC8):c.771_772insGAAACCCA (p.Arg258fs)
NM_000352.6(ABCC8):c.795dup (p.Leu266fs) rs1057516654
NM_000352.6(ABCC8):c.805del (p.Ala269fs) rs1564976749
NM_000352.6(ABCC8):c.823-1G>A rs1247430874
NM_000352.6(ABCC8):c.966del (p.Ile323fs)
NM_000352.6(ABCC8):c.992_993delinsTCTT (p.Asn331fs)
NM_000365.6(TPI1):c.544-1G>C rs2138094606
NM_000402.4(G6PD):c.1054T>C (p.Tyr352His) rs137852347
NM_000402.4(G6PD):c.1172C>T (p.Ala391Val) rs137852345
NM_000402.4(G6PD):c.1179C>A (p.Asn393Lys) rs137852329
NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu) rs137852320
NM_000402.4(G6PD):c.1270G>C (p.Val424Leu) rs137852335
NM_000402.4(G6PD):c.1318G>T (p.Gly440Cys) rs137852323
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro) rs137852337
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg) rs137852317
NM_000402.4(G6PD):c.1490C>G (p.Pro497Arg) rs137852344
NM_000402.4(G6PD):c.1532C>G (p.Pro511Arg) rs137852348
NM_000402.4(G6PD):c.482G>T (p.Gly161Val) rs137852341
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000402.4(G6PD):c.683G>C (p.Arg228Pro) rs137852332
NM_000402.4(G6PD):c.727G>T (p.Val243Leu) rs137852326
NM_000402.4(G6PD):c.738T>G (p.Phe246Leu) rs137852319
NM_000402.4(G6PD):c.7C>T (p.Arg3Trp)
NM_000402.4(G6PD):c.896G>A (p.Cys299Tyr) rs137852346
NM_000404.4(GLB1):c.1009C>G (p.Leu337Val) rs376034559
NM_000404.4(GLB1):c.1038G>C (p.Lys346Asn) rs749980306
NM_000404.4(GLB1):c.1060A>G (p.Ile354Val)
NM_000404.4(GLB1):c.1144-2A>G rs1553607014
NM_000404.4(GLB1):c.1174_1175del (p.Leu392fs) rs398123348
NM_000404.4(GLB1):c.1188_1189delinsCT (p.Pro397Ser)
NM_000404.4(GLB1):c.1233+1G>A rs1553606984
NM_000404.4(GLB1):c.1234-1G>T
NM_000404.4(GLB1):c.1256G>C (p.Arg419Pro)
NM_000404.4(GLB1):c.1258A>G (p.Thr420Ala) rs200181401
NM_000404.4(GLB1):c.1347+1G>T
NM_000404.4(GLB1):c.1452C>G (p.Asn484Lys) rs968221254
NM_000404.4(GLB1):c.1456_1466dup (p.Ile489fs) rs398123349
NM_000404.4(GLB1):c.1468_1470del (p.Asn490del) rs1215113920
NM_000404.4(GLB1):c.1479G>T (p.Lys493Asn) rs1172435886
NM_000404.4(GLB1):c.148T>C (p.Tyr50His)
NM_000404.4(GLB1):c.1498A>T (p.Thr500Ser)
NM_000404.4(GLB1):c.1500_1503del (p.Leu501fs) rs1553606130
NM_000404.4(GLB1):c.1510_1511insGA (p.Asn504fs) rs1553606128
NM_000404.4(GLB1):c.151A>C (p.Ile51Leu)
NM_000404.4(GLB1):c.1609G>T (p.Glu537Ter) rs1553606091
NM_000404.4(GLB1):c.160A>G (p.Ser54Gly)
NM_000404.4(GLB1):c.1634dup (p.Asn545fs) rs754131566
NM_000404.4(GLB1):c.1645C>T (p.Pro549Ser) rs2125463133
NM_000404.4(GLB1):c.1660G>A (p.Gly554Arg)
NM_000404.4(GLB1):c.1667T>C (p.Phe556Ser)
NM_000404.4(GLB1):c.1685dup (p.Asp564fs) rs1697138071
NM_000404.4(GLB1):c.1714C>T (p.Gln572Ter) rs1803200
NM_000404.4(GLB1):c.171C>G (p.Tyr57Ter) rs398123350
NM_000404.4(GLB1):c.1739A>G (p.Gln580Arg) rs2125442981
NM_000404.4(GLB1):c.1742T>G (p.Val581Gly)
NM_000404.4(GLB1):c.1768C>A (p.Arg590Ser) rs794727165
NM_000404.4(GLB1):c.1768C>G (p.Arg590Gly)
NM_000404.4(GLB1):c.176G>T (p.Arg59Leu) rs72555392
NM_000404.4(GLB1):c.1771T>C (p.Tyr591His)
NM_000404.4(GLB1):c.1772A>C (p.Tyr591Ser) rs72555371
NM_000404.4(GLB1):c.191A>G (p.Tyr64Cys) rs759483184
NM_000404.4(GLB1):c.2009_2010del (p.Lys670fs)
NM_000404.4(GLB1):c.202C>G (p.Arg68Gly) rs72555370
NM_000404.4(GLB1):c.203G>T (p.Arg68Leu) rs572237881
NM_000404.4(GLB1):c.245+1G>C rs778423653
NM_000404.4(GLB1):c.253C>T (p.Pro85Ser)
NM_000404.4(GLB1):c.302del (p.Asp101fs) rs1553612213
NM_000404.4(GLB1):c.319T>C (p.Phe107Leu) rs397515616
NM_000404.4(GLB1):c.395T>C (p.Met132Thr) rs1553612189
NM_000404.4(GLB1):c.396+2T>C rs1057517738
NM_000404.4(GLB1):c.425_426del (p.Lys142fs) rs1553612150
NM_000404.4(GLB1):c.433_437del (p.Ile145fs) rs1553612145
NM_000404.4(GLB1):c.435TCT[1] (p.Leu147del) rs751033858
NM_000404.4(GLB1):c.439C>T (p.Leu147Phe) rs1553612143
NM_000404.4(GLB1):c.442C>A (p.Arg148Ser) rs192732174
NM_000404.4(GLB1):c.442C>T (p.Arg148Cys) rs192732174
NM_000404.4(GLB1):c.443G>T (p.Arg148Leu)
NM_000404.4(GLB1):c.457+2T>C rs398123354
NM_000404.4(GLB1):c.517C>T (p.Leu173Phe)
NM_000404.4(GLB1):c.520T>G (p.Tyr174Asp)
NM_000404.4(GLB1):c.521A>C (p.Tyr174Ser) rs2125543580
NM_000404.4(GLB1):c.523C>T (p.Gln175Ter) rs1553611789
NM_000404.4(GLB1):c.552+2T>C rs1553611778
NM_000404.4(GLB1):c.572G>C (p.Ser191Thr)
NM_000404.4(GLB1):c.572G>T (p.Ser191Ile)
NM_000404.4(GLB1):c.626del (p.His209fs) rs1553611044
NM_000404.4(GLB1):c.645_648del (p.Val216fs) rs1553611040
NM_000404.4(GLB1):c.65_75+1del rs1382394474
NM_000404.4(GLB1):c.694dup (p.Ala232fs) rs1553611025
NM_000404.4(GLB1):c.733+1G>A rs1041204916
NM_000404.4(GLB1):c.733+2T>C rs1699291583
NM_000404.4(GLB1):c.733+2_733+4del rs1553611016
NM_000404.4(GLB1):c.76-1G>T
NM_000404.4(GLB1):c.765G>C (p.Gln255His) rs1553610553
NM_000404.4(GLB1):c.765G>T (p.Gln255His)
NM_000404.4(GLB1):c.769_792+13del rs1282958432
NM_000404.4(GLB1):c.817_818delinsCT (p.Trp273Leu) rs1559401428
NM_000404.4(GLB1):c.827A>C (p.His276Pro) rs1559401406
NM_000404.4(GLB1):c.842A>G (p.His281Arg)
NM_000404.4(GLB1):c.915-1G>T rs749020375
NM_000404.4(GLB1):c.915-2A>G
NM_000404.4(GLB1):c.932G>A (p.Gly311Glu)
NM_000404.4(GLB1):c.937A>G (p.Asn313Asp)
NM_000404.4(GLB1):c.947A>G (p.Tyr316Cys) rs72555361
NM_000404.4(GLB1):c.955+2T>G rs746883447
NM_000404.4(GLB1):c.971A>C (p.Tyr324Ser)
NM_000404.4(GLB1):c.971A>G (p.Tyr324Cys) rs977975596
NM_000404.4(GLB1):c.998A>G (p.Tyr333Cys) rs370107958
NM_000411.8(HLCS):c.1681dup
NM_000434.4(NEU1):c.1004C>A (p.Pro335Gln)
NM_000434.4(NEU1):c.1021C>G (p.Arg341Gly)
NM_000434.4(NEU1):c.1021C>T (p.Arg341Ter) rs751458617
NM_000434.4(NEU1):c.163C>T (p.Gln55Ter)
NM_000434.4(NEU1):c.887A>G (p.Tyr296Cys) rs2151544199
NM_000434.4(NEU1):c.947del (p.Pro316fs) rs2151544098
NM_000434.4(NEU1):c.[353-11A>G];[541T>C]
NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr)
NM_000458.4(HNF1B):c.1006dup (p.His336fs) rs1598840795
NM_000458.4(HNF1B):c.1007A>G (p.His336Arg)
NM_000458.4(HNF1B):c.1009dup (p.His337fs) rs1598840773
NM_000458.4(HNF1B):c.1024T>C (p.Ser342Pro)
NM_000458.4(HNF1B):c.1055A>G (p.Tyr352Cys)
NM_000458.4(HNF1B):c.110dup (p.Asn38fs) rs1598854747
NM_000458.4(HNF1B):c.1130_1131del (p.Ser377fs) rs2147473703
NM_000458.4(HNF1B):c.121del (p.Gly40_Val41insTer) rs1555833144
NM_000458.4(HNF1B):c.1235dup (p.Val413fs) rs1598809747
NM_000458.4(HNF1B):c.1253A>C (p.Asn418Thr)
NM_000458.4(HNF1B):c.1253A>T (p.Asn418Ile)
NM_000458.4(HNF1B):c.1258dup (p.His420fs) rs1598809697
NM_000458.4(HNF1B):c.1282C>T (p.Gln428Ter) rs2032692897
NM_000458.4(HNF1B):c.1310C>T (p.Pro437Leu)
NM_000458.4(HNF1B):c.1325T>C (p.Met442Thr)
NM_000458.4(HNF1B):c.1340-3C>G rs2032559501
NM_000458.4(HNF1B):c.1351T>A (p.Ser451Thr)
NM_000458.4(HNF1B):c.1406_1413dup (p.Val472fs) rs1598806177
NM_000458.4(HNF1B):c.1484T>A (p.Met495Lys)
NM_000458.4(HNF1B):c.1504G>A (p.Ala502Thr)
NM_000458.4(HNF1B):c.1538A>G (p.Tyr513Cys)
NM_000458.4(HNF1B):c.1640C>T (p.Ser547Phe)
NM_000458.4(HNF1B):c.215del (p.Gly72fs)
NM_000458.4(HNF1B):c.221T>A (p.Leu74Ter)
NM_000458.4(HNF1B):c.234G>C (p.Glu78Asp)
NM_000458.4(HNF1B):c.248G>A (p.Gly83Asp)
NM_000458.4(HNF1B):c.274C>T (p.Leu92Phe)
NM_000458.4(HNF1B):c.329T>G (p.Val110Gly)
NM_000458.4(HNF1B):c.344G>A (p.Ser115Asn)
NM_000458.4(HNF1B):c.345-1G>T
NM_000458.4(HNF1B):c.345-2A>G
NM_000458.4(HNF1B):c.34C>T (p.Leu12Phe)
NM_000458.4(HNF1B):c.372G>T (p.Met124Ile)
NM_000458.4(HNF1B):c.395A>C (p.His132Pro)
NM_000458.4(HNF1B):c.406dup (p.Gln136fs) rs886041820
NM_000458.4(HNF1B):c.434T>A (p.Leu145Gln)
NM_000458.4(HNF1B):c.436A>G (p.Asn146Asp)
NM_000458.4(HNF1B):c.437A>C (p.Asn146Thr)
NM_000458.4(HNF1B):c.443C>A (p.Ser148Ter)
NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu)
NM_000458.4(HNF1B):c.451T>C (p.Ser151Pro)
NM_000458.4(HNF1B):c.452C>G (p.Ser151Cys)
NM_000458.4(HNF1B):c.460C>T (p.Leu154Phe)
NM_000458.4(HNF1B):c.476C>T (p.Pro159Leu)
NM_000458.4(HNF1B):c.477del (p.Pro159_Met160insTer)
NM_000458.4(HNF1B):c.479T>C (p.Met160Thr)
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
NM_000458.4(HNF1B):c.494G>C (p.Arg165Pro)
NM_000458.4(HNF1B):c.511T>C (p.Trp171Arg)
NM_000458.4(HNF1B):c.513G>C (p.Trp171Cys)
NM_000458.4(HNF1B):c.517G>A (p.Val173Ile)
NM_000458.4(HNF1B):c.517G>C (p.Val173Leu)
NM_000458.4(HNF1B):c.526C>T (p.Gln176Ter)
NM_000458.4(HNF1B):c.544+3_544+4insT
NM_000458.4(HNF1B):c.544+3_544+6del
NM_000458.4(HNF1B):c.61dup (p.Val21fs) rs2034124973
NM_000458.4(HNF1B):c.634C>T (p.Gln212Ter) rs2147553451
NM_000458.4(HNF1B):c.698G>A (p.Arg233His)
NM_000458.4(HNF1B):c.703C>T (p.Arg235Trp)
NM_000458.4(HNF1B):c.704G>A (p.Arg235Gln)
NM_000458.4(HNF1B):c.712T>C (p.Trp238Arg)
NM_000458.4(HNF1B):c.719_720dup (p.Ala241fs) rs1598842886
NM_000458.4(HNF1B):c.728A>C (p.Gln243Pro)
NM_000458.4(HNF1B):c.737T>C (p.Leu246Ser)
NM_000458.4(HNF1B):c.755G>C (p.Arg252Pro)
NM_000458.4(HNF1B):c.758A>C (p.Gln253Pro)
NM_000458.4(HNF1B):c.766C>T (p.Pro256Ser)
NM_000458.4(HNF1B):c.781A>G (p.Arg261Gly)
NM_000458.4(HNF1B):c.791T>C (p.Leu264Ser)
NM_000458.4(HNF1B):c.818G>A (p.Cys273Tyr)
NM_000458.4(HNF1B):c.818G>C (p.Cys273Ser)
NM_000458.4(HNF1B):c.826C>G (p.Arg276Gly)
NM_000458.4(HNF1B):c.840dup (p.Ser281fs) rs1598841082
NM_000458.4(HNF1B):c.853G>A (p.Gly285Ser)
NM_000458.4(HNF1B):c.856C>G (p.Leu286Val)
NM_000458.4(HNF1B):c.857T>C (p.Leu286Pro) rs2147545592
NM_000458.4(HNF1B):c.860G>T (p.Gly287Val)
NM_000458.4(HNF1B):c.865A>G (p.Asn289Asp)
NM_000458.4(HNF1B):c.884G>A (p.Arg295His)
NM_000458.4(HNF1B):c.884G>C (p.Arg295Pro)
NM_000458.4(HNF1B):c.886G>T (p.Val296Phe)
NM_000458.4(HNF1B):c.895T>G (p.Trp299Gly)
NM_000458.4(HNF1B):c.896G>A (p.Trp299Ter) rs1598840996
NM_000458.4(HNF1B):c.904A>G (p.Asn302Asp)
NM_000458.4(HNF1B):c.906C>A (p.Asn302Lys)
NM_000458.4(HNF1B):c.910A>G (p.Arg304Gly) rs2033692285
NM_000458.4(HNF1B):c.935dup (p.Leu313fs)
NM_000458.4(HNF1B):c.940G>A (p.Ala314Thr)
NM_000458.4(HNF1B):c.949G>T (p.Ala317Ser)
NM_000458.4(HNF1B):c.962A>G (p.Asn321Ser)
NM_000507.4(FBP1):c.170+4A>G
NM_000507.4(FBP1):c.349T>C (p.Cys117Arg) rs1563983269
NM_000507.4(FBP1):c.426+1G>T rs1563983184
NM_000507.4(FBP1):c.427-2A>G
NM_000507.4(FBP1):c.611_614del (p.Lys204fs) rs761470205
NM_000507.4(FBP1):c.639C>A (p.Asn213Lys)
NM_000507.4(FBP1):c.704del (p.Pro235fs) rs774362519
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys) rs566453434
NM_000507.4(FBP1):c.881G>T (p.Gly294Val)
NM_000507.4(FBP1):c.986T>C (p.Leu329Pro) rs1248299502
NM_000512.5(GALNS):c.1003-1570G>T rs2142996885
NM_000512.5(GALNS):c.1003-2A>C rs1344555845
NM_000512.5(GALNS):c.1009del (p.His337fs) rs2142995881
NM_000512.5(GALNS):c.1018G>A (p.Gly340Ser)
NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp) rs267606838
NM_000512.5(GALNS):c.1021A>C (p.Ser341Arg)
NM_000512.5(GALNS):c.1023C>G (p.Ser341Arg) rs2142995871
NM_000512.5(GALNS):c.1046del (p.Ser349fs) rs2142995845
NM_000512.5(GALNS):c.1049T>C (p.Leu350Pro) rs1910973930
NM_000512.5(GALNS):c.1070del (p.Pro357fs) rs2142995810
NM_000512.5(GALNS):c.1142C>G (p.Pro381Arg) rs2142993896
NM_000512.5(GALNS):c.1155C>A (p.Tyr385Ter) rs1426905479
NM_000512.5(GALNS):c.116A>G (p.Asp39Gly) rs1967935882
NM_000512.5(GALNS):c.1173GGC[1] (p.Ala393del) rs1567519221
NM_000512.5(GALNS):c.1188del (p.Gln397fs) rs2142993827
NM_000512.5(GALNS):c.118G>A (p.Asp40Asn) rs1967935603
NM_000512.5(GALNS):c.1196A>C (p.Lys399Thr) rs1267791852
NM_000512.5(GALNS):c.1196del (p.Lys399fs) rs2142993816
NM_000512.5(GALNS):c.121-1G>C rs1312522259
NM_000512.5(GALNS):c.121-7C>G rs1004936255
NM_000512.5(GALNS):c.1214G>A (p.Trp405Ter) rs2142993795
NM_000512.5(GALNS):c.1215G>A (p.Trp405Ter) rs2142993793
NM_000512.5(GALNS):c.122T>A (p.Met41Lys) rs1555523411
NM_000512.5(GALNS):c.1242+1G>C
NM_000512.5(GALNS):c.1242+1G>T rs2142993764
NM_000512.5(GALNS):c.1243-1G>A rs1597535277
NM_000512.5(GALNS):c.1243-1G>C rs1597535277
NM_000512.5(GALNS):c.1243-2A>C rs2142992422
NM_000512.5(GALNS):c.1259C>G (p.Pro420Arg) rs752937387
NM_000512.5(GALNS):c.1275del (p.Val427fs) rs2142992383
NM_000512.5(GALNS):c.1290_1291del (p.His430fs) rs2142992359
NM_000512.5(GALNS):c.1355dup (p.Leu454fs) rs1472489567
NM_000512.5(GALNS):c.1364+2_1364+15del
NM_000512.5(GALNS):c.1365-1G>A rs1909832718
NM_000512.5(GALNS):c.1365-2A>G
NM_000512.5(GALNS):c.1374dup (p.Ala459fs)
NM_000512.5(GALNS):c.1387G>T (p.Glu463Ter)
NM_000512.5(GALNS):c.143T>G (p.Val48Gly) rs191519947
NM_000512.5(GALNS):c.1447C>T (p.Gln483Ter) rs2142982313
NM_000512.5(GALNS):c.1450C>T (p.Pro484Ser) rs1204485789
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr) rs760300454
NM_000512.5(GALNS):c.1483-2A>C
NM_000512.5(GALNS):c.1483-2A>G rs2142967340
NM_000512.5(GALNS):c.1487G>C (p.Trp496Ser)
NM_000512.5(GALNS):c.1493C>T (p.Pro498Leu) rs1597515555
NM_000512.5(GALNS):c.1502G>A (p.Cys501Tyr) rs948490589
NM_000512.5(GALNS):c.1502G>C (p.Cys501Ser) rs948490589
NM_000512.5(GALNS):c.1507_1508del (p.Lys503fs) rs753053516
NM_000512.5(GALNS):c.151G>A (p.Glu51Lys) rs1296755011
NM_000512.5(GALNS):c.155C>T (p.Pro52Leu) rs2143005523
NM_000512.5(GALNS):c.1567T>G (p.Ter523Glu) rs1348149236
NM_000512.5(GALNS):c.181C>G (p.Arg61Gly) rs145798311
NM_000512.5(GALNS):c.185T>G (p.Met62Arg)
NM_000512.5(GALNS):c.218A>G (p.Tyr73Cys) rs398123435
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg) rs1422505598
NM_000512.5(GALNS):c.230C>T (p.Pro77Leu)
NM_000512.5(GALNS):c.236G>A (p.Cys79Tyr) rs1263679818
NM_000512.5(GALNS):c.239C>T (p.Ser80Leu) rs1209154325
NM_000512.5(GALNS):c.242C>T (p.Pro81Leu) rs2143005457
NM_000512.5(GALNS):c.245-2A>G rs1352162269
NM_000512.5(GALNS):c.265G>T (p.Gly89Ter) rs1160480473
NM_000512.5(GALNS):c.280C>G (p.Arg94Gly) rs118204441
NM_000512.5(GALNS):c.281G>T (p.Arg94Leu) rs727503946
NM_000512.5(GALNS):c.285dup (p.Gly96fs)
NM_000512.5(GALNS):c.286G>T (p.Gly96Cys) rs2143005086
NM_000512.5(GALNS):c.289T>G (p.Phe97Val) rs2143005083
NM_000512.5(GALNS):c.313A>G (p.Arg105Gly) rs2143005072
NM_000512.5(GALNS):c.319+2T>C rs2143005067
NM_000512.5(GALNS):c.337A>G (p.Ile113Val)
NM_000512.5(GALNS):c.347G>T (p.Gly116Val) rs1966945369
NM_000512.5(GALNS):c.34C>T (p.Gln12Ter) rs911452920
NM_000512.5(GALNS):c.373C>T (p.Pro125Ser)
NM_000512.5(GALNS):c.374C>A (p.Pro125Gln) rs746949976
NM_000512.5(GALNS):c.374C>T (p.Pro125Leu) rs746949976
NM_000512.5(GALNS):c.385A>T (p.Lys129Ter) rs2143004624
NM_000512.5(GALNS):c.409_420del (p.Ile137_Lys140del) rs2143004592
NM_000512.5(GALNS):c.409_422+5del rs2143004580
NM_000512.5(GALNS):c.421T>A (p.Trp141Arg) rs794727625
NM_000512.5(GALNS):c.422+1G>A rs1966940003
NM_000512.5(GALNS):c.422+1G>T rs1966940003
NM_000512.5(GALNS):c.422+2T>G rs2143004585
NM_000512.5(GALNS):c.423-1G>A rs2143002474
NM_000512.5(GALNS):c.423-862C>T rs1597575641
NM_000512.5(GALNS):c.424_566+1del rs2143002309
NM_000512.5(GALNS):c.425A>C (p.His142Pro) rs1288895691
NM_000512.5(GALNS):c.425A>G (p.His142Arg) rs1288895691
NM_000512.5(GALNS):c.425A>T (p.His142Leu) rs1288895691
NM_000512.5(GALNS):c.426T>A (p.His142Gln) rs754616917
NM_000512.5(GALNS):c.433C>T (p.His145Tyr) rs577334837
NM_000512.5(GALNS):c.444_449del (p.Gln148_Phe149del) rs2143002451
NM_000512.5(GALNS):c.448C>T (p.His150Tyr) rs1168278189
NM_000512.5(GALNS):c.454del (p.Pro151_Leu152insTer)
NM_000512.5(GALNS):c.464G>A (p.Gly155Glu) rs2143002437
NM_000512.5(GALNS):c.467T>G (p.Phe156Cys) rs1301146300
NM_000512.5(GALNS):c.473_477del (p.Glu158fs) rs2143002427
NM_000512.5(GALNS):c.47T>A (p.Val16Glu) rs794729202
NM_000512.5(GALNS):c.489del (p.Asn164fs) rs1328983959
NM_000512.5(GALNS):c.491A>C (p.Asn164Thr) rs761725425
NM_000512.5(GALNS):c.494G>A (p.Cys165Tyr) rs768757999
NM_000512.5(GALNS):c.499T>G (p.Phe167Val) rs148565559
NM_000512.5(GALNS):c.501dup (p.Gly168fs) rs2143002383
NM_000512.5(GALNS):c.502G>T (p.Gly168Ter) rs775732598
NM_000512.5(GALNS):c.532_533del (p.Ile178fs) rs2143002345
NM_000512.5(GALNS):c.542A>G (p.Tyr181Cys) rs786205899
NM_000512.5(GALNS):c.547G>T (p.Asp183Tyr) rs2143002331
NM_000512.5(GALNS):c.554del (p.Glu185fs) rs2143002326
NM_000512.5(GALNS):c.562G>A (p.Gly188Ser) rs2143002317
NM_000512.5(GALNS):c.566+1G>A
NM_000512.5(GALNS):c.569A>G (p.Tyr190Cys) rs886042058
NM_000512.5(GALNS):c.571T>G (p.Tyr191Asp) rs2143001744
NM_000512.5(GALNS):c.601G>A (p.Gly201Arg)
NM_000512.5(GALNS):c.611A>C (p.Asn204Thr) rs569725936
NM_000512.5(GALNS):c.611A>G (p.Asn204Ser) rs569725936
NM_000512.5(GALNS):c.612C>G (p.Asn204Lys) rs118204435
NM_000512.5(GALNS):c.634-1G>A rs2143001463
NM_000512.5(GALNS):c.634-1G>T rs2143001463
NM_000512.5(GALNS):c.641T>G (p.Leu214Arg)
NM_000512.5(GALNS):c.648C>G (p.Phe216Leu) rs2143001453
NM_000512.5(GALNS):c.658C>T (p.Gln220Ter) rs1456807949
NM_000512.5(GALNS):c.675_676del (p.Phe227fs) rs2143001422
NM_000512.5(GALNS):c.679T>G (p.Phe227Val) rs2143001417
NM_000512.5(GALNS):c.680del (p.Phe227fs) rs2143001415
NM_000512.5(GALNS):c.700G>A (p.Ala234Thr) rs368603508
NM_000512.5(GALNS):c.700G>T (p.Ala234Ser)
NM_000512.5(GALNS):c.704C>A (p.Thr235Lys) rs398123440
NM_000512.5(GALNS):c.707A>C (p.His236Pro) rs398123441
NM_000512.5(GALNS):c.707A>G (p.His236Arg) rs398123441
NM_000512.5(GALNS):c.716T>G (p.Val239Gly)
NM_000512.5(GALNS):c.751C>T (p.Arg251Ter) rs1275386976
NM_000512.5(GALNS):c.759-2A>G rs2143001213
NM_000512.5(GALNS):c.762T>A (p.Tyr254Ter) rs770815269
NM_000512.5(GALNS):c.764G>C (p.Gly255Ala) rs1912009292
NM_000512.5(GALNS):c.77dup (p.Ala27fs) rs2143013573
NM_000512.5(GALNS):c.791G>A (p.Ser264Asn) rs2143001182
NM_000512.5(GALNS):c.835del (p.Asp279fs)
NM_000512.5(GALNS):c.836ACA[1] (p.Asn280del) rs1389218771
NM_000512.5(GALNS):c.850TTC[1] (p.Phe285del) rs768664270
NM_000512.5(GALNS):c.851T>G (p.Phe284Cys)
NM_000512.5(GALNS):c.866A>G (p.Asn289Ser) rs1465096387
NM_000512.5(GALNS):c.871G>T (p.Ala291Ser) rs118204448
NM_000512.5(GALNS):c.892del (p.Glu298fs)
NM_000512.5(GALNS):c.895C>T (p.Gln299Ter) rs2143001103
NM_000512.5(GALNS):c.899-2A>C rs1165218506
NM_000512.5(GALNS):c.899-2A>G rs1165218506
NM_000512.5(GALNS):c.902G>A (p.Gly301Asp) rs776715466
NM_000512.5(GALNS):c.916T>G (p.Phe306Val) rs2142999207
NM_000512.5(GALNS):c.920T>C (p.Leu307Pro) rs2142999202
NM_000512.5(GALNS):c.934A>G (p.Thr312Ala) rs2142999186
NM_000512.5(GALNS):c.951dup (p.Met318fs) rs2142999166
NM_000512.5(GALNS):c.978G>A (p.Trp326Ter) rs1911558912
NM_000512.5(GALNS):c.[1097T>C;451C>A]
NM_000512.5:c.(1242+1_1243-1)_(1364+1_1365-1)del
NM_000512.5:c.567_1002dup
NM_000525.4(KCNJ11):c.1064dup (p.Leu356fs) rs1337406718
NM_000525.4(KCNJ11):c.112A>G (p.Lys38Glu)
NM_000525.4(KCNJ11):c.152_158del (p.Glu51fs) rs1953591118
NM_000525.4(KCNJ11):c.154C>T (p.Gln52Ter) rs879253757
NM_000525.4(KCNJ11):c.160dup (p.Arg54fs)
NM_000525.4(KCNJ11):c.161G>A (p.Arg54His) rs587783666
NM_000525.4(KCNJ11):c.290dup (p.His97fs) rs1554901854
NM_000525.4(KCNJ11):c.363_366del (p.Leu122fs) rs1554901829
NM_000525.4(KCNJ11):c.365T>C (p.Leu122Pro) rs1591695840
NM_000525.4(KCNJ11):c.405dup (p.Arg136fs) rs557160758
NM_000525.4(KCNJ11):c.498C>A (p.Cys166Ter) rs587783669
NM_000525.4(KCNJ11):c.617G>A (p.Arg206His) rs1554901747
NM_000525.4(KCNJ11):c.697C>T (p.Leu233Phe) rs1564865302
NM_000525.4(KCNJ11):c.718dup (p.Met240fs) rs1554901718
NM_000525.4(KCNJ11):c.765_771dup (p.Tyr258fs) rs1554901690
NM_000525.4(KCNJ11):c.774C>A (p.Tyr258Ter) rs1564865232
NM_000525.4(KCNJ11):c.866G>C (p.Gly289Ala) rs797045637
NM_000525.4(KCNJ11):c.866G>T (p.Gly289Val) rs797045637
NM_000525.4(KCNJ11):c.868G>A (p.Val290Met) rs750414160
NM_000528.4(MAN2B1):c.1026+2T>C rs369099686
NM_000528.4(MAN2B1):c.1027-1G>C
NM_000528.4(MAN2B1):c.1027-2A>C
NM_000528.4(MAN2B1):c.1048dup (p.His350fs) rs2145262260
NM_000528.4(MAN2B1):c.1055T>C (p.Leu352Pro) rs864621980
NM_000528.4(MAN2B1):c.105_106del (p.Cys36fs) rs2024251717
NM_000528.4(MAN2B1):c.1109+1G>C rs2024027294
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter) rs786204715
NM_000528.4(MAN2B1):c.1110-1G>A
NM_000528.4(MAN2B1):c.1110-1G>T rs1599352199
NM_000528.4(MAN2B1):c.1110dup
NM_000528.4(MAN2B1):c.1139_1141delinsT (p.Tyr380fs)
NM_000528.4(MAN2B1):c.1144del (p.Asp382fs)
NM_000528.4(MAN2B1):c.1156del (p.Gln386fs)
NM_000528.4(MAN2B1):c.1163G>A (p.Trp388Ter) rs1057516524
NM_000528.4(MAN2B1):c.119dup (p.Leu40fs)
NM_000528.4(MAN2B1):c.1223_1224delinsAA (p.Phe408Ter)
NM_000528.4(MAN2B1):c.1236C>A (p.Cys412Ter)
NM_000528.4(MAN2B1):c.1240C>T (p.Gln414Ter)
NM_000528.4(MAN2B1):c.1280_1296del (p.Pro427fs) rs1057517408
NM_000528.4(MAN2B1):c.1284T>G (p.Tyr428Ter) rs2024014272
NM_000528.4(MAN2B1):c.1309+1G>T rs1057516745
NM_000528.4(MAN2B1):c.1310-1G>A rs1555708156
NM_000528.4(MAN2B1):c.1358C>T (p.Ser453Phe) rs864621984
NM_000528.4(MAN2B1):c.1360dup (p.Arg454fs)
NM_000528.4(MAN2B1):c.1363C>T (p.Gln455Ter) rs2023996617
NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter) rs775200333
NM_000528.4(MAN2B1):c.1390C>T (p.Gln464Ter) rs1555708126
NM_000528.4(MAN2B1):c.1404dup (p.Trp469fs) rs1599350640
NM_000528.4(MAN2B1):c.1406G>A (p.Trp469Ter) rs2023994563
NM_000528.4(MAN2B1):c.1419+1G>T
NM_000528.4(MAN2B1):c.1419+2_1419+15del rs2145256406
NM_000528.4(MAN2B1):c.1420-104_1449del
NM_000528.4(MAN2B1):c.1420-27_1420-3del
NM_000528.4(MAN2B1):c.1420-2A>G rs2145254657
NM_000528.4(MAN2B1):c.1450A>T (p.Arg484Ter) rs2023979174
NM_000528.4(MAN2B1):c.1454del (p.Gly485fs)
NM_000528.4(MAN2B1):c.1468_1472del (p.Phe490fs) rs1057517316
NM_000528.4(MAN2B1):c.1483C>T (p.Gln495Ter) rs755508725
NM_000528.4(MAN2B1):c.1503C>A (p.Cys501Ter) rs886054230
NM_000528.4(MAN2B1):c.1516_1519del (p.Thr506fs) rs1599349822
NM_000528.4(MAN2B1):c.1527+1G>A
NM_000528.4(MAN2B1):c.1527+1G>C rs1322313985
NM_000528.4(MAN2B1):c.1528-1G>T rs561991886
NM_000528.4(MAN2B1):c.1528-2A>G
NM_000528.4(MAN2B1):c.1545T>A (p.Tyr515Ter) rs2023968144
NM_000528.4(MAN2B1):c.159+1G>A rs1555710254
NM_000528.4(MAN2B1):c.159+2T>C rs1057516501
NM_000528.4(MAN2B1):c.162del (p.Cys55fs) rs2145290970
NM_000528.4(MAN2B1):c.1638del (p.Ser547fs)
NM_000528.4(MAN2B1):c.164G>T (p.Cys55Phe) rs864621975
NM_000528.4(MAN2B1):c.1724_1734delinsA (p.Phe575fs)
NM_000528.4(MAN2B1):c.1736C>G (p.Ser579Ter) rs2023939487
NM_000528.4(MAN2B1):c.1774_1783del (p.Ala592fs) rs1057516459
NM_000528.4(MAN2B1):c.1795A>T (p.Arg599Ter)
NM_000528.4(MAN2B1):c.1795del (p.Arg599fs)
NM_000528.4(MAN2B1):c.1803G>A (p.Trp601Ter) rs1224319934
NM_000528.4(MAN2B1):c.1851del (p.Pro618fs) rs1057516289
NM_000528.4(MAN2B1):c.1859_1860del (p.Thr620fs)
NM_000528.4(MAN2B1):c.1889delinsCAC (p.Asn630fs)
NM_000528.4(MAN2B1):c.1915C>T (p.Gln639Ter) rs121434332
NM_000528.4(MAN2B1):c.1928G>A (p.Trp643Ter) rs1599344532
NM_000528.4(MAN2B1):c.1929-2A>G rs2023856348
NM_000528.4(MAN2B1):c.1929-2A>T
NM_000528.4(MAN2B1):c.1954G>T (p.Glu652Ter) rs756680048
NM_000528.4(MAN2B1):c.1963del (p.Gln655fs)
NM_000528.4(MAN2B1):c.1986_1987del (p.Phe662fs)
NM_000528.4(MAN2B1):c.1996C>T (p.Gln666Ter)
NM_000528.4(MAN2B1):c.1996_1999del (p.Gln666fs)
NM_000528.4(MAN2B1):c.2002A>T (p.Lys668Ter) rs2023853280
NM_000528.4(MAN2B1):c.201_202insTGTACACATTT (p.Leu68fs)
NM_000528.4(MAN2B1):c.2025G>A (p.Trp675Ter) rs2023852354
NM_000528.4(MAN2B1):c.2044A>T (p.Lys682Ter) rs2023851530
NM_000528.4(MAN2B1):c.2046+1G>A rs1555707087
NM_000528.4(MAN2B1):c.2046+1G>T rs1555707087
NM_000528.4(MAN2B1):c.2047-1G>A rs1057517166
NM_000528.4(MAN2B1):c.2071C>T (p.Gln691Ter) rs2023809731
NM_000528.4(MAN2B1):c.2091T>A (p.Cys697Ter) rs2023809176
NM_000528.4(MAN2B1):c.2114del (p.Pro705fs) rs1555706774
NM_000528.4(MAN2B1):c.2126_2127del (p.His709fs)
NM_000528.4(MAN2B1):c.215A>T (p.His72Leu) rs387906261
NM_000528.4(MAN2B1):c.2165+1del rs1555706752
NM_000528.4(MAN2B1):c.2166-2A>G rs2145232776
NM_000528.4(MAN2B1):c.2174G>A (p.Trp725Ter) rs2023804275
NM_000528.4(MAN2B1):c.2176G>A (p.Gly726Arg)
NM_000528.4(MAN2B1):c.2199del (p.Phe733fs)
NM_000528.4(MAN2B1):c.2222del (p.Gly741fs)
NM_000528.4(MAN2B1):c.2248C>G (p.Arg750Gly) rs80338680
NM_000528.4(MAN2B1):c.2268-1G>C rs1555706596
NM_000528.4(MAN2B1):c.2268-2A>T rs2023783146
NM_000528.4(MAN2B1):c.2294_2295del (p.Leu765fs)
NM_000528.4(MAN2B1):c.231G>A (p.Trp77Ter) rs1555710070
NM_000528.4(MAN2B1):c.2355G>A (p.Thr785=) rs1008745697
NM_000528.4(MAN2B1):c.2356-2A>G rs1064793936
NM_000528.4(MAN2B1):c.2396del (p.Gln799fs)
NM_000528.4(MAN2B1):c.2398G>A (p.Gly800Arg) rs398123456
NM_000528.4(MAN2B1):c.2398G>C (p.Gly800Arg) rs398123456
NM_000528.4(MAN2B1):c.2402G>A (p.Gly801Asp) rs864621994
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs) rs797044680
NM_000528.4(MAN2B1):c.2436+1G>A rs200036864
NM_000528.4(MAN2B1):c.2436+5G>A
NM_000528.4(MAN2B1):c.2437-300_2719del
NM_000528.4(MAN2B1):c.2445_2447delinsT (p.Arg816fs)
NM_000528.4(MAN2B1):c.247C>T (p.Gln83Ter) rs2024217737
NM_000528.4(MAN2B1):c.2492_2499del (p.Glu831fs)
NM_000528.4(MAN2B1):c.2515C>T (p.Arg839Ter) rs1291147781
NM_000528.4(MAN2B1):c.2544_2568dup (p.Arg857fs)
NM_000528.4(MAN2B1):c.2596del (p.Ala866fs)
NM_000528.4(MAN2B1):c.2600del (p.Pro867fs)
NM_000528.4(MAN2B1):c.2602_2612del (p.Gln868fs)
NM_000528.4(MAN2B1):c.2607_2608insTATAAGAGACAGT (p.Val870fs)
NM_000528.4(MAN2B1):c.262+2T>C
NM_000528.4(MAN2B1):c.263-1G>A
NM_000528.4(MAN2B1):c.263-2A>C
NM_000528.4(MAN2B1):c.2636_2637insTCCCAACT (p.Asn880fs)
NM_000528.4(MAN2B1):c.2665-1G>C rs1555706185
NM_000528.4(MAN2B1):c.2665-2A>G
NM_000528.4(MAN2B1):c.2696C>A (p.Ser899Ter) rs767323371
NM_000528.4(MAN2B1):c.2723G>A (p.Trp908Ter) rs368224056
NM_000528.4(MAN2B1):c.2731G>T (p.Glu911Ter) rs139366493
NM_000528.4(MAN2B1):c.2744T>C (p.Leu915Pro) rs1555706137
NM_000528.4(MAN2B1):c.2747G>A (p.Arg916His) rs758765126
NM_000528.4(MAN2B1):c.2752G>T (p.Glu918Ter) rs2023718817
NM_000528.4(MAN2B1):c.2758C>T (p.Gln920Ter)
NM_000528.4(MAN2B1):c.2778_2781dup (p.Gly928fs)
NM_000528.4(MAN2B1):c.277C>T (p.Gln93Ter) rs1057516325
NM_000528.4(MAN2B1):c.2802dup (p.Val935fs) rs1057516864
NM_000528.4(MAN2B1):c.2821-2A>G
NM_000528.4(MAN2B1):c.2887_2902del (p.Glu963fs) rs2023710111
NM_000528.4(MAN2B1):c.2917_2923+1dup
NM_000528.4(MAN2B1):c.2921_2922del (p.Thr974fs) rs1555705992
NM_000528.4(MAN2B1):c.2922del (p.Gly975fs) rs1057516897
NM_000528.4(MAN2B1):c.292C>T (p.Gln98Ter) rs2024210372
NM_000528.4(MAN2B1):c.2999T>C (p.Phe1000Ser) rs864621991
NM_000528.4(MAN2B1):c.358G>A (p.Glu120Lys) rs2024208039
NM_000528.4(MAN2B1):c.414del (p.Val139fs)
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter) rs370803545
NM_000528.4(MAN2B1):c.426del (p.Val143fs) rs2024205685
NM_000528.4(MAN2B1):c.437-1G>A
NM_000528.4(MAN2B1):c.437-1dup rs1160557969
NM_000528.4(MAN2B1):c.437-2A>G
NM_000528.4(MAN2B1):c.437-2del
NM_000528.4(MAN2B1):c.440del (p.Arg147fs)
NM_000528.4(MAN2B1):c.446del (p.Glu149fs) rs1057516682
NM_000528.4(MAN2B1):c.495C>A (p.Tyr165Ter) rs771479314
NM_000528.4(MAN2B1):c.53_54insT (p.Ala19fs) rs1057516810
NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg) rs864621977
NM_000528.4(MAN2B1):c.593dup (p.Gly199fs)
NM_000528.4(MAN2B1):c.628C>T (p.Gln210Ter)
NM_000528.4(MAN2B1):c.631-2A>C
NM_000528.4(MAN2B1):c.645_646insAG (p.Phe216fs)
NM_000528.4(MAN2B1):c.664_667del (p.Asp222fs)
NM_000528.4(MAN2B1):c.686G>T (p.Arg229Leu) rs574202419
NM_000528.4(MAN2B1):c.739_740insTAAAGAT (p.Pro247fs)
NM_000528.4(MAN2B1):c.763+2_763+8del rs1057517108
NM_000528.4(MAN2B1):c.764-1G>C rs1555709533
NM_000528.4(MAN2B1):c.807G>A (p.Trp269Ter) rs1329771201
NM_000528.4(MAN2B1):c.872_875dup (p.Val293fs)
NM_000528.4(MAN2B1):c.909+1G>C
NM_000528.4(MAN2B1):c.93dup (p.Leu32fs) rs1057516972
NM_000528.4(MAN2B1):c.953C>A (p.Ser318Ter) rs774034389
NM_000528.4(MAN2B1):c.969del (p.Asn324fs)
NM_000545.8(HNF1A):c.1129del (p.Leu377fs) rs193922576
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
NM_000545.8(HNF1A):c.1136C>A (p.Pro379His) rs371717826
NM_000545.8(HNF1A):c.1136_1137del (p.Pro379fs) rs1593060890
NM_000545.8(HNF1A):c.1136del (p.Pro379fs) rs1593060859
NM_000545.8(HNF1A):c.1137del (p.Val380fs) rs1555212248
NM_000545.8(HNF1A):c.1139del (p.Val380fs) rs1877113317
NM_000545.8(HNF1A):c.1140dup (p.Ser381fs) rs1593060912
NM_000545.8(HNF1A):c.1193A>C (p.Gln398Pro)
NM_000545.8(HNF1A):c.1264del (p.Leu422fs)
NM_000545.8(HNF1A):c.1265T>C (p.Leu422Pro) rs193922577
NM_000545.8(HNF1A):c.130del (p.Leu44fs) rs193922578
NM_000545.8(HNF1A):c.1310-1G>A rs1877168655
NM_000545.8(HNF1A):c.1310-2A>G rs2135847311
NM_000545.8(HNF1A):c.1345_1346insG (p.Ile449fs) rs2135847490
NM_000545.8(HNF1A):c.1359del (p.Ser454fs) rs1555212359
NM_000545.8(HNF1A):c.1369_1384dup (p.Val462fs) rs2135847592
NM_000545.8(HNF1A):c.139_155del (p.Gly47fs) rs2135819737
NM_000545.8(HNF1A):c.142del (p.Glu48fs) rs1566092470
NM_000545.8(HNF1A):c.1463_1473del (p.Pro488fs) rs1877180449
NM_000545.8(HNF1A):c.1469T>G (p.Met490Arg)
NM_000545.8(HNF1A):c.1501+1G>A rs1131692182
NM_000545.8(HNF1A):c.1501+4A>G
NM_000545.8(HNF1A):c.1501+5G>C rs1399164820
NM_000545.8(HNF1A):c.1506_1507dup (p.Tyr503fs) rs193922582
NM_000545.8(HNF1A):c.1541dup (p.His514fs) rs1877293842
NM_000545.8(HNF1A):c.1614_1617del (p.Thr539fs)
NM_000545.8(HNF1A):c.1623G>A (p.Gln541=)
NM_000545.8(HNF1A):c.1624-2A>G rs1877309778
NM_000545.8(HNF1A):c.1637_1647del (p.Asp546fs)
NM_000545.8(HNF1A):c.169del (p.Leu57fs) rs193922588
NM_000545.8(HNF1A):c.1742_1768+2delinsACAGGG
NM_000545.8(HNF1A):c.1747_1766del (p.Arg583fs) rs1592898255
NM_000545.8(HNF1A):c.1766dup (p.Val590fs)
NM_000545.8(HNF1A):c.1768+1G>A rs1877324101
NM_000545.8(HNF1A):c.1822_1829del (p.Ser608fs) rs1555212749
NM_000545.8(HNF1A):c.194G>A (p.Gly65Glu) rs2135819938
NM_000545.8(HNF1A):c.1A>G (p.Met1Val) rs193922592
NM_000545.8(HNF1A):c.26A>T (p.Gln9Leu) rs1876081310
NM_000545.8(HNF1A):c.281C>T (p.Pro94Leu) rs193922593
NM_000545.8(HNF1A):c.2T>C (p.Met1Thr) rs2135819325
NM_000545.8(HNF1A):c.313dup (p.Glu105fs) rs193922594
NM_000545.8(HNF1A):c.326+2T>G rs1555210478
NM_000545.8(HNF1A):c.327-3_327-1del rs1593054210
NM_000545.8(HNF1A):c.343G>T (p.Val115Leu) rs1876667856
NM_000545.8(HNF1A):c.365A>G (p.Tyr122Cys) rs137853237
NM_000545.8(HNF1A):c.369GCA[4] (p.Gln125dup) rs193922596
NM_000545.8(HNF1A):c.404A>C (p.Asp135Ala) rs1876671395
NM_000545.8(HNF1A):c.404del (p.Asp135fs) rs2135832632
NM_000545.8(HNF1A):c.441C>A (p.His147Gln) rs193922597
NM_000545.8(HNF1A):c.467C>A (p.Thr156Lys) rs150513055
NM_000545.8(HNF1A):c.475C>T (p.Arg159Trp) rs765432081
NM_000545.8(HNF1A):c.494G>T (p.Trp165Leu)
NM_000545.8(HNF1A):c.4del (p.Val2fs) rs1555260207
NM_000545.8(HNF1A):c.518_526+37del rs386134267
NM_000545.8(HNF1A):c.523C>T (p.Gln175Ter)
NM_000545.8(HNF1A):c.526+5G>A
NM_000545.8(HNF1A):c.527-1G>A rs1555211904
NM_000545.8(HNF1A):c.527-1G>C
NM_000545.8(HNF1A):c.52G>T (p.Glu18Ter) rs1876084046
NM_000545.8(HNF1A):c.607C>A (p.Arg203Ser) rs1180119907
NM_000545.8(HNF1A):c.607C>T (p.Arg203Cys) rs1180119907
NM_000545.8(HNF1A):c.661C>T (p.Gln221Ter) rs2135839643
NM_000545.8(HNF1A):c.663GAA[1] (p.Lys222del) rs193922599
NM_000545.8(HNF1A):c.670C>T (p.Pro224Ser) rs193922600
NM_000545.8(HNF1A):c.676_678del (p.Lys226del) rs1555211927
NM_000545.8(HNF1A):c.686G>A (p.Arg229Gln) rs1057520779
NM_000545.8(HNF1A):c.695T>C (p.Leu232Pro)
NM_000545.8(HNF1A):c.714-1G>A rs1463923467
NM_000545.8(HNF1A):c.722_725dup (p.Ile242fs) rs1555211975
NM_000545.8(HNF1A):c.731G>T (p.Arg244Ile) rs193922602
NM_000545.8(HNF1A):c.734G>T (p.Gly245Val) rs193922603
NM_000545.8(HNF1A):c.737T>G (p.Val246Gly) rs2135841238
NM_000545.8(HNF1A):c.748C>T (p.Gln250Ter) rs1308016430
NM_000545.8(HNF1A):c.779C>T (p.Thr260Met) rs886039544
NM_000545.8(HNF1A):c.790G>T (p.Val264Phe) rs193922604
NM_000545.8(HNF1A):c.794A>C (p.Tyr265Ser) rs1555212006
NM_000545.8(HNF1A):c.803T>C (p.Phe268Ser) rs193922605
NM_000545.8(HNF1A):c.814C>T (p.Arg272Cys) rs1555212014
NM_000545.8(HNF1A):c.815G>A (p.Arg272His) rs137853238
NM_000545.8(HNF1A):c.818AAG[2] (p.Glu275del) rs1288094664
NM_000545.8(HNF1A):c.864_897del (p.Pro290fs) rs1565885935
NM_000545.8(HNF1A):c.864del (p.Pro291fs) rs762703502
NM_000545.8(HNF1A):c.864delinsCC (p.Gly292fs) rs1593058932
NM_000545.8(HNF1A):c.872C>G (p.Pro291Arg) rs193922606
NM_000545.8(HNF1A):c.955+2T>C
NM_000545.8(HNF1A):c.955+2dup
NM_000545.8(HNF1A):c.955+5G>C
NM_000642.2(AGL):c.84delG rs1553183148
NM_000642.3(AGL):c.1027C>T (p.Arg343Trp) rs1131691438
NM_000642.3(AGL):c.1038T>A (p.Cys346Ter) rs1651358664
NM_000642.3(AGL):c.1041dup (p.Val348fs) rs2101126325
NM_000642.3(AGL):c.104T>G (p.Leu35Ter) rs1057516567
NM_000642.3(AGL):c.1091del (p.Pro364fs)
NM_000642.3(AGL):c.1110C>A (p.Cys370Ter) rs1651407980
NM_000642.3(AGL):c.1113dup (p.Asn372Ter)
NM_000642.3(AGL):c.1115del (p.Asn372fs)
NM_000642.3(AGL):c.1148C>G (p.Ser383Ter)
NM_000642.3(AGL):c.1159C>T (p.Arg387Ter) rs1553185418
NM_000642.3(AGL):c.1169_1172del (p.Asn390fs) rs1057516741
NM_000642.3(AGL):c.1185+1G>A rs1057516948
NM_000642.3(AGL):c.118C>T (p.Gln40Ter) rs771961377
NM_000642.3(AGL):c.121G>T (p.Gly41Ter) rs1553183178
NM_000642.3(AGL):c.1243A>T (p.Lys415Ter) rs2101128697
NM_000642.3(AGL):c.1282A>G (p.Arg428Gly) rs886039883
NM_000642.3(AGL):c.1283+2T>C
NM_000642.3(AGL):c.1284-1G>A
NM_000642.3(AGL):c.1284-2A>G rs1651536973
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer) rs786204678
NM_000642.3(AGL):c.1391dup (p.Asp465fs) rs786204616
NM_000642.3(AGL):c.1400del (p.Pro467fs) rs1057516913
NM_000642.3(AGL):c.1405C>T (p.Arg469Ter) rs766536350
NM_000642.3(AGL):c.140dup (p.Tyr47Ter) rs1057517347
NM_000642.3(AGL):c.1417G>T (p.Glu473Ter) rs1651556356
NM_000642.3(AGL):c.1423+1G>T rs751952198
NM_000642.3(AGL):c.1427C>A (p.Ser476Ter)
NM_000642.3(AGL):c.1437C>A (p.Tyr479Ter) rs140095668
NM_000642.3(AGL):c.1444A>T (p.Arg482Ter)
NM_000642.3(AGL):c.1447G>T (p.Glu483Ter)
NM_000642.3(AGL):c.1494del (p.Lys498fs)
NM_000642.3(AGL):c.1517G>A (p.Trp506Ter)
NM_000642.3(AGL):c.1536C>A (p.Tyr512Ter)
NM_000642.3(AGL):c.1536_1545del (p.Lys511_Tyr512insTer) rs1553185883
NM_000642.3(AGL):c.1597_1598del (p.Leu533fs) rs1057516570
NM_000642.3(AGL):c.1611+2T>G
NM_000642.3(AGL):c.1612-1G>A rs1327892944
NM_000642.3(AGL):c.1612-1G>C rs1327892944
NM_000642.3(AGL):c.1637T>A (p.Leu546Ter)
NM_000642.3(AGL):c.1640_1641insGCTGG (p.Pro548fs)
NM_000642.3(AGL):c.1649T>G (p.Leu550Ter) rs1651872905
NM_000642.3(AGL):c.1680_1683dup (p.Asp562Ter)
NM_000642.3(AGL):c.1688delinsGA (p.Leu563fs) rs1651876879
NM_000642.3(AGL):c.1727T>A (p.Leu576Ter)
NM_000642.3(AGL):c.1727T>G (p.Leu576Ter) rs1651881949
NM_000642.3(AGL):c.1734A>T (p.Arg578Ser) rs1570442236
NM_000642.3(AGL):c.1736-11A>G rs2101148246
NM_000642.3(AGL):c.1782C>A (p.Tyr594Ter) rs1057516563
NM_000642.3(AGL):c.1788T>G (p.Tyr596Ter) rs777871903
NM_000642.3(AGL):c.1858dup (p.Leu620fs)
NM_000642.3(AGL):c.1859T>C (p.Leu620Pro)
NM_000642.3(AGL):c.1883dup (p.Asn628fs)
NM_000642.3(AGL):c.1890T>A (p.Cys630Ter) rs1651951474
NM_000642.3(AGL):c.18_19del (p.Gln6fs) rs113994127
NM_000642.3(AGL):c.1907C>G (p.Ser636Ter)
NM_000642.3(AGL):c.193_194del (p.Leu65fs)
NM_000642.3(AGL):c.1942dup (p.Ser648fs) rs2100758555
NM_000642.3(AGL):c.1998del (p.Gln667fs)
NM_000642.3(AGL):c.2001+1G>T
NM_000642.3(AGL):c.2001+2T>C rs1057516708
NM_000642.3(AGL):c.2002-1G>C rs2100759240
NM_000642.3(AGL):c.2011_2012del (p.Val671fs) rs1057516666
NM_000642.3(AGL):c.2011del (p.Val671fs)
NM_000642.3(AGL):c.2024_2033del (p.Arg675fs) rs1652003965
NM_000642.3(AGL):c.2034del (p.Lys679fs)
NM_000642.3(AGL):c.2036del (p.Lys679fs) rs2100759432
NM_000642.3(AGL):c.2062_2065del (p.Asn688fs)
NM_000642.3(AGL):c.2109T>A (p.Cys703Ter)
NM_000642.3(AGL):c.2120_2121del (p.Lys707fs) rs1553186577
NM_000642.3(AGL):c.2123_2124insA (p.His709fs)
NM_000642.3(AGL):c.214_215del (p.Glu72fs) rs754978531
NM_000642.3(AGL):c.2155C>T (p.Gln719Ter) rs1652018859
NM_000642.3(AGL):c.2158-1G>T
NM_000642.3(AGL):c.2158-2A>G rs878959417
NM_000642.3(AGL):c.2196_2197delinsGTAT (p.Thr733fs)
NM_000642.3(AGL):c.2207C>A (p.Ser736Ter)
NM_000642.3(AGL):c.2223_2224del (p.Gln741fs) rs1553186613
NM_000642.3(AGL):c.223_224del (p.Glu74_Asp75insTer) rs767346840
NM_000642.3(AGL):c.2277C>A (p.Tyr759Ter)
NM_000642.3(AGL):c.2278del (p.Ser760fs) rs1057517136
NM_000642.3(AGL):c.2308+2T>A
NM_000642.3(AGL):c.2349_2352del (p.Arg784fs)
NM_000642.3(AGL):c.2351_2352del (p.Arg784fs)
NM_000642.3(AGL):c.2399dup (p.Asp801fs) rs1652268068
NM_000642.3(AGL):c.2433+1G>A rs2100768428
NM_000642.3(AGL):c.2434-1G>T rs2100768726
NM_000642.3(AGL):c.2457_2460del (p.Gln820fs) rs1553187237
NM_000642.3(AGL):c.2465del (p.Gly822fs)
NM_000642.3(AGL):c.2480_2481insA (p.Pro828fs)
NM_000642.3(AGL):c.2516dup (p.Asn839fs)
NM_000642.3(AGL):c.2525del (p.Pro842fs) rs1057517425
NM_000642.3(AGL):c.2530dup (p.Ser844fs)
NM_000642.3(AGL):c.2538dup (p.Ile847fs) rs1057516984
NM_000642.3(AGL):c.2569C>T (p.Gln857Ter) rs1652306026
NM_000642.3(AGL):c.2605C>T (p.Gln869Ter) rs1057516254
NM_000642.3(AGL):c.2623A>T (p.Lys875Ter)
NM_000642.3(AGL):c.2670del (p.Pro891fs) rs764591009
NM_000642.3(AGL):c.2682-2A>G rs1185321132
NM_000642.3(AGL):c.2685_2686del (p.Ala896fs)
NM_000642.3(AGL):c.2692A>T (p.Arg898Ter)
NM_000642.3(AGL):c.2702T>A (p.Leu901Ter)
NM_000642.3(AGL):c.2724_2725del (p.Tyr909fs)
NM_000642.3(AGL):c.2738C>A (p.Ser913Ter) rs1652583223
NM_000642.3(AGL):c.2740G>T (p.Glu914Ter)
NM_000642.3(AGL):c.2783G>A (p.Trp928Ter)
NM_000642.3(AGL):c.2799T>G (p.Tyr933Ter) rs767529587
NM_000642.3(AGL):c.2810_2812+21del
NM_000642.3(AGL):c.2812+1G>C
NM_000642.3(AGL):c.2869del (p.Cys957fs)
NM_000642.3(AGL):c.2894G>A (p.Trp965Ter) rs1652877420
NM_000642.3(AGL):c.289C>T (p.Gln97Ter) rs1553183220
NM_000642.3(AGL):c.2905dup (p.Tyr969fs) rs1652879873
NM_000642.3(AGL):c.2906_2907del (p.Tyr969fs) rs1553188559
NM_000642.3(AGL):c.293+1G>T
NM_000642.3(AGL):c.293+1del rs777857395
NM_000642.3(AGL):c.294-1G>C rs757967016
NM_000642.3(AGL):c.294-2A>T rs1057516868
NM_000642.3(AGL):c.2949+2T>A rs750492389
NM_000642.3(AGL):c.2949+2T>C rs750492389
NM_000642.3(AGL):c.2949+5G>A rs1652885754
NM_000642.3(AGL):c.2950-1G>A rs1057516793
NM_000642.3(AGL):c.2950-1G>C rs1057516793
NM_000642.3(AGL):c.2950-2A>C rs770438130
NM_000642.3(AGL):c.296del (p.Asn99fs)
NM_000642.3(AGL):c.2989C>T (p.Gln997Ter)
NM_000642.3(AGL):c.3011del (p.Pro1004fs) rs1057516306
NM_000642.3(AGL):c.3054_3083+34del
NM_000642.3(AGL):c.3083+1G>A rs2100790188
NM_000642.3(AGL):c.3083+1G>T
NM_000642.3(AGL):c.3083+2T>C rs1057516952
NM_000642.3(AGL):c.3084-1G>A
NM_000642.3(AGL):c.3090_3091del (p.Gln1031fs)
NM_000642.3(AGL):c.3091C>T (p.Gln1031Ter)
NM_000642.3(AGL):c.3100_3101del (p.Ser1034fs)
NM_000642.3(AGL):c.3178del (p.Ser1060fs)
NM_000642.3(AGL):c.3204_3205dup (p.Arg1069fs)
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs) rs771069887
NM_000642.3(AGL):c.3221_3222del (p.Thr1074fs)
NM_000642.3(AGL):c.3223A>T (p.Lys1075Ter)
NM_000642.3(AGL):c.3235C>T (p.Gln1079Ter) rs1553188849
NM_000642.3(AGL):c.3238del (p.Cys1080fs)
NM_000642.3(AGL):c.3259+1G>C
NM_000642.3(AGL):c.3260-2A>T rs775904482
NM_000642.3(AGL):c.3297G>A (p.Trp1099Ter) rs786204490
NM_000642.3(AGL):c.3299del (p.Gly1100fs)
NM_000642.3(AGL):c.3302G>A (p.Arg1101Lys)
NM_000642.3(AGL):c.3362+1G>A rs1553189468
NM_000642.3(AGL):c.3362+2T>C rs2100804114
NM_000642.3(AGL):c.3362G>A (p.Arg1121Lys) rs1653326843
NM_000642.3(AGL):c.3363-1G>A rs1057516513
NM_000642.3(AGL):c.337_338del (p.Leu113fs)
NM_000642.3(AGL):c.338T>A (p.Leu113Ter)
NM_000642.3(AGL):c.3439A>T (p.Arg1147Ter) rs267606639
NM_000642.3(AGL):c.3443dup (p.Tyr1148Ter) rs1057517079
NM_000642.3(AGL):c.3444C>G (p.Tyr1148Ter) rs776977863
NM_000642.3(AGL):c.3450T>A (p.Cys1150Ter)
NM_000642.3(AGL):c.3480T>A (p.Cys1160Ter) rs763652784
NM_000642.3(AGL):c.348_373del (p.Ala117fs) rs1057516308
NM_000642.3(AGL):c.3498_3499del (p.Lys1166fs)
NM_000642.3(AGL):c.3538del (p.Ser1180fs) rs1553190316
NM_000642.3(AGL):c.3588_3588+14del
NM_000642.3(AGL):c.3588_3588+2del
NM_000642.3(AGL):c.3589-1G>A rs1289339080
NM_000642.3(AGL):c.3589-3C>G rs1653935585
NM_000642.3(AGL):c.3604G>T (p.Glu1202Ter)
NM_000642.3(AGL):c.3613C>T (p.Gln1205Ter) rs775498547
NM_000642.3(AGL):c.3630del (p.Lys1210fs) rs1653938652
NM_000642.3(AGL):c.3662del (p.Asn1221fs)
NM_000642.3(AGL):c.3674_3696del (p.Gln1225fs) rs1553190751
NM_000642.3(AGL):c.36_37insCG (p.Asn13fs) rs762545015
NM_000642.3(AGL):c.3700+1G>A rs2100825216
NM_000642.3(AGL):c.3700+2T>C
NM_000642.3(AGL):c.3701-2A>G
NM_000642.3(AGL):c.3718G>T (p.Gly1240Ter) rs1654687449
NM_000642.3(AGL):c.3733del (p.Thr1245fs)
NM_000642.3(AGL):c.3745del (p.Tyr1249fs)
NM_000642.3(AGL):c.3771del (p.Thr1258fs)
NM_000642.3(AGL):c.3772_3776del (p.Thr1258fs) rs2100849229
NM_000642.3(AGL):c.3787del (p.Met1263fs)
NM_000642.3(AGL):c.3790G>T (p.Gly1264Ter)
NM_000642.3(AGL):c.3793G>T (p.Glu1265Ter) rs1654695322
NM_000642.3(AGL):c.3807dup (p.Arg1270Ter) rs1057517017
NM_000642.3(AGL):c.3816_3817del (p.Gly1273fs) rs867341758
NM_000642.3(AGL):c.3835A>T (p.Arg1279Ter) rs1654701324
NM_000642.3(AGL):c.3882dup (p.Arg1295fs)
NM_000642.3(AGL):c.3895G>T (p.Glu1299Ter) rs1654817532
NM_000642.3(AGL):c.3899T>G (p.Leu1300Ter) rs1654818141
NM_000642.3(AGL):c.3911del (p.Asn1304fs) rs745757264
NM_000642.3(AGL):c.3911dup (p.Asn1304fs) rs745757264
NM_000642.3(AGL):c.3941_3949+12del rs1553192718
NM_000642.3(AGL):c.3949+1G>C
NM_000642.3(AGL):c.3972T>G (p.Tyr1324Ter)
NM_000642.3(AGL):c.3G>C (p.Met1Ile) rs1553181400
NM_000642.3(AGL):c.401_460+75delinsTATTACAT
NM_000642.3(AGL):c.408T>A (p.Cys136Ter)
NM_000642.3(AGL):c.4099G>T (p.Gly1367Ter)
NM_000642.3(AGL):c.4100del (p.Gly1367fs) rs777120567
NM_000642.3(AGL):c.4126C>T (p.Gln1376Ter) rs762602838
NM_000642.3(AGL):c.4162-1G>A rs1490339052
NM_000642.3(AGL):c.4162-2A>T
NM_000642.3(AGL):c.4162-5_4162-1delinsCTAGTGAAT
NM_000642.3(AGL):c.4165_4166del (p.Ala1388_Pro1389insTer) rs1293077915
NM_000642.3(AGL):c.4175_4176del (p.Phe1392fs) rs1057517405
NM_000642.3(AGL):c.4197del (p.Ala1400fs) rs786204595
NM_000642.3(AGL):c.4204G>T (p.Glu1402Ter)
NM_000642.3(AGL):c.4221dup (p.Leu1408fs) rs786204655
NM_000642.3(AGL):c.4243A>T (p.Lys1415Ter)
NM_000642.3(AGL):c.4249_4250del (p.Leu1417fs)
NM_000642.3(AGL):c.4255_4259+150del
NM_000642.3(AGL):c.4256dup (p.Asp1420fs)
NM_000642.3(AGL):c.4259+5G>A rs780504025
NM_000642.3(AGL):c.4260-1G>A
NM_000642.3(AGL):c.4260-2A>C
NM_000642.3(AGL):c.4275T>A (p.Cys1425Ter) rs1655117886
NM_000642.3(AGL):c.4295T>A (p.Leu1432Ter)
NM_000642.3(AGL):c.4322_4323dup (p.Gly1442fs) rs1057516994
NM_000642.3(AGL):c.4323del (p.Gly1442fs) rs1057516994
NM_000642.3(AGL):c.4347+1G>A rs1553193463
NM_000642.3(AGL):c.4347+1G>T rs1553193463
NM_000642.3(AGL):c.4348-2A>T rs1353062665
NM_000642.3(AGL):c.4348G>T (p.Glu1450Ter) rs1553193486
NM_000642.3(AGL):c.437del (p.Arg146fs) rs1057517344
NM_000642.3(AGL):c.4422del (p.Ala1475fs) rs1286364615
NM_000642.3(AGL):c.442del (p.Arg148fs) rs1057516397
NM_000642.3(AGL):c.4481+1G>C rs1553193529
NM_000642.3(AGL):c.4481+2T>G rs1553193530
NM_000642.3(AGL):c.454G>T (p.Glu152Ter) rs1650125542
NM_000642.3(AGL):c.4562C>T (p.Ser1521Leu)
NM_000642.3(AGL):c.458C>A (p.Ser153Ter) rs1650126015
NM_000642.3(AGL):c.4599G>C (p.Ter1533Tyr) rs1655521504
NM_000642.3(AGL):c.460+1G>A rs930434905
NM_000642.3(AGL):c.471del (p.Met157fs)
NM_000642.3(AGL):c.500dup (p.Leu168fs) rs1443902661
NM_000642.3(AGL):c.506_507insA (p.Ser169_Arg170insTer)
NM_000642.3(AGL):c.516C>A (p.Cys172Ter) rs1650330685
NM_000642.3(AGL):c.535_538del (p.Leu179fs) rs794727706
NM_000642.3(AGL):c.538G>T (p.Glu180Ter)
NM_000642.3(AGL):c.557C>G (p.Ser186Ter)
NM_000642.3(AGL):c.567dup (p.Arg190Ter) rs1650334882
NM_000642.3(AGL):c.604del (p.Glu202fs)
NM_000642.3(AGL):c.615_616insTTCCT (p.Lys206fs)
NM_000642.3(AGL):c.619del (p.Glu207fs)
NM_000642.3(AGL):c.623G>A (p.Trp208Ter)
NM_000642.3(AGL):c.643G>A (p.Asp215Asn)
NM_000642.3(AGL):c.64del (p.Leu22fs) rs1057517057
NM_000642.3(AGL):c.664+1G>A rs61811105
NM_000642.3(AGL):c.664+1G>C rs61811105
NM_000642.3(AGL):c.664+2T>C rs1650347038
NM_000642.3(AGL):c.665-2A>G
NM_000642.3(AGL):c.667del (p.Ala223fs)
NM_000642.3(AGL):c.672dup (p.Ser225Ter) rs1057516471
NM_000642.3(AGL):c.680G>A (p.Trp227Ter) rs145929061
NM_000642.3(AGL):c.681G>A (p.Trp227Ter) rs753914653
NM_000642.3(AGL):c.743G>A (p.Trp248Ter)
NM_000642.3(AGL):c.772T>C (p.Ser258Pro) rs886039873
NM_000642.3(AGL):c.809dup (p.Ile271fs)
NM_000642.3(AGL):c.82+1G>A rs1354714214
NM_000642.3(AGL):c.82+1G>C
NM_000642.3(AGL):c.82+1G>T
NM_000642.3(AGL):c.82+2T>G
NM_000642.3(AGL):c.83-2A>G
NM_000642.3(AGL):c.842_846+29del
NM_000642.3(AGL):c.854del (p.Arg285fs) rs1553184620
NM_000642.3(AGL):c.861_864del (p.Ile288fs) rs1571243699
NM_000642.3(AGL):c.867G>A (p.Trp289Ter) rs1650926061
NM_000642.3(AGL):c.921del (p.Asn307fs) rs1571243862
NM_000642.3(AGL):c.947_948del (p.Leu316fs) rs1650934988
NM_000642.3(AGL):c.958+1G>C
NM_000642.3(AGL):c.967C>T (p.Arg323Ter) rs757987101
NM_000642.3(AGL):c.991C>T (p.Gln331Ter) rs1651353836
NM_000891.3(KCNJ2):c.200G>A (p.Arg67Gln) rs199473368
NM_000891.3(KCNJ2):c.211G>C (p.Asp71His) rs199473369
NM_000891.3(KCNJ2):c.407_409delinsTTT (p.Ser136_Ile137delinsPhePhe) rs864622292
NM_000891.3(KCNJ2):c.434A>G (p.Tyr145Cys) rs2074387117
NM_000891.3(KCNJ2):c.461G>A (p.Cys154Tyr) rs199473380
NM_000891.3(KCNJ2):c.557C>A (p.Pro186Gln) rs104894581
NM_000891.3(KCNJ2):c.566G>A (p.Arg189Lys) rs199473381
NM_000891.3(KCNJ2):c.598G>A (p.Val200Met)
NM_000891.3(KCNJ2):c.646A>T (p.Asn216Tyr) rs104894583
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp) rs104894578
NM_000891.3(KCNJ2):c.653G>C (p.Arg218Pro) rs199473384
NM_000891.3(KCNJ2):c.779G>A (p.Arg260His) rs199473385
NM_000891.3(KCNJ2):c.896A>G (p.Glu299Gly) rs786205817
NM_000891.3(KCNJ2):c.913A>G (p.Thr305Ala) rs199473387
NM_000891.3(KCNJ2):c.935G>A (p.Arg312His) rs786205820
NM_000891.3(KCNJ2):c.939_944del (p.Ser314_Tyr315del) rs2074390325
NM_000925.4(PDHB):c.121C>T (p.Gln41Ter)
NM_000925.4(PDHB):c.122_123del (p.Gln41fs)
NM_000925.4(PDHB):c.211C>T (p.Arg71Ter)
NM_000925.4(PDHB):c.303+1G>C
NM_000925.4(PDHB):c.304-1G>C
NM_000925.4(PDHB):c.310T>G (p.Leu104Val) rs201199166
NM_000925.4(PDHB):c.314G>A (p.Arg105Gln) rs868788199
NM_000925.4(PDHB):c.352C>T (p.Gln118Ter)
NM_000925.4(PDHB):c.41_43-12del
NM_000925.4(PDHB):c.469C>T (p.Gln157Ter)
NM_000925.4(PDHB):c.607G>T (p.Glu203Ter)
NM_000925.4(PDHB):c.716_717del (p.Val239fs)
NM_000925.4(PDHB):c.818del (p.Pro273fs)
NM_000925.4(PDHB):c.934+1G>A
NM_000925.4(PDHB):c.96+2T>C rs2107943571
NM_001008216.2(GALE):c.1004G>A (p.Arg335His)
NM_001008216.2(GALE):c.122-11_122-1del
NM_001008216.2(GALE):c.207C>A (p.Asp69Glu) rs1261697960
NM_001008216.2(GALE):c.351+1G>T rs1388106856
NM_001008216.2(GALE):c.351+2T>C
NM_001008216.2(GALE):c.408C>A (p.Tyr136Ter) rs727503943
NM_001008216.2(GALE):c.528+1G>A
NM_001008216.2(GALE):c.642+1G>A
NM_001008216.2(GALE):c.643-2A>C
NM_001008216.2(GALE):c.709+2_709+17del
NM_001008216.2(GALE):c.749del (p.Gly250fs) rs1570630665
NM_001008216.2(GALE):c.795+1G>A
NM_001008216.2(GALE):c.873+2T>C
NM_001040616.3(LINS1):c.1222+2T>C
NM_001040616.3(LINS1):c.1424_1425del (p.Gln475fs) rs2141262985
NM_001040616.3(LINS1):c.1605G>A (p.Trp535Ter)
NM_001040616.3(LINS1):c.1727_1736del (p.Arg576fs) rs2141261531
NM_001040616.3(LINS1):c.1921_1923delinsAC (p.Glu641fs)
NM_001040616.3(LINS1):c.2270T>A (p.Leu757Ter) rs1383641417
NM_001040616.3(LINS1):c.431del (p.Leu144fs) rs764442764
NM_001040616.3(LINS1):c.557_558del (p.Lys186fs) rs747412555
NM_001040616.3(LINS1):c.597del (p.Glu200fs) rs1198074890
NM_001040616.3(LINS1):c.631+1G>A
NM_001040616.3(LINS1):c.717C>A (p.Cys239Ter) rs1596891223
NM_001040616.3(LINS1):c.937G>A (p.Glu313Lys) rs1057519019
NM_001040716.2(PC):c.1022+1G>A rs1555025823
NM_001040716.2(PC):c.106_107delinsAGACAGT (p.Pro36fs)
NM_001040716.2(PC):c.1154_1155del (p.Arg385fs) rs1482845179
NM_001040716.2(PC):c.1216C>T (p.Arg406Cys) rs1358651584
NM_001040716.2(PC):c.1296_1304delinsGGCC (p.His432fs)
NM_001040716.2(PC):c.1351C>T (p.Arg451Cys) rs113994143
NM_001040716.2(PC):c.1357C>T (p.Arg453Ter) rs768514713
NM_001040716.2(PC):c.136+1G>T
NM_001040716.2(PC):c.1368+1G>A rs755640269
NM_001040716.2(PC):c.1369-1G>C rs2135822173
NM_001040716.2(PC):c.1372A>G (p.Asn458Asp) rs2135822119
NM_001040716.2(PC):c.1514-2A>G rs1945585636
NM_001040716.2(PC):c.1520del (p.Val507fs)
NM_001040716.2(PC):c.1526_1529del (p.Val509fs)
NM_001040716.2(PC):c.1533_1549del (p.Pro512fs)
NM_001040716.2(PC):c.1536_1537insG (p.Thr513fs)
NM_001040716.2(PC):c.1560del (p.Ser521fs)
NM_001040716.2(PC):c.1564_1565insAG (p.Pro522fs)
NM_001040716.2(PC):c.156dup (p.Phe53fs)
NM_001040716.2(PC):c.1574del (p.Thr525fs)
NM_001040716.2(PC):c.1621_1623delinsAT (p.Phe541fs)
NM_001040716.2(PC):c.1639C>T (p.Arg547Ter)
NM_001040716.2(PC):c.1745_1746del (p.Val582fs)
NM_001040716.2(PC):c.1799dup (p.Leu601fs)
NM_001040716.2(PC):c.1825+1G>A rs1565214970
NM_001040716.2(PC):c.1825+2T>G
NM_001040716.2(PC):c.1826-1G>C
NM_001040716.2(PC):c.1876C>T (p.Arg626Trp) rs1591122325
NM_001040716.2(PC):c.1980del (p.Phe660fs)
NM_001040716.2(PC):c.1983-116C>T rs2135805611
NM_001040716.2(PC):c.1989_1990dup (p.Glu664fs)
NM_001040716.2(PC):c.200_201del (p.Tyr67fs)
NM_001040716.2(PC):c.2113_2114del (p.Ser705fs)
NM_001040716.2(PC):c.2185del (p.Glu729fs)
NM_001040716.2(PC):c.220C>T (p.Gln74Ter)
NM_001040716.2(PC):c.2278C>T (p.Arg760Trp) rs563526275
NM_001040716.2(PC):c.2292del (p.Asp765fs)
NM_001040716.2(PC):c.2359dup (p.Ala787fs)
NM_001040716.2(PC):c.2369del (p.Gly790fs)
NM_001040716.2(PC):c.239_240insCTTGA (p.Asp81fs)
NM_001040716.2(PC):c.2413_2415delinsTGTATAAGAGACAG (p.Thr805fs)
NM_001040716.2(PC):c.2435C>A (p.Ala812Asp) rs2135798857
NM_001040716.2(PC):c.2473+1G>C rs1304770743
NM_001040716.2(PC):c.2473+2T>C
NM_001040716.2(PC):c.248_249insACTCACCCAAGAT (p.Tyr84fs)
NM_001040716.2(PC):c.2532_2533del (p.Tyr845fs)
NM_001040716.2(PC):c.2535C>A (p.Tyr845Ter)
NM_001040716.2(PC):c.2576C>A (p.Ser859Ter)
NM_001040716.2(PC):c.2591dup (p.Asn864fs)
NM_001040716.2(PC):c.2606G>A (p.Gly869Asp) rs1555015018
NM_001040716.2(PC):c.2606G>C (p.Gly869Ala) rs1555015018
NM_001040716.2(PC):c.2674A>T (p.Lys892Ter)
NM_001040716.2(PC):c.2695del (p.Gln899fs)
NM_001040716.2(PC):c.2800C>T (p.Gln934Ter)
NM_001040716.2(PC):c.2804_2805del (p.Ala935fs)
NM_001040716.2(PC):c.280C>T (p.Gln94Ter)
NM_001040716.2(PC):c.281_282insCCTT (p.Gln94fs)
NM_001040716.2(PC):c.2866dup (p.His956fs)
NM_001040716.2(PC):c.2898+2T>C rs2135791416
NM_001040716.2(PC):c.2898+2_2898+5del
NM_001040716.2(PC):c.295del (p.Ile99fs)
NM_001040716.2(PC):c.2971G>T (p.Glu991Ter)
NM_001040716.2(PC):c.3089del (p.Leu1030fs)
NM_001040716.2(PC):c.3141_3142delinsA (p.Phe1048fs) rs1555014332
NM_001040716.2(PC):c.3146_3147+1del
NM_001040716.2(PC):c.3147+2T>C rs2135788673
NM_001040716.2(PC):c.322-2A>G rs2135940951
NM_001040716.2(PC):c.3284dup (p.Met1095fs)
NM_001040716.2(PC):c.329dup (p.Asn110fs)
NM_001040716.2(PC):c.3306dup (p.Lys1103fs) rs1324931037
NM_001040716.2(PC):c.3359_3362dup (p.Ile1123fs) rs1555013840
NM_001040716.2(PC):c.3409_3410del (p.Leu1137fs) rs113994148
NM_001040716.2(PC):c.342_343insTTATATT (p.His115fs)
NM_001040716.2(PC):c.44del (p.Gly15fs)
NM_001040716.2(PC):c.52C>T (p.Arg18Ter) rs144583275
NM_001040716.2(PC):c.584C>T (p.Ala195Val) rs1436643226
NM_001040716.2(PC):c.597_606delinsAA (p.Gly200fs)
NM_001040716.2(PC):c.634-1G>A
NM_001040716.2(PC):c.706G>T (p.Glu236Ter)
NM_001040716.2(PC):c.731_732insGGCTTGGGATGGAG (p.His244fs)
NM_001040716.2(PC):c.736G>A (p.Glu246Lys)
NM_001040716.2(PC):c.764_765del (p.Gly255fs)
NM_001040716.2(PC):c.788G>A (p.Arg263Gln) rs769177104
NM_001040716.2(PC):c.796T>G (p.Ser266Ala) rs113994142
NM_001040716.2(PC):c.815A>G (p.Gln272Arg) rs1591186383
NM_001040716.2(PC):c.885_888del (p.Val296fs)
NM_001040716.2(PC):c.88del (p.Arg30fs)
NM_001040716.2(PC):c.903+2T>A rs1946669738
NM_001040716.2(PC):c.908del (p.Gly303fs)
NM_001041.4(SI):c.2159+2T>G rs1553775177
NM_001041.4(SI):c.2426+1G>A
NM_001041.4(SI):c.2654_2657del (p.Asp885fs) rs1221816681
NM_001041.4(SI):c.2737-1G>C rs1294620045
NM_001041.4(SI):c.2865C>A (p.Cys955Ter) rs2108202378
NM_001041.4(SI):c.3186_3187del (p.Leu1062_Tyr1063insTer) rs776569472
NM_001041.4(SI):c.570T>A (p.Tyr190Ter)
NM_001041.4(SI):c.635+2T>C rs1185991890
NM_001041.4(SI):c.853G>T (p.Glu285Ter) rs758259365
NM_001042351.1(G6PD):c.[317C>G;544C>T;592C>T]
NM_001042351.1(G6PD):c.[376A>G;542A>T]
NM_001080510.5(METTL23):c.126del (p.Lys42fs) rs2143866789
NM_001080510.5(METTL23):c.174_177del (p.Cys58fs) rs746453662
NM_001080510.5(METTL23):c.204_207del (p.Met68fs)
NM_001080510.5(METTL23):c.409del (p.Ala137fs)
NM_001136035.4(TRMT1):c.1161_1162del (p.Cys387fs)
NM_001136035.4(TRMT1):c.1487G>A (p.Trp496Ter) rs2145578013
NM_001136035.4(TRMT1):c.1534C>T (p.Arg512Ter) rs751298016
NM_001136035.4(TRMT1):c.232C>T (p.Gln78Ter) rs2019344087
NM_001136035.4(TRMT1):c.24_33del (p.Leu10fs) rs750785552
NM_001136035.4(TRMT1):c.311-1G>A rs2019322057
NM_001136035.4(TRMT1):c.35del (p.Phe12fs)
NM_001136035.4(TRMT1):c.389_390del (p.Lys130fs) rs868289171
NM_001160372.4(TRAPPC9):c.151C>T (p.Arg51Ter) rs2071449158
NM_001160372.4(TRAPPC9):c.1623-1G>A
NM_001160372.4(TRAPPC9):c.1675dup (p.Ser559fs)
NM_001160372.4(TRAPPC9):c.1928del (p.Tyr643fs)
NM_001160372.4(TRAPPC9):c.2173C>T (p.Gln725Ter)
NM_001160372.4(TRAPPC9):c.239T>C (p.Leu80Pro) rs2132705299
NM_001160372.4(TRAPPC9):c.2815dup (p.Ala939fs)
NM_001160372.4(TRAPPC9):c.2890A>G (p.Lys964Glu) rs1357591960
NM_001160372.4(TRAPPC9):c.2920C>T (p.Arg974Ter)
NM_001164277.2(SLC37A4):c.1016G>A (p.Gly339Asp) rs121908980
NM_001164277.2(SLC37A4):c.1019_1038del (p.Phe340fs) rs1943525176
NM_001164277.2(SLC37A4):c.1063_1064insTTGGG (p.Glu355fs)
NM_001164277.2(SLC37A4):c.1065del (p.Ser356fs)
NM_001164277.2(SLC37A4):c.1082del (p.Leu361fs)
NM_001164277.2(SLC37A4):c.1110_1117dup (p.Ala373fs)
NM_001164277.2(SLC37A4):c.1124+3_1124+6del rs782612223
NM_001164277.2(SLC37A4):c.1125-1G>A rs782202675
NM_001164277.2(SLC37A4):c.1149del (p.Phe384fs)
NM_001164277.2(SLC37A4):c.1267C>T (p.Arg423Ter) rs2134626266
NM_001164277.2(SLC37A4):c.1287_1290del (p.Ter430GluextTer?) rs1592107594
NM_001164277.2(SLC37A4):c.148+1G>A rs1943672400
NM_001164277.2(SLC37A4):c.148+2T>A
NM_001164277.2(SLC37A4):c.148+2T>C rs1449998297
NM_001164277.2(SLC37A4):c.148G>A (p.Gly50Arg)
NM_001164277.2(SLC37A4):c.163A>C (p.Ser55Arg) rs193302884
NM_001164277.2(SLC37A4):c.195dup (p.Val66fs)
NM_001164277.2(SLC37A4):c.202G>A (p.Gly68Arg) rs193302885
NM_001164277.2(SLC37A4):c.234G>A (p.Trp78Ter) rs781857990
NM_001164277.2(SLC37A4):c.248G>A (p.Gly83Glu) rs2134640168
NM_001164277.2(SLC37A4):c.269_270insTGGCTCCTGGT (p.Asn91fs) rs1555191580
NM_001164277.2(SLC37A4):c.276dup (p.Phe93fs) rs1555191573
NM_001164277.2(SLC37A4):c.344G>A (p.Gly115Glu)
NM_001164277.2(SLC37A4):c.344_345dup (p.Leu116fs) rs782604758
NM_001164277.2(SLC37A4):c.356_359dup (p.Cys121fs)
NM_001164277.2(SLC37A4):c.365G>A (p.Gly122Glu)
NM_001164277.2(SLC37A4):c.370del (p.Val124fs) rs1555191512
NM_001164277.2(SLC37A4):c.381+1G>A rs786204637
NM_001164277.2(SLC37A4):c.382-1G>T
NM_001164277.2(SLC37A4):c.382-1del rs1555191406
NM_001164277.2(SLC37A4):c.382-2A>G
NM_001164277.2(SLC37A4):c.530_531dup (p.Val178fs)
NM_001164277.2(SLC37A4):c.572C>T (p.Pro191Leu) rs193302888
NM_001164277.2(SLC37A4):c.595del (p.Leu199fs) rs1474282972
NM_001164277.2(SLC37A4):c.59dup (p.Tyr21fs) rs1943676862
NM_001164277.2(SLC37A4):c.637del (p.Glu213fs)
NM_001164277.2(SLC37A4):c.649delinsGG (p.Leu217fs)
NM_001164277.2(SLC37A4):c.671dup (p.Tyr225fs)
NM_001164277.2(SLC37A4):c.676del (p.Leu226fs) rs1555191105
NM_001164277.2(SLC37A4):c.681G>A (p.Trp227Ter) rs2134635160
NM_001164277.2(SLC37A4):c.703GTG[1] (p.Val236del) rs121908977
NM_001164277.2(SLC37A4):c.708_709dup (p.Phe237fs) rs781869215
NM_001164277.2(SLC37A4):c.70T>C (p.Tyr24His) rs193302887
NM_001164277.2(SLC37A4):c.736T>C (p.Trp246Arg) rs193302878
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs) rs1447366650
NM_001164277.2(SLC37A4):c.785+2T>G rs1592111559
NM_001164277.2(SLC37A4):c.786-1G>A rs1943578039
NM_001164277.2(SLC37A4):c.786-2A>C
NM_001164277.2(SLC37A4):c.786-2A>G rs2134633880
NM_001164277.2(SLC37A4):c.788G>A (p.Ser263Asn)
NM_001164277.2(SLC37A4):c.805del (p.Leu269fs) rs1555190992
NM_001164277.2(SLC37A4):c.838G>C (p.Ala280Pro) rs1555190969
NM_001164277.2(SLC37A4):c.845_848del (p.Tyr282fs) rs1555190956
NM_001164277.2(SLC37A4):c.871+1G>A
NM_001164277.2(SLC37A4):c.872-1G>A
NM_001164277.2(SLC37A4):c.872-2A>C rs920196110
NM_001164277.2(SLC37A4):c.872-8_881del
NM_001164277.2(SLC37A4):c.882dup (p.Asn295fs)
NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His) rs193302903
NM_001164277.2(SLC37A4):c.902A>C (p.His301Pro) rs193302891
NM_001164277.2(SLC37A4):c.912_913insGC (p.Leu305fs) rs1555190745
NM_001164277.2(SLC37A4):c.923_934dup (p.Met308_Met311dup) rs786204477
NM_001164277.2(SLC37A4):c.92_94del (p.Phe31del) rs1432360280
NM_001164277.2(SLC37A4):c.935_936del (p.Thr312fs)
NM_001164277.2(SLC37A4):c.963_964del (p.Val322fs) rs1592109970
NM_001164277.2(SLC37A4):c.969_975del (p.Ser324fs)
NM_001164277.2(SLC37A4):c.976dup (p.Ser326fs) rs2134631242
NM_001164277.2(SLC37A4):c.981del (p.Lys328fs) rs1001301633
NM_001164277.2(SLC37A4):c.985+1G>A rs1943553565
NM_001164277.2(SLC37A4):c.986-1G>A
NM_001164277.2(SLC37A4):c.986-3_989del rs1555190559
NM_001195553.2(DCX):c.288C>A (p.Asn96Lys) rs1556405057
NM_001243177.4(ALDOA):c.1001C>T (p.Ala334Val) rs2151019295
NM_001243177.4(ALDOA):c.1178G>A (p.Cys393Tyr) rs2151019809
NM_001352514.2(HLCS):c.1016_1017del (p.Ile339fs)
NM_001352514.2(HLCS):c.1041del (p.Leu348fs)
NM_001352514.2(HLCS):c.1045G>T (p.Glu349Ter) rs148324626
NM_001352514.2(HLCS):c.1045del (p.Glu349fs)
NM_001352514.2(HLCS):c.1063_1064del (p.Asp355fs)
NM_001352514.2(HLCS):c.1083T>A (p.Cys361Ter)
NM_001352514.2(HLCS):c.1132C>T (p.Gln378Ter) rs1481968221
NM_001352514.2(HLCS):c.1133del (p.Gln378fs)
NM_001352514.2(HLCS):c.1151T>C (p.Leu384Pro) rs119103227
NM_001352514.2(HLCS):c.1151T>G (p.Leu384Arg) rs119103227
NM_001352514.2(HLCS):c.1163G>C (p.Gly388Ala) rs1057516035
NM_001352514.2(HLCS):c.1219_1222dup (p.Gly408fs)
NM_001352514.2(HLCS):c.1223dup (p.Ala409fs)
NM_001352514.2(HLCS):c.1250T>A (p.Leu417Ter) rs2066894484
NM_001352514.2(HLCS):c.1275_1283delinsTGAGCACT (p.Val427fs)
NM_001352514.2(HLCS):c.1276G>T (p.Glu426Ter)
NM_001352514.2(HLCS):c.1289del (p.Ser430fs)
NM_001352514.2(HLCS):c.1302_1303insC (p.Gly435fs)
NM_001352514.2(HLCS):c.1315del (p.Gln439fs)
NM_001352514.2(HLCS):c.1326del (p.Val443fs)
NM_001352514.2(HLCS):c.1351C>T (p.Gln451Ter)
NM_001352514.2(HLCS):c.1358_1359del (p.His453fs)
NM_001352514.2(HLCS):c.1404del (p.Phe468fs)
NM_001352514.2(HLCS):c.1418dup (p.Glu474fs) rs1555955827
NM_001352514.2(HLCS):c.1434C>A (p.Cys478Ter) rs2066882139
NM_001352514.2(HLCS):c.1437+1G>A
NM_001352514.2(HLCS):c.1439T>A (p.Val480Glu) rs1198548955
NM_001352514.2(HLCS):c.1466_1472delinsGCA (p.Asn489fs)
NM_001352514.2(HLCS):c.1524C>G (p.Tyr508Ter)
NM_001352514.2(HLCS):c.1550_1551insT (p.Leu518fs)
NM_001352514.2(HLCS):c.1576C>T (p.Gln526Ter) rs1393866282
NM_001352514.2(HLCS):c.1600_1604del (p.Tyr534fs)
NM_001352514.2(HLCS):c.1610C>A (p.Ser537Ter)
NM_001352514.2(HLCS):c.1620+1G>A rs1555951858
NM_001352514.2(HLCS):c.1621-1G>C rs1164174059
NM_001352514.2(HLCS):c.1621-2A>T
NM_001352514.2(HLCS):c.1631del (p.Asp544fs)
NM_001352514.2(HLCS):c.1642C>T (p.Gln548Ter) rs2065045000
NM_001352514.2(HLCS):c.1646G>A (p.Trp549Ter) rs1342457304
NM_001352514.2(HLCS):c.1658_1659del (p.His553fs)
NM_001352514.2(HLCS):c.1699_1700del (p.Ser566_Leu567insTer) rs1555930523
NM_001352514.2(HLCS):c.1705_1733dup (p.Glu578delinsAspLeuPheHisProThrCysLeuLysTer)
NM_001352514.2(HLCS):c.1719C>A (p.Tyr573Ter) rs148814769
NM_001352514.2(HLCS):c.1752_1759delinsTTT (p.Pro585fs)
NM_001352514.2(HLCS):c.1759_1760insCC (p.Val587fs)
NM_001352514.2(HLCS):c.1771G>T (p.Glu591Ter) rs2065038117
NM_001352514.2(HLCS):c.1781C>G (p.Ser594Ter) rs973578825
NM_001352514.2(HLCS):c.1858_1868del (p.Glu620fs)
NM_001352514.2(HLCS):c.1869del (p.Thr624fs) rs2065031709
NM_001352514.2(HLCS):c.1892+1G>A
NM_001352514.2(HLCS):c.1902_1903del (p.Phe634fs)
NM_001352514.2(HLCS):c.1942del (p.Arg648fs)
NM_001352514.2(HLCS):c.1957A>T (p.Lys653Ter) rs2090069178
NM_001352514.2(HLCS):c.1960+1G>A rs2090068896
NM_001352514.2(HLCS):c.1961-2A>G
NM_001352514.2(HLCS):c.1974T>A (p.Asn658Lys)
NM_001352514.2(HLCS):c.2044G>T (p.Gly682Ter) rs1324486146
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met) rs119103231
NM_001352514.2(HLCS):c.2092del (p.Glu698fs)
NM_001352514.2(HLCS):c.2114_2121+5del
NM_001352514.2(HLCS):c.2185G>A (p.Gly729Arg)
NM_001352514.2(HLCS):c.2201C>G (p.Ser734Ter) rs2089755918
NM_001352514.2(HLCS):c.2237-2A>G
NM_001352514.2(HLCS):c.2237-56_2255del rs2145732111
NM_001352514.2(HLCS):c.2280dup (p.Asn761fs) rs1555882068
NM_001352514.2(HLCS):c.2341G>T (p.Asp781Tyr)
NM_001352514.2(HLCS):c.2450+2T>A
NM_001352514.2(HLCS):c.331-1G>C
NM_001352514.2(HLCS):c.476dup (p.Pro160fs)
NM_001352514.2(HLCS):c.494-1G>A
NM_001352514.2(HLCS):c.494-2A>T
NM_001352514.2(HLCS):c.513dup (p.Thr172fs)
NM_001352514.2(HLCS):c.542C>A (p.Ser181Ter) rs2066942076
NM_001352514.2(HLCS):c.569_585delinsTTGCTTGAGATTAAGCCTGAGATTAAGG (p.Pro190_Ser195delinsLeuAlaTer) rs1064796014
NM_001352514.2(HLCS):c.616del (p.Glu206fs)
NM_001352514.2(HLCS):c.664_667del (p.Gln222fs) rs776431253
NM_001352514.2(HLCS):c.687del (p.Ser230fs)
NM_001352514.2(HLCS):c.726dup (p.Val243fs)
NM_001352514.2(HLCS):c.759C>A (p.Cys253Ter)
NM_001352514.2(HLCS):c.774_775insTGTTCTCGGCAGACGCAAA (p.Leu259fs)
NM_001352514.2(HLCS):c.794_795del (p.Glu265fs)
NM_001352514.2(HLCS):c.821_822insTTCCATTG (p.Ile275fs)
NM_001352514.2(HLCS):c.840C>A (p.Tyr280Ter) rs779907293
NM_001352514.2(HLCS):c.857T>A (p.Leu286Ter) rs144572349
NM_001352514.2(HLCS):c.857del (p.Leu286fs)
NM_001352514.2(HLCS):c.863del (p.Ser288fs) rs1015594025
NM_001352514.2(HLCS):c.886G>T (p.Glu296Ter) rs760029192
NM_001352514.2(HLCS):c.929del (p.Asn310fs)
NM_001352514.2(HLCS):c.958del (p.Gln320fs)
NM_001352514.2(HLCS):c.958dup (p.Gln320fs)
NM_001352514.2(HLCS):c.978_979insTGTCTCTTATACACAT (p.His327fs)
NM_001358263.1(HK1):c.1A>G (p.Met1Val) rs1589439508
NM_001358263.1(HK1):c.1A>T (p.Met1Leu) rs1589439508
NM_001360016.2(G6PD):c.1006A>G (p.Thr336Ala)
NM_001360016.2(G6PD):c.102CAT[2] (p.Ile36del) rs137852338
NM_001360016.2(G6PD):c.1030G>A (p.Val344Met)
NM_001360016.2(G6PD):c.1052G>T (p.Gly351Val)
NM_001360016.2(G6PD):c.1063A>G (p.Ile355Val)
NM_001360016.2(G6PD):c.1067T>A (p.Leu356Gln)
NM_001360016.2(G6PD):c.1081G>A (p.Ala361Thr)
NM_001360016.2(G6PD):c.1084_1101del (p.Leu362_Ala367del)
NM_001360016.2(G6PD):c.1088A>T (p.Asn363Ile) rs1557229736
NM_001360016.2(G6PD):c.1094G>A (p.Arg365His)
NM_001360016.2(G6PD):c.1132G>A (p.Gly378Ser)
NM_001360016.2(G6PD):c.1141T>C (p.Phe381Leu)
NM_001360016.2(G6PD):c.1154G>T (p.Cys385Phe)
NM_001360016.2(G6PD):c.1166A>G (p.Glu389Gly)
NM_001360016.2(G6PD):c.1175T>C (p.Ile392Thr)
NM_001360016.2(G6PD):c.1177C>T (p.Arg393Cys) rs2148328873
NM_001360016.2(G6PD):c.1193A>G (p.Glu398Gly)
NM_001360016.2(G6PD):c.1229G>C (p.Gly410Ala)
NM_001360016.2(G6PD):c.1291G>A (p.Val431Met)
NM_001360016.2(G6PD):c.1315C>T (p.Arg439Cys) rs2148328604
NM_001360016.2(G6PD):c.1318C>T (p.Leu440Phe) rs1557229599
NM_001360016.2(G6PD):c.1330G>A (p.Val444Ile)
NM_001360016.2(G6PD):c.1340G>T (p.Gly447Val)
NM_001360016.2(G6PD):c.1342A>G (p.Ser448Gly)
NM_001360016.2(G6PD):c.1346A>G (p.Gln449Arg)
NM_001360016.2(G6PD):c.1351C>T (p.His451Tyr)
NM_001360016.2(G6PD):c.1358T>A (p.Val453Glu)
NM_001360016.2(G6PD):c.1361G>T (p.Arg454Leu)
NM_001360016.2(G6PD):c.1366G>C (p.Asp456His)
NM_001360016.2(G6PD):c.1367A>T (p.Asp456Val)
NM_001360016.2(G6PD):c.1372C>T (p.Leu458Phe)
NM_001360016.2(G6PD):c.1375C>G (p.Arg459Gly)
NM_001360016.2(G6PD):c.1375C>T (p.Arg459Cys) rs2070346788
NM_001360016.2(G6PD):c.1376G>A (p.Arg459His) rs72554665
NM_001360016.2(G6PD):c.1380G>C (p.Glu460Asp)
NM_001360016.2(G6PD):c.1381G>A (p.Ala461Thr)
NM_001360016.2(G6PD):c.1387C>A (p.Arg463Ser)
NM_001360016.2(G6PD):c.1387C>T (p.Arg463Cys)
NM_001360016.2(G6PD):c.1441C>G (p.Pro481Ala) rs202122673
NM_001360016.2(G6PD):c.1457+7_1458-43del
NM_001360016.2(G6PD):c.148C>T (p.Pro50Ser)
NM_001360016.2(G6PD):c.1490_1492del (p.Lys497del)
NM_001360016.2(G6PD):c.152C>T (p.Thr51Ile) rs2148332084
NM_001360016.2(G6PD):c.170G>A (p.Arg57Gln)
NM_001360016.2(G6PD):c.179T>C (p.Leu60Pro)
NM_001360016.2(G6PD):c.185C>A (p.Pro62His)
NM_001360016.2(G6PD):c.185C>T (p.Pro62Leu)
NM_001360016.2(G6PD):c.187G>A (p.Glu63Lys)
NM_001360016.2(G6PD):c.193A>G (p.Thr65Ala) rs199474830
NM_001360016.2(G6PD):c.197T>G (p.Phe66Cys)
NM_001360016.2(G6PD):c.219C>T (p.Ser73=)
NM_001360016.2(G6PD):c.224T>C (p.Leu75Pro)
NM_001360016.2(G6PD):c.227C>A (p.Thr76Lys)
NM_001360016.2(G6PD):c.235G>C (p.Asp79His) rs2148331875
NM_001360016.2(G6PD):c.274C>T (p.Pro92Ser)
NM_001360016.2(G6PD):c.290A>T (p.Lys97Met)
NM_001360016.2(G6PD):c.305T>C (p.Phe102Ser) rs886044847
NM_001360016.2(G6PD):c.312C>T (p.Arg104=)
NM_001360016.2(G6PD):c.34G>T (p.Val12Leu)
NM_001360016.2(G6PD):c.352T>C (p.Tyr118His)
NM_001360016.2(G6PD):c.353A>C (p.Tyr118Ser) rs2148331380
NM_001360016.2(G6PD):c.356A>C (p.Gln119Pro)
NM_001360016.2(G6PD):c.371A>G (p.His124Arg)
NM_001360016.2(G6PD):c.376A>T (p.Asn126Tyr) rs1050829
NM_001360016.2(G6PD):c.383T>G (p.Leu128Arg) rs78365220
NM_001360016.2(G6PD):c.407G>A (p.Arg136His)
NM_001360016.2(G6PD):c.409C>T (p.Leu137Phe)
NM_001360016.2(G6PD):c.442G>A (p.Glu148Lys)
NM_001360016.2(G6PD):c.448G>A (p.Val150Ile) rs1557230573
NM_001360016.2(G6PD):c.463C>G (p.His155Asp)
NM_001360016.2(G6PD):c.464A>C (p.His155Pro)
NM_001360016.2(G6PD):c.473G>A (p.Cys158Tyr)
NM_001360016.2(G6PD):c.485+184del
NM_001360016.2(G6PD):c.486-17C>T
NM_001360016.2(G6PD):c.486-17del
NM_001360016.2(G6PD):c.488G>A (p.Gly163Asp)
NM_001360016.2(G6PD):c.496C>T (p.Arg166Cys)
NM_001360016.2(G6PD):c.497G>A (p.Arg166His)
NM_001360016.2(G6PD):c.514C>T (p.Pro172Ser)
NM_001360016.2(G6PD):c.527A>G (p.Asp176Gly)
NM_001360016.2(G6PD):c.573C>G (p.Phe191Leu)
NM_001360016.2(G6PD):c.585G>C (p.Gln195His)
NM_001360016.2(G6PD):c.586A>T (p.Ile196Phe)
NM_001360016.2(G6PD):c.592C>A (p.Arg198Ser)
NM_001360016.2(G6PD):c.595A>G (p.Ile199Val)
NM_001360016.2(G6PD):c.598G>A (p.Asp200Asn)
NM_001360016.2(G6PD):c.611G>A (p.Gly204Asp) rs2148330566
NM_001360016.2(G6PD):c.634A>G (p.Met212Val)
NM_001360016.2(G6PD):c.655A>G (p.Arg219Gly)
NM_001360016.2(G6PD):c.683ACA[1] (p.Asn229del)
NM_001360016.2(G6PD):c.691G>C (p.Ala231Pro)
NM_001360016.2(G6PD):c.695G>A (p.Cys232Tyr)
NM_001360016.2(G6PD):c.697G>C (p.Val233Leu)
NM_001360016.2(G6PD):c.725_730del (p.Gly242_Thr243del)
NM_001360016.2(G6PD):c.737G>T (p.Arg246Leu)
NM_001360016.2(G6PD):c.739G>A (p.Gly247Arg)
NM_001360016.2(G6PD):c.743G>A (p.Gly248Asp)
NM_001360016.2(G6PD):c.769C>G (p.Arg257Gly) rs2070375134
NM_001360016.2(G6PD):c.770G>T (p.Arg257Leu)
NM_001360016.2(G6PD):c.7G>A (p.Glu3Lys)
NM_001360016.2(G6PD):c.811G>C (p.Val271Leu)
NM_001360016.2(G6PD):c.820G>A (p.Glu274Lys)
NM_001360016.2(G6PD):c.821A>T (p.Glu274Val)
NM_001360016.2(G6PD):c.825G>C (p.Lys275Asn)
NM_001360016.2(G6PD):c.826C>T (p.Pro276Ser)
NM_001360016.2(G6PD):c.832T>C (p.Ser278Pro)
NM_001360016.2(G6PD):c.833C>T (p.Ser278Phe)
NM_001360016.2(G6PD):c.835A>G (p.Thr279Ala)
NM_001360016.2(G6PD):c.835A>T (p.Thr279Ser) rs2148329890
NM_001360016.2(G6PD):c.844G>T (p.Asp282Tyr)
NM_001360016.2(G6PD):c.851T>C (p.Val284Ala)
NM_001360016.2(G6PD):c.853C>T (p.Arg285Cys)
NM_001360016.2(G6PD):c.864+43G>A
NM_001360016.2(G6PD):c.864+44del
NM_001360016.2(G6PD):c.910G>T (p.Val304Phe)
NM_001360016.2(G6PD):c.920A>C (p.Gln307Pro)
NM_001360016.2(G6PD):c.921G>C (p.Gln307His)
NM_001360016.2(G6PD):c.94C>G (p.His32Asp)
NM_001360016.2(G6PD):c.94C>T (p.His32Tyr) rs2070702973
NM_001360016.2(G6PD):c.962G>A (p.Gly321Glu)
NM_001360016.2(G6PD):c.995C>T (p.Ser332Phe)
NM_001360016.2(G6PD):c.[1037A>T;637G>T]
NM_001360016.2(G6PD):c.[1048G>C;406C>T]
NM_001360016.2(G6PD):c.[1159C>T;376A>G]
NM_001360016.2(G6PD):c.[1264C>G;202G>A376A>G]
NM_001360016.2(G6PD):c.[1347G>C;1360C>T]
NM_001360016.2(G6PD):c.[1376G>T;1502T>G]
NM_001360016.2(G6PD):c.[143T>C;202G>A]
NM_001360016.2(G6PD):c.[143T>C;563C>T]
NM_001360016.2(G6PD):c.[202G>A;871G>A]
NM_001360016.2(G6PD):c.[375G>T;379G>T383T>C384C>T]
NM_001360016.2(G6PD):c.[376A>G;463C>G]
NM_001360016.2(G6PD):c.[376A>G;680G>T]
NM_001360016.2(G6PD):c.[376A>G;871G>A]
NM_001360016.2(G6PD):c.[769C>A;770G>T]
NM_001365304.2(LOC112694756):c.*1133+2T>C
NM_001365304.2(LOC112694756):c.*1134-2A>G
NM_001367721.1(CASK):c.2317+5G>A rs2147095645
NM_001370658.1(BTD):c.-17+1G>A rs1057516440
NM_001370658.1(BTD):c.-17+1G>C rs1057516440
NM_001370658.1(BTD):c.-17+1G>T rs1057516440
NM_001370658.1(BTD):c.-17+1del rs1057517114
NM_001370658.1(BTD):c.-17_-17+3del rs1050514843
NM_001370658.1(BTD):c.-18A>T rs143058480
NM_001370658.1(BTD):c.-24A>T
NM_001370658.1(BTD):c.1025T>A (p.Leu342Ter) rs747548016
NM_001370658.1(BTD):c.1069G>T (p.Glu357Ter) rs1057516252
NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter) rs397514434
NM_001370658.1(BTD):c.1110_1111dup (p.Pro371fs) rs1057517256
NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs) rs672601248
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del) rs397514404
NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg) rs397514408
NM_001370658.1(BTD):c.1211G>A (p.Cys404Tyr) rs397514335
NM_001370658.1(BTD):c.1247_1248del (p.Glu416fs) rs1057517225
NM_001370658.1(BTD):c.1252T>C (p.Tyr418His)
NM_001370658.1(BTD):c.1253A>G (p.Tyr418Cys) rs397514415
NM_001370658.1(BTD):c.1254T>A (p.Tyr418Ter) rs397514416
NM_001370658.1(BTD):c.1259T>C (p.Leu420Pro) rs1575031012
NM_001370658.1(BTD):c.125T>C (p.Val42Ala)
NM_001370658.1(BTD):c.1264del (p.Val422fs) rs1057517362
NM_001370658.1(BTD):c.1271A>G (p.Asp424Gly) rs2065662435
NM_001370658.1(BTD):c.1279C>T (p.His427Tyr) rs397514418
NM_001370658.1(BTD):c.1292_1293del (p.Gly431fs) rs1553654142
NM_001370658.1(BTD):c.1298dup (p.Tyr433Ter) rs1553654145
NM_001370658.1(BTD):c.1300T>G (p.Tyr434Asp)
NM_001370658.1(BTD):c.1309G>T (p.Val437Leu) rs146600671
NM_001370658.1(BTD):c.1334dup (p.Leu446fs) rs397514440
NM_001370658.1(BTD):c.1350dup (p.Cys451fs) rs886041559
NM_001370658.1(BTD):c.1352G>T (p.Cys451Phe)
NM_001370658.1(BTD):c.1372G>C (p.Ala458Pro) rs181396238
NM_001370658.1(BTD):c.1386dup (p.Glu463Ter)
NM_001370658.1(BTD):c.1387G>T (p.Glu463Ter) rs1559600871
NM_001370658.1(BTD):c.1396_1415del (p.Leu466fs) rs1553654178
NM_001370658.1(BTD):c.1399del (p.Trp467fs) rs397514423
NM_001370658.1(BTD):c.1400G>A (p.Trp467Ter) rs1277029090
NM_001370658.1(BTD):c.1401G>A (p.Trp467Ter) rs1553654186
NM_001370658.1(BTD):c.1406A>G (p.Asn469Ser)
NM_001370658.1(BTD):c.1415C>T (p.Thr472Ile) rs796051941
NM_001370658.1(BTD):c.1419del (p.Tyr474fs) rs1559600938
NM_001370658.1(BTD):c.142_145dup (p.Leu49fs) rs1205964567
NM_001370658.1(BTD):c.1466C>G (p.Pro489Arg) rs1559601041
NM_001370658.1(BTD):c.1495dup (p.Tyr499fs) rs1553654220
NM_001370658.1(BTD):c.1503del (p.Arg502fs) rs1163419871
NM_001370658.1(BTD):c.1550G>A (p.Gly517Glu) rs397514428
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser) rs80338686
NM_001370658.1(BTD):c.1568A>G (p.Asp523Gly) rs1050035768
NM_001370658.1(BTD):c.167del (p.Leu56fs)
NM_001370658.1(BTD):c.177_178del (p.Gln60fs)
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys) rs397514348
NM_001370658.1(BTD):c.220G>T (p.Glu74Ter)
NM_001370658.1(BTD):c.229G>A (p.Val77Met)
NM_001370658.1(BTD):c.238G>A (p.Ala80Thr) rs397514350
NM_001370658.1(BTD):c.250-1G>T rs1553653053
NM_001370658.1(BTD):c.253G>A (p.Val85Ile)
NM_001370658.1(BTD):c.256C>T (p.Gln86Ter) rs1553653062
NM_001370658.1(BTD):c.270del (p.Pro91fs)
NM_001370658.1(BTD):c.274G>C (p.Glu92Gln) rs397514352
NM_001370658.1(BTD):c.312_315dup (p.Tyr106fs) rs1057516223
NM_001370658.1(BTD):c.333del (p.Phe111fs) rs397514356
NM_001370658.1(BTD):c.364C>A (p.Pro122Thr) rs397514357
NM_001370658.1(BTD):c.364C>T (p.Pro122Ser)
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001370658.1(BTD):c.399G>A (p.Glu133=) rs397514360
NM_001370658.1(BTD):c.416G>A (p.Ser139Asn) rs144717999
NM_001370658.1(BTD):c.419G>A (p.Cys140Tyr)
NM_001370658.1(BTD):c.419G>C (p.Cys140Ser)
NM_001370658.1(BTD):c.41_44del (p.Gly14fs) rs1249246307
NM_001370658.1(BTD):c.44_45del (p.Cys15fs) rs750965140
NM_001370658.1(BTD):c.466A>T (p.Lys156Ter)
NM_001370658.1(BTD):c.47dup (p.Tyr16Ter) rs1057516812
NM_001370658.1(BTD):c.496T>C (p.Cys166Arg) rs955385869
NM_001370658.1(BTD):c.496T>G (p.Cys166Gly) rs955385869
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu) rs750363004
NM_001370658.1(BTD):c.524A>G (p.Asn175Ser) rs397514371
NM_001370658.1(BTD):c.527del (p.Thr176fs) rs1553653680
NM_001370658.1(BTD):c.528_542del (p.Val178_Asn182del) rs1575029290
NM_001370658.1(BTD):c.52del (p.Val18fs)
NM_001370658.1(BTD):c.545A>T (p.Asn182Ile) rs397514376
NM_001370658.1(BTD):c.550G>A (p.Gly184Arg)
NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys) rs397507174
NM_001370658.1(BTD):c.589_591delinsAGTA (p.Phe197fs) rs1553653732
NM_001370658.1(BTD):c.58_59del (p.Leu20fs) rs1553652080
NM_001370658.1(BTD):c.594G>C (p.Glu198Asp) rs397514379
NM_001370658.1(BTD):c.59T>C (p.Leu20Pro)
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr) rs397514380
NM_001370658.1(BTD):c.640A>G (p.Thr214Ala)
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile) rs587783005
NM_001370658.1(BTD):c.675C>A (p.Cys225Ter)
NM_001370658.1(BTD):c.682A>C (p.Ile228Leu) rs398123140
NM_001370658.1(BTD):c.698C>T (p.Pro233Leu) rs397514438
NM_001370658.1(BTD):c.705C>G (p.Ile235Met) rs1575029719
NM_001370658.1(BTD):c.710T>A (p.Val237Asp) rs1190721481
NM_001370658.1(BTD):c.755G>A (p.Trp252Ter) rs148031701
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro) rs397514389
NM_001370658.1(BTD):c.799del (p.Ala267fs)
NM_001370658.1(BTD):c.806C>T (p.Ala269Val) rs1057520533
NM_001370658.1(BTD):c.827T>G (p.Val276Gly) rs397514391
NM_001370658.1(BTD):c.835G>C (p.Ala279Pro) rs1157567876
NM_001370658.1(BTD):c.875G>T (p.Gly292Val)
NM_001370658.1(BTD):c.881A>T (p.His294Leu)
NM_001370658.1(BTD):c.920dup (p.Asn307fs)
NM_001370658.1(BTD):c.932_941del (p.His311fs) rs773137513
NM_001543.5(NDST1):c.1918T>C (p.Phe640Leu) rs606231458
NM_001739.2(CA5A):c.580C>T (p.Gln194Ter) rs2055884613
NM_001739.2(CA5A):c.618+1G>T
NM_001807.6(CEL):c.1776del (p.Val593fs) rs193922638
NM_001807.6(CEL):c.1776dup (p.Val593fs) rs193922638
NM_001807.6(CEL):c.1875del (p.Val626fs)
NM_001807.6(CEL):c.337C>T (p.Gln113Ter) rs1200339761
NM_001931.5(DLAT):c.381+1G>T
NM_001931.5(DLAT):c.470T>G (p.Val157Gly) rs797044957
NM_001931.5(DLAT):c.848_849del (p.Asp283fs) rs782704553
NM_002076.4(GNS):c.1019A>G (p.Lys340Arg)
NM_002076.4(GNS):c.1098+1G>A
NM_002076.4(GNS):c.1200+1G>T
NM_002076.4(GNS):c.1200+2T>A rs2136240508
NM_002076.4(GNS):c.236_252+8del rs2136253236
NM_002076.4(GNS):c.252+1G>T rs368414819
NM_002076.4(GNS):c.616_617del (p.Asp206fs)
NM_002076.4(GNS):c.625-1G>A
NM_002076.4(GNS):c.625-2A>G rs2136247666
NM_002076.4(GNS):c.714G>A (p.Trp238Ter)
NM_002076.4(GNS):c.792+1G>A
NM_002076.4(GNS):c.995-2A>C
NM_002103.5(GYS1):c.1063-2A>G
NM_002103.5(GYS1):c.1229+1G>A rs111911126
NM_002103.5(GYS1):c.1645+1G>A
NM_002103.5(GYS1):c.1A>C (p.Met1Leu) rs748334413
NM_002103.5(GYS1):c.301-2A>C rs2122525708
NM_002103.5(GYS1):c.678+2T>G rs2122520177
NM_002294.2(LAMP2):c.(?_398)-60_(741_?)+68del
NM_002294.2(LAMP2):c.(?_929)_(1233_?)del
NM_002294.3(LAMP2):c.1082del (p.Lys361fs) rs1436664364
NM_002294.3(LAMP2):c.128_129dup (p.Ala44fs) rs730880344
NM_002294.3(LAMP2):c.183_183+4del
NM_002294.3(LAMP2):c.183dup (p.Lys62Ter)
NM_002294.3(LAMP2):c.190_191del (p.Val64fs) rs1569371330
NM_002294.3(LAMP2):c.2T>C (p.Met1Thr)
NM_002294.3(LAMP2):c.3G>A (p.Met1Ile) rs2147294924
NM_002294.3(LAMP2):c.463del (p.Ser155fs) rs193922649
NM_002294.3(LAMP2):c.65-1G>C rs730880496
NM_002294.3(LAMP2):c.768del (p.Asn257fs) rs2147281483
NM_002294.3(LAMP2):c.795C>A (p.Cys265Ter) rs730880483
NM_002294.3(LAMP2):c.864G>A (p.Val288=) rs2147281364
NM_002294.3(LAMP2):c.912T>G (p.Tyr304Ter) rs876657648
NM_002294.3(LAMP2):c.929-1G>A rs727504262
NM_002299.4(LCT):c.1692_1696del (p.Val565fs) rs386833832
NM_002299.4(LCT):c.4363C>T (p.Arg1455Cys) rs763006562
NM_002299.4(LCT):c.4419C>G (p.Tyr1473Ter) rs386833834
NM_002299.4(LCT):c.4834G>T (p.Glu1612Ter) rs386833835
NM_002299.4(LCT):c.4866+2T>G
NM_002299.4(LCT):c.4950C>A (p.Ser1650Arg) rs1312031160
NM_002299.4(LCT):c.4998_5001del (p.Ser1666fs) rs386833836
NM_002299.4(LCT):c.5387del (p.Asp1796fs) rs386833837
NM_002299.4(LCT):c.653_654del (p.Ser218fs) rs386833838
NM_002637.4(PHKA1):c.238-2A>T
NM_002637.4(PHKA1):c.678_684del (p.Val227fs) rs2053626907
NM_002637.4(PHKA1):c.919-2A>G rs2147766482
NM_002653.5(PITX1):c.412A>C (p.Lys138Gln) rs1752408637
NM_002768.5(CHMP1A):c.346G>A (p.Glu116Lys) rs1064794609
NM_002863.5(PYGL):c.1334T>C (p.Leu445Pro) rs2050437440
NM_002863.5(PYGL):c.1722C>A (p.Tyr574Ter)
NM_002863.5(PYGL):c.176C>A (p.Thr59Lys) rs150483902
NM_002863.5(PYGL):c.1820G>T (p.Gly607Val)
NM_002863.5(PYGL):c.1831G>A (p.Ala611Thr) rs767847163
NM_002863.5(PYGL):c.2071G>C (p.Gly691Arg) rs539898848
NM_002863.5(PYGL):c.2084G>A (p.Gly695Glu)
NM_002863.5(PYGL):c.2177+2T>C rs1368182301
NM_002863.5(PYGL):c.2483T>G (p.Val828Gly)
NM_002863.5(PYGL):c.361G>T (p.Glu121Ter)
NM_002863.5(PYGL):c.407dup (p.Leu137fs)
NM_002863.5(PYGL):c.472T>C (p.Tyr158His)
NM_002863.5(PYGL):c.715_716del (p.Val239fs)
NM_002863.5(PYGL):c.916C>T (p.Gln306Ter)
NM_003041.4(SLC5A2):c.1152_1163del (p.Val385_Ala388del) rs770588592
NM_003041.4(SLC5A2):c.1153_1162del (p.Val385fs)
NM_003041.4(SLC5A2):c.1345G>T (p.Gly449Cys) rs773289713
NM_003041.4(SLC5A2):c.1451G>A (p.Gly484Asp) rs1309307492
NM_003051.4(SLC16A1):c.328C>T (p.Gln110Ter) rs1570623881
NM_003384.2(VRK1):c.318_889+1945del
NM_003384.3(VRK1):c.1066A>T (p.Lys356Ter) rs1223645705
NM_003384.3(VRK1):c.1069-2A>G
NM_003384.3(VRK1):c.1094del (p.Ser365fs) rs2139845854
NM_003384.3(VRK1):c.1113_1117del (p.Glu371fs) rs2139845924
NM_003384.3(VRK1):c.156_160+3del rs1566696845
NM_003384.3(VRK1):c.160+1G>T rs2139749072
NM_003384.3(VRK1):c.161-2A>G
NM_003384.3(VRK1):c.216+1G>A
NM_003384.3(VRK1):c.236C>T (p.Pro79Leu) rs2139779062
NM_003384.3(VRK1):c.287-2A>C
NM_003384.3(VRK1):c.374+1G>T
NM_003384.3(VRK1):c.402_890-895del
NM_003384.3(VRK1):c.483+1G>A
NM_003384.3(VRK1):c.576+1G>A
NM_003384.3(VRK1):c.637T>C (p.Tyr213His) rs1595676477
NM_003384.3(VRK1):c.706G>A (p.Val236Met) rs771364038
NM_003384.3(VRK1):c.710-1G>A
NM_003384.3(VRK1):c.788A>G (p.Asp263Gly) rs1428656431
NM_003384.3(VRK1):c.812T>C (p.Val271Ala) rs2139804166
NM_003384.3(VRK1):c.830+1G>C
NM_003384.3(VRK1):c.889+1G>A rs1482696609
NM_003384.3(VRK1):c.976C>T (p.Gln326Ter) rs1566713184
NM_003477.3(PDHX):c.1012dup (p.Val338fs)
NM_003477.3(PDHX):c.134G>A (p.Trp45Ter) rs1064796807
NM_003477.3(PDHX):c.557del (p.Pro186fs)
NM_003477.3(PDHX):c.791C>G (p.Ser264Ter)
NM_003477.3(PDHX):c.793dup (p.Thr265fs) rs1057518180
NM_003619.4(PRSS12):c.1501A>T (p.Arg501Ter)
NM_003619.4(PRSS12):c.441_442del (p.Trp148fs) rs760638778
NM_003754.3(EIF3F):c.671C>T (p.Pro224Leu) rs1185010700
NM_004130.4(GYG1):c.3G>C (p.Met1Ile) rs1365446658
NM_004130.4(GYG1):c.482-1G>C
NM_004130.4(GYG1):c.7+2T>C
NM_004830.4(MED23):c.1181C>T (p.Pro394Leu) rs1775982467
NM_004830.4(MED23):c.2368_2371del (p.Leu790fs) rs760262127
NM_005271.5(GLUD1):c.1496G>C (p.Gly499Ala) rs121909734
NM_005271.5(GLUD1):c.1498G>A (p.Ala500Thr) rs797045597
NM_005271.5(GLUD1):c.1519C>T (p.His507Tyr) rs121909730
NM_005271.5(GLUD1):c.943C>T (p.His315Tyr)
NM_005271.5(GLUD1):c.965G>A (p.Arg322His) rs121909737
NM_005327.7(HADH):c.100G>C (p.Gly34Arg) rs779135938
NM_005327.7(HADH):c.130C>T (p.Gln44Ter)
NM_005327.7(HADH):c.166_169del (p.Val56fs)
NM_005327.7(HADH):c.261+1G>A rs1398546361
NM_005327.7(HADH):c.261+2T>A
NM_005327.7(HADH):c.262-2A>G
NM_005327.7(HADH):c.374_375insTTCA (p.Lys125fs) rs766656997
NM_005327.7(HADH):c.380A>G (p.Lys127Arg) rs1735626197
NM_005327.7(HADH):c.419+1G>C
NM_005327.7(HADH):c.424dup (p.Thr142fs)
NM_005327.7(HADH):c.434C>A (p.Ala145Asp)
NM_005327.7(HADH):c.587del (p.Ser196fs) rs745727504
NM_005327.7(HADH):c.636+2T>C
NM_005327.7(HADH):c.636+2_636+3insCT rs2126234552
NM_005327.7(HADH):c.688G>A (p.Ala230Thr) rs780574282
NM_005327.7(HADH):c.709+2T>C
NM_005327.7(HADH):c.710-822C>T rs183387994
NM_005536.4(IMPA1):c.817C>T (p.Arg273Ter) rs1308325707
NM_005566.4(LDHA):c.126+2T>C
NM_005566.4(LDHA):c.244G>A (p.Asp82Asn)
NM_005609.4(PYGM):c.1044_1050dup (p.Met351fs)
NM_005609.4(PYGM):c.1044del (p.Glu349fs) rs1592412131
NM_005609.4(PYGM):c.1092+1G>C rs749560316
NM_005609.4(PYGM):c.1093-1G>T rs1163710370
NM_005609.4(PYGM):c.1093-2A>T
NM_005609.4(PYGM):c.110A>G (p.His37Arg) rs1170598133
NM_005609.4(PYGM):c.1119T>A (p.Cys373Ter) rs2058377004
NM_005609.4(PYGM):c.1129A>T (p.Asn377Tyr) rs954192338
NM_005609.4(PYGM):c.1151C>T (p.Ala384Val) rs1465752595
NM_005609.4(PYGM):c.120_121insA (p.Val41fs)
NM_005609.4(PYGM):c.1239+1G>T rs759657964
NM_005609.4(PYGM):c.1240-2A>G rs1212333772
NM_005609.4(PYGM):c.125del (p.Lys42fs)
NM_005609.4(PYGM):c.1275dup (p.Leu426fs)
NM_005609.4(PYGM):c.1278_1288dup (p.Ser430fs) rs2058372554
NM_005609.4(PYGM):c.1362_1394del (p.Asn454_Leu464del)
NM_005609.4(PYGM):c.1363G>C (p.Gly455Arg)
NM_005609.4(PYGM):c.1403+1dup
NM_005609.4(PYGM):c.1446_1447dup (p.Lys483fs)
NM_005609.4(PYGM):c.1466dup (p.Arg490fs) rs886041476
NM_005609.4(PYGM):c.1468C>T (p.Arg490Trp)
NM_005609.4(PYGM):c.1469G>C (p.Arg490Pro)
NM_005609.4(PYGM):c.1507del (p.Val503fs) rs1272600960
NM_005609.4(PYGM):c.1519-1G>A rs2135831491
NM_005609.4(PYGM):c.1527_1530delinsTGA (p.Asp511fs) rs1057516612
NM_005609.4(PYGM):c.152A>G (p.Asp51Gly) rs397514631
NM_005609.4(PYGM):c.1620+1G>A rs1256894448
NM_005609.4(PYGM):c.1620+1G>T
NM_005609.4(PYGM):c.1636_1639del (p.Phe546fs)
NM_005609.4(PYGM):c.1680del (p.Asn561fs) rs1057516259
NM_005609.4(PYGM):c.1717G>T (p.Glu573Ter) rs752848974
NM_005609.4(PYGM):c.1722T>G (p.Tyr574Ter) rs119103260
NM_005609.4(PYGM):c.1732CTC[1] (p.Leu579del) rs1592409633
NM_005609.4(PYGM):c.1742del (p.Cys581fs) rs1592409631
NM_005609.4(PYGM):c.1769-1G>A rs2058357329
NM_005609.4(PYGM):c.1769G>A (p.Arg590His)
NM_005609.4(PYGM):c.1797del (p.Phe599fs) rs769960481
NM_005609.4(PYGM):c.1827+1G>C rs1057517442
NM_005609.4(PYGM):c.1828-1G>A
NM_005609.4(PYGM):c.1828-1G>T
NM_005609.4(PYGM):c.1828-2A>G rs2135829883
NM_005609.4(PYGM):c.194dup (p.Arg67fs)
NM_005609.4(PYGM):c.1969+1G>A
NM_005609.4(PYGM):c.1969+1G>C
NM_005609.4(PYGM):c.1969+1G>T rs753181427
NM_005609.4(PYGM):c.1970-1G>A rs1057516598
NM_005609.4(PYGM):c.1970-2A>C
NM_005609.4(PYGM):c.1979C>A (p.Ala660Asp)
NM_005609.4(PYGM):c.198del (p.Arg67fs) rs750857876
NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu) rs119103256
NM_005609.4(PYGM):c.1A>G (p.Met1Val) rs267606993
NM_005609.4(PYGM):c.204G>A (p.Trp68Ter) rs1057516349
NM_005609.4(PYGM):c.2057G>A (p.Gly686Glu)
NM_005609.4(PYGM):c.2082C>A (p.Asp694Glu) rs773543072
NM_005609.4(PYGM):c.2083G>T (p.Gly695Trp)
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del) rs527236147
NM_005609.4(PYGM):c.2136dup (p.Gly713fs) rs1057517067
NM_005609.4(PYGM):c.2177+1G>A rs751875471
NM_005609.4(PYGM):c.2177+1G>T
NM_005609.4(PYGM):c.217C>T (p.Gln73Ter) rs1057517361
NM_005609.4(PYGM):c.219_220del (p.His74fs) rs1555136752
NM_005609.4(PYGM):c.21_28dup (p.Lys10fs) rs770037766
NM_005609.4(PYGM):c.2231_2244del (p.Glu744fs) rs1057517058
NM_005609.4(PYGM):c.2259dup (p.Lys754fs) rs1565531453
NM_005609.4(PYGM):c.2262del (p.Lys754fs) rs398124210
NM_005609.4(PYGM):c.2274del (p.Phe759fs)
NM_005609.4(PYGM):c.2313-1G>A
NM_005609.4(PYGM):c.2319del (p.Val774fs) rs1462767117
NM_005609.4(PYGM):c.2363_2366del (p.Val788fs) rs1565531128
NM_005609.4(PYGM):c.2379+1G>A
NM_005609.4(PYGM):c.2379+2_2379+3delinsAT rs2135823216
NM_005609.4(PYGM):c.2380-1G>A rs1555133248
NM_005609.4(PYGM):c.2380-2A>G
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg) rs119103258
NM_005609.4(PYGM):c.244-1G>A rs2135840980
NM_005609.4(PYGM):c.247A>T (p.Ile83Phe)
NM_005609.4(PYGM):c.251_261del (p.Tyr84fs) rs1057516329
NM_005609.4(PYGM):c.2528G>T (p.Ter843Leu) rs1057516529
NM_005609.4(PYGM):c.253del (p.Tyr85fs) rs1057516629
NM_005609.4(PYGM):c.254_257del (p.Tyr85fs) rs2135840945
NM_005609.4(PYGM):c.255C>A (p.Tyr85Ter) rs527236146
NM_005609.4(PYGM):c.262_263del (p.Leu88fs) rs1555136540
NM_005609.4(PYGM):c.2T>C (p.Met1Thr) rs2058423391
NM_005609.4(PYGM):c.370G>T (p.Glu124Ter) rs1555136459
NM_005609.4(PYGM):c.395_408del (p.Leu132fs) rs1565538121
NM_005609.4(PYGM):c.403G>A (p.Gly135Arg) rs780246932
NM_005609.4(PYGM):c.407del (p.Gly136fs) rs786204723
NM_005609.4(PYGM):c.415C>G (p.Arg139Gly)
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp) rs367990192
NM_005609.4(PYGM):c.424+1G>A
NM_005609.4(PYGM):c.424+1G>T
NM_005609.4(PYGM):c.425-2A>G rs752851284
NM_005609.4(PYGM):c.445_448del (p.Ala149fs) rs1057517400
NM_005609.4(PYGM):c.470G>T (p.Gly157Val)
NM_005609.4(PYGM):c.472dup (p.Tyr158fs)
NM_005609.4(PYGM):c.501dup (p.Asn168Ter) rs1555136390
NM_005609.4(PYGM):c.506AGA[1] (p.Lys170del) rs764823441
NM_005609.4(PYGM):c.528+1G>A rs1262967083
NM_005609.4(PYGM):c.528+1G>T
NM_005609.4(PYGM):c.528+2T>G rs1057516468
NM_005609.4(PYGM):c.580del (p.Arg194fs)
NM_005609.4(PYGM):c.614G>A (p.Gly205Asp)
NM_005609.4(PYGM):c.658_659del (p.Gln220fs) rs766199191
NM_005609.4(PYGM):c.660+1G>A rs1555136208
NM_005609.4(PYGM):c.677_681dup (p.Asp228fs)
NM_005609.4(PYGM):c.682del (p.Asp228fs) rs2058388882
NM_005609.4(PYGM):c.735G>A (p.Trp245Ter)
NM_005609.4(PYGM):c.772+2T>A
NM_005609.4(PYGM):c.773-1G>C rs2135836264
NM_005609.4(PYGM):c.839_843del (p.Leu280fs)
NM_005609.4(PYGM):c.855+1G>A rs2135836123
NM_005609.4(PYGM):c.856-2A>C rs1565536363
NM_005609.4(PYGM):c.889G>T (p.Glu297Ter)
NM_005609.4(PYGM):c.999+1G>A
NM_005645.4(TAF13):c.204+1G>T rs2102105455
NM_005670.4(EPM2A):c.163C>T (p.Gln55Ter) rs187930476
NM_005670.4(EPM2A):c.179G>A (p.Trp60Ter)
NM_005670.4(EPM2A):c.745G>A (p.Val249Met) rs1387516050
NM_005670.4(EPM2A):c.759delinsCATGCA (p.Ala254fs) rs1131691331
NM_005908.4(MANBA):c.1112+1G>T
NM_005908.4(MANBA):c.1162C>T (p.Arg388Trp)
NM_005908.4(MANBA):c.1231-1G>A
NM_005908.4(MANBA):c.1236G>A (p.Trp412Ter) rs1553945794
NM_005908.4(MANBA):c.1540_1541del (p.Val514fs) rs775574131
NM_005908.4(MANBA):c.1704+1G>T
NM_005908.4(MANBA):c.1705-2A>G
NM_005908.4(MANBA):c.1753C>T (p.Arg585Ter)
NM_005908.4(MANBA):c.177+2T>C rs779221957
NM_005908.4(MANBA):c.178-2A>G
NM_005908.4(MANBA):c.2015-1G>A
NM_005908.4(MANBA):c.272+2T>C
NM_005908.4(MANBA):c.273-1G>A
NM_005908.4(MANBA):c.378+2T>C
NM_005908.4(MANBA):c.549+1G>A rs1334537145
NM_005908.4(MANBA):c.673+1G>A
NM_005908.4(MANBA):c.674-1G>C
NM_005908.4(MANBA):c.674-2A>G
NM_005908.4(MANBA):c.916del (p.Leu306fs)
NM_005908.4(MANBA):c.961-2A>C rs1411236177
NM_006218.4(PIK3CA):c.2075del (p.Cys692fs) rs1724954436
NM_006516.4(SLC2A1):c.100A>G (p.Asn34Asp) rs587784390
NM_006516.4(SLC2A1):c.102T>G (p.Asn34Lys) rs1570601007
NM_006516.4(SLC2A1):c.1136T>C (p.Phe379Ser) rs2124446500
NM_006516.4(SLC2A1):c.1199G>A (p.Arg400His) rs776095655
NM_006516.4(SLC2A1):c.1199_1200insGAG (p.Arg400_Pro401insSer) rs1570590905
NM_006516.4(SLC2A1):c.1234T>G (p.Trp412Gly) rs1570590859
NM_006516.4(SLC2A1):c.1264T>C (p.Phe422Leu) rs1570590834
NM_006516.4(SLC2A1):c.1300T>G (p.Phe434Val) rs1570590528
NM_006516.4(SLC2A1):c.1303ATC[1] (p.Ile436del) rs864309522
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp) rs13306758
NM_006516.4(SLC2A1):c.194G>A (p.Trp65Ter)
NM_006516.4(SLC2A1):c.209C>T (p.Ala70Val) rs2124450819
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp) rs202060209
NM_006516.4(SLC2A1):c.287T>C (p.Met96Thr) rs1643481875
NM_006516.4(SLC2A1):c.2T>C (p.Met1Thr) rs1553157935
NM_006516.4(SLC2A1):c.339del (p.Lys114fs) rs1643480923
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys) rs80359818
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His) rs80359816
NM_006516.4(SLC2A1):c.400G>A (p.Gly134Ser) rs1057518953
NM_006516.4(SLC2A1):c.424A>C (p.Met142Leu)
NM_006516.4(SLC2A1):c.458G>C (p.Arg153Pro) rs794727642
NM_006516.4(SLC2A1):c.458G>T (p.Arg153Leu) rs794727642
NM_006516.4(SLC2A1):c.46_47insCTCCTCA (p.Val16fs) rs1570601060
NM_006516.4(SLC2A1):c.499G>C (p.Gly167Arg) rs773339124
NM_006516.4(SLC2A1):c.49G>A (p.Gly17Arg) rs1345986424
NM_006516.4(SLC2A1):c.505_507del (p.Leu169del) rs80359832
NM_006516.4(SLC2A1):c.598C>T (p.Gln200Ter) rs1057521967
NM_006516.4(SLC2A1):c.621_629del (p.Glu209_Pro211del) rs1557646075
NM_006516.4(SLC2A1):c.635G>A (p.Arg212His) rs886039517
NM_006516.4(SLC2A1):c.680-3C>G rs112081052
NM_006516.4(SLC2A1):c.692T>C (p.Leu231Pro) rs2124449089
NM_006516.4(SLC2A1):c.694C>T (p.Arg232Cys) rs387907313
NM_006516.4(SLC2A1):c.728A>T (p.Glu243Val) rs2124449030
NM_006516.4(SLC2A1):c.731T>C (p.Met244Thr) rs1064795363
NM_006516.4(SLC2A1):c.737_740del (p.Glu246fs)
NM_006516.4(SLC2A1):c.843_854del (p.Gln282_Ser285del) rs2124448824
NM_006516.4(SLC2A1):c.851T>C (p.Leu284Pro) rs2124448826
NM_006516.4(SLC2A1):c.913C>T (p.Gln305Ter)
NM_006516.4(SLC2A1):c.929C>T (p.Thr310Ile) rs80359824
NM_006516.4(SLC2A1):c.938C>T (p.Ser313Phe) rs794727870
NM_006516.4(SLC2A1):c.964del (p.Val322fs)
NM_006516.4(SLC2A1):c.971C>T (p.Ser324Leu) rs796053253
NM_006516.4(SLC2A1):c.972G>A (p.Ser324=) rs796053254
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) rs80359825
NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln) rs1553155986
NM_006618.5(KDM5B):c.2265C>G (p.Tyr755Ter)
NM_006618.5(KDM5B):c.2945+1G>A rs2102232815
NM_006618.5(KDM5B):c.3224del (p.Asn1075fs)
NM_006618.5(KDM5B):c.3309_3312del (p.Arg1103fs)
NM_006618.5(KDM5B):c.3635del (p.Gly1212fs)
NM_006618.5(KDM5B):c.3652dup (p.Cys1218fs) rs1572705473
NM_006618.5(KDM5B):c.4109T>G (p.Leu1370Ter) rs1558478047
NM_006618.5(KDM5B):c.418G>T (p.Glu140Ter)
NM_006618.5(KDM5B):c.998_1004del (p.Ser333fs)
NM_006721.4(ADK):c.1031C>T (p.Ala344Val) rs1589387419
NM_006721.4(ADK):c.642_645del (p.Ser215fs)
NM_006721.4(ADK):c.813dup (p.Asn272fs) rs1589286482
NM_006721.4(ADK):c.916C>T (p.Gln306Ter)
NM_006755.2(TALDO1):c.512C>T (p.Ser171Phe)
NM_006755.2(TALDO1):c.695_696del (p.Ile232fs)
NM_006765.4(TUSC3):c.119dup (p.Gly41fs)
NM_006765.4(TUSC3):c.55_69delinsGC (p.Tyr19fs)
NM_006765.4(TUSC3):c.568-2A>G rs2129179995
NM_006772.3(SYNGAP1):c.403C>T (p.Arg135Ter) rs1131692154
NM_006859.4(LIAS):c.1063G>C (p.Ala355Pro) rs1745058899
NM_006859.4(LIAS):c.218+1G>A
NM_006859.4(LIAS):c.587C>A (p.Thr196Asn) rs1744715983
NM_006859.4(LIAS):c.643del (p.Asp215fs) rs1744806313
NM_006859.4(LIAS):c.884-1G>A rs201155530
NM_006895.3(HNMT):c.475del (p.His159fs) rs765863580
NM_006895.3(HNMT):c.623T>C (p.Leu208Pro) rs745756308
NM_012203.2(GRHPR):c.-4_-3delinsAT rs796052077
NM_012203.2(GRHPR):c.101G>A (p.Trp34Ter)
NM_012203.2(GRHPR):c.102_112del (p.Trp34_Glu38delinsTer)
NM_012203.2(GRHPR):c.136G>T (p.Glu46Ter) rs202022170
NM_012203.2(GRHPR):c.154del (p.Ala52fs) rs751101495
NM_012203.2(GRHPR):c.170G>A (p.Cys57Tyr)
NM_012203.2(GRHPR):c.175del (p.Leu59fs)
NM_012203.2(GRHPR):c.181G>A (p.Asp61Asn)
NM_012203.2(GRHPR):c.188_189del (p.Val63fs) rs1554746565
NM_012203.2(GRHPR):c.1A>G (p.Met1Val) rs1554746094
NM_012203.2(GRHPR):c.1A>T (p.Met1Leu) rs1554746094
NM_012203.2(GRHPR):c.206_214+11del
NM_012203.2(GRHPR):c.214+1G>C rs1244822375
NM_012203.2(GRHPR):c.214+2T>G rs1057517398
NM_012203.2(GRHPR):c.215-2_215-1del rs1554746793
NM_012203.2(GRHPR):c.228dup (p.Val77fs) rs1057517238
NM_012203.2(GRHPR):c.251del (p.Gly84fs)
NM_012203.2(GRHPR):c.258_272del (p.His87_Asp91del)
NM_012203.2(GRHPR):c.287+2T>C rs1564297234
NM_012203.2(GRHPR):c.287G>A (p.Arg96His)
NM_012203.2(GRHPR):c.288-1G>C
NM_012203.2(GRHPR):c.2T>G (p.Met1Arg) rs1554746097
NM_012203.2(GRHPR):c.306C>A (p.Tyr102Ter) rs1823086297
NM_012203.2(GRHPR):c.319dup (p.Leu107fs)
NM_012203.2(GRHPR):c.337G>T (p.Glu113Ter) rs180177307
NM_012203.2(GRHPR):c.338_351del (p.Glu113fs)
NM_012203.2(GRHPR):c.344C>A (p.Ala115Glu)
NM_012203.2(GRHPR):c.348del (p.Ser117fs)
NM_012203.2(GRHPR):c.351_373del (p.Leu118fs)
NM_012203.2(GRHPR):c.404+3_404+6del rs180177309
NM_012203.2(GRHPR):c.404del (p.Asn135fs) rs1057516299
NM_012203.2(GRHPR):c.405-1G>A rs779208888
NM_012203.2(GRHPR):c.412T>C (p.Trp138Arg)
NM_012203.2(GRHPR):c.435_436del (p.Trp145fs) rs1057517333
NM_012203.2(GRHPR):c.441_442del (p.Cys147fs) rs1057517026
NM_012203.2(GRHPR):c.457C>T (p.Gln153Ter) rs1341484544
NM_012203.2(GRHPR):c.493+2T>A rs180177313
NM_012203.2(GRHPR):c.496C>T (p.Gln166Ter)
NM_012203.2(GRHPR):c.496del (p.Gln166fs) rs1554747871
NM_012203.2(GRHPR):c.499_500insAGAGT (p.Ala167fs)
NM_012203.2(GRHPR):c.515del (p.Leu172fs) rs1057516990
NM_012203.2(GRHPR):c.532del (p.Gln178fs)
NM_012203.2(GRHPR):c.536_537del (p.Arg179fs)
NM_012203.2(GRHPR):c.540del (p.Leu181fs) rs180177315
NM_012203.2(GRHPR):c.586del (p.Gln196fs)
NM_012203.2(GRHPR):c.589del (p.Ala197fs) rs1564300408
NM_012203.2(GRHPR):c.597del (p.Phe199fs) rs1057516292
NM_012203.2(GRHPR):c.598+1G>T rs111256477
NM_012203.2(GRHPR):c.598+1del rs1554747933
NM_012203.2(GRHPR):c.599-1G>A
NM_012203.2(GRHPR):c.599-1G>C rs1422977131
NM_012203.2(GRHPR):c.603dup (p.Thr202fs)
NM_012203.2(GRHPR):c.617_671del (p.Ala206fs) rs1564300888
NM_012203.2(GRHPR):c.675_676del (p.Cys226fs)
NM_012203.2(GRHPR):c.737dup
NM_012203.2(GRHPR):c.755dup (p.Asp252fs) rs1057516823
NM_012203.2(GRHPR):c.779dup (p.Ser260fs)
NM_012203.2(GRHPR):c.780dup (p.Gly261fs)
NM_012203.2(GRHPR):c.781_782delinsTAC (p.Gly261fs) rs1554748528
NM_012203.2(GRHPR):c.783dup (p.Lys262Ter) rs1554748534
NM_012203.2(GRHPR):c.806A>G (p.Asp269Gly)
NM_012203.2(GRHPR):c.83+1G>A
NM_012203.2(GRHPR):c.83+1G>C rs1822898131
NM_012203.2(GRHPR):c.849dup (p.Thr284fs) rs1554748574
NM_012203.2(GRHPR):c.863del (p.Cys288fs) rs1554748598
NM_012203.2(GRHPR):c.865+1del
NM_012203.2(GRHPR):c.865+2T>C
NM_012203.2(GRHPR):c.866_867del (p.Val289fs) rs180177321
NM_012203.2(GRHPR):c.867_870dup (p.Leu291fs) rs1554749639
NM_012203.2(GRHPR):c.889G>A (p.Ala297Thr) rs200632069
NM_012203.2(GRHPR):c.905G>C (p.Arg302Pro)
NM_012203.2(GRHPR):c.932dup (p.Asn311fs)
NM_012203.2(GRHPR):c.934A>G (p.Asn312Asp) rs180177324
NM_012203.2(GRHPR):c.94_97dup (p.Gln33fs)
NM_012203.2(GRHPR):c.954del (p.Glu320fs) rs1057516831
NM_012434.5(SLC17A5):c.1001C>G (p.Pro334Arg) rs119491110
NM_012434.5(SLC17A5):c.1035_1036insCTTATACACA (p.Gly346fs)
NM_012434.5(SLC17A5):c.1048del (p.Asp350fs)
NM_012434.5(SLC17A5):c.1096delinsTGTGTATAAGAGACAGT (p.Ile366delinsCysValTer)
NM_012434.5(SLC17A5):c.1111+1G>T rs777862172
NM_012434.5(SLC17A5):c.1111G>A (p.Gly371Arg) rs1277966688
NM_012434.5(SLC17A5):c.1121del (p.Gly374fs) rs1057517119
NM_012434.5(SLC17A5):c.1127del (p.Ala376fs) rs1057517111
NM_012434.5(SLC17A5):c.1208del (p.Gly403fs) rs1554161865
NM_012434.5(SLC17A5):c.1226G>A (p.Gly409Glu) rs386833989
NM_012434.5(SLC17A5):c.1259+1G>T rs146095590
NM_012434.5(SLC17A5):c.1350+1G>A rs1057516951
NM_012434.5(SLC17A5):c.169C>T (p.Arg57Cys) rs754150739
NM_012434.5(SLC17A5):c.1A>G (p.Met1Val) rs1304456183
NM_012434.5(SLC17A5):c.204del (p.Asp69fs) rs1057516549
NM_012434.5(SLC17A5):c.215_216del (p.Thr72fs) rs1057516505
NM_012434.5(SLC17A5):c.215del (p.Thr72fs) rs1057517269
NM_012434.5(SLC17A5):c.221T>G (p.Leu74Ter)
NM_012434.5(SLC17A5):c.254del (p.Glu85fs)
NM_012434.5(SLC17A5):c.286C>T (p.Gln96Ter)
NM_012434.5(SLC17A5):c.289dup (p.Thr97fs)
NM_012434.5(SLC17A5):c.292-1G>C rs1554164322
NM_012434.5(SLC17A5):c.292-2A>C rs1057516528
NM_012434.5(SLC17A5):c.294_310del
NM_012434.5(SLC17A5):c.308G>A (p.Trp103Ter)
NM_012434.5(SLC17A5):c.309G>A (p.Trp103Ter) rs386833991
NM_012434.5(SLC17A5):c.321_322insGTCTCTTATA (p.Gln108fs)
NM_012434.5(SLC17A5):c.349dup (p.Tyr117fs) rs772039085
NM_012434.5(SLC17A5):c.384T>A (p.Tyr128Ter) rs1057516257
NM_012434.5(SLC17A5):c.390del (p.Ser131fs)
NM_012434.5(SLC17A5):c.407A>G (p.Lys136Arg)
NM_012434.5(SLC17A5):c.409del (p.Met137fs) rs794729653
NM_012434.5(SLC17A5):c.423del (p.Phe141fs) rs1057516419
NM_012434.5(SLC17A5):c.436_437insACTCCTAAAT (p.Thr146delinsAsnSerTer)
NM_012434.5(SLC17A5):c.43G>T (p.Glu15Ter) rs727504157
NM_012434.5(SLC17A5):c.458_460delinsATCTAAGTGT (p.Thr153fs)
NM_012434.5(SLC17A5):c.485_486insCAAGAGAGCAAAATAC (p.Pro163fs)
NM_012434.5(SLC17A5):c.527G>T (p.Gly176Val)
NM_012434.5(SLC17A5):c.609dup (p.Ala204fs)
NM_012434.5(SLC17A5):c.613+1G>A rs1769124033
NM_012434.5(SLC17A5):c.613+2T>A rs1554164078
NM_012434.5(SLC17A5):c.614-1G>A rs1554163958
NM_012434.5(SLC17A5):c.619C>T (p.Gln207Ter) rs1769021763
NM_012434.5(SLC17A5):c.693C>A (p.Tyr231Ter)
NM_012434.5(SLC17A5):c.693del (p.Phe233fs) rs1057516862
NM_012434.5(SLC17A5):c.699del (p.Phe233fs) rs779548058
NM_012434.5(SLC17A5):c.700+2T>C rs1440688652
NM_012434.5(SLC17A5):c.701-1G>A
NM_012434.5(SLC17A5):c.718dup (p.Trp240fs) rs1554163878
NM_012434.5(SLC17A5):c.735dup (p.Trp246fs)
NM_012434.5(SLC17A5):c.738G>A (p.Trp246Ter) rs755923873
NM_012434.5(SLC17A5):c.786A>C (p.Glu262Asp) rs1768948534
NM_012434.5(SLC17A5):c.790G>T (p.Glu264Ter)
NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del) rs386833994
NM_012434.5(SLC17A5):c.819+1G>A rs1057517028
NM_012434.5(SLC17A5):c.820-2A>C rs1554162842
NM_012434.5(SLC17A5):c.846_849del (p.Trp282fs)
NM_012434.5(SLC17A5):c.857T>A (p.Leu286Ter)
NM_012434.5(SLC17A5):c.903C>G (p.Tyr301Ter)
NM_012434.5(SLC17A5):c.905del (p.Asn302fs) rs771156053
NM_012434.5(SLC17A5):c.909G>A (p.Trp303Ter) rs1057516601
NM_012434.5(SLC17A5):c.915_916del (p.Phe305fs)
NM_012434.5(SLC17A5):c.94+1G>A
NM_012434.5(SLC17A5):c.94+2T>A rs1769984400
NM_012434.5(SLC17A5):c.95-1G>A
NM_012434.5(SLC17A5):c.978+1G>A rs2150099218
NM_012434.5(SLC17A5):c.979-2A>G rs1554162230
NM_012434.5(SLC17A5):c.983G>A (p.Gly328Glu) rs386833996
NM_012434.5(SLC17A5):c.992_995delinsAT (p.Ser331fs)
NM_012434.5(SLC17A5):c.998del (p.Leu333fs) rs779494716
NM_014026.6(DCPS):c.856G>T (p.Glu286Ter)
NM_014168.4(METTL5):c.406+1_406+2insATACAAATTC
NM_014168.4(METTL5):c.541+1G>C rs1467526653
NM_014806.5(RUSC2):c.2773C>T (p.Arg925Ter) rs765514069
NM_015275.3(WASHC4):c.1038+1G>T rs1881282106
NM_015275.3(WASHC4):c.1374del (p.Met458fs)
NM_015275.3(WASHC4):c.2133dup (p.Ser712fs)
NM_015981.4(CAMK2A):c.220C>T (p.Arg74Ter)
NM_016042.4(EXOSC3):c.2T>G (p.Met1Arg)
NM_016042.4(EXOSC3):c.325-1G>T
NM_016042.4(EXOSC3):c.428_431del (p.Tyr143fs) rs1296865764
NM_016042.4(EXOSC3):c.482A>G (p.Asp161Gly) rs2118977758
NM_016042.4(EXOSC3):c.619_622dup (p.Arg208delinsAsnTer) rs1160669103
NM_016042.4(EXOSC3):c.703G>A (p.Gly235Arg)
NM_016042.4(EXOSC3):c.712T>C (p.Trp238Arg) rs672601332
NM_016203.4(PRKAG2):c.1004T>C (p.Met335Thr) rs730880978
NM_016203.4(PRKAG2):c.1201C>G (p.His401Asp) rs878855017
NM_016203.4(PRKAG2):c.1459T>C (p.Tyr487His) rs267606976
NM_016203.4(PRKAG2):c.1591C>T (p.Arg531Trp) rs121908990
NM_016203.4(PRKAG2):c.1642T>G (p.Ser548Ala)
NM_016203.4(PRKAG2):c.1643C>T (p.Ser548Leu) rs1563131309
NM_016203.4(PRKAG2):c.879C>A (p.Phe293Leu) rs193922697
NM_016219.5(MAN1B1):c.1972del (p.Ser658fs)
NM_016219.5(MAN1B1):c.219+1G>A rs2130983856
NM_016219.5(MAN1B1):c.219G>T (p.Arg73Ser)
NM_016219.5(MAN1B1):c.530_542del (p.Leu177fs) rs797045688
NM_016219.5(MAN1B1):c.917-2_921del
NM_016302.4(CRBN):c.1171T>C (p.Cys391Arg) rs797045036
NM_016302.4(CRBN):c.641C>G (p.Ser214Ter) rs1575094649
NM_017721.5(CC2D1A):c.1620_1623dup (p.Pro542fs) rs1971392241
NM_017721.5(CC2D1A):c.61-2A>G
NM_017755.6(NSUN2):c.1165C>T (p.Arg389Ter) rs1377452635
NM_017755.6(NSUN2):c.1198_1201dup (p.Leu401fs)
NM_017755.6(NSUN2):c.1566del (p.Phe522fs)
NM_017755.6(NSUN2):c.1725_1728del (p.Ser575fs) rs762288077
NM_017755.6(NSUN2):c.1903A>G (p.Asn635Asp) rs1403893283
NM_017755.6(NSUN2):c.430_431del (p.Lys144fs) rs1579377990
NM_017755.6(NSUN2):c.790C>T (p.Arg264Ter) rs868442196
NM_017755.6(NSUN2):c.839dup (p.Asn280fs) rs1579370234
NM_017755.6(NSUN2):c.962_964delinsTTA (p.Cys321_Ser322delinsPheThr)
NM_018255.4(ELP2):c.2084_2087del (p.Val695fs)
NM_018255.4(ELP2):c.2237del (p.Cys746fs)
NM_018255.4(ELP2):c.293dup (p.Leu98fs) rs529659464
NM_018297.4(NGLY1):c.1124_1125del (p.Tyr375fs)
NM_018297.4(NGLY1):c.1764_1785del (p.Asp588fs) rs2125442722
NM_018297.4(NGLY1):c.490dup (p.Thr164fs)
NM_018297.4(NGLY1):c.982C>T (p.Arg328Cys) rs762276611
NM_020066.5(FMN2):c.1861C>T (p.Arg621Ter) rs1426355851
NM_020066.5(FMN2):c.547A>T (p.Ile183Phe) rs757511770
NM_020066.5(FMN2):c.874C>T (p.Gln292Ter)
NM_020374.4(C12orf4):c.1168_1169delinsC (p.Gly390fs)
NM_020374.4(C12orf4):c.1200_1201insGT (p.Lys401fs) rs1943353362
NM_020374.4(C12orf4):c.799_1034-429delinsTTATGA
NM_021957.4(GYS2):c.1062+1G>T rs781511110
NM_021957.4(GYS2):c.1472T>G (p.Met491Arg) rs121918422
NM_021957.4(GYS2):c.1753C>T (p.Gln585Ter)
NM_021957.4(GYS2):c.574C>T (p.Arg192Ter) rs150382575
NM_021957.4(GYS2):c.942-2A>G
NM_022172.2(PC):c.[2095G>A];[2095G>T]
NM_024298.5(MBOAT7):c.1062C>A (p.Tyr354Ter) rs2076017638
NM_024298.5(MBOAT7):c.1135del (p.Leu379fs) rs2076013475
NM_024298.5(MBOAT7):c.126_145del (p.Leu43fs) rs886041058
NM_024298.5(MBOAT7):c.1290C>A (p.Tyr430Ter)
NM_024298.5(MBOAT7):c.199C>T (p.Gln67Ter) rs2076508722
NM_024298.5(MBOAT7):c.259C>T (p.Arg87Ter) rs2076453599
NM_024298.5(MBOAT7):c.680_690dup (p.Leu231fs) rs1264222654
NM_024298.5(MBOAT7):c.757G>A (p.Glu253Lys) rs868498080
NM_024298.5(MBOAT7):c.811dup (p.Arg271fs) rs2146989146
NM_024989.4(PGAP1):c.1066A>T (p.Lys356Ter) rs1576164991
NM_024989.4(PGAP1):c.1272G>A (p.Lys424=)
NM_024989.4(PGAP1):c.1351-2A>G
NM_024989.4(PGAP1):c.2274C>G (p.Tyr758Ter) rs1576086299
NM_024989.4(PGAP1):c.2287-1G>A
NM_024989.4(PGAP1):c.2338-2A>C rs1559328283
NM_024989.4(PGAP1):c.2393C>G (p.Ser798Ter)
NM_024989.4(PGAP1):c.289del (p.Ser97fs)
NM_024989.4(PGAP1):c.586CTT[1] (p.Leu197del) rs587777378
NM_030805.4(LMAN2L):c.740G>A (p.Arg247His) rs773649192
NM_031229.4(RBCK1):c.1108_1109insT (p.His370fs)
NM_031229.4(RBCK1):c.1522_1526del (p.Asn508fs) rs2122349615
NM_031229.4(RBCK1):c.461-2A>G rs2016220601
NM_031229.4(RBCK1):c.582+1G>A rs1017046170
NM_031229.4(RBCK1):c.799C>T (p.Gln267Ter) rs2122268166
NM_031466.7(TRAPPC9):c.[2415_2416insC];[3349+1G>A]
NM_033159.4(HYAL1):c.586_598del (p.Arg196fs) rs1702201097
NM_033159.4(HYAL1):c.900+1G>A
NM_033507.2(GCK):c.488del rs1246464603
NM_138413.4(HOGA1):c.10_11insTGGTC (p.Pro4fs) rs924232072
NM_138413.4(HOGA1):c.110G>T (p.Gly37Val) rs772722925
NM_138413.4(HOGA1):c.122_123del (p.Pro41fs) rs1564753668
NM_138413.4(HOGA1):c.122del (p.Pro41fs)
NM_138413.4(HOGA1):c.122dup (p.Val42fs) rs1425736036
NM_138413.4(HOGA1):c.134C>G (p.Pro45Arg) rs764396564
NM_138413.4(HOGA1):c.189del (p.Lys63fs) rs1247079002
NM_138413.4(HOGA1):c.206T>G (p.Phe69Cys)
NM_138413.4(HOGA1):c.212-1G>A
NM_138413.4(HOGA1):c.212G>T (p.Gly71Val)
NM_138413.4(HOGA1):c.234T>A (p.Asn78Lys)
NM_138413.4(HOGA1):c.250del (p.Phe83_Leu84insTer)
NM_138413.4(HOGA1):c.251T>C (p.Leu84Pro)
NM_138413.4(HOGA1):c.266G>A (p.Arg89His)
NM_138413.4(HOGA1):c.340+1G>A
NM_138413.4(HOGA1):c.356T>A (p.Val119Glu)
NM_138413.4(HOGA1):c.356T>G (p.Val119Gly)
NM_138413.4(HOGA1):c.376G>A (p.Ala126Thr)
NM_138413.4(HOGA1):c.404del (p.Val135fs) rs1554874148
NM_138413.4(HOGA1):c.413del (p.Pro138fs) rs777683624
NM_138413.4(HOGA1):c.425G>A (p.Arg142His)
NM_138413.4(HOGA1):c.448del (p.Leu150fs) rs746776892
NM_138413.4(HOGA1):c.469-1G>C
NM_138413.4(HOGA1):c.533T>C (p.Leu178Pro) rs796052090
NM_138413.4(HOGA1):c.533_535delinsCGA (p.Leu178_Pro179delinsProThr)
NM_138413.4(HOGA1):c.580G>A (p.Gly194Ser)
NM_138413.4(HOGA1):c.603+1G>A rs2135722313
NM_138413.4(HOGA1):c.634A>C (p.Thr212Pro)
NM_138413.4(HOGA1):c.651dup (p.Gln218fs)
NM_138413.4(HOGA1):c.700+2T>A
NM_138413.4(HOGA1):c.701-2A>G rs776817346
NM_138413.4(HOGA1):c.720C>A (p.Cys240Ter)
NM_138413.4(HOGA1):c.733G>T (p.Val245Phe) rs755562733
NM_138413.4(HOGA1):c.743del (p.Ala248fs)
NM_138413.4(HOGA1):c.785G>A (p.Trp262Ter)
NM_138413.4(HOGA1):c.787G>T (p.Glu263Ter)
NM_138413.4(HOGA1):c.796C>T (p.Gln266Ter) rs752277936
NM_138413.4(HOGA1):c.814C>G (p.Leu272Val)
NM_138413.4(HOGA1):c.833C>A (p.Ala278Glu)
NM_138413.4(HOGA1):c.834+1G>A rs749315029
NM_138413.4(HOGA1):c.834+2T>C rs947352856
NM_138413.4(HOGA1):c.844C>T (p.Arg282Cys)
NM_138413.4(HOGA1):c.845G>A (p.Arg282His)
NM_138413.4(HOGA1):c.895G>C (p.Gly299Arg)
NM_138413.4(HOGA1):c.908G>A (p.Arg303His)
NM_138413.4(HOGA1):c.926T>C (p.Leu309Pro)
NM_138775.3(ALKBH8):c.982C>T (p.Arg328Ter)
NM_144563.3(RPIA):c.253G>A (p.Ala85Thr) rs1399404493
NM_144563.3(RPIA):c.451C>T (p.Arg151Ter) rs760452079
NM_144563.3(RPIA):c.770T>C (p.Ile257Thr) rs2104137690
NM_145262.4(GLYCTK):c.1057del (p.His353fs) rs1700517033
NM_145262.4(GLYCTK):c.37C>T (p.Arg13Ter)
NM_152419.3(HGSNAT):c.1013-1G>C rs1804147747
NM_152419.3(HGSNAT):c.1058_1059insT (p.Val354fs)
NM_152419.3(HGSNAT):c.1170G>A (p.Trp390Ter) rs1804526900
NM_152419.3(HGSNAT):c.118+2T>C rs2130648749
NM_152419.3(HGSNAT):c.118+5G>A rs1174944521
NM_152419.3(HGSNAT):c.1267G>T (p.Gly423Trp) rs1064795522
NM_152419.3(HGSNAT):c.1270G>A (p.Gly424Ser) rs747616932
NM_152419.3(HGSNAT):c.1323C>A (p.Tyr441Ter) rs1804568176
NM_152419.3(HGSNAT):c.1358_1361del (p.Tyr453fs)
NM_152419.3(HGSNAT):c.1360C>T (p.Gln454Ter) rs1057518644
NM_152419.3(HGSNAT):c.1378-2A>G rs2130810560
NM_152419.3(HGSNAT):c.1411G>C (p.Glu471Gln) rs753355844
NM_152419.3(HGSNAT):c.1411G>T (p.Glu471Ter) rs753355844
NM_152419.3(HGSNAT):c.1517_1523del (p.Arg506fs)
NM_152419.3(HGSNAT):c.1542+1G>A rs1554537612
NM_152419.3(HGSNAT):c.1542+1G>C rs1554537612
NM_152419.3(HGSNAT):c.1542+2T>G rs1554537613
NM_152419.3(HGSNAT):c.1543-2A>G rs1804769861
NM_152419.3(HGSNAT):c.1567A>T (p.Lys523Ter) rs73569592
NM_152419.3(HGSNAT):c.1575_1576del (p.Glu526fs)
NM_152419.3(HGSNAT):c.157C>T (p.Gln53Ter) rs1802738210
NM_152419.3(HGSNAT):c.1614-1G>C
NM_152419.3(HGSNAT):c.1614-2A>T rs1554537807
NM_152419.3(HGSNAT):c.1621T>A (p.Ser541Thr) rs2130821593
NM_152419.3(HGSNAT):c.1674C>G (p.Tyr558Ter) rs1554537841
NM_152419.3(HGSNAT):c.1726+1G>A
NM_152419.3(HGSNAT):c.220G>T (p.Glu74Ter) rs1802741140
NM_152419.3(HGSNAT):c.265C>T (p.Gln89Ter) rs1803166332
NM_152419.3(HGSNAT):c.283A>T (p.Lys95Ter) rs1803167331
NM_152419.3(HGSNAT):c.391G>T (p.Glu131Ter) rs1803181154
NM_152419.3(HGSNAT):c.433G>T (p.Gly145Ter) rs1803182974
NM_152419.3(HGSNAT):c.469G>T (p.Glu157Ter) rs553837106
NM_152419.3(HGSNAT):c.563+1G>C
NM_152419.3(HGSNAT):c.563+2T>A rs2130722124
NM_152419.3(HGSNAT):c.564-1G>A
NM_152419.3(HGSNAT):c.567_568delinsT (p.Leu189fs)
NM_152419.3(HGSNAT):c.634-2A>G
NM_152419.3(HGSNAT):c.716_720del (p.Arg239fs)
NM_152419.3(HGSNAT):c.728dup (p.Asp244fs)
NM_152419.3(HGSNAT):c.742G>A (p.Gly248Arg)
NM_152419.3(HGSNAT):c.743+1del rs1554531744
NM_152419.3(HGSNAT):c.744-2A>C
NM_152419.3(HGSNAT):c.744-2A>G rs762402992
NM_152419.3(HGSNAT):c.773A>G (p.Asn258Ser) rs767574122
NM_152419.3(HGSNAT):c.784G>T (p.Gly262Ter) rs1803654249
NM_152419.3(HGSNAT):c.818A>T (p.Asn273Ile)
NM_152419.3(HGSNAT):c.820+1G>A
NM_152419.3(HGSNAT):c.836A>C (p.Asp279Ala) rs1085307112
NM_152419.3(HGSNAT):c.847C>T (p.Pro283Ser) rs2130754863
NM_152419.3(HGSNAT):c.851+1G>A rs1554532283
NM_152419.3(HGSNAT):c.851+1G>T rs1554532283
NM_152419.3(HGSNAT):c.925A>T (p.Arg309Ter) rs1803878901
NM_152419.3(HGSNAT):c.947G>A (p.Trp316Ter) rs1554533211
NM_152419.3(HGSNAT):c.9_10insCG (p.Ala4fs) rs1554526454
NM_153747.2(PIGC):c.12_13insTTGTGACTAACA (p.Pro5delinsLeuTer)
NM_153747.2(PIGC):c.566T>G (p.Leu189Trp) rs1553259614
NM_175914.5(HNF4A):c.1052_1053dup (p.Leu352fs) rs2063787705
NM_175914.5(HNF4A):c.1063G>C (p.Gly355Arg)
NM_175914.5(HNF4A):c.1187G>C (p.Cys396Ser) rs193922470
NM_175914.5(HNF4A):c.179G>T (p.Gly60Val) rs2146368271
NM_175914.5(HNF4A):c.194G>T (p.Ser65Ile)
NM_175914.5(HNF4A):c.1del (p.Met1fs) rs2146127577
NM_175914.5(HNF4A):c.200G>A (p.Arg67Gln) rs1555813319
NM_175914.5(HNF4A):c.201del (p.Lys68fs) rs1385251852
NM_175914.5(HNF4A):c.224+1G>A rs1600707958
NM_175914.5(HNF4A):c.224+2T>C rs1057524790
NM_175914.5(HNF4A):c.224G>A (p.Arg75Lys) rs1131692187
NM_175914.5(HNF4A):c.225-3C>A
NM_175914.5(HNF4A):c.281_282delinsC (p.Arg94fs) rs193922471
NM_175914.5(HNF4A):c.319+2T>C rs1600710669
NM_175914.5(HNF4A):c.3G>A (p.Met1Ile) rs2146127594
NM_175914.5(HNF4A):c.403C>T (p.Gln135Ter) rs1555815158
NM_175914.5(HNF4A):c.427-1G>A rs1568731279
NM_175914.5(HNF4A):c.469A>C (p.Lys157Gln)
NM_175914.5(HNF4A):c.470AGA[1] (p.Lys158del) rs1280663753
NM_175914.5(HNF4A):c.476T>C (p.Ile159Thr)
NM_175914.5(HNF4A):c.498T>A (p.Cys166Ter) rs1555815393
NM_175914.5(HNF4A):c.530T>C (p.Val177Ala) rs2146417574
NM_175914.5(HNF4A):c.537G>C (p.Trp179Cys)
NM_175914.5(HNF4A):c.553G>C (p.Ala185Pro) rs193922474
NM_175914.5(HNF4A):c.575_582+10del rs193922475
NM_175914.5(HNF4A):c.582+1G>A rs1392795567
NM_175914.5(HNF4A):c.583-1G>C
NM_175914.5(HNF4A):c.589C>A (p.Leu197Met) rs1775879070
NM_175914.5(HNF4A):c.614A>C (p.His205Pro) rs2146438016
NM_175914.5(HNF4A):c.640T>A (p.Ser214Thr) rs1060499693
NM_175914.5(HNF4A):c.660_662delinsTCAA (p.Leu221fs) rs193922476
NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp) rs376013528
NM_175914.5(HNF4A):c.740T>C (p.Leu247Pro) rs1555816654
NM_175914.5(HNF4A):c.778G>A (p.Asp260Asn)
NM_175914.5(HNF4A):c.787G>C (p.Glu263Gln)
NM_175914.5(HNF4A):c.823C>T (p.Pro275Ser)
NM_175914.5(HNF4A):c.827-1G>A rs2146467548
NM_175914.5(HNF4A):c.869G>A (p.Arg290His) rs1191912908
NM_175914.5(HNF4A):c.926G>T (p.Arg309Leu) rs369429452
NM_175914.5(HNF4A):c.932G>A (p.Arg311His) rs1375557127
NM_175914.5(HNF4A):c.944TGC[6] (p.Leu319dup) rs776489992
NM_175914.5(HNF4A):c.968del (p.Gln323fs) rs1555817851
NM_181503.3(EXOSC8):c.734dup (p.Ala246fs) rs773616244
NM_181503.3(EXOSC8):c.89_91del (p.Gly30del) rs764339075
NM_194436.3(LDHD):c.1053G>T (p.Trp351Cys) rs1567502487
NM_198586.3(NHLRC1):c.1163_1164del (p.Lys388fs) rs1783731105
NM_198586.3(NHLRC1):c.137G>A (p.Cys46Tyr)
NM_198586.3(NHLRC1):c.377T>C (p.Leu126Pro)
NM_198586.3(NHLRC1):c.391G>A (p.Gly131Arg) rs967125703
NM_198586.3(NHLRC1):c.438C>A (p.Asp146Glu) rs200559475
NM_198586.3(NHLRC1):c.528C>G (p.Tyr176Ter) rs1403101337
NM_198586.3(NHLRC1):c.575A>T (p.Asp192Val) rs1194084403
Single allele
p.X466Trp
t(1;11)(p36.32;q13.2)

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