ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Baylor Genetics

Included ClinVar conditions (304):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2014
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309 0.04051
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307 0.00653
NM_005609.4(PYGM):c.645G>A (p.Lys215=) rs116315896 0.00530
NM_001064.4(TKT):c.541A>G (p.Ile181Val) rs17052920 0.00449
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519 0.00440
NM_018255.4(ELP2):c.2396C>T (p.Ala799Val) rs35629953 0.00409
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr) rs36027220 0.00400
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_004563.4(PCK2):c.1756G>A (p.Gly586Ser) rs61737098 0.00277
NM_014806.5(RUSC2):c.1418C>T (p.Pro473Leu) rs61740253 0.00257
NM_017721.5(CC2D1A):c.1234A>G (p.Ile412Val) rs191830054 0.00256
NM_020066.5(FMN2):c.4619C>T (p.Ser1540Leu) rs150801382 0.00221
NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln) rs146321088 0.00197
NM_005908.4(MANBA):c.2180C>T (p.Ser727Phe) rs147437033 0.00195
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_024824.5(ZC3H14):c.853A>T (p.Ser285Cys) rs145521296 0.00177
NM_021957.4(GYS2):c.1553A>C (p.Glu518Ala) rs150433001 0.00173
NM_000298.6(PKLR):c.814C>G (p.Leu272Val) rs147659527 0.00163
NM_017721.5(CC2D1A):c.1424C>T (p.Ser475Leu) rs143529486 0.00156
NM_015275.3(WASHC4):c.49G>A (p.Asp17Asn) rs191511427 0.00154
NM_000294.3(PHKG2):c.393G>A (p.Arg131=) rs55751949 0.00153
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_000199.5(SGSH):c.752G>C (p.Gly251Ala) rs144461610 0.00148
NM_001041.4(SI):c.1043C>T (p.Pro348Leu) rs77546399 0.00138
NM_000290.4(PGAM2):c.310G>A (p.Ala104Thr) rs150570281 0.00132
NM_001041.4(SI):c.1730T>G (p.Val577Gly) rs121912615 0.00131
NM_000262.3(NAGA):c.280G>A (p.Asp94Asn) rs73167107 0.00128
NM_003477.3(PDHX):c.589C>A (p.Leu197Met) rs139052284 0.00111
NM_004563.4(PCK2):c.1468+2T>C rs148019349 0.00110
NM_004130.4(GYG1):c.304G>C (p.Asp102His) rs143137713 0.00109
NM_017721.5(CC2D1A):c.15_23dup (p.7_9PPG[3]) rs755038966 0.00108
NM_198586.3(NHLRC1):c.46A>G (p.Met16Val) rs146636139 0.00108
NM_001160372.4(TRAPPC9):c.3149G>A (p.Arg1050Gln) rs111768745 0.00103
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690 0.00094
NM_002591.4(PCK1):c.7C>T (p.Pro3Ser) rs147120329 0.00091
NM_006618.5(KDM5B):c.2320A>G (p.Lys774Glu) rs141191327 0.00088
NM_145262.4(GLYCTK):c.384G>C (p.Met128Ile) rs150662353 0.00088
NM_016219.5(MAN1B1):c.304A>C (p.Ile102Leu) rs149322865 0.00087
NM_024989.4(PGAP1):c.2287G>A (p.Val763Ile) rs143960563 0.00081
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr) rs201826605 0.00080
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_000158.4(GBE1):c.691+2T>C rs192044702 0.00078
NM_024989.4(PGAP1):c.331A>G (p.Lys111Glu) rs142320636 0.00077
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678 0.00074
NM_001160372.4(TRAPPC9):c.263C>T (p.Ser88Leu) rs139631202 0.00072
NM_017721.5(CC2D1A):c.2657G>A (p.Arg886His) rs201921029 0.00072
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529 0.00067
NM_000642.3(AGL):c.334A>G (p.Ile112Val) rs147024351 0.00064
NM_014806.5(RUSC2):c.119C>A (p.Thr40Lys) rs146271483 0.00064
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943 0.00063
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020 0.00063
NM_017721.5(CC2D1A):c.1192G>A (p.Val398Met) rs201177183 0.00062
NM_145262.4(GLYCTK):c.791T>A (p.Val264Glu) rs73088796 0.00059
NM_018255.4(ELP2):c.1381C>A (p.Leu461Ile) rs35094617 0.00058
NM_001040716.2(PC):c.3107G>A (p.Arg1036His) rs141237842 0.00057
NM_000027.4(AGA):c.488G>C (p.Cys163Ser) rs121964904 0.00055
NM_003384.3(VRK1):c.858G>T (p.Met286Ile) rs139476915 0.00051
NM_006755.2(TALDO1):c.181C>G (p.Leu61Val) rs149640294 0.00051
NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys) rs80338794 0.00049
NM_000289.6(PFKM):c.1727A>T (p.Tyr576Phe) rs370424471 0.00048
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_016042.4(EXOSC3):c.448A>G (p.Thr150Ala) rs145464176 0.00048
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_000108.5(DLD):c.100A>G (p.Thr34Ala) rs138002793 0.00045
NM_020066.5(FMN2):c.575A>T (p.Gln192Leu) rs150505248 0.00044
NM_153747.2(PIGC):c.389C>T (p.Thr130Ile) rs146481462 0.00043
NM_001164277.2(SLC37A4):c.205G>T (p.Val69Leu) rs375754042 0.00042
NM_001370658.1(BTD):c.68A>G (p.His23Arg) rs146011150 0.00042
NM_032808.7(LINGO1):c.295G>A (p.Glu99Lys) rs150289554 0.00040
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635 0.00039
NM_001164277.2(SLC37A4):c.100G>A (p.Val34Ile) rs782644732 0.00039
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139 0.00039
NM_002637.4(PHKA1):c.536C>T (p.Ala179Val) rs199608903 0.00039
NM_003619.4(PRSS12):c.1238A>G (p.Asp413Gly) rs753349424 0.00039
NM_003619.4(PRSS12):c.37G>A (p.Gly13Arg) rs140334007 0.00039
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) rs200856561 0.00038
NM_001040616.3(LINS1):c.1993G>A (p.Gly665Arg) rs140140023 0.00037
NM_005327.7(HADH):c.349G>C (p.Val117Leu) rs146732064 0.00035
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175 0.00034
NM_001160372.4(TRAPPC9):c.3356G>A (p.Arg1119Gln) rs145503551 0.00034
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546 0.00033
NM_000528.4(MAN2B1):c.2701C>A (p.His901Asn) rs200033151 0.00031
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter) rs201337954 0.00031
NM_153747.2(PIGC):c.308T>C (p.Ile103Thr) rs61747503 0.00031
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp) rs76917243 0.00030
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671 0.00029
NM_014026.6(DCPS):c.550G>A (p.Ala184Thr) rs147353126 0.00029
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser) rs119103251 0.00027
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter) rs80356487 0.00026
NM_001160372.4(TRAPPC9):c.1564G>A (p.Ala522Thr) rs148453804 0.00026
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs) rs80356491 0.00026
NM_001160372.4(TRAPPC9):c.1898C>T (p.Ala633Val) rs375300224 0.00025
NM_001040716.2(PC):c.715A>G (p.Ile239Val) rs148805312 0.00024
NM_001160372.4(TRAPPC9):c.140G>A (p.Arg47Gln) rs147182402 0.00024
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu) rs146136265 0.00024
NM_012203.2(GRHPR):c.374G>A (p.Arg125Gln) rs199560759 0.00024
NM_017721.5(CC2D1A):c.2495C>G (p.Ala832Gly) rs187418052 0.00023
NM_000294.3(PHKG2):c.127C>T (p.His43Tyr) rs202177461 0.00022
NM_003619.4(PRSS12):c.2488_2489del (p.Met830fs) rs560855452 0.00022
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_000208.4(INSR):c.3193C>G (p.Leu1065Val) rs56395521 0.00021
NM_018255.4(ELP2):c.1331T>C (p.Leu444Ser) rs139040517 0.00021
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys) rs772731615 0.00020
NM_020066.5(FMN2):c.2200C>T (p.Arg734Trp) rs145706266 0.00020
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu) rs146762316 0.00019
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235 0.00019
NM_000152.5(GAA):c.693-4G>T rs200088236 0.00019
NM_004830.4(MED23):c.235C>T (p.Leu79Phe) rs151031376 0.00019
NM_021956.5(GRIK2):c.922G>A (p.Asp308Asn) rs767667188 0.00019
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys) rs118203943 0.00017
NM_000155.4(GALT):c.855G>T (p.Lys285Asn) rs111033773 0.00017
NM_003477.3(PDHX):c.1129A>G (p.Ile377Val) rs75430333 0.00017
NM_000030.3(AGXT):c.454T>A (p.Phe152Ile) rs121908524 0.00016
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990 0.00016
NM_001370658.1(BTD):c.410G>A (p.Arg137His) rs146015592 0.00016
NM_002863.5(PYGL):c.1582G>A (p.Asp528Asn) rs138461745 0.00016
NM_006755.2(TALDO1):c.982G>A (p.Glu328Lys) rs369679261 0.00016
NM_014415.4(ZBTB11):c.709G>A (p.Glu237Lys) rs199936012 0.00016
NM_014806.5(RUSC2):c.4078C>T (p.Arg1360Trp) rs200798902 0.00016
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221 0.00015
NM_001160372.4(TRAPPC9):c.3136C>T (p.Arg1046Trp) rs376617920 0.00015
NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter) rs766383135 0.00014
NM_001040616.3(LINS1):c.1013C>T (p.Ala338Val) rs763210104 0.00014
NM_001160372.4(TRAPPC9):c.3211G>A (p.Gly1071Ser) rs200963473 0.00014
NM_001352514.2(HLCS):c.1843G>C (p.Val615Leu) rs376210604 0.00014
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr) rs181396238 0.00014
NM_005536.4(IMPA1):c.379G>C (p.Glu127Gln) rs376742471 0.00014
NM_000343.4(SLC5A1):c.101T>C (p.Ile34Thr) rs139760182 0.00013
NM_001040616.3(LINS1):c.134C>T (p.Thr45Ile) rs144575104 0.00013
NM_004563.4(PCK2):c.287G>A (p.Arg96His) rs770940344 0.00013
NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter) rs201284672 0.00013
NM_001160372.4(TRAPPC9):c.2653G>A (p.Glu885Lys) rs138928835 0.00012
NM_003477.3(PDHX):c.622C>T (p.Arg208Trp) rs61752927 0.00012
NM_015028.4(TNIK):c.2869A>G (p.Met957Val) rs200347488 0.00012
NM_016219.5(MAN1B1):c.1789C>T (p.Arg597Trp) rs374963946 0.00012
NM_000030.3(AGXT):c.949C>T (p.Arg317Trp) rs774030578 0.00011
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) rs104894637 0.00011
NM_000343.4(SLC5A1):c.312+3G>A rs200776237 0.00011
NM_000525.4(KCNJ11):c.941G>A (p.Arg314His) rs145935651 0.00011
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter) rs12118058 0.00011
NM_001080510.5(METTL23):c.20C>T (p.Ala7Val) rs201999820 0.00011
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser) rs138818907 0.00011
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686 0.00011
NM_020066.5(FMN2):c.2297G>A (p.Arg766His) rs554313620 0.00011
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928 0.00010
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) rs118204429 0.00010
NM_000152.5(GAA):c.76C>T (p.Leu26Phe) rs149761650 0.00010
NM_000154.2(GALK1):c.766C>T (p.Arg256Trp) rs376790302 0.00010
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592 0.00010
NM_000298.6(PKLR):c.727G>A (p.Gly243Ser) rs745797890 0.00010
NM_001160372.4(TRAPPC9):c.940G>A (p.Ala314Thr) rs762765901 0.00010
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688 0.00010
NM_003619.4(PRSS12):c.1640C>A (p.Ala547Asp) rs201005601 0.00010
NM_005327.7(HADH):c.676T>C (p.Tyr226His) rs146036912 0.00010
NM_005609.4(PYGM):c.2447G>A (p.Arg816His) rs139230055 0.00010
NM_020066.5(FMN2):c.4123C>A (p.Leu1375Ile) rs146873580 0.00010
NM_021956.5(GRIK2):c.613C>T (p.Pro205Ser) rs56067702 0.00010
NM_000152.5(GAA):c.1979G>A (p.Arg660His) rs374143224 0.00009
NM_000154.2(GALK1):c.1144C>T (p.Gln382Ter) rs111033608 0.00009
NM_000642.3(AGL):c.4262A>G (p.Asp1421Gly) rs761264157 0.00009
NM_001080510.5(METTL23):c.250A>G (p.Ile84Val) rs527442928 0.00009
NM_001352514.2(HLCS):c.1974dup (p.Val659fs) rs767533946 0.00009
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102 0.00009
NM_001370658.1(BTD):c.262A>G (p.Ile88Val) rs976185636 0.00009
NM_002103.5(GYS1):c.1243G>A (p.Asp415Asn) rs573897595 0.00009
NM_005609.4(PYGM):c.-20C>T rs71581796 0.00009
NM_005609.4(PYGM):c.1403+5G>A rs373040789 0.00009
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln) rs373190458 0.00009
NM_005609.4(PYGM):c.425-26A>G rs764313717 0.00009
NM_015275.3(WASHC4):c.641A>G (p.Lys214Arg) rs369855750 0.00009
NM_000046.5(ARSB):c.454C>T (p.Arg152Trp) rs991104525 0.00008
NM_000152.5(GAA):c.1194+3G>C rs368539333 0.00008
NM_000152.5(GAA):c.1552-3C>G rs375470378 0.00008
NM_000152.5(GAA):c.533G>A (p.Arg178His) rs762267535 0.00008
NM_000152.5(GAA):c.853C>T (p.Pro285Ser) rs886042086 0.00008
NM_000528.4(MAN2B1):c.1830+1G>C rs80338677 0.00008
NM_001164277.2(SLC37A4):c.1015G>T (p.Gly339Cys) rs80356490 0.00008
NM_032808.7(LINGO1):c.70C>G (p.Gln24Glu) rs772748227 0.00008
NM_153747.2(PIGC):c.812G>A (p.Arg271His) rs370905635 0.00008
NM_000046.5(ARSB):c.667A>G (p.Ile223Val) rs367650121 0.00007
NM_000152.5(GAA):c.1048G>A (p.Val350Met) rs200412003 0.00007
NM_000152.5(GAA):c.1504A>G (p.Met502Val) rs376067362 0.00007
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser) rs375690568 0.00007
NM_000294.3(PHKG2):c.985C>T (p.Arg329Trp) rs367711698 0.00007
NM_000528.4(MAN2B1):c.2046+2T>A rs748712495 0.00007
NM_001370658.1(BTD):c.566G>A (p.Arg189His) rs398123139 0.00007
NM_002103.5(GYS1):c.1436C>T (p.Pro479Leu) rs144681053 0.00007
NM_003597.5(KLF11):c.266C>T (p.Ala89Val) rs766187124 0.00007
NM_003805.5(CRADD):c.497G>A (p.Arg166His) rs746685035 0.00007
NM_005609.4(PYGM):c.1768+1G>A rs771427957 0.00007
NM_012203.2(GRHPR):c.139C>T (p.Arg47Ter) rs774654020 0.00007
NM_012434.5(SLC17A5):c.1138_1139del (p.Val380fs) rs386833988 0.00007
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu) rs80338795 0.00007
NM_138501.6(TECR):c.262G>T (p.Val88Leu) rs753690636 0.00007
NM_000030.3(AGXT):c.167T>A (p.Ile56Asn) rs180177180 0.00006
NM_000030.3(AGXT):c.698G>A (p.Arg233His) rs121908527 0.00006
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr) rs121908525 0.00006
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys) rs121964992 0.00006
NM_000152.5(GAA):c.1124G>A (p.Arg375His) rs142752477 0.00006
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu) rs147327209 0.00006
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324 0.00006
NM_000152.5(GAA):c.761C>T (p.Ser254Leu) rs577915581 0.00006
NM_000152.5(GAA):c.953T>C (p.Met318Thr) rs121907936 0.00006
NM_000155.4(GALT):c.584T>C (p.Leu195Pro) rs111033728 0.00006
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter) rs137852888 0.00006
NM_000158.4(GBE1):c.785G>A (p.Arg262His) rs369574719 0.00006
NM_000289.6(PFKM):c.237+1G>A rs202143236 0.00006
NM_000290.4(PGAM2):c.755C>A (p.Ala252Asp) rs752958758 0.00006
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys) rs118204437 0.00006
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681 0.00006
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg) rs754733253 0.00006
NM_000642.3(AGL):c.188G>A (p.Arg63His) rs199958942 0.00006
NM_000642.3(AGL):c.2590C>T (p.Arg864Ter) rs113994130 0.00006
NM_000642.3(AGL):c.4260-12A>G rs369973784 0.00006
NM_001040616.3(LINS1):c.1481T>C (p.Ile494Thr) rs772460402 0.00006
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln) rs113994145 0.00006
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly) rs28934601 0.00006
NM_003477.3(PDHX):c.970A>G (p.Ile324Val) rs768103465 0.00006
NM_005271.5(GLUD1):c.1652A>G (p.Asn551Ser) rs373705613 0.00006
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg) rs144081869 0.00006
NM_012203.2(GRHPR):c.734+1G>A rs148049120 0.00006
NM_012434.5(SLC17A5):c.533del (p.Thr178fs) rs727504156 0.00006
NM_016219.5(MAN1B1):c.1724A>G (p.Asn575Ser) rs375378489 0.00006
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys) rs121908526 0.00005
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val) rs104894565 0.00005
NM_000152.5(GAA):c.1409A>C (p.Asn470Thr) rs144155165 0.00005
NM_000152.5(GAA):c.2408A>G (p.Gln803Arg) rs142487534 0.00005
NM_000152.5(GAA):c.2725G>A (p.Val909Met) rs138407065 0.00005
NM_000155.4(GALT):c.253-2A>G rs111033661 0.00005
NM_000158.4(GBE1):c.1544G>A (p.Arg515His) rs201958741 0.00005
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn) rs753472891 0.00005
NM_000292.3(PHKA2):c.4C>G (p.Arg2Gly) rs140014925 0.00005
NM_000925.4(PDHB):c.426A>G (p.Ile142Met) rs151247980 0.00005
NM_001370658.1(BTD):c.383G>A (p.Arg128His) rs367902696 0.00005
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys) rs369102875 0.00005
NM_001543.5(NDST1):c.389G>A (p.Arg130His) rs148227466 0.00005
NM_005609.4(PYGM):c.2178-1G>A rs143670942 0.00005
NM_012434.5(SLC17A5):c.719G>A (p.Trp240Ter) rs386833993 0.00005
NM_014806.5(RUSC2):c.3557G>A (p.Arg1186Gln) rs746338510 0.00005
NM_018444.4(PDP1):c.202G>A (p.Gly68Arg) rs374758737 0.00005
NM_020066.5(FMN2):c.2753C>T (p.Ala918Val) rs768693892 0.00005
NM_021957.4(GYS2):c.547C>T (p.Gln183Ter) rs201157731 0.00005
NM_024298.5(MBOAT7):c.1229T>C (p.Met410Thr) rs556354713 0.00005
NM_000030.3(AGXT):c.121G>A (p.Gly41Arg) rs121908523 0.00004
NM_000030.3(AGXT):c.568G>A (p.Gly190Arg) rs180177239 0.00004
NM_000030.3(AGXT):c.613T>C (p.Ser205Pro) rs121908520 0.00004
NM_000035.4(ALDOB):c.379+1G>T rs138121153 0.00004
NM_000046.5(ARSB):c.1178A>C (p.His393Pro) rs118203944 0.00004
NM_000046.5(ARSB):c.455G>A (p.Arg152Gln) rs776814144 0.00004
NM_000046.5(ARSB):c.971G>T (p.Gly324Val) rs398123125 0.00004
NM_000108.5(DLD):c.1382G>A (p.Gly461Glu) rs757275923 0.00004
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys) rs770610356 0.00004
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu) rs148842275 0.00004
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) rs140826989 0.00004
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro) rs779556619 0.00004
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer) rs781088002 0.00004
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu) rs28940868 0.00004
NM_000152.5(GAA):c.784G>A (p.Glu262Lys) rs201896815 0.00004
NM_000154.2(GALK1):c.1031C>T (p.Thr344Met) rs371517491 0.00004
NM_000154.2(GALK1):c.1045G>A (p.Gly349Ser) rs754967473 0.00004
NM_000155.4(GALT):c.1006A>T (p.Met336Leu) rs111033810 0.00004
NM_000155.4(GALT):c.512T>C (p.Phe171Ser) rs111033715 0.00004
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys) rs772802187 0.00004
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala) rs770427750 0.00004
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys) rs766938111 0.00004
NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys) rs772311757 0.00004
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp) rs777267343 0.00004
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser) rs143947056 0.00004
NM_000289.6(PFKM):c.298C>T (p.Arg100Ter) rs374547385 0.00004
NM_000293.3(PHKB):c.30A>C (p.Glu10Asp) rs760502380 0.00004
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00004
NM_000404.4(GLB1):c.176G>A (p.Arg59His) rs72555392 0.00004
NM_000642.3(AGL):c.3965del (p.Val1322fs) rs113994132 0.00004
NM_001136035.4(TRMT1):c.1833G>A (p.Glu611=) rs778368877 0.00004
NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter) rs121908979 0.00004
NM_001352514.2(HLCS):c.2260dup (p.Ser754fs) rs766163167 0.00004
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter) rs146448211 0.00004
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys) rs397514345 0.00004
NM_001370658.1(BTD):c.873del (p.Ser291fs) rs397514395 0.00004
NM_001543.5(NDST1):c.730C>T (p.Arg244Cys) rs375092472 0.00004
NM_005327.7(HADH):c.907G>A (p.Gly303Ser) rs201772964 0.00004
NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg) rs398124209 0.00004
NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln) rs150911354 0.00004
NM_014026.6(DCPS):c.329A>G (p.Asn110Ser) rs375853628 0.00004
NM_014026.6(DCPS):c.386C>T (p.Thr129Met) rs201550193 0.00004
NM_014026.6(DCPS):c.541G>A (p.Asp181Asn) rs772776014 0.00004
NM_014806.5(RUSC2):c.2132G>A (p.Arg711Gln) rs200756109 0.00004
NM_014806.5(RUSC2):c.3908A>G (p.Lys1303Arg) rs761728678 0.00004
NM_017721.5(CC2D1A):c.1442C>T (p.Ala481Val) rs201665162 0.00004
NM_017721.5(CC2D1A):c.1724G>A (p.Arg575His) rs760191095 0.00004
NM_021956.5(GRIK2):c.1138A>T (p.Thr380Ser) rs555425016 0.00004
NM_024298.5(MBOAT7):c.1366A>G (p.Lys456Glu) rs774928119 0.00004
NM_024824.5(ZC3H14):c.1133A>G (p.Lys378Arg) rs778564417 0.00004
NM_153747.2(PIGC):c.739A>G (p.Ser247Gly) rs751068367 0.00004
NM_000027.4(AGA):c.319C>T (p.Arg107Ter) rs765070743 0.00003
NM_000027.4(AGA):c.677G>A (p.Gly226Asp) rs386833431 0.00003
NM_000030.3(AGXT):c.139G>A (p.Gly47Arg) rs180177173 0.00003
NM_000030.3(AGXT):c.481G>T (p.Gly161Cys) rs180177227 0.00003
NM_000030.3(AGXT):c.847-3C>G rs180177286 0.00003
NM_000035.4(ALDOB):c.-11+1G>C rs181639417 0.00003
NM_000046.5(ARSB):c.1336+2T>G rs768012515 0.00003
NM_000108.5(DLD):c.1081A>G (p.Met361Val) rs121964993 0.00003
NM_000151.4(G6PC1):c.508C>T (p.Arg170Ter) rs373345919 0.00003
NM_000151.4(G6PC1):c.562G>C (p.Gly188Arg) rs80356482 0.00003
NM_000152.5(GAA):c.1316T>A (p.Met439Lys) rs747610090 0.00003
NM_000152.5(GAA):c.1909C>A (p.Leu637Met) rs763301606 0.00003
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp) rs776948121 0.00003
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172 0.00003
NM_000152.5(GAA):c.2132C>G (p.Thr711Arg) rs759292700 0.00003
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp) rs121907938 0.00003
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys) rs144016984 0.00003
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter) rs780321415 0.00003
NM_000152.5(GAA):c.2799+4A>G rs778032599 0.00003
NM_000152.5(GAA):c.307T>G (p.Cys103Gly) rs398123174 0.00003
NM_000152.5(GAA):c.503G>A (p.Arg168Gln) rs376685205 0.00003
NM_000152.5(GAA):c.546G>A (p.Thr182=) rs143523371 0.00003
NM_000152.5(GAA):c.877G>A (p.Gly293Arg) rs121907945 0.00003
NM_000152.5(GAA):c.925G>A (p.Gly309Arg) rs543300039 0.00003
NM_000154.2(GALK1):c.94G>A (p.Val32Met) rs104894576 0.00003
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys) rs111033814 0.00003
NM_000155.4(GALT):c.200G>A (p.Arg67His) rs758430398 0.00003
NM_000155.4(GALT):c.292G>A (p.Asp98Asn) rs111033670 0.00003
NM_000155.4(GALT):c.413C>T (p.Thr138Met) rs111033686 0.00003
NM_000155.4(GALT):c.442C>T (p.Arg148Trp) rs111033693 0.00003
NM_000155.4(GALT):c.602G>A (p.Arg201His) rs111033735 0.00003
NM_000158.4(GBE1):c.1571G>A (p.Arg524Gln) rs80338673 0.00003
NM_000158.4(GBE1):c.293T>G (p.Val98Gly) rs775486403 0.00003
NM_000158.4(GBE1):c.708G>C (p.Gln236His) rs137852892 0.00003
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg) rs144143780 0.00003
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639 0.00003
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter) rs374621913 0.00003
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) rs121965021 0.00003
NM_000308.4(CTSA):c.601-2A>G rs778159802 0.00003
NM_000545.8(HNF1A):c.827C>G (p.Ala276Gly) rs137853245 0.00003
NM_000642.3(AGL):c.16C>T (p.Gln6Ter) rs113994126 0.00003
NM_000642.3(AGL):c.4283A>C (p.Tyr1428Ser) rs150532164 0.00003
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter) rs387906244 0.00003
NM_000925.4(PDHB):c.301A>G (p.Met101Val) rs747573712 0.00003
NM_001040616.3(LINS1):c.2032C>T (p.Pro678Ser) rs771451811 0.00003
NM_001080510.5(METTL23):c.319G>A (p.Glu107Lys) rs778423082 0.00003
NM_001160372.4(TRAPPC9):c.1952C>T (p.Pro651Leu) rs143323381 0.00003
NM_001160372.4(TRAPPC9):c.3137G>A (p.Arg1046Gln) rs545480303 0.00003
NM_001164277.2(SLC37A4):c.446G>A (p.Gly149Glu) rs193302892 0.00003
NM_001352514.2(HLCS):c.1960+5G>A rs753887925 0.00003
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp) rs119103229 0.00003
NM_001352514.2(HLCS):c.2121+1G>A rs1175936807 0.00003
NM_001370658.1(BTD):c.1036_1037dup (p.Gly347fs) rs1004027979 0.00003
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu) rs397514427 0.00003
NM_001370658.1(BTD):c.1568A>T (p.Asp523Val) rs1050035768 0.00003
NM_001370658.1(BTD):c.322T>G (p.Phe108Val) rs397514355 0.00003
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375 0.00003
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser) rs397514377 0.00003
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176 0.00003
NM_002863.5(PYGL):c.2083G>A (p.Gly695Arg) rs368758632 0.00003
NM_003384.3(VRK1):c.356A>G (p.His119Arg) rs371295780 0.00003
NM_005327.7(HADH):c.706C>T (p.Arg236Ter) rs375717077 0.00003
NM_005609.4(PYGM):c.1190T>C (p.Leu397Pro) rs1005687078 0.00003
NM_005609.4(PYGM):c.1345G>A (p.Gly449Arg) rs769172044 0.00003
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp) rs780656375 0.00003
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter) rs767739769 0.00003
NM_006859.4(LIAS):c.877A>G (p.Met293Val) rs943564525 0.00003
NM_012203.2(GRHPR):c.905G>A (p.Arg302His) rs180177323 0.00003
NM_014026.6(DCPS):c.704C>T (p.Pro235Leu) rs151074136 0.00003
NM_016219.5(MAN1B1):c.1833_1834del (p.Asp613fs) rs1382373816 0.00003
NM_016219.5(MAN1B1):c.1895G>A (p.Arg632Gln) rs368503703 0.00003
NM_016219.5(MAN1B1):c.302A>G (p.Tyr101Cys) rs748988185 0.00003
NM_024735.5(FBXO31):c.996+4A>G rs765703905 0.00003
NM_024824.5(ZC3H14):c.1280-1856A>G rs538186371 0.00003
NM_145262.4(GLYCTK):c.1036C>G (p.Gln346Glu) rs773672318 0.00003
NM_000027.4(AGA):c.503G>A (p.Trp168Ter) rs386833430 0.00002
NM_000030.3(AGXT):c.106C>T (p.Arg36Cys) rs180177157 0.00002
NM_000030.3(AGXT):c.245G>A (p.Gly82Glu) rs121908522 0.00002
NM_000030.3(AGXT):c.346G>A (p.Gly116Arg) rs180177207 0.00002
NM_000030.3(AGXT):c.466G>A (p.Gly156Arg) rs121908530 0.00002
NM_000035.4(ALDOB):c.800-2A>C rs199965465 0.00002
NM_000046.5(ARSB):c.1143-1G>C rs431905495 0.00002
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr) rs118203941 0.00002
NM_000046.5(ARSB):c.305G>A (p.Arg102His) rs759356342 0.00002
NM_000046.5(ARSB):c.478C>T (p.Arg160Ter) rs1255777033 0.00002
NM_000108.5(DLD):c.1439T>C (p.Ile480Thr) rs140260331 0.00002
NM_000108.5(DLD):c.946C>T (p.Arg316Ter) rs748682601 0.00002
NM_000151.4(G6PC1):c.14T>G (p.Met5Arg) rs1250172816 0.00002
NM_000151.4(G6PC1):c.648G>T (p.Leu216=) rs80356484 0.00002
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val) rs80356483 0.00002
NM_000152.5(GAA):c.1076-22T>G rs762260678 0.00002
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg) rs772883420 0.00002
NM_000152.5(GAA):c.1634C>T (p.Pro545Leu) rs121907942 0.00002
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys) rs765362308 0.00002
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys) rs991082382 0.00002
NM_000152.5(GAA):c.1798C>T (p.Arg600Cys) rs764670084 0.00002
NM_000152.5(GAA):c.1831G>A (p.Gly611Ser) rs1278340100 0.00002
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp) rs757617999 0.00002
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg) rs28937909 0.00002
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln) rs778418246 0.00002
NM_000152.5(GAA):c.2407C>T (p.Gln803Ter) rs1344266804 0.00002
NM_000152.5(GAA):c.317G>A (p.Arg106His) rs772534106 0.00002
NM_000152.5(GAA):c.971C>T (p.Pro324Leu) rs750030887 0.00002
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys) rs111033744 0.00002
NM_000155.4(GALT):c.997C>G (p.Arg333Gly) rs111033800 0.00002
NM_000158.4(GBE1):c.1468del (p.Leu490fs) rs774465102 0.00002
NM_000158.4(GBE1):c.671T>C (p.Leu224Pro) rs137852886 0.00002
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp) rs774393243 0.00002
NM_000199.5(SGSH):c.1040C>T (p.Ser347Phe) rs780239925 0.00002
NM_000199.5(SGSH):c.1167C>A (p.Asn389Lys) rs764057581 0.00002
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg) rs761607612 0.00002
NM_000199.5(SGSH):c.383C>T (p.Pro128Leu) rs104894642 0.00002
NM_000203.5(IDUA):c.1349C>A (p.Pro450His) rs895626490 0.00002
NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu) rs751203469 0.00002
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys) rs753520553 0.00002
NM_000293.3(PHKB):c.1894A>G (p.Asn632Asp) rs530842640 0.00002
NM_000528.4(MAN2B1):c.1929-1G>T rs763100457 0.00002
NM_000528.4(MAN2B1):c.2013del (p.Pro671_Val672insTer) rs999923581 0.00002
NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter) rs121434331 0.00002
NM_000528.4(MAN2B1):c.2867T>G (p.Leu956Arg) rs768233248 0.00002
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter) rs113994129 0.00002
NM_000642.3(AGL):c.3635T>C (p.Met1212Thr) rs779439947 0.00002
NM_000925.4(PDHB):c.956A>T (p.Asp319Val) rs199983136 0.00002
NM_001164277.2(SLC37A4):c.1099G>A (p.Ala367Thr) rs80356492 0.00002
NM_001164277.2(SLC37A4):c.1179G>A (p.Trp393Ter) rs902775927 0.00002
NM_001164277.2(SLC37A4):c.460del (p.Ile154fs) rs769726248 0.00002
NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter) rs781784543 0.00002
NM_001271838.2(RSRC1):c.196C>T (p.Arg66Cys) rs772577036 0.00002
NM_001352514.2(HLCS):c.1529T>A (p.Val510Asp) rs769499327 0.00002
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys) rs781603756 0.00002
NM_001352514.2(HLCS):c.1985G>A (p.Ser662Asn) rs773398782 0.00002
NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter) rs772791252 0.00002
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn) rs119103228 0.00002
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn) rs397514367 0.00002
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr) rs397514369 0.00002
NM_001807.6(CEL):c.1402G>A (p.Ala468Thr) rs777913068 0.00002
NM_002103.5(GYS1):c.1303A>G (p.Thr435Ala) rs775775270 0.00002
NM_002299.4(LCT):c.5723G>A (p.Arg1908His) rs577825311 0.00002
NM_002863.5(PYGL):c.1768+1G>A rs113993982 0.00002
NM_003619.4(PRSS12):c.910G>A (p.Val304Ile) rs781361976 0.00002
NM_003754.3(EIF3F):c.908C>T (p.Thr303Ile) rs772380740 0.00002
NM_004830.4(MED23):c.2832dup (p.Val945fs) rs771485728 0.00002
NM_005609.4(PYGM):c.1366G>A (p.Val456Met) rs398124208 0.00002
NM_005609.4(PYGM):c.1768+2T>G rs747513238 0.00002
NM_005609.4(PYGM):c.1804C>T (p.Arg602Trp) rs750195683 0.00002
NM_005609.4(PYGM):c.1948C>T (p.Arg650Ter) rs114073621 0.00002
NM_005609.4(PYGM):c.252C>G (p.Tyr84Ter) rs1057517145 0.00002
NM_005609.4(PYGM):c.347T>C (p.Leu116Pro) rs776680924 0.00002
NM_005609.4(PYGM):c.481C>T (p.Arg161Cys) rs200038732 0.00002
NM_005908.4(MANBA):c.536A>G (p.Asn179Ser) rs202004084 0.00002
NM_012203.2(GRHPR):c.735-1G>A rs180177317 0.00002
NM_012434.5(SLC17A5):c.291G>A (p.Thr97=) rs386833990 0.00002
NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer) rs386833992 0.00002
NM_014806.5(RUSC2):c.1568G>A (p.Arg523His) rs753457122 0.00002
NM_014806.5(RUSC2):c.1747C>T (p.Arg583Trp) rs756124282 0.00002
NM_017721.5(CC2D1A):c.490C>T (p.Arg164Trp) rs781491587 0.00002
NM_018255.4(ELP2):c.178C>T (p.Arg60Ter) rs553697188 0.00002
NM_018255.4(ELP2):c.2045A>T (p.Lys682Met) rs113810922 0.00002
NM_021956.5(GRIK2):c.2310G>T (p.Met770Ile) rs745663188 0.00002
NM_021956.5(GRIK2):c.662G>A (p.Gly221Asp) rs745990822 0.00002
NM_024298.5(MBOAT7):c.1126G>A (p.Glu376Lys) rs758805684 0.00002
NM_024298.5(MBOAT7):c.854+8G>A rs751520193 0.00002
NM_030805.4(LMAN2L):c.652G>A (p.Val218Ile) rs753445500 0.00002
NM_031466.8(TRAPPC9):c.-249C>T rs1446002001 0.00002
NM_138501.6(TECR):c.161C>G (p.Pro54Arg) rs772297819 0.00002
NM_181503.3(EXOSC8):c.13T>C (p.Phe5Leu) rs200881798 0.00002
NM_000027.4(AGA):c.395-8A>G rs386833426 0.00001
NM_000027.4(AGA):c.508-2A>G rs986682657 0.00001
NM_000027.4(AGA):c.770C>T (p.Thr257Ile) rs386833434 0.00001
NM_000027.4(AGA):c.800dup (p.Pro268fs) rs386833436 0.00001
NM_000030.3(AGXT):c.1079G>A (p.Arg360Gln) rs180177161 0.00001
NM_000030.3(AGXT):c.107G>A (p.Arg36His) rs180177162 0.00001
NM_000030.3(AGXT):c.1084G>A (p.Gly362Ser) rs569643246 0.00001
NM_000030.3(AGXT):c.116_117dup (p.Ala40fs) rs180177166 0.00001
NM_000030.3(AGXT):c.122G>T (p.Gly41Val) rs180177168 0.00001
NM_000030.3(AGXT):c.215A>T (p.Asn72Ile) rs113879010 0.00001
NM_000030.3(AGXT):c.2T>C (p.Met1Thr) rs138584408 0.00001
NM_000030.3(AGXT):c.332G>A (p.Arg111Gln) rs180177203 0.00001
NM_000030.3(AGXT):c.603C>A (p.Asp201Glu) rs180177246 0.00001
NM_000030.3(AGXT):c.679_680+2del rs180177255 0.00001
NM_000030.3(AGXT):c.777-1G>C rs180177267 0.00001
NM_000030.3(AGXT):c.846+1G>T rs180177281 0.00001
NM_000030.3(AGXT):c.976del (p.Val326fs) rs180177301 0.00001
NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter) rs370793608 0.00001
NM_000046.5(ARSB):c.1336+1G>A rs376233975 0.00001
NM_000046.5(ARSB):c.1340G>C (p.Cys447Ser) rs1465993279 0.00001
NM_000046.5(ARSB):c.1350G>C (p.Trp450Cys) rs555785323 0.00001
NM_000046.5(ARSB):c.1366C>T (p.Gln456Ter) rs200188234 0.00001
NM_000046.5(ARSB):c.1449A>T (p.Glu483Asp) rs1064793027 0.00001
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg) rs397514441 0.00001
NM_000046.5(ARSB):c.262C>T (p.Gln88Ter) rs1299207831 0.00001
NM_000046.5(ARSB):c.349T>C (p.Cys117Arg) rs118203939 0.00001
NM_000046.5(ARSB):c.430G>A (p.Gly144Arg) rs746206847 0.00001
NM_000046.5(ARSB):c.499G>A (p.Gly167Arg) rs1554087999 0.00001
NM_000046.5(ARSB):c.571C>T (p.Arg191Ter) rs371886102 0.00001
NM_000046.5(ARSB):c.900T>A (p.Asp300Glu) rs1280123243 0.00001
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln) rs727503809 0.00001
NM_000108.5(DLD):c.104dup (p.Tyr35Ter) rs753234219 0.00001
NM_000108.5(DLD):c.1463C>T (p.Pro488Leu) rs121964988 0.00001
NM_000108.5(DLD):c.803_804del (p.Gln268fs) rs764611160 0.00001
NM_000151.4(G6PC1):c.209G>A (p.Trp70Ter) rs1567702823 0.00001
NM_000151.4(G6PC1):c.248G>A (p.Arg83His) rs1801176 0.00001
NM_000151.4(G6PC1):c.370G>A (p.Ala124Thr) rs104894568 0.00001
NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter) rs80356485 0.00001
NM_000152.5(GAA):c.1064T>C (p.Leu355Pro) rs766074609 0.00001
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu) rs755253527 0.00001
NM_000152.5(GAA):c.1210G>A (p.Asp404Asn) rs141533320 0.00001
NM_000152.5(GAA):c.1211A>G (p.Asp404Gly) rs886042961 0.00001
NM_000152.5(GAA):c.1327-2A>G rs1410829147 0.00001
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe) rs886043148 0.00001
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs) rs770276275 0.00001
NM_000152.5(GAA):c.1441del (p.Trp481fs) rs1403500889 0.00001
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg) rs770590394 0.00001
NM_000152.5(GAA):c.1556T>C (p.Met519Thr) rs786204720 0.00001
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys) rs121907937 0.00001
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser) rs773576381 0.00001
NM_000152.5(GAA):c.1626C>G (p.Pro542=) rs947585663 0.00001
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr) rs753505203 0.00001
NM_000152.5(GAA):c.1799G>A (p.Arg600His) rs377544304 0.00001
NM_000152.5(GAA):c.1802C>T (p.Ser601Leu) rs374470794 0.00001
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp) rs1393386120 0.00001
NM_000152.5(GAA):c.1822C>T (p.Arg608Ter) rs749529161 0.00001
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter) rs786204727 0.00001
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg) rs549029029 0.00001
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn) rs753269119 0.00001
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser) rs536906561 0.00001
NM_000152.5(GAA):c.1943G>A (p.Gly648Asp) rs1448515860 0.00001
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn) rs763456921 0.00001
NM_000152.5(GAA):c.1962_1964del (p.Glu656del) rs1030961946 0.00001
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp) rs757111744 0.00001
NM_000152.5(GAA):c.2040+1G>T rs1057516928 0.00001
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys) rs786204645 0.00001
NM_000152.5(GAA):c.2174G>A (p.Arg725Gln) rs577042191 0.00001
NM_000152.5(GAA):c.2331+2T>A rs1057517148 0.00001
NM_000152.5(GAA):c.2482-2A>G rs756671283 0.00001
NM_000152.5(GAA):c.2647-7G>A rs192679574 0.00001
NM_000152.5(GAA):c.2662G>T (p.Glu888Ter) rs765718882 0.00001
NM_000152.5(GAA):c.2706del (p.Lys903fs) rs1428358278 0.00001
NM_000152.5(GAA):c.2846T>A (p.Val949Asp) rs1245412108 0.00001
NM_000152.5(GAA):c.365del (p.Met122fs) rs786204661 0.00001
NM_000152.5(GAA):c.670C>T (p.Arg224Trp) rs757700700 0.00001
NM_000152.5(GAA):c.671G>A (p.Arg224Gln) rs200210219 0.00001
NM_000152.5(GAA):c.692+5G>T rs763027848 0.00001
NM_000152.5(GAA):c.743T>C (p.Leu248Pro) rs1443844938 0.00001
NM_000152.5(GAA):c.871C>T (p.Leu291Phe) rs773417785 0.00001
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys) rs1057516600 0.00001
NM_000154.2(GALK1):c.520G>A (p.Glu174Lys) rs1363497653 0.00001
NM_000154.2(GALK1):c.82C>A (p.Pro28Thr) rs104894572 0.00001
NM_000154.2(GALK1):c.841G>A (p.Val281Met) rs753571180 0.00001
NM_000154.2(GALK1):c.919_921del (p.Met307del) rs1247635972 0.00001
NM_000155.4(GALT):c.1014C>G (p.Gly338=) rs111033811 0.00001
NM_000155.4(GALT):c.1018G>A (p.Glu340Lys) rs111033806 0.00001
NM_000155.4(GALT):c.1138T>C (p.Ter380Arg) rs111033824 0.00001
NM_000155.4(GALT):c.142C>T (p.Arg48Cys) rs886042088 0.00001
NM_000155.4(GALT):c.199C>T (p.Arg67Cys) rs111033658 0.00001
NM_000155.4(GALT):c.252+1G>A rs768154316 0.00001
NM_000155.4(GALT):c.2T>G (p.Met1Arg) rs771702963 0.00001
NM_000155.4(GALT):c.307C>T (p.Gln103Ter) rs1225091358 0.00001
NM_000155.4(GALT):c.329-2A>C rs111033667 0.00001
NM_000155.4(GALT):c.367C>G (p.Arg123Gly) rs111033674 0.00001
NM_000155.4(GALT):c.377+2dup rs763662108 0.00001
NM_000155.4(GALT):c.379A>G (p.Lys127Glu) rs111033682 0.00001
NM_000155.4(GALT):c.425T>A (p.Met142Lys) rs111033695 0.00001
NM_000155.4(GALT):c.443G>A (p.Arg148Gln) rs111033694 0.00001
NM_000155.4(GALT):c.601C>T (p.Arg201Cys) rs111033739 0.00001
NM_000155.4(GALT):c.607G>A (p.Glu203Lys) rs111033736 0.00001
NM_000155.4(GALT):c.610C>T (p.Arg204Ter) rs111033737 0.00001
NM_000155.4(GALT):c.692G>A (p.Arg231His) rs111033754 0.00001
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217 0.00001
NM_000155.4(GALT):c.775C>T (p.Arg259Trp) rs786204763 0.00001
NM_000155.4(GALT):c.814C>T (p.Arg272Cys) rs111033766 0.00001
NM_000155.4(GALT):c.821-7A>G rs767337193 0.00001
NM_000155.4(GALT):c.883C>A (p.Pro295Thr) rs111033783 0.00001
NM_000155.4(GALT):c.938G>A (p.Trp313Ter) rs1410159094 0.00001
NM_000155.4(GALT):c.947G>A (p.Trp316Ter) rs111033790 0.00001
NM_000155.4(GALT):c.958G>A (p.Ala320Thr) rs111033795 0.00001
NM_000155.4(GALT):c.961C>T (p.His321Tyr) rs367543266 0.00001
NM_000155.4(GALT):c.974C>T (p.Pro325Leu) rs111033794 0.00001
NM_000155.4(GALT):c.982C>T (p.Arg328Cys) rs144993986 0.00001
NM_000155.4(GALT):c.983G>A (p.Arg328His) rs111033802 0.00001
NM_000155.4(GALT):c.998G>A (p.Arg333Gln) rs111033808 0.00001
NM_000158.4(GBE1):c.1064G>A (p.Arg355His) rs869312919 0.00001
NM_000158.4(GBE1):c.1239del (p.Asp413fs) rs758504480 0.00001
NM_000158.4(GBE1):c.1300C>T (p.Arg434Ter) rs781198373 0.00001
NM_000158.4(GBE1):c.1604A>G (p.Tyr535Cys) rs886058900 0.00001
NM_000158.4(GBE1):c.1621A>G (p.Asn541Asp) rs1703086906 0.00001
NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp) rs552094593 0.00001
NM_000158.4(GBE1):c.1694G>A (p.Arg565Gln) rs774619760 0.00001
NM_000158.4(GBE1):c.1803+2T>C rs539203557 0.00001
NM_000158.4(GBE1):c.1823_1824del (p.His608fs) rs1175447973 0.00001
NM_000158.4(GBE1):c.1883A>G (p.His628Arg) rs137852891 0.00001
NM_000158.4(GBE1):c.1909C>T (p.Arg637Ter) rs766935302 0.00001
NM_000158.4(GBE1):c.2052+2T>C rs375596642 0.00001
NM_000158.4(GBE1):c.2081T>A (p.Ile694Asn) rs1209123501 0.00001
NM_000158.4(GBE1):c.563A>C (p.His188Pro) rs773558446 0.00001
NM_000158.4(GBE1):c.771T>A (p.Phe257Leu) rs137852887 0.00001
NM_000158.4(GBE1):c.784C>T (p.Arg262Cys) rs137852893 0.00001
NM_000158.4(GBE1):c.895G>T (p.Gly299Ter) rs779475367 0.00001
NM_000158.4(GBE1):c.993-1G>T rs763016962 0.00001
NM_000175.5(GPI):c.1498G>A (p.Val500Ile) rs552424309 0.00001
NM_000175.5(GPI):c.640A>G (p.Thr214Ala) rs536683131 0.00001
NM_000181.4(GUSB):c.1521G>A (p.Trp507Ter) rs121918179 0.00001
NM_000188.3(HK1):c.2165G>A (p.Arg722Lys) rs1172702857 0.00001
NM_000188.3(HK1):c.2519C>T (p.Ala840Val) rs373871387 0.00001
NM_000199.5(SGSH):c.1093C>T (p.Gln365Ter) rs1459579613 0.00001
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys) rs104894640 0.00001
NM_000199.5(SGSH):c.1135del (p.Val379fs) rs777956287 0.00001
NM_000199.5(SGSH):c.1138C>T (p.Gln380Ter) rs1424242431 0.00001
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser) rs1555620214 0.00001
NM_000199.5(SGSH):c.1225C>T (p.Gln409Ter) rs1323958195 0.00001
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln) rs104894641 0.00001
NM_000199.5(SGSH):c.130G>A (p.Ala44Thr) rs1057521146 0.00001
NM_000199.5(SGSH):c.268G>A (p.Gly90Arg) rs774010006 0.00001
NM_000199.5(SGSH):c.416C>T (p.Thr139Met) rs775112689 0.00001
NM_000199.5(SGSH):c.448C>T (p.Arg150Trp) rs1479831530 0.00001
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln) rs104894638 0.00001
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys) rs529855742 0.00001
NM_000199.5(SGSH):c.545G>A (p.Arg182His) rs372911015 0.00001
NM_000199.5(SGSH):c.571G>A (p.Gly191Arg) rs753666460 0.00001
NM_000199.5(SGSH):c.582T>A (p.Cys194Ter) rs1555621659 0.00001
NM_000199.5(SGSH):c.629G>A (p.Trp210Ter) rs886041370 0.00001
NM_000199.5(SGSH):c.812C>T (p.Thr271Met) rs746776254 0.00001
NM_000199.5(SGSH):c.911G>T (p.Arg304Leu) rs745884647 0.00001
NM_000263.4(NAGLU):c.608G>A (p.Arg203Gln) rs904118831 0.00001
NM_000284.4(PDHA1):c.292-23A>G rs1057518702 0.00001
NM_000284.4(PDHA1):c.972G>A (p.Met324Ile) rs755945768 0.00001
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln) rs187131358 0.00001
NM_000289.6(PFKM):c.1191+1G>A rs746348793 0.00001
NM_000289.6(PFKM):c.1294C>T (p.Arg432Ter) rs41291965 0.00001
NM_000289.6(PFKM):c.1413-2A>G rs1430517061 0.00001
NM_000289.6(PFKM):c.1500+1G>A rs770066278 0.00001
NM_000289.6(PFKM):c.289G>A (p.Gly97Arg) rs768553877 0.00001
NM_000289.6(PFKM):c.292C>T (p.Arg98Ter) rs138893744 0.00001
NM_000343.4(SLC5A1):c.1673G>A (p.Arg558His) rs201799893 0.00001
NM_000352.6(ABCC8):c.3158G>A (p.Ser1053Asn) rs767123465 0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461 0.00001
NM_000528.4(MAN2B1):c.1117A>T (p.Lys373Ter) rs778554304 0.00001
NM_000528.4(MAN2B1):c.1259G>T (p.Gly420Val) rs772853856 0.00001
NM_000528.4(MAN2B1):c.1351G>T (p.Gly451Cys) rs368899357 0.00001
NM_000528.4(MAN2B1):c.1528-1G>A rs561991886 0.00001
NM_000528.4(MAN2B1):c.1645-1G>A rs938576591 0.00001
NM_000528.4(MAN2B1):c.1687G>T (p.Glu563Ter) rs1057516927 0.00001
NM_000528.4(MAN2B1):c.222C>A (p.Asp74Glu) rs746702002 0.00001
NM_000528.4(MAN2B1):c.2267+1G>A rs1022927322 0.00001
NM_000528.4(MAN2B1):c.2436+2T>C rs398123457 0.00001
NM_000528.4(MAN2B1):c.2820+1G>A rs768734132 0.00001
NM_000528.4(MAN2B1):c.422del (p.Asp141fs) rs778399351 0.00001
NM_000528.4(MAN2B1):c.562C>T (p.Arg188Ter) rs1429239930 0.00001
NM_000528.4(MAN2B1):c.598C>A (p.His200Asn) rs772108001 0.00001
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp) rs763257568 0.00001
NM_000528.4(MAN2B1):c.788C>T (p.Pro263Leu) rs746808159 0.00001
NM_000528.4(MAN2B1):c.856G>A (p.Glu286Lys) rs772562587 0.00001
NM_000642.3(AGL):c.100C>T (p.Arg34Ter) rs781580050 0.00001
NM_000642.3(AGL):c.1078C>T (p.His360Tyr) rs763554006 0.00001
NM_000642.3(AGL):c.1222C>T (p.Arg408Ter) rs113994128 0.00001
NM_000642.3(AGL):c.1571G>A (p.Arg524His) rs758182700 0.00001
NM_000642.3(AGL):c.1735+1G>T rs199922945 0.00001
NM_000642.3(AGL):c.1783C>T (p.Arg595Ter) rs765367405 0.00001
NM_000642.3(AGL):c.2023C>T (p.Arg675Trp) rs765749454 0.00001
NM_000642.3(AGL):c.22C>T (p.Arg8Ter) rs1057516870 0.00001
NM_000642.3(AGL):c.2309-1G>A rs786204481 0.00001
NM_000642.3(AGL):c.2723T>G (p.Leu908Arg) rs772347559 0.00001
NM_000642.3(AGL):c.2728C>T (p.Arg910Ter) rs773095419 0.00001
NM_000642.3(AGL):c.276del (p.Gln92fs) rs1057517243 0.00001
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter) rs531425980 0.00001
NM_000642.3(AGL):c.3350dup (p.Tyr1117Ter) rs1432024176 0.00001
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter) rs113994131 0.00001
NM_000642.3(AGL):c.3836+1G>A rs780883601 0.00001
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys) rs775685508 0.00001
NM_000642.3(AGL):c.595C>T (p.Gln199Ter) rs780694207 0.00001
NM_000642.3(AGL):c.664+3A>G rs370792293 0.00001
NM_000642.3(AGL):c.685C>T (p.Gln229Ter) rs971749992 0.00001
NM_000642.3(AGL):c.853C>T (p.Arg285Ter) rs755747010 0.00001
NM_000642.3(AGL):c.907C>T (p.Gln303Ter) rs145362161 0.00001
NM_000642.3(AGL):c.94C>T (p.Gln32Ter) rs786204489 0.00001
NM_001008216.2(GALE):c.449C>T (p.Thr150Met) rs765353795 0.00001
NM_001040616.3(LINS1):c.1487T>C (p.Leu496Ser) rs576126444 0.00001
NM_001040616.3(LINS1):c.661G>A (p.Asp221Asn) rs1567718073 0.00001
NM_001040716.2(PC):c.1-4C>A rs1313846853 0.00001
NM_001040716.2(PC):c.633+2T>C rs763433647 0.00001
NM_001040716.2(PC):c.806G>A (p.Arg269Gln) rs1349343839 0.00001
NM_001064.4(TKT):c.1540G>A (p.Glu514Lys) rs762983878 0.00001
NM_001160372.4(TRAPPC9):c.1625A>G (p.His542Arg) rs149274458 0.00001
NM_001160372.4(TRAPPC9):c.166C>T (p.Arg56Cys) rs1006238101 0.00001
NM_001160372.4(TRAPPC9):c.2854G>T (p.Glu952Ter) rs766614772 0.00001
NM_001164277.2(SLC37A4):c.1124+1G>T rs782630676 0.00001
NM_001164277.2(SLC37A4):c.287G>A (p.Trp96Ter) rs121908976 0.00001
NM_001164277.2(SLC37A4):c.352T>C (p.Trp118Arg) rs80356489 0.00001
NM_001164277.2(SLC37A4):c.381+2T>G rs782645078 0.00001
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg) rs193302883 0.00001
NM_001164277.2(SLC37A4):c.458C>T (p.Pro153Leu) rs193302890 0.00001
NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp) rs193302881 0.00001
NM_001164277.2(SLC37A4):c.652C>T (p.Gln218Ter) rs551439289 0.00001
NM_001164277.2(SLC37A4):c.82C>T (p.Arg28Cys) rs193302882 0.00001
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His) rs121908978 0.00001
NM_001164277.2(SLC37A4):c.898C>T (p.Arg300Cys) rs193302880 0.00001
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg) rs28934602 0.00001
NM_001352514.2(HLCS):c.1096dup (p.Ile366fs) rs773102942 0.00001
NM_001352514.2(HLCS):c.1621-2A>G rs750728042 0.00001
NM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser) rs119103230 0.00001
NM_001352514.2(HLCS):c.2451-1G>A rs1158898827 0.00001
NM_001352514.2(HLCS):c.2567C>T (p.Pro856Leu) rs1260631800 0.00001
NM_001370658.1(BTD):c.-17+2T>C rs745648160 0.00001
NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser) rs397514410 0.00001
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg) rs397514412 0.00001
NM_001370658.1(BTD):c.124G>A (p.Val42Met) rs397507170 0.00001
NM_001370658.1(BTD):c.1274G>T (p.Gly425Val) rs397514402 0.00001
NM_001370658.1(BTD):c.1324del (p.Arg442fs) rs397514420 0.00001
NM_001370658.1(BTD):c.1543C>G (p.Leu515Val) rs771537277 0.00001
NM_001370658.1(BTD):c.1553G>A (p.Arg518His) rs397514429 0.00001
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys) rs104893687 0.00001
NM_001370658.1(BTD):c.176G>A (p.Arg59His) rs397514343 0.00001
NM_001370658.1(BTD):c.197T>G (p.Met66Arg) rs587783002 0.00001
NM_001370658.1(BTD):c.250-15del rs587783008 0.00001
NM_001370658.1(BTD):c.281G>T (p.Gly94Val) rs375712490 0.00001
NM_001370658.1(BTD):c.320C>T (p.Pro107Leu) rs575787457 0.00001
NM_001370658.1(BTD):c.360G>A (p.Trp120Ter) rs1306944669 0.00001
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys) rs397514363 0.00001
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232 0.00001
NM_001370658.1(BTD):c.425C>T (p.Ala142Val) rs397514364 0.00001
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys) rs372844636 0.00001
NM_001370658.1(BTD):c.572G>A (p.Arg191His) rs112195009 0.00001
NM_001370658.1(BTD):c.583C>T (p.Leu195Phe) rs190386869 0.00001
NM_001370658.1(BTD):c.649G>A (p.Ala217Thr) rs397514381 0.00001
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr) rs397507175 0.00001
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr) rs397514382 0.00001
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr) rs397514384 0.00001
NM_001370658.1(BTD):c.754T>G (p.Trp252Gly) rs397514387 0.00001
NM_001370658.1(BTD):c.941_942del (p.Ile314fs) rs749162799 0.00001
NM_001543.5(NDST1):c.388C>T (p.Arg130Cys) rs746465319 0.00001
NM_001543.5(NDST1):c.883G>A (p.Val295Met) rs747017483 0.00001
NM_001715.3(BLK):c.677A>C (p.Gln226Pro) rs551088779 0.00001
NM_002076.4(GNS):c.531G>T (p.Lys177Asn) rs1435047831 0.00001
NM_002076.4(GNS):c.980A>G (p.Asn327Ser) rs778927646 0.00001
NM_002103.5(GYS1):c.1184C>T (p.Thr395Met) rs748765779 0.00001
NM_002103.5(GYS1):c.314G>A (p.Arg105His) rs775388088 0.00001
NM_002637.4(PHKA1):c.1384G>A (p.Val462Met) rs782400389 0.00001
NM_002863.5(PYGL):c.298A>G (p.Met100Val) rs1273055538 0.00001
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln) rs773138218 0.00001
NM_003805.5(CRADD):c.-2A>G rs1431834925 0.00001
NM_003805.5(CRADD):c.-6-7T>C rs756888040 0.00001
NM_004830.4(MED23):c.3980T>G (p.Leu1327Arg) rs751590798 0.00001
NM_005536.4(IMPA1):c.613A>G (p.Thr205Ala) rs149824165 0.00001
NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys) rs757681143 0.00001
NM_005609.4(PYGM):c.1193C>T (p.Pro398Leu) rs773204705 0.00001
NM_005609.4(PYGM):c.1239+1G>A rs759657964 0.00001
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu) rs756251887 0.00001
NM_005609.4(PYGM):c.1353dup (p.Ala452fs) rs779562449 0.00001
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp) rs377225525 0.00001
NM_005609.4(PYGM):c.1709G>A (p.Arg570Gln) rs143550601 0.00001
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) rs119103255 0.00001
NM_005609.4(PYGM):c.1827G>A (p.Lys609=) rs119103259 0.00001
NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys) rs119103253 0.00001
NM_005609.4(PYGM):c.2111C>T (p.Ala704Val) rs1483102315 0.00001
NM_005609.4(PYGM):c.2385_2386del (p.Glu797fs) rs750080547 0.00001
NM_005609.4(PYGM):c.280C>T (p.Arg94Trp) rs370247862 0.00001
NM_005609.4(PYGM):c.549G>A (p.Trp183Ter) rs1223885403 0.00001
NM_005609.4(PYGM):c.661-601G>A rs1474863903 0.00001
NM_005609.4(PYGM):c.78_79del (p.Glu27fs) rs755117847 0.00001
NM_005645.4(TAF13):c.122A>G (p.Tyr41Cys) rs773661572 0.00001
NM_005908.4(MANBA):c.1382C>T (p.Ala461Val) rs775701916 0.00001
NM_006618.5(KDM5B):c.3592G>A (p.Ala1198Thr) rs549414130 0.00001
NM_006618.5(KDM5B):c.895C>T (p.Arg299Ter) rs1558498928 0.00001
NM_006755.2(TALDO1):c.293A>T (p.Lys98Met) rs758756190 0.00001
NM_006755.2(TALDO1):c.574C>T (p.Arg192Cys) rs751425603 0.00001
NM_006765.4(TUSC3):c.308+3A>G rs778993933 0.00001
NM_012203.2(GRHPR):c.295C>T (p.Arg99Ter) rs119490108 0.00001
NM_012203.2(GRHPR):c.337G>A (p.Glu113Lys) rs180177307 0.00001
NM_012203.2(GRHPR):c.404+5G>A rs757796926 0.00001
NM_012203.2(GRHPR):c.454dup (p.Thr152fs) rs771019056 0.00001
NM_012203.2(GRHPR):c.478G>A (p.Gly160Arg) rs180177312 0.00001
NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp) rs180177314 0.00001
NM_012203.2(GRHPR):c.904C>T (p.Arg302Cys) rs180177322 0.00001
NM_012203.2(GRHPR):c.958G>T (p.Glu320Ter) rs1331106064 0.00001
NM_012434.5(SLC17A5):c.1016G>A (p.Trp339Ter) rs1057516910 0.00001
NM_012434.5(SLC17A5):c.1111+1G>A rs777862172 0.00001
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His) rs769235753 0.00001
NM_012434.5(SLC17A5):c.1259+1G>A rs146095590 0.00001
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs) rs1234745577 0.00001
NM_012434.5(SLC17A5):c.667dup (p.Tyr223fs) rs1472109408 0.00001
NM_014026.6(DCPS):c.201+4C>G rs746334180 0.00001
NM_014415.4(ZBTB11):c.1342A>C (p.Ser448Arg) rs760062265 0.00001
NM_014806.5(RUSC2):c.2324C>T (p.Ser775Leu) rs763555777 0.00001
NM_014806.5(RUSC2):c.2614C>T (p.Arg872Trp) rs201335495 0.00001
NM_014806.5(RUSC2):c.2959T>G (p.Ser987Ala) rs145303576 0.00001
NM_014806.5(RUSC2):c.3044G>A (p.Arg1015Gln) rs1041188721 0.00001
NM_015275.3(WASHC4):c.2767A>G (p.Met923Val) rs779313558 0.00001
NM_015275.3(WASHC4):c.443C>G (p.Ser148Cys) rs1880398314 0.00001
NM_016219.5(MAN1B1):c.1042G>T (p.Asp348Tyr) rs184782012 0.00001
NM_016219.5(MAN1B1):c.1428C>T (p.Gly476=) rs751469511 0.00001
NM_016219.5(MAN1B1):c.1765-20G>C rs1225685090 0.00001
NM_016219.5(MAN1B1):c.1811T>G (p.Leu604Arg) rs776114448 0.00001
NM_016219.5(MAN1B1):c.1897G>T (p.Val633Phe) rs777270726 0.00001
NM_016219.5(MAN1B1):c.1976T>G (p.Phe659Cys) rs756140103 0.00001
NM_016302.4(CRBN):c.433C>T (p.Arg145Ter) rs1302797003 0.00001
NM_017721.5(CC2D1A):c.1597A>G (p.Met533Val) rs529368098 0.00001
NM_017721.5(CC2D1A):c.1948C>T (p.Pro650Ser) rs746894472 0.00001
NM_018255.4(ELP2):c.2236T>C (p.Cys746Arg) rs1414536488 0.00001
NM_018255.4(ELP2):c.918A>T (p.Arg306Ser) rs1389450136 0.00001
NM_020066.5(FMN2):c.2240C>T (p.Ser747Phe) rs776610158 0.00001
NM_020066.5(FMN2):c.4865T>C (p.Ile1622Thr) rs1298917573 0.00001
NM_020066.5(FMN2):c.629A>G (p.Gln210Arg) rs1458799973 0.00001
NM_021956.5(GRIK2):c.1073G>T (p.Arg358Leu) rs560817419 0.00001
NM_024298.5(MBOAT7):c.968C>T (p.Thr323Met) rs139499369 0.00001
NM_024824.5(ZC3H14):c.311G>A (p.Arg104Gln) rs772949764 0.00001
NM_024989.4(PGAP1):c.1663C>T (p.Gln555Ter) rs755341613 0.00001
NM_024989.4(PGAP1):c.2357_2358insTA (p.Arg786fs) rs767774867 0.00001
GRCh37/hg19 Xq13.2(chrX:71801020-71804146)
NM_000027.4(AGA):c.101_107del (p.Trp34fs) rs759063638
NM_000027.4(AGA):c.10A>T (p.Lys4Ter)
NM_000027.4(AGA):c.127+1G>A rs1057516565
NM_000027.4(AGA):c.128-2A>C
NM_000027.4(AGA):c.128-2A>G rs2111022003
NM_000027.4(AGA):c.179G>A (p.Gly60Asp) rs121964907
NM_000027.4(AGA):c.192del (p.Cys64fs) rs1553994830
NM_000027.4(AGA):c.198_201del (p.Arg66fs)
NM_000027.4(AGA):c.200_201del (p.Glu67fs) rs386833420
NM_000027.4(AGA):c.200_201dup (p.Gln68fs)
NM_000027.4(AGA):c.282-2A>G
NM_000027.4(AGA):c.299G>A (p.Gly100Glu) rs386833421
NM_000027.4(AGA):c.302C>T (p.Ala101Val) rs121964908
NM_000027.4(AGA):c.325A>T (p.Lys109Ter)
NM_000027.4(AGA):c.329del (p.Asn110fs) rs764357395
NM_000027.4(AGA):c.333del (p.Ile112fs) rs1057517223
NM_000027.4(AGA):c.346C>T (p.Arg116Trp) rs386833423
NM_000027.4(AGA):c.365C>A (p.Thr122Lys) rs771563230
NM_000027.4(AGA):c.367_371del (p.Thr123fs) rs1736928101
NM_000027.4(AGA):c.375_376del (p.Leu126fs) rs386833425
NM_000027.4(AGA):c.375_378del (p.Thr125_Leu126insTer)
NM_000027.4(AGA):c.376del (p.Leu126fs) rs1553994755
NM_000027.4(AGA):c.389_390del (p.Glu130fs)
NM_000027.4(AGA):c.507+1G>C
NM_000027.4(AGA):c.537C>A (p.Cys179Ter) rs748171793
NM_000027.4(AGA):c.552del (p.Pro185fs)
NM_000027.4(AGA):c.595G>T (p.Glu199Ter) rs370078048
NM_000027.4(AGA):c.595_596del (p.Glu199fs)
NM_000027.4(AGA):c.698+1G>T rs1057517175
NM_000027.4(AGA):c.735dup (p.Tyr246fs)
NM_000027.4(AGA):c.755G>A (p.Gly252Glu) rs386833433
NM_000027.4(AGA):c.916T>C (p.Cys306Arg) rs121964906
NM_000027.4(AGA):c.941-1G>T
NM_000030.3(AGXT):c.1014C>A (p.Tyr338Ter)
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp) rs180177156
NM_000030.3(AGXT):c.1072-1G>A
NM_000030.3(AGXT):c.1161C>A (p.Cys387Ter)
NM_000030.3(AGXT):c.121G>C (p.Gly41Arg)
NM_000030.3(AGXT):c.126del (p.Leu43fs) rs180177171
NM_000030.3(AGXT):c.244G>C (p.Gly82Arg) rs180177185
NM_000030.3(AGXT):c.268dup (p.Leu90fs)
NM_000030.3(AGXT):c.283G>T (p.Glu95Ter)
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro) rs180177195
NM_000030.3(AGXT):c.322T>C (p.Trp108Arg) rs180177197
NM_000030.3(AGXT):c.327del (p.Gln110fs) rs180177200
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) rs34116584
NM_000030.3(AGXT):c.331C>T (p.Arg111Ter) rs180177202
NM_000030.3(AGXT):c.33del (p.Lys12fs) rs180177201
NM_000030.3(AGXT):c.33dup (p.Lys12fs) rs180177201
NM_000030.3(AGXT):c.374_381del (p.Pro125fs) rs2058986184
NM_000030.3(AGXT):c.423+1G>A rs1553648493
NM_000030.3(AGXT):c.433del (p.Gln145fs)
NM_000030.3(AGXT):c.447_454del (p.Leu151fs) rs180177221
NM_000030.3(AGXT):c.473C>T (p.Ser158Leu) rs180177225
NM_000030.3(AGXT):c.481G>A (p.Gly161Ser) rs180177227
NM_000030.3(AGXT):c.490C>T (p.Gln164Ter)
NM_000030.3(AGXT):c.517T>C (p.Cys173Arg) rs2106428650
NM_000030.3(AGXT):c.524+2T>A rs1553648568
NM_000030.3(AGXT):c.525-2A>T
NM_000030.3(AGXT):c.533G>A (p.Cys178Tyr) rs180177235
NM_000030.3(AGXT):c.570del (p.Thr191fs) rs180177240
NM_000030.3(AGXT):c.577del (p.Leu193fs) rs180177241
NM_000030.3(AGXT):c.577dup (p.Leu193fs) rs180177241
NM_000030.3(AGXT):c.614C>T (p.Ser205Leu) rs180177248
NM_000030.3(AGXT):c.662_664del (p.Ser221del) rs796052071
NM_000030.3(AGXT):c.737G>A (p.Trp246Ter) rs180177259
NM_000030.3(AGXT):c.751_752delinsAA (p.Trp251Lys) rs796052072
NM_000030.3(AGXT):c.757T>C (p.Cys253Arg) rs180177264
NM_000030.3(AGXT):c.807dup (p.Tyr270fs)
NM_000030.3(AGXT):c.823_824dup (p.Ser275fs) rs180177273
NM_000030.3(AGXT):c.846+1G>A rs180177281
NM_000030.3(AGXT):c.847-1G>C rs180177285
NM_000030.3(AGXT):c.848del
NM_000030.3(AGXT):c.983_988del (p.Ala328_Tyr330delinsAsp) rs180177302
NM_000035.4(ALDOB):c.1000-1_1006delinsTG rs2118333206
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys) rs78340951
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter) rs118204428
NM_000035.4(ALDOB):c.113-1G>C rs748663340
NM_000035.4(ALDOB):c.113-1_115del rs786204598
NM_000035.4(ALDOB):c.302del (p.Lys101fs) rs974582114
NM_000035.4(ALDOB):c.324+1G>A rs764826805
NM_000035.4(ALDOB):c.324+2T>A rs1057516379
NM_000035.4(ALDOB):c.331C>T (p.Gln111Ter) rs528914024
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs) rs387906225
NM_000035.4(ALDOB):c.379+1G>A rs138121153
NM_000035.4(ALDOB):c.43del (p.Glu15fs) rs1831209087
NM_000035.4(ALDOB):c.444G>A (p.Trp148Ter) rs1057516902
NM_000035.4(ALDOB):c.469C>T (p.Gln157Ter) rs1831149748
NM_000035.4(ALDOB):c.538C>T (p.Gln180Ter)
NM_000035.4(ALDOB):c.541-277_651delinsATGGGTT
NM_000035.4(ALDOB):c.541-2A>G
NM_000035.4(ALDOB):c.606C>A (p.Cys202Ter)
NM_000035.4(ALDOB):c.612T>G (p.Tyr204Ter) rs370793608
NM_000035.4(ALDOB):c.61C>T (p.Gln21Ter) rs2118366288
NM_000035.4(ALDOB):c.624+1G>A
NM_000035.4(ALDOB):c.625-2A>G rs786204503
NM_000035.4(ALDOB):c.673del (p.Glu225fs) rs758133069
NM_000035.4(ALDOB):c.742C>T (p.Gln248Ter)
NM_000035.4(ALDOB):c.799+2T>C
NM_000035.4(ALDOB):c.800-2A>G
NM_000035.4(ALDOB):c.865del (p.Leu289fs) rs864309533
NM_000046.5(ARSB):c.1060_1061del (p.Leu354fs)
NM_000046.5(ARSB):c.1088del (p.Gly363fs)
NM_000046.5(ARSB):c.108_120del (p.Ser37fs) rs1028653411
NM_000046.5(ARSB):c.113del (p.Gly38fs) rs1349838988
NM_000046.5(ARSB):c.1142+1G>T rs746396210
NM_000046.5(ARSB):c.1143-1G>A
NM_000046.5(ARSB):c.1178A>G (p.His393Arg) rs118203944
NM_000046.5(ARSB):c.1197C>G (p.Phe399Leu) rs200793396
NM_000046.5(ARSB):c.1214-2A>T rs1554069808
NM_000046.5(ARSB):c.123_139dup (p.Leu47fs) rs766772376
NM_000046.5(ARSB):c.1299dup (p.Arg434Ter) rs1355071930
NM_000046.5(ARSB):c.1314G>A (p.Trp438Ter)
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met) rs1057520739
NM_000046.5(ARSB):c.1337-1G>C
NM_000046.5(ARSB):c.1493T>C (p.Leu498Pro) rs774358117
NM_000046.5(ARSB):c.1534_1556del (p.Val512fs) rs1310996698
NM_000046.5(ARSB):c.1539C>A (p.Tyr513Ter)
NM_000046.5(ARSB):c.1558dup (p.Arg520fs)
NM_000046.5(ARSB):c.157G>A (p.Asp53Asn) rs1554032217
NM_000046.5(ARSB):c.173del (p.Asn58fs) rs1180759765
NM_000046.5(ARSB):c.237_243del (p.Val80fs) rs1554032134
NM_000046.5(ARSB):c.245T>G (p.Leu82Arg) rs749465732
NM_000046.5(ARSB):c.275C>A (p.Thr92Lys) rs751010538
NM_000046.5(ARSB):c.312+2T>G
NM_000046.5(ARSB):c.323G>T (p.Gly108Val) rs768802200
NM_000046.5(ARSB):c.427del (p.Val143fs) rs766914147
NM_000046.5(ARSB):c.438G>A (p.Trp146Ter) rs757061042
NM_000046.5(ARSB):c.479G>A (p.Arg160Gln) rs1196325597
NM_000046.5(ARSB):c.589C>T (p.Arg197Ter) rs773460207
NM_000046.5(ARSB):c.659del (p.Ile220fs)
NM_000046.5(ARSB):c.690+2T>C
NM_000046.5(ARSB):c.694_695del (p.Leu232fs)
NM_000046.5(ARSB):c.743del (p.Pro248fs) rs431905494
NM_000046.5(ARSB):c.753C>G (p.Tyr251Ter) rs765711776
NM_000046.5(ARSB):c.785dup (p.Asn262fs) rs749015246
NM_000046.5(ARSB):c.789del (p.Arg263fs)
NM_000046.5(ARSB):c.797A>C (p.Tyr266Ser) rs1554086402
NM_000046.5(ARSB):c.898+1G>A rs1751669303
NM_000046.5(ARSB):c.898+1G>T
NM_000046.5(ARSB):c.904G>A (p.Gly302Arg) rs779378413
NM_000046.5(ARSB):c.908G>A (p.Gly303Glu) rs1408739927
NM_000046.5(ARSB):c.936G>T (p.Trp312Cys) rs759384989
NM_000046.5(ARSB):c.943C>T (p.Arg315Ter) rs891298440
NM_000046.5(ARSB):c.979C>T (p.Arg327Ter) rs773492223
NM_000046.5(ARSB):c.982G>A (p.Gly328Arg)
NM_000108.5(DLD):c.1016del (p.Val339fs)
NM_000108.5(DLD):c.1047-1G>A
NM_000108.5(DLD):c.1058T>C (p.Ile353Thr) rs2116271469
NM_000108.5(DLD):c.105C>G (p.Tyr35Ter) rs747810875
NM_000108.5(DLD):c.105del (p.Thr34_Tyr35insTer) rs1554396895
NM_000108.5(DLD):c.1080_1086dup (p.Ala363fs)
NM_000108.5(DLD):c.1185dup (p.His396fs)
NM_000108.5(DLD):c.119-1G>T
NM_000108.5(DLD):c.1214C>A (p.Ser405Ter)
NM_000108.5(DLD):c.1214C>G (p.Ser405Ter)
NM_000108.5(DLD):c.1219G>T (p.Glu407Ter)
NM_000108.5(DLD):c.1233dup (p.Glu412fs)
NM_000108.5(DLD):c.13A>G (p.Ser5Gly)
NM_000108.5(DLD):c.1416_1422del (p.Tyr473fs) rs1214130226
NM_000108.5(DLD):c.1471T>C (p.Ser491Pro) rs2032348536
NM_000108.5(DLD):c.1483A>G (p.Arg495Gly) rs121964989
NM_000108.5(DLD):c.184C>T (p.Gln62Ter)
NM_000108.5(DLD):c.199-1G>A rs1554398264
NM_000108.5(DLD):c.217A>C (p.Asn73His) rs796051949
NM_000108.5(DLD):c.225_226del (p.Leu76fs)
NM_000108.5(DLD):c.40-2A>G
NM_000108.5(DLD):c.583-1G>C rs2032004082
NM_000108.5(DLD):c.632_633del (p.Lys211fs)
NM_000108.5(DLD):c.656T>C (p.Ile219Thr) rs2032006962
NM_000108.5(DLD):c.737del (p.Gly246fs)
NM_000108.5(DLD):c.821dup (p.Leu274fs) rs751883130
NM_000108.5(DLD):c.82dup (p.Ser28fs)
NM_000108.5(DLD):c.856_857del (p.Asp286fs)
NM_000108.5(DLD):c.943C>T (p.Arg315Ter)
NM_000151.4(G6PC1):c.241G>A (p.Gly81Arg) rs756632286
NM_000151.4(G6PC1):c.379_380dup (p.Tyr128fs) rs80356488
NM_000151.4(G6PC1):c.538C>T (p.Gln180Ter) rs1597990921
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser) rs80356482
NM_000151.4(G6PC1):c.59A>G (p.Gln20Arg) rs2056021410
NM_000151.4(G6PC1):c.792C>G (p.Asn264Lys) rs1555560149
NM_000151.4(G6PC1):c.79del (p.Gln27fs) rs80356479
NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter) rs780226142
NM_000152.5(GAA):c.1000G>A (p.Gly334Ser) rs886042960
NM_000152.5(GAA):c.1051del (p.Val351fs) rs786204507
NM_000152.5(GAA):c.1075+1G>T
NM_000152.5(GAA):c.1075+2T>C
NM_000152.5(GAA):c.1076-2A>G rs1057516290
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg) rs1555600061
NM_000152.5(GAA):c.1114C>T (p.His372Tyr) rs1555600070
NM_000152.5(GAA):c.1115A>T (p.His372Leu) rs1057516520
NM_000152.5(GAA):c.1117del (p.Leu373fs)
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu) rs142752477
NM_000152.5(GAA):c.1128_1129delinsC (p.Trp376fs) rs786204646
NM_000152.5(GAA):c.1143del (p.Ala382fs) rs757458607
NM_000152.5(GAA):c.1193del (p.Leu398fs) rs1057517286
NM_000152.5(GAA):c.1194+2T>G
NM_000152.5(GAA):c.1205G>A (p.Trp402Ter)
NM_000152.5(GAA):c.133del (p.Ser45fs)
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn) rs535644999
NM_000152.5(GAA):c.1377dup (p.Glu460fs) rs2039192386
NM_000152.5(GAA):c.1396dup (p.Val466fs)
NM_000152.5(GAA):c.1407del (p.Asn470fs)
NM_000152.5(GAA):c.1408_1410del (p.Asn470del) rs748893499
NM_000152.5(GAA):c.1410C>A (p.Asn470Lys) rs886043068
NM_000152.5(GAA):c.1437+1G>A rs1555600575
NM_000152.5(GAA):c.1438-1G>A
NM_000152.5(GAA):c.1438-1G>C rs147804176
NM_000152.5(GAA):c.1438-1G>T rs147804176
NM_000152.5(GAA):c.1445C>G (p.Pro482Arg) rs2039212985
NM_000152.5(GAA):c.1456G>C (p.Ala486Pro)
NM_000152.5(GAA):c.1494del (p.Trp498fs)
NM_000152.5(GAA):c.1555A>G (p.Met519Val) rs1598581919
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala) rs892129065
NM_000152.5(GAA):c.1579_1580del (p.Arg527fs) rs1291214871
NM_000152.5(GAA):c.1583G>C (p.Gly528Ala) rs794727016
NM_000152.5(GAA):c.1636+1G>A
NM_000152.5(GAA):c.1650dup (p.Thr551fs) rs766398206
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe) rs747150965
NM_000152.5(GAA):c.169C>T (p.Gln57Ter) rs1057516251
NM_000152.5(GAA):c.1703A>T (p.His568Leu) rs2143882997
NM_000152.5(GAA):c.1721T>C (p.Leu574Pro)
NM_000152.5(GAA):c.1780C>T (p.Arg594Cys) rs1428112902
NM_000152.5(GAA):c.1781G>A (p.Arg594His) rs775450536
NM_000152.5(GAA):c.1798del (p.Arg600fs)
NM_000152.5(GAA):c.1799G>T (p.Arg600Leu)
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp) rs374470794
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp) rs1057517105
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys) rs369531647
NM_000152.5(GAA):c.1841C>T (p.Thr614Met) rs369531647
NM_000152.5(GAA):c.1844G>A (p.Gly615Glu) rs1243515778
NM_000152.5(GAA):c.1853G>A (p.Trp618Ter)
NM_000152.5(GAA):c.1857C>G (p.Ser619Arg) rs914396317
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe) rs1024137874
NM_000152.5(GAA):c.1888+1G>A rs776325453
NM_000152.5(GAA):c.1903A>G (p.Asn635Asp) rs2143891559
NM_000152.5(GAA):c.1924G>T (p.Val642Phe)
NM_000152.5(GAA):c.1930_1936dup (p.Val646fs) rs748829376
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn) rs368438393
NM_000152.5(GAA):c.1933G>C (p.Asp645His) rs368438393
NM_000152.5(GAA):c.1933G>T (p.Asp645Tyr) rs368438393
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs) rs1567835781
NM_000152.5(GAA):c.2003_2013dup (p.Arg672fs)
NM_000152.5(GAA):c.2015G>T (p.Arg672Leu)
NM_000152.5(GAA):c.2021ACA[1] (p.Asn675del) rs786204621
NM_000152.5(GAA):c.2040+2T>G
NM_000152.5(GAA):c.2041-1G>A rs760731229
NM_000152.5(GAA):c.2066_2069del (p.Glu689fs)
NM_000152.5(GAA):c.2082del (p.Ala694_Met695insTer) rs2039287852
NM_000152.5(GAA):c.2095dup (p.Leu699fs) rs2143895928
NM_000152.5(GAA):c.2105G>T (p.Arg702Leu) rs398123172
NM_000152.5(GAA):c.2122del (p.His708fs)
NM_000152.5(GAA):c.2122dup (p.His708fs)
NM_000152.5(GAA):c.2136_2137del (p.Phe713fs) rs1555601780
NM_000152.5(GAA):c.2140del (p.His714fs) rs786204549
NM_000152.5(GAA):c.2161G>T (p.Glu721Ter) rs140376273
NM_000152.5(GAA):c.2167G>A (p.Val723Met) rs767247397
NM_000152.5(GAA):c.2185del (p.Leu729fs) rs1057516581
NM_000152.5(GAA):c.2189+2T>A
NM_000152.5(GAA):c.2213G>A (p.Trp738Ter) rs1057516327
NM_000152.5(GAA):c.2227C>T (p.Gln743Ter) rs1057516277
NM_000152.5(GAA):c.2228A>G (p.Gln743Arg) rs1567838823
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg) rs1479740763
NM_000152.5(GAA):c.2237G>A (p.Trp746Ter) rs752921215
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser) rs752921215
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter) rs1800312
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.2242G>T (p.Glu748Ter) rs1057516363
NM_000152.5(GAA):c.2242del (p.Glu748fs) rs777275355
NM_000152.5(GAA):c.2242dup (p.Glu748fs) rs777275355
NM_000152.5(GAA):c.2261dup (p.Val755fs) rs1555602648
NM_000152.5(GAA):c.2269C>T (p.Gln757Ter) rs200483245
NM_000152.5(GAA):c.2281delinsAT (p.Ala761fs) rs1057516924
NM_000152.5(GAA):c.2294G>A (p.Gly765Asp) rs1292367136
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser) rs144016984
NM_000152.5(GAA):c.2303C>G (p.Pro768Arg)
NM_000152.5(GAA):c.2303C>T (p.Pro768Leu)
NM_000152.5(GAA):c.2331+1G>A
NM_000152.5(GAA):c.2331+1G>C
NM_000152.5(GAA):c.2331+4A>G
NM_000152.5(GAA):c.2332-1G>A
NM_000152.5(GAA):c.236_246del (p.Pro79fs) rs1057517165
NM_000152.5(GAA):c.2408_2426del (p.Gln803fs) rs763048948
NM_000152.5(GAA):c.2476del (p.Leu826fs)
NM_000152.5(GAA):c.2481+110_2646+39del rs1598592604
NM_000152.5(GAA):c.2544del (p.Lys849fs) rs398123173
NM_000152.5(GAA):c.258del (p.Asn87fs) rs761317813
NM_000152.5(GAA):c.258dup (p.Asn87fs) rs761317813
NM_000152.5(GAA):c.2644_2645insT (p.Asn882fs)
NM_000152.5(GAA):c.2655_2656delinsT (p.Ile885_Val886insTer)
NM_000152.5(GAA):c.2672del (p.Arg891fs)
NM_000152.5(GAA):c.2701del (p.Leu901fs)
NM_000152.5(GAA):c.2723del (p.Gly908fs)
NM_000152.5(GAA):c.276C>A (p.Cys92Ter) rs1232001857
NM_000152.5(GAA):c.2799+2C>G
NM_000152.5(GAA):c.2815_2816del (p.Val939fs) rs763359208
NM_000152.5(GAA):c.323G>A (p.Cys108Tyr)
NM_000152.5(GAA):c.340_341insT (p.Lys114fs) rs2143827701
NM_000152.5(GAA):c.361C>T (p.Gln121Ter) rs750668627
NM_000152.5(GAA):c.371_381del (p.Gln124fs)
NM_000152.5(GAA):c.378G>A (p.Trp126Ter) rs2039041225
NM_000152.5(GAA):c.389del (p.Pro130fs)
NM_000152.5(GAA):c.396dup (p.Tyr133fs)
NM_000152.5(GAA):c.437del (p.Met146fs) rs1555598869
NM_000152.5(GAA):c.465dup (p.Thr156fs)
NM_000152.5(GAA):c.482_483del (p.Pro161fs) rs764750389
NM_000152.5(GAA):c.490_524del (p.Asp163_Ile164insTer)
NM_000152.5(GAA):c.511del (p.Asp170_Val171insTer) rs2143829478
NM_000152.5(GAA):c.546+5G>T rs756024023
NM_000152.5(GAA):c.546G>C (p.Thr182=) rs143523371
NM_000152.5(GAA):c.546G>T (p.Thr182=) rs143523371
NM_000152.5(GAA):c.569G>A (p.Arg190His) rs528367092
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter) rs376229714
NM_000152.5(GAA):c.692+2T>C rs1555599171
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs) rs786204532
NM_000152.5(GAA):c.796C>T (p.Pro266Ser) rs1555599667
NM_000152.5(GAA):c.84dup (p.His29fs)
NM_000152.5(GAA):c.854C>G (p.Pro285Arg) rs764622267
NM_000152.5(GAA):c.858+1G>A
NM_000152.5(GAA):c.859-2A>G rs2143848897
NM_000152.5(GAA):c.873_874del (p.Tyr292fs)
NM_000152.5(GAA):c.989G>A (p.Trp330Ter) rs1555599960
NM_000152.5(GAA):c.[2228A>G;2237G>C]
NM_000154.2(GALK1):c.1017T>A (p.Tyr339Ter) rs1026685248
NM_000154.2(GALK1):c.1083_1096delinsATG (p.Pro362fs) rs2061563475
NM_000154.2(GALK1):c.1150G>C (p.Ala384Pro)
NM_000154.2(GALK1):c.130C>T (p.His44Tyr) rs1555748926
NM_000154.2(GALK1):c.166-5_227dup rs2143605351
NM_000154.2(GALK1):c.265C>T (p.Gln89Ter) rs2143605190
NM_000154.2(GALK1):c.355+1G>A
NM_000154.2(GALK1):c.364del (p.Leu122fs) rs2061596711
NM_000154.2(GALK1):c.410del (p.Gly137fs) rs767329054
NM_000154.2(GALK1):c.410dup (p.Gly138fs) rs767329054
NM_000154.2(GALK1):c.510T>A (p.Cys170Ter) rs775843885
NM_000154.2(GALK1):c.514C>T (p.Gln172Ter) rs767799179
NM_000154.2(GALK1):c.547_562del (p.Gly183fs)
NM_000154.2(GALK1):c.580C>T (p.Gln194Ter)
NM_000154.2(GALK1):c.708C>A (p.Tyr236Ter)
NM_000154.2(GALK1):c.775C>T (p.Gln259Ter) rs1599335132
NM_000154.2(GALK1):c.793+2T>G
NM_000154.2(GALK1):c.818_819del (p.Glu273fs)
NM_000154.2(GALK1):c.847_860dup (p.Thr288fs)
NM_000154.2(GALK1):c.853_874del (p.Ile285fs) rs770087254
NM_000154.2(GALK1):c.901A>T (p.Arg301Ter)
NM_000155.3(GALT):c.790_792invCTA (p.Leu264Ter)
NM_000155.4(GALT):c.1052del (p.Pro351fs) rs111033813
NM_000155.4(GALT):c.1057C>T (p.Gln353Ter) rs111033818
NM_000155.4(GALT):c.1060-2A>G
NM_000155.4(GALT):c.1087G>A (p.Glu363Lys) rs367543273
NM_000155.4(GALT):c.1087G>T (p.Glu363Ter)
NM_000155.4(GALT):c.152G>T (p.Arg51Leu) rs111033648
NM_000155.4(GALT):c.165_174del (p.Gln56fs)
NM_000155.4(GALT):c.18del (p.Asp7fs) rs111033638
NM_000155.4(GALT):c.20del (p.Asp7fs)
NM_000155.4(GALT):c.213dup (p.Asn72fs)
NM_000155.4(GALT):c.221T>C (p.Leu74Pro) rs111033663
NM_000155.4(GALT):c.267C>G (p.Tyr89Ter)
NM_000155.4(GALT):c.278T>C (p.Phe93Ser) rs1821135918
NM_000155.4(GALT):c.290A>G (p.Asn97Ser) rs111033669
NM_000155.4(GALT):c.292G>C (p.Asp98His) rs111033670
NM_000155.4(GALT):c.29_48delinsGACC (p.Gln10fs) rs1587236467
NM_000155.4(GALT):c.367C>T (p.Arg123Ter) rs111033674
NM_000155.4(GALT):c.368G>A (p.Arg123Gln) rs111033675
NM_000155.4(GALT):c.37C>T (p.Gln13Ter)
NM_000155.4(GALT):c.400del (p.Trp134fs) rs111033689
NM_000155.4(GALT):c.404C>G (p.Ser135Trp) rs111033690
NM_000155.4(GALT):c.41delinsTT (p.Ala14fs) rs111033634
NM_000155.4(GALT):c.428C>T (p.Ser143Leu) rs111033697
NM_000155.4(GALT):c.450del (p.Val151fs)
NM_000155.4(GALT):c.502G>T (p.Val168Leu) rs367543258
NM_000155.4(GALT):c.505C>A (p.Gln169Lys) rs111033709
NM_000155.4(GALT):c.507G>C (p.Gln169His)
NM_000155.4(GALT):c.513del (p.Phe171fs) rs886044409
NM_000155.4(GALT):c.550dup (p.His184fs)
NM_000155.4(GALT):c.552C>A (p.His184Gln) rs111033717
NM_000155.4(GALT):c.562C>T (p.Gln188Ter) rs398123182
NM_000155.4(GALT):c.565_578del
NM_000155.4(GALT):c.598del (p.Gln200fs) rs111033738
NM_000155.4(GALT):c.616C>T (p.Gln206Ter) rs1554709366
NM_000155.4(GALT):c.626A>C (p.Tyr209Ser) rs111033744
NM_000155.4(GALT):c.634C>T (p.Gln212Ter) rs111033746
NM_000155.4(GALT):c.667C>A (p.Arg223Ser) rs111033750
NM_000155.4(GALT):c.719_728del (p.Leu240fs) rs111033838
NM_000155.4(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000155.4(GALT):c.815G>A (p.Arg272His) rs111033831
NM_000155.4(GALT):c.821-2A>G rs111033767
NM_000155.4(GALT):c.823C>G (p.Leu275Val) rs796051967
NM_000155.4(GALT):c.894G>A (p.Met298Ile) rs1821187550
NM_000155.4(GALT):c.900G>A (p.Trp300Ter) rs1034185619
NM_000155.4(GALT):c.904+1G>T rs367543271
NM_000155.4(GALT):c.912_913insGA (p.Thr305fs)
NM_000155.4(GALT):c.957C>A (p.His319Gln) rs111033792
NM_000155.4(GALT):c.997C>T (p.Arg333Trp) rs111033800
NM_000158.4(GBE1):c.*12T>C
NM_000158.4(GBE1):c.1000del (p.Ile334fs)
NM_000158.4(GBE1):c.1053del (p.Phe351fs)
NM_000158.4(GBE1):c.1141_1142del (p.Phe381fs)
NM_000158.4(GBE1):c.1269_1270insC (p.Ile424fs)
NM_000158.4(GBE1):c.1276C>T (p.Gln426Ter)
NM_000158.4(GBE1):c.1336-1G>A rs375253942
NM_000158.4(GBE1):c.1364G>A (p.Trp455Ter)
NM_000158.4(GBE1):c.1365G>A (p.Trp455Ter)
NM_000158.4(GBE1):c.143+1G>A rs397515343
NM_000158.4(GBE1):c.143+2T>C rs2107250439
NM_000158.4(GBE1):c.1443delinsCGC (p.Gln482fs)
NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys) rs80338672
NM_000158.4(GBE1):c.1612T>G (p.Phe538Val)
NM_000158.4(GBE1):c.1618+1G>A rs1703670302
NM_000158.4(GBE1):c.1671dup (p.Glu558Ter)
NM_000158.4(GBE1):c.1675_1676del (p.Ser559fs)
NM_000158.4(GBE1):c.167del (p.Ile55_Leu56insTer)
NM_000158.4(GBE1):c.1680C>A (p.Tyr560Ter) rs1559637815
NM_000158.4(GBE1):c.1706del (p.His568_Leu569insTer) rs1367364158
NM_000158.4(GBE1):c.1738del (p.Phe579_Leu580insTer)
NM_000158.4(GBE1):c.1788G>A (p.Trp596Ter) rs201029706
NM_000158.4(GBE1):c.1799_1803+8del
NM_000158.4(GBE1):c.1804-2A>T rs1224090803
NM_000158.4(GBE1):c.1825G>T (p.Glu609Ter) rs772802187
NM_000158.4(GBE1):c.1934+1A>G
NM_000158.4(GBE1):c.1934+2T>C
NM_000158.4(GBE1):c.1935-1C>A
NM_000158.4(GBE1):c.1935-1C>T rs1475447884
NM_000158.4(GBE1):c.2052+1G>A rs2106809795
NM_000158.4(GBE1):c.2052+1G>T rs2106809795
NM_000158.4(GBE1):c.22G>A (p.Ala8Thr)
NM_000158.4(GBE1):c.232G>A (p.Val78Ile)
NM_000158.4(GBE1):c.288del (p.Gly97fs) rs1057517315
NM_000158.4(GBE1):c.321G>A (p.Trp107Ter) rs2107114808
NM_000158.4(GBE1):c.336C>A (p.Tyr112Ter) rs773473771
NM_000158.4(GBE1):c.430-1G>C
NM_000158.4(GBE1):c.47del (p.Ala16fs) rs2107250805
NM_000158.4(GBE1):c.480G>A (p.Trp160Ter) rs776943352
NM_000158.4(GBE1):c.505del (p.Asp169fs) rs1370223073
NM_000158.4(GBE1):c.556-2A>G
NM_000158.4(GBE1):c.691+5G>C rs397515344
NM_000158.4(GBE1):c.753C>G (p.Tyr251Ter)
NM_000158.4(GBE1):c.754C>T (p.Gln252Ter)
NM_000158.4(GBE1):c.755_756delinsC (p.Gln252fs)
NM_000158.4(GBE1):c.791G>A (p.Gly264Glu) rs754525424
NM_000158.4(GBE1):c.854T>G (p.Leu285Ter)
NM_000158.4(GBE1):c.872_874delinsTT (p.His291fs)
NM_000158.4(GBE1):c.909_912del (p.Phe303fs) rs2107059544
NM_000158.4(GBE1):c.957_958insCTAT (p.Asp320delinsLeuTer)
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser) rs80338671
NM_000158.4(GBE1):c.992+2T>G rs772349876
NM_000158.4(GBE1):c.993-1dup
NM_000158.4(GBE1):c.993-2A>G
NM_000158.4(GBE1):c.998A>T (p.Glu333Val) rs1553684545
NM_000162.5(GCK):c.1155del (p.Leu386fs) rs1400535021
NM_000162.5(GCK):c.391T>C (p.Ser131Pro) rs104894010
NM_000162.5(GCK):c.683C>T (p.Thr228Met) rs80356655
NM_000162.5(GCK):c.692A>T (p.Asn231Ile)
NM_000175.5(GPI):c.1595G>C (p.Ser532Thr) rs139035514
NM_000188.3(HK1):c.1871dup (p.Ala625fs) rs754451671
NM_000199.5(SGSH):c.1000dup (p.Ala334fs)
NM_000199.5(SGSH):c.1027dup (p.Leu343fs) rs778700037
NM_000199.5(SGSH):c.1042_1055delinsA (p.Leu348fs)
NM_000199.5(SGSH):c.1062del (p.Glu355fs)
NM_000199.5(SGSH):c.1063G>T (p.Glu355Ter)
NM_000199.5(SGSH):c.1069dup (p.Leu357fs)
NM_000199.5(SGSH):c.1073G>A (p.Trp358Ter)
NM_000199.5(SGSH):c.1080del (p.Val361fs) rs770947426
NM_000199.5(SGSH):c.1085_1086del (p.Phe362fs)
NM_000199.5(SGSH):c.1091_1103del (p.Ser364fs) rs1567915763
NM_000199.5(SGSH):c.1130G>A (p.Arg377His) rs746037899
NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.His381_Arg382insGlnArg) rs398123244
NM_000199.5(SGSH):c.1218del (p.Thr407fs)
NM_000199.5(SGSH):c.1228_1241del (p.Asp410fs)
NM_000199.5(SGSH):c.1272_1282del (p.Tyr424_Arg428delinsTer) rs752914124
NM_000199.5(SGSH):c.1317C>A (p.Tyr439Ter)
NM_000199.5(SGSH):c.1345del (p.Gln449fs) rs1466245913
NM_000199.5(SGSH):c.1375C>T (p.Gln459Ter) rs1567914459
NM_000199.5(SGSH):c.1380del (p.Leu461fs) rs1555620092
NM_000199.5(SGSH):c.216del (p.Ser73fs) rs1555622888
NM_000199.5(SGSH):c.221G>A (p.Arg74His) rs778336949
NM_000199.5(SGSH):c.235A>C (p.Thr79Pro) rs779703983
NM_000199.5(SGSH):c.267C>A (p.Tyr89Ter) rs1479456289
NM_000199.5(SGSH):c.356-29_380del
NM_000199.5(SGSH):c.466A>T (p.Lys156Ter) rs2041818115
NM_000199.5(SGSH):c.490C>T (p.Gln164Ter) rs1598749661
NM_000199.5(SGSH):c.506+1G>A rs763063355
NM_000199.5(SGSH):c.535G>A (p.Asp179Asn)
NM_000199.5(SGSH):c.617G>C (p.Arg206Pro) rs104894643
NM_000199.5(SGSH):c.645C>A (p.Tyr215Ter)
NM_000199.5(SGSH):c.670del (p.Tyr224fs)
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu) rs34520362
NM_000199.5(SGSH):c.691_698del (p.Ala231fs)
NM_000199.5(SGSH):c.693_705del (p.Ala232fs) rs2041772144
NM_000199.5(SGSH):c.733C>T (p.Arg245Cys) rs1455698449
NM_000199.5(SGSH):c.745+1G>C rs748525651
NM_000199.5(SGSH):c.757del (p.Val253fs) rs760281672
NM_000199.5(SGSH):c.7_16del (p.Cys3fs)
NM_000199.5(SGSH):c.823G>A (p.Gly275Arg) rs765361603
NM_000199.5(SGSH):c.866_867del (p.Gly289fs)
NM_000199.5(SGSH):c.909del (p.Lys303fs) rs775136193
NM_000199.5(SGSH):c.949+1G>A
NM_000202.8(IDS):c.404A>G (p.Lys135Arg) rs104894861
NM_000202.8(IDS):c.525T>A (p.Asp175Glu) rs2089452549
NM_000202.8(IDS):c.575C>G (p.Pro192Arg)
NM_000203.5(IDUA):c.1206G>A (p.Trp402Ter) rs991612107
NM_000203.5(IDUA):c.1477C>A (p.Pro493Thr) rs894585162
NM_000203.5(IDUA):c.525G>A (p.Trp175Ter) rs776305028
NM_000263.4(NAGLU):c.100G>C (p.Ala34Pro) rs2092906031
NM_000263.4(NAGLU):c.1314G>C (p.Met438Ile) rs886493431
NM_000263.4(NAGLU):c.14C>T (p.Ala5Val) rs2092905670
NM_000263.4(NAGLU):c.9GGTGGC[3] (p.4VA[3]) rs1024697806
NM_000284.4(PDHA1):c.1026_1039del (p.Arg343fs) rs1569194036
NM_000284.4(PDHA1):c.1035_1036dup (p.Ile346fs) rs2063245185
NM_000284.4(PDHA1):c.265G>A (p.Gly89Ser) rs1569190092
NM_000284.4(PDHA1):c.427G>A (p.Gly143Arg) rs1057518695
NM_000284.4(PDHA1):c.482A>G (p.Tyr161Cys) rs1569190962
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser) rs1555933963
NM_000284.4(PDHA1):c.523G>A (p.Ala175Thr) rs1569191372
NM_000284.4(PDHA1):c.821G>C (p.Arg274Thr) rs2063192867
NM_000284.4(PDHA1):c.899+2T>A rs2063213491
NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys) rs137853252
NM_000289.6(PFKM):c.-8-2A>G
NM_000289.6(PFKM):c.115C>T (p.Arg39Ter) rs1064795749
NM_000289.6(PFKM):c.116G>A (p.Arg39Gln)
NM_000289.6(PFKM):c.116G>C (p.Arg39Pro) rs121918193
NM_000289.6(PFKM):c.1280_1290del (p.Leu427fs)
NM_000289.6(PFKM):c.1282dup (p.Ile428fs)
NM_000289.6(PFKM):c.1341+1G>A
NM_000289.6(PFKM):c.1500+2T>A
NM_000289.6(PFKM):c.159+1G>T rs1305706304
NM_000289.6(PFKM):c.160-1G>C
NM_000289.6(PFKM):c.1607del (p.Gly535_Ser536insTer) rs866260025
NM_000289.6(PFKM):c.1620_1625delinsGGGGG (p.Ala542fs)
NM_000289.6(PFKM):c.1711G>A (p.Glu571Lys)
NM_000289.6(PFKM):c.1717_1718del (p.Met573fs)
NM_000289.6(PFKM):c.1807C>T (p.Arg603Ter)
NM_000289.6(PFKM):c.1876_1880+2del
NM_000289.6(PFKM):c.1905T>A (p.Tyr635Ter)
NM_000289.6(PFKM):c.2003del (p.Pro668fs) rs767095759
NM_000289.6(PFKM):c.2080_2081del (p.Ser694fs) rs1233958453
NM_000289.6(PFKM):c.2175del (p.Glu725fs)
NM_000289.6(PFKM):c.238-3A>G
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter) rs121918195
NM_000289.6(PFKM):c.395G>A (p.Trp132Ter)
NM_000289.6(PFKM):c.491_500del (p.Ser164fs)
NM_000289.6(PFKM):c.539C>G (p.Ser180Cys)
NM_000289.6(PFKM):c.702dup (p.Pro235fs)
NM_000289.6(PFKM):c.736C>T (p.Arg246Ter) rs866904446
NM_000289.6(PFKM):c.779_783delinsC (p.Ile260fs)
NM_000289.6(PFKM):c.811G>T (p.Gly271Ter)
NM_000289.6(PFKM):c.86-1G>C
NM_000289.6(PFKM):c.877dup (p.Val293fs)
NM_000289.6(PFKM):c.936+2T>G
NM_000290.4(PGAM2):c.368C>T (p.Pro123Leu)
NM_000291.4(PGK1):c.806T>G (p.Leu269Arg)
NM_000292.3(PHKA2):c.1757T>G (p.Ile586Ser)
NM_000292.3(PHKA2):c.2894G>A (p.Gly965Asp)
NM_000292.3(PHKA2):c.3287A>G (p.His1096Arg)
NM_000292.3(PHKA2):c.3529C>T (p.Gln1177Ter) rs2047487518
NM_000292.3(PHKA2):c.394C>T (p.His132Tyr) rs137852292
NM_000294.3(PHKG2):c.212G>A (p.Arg71Gln)
NM_000294.3(PHKG2):c.646C>A (p.Leu216Ile) rs2053424230
NM_000294.3(PHKG2):c.927+13G>A rs371298131
NM_000343.4(SLC5A1):c.1281G>T (p.Arg427Ser)
NM_000343.4(SLC5A1):c.765C>G (p.Cys255Trp) rs888909415
NM_000352.6(ABCC8):c.1630+5G>T rs1956364777
NM_000404.4(GLB1):c.1313G>A (p.Gly438Glu) rs72555367
NM_000411.8(HLCS):c.1681dup
NM_000458.4(HNF1B):c.395A>G (p.His132Arg)
NM_000458.4(HNF1B):c.515del (p.Tyr172fs)
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys) rs566453434
NM_000512.5(GALNS):c.1345G>A (p.Gly449Arg) rs1910352262
NM_000512.5(GALNS):c.1365-1G>C rs1909832718
NM_000528.4(MAN2B1):c.1027-2A>C
NM_000528.4(MAN2B1):c.1048dup (p.His350fs) rs2145262260
NM_000528.4(MAN2B1):c.105_106del (p.Cys36fs) rs2024251717
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter) rs786204715
NM_000528.4(MAN2B1):c.1110dup
NM_000528.4(MAN2B1):c.1156del (p.Gln386fs)
NM_000528.4(MAN2B1):c.1197dup (p.Arg400fs) rs753695099
NM_000528.4(MAN2B1):c.119dup (p.Leu40fs)
NM_000528.4(MAN2B1):c.1223_1224delinsAA (p.Phe408Ter)
NM_000528.4(MAN2B1):c.1228C>T (p.Gln410Ter) rs2024019978
NM_000528.4(MAN2B1):c.1240C>T (p.Gln414Ter)
NM_000528.4(MAN2B1):c.1280_1296del (p.Pro427fs) rs1057517408
NM_000528.4(MAN2B1):c.1309+1G>T rs1057516745
NM_000528.4(MAN2B1):c.1310-2A>G
NM_000528.4(MAN2B1):c.1383C>A (p.Tyr461Ter) rs775200333
NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter) rs775200333
NM_000528.4(MAN2B1):c.1388_1389del (p.Arg463fs) rs771647137
NM_000528.4(MAN2B1):c.1404dup (p.Trp469fs) rs1599350640
NM_000528.4(MAN2B1):c.1420-27_1420-3del
NM_000528.4(MAN2B1):c.1516_1519del (p.Thr506fs) rs1599349822
NM_000528.4(MAN2B1):c.1527+1G>A
NM_000528.4(MAN2B1):c.1527+2T>G rs2145254041
NM_000528.4(MAN2B1):c.1528-1G>T rs561991886
NM_000528.4(MAN2B1):c.164G>T (p.Cys55Phe) rs864621975
NM_000528.4(MAN2B1):c.1859_1860del (p.Thr620fs)
NM_000528.4(MAN2B1):c.1928G>A (p.Trp643Ter) rs1599344532
NM_000528.4(MAN2B1):c.1929-2A>T
NM_000528.4(MAN2B1):c.1963del (p.Gln655fs)
NM_000528.4(MAN2B1):c.1996_1999del (p.Gln666fs)
NM_000528.4(MAN2B1):c.2046+1G>A rs1555707087
NM_000528.4(MAN2B1):c.2126_2127del (p.His709fs)
NM_000528.4(MAN2B1):c.2222del (p.Gly741fs)
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000528.4(MAN2B1):c.2396del (p.Gln799fs)
NM_000528.4(MAN2B1):c.241del (p.Val81fs)
NM_000528.4(MAN2B1):c.2436+5G>A
NM_000528.4(MAN2B1):c.2467C>T (p.Arg823Cys) rs746805353
NM_000528.4(MAN2B1):c.247C>T (p.Gln83Ter) rs2024217737
NM_000528.4(MAN2B1):c.2544_2568dup (p.Arg857fs)
NM_000528.4(MAN2B1):c.2596del (p.Ala866fs)
NM_000528.4(MAN2B1):c.262+2T>C
NM_000528.4(MAN2B1):c.2669C>G (p.Ser890Ter) rs1406466561
NM_000528.4(MAN2B1):c.2696C>A (p.Ser899Ter) rs767323371
NM_000528.4(MAN2B1):c.2752G>T (p.Glu918Ter) rs2023718817
NM_000528.4(MAN2B1):c.2758C>T (p.Gln920Ter)
NM_000528.4(MAN2B1):c.2778_2781dup (p.Gly928fs)
NM_000528.4(MAN2B1):c.2802dup (p.Val935fs) rs1057516864
NM_000528.4(MAN2B1):c.2917_2923+1dup
NM_000528.4(MAN2B1):c.293dup (p.Tyr99fs) rs1735642901
NM_000528.4(MAN2B1):c.2999T>C (p.Phe1000Ser) rs864621991
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter) rs370803545
NM_000528.4(MAN2B1):c.426del (p.Val143fs) rs2024205685
NM_000528.4(MAN2B1):c.437-1G>A
NM_000528.4(MAN2B1):c.437-1dup rs1160557969
NM_000528.4(MAN2B1):c.561del (p.Arg188fs) rs770297337
NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg) rs864621977
NM_000528.4(MAN2B1):c.593dup (p.Gly199fs)
NM_000528.4(MAN2B1):c.664_667del (p.Asp222fs)
NM_000528.4(MAN2B1):c.763+2_763+8del rs1057517108
NM_000528.4(MAN2B1):c.969del (p.Asn324fs)
NM_000545.8(HNF1A):c.58G>A (p.Gly20Arg) rs1249563793
NM_000642.3(AGL):c.100del (p.Arg34fs)
NM_000642.3(AGL):c.1041dup (p.Val348fs) rs2101126325
NM_000642.3(AGL):c.104T>G (p.Leu35Ter) rs1057516567
NM_000642.3(AGL):c.1076_1078dup (p.Pro359_His360insPro) rs750705888
NM_000642.3(AGL):c.1148C>G (p.Ser383Ter)
NM_000642.3(AGL):c.1243A>T (p.Lys415Ter) rs2101128697
NM_000642.3(AGL):c.1283+2T>C
NM_000642.3(AGL):c.1284-1G>A
NM_000642.3(AGL):c.1284-2A>G rs1651536973
NM_000642.3(AGL):c.1298_1299del (p.Pro433fs)
NM_000642.3(AGL):c.1319C>A (p.Ser440Tyr) rs149771710
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer) rs786204678
NM_000642.3(AGL):c.1423+1G>A
NM_000642.3(AGL):c.1437C>A (p.Tyr479Ter) rs140095668
NM_000642.3(AGL):c.1447G>T (p.Glu483Ter)
NM_000642.3(AGL):c.1517G>A (p.Trp506Ter)
NM_000642.3(AGL):c.1589C>G (p.Ser530Ter) rs1553185905
NM_000642.3(AGL):c.1612-1G>A rs1327892944
NM_000642.3(AGL):c.1637T>A (p.Leu546Ter)
NM_000642.3(AGL):c.1680_1683dup (p.Asp562Ter)
NM_000642.3(AGL):c.1688delinsGA (p.Leu563fs) rs1651876879
NM_000642.3(AGL):c.1735+5G>A
NM_000642.3(AGL):c.1788T>G (p.Tyr596Ter) rs777871903
NM_000642.3(AGL):c.18_19del (p.Gln6fs) rs113994127
NM_000642.3(AGL):c.193_194del (p.Leu65fs)
NM_000642.3(AGL):c.1942dup (p.Ser648fs) rs2100758555
NM_000642.3(AGL):c.1998del (p.Gln667fs)
NM_000642.3(AGL):c.2034del (p.Lys679fs)
NM_000642.3(AGL):c.2036del (p.Lys679fs) rs2100759432
NM_000642.3(AGL):c.214_215del (p.Glu72fs) rs754978531
NM_000642.3(AGL):c.2155C>T (p.Gln719Ter) rs1652018859
NM_000642.3(AGL):c.2207C>A (p.Ser736Ter)
NM_000642.3(AGL):c.223_224del (p.Glu74_Asp75insTer) rs767346840
NM_000642.3(AGL):c.2349_2352del (p.Arg784fs)
NM_000642.3(AGL):c.2351_2352del (p.Arg784fs)
NM_000642.3(AGL):c.2457_2460del (p.Gln820fs) rs1553187237
NM_000642.3(AGL):c.251dup (p.Asn84fs) rs756175624
NM_000642.3(AGL):c.2538dup (p.Ile847fs) rs1057516984
NM_000642.3(AGL):c.2546+1G>T
NM_000642.3(AGL):c.2670del (p.Pro891fs) rs764591009
NM_000642.3(AGL):c.2681+1G>T rs201201443
NM_000642.3(AGL):c.2690_2691dup (p.Arg898fs)
NM_000642.3(AGL):c.2799T>G (p.Tyr933Ter) rs767529587
NM_000642.3(AGL):c.2812+1G>C
NM_000642.3(AGL):c.2869del (p.Cys957fs)
NM_000642.3(AGL):c.2905dup (p.Tyr969fs) rs1652879873
NM_000642.3(AGL):c.2911A>G (p.Ser971Gly) rs1211367569
NM_000642.3(AGL):c.293+1G>T
NM_000642.3(AGL):c.293+1del rs777857395
NM_000642.3(AGL):c.2930G>T (p.Arg977Leu) rs147977213
NM_000642.3(AGL):c.294-1G>C rs757967016
NM_000642.3(AGL):c.294-2A>T rs1057516868
NM_000642.3(AGL):c.2950-1G>A rs1057516793
NM_000642.3(AGL):c.296del (p.Asn99fs)
NM_000642.3(AGL):c.2989C>T (p.Gln997Ter)
NM_000642.3(AGL):c.3011del (p.Pro1004fs) rs1057516306
NM_000642.3(AGL):c.3083+1G>T
NM_000642.3(AGL):c.3084-1G>A
NM_000642.3(AGL):c.3091C>T (p.Gln1031Ter)
NM_000642.3(AGL):c.3204_3205dup (p.Arg1069fs)
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs) rs771069887
NM_000642.3(AGL):c.3238del (p.Cys1080fs)
NM_000642.3(AGL):c.3259+1G>C
NM_000642.3(AGL):c.3287dup (p.Arg1097fs)
NM_000642.3(AGL):c.3362+1G>A rs1553189468
NM_000642.3(AGL):c.3362+2T>C rs2100804114
NM_000642.3(AGL):c.3362G>A (p.Arg1121Lys) rs1653326843
NM_000642.3(AGL):c.3481_3589-405del
NM_000642.3(AGL):c.3588_3588+14del
NM_000642.3(AGL):c.3589-3C>G rs1653935585
NM_000642.3(AGL):c.3630del (p.Lys1210fs) rs1653938652
NM_000642.3(AGL):c.3639G>C (p.Gln1213His) rs1213904866
NM_000642.3(AGL):c.3662del (p.Asn1221fs)
NM_000642.3(AGL):c.3665del (p.Ala1222fs)
NM_000642.3(AGL):c.3677T>G (p.Ile1226Arg) rs749118487
NM_000642.3(AGL):c.36_37insCG (p.Asn13fs) rs762545015
NM_000642.3(AGL):c.3701-2A>G
NM_000642.3(AGL):c.3733del (p.Thr1245fs)
NM_000642.3(AGL):c.3745del (p.Tyr1249fs)
NM_000642.3(AGL):c.378T>A (p.Cys126Ter) rs1553183359
NM_000642.3(AGL):c.3882dup (p.Arg1295fs)
NM_000642.3(AGL):c.3911dup (p.Asn1304fs) rs745757264
NM_000642.3(AGL):c.3949+1G>C
NM_000642.3(AGL):c.3972T>G (p.Tyr1324Ter)
NM_000642.3(AGL):c.4100del (p.Gly1367fs) rs777120567
NM_000642.3(AGL):c.4115G>A (p.Trp1372Ter) rs1183383313
NM_000642.3(AGL):c.4162-1G>A rs1490339052
NM_000642.3(AGL):c.4162-5_4162-1delinsCTAGTGAAT
NM_000642.3(AGL):c.4193G>A (p.Trp1398Ter) rs1344484845
NM_000642.3(AGL):c.4221del (p.Lys1407fs) rs786204655
NM_000642.3(AGL):c.4221dup (p.Leu1408fs) rs786204655
NM_000642.3(AGL):c.4255_4259+150del
NM_000642.3(AGL):c.4256dup (p.Asp1420fs)
NM_000642.3(AGL):c.4259+5G>A rs780504025
NM_000642.3(AGL):c.4422del (p.Ala1475fs) rs1286364615
NM_000642.3(AGL):c.4456del (p.Ser1486fs) rs113994134
NM_000642.3(AGL):c.4481+2T>G rs1553193530
NM_000642.3(AGL):c.4490G>A (p.Trp1497Ter)
NM_000642.3(AGL):c.471del (p.Met157fs)
NM_000642.3(AGL):c.506_507insA (p.Ser169_Arg170insTer)
NM_000642.3(AGL):c.535_538del (p.Leu179fs) rs794727706
NM_000642.3(AGL):c.538G>T (p.Glu180Ter)
NM_000642.3(AGL):c.557C>G (p.Ser186Ter)
NM_000642.3(AGL):c.604del (p.Glu202fs)
NM_000642.3(AGL):c.619del (p.Glu207fs)
NM_000642.3(AGL):c.665-2A>G
NM_000642.3(AGL):c.672dup (p.Ser225Ter) rs1057516471
NM_000642.3(AGL):c.743G>A (p.Trp248Ter)
NM_000642.3(AGL):c.753_756del (p.Asp251fs) rs748789700
NM_000642.3(AGL):c.809dup (p.Ile271fs)
NM_000642.3(AGL):c.83-2A>G
NM_000642.3(AGL):c.861_864del (p.Ile288fs) rs1571243699
NM_000642.3(AGL):c.947_948del (p.Leu316fs) rs1650934988
NM_000642.3(AGL):c.958+1G>C
NM_000642.3(AGL):c.967C>T (p.Arg323Ter) rs757987101
NM_000891.3(KCNJ2):c.896A>G (p.Glu299Gly) rs786205817
NM_000925.4(PDHB):c.122_123del (p.Gln41fs)
NM_000925.4(PDHB):c.211C>T (p.Arg71Ter)
NM_000925.4(PDHB):c.352C>T (p.Gln118Ter)
NM_000925.4(PDHB):c.469C>T (p.Gln157Ter)
NM_000925.4(PDHB):c.607G>T (p.Glu203Ter)
NM_000925.4(PDHB):c.716_717del (p.Val239fs)
NM_000925.4(PDHB):c.934+1G>A
NM_001040616.3(LINS1):c.1826C>G (p.Ala609Gly) rs1596871384
NM_001040616.3(LINS1):c.2004G>C (p.Arg668Ser) rs2037687560
NM_001040616.3(LINS1):c.305_306delinsAA (p.Arg102Gln) rs2038477427
NM_001040616.3(LINS1):c.997G>A (p.Asp333Asn) rs2037993710
NM_001040716.2(PC):c.1351C>T (p.Arg451Cys) rs113994143
NM_001040716.2(PC):c.1357C>T (p.Arg453Ter) rs768514713
NM_001040716.2(PC):c.1368+1G>A rs755640269
NM_001040716.2(PC):c.156dup (p.Phe53fs)
NM_001040716.2(PC):c.1639C>T (p.Arg547Ter)
NM_001040716.2(PC):c.1799dup (p.Leu601fs)
NM_001040716.2(PC):c.1825+2T>G
NM_001040716.2(PC):c.1825+3A>C rs1945555370
NM_001040716.2(PC):c.1826-1G>C
NM_001040716.2(PC):c.1980del (p.Phe660fs)
NM_001040716.2(PC):c.1989_1990dup (p.Glu664fs)
NM_001040716.2(PC):c.2492T>C (p.Val831Ala)
NM_001040716.2(PC):c.2493_2494del (p.Val831_Phe832insTer) rs756355930
NM_001040716.2(PC):c.2532_2533del (p.Tyr845fs)
NM_001040716.2(PC):c.2535C>A (p.Tyr845Ter)
NM_001040716.2(PC):c.2606G>A (p.Gly869Asp) rs1555015018
NM_001040716.2(PC):c.2800C>T (p.Gln934Ter)
NM_001040716.2(PC):c.2866dup (p.His956fs)
NM_001040716.2(PC):c.295del (p.Ile99fs)
NM_001040716.2(PC):c.3089del (p.Leu1030fs)
NM_001040716.2(PC):c.3146_3147+1del
NM_001040716.2(PC):c.3284dup (p.Met1095fs)
NM_001040716.2(PC):c.3409_3410del (p.Leu1137fs) rs113994148
NM_001040716.2(PC):c.3496A>G (p.Met1166Val) rs1945302855
NM_001040716.2(PC):c.370C>T (p.Arg124Ter)
NM_001040716.2(PC):c.488-6C>A
NM_001040716.2(PC):c.52C>T (p.Arg18Ter) rs144583275
NM_001040716.2(PC):c.584C>T (p.Ala195Val) rs1436643226
NM_001040716.2(PC):c.634-1G>A
NM_001040716.2(PC):c.796T>G (p.Ser266Ala) rs113994142
NM_001064.4(TKT):c.1136G>A (p.Arg379His)
NM_001064.4(TKT):c.1604T>A (p.Phe535Tyr)
NM_001080510.5(METTL23):c.266T>A (p.Leu89Gln)
NM_001080510.5(METTL23):c.417G>T (p.Trp139Cys) rs2077335572
NM_001080510.5(METTL23):c.496G>T (p.Asp166Tyr) rs138247613
NM_001080510.5(METTL23):c.521G>T (p.Gly174Val) rs1395171597
NM_001136035.4(TRMT1):c.1019+9G>C rs375881785
NM_001136035.4(TRMT1):c.1078G>A (p.Gly360Ser) rs753225455
NM_001136035.4(TRMT1):c.1161_1162del (p.Cys387fs)
NM_001136035.4(TRMT1):c.1385T>C (p.Leu462Pro)
NM_001136035.4(TRMT1):c.583C>T (p.Arg195Trp) rs1006351159
NM_001136035.4(TRMT1):c.814A>G (p.Thr272Ala) rs759911177
NM_001160372.4(TRAPPC9):c.101T>G (p.Ile34Ser)
NM_001160372.4(TRAPPC9):c.1310C>A (p.Pro437His) rs1247214249
NM_001160372.4(TRAPPC9):c.151C>T (p.Arg51Ter) rs2071449158
NM_001160372.4(TRAPPC9):c.2795C>A (p.Ala932Asp) rs759330508
NM_001160372.4(TRAPPC9):c.3047T>C (p.Leu1016Pro) rs1829977055
NM_001164277.2(SLC37A4):c.1016G>A (p.Gly339Asp) rs121908980
NM_001164277.2(SLC37A4):c.1063G>T (p.Glu355Ter) rs121908975
NM_001164277.2(SLC37A4):c.1063_1064insTTGGG (p.Glu355fs)
NM_001164277.2(SLC37A4):c.1065del (p.Ser356fs)
NM_001164277.2(SLC37A4):c.1082del (p.Leu361fs)
NM_001164277.2(SLC37A4):c.1110_1117dup (p.Ala373fs)
NM_001164277.2(SLC37A4):c.1124+1G>A
NM_001164277.2(SLC37A4):c.1124+3_1124+6del rs782612223
NM_001164277.2(SLC37A4):c.1125-1G>A rs782202675
NM_001164277.2(SLC37A4):c.1149del (p.Phe384fs)
NM_001164277.2(SLC37A4):c.148+1G>A rs1943672400
NM_001164277.2(SLC37A4):c.148+2T>C rs1449998297
NM_001164277.2(SLC37A4):c.148G>A (p.Gly50Arg)
NM_001164277.2(SLC37A4):c.169_175del (p.Ser57fs) rs782501672
NM_001164277.2(SLC37A4):c.195dup (p.Val66fs)
NM_001164277.2(SLC37A4):c.320G>A (p.Trp107Ter)
NM_001164277.2(SLC37A4):c.343G>A (p.Gly115Arg)
NM_001164277.2(SLC37A4):c.345dup (p.Leu116fs) rs782604758
NM_001164277.2(SLC37A4):c.356_359dup (p.Cys121fs)
NM_001164277.2(SLC37A4):c.359dup (p.Cys121fs) rs1182102272
NM_001164277.2(SLC37A4):c.365G>A (p.Gly122Glu)
NM_001164277.2(SLC37A4):c.382-1G>T
NM_001164277.2(SLC37A4):c.484_485del (p.Ser162fs)
NM_001164277.2(SLC37A4):c.530_531dup (p.Val178fs)
NM_001164277.2(SLC37A4):c.572C>T (p.Pro191Leu) rs193302888
NM_001164277.2(SLC37A4):c.576dup (p.Asp193Ter)
NM_001164277.2(SLC37A4):c.59dup (p.Tyr21fs) rs1943676862
NM_001164277.2(SLC37A4):c.637del (p.Glu213fs)
NM_001164277.2(SLC37A4):c.649delinsGG (p.Leu217fs)
NM_001164277.2(SLC37A4):c.671dup (p.Tyr225fs)
NM_001164277.2(SLC37A4):c.703GTG[1] (p.Val236del) rs121908977
NM_001164277.2(SLC37A4):c.736T>C (p.Trp246Arg) rs193302878
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs) rs1447366650
NM_001164277.2(SLC37A4):c.795C>G (p.Tyr265Ter)
NM_001164277.2(SLC37A4):c.845_848del (p.Tyr282fs) rs1555190956
NM_001164277.2(SLC37A4):c.871+1G>A
NM_001164277.2(SLC37A4):c.872-7_873dup
NM_001164277.2(SLC37A4):c.882dup (p.Asn295fs)
NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His) rs193302903
NM_001164277.2(SLC37A4):c.902A>C (p.His301Pro) rs193302891
NM_001164277.2(SLC37A4):c.923_934dup (p.Met308_Met311dup) rs786204477
NM_001164277.2(SLC37A4):c.925del (p.Ala309fs) rs2134631619
NM_001164277.2(SLC37A4):c.935_936del (p.Thr312fs)
NM_001164277.2(SLC37A4):c.969_975del (p.Ser324fs)
NM_001164277.2(SLC37A4):c.976dup (p.Ser326fs) rs2134631242
NM_001164277.2(SLC37A4):c.981del (p.Lys328fs) rs1001301633
NM_001164277.2(SLC37A4):c.986-1G>C
NM_001352514.2(HLCS):c.1045G>T (p.Glu349Ter) rs148324626
NM_001352514.2(HLCS):c.1063_1064del (p.Asp355fs)
NM_001352514.2(HLCS):c.1083T>A (p.Cys361Ter)
NM_001352514.2(HLCS):c.1133del (p.Gln378fs)
NM_001352514.2(HLCS):c.1151T>C (p.Leu384Pro) rs119103227
NM_001352514.2(HLCS):c.1219_1222dup (p.Gly408fs)
NM_001352514.2(HLCS):c.1223del (p.Gly408fs) rs771944310
NM_001352514.2(HLCS):c.1223dup (p.Ala409fs)
NM_001352514.2(HLCS):c.1289del (p.Ser430fs)
NM_001352514.2(HLCS):c.1326del (p.Val443fs)
NM_001352514.2(HLCS):c.1434C>A (p.Cys478Ter) rs2066882139
NM_001352514.2(HLCS):c.1550_1551insT (p.Leu518fs)
NM_001352514.2(HLCS):c.1576C>T (p.Gln526Ter) rs1393866282
NM_001352514.2(HLCS):c.1600_1604del (p.Tyr534fs)
NM_001352514.2(HLCS):c.1631del (p.Asp544fs)
NM_001352514.2(HLCS):c.1646G>A (p.Trp549Ter) rs1342457304
NM_001352514.2(HLCS):c.1658_1659del (p.His553fs)
NM_001352514.2(HLCS):c.1699_1700del (p.Ser566_Leu567insTer) rs1555930523
NM_001352514.2(HLCS):c.1705_1733dup (p.Glu578delinsAspLeuPheHisProThrCysLeuLysTer)
NM_001352514.2(HLCS):c.1869del (p.Thr624fs) rs2065031709
NM_001352514.2(HLCS):c.1892+1G>A
NM_001352514.2(HLCS):c.1961-2A>G
NM_001352514.2(HLCS):c.1974T>A (p.Asn658Lys)
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met) rs119103231
NM_001352514.2(HLCS):c.2185G>A (p.Gly729Arg)
NM_001352514.2(HLCS):c.2237-2A>G
NM_001352514.2(HLCS):c.2341G>T (p.Asp781Tyr)
NM_001352514.2(HLCS):c.2450+2T>A
NM_001352514.2(HLCS):c.331-1G>C
NM_001352514.2(HLCS):c.476dup (p.Pro160fs)
NM_001352514.2(HLCS):c.494-1G>A
NM_001352514.2(HLCS):c.513dup (p.Thr172fs)
NM_001352514.2(HLCS):c.726dup (p.Val243fs)
NM_001352514.2(HLCS):c.727del (p.Val243fs) rs2146528200
NM_001352514.2(HLCS):c.857del (p.Leu286fs)
NM_001352514.2(HLCS):c.863del (p.Ser288fs) rs1015594025
NM_001352514.2(HLCS):c.929del (p.Asn310fs)
NM_001352514.2(HLCS):c.958del (p.Gln320fs)
NM_001358263.1(HK1):c.75+20336T>A rs769395943
NM_001360016.2(G6PD):c.1361G>C (p.Arg454Pro) rs137852324
NM_001370658.1(BTD):c.-18A>T rs143058480
NM_001370658.1(BTD):c.-24A>T
NM_001370658.1(BTD):c.1030dup (p.Ile344fs)
NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter) rs397514434
NM_001370658.1(BTD):c.111T>G (p.Tyr37Ter) rs397514339
NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs) rs672601248
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del) rs397514404
NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg) rs397514408
NM_001370658.1(BTD):c.1211G>C (p.Cys404Ser) rs397514335
NM_001370658.1(BTD):c.1247_1248del (p.Glu416fs) rs1057517225
NM_001370658.1(BTD):c.1254T>A (p.Tyr418Ter) rs397514416
NM_001370658.1(BTD):c.1264del (p.Val422fs) rs1057517362
NM_001370658.1(BTD):c.1292_1293del (p.Gly431fs) rs1553654142
NM_001370658.1(BTD):c.1372G>C (p.Ala458Pro) rs181396238
NM_001370658.1(BTD):c.1387G>T (p.Glu463Ter) rs1559600871
NM_001370658.1(BTD):c.1399del (p.Trp467fs) rs397514423
NM_001370658.1(BTD):c.1406A>G (p.Asn469Ser)
NM_001370658.1(BTD):c.1419del (p.Tyr474fs) rs1559600938
NM_001370658.1(BTD):c.1433dup (p.Leu478fs) rs397514425
NM_001370658.1(BTD):c.1448_1452del (p.Gly483fs) rs398123138
NM_001370658.1(BTD):c.1466C>G (p.Pro489Arg) rs1559601041
NM_001370658.1(BTD):c.1503del (p.Arg502fs) rs1163419871
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser) rs80338686
NM_001370658.1(BTD):c.167del (p.Leu56fs)
NM_001370658.1(BTD):c.202C>T (p.Gln68Ter) rs151071780
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys) rs397514348
NM_001370658.1(BTD):c.333del (p.Phe111fs) rs397514356
NM_001370658.1(BTD):c.346del (p.Gln116fs) rs1404904752
NM_001370658.1(BTD):c.359G>A (p.Trp120Ter) rs2125486425
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001370658.1(BTD):c.399G>A (p.Glu133=) rs397514360
NM_001370658.1(BTD):c.406C>T (p.Gln136Ter) rs397514362
NM_001370658.1(BTD):c.419G>A (p.Cys140Tyr)
NM_001370658.1(BTD):c.466A>T (p.Lys156Ter)
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu) rs750363004
NM_001370658.1(BTD):c.527del (p.Thr176fs) rs1553653680
NM_001370658.1(BTD):c.52del (p.Val18fs)
NM_001370658.1(BTD):c.545A>T (p.Asn182Ile) rs397514376
NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys) rs397507174
NM_001370658.1(BTD):c.589_591delinsAGTA (p.Phe197fs) rs1553653732
NM_001370658.1(BTD):c.594G>C (p.Glu198Asp) rs397514379
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr) rs397514380
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile) rs587783005
NM_001370658.1(BTD):c.755G>A (p.Trp252Ter) rs148031701
NM_001370658.1(BTD):c.76G>T (p.Glu26Ter) rs397514336
NM_001370658.1(BTD):c.772C>G (p.Leu258Val) rs397514388
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro) rs397514389
NM_001370658.1(BTD):c.799del (p.Ala267fs)
NM_001370658.1(BTD):c.835G>C (p.Ala279Pro) rs1157567876
NM_001370658.1(BTD):c.932_941del (p.His311fs) rs773137513
NM_001370658.1(BTD):c.946C>T (p.Gln316Ter)
NM_001370658.1(BTD):c.992del (p.Thr331fs) rs397514398
NM_001543.5(NDST1):c.2468G>C (p.Gly823Ala) rs1755738807
NM_001715.3(BLK):c.84C>A (p.Val28=) rs1585387563
NM_001807.6(CEL):c.2029G>T (p.Gly677Trp) rs984492184
NM_001931.5(DLAT):c.1016C>T (p.Thr339Ile)
NM_001931.5(DLAT):c.367G>T (p.Asp123Tyr) rs1555179247
NM_001931.5(DLAT):c.956C>T (p.Pro319Leu) rs1862832629
NM_002294.3(LAMP2):c.1217G>T (p.Gly406Val) rs2058522120
NM_002294.3(LAMP2):c.138G>A (p.Trp46Ter) rs1271031981
NM_002294.3(LAMP2):c.595C>T (p.Pro199Ser)
NM_002294.3(LAMP2):c.614_615del (p.Val205fs) rs2058605108
NM_002637.4(PHKA1):c.152T>C (p.Ile51Thr) rs2054403951
NM_002637.4(PHKA1):c.1664G>A (p.Arg555Gln)
NM_002637.4(PHKA1):c.2603_2604del (p.Ser868fs) rs2052776972
NM_002863.5(PYGL):c.1099G>A (p.Glu367Lys)
NM_002863.5(PYGL):c.528+2T>C rs1243388778
NM_002863.5(PYGL):c.749C>T (p.Pro250Leu) rs1472614445
NM_003041.4(SLC5A2):c.776G>A (p.Arg259Gln)
NM_003477.3(PDHX):c.1012dup (p.Val338fs)
NM_003477.3(PDHX):c.38T>C (p.Leu13Pro)
NM_003619.4(PRSS12):c.121C>T (p.Pro41Ser) rs761103069
NM_003619.4(PRSS12):c.2040-1G>C rs780630558
NM_003619.4(PRSS12):c.235G>C (p.Ala79Pro) rs767822958
NM_003619.4(PRSS12):c.254C>A (p.Thr85Lys) rs1724538705
NM_003805.5(CRADD):c.316A>T (p.Ile106Phe) rs199846727
NM_004563.4(PCK2):c.157C>T (p.Arg53Cys) rs201059299
NM_004563.4(PCK2):c.1907G>A (p.Arg636His) rs145739132
NM_004830.4(MED23):c.1078-6T>G
NM_004830.4(MED23):c.1181C>T (p.Pro394Leu) rs1775982467
NM_004830.4(MED23):c.1708T>G (p.Leu570Val) rs1775691162
NM_004830.4(MED23):c.2176A>G (p.Asn726Asp) rs1775354988
NM_004830.4(MED23):c.3566G>T (p.Arg1189Leu) rs146599947
NM_005271.5(GLUD1):c.839T>C (p.Ile280Thr) rs1845968579
NM_005327.7(HADH):c.130C>T (p.Gln44Ter)
NM_005327.7(HADH):c.262-2A>G
NM_005327.7(HADH):c.419+1G>A
NM_005327.7(HADH):c.419+1G>C
NM_005327.7(HADH):c.424dup (p.Thr142fs)
NM_005327.7(HADH):c.587del (p.Ser196fs) rs745727504
NM_005327.7(HADH):c.709+2T>C
NM_005536.4(IMPA1):c.719G>A (p.Gly240Asp) rs1260261553
NM_005566.4(LDHA):c.476T>A (p.Ile159Asn) rs768761936
NM_005609.4(PYGM):c.1010A>G (p.Gln337Arg)
NM_005609.4(PYGM):c.1045G>A (p.Glu349Lys)
NM_005609.4(PYGM):c.1093-2A>T
NM_005609.4(PYGM):c.1119T>A (p.Cys373Ter) rs2058377004
NM_005609.4(PYGM):c.1144C>G (p.Pro382Ala)
NM_005609.4(PYGM):c.1162_1169delinsA (p.Trp388fs) rs2058376262
NM_005609.4(PYGM):c.120_121insA (p.Val41fs)
NM_005609.4(PYGM):c.1240-2A>G rs1212333772
NM_005609.4(PYGM):c.125del (p.Lys42fs)
NM_005609.4(PYGM):c.1275dup (p.Leu426fs)
NM_005609.4(PYGM):c.1278_1288dup (p.Ser430fs) rs2058372554
NM_005609.4(PYGM):c.1362_1394del (p.Asn454_Leu464del)
NM_005609.4(PYGM):c.1403+1G>A rs1191939323
NM_005609.4(PYGM):c.1446_1447dup (p.Lys483fs)
NM_005609.4(PYGM):c.1466dup (p.Arg490fs) rs886041476
NM_005609.4(PYGM):c.1468C>T (p.Arg490Trp)
NM_005609.4(PYGM):c.1475G>A (p.Trp492Ter)
NM_005609.4(PYGM):c.1620+1G>A rs1256894448
NM_005609.4(PYGM):c.1636_1639del (p.Phe546fs)
NM_005609.4(PYGM):c.164_168del (p.Ala55fs) rs780193588
NM_005609.4(PYGM):c.1717G>T (p.Glu573Ter) rs752848974
NM_005609.4(PYGM):c.1769G>A (p.Arg590His)
NM_005609.4(PYGM):c.1828-1G>A
NM_005609.4(PYGM):c.1828-1G>T
NM_005609.4(PYGM):c.194dup (p.Arg67fs)
NM_005609.4(PYGM):c.1969+1G>A
NM_005609.4(PYGM):c.1969+1G>C
NM_005609.4(PYGM):c.1979C>A (p.Ala660Asp)
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del) rs527236147
NM_005609.4(PYGM):c.2177+1G>A rs751875471
NM_005609.4(PYGM):c.2177+1G>T
NM_005609.4(PYGM):c.217C>T (p.Gln73Ter) rs1057517361
NM_005609.4(PYGM):c.2199C>G (p.Tyr733Ter) rs140102591
NM_005609.4(PYGM):c.21_28dup (p.Lys10fs) rs770037766
NM_005609.4(PYGM):c.2259dup (p.Lys754fs) rs1565531453
NM_005609.4(PYGM):c.2262del (p.Lys754fs) rs398124210
NM_005609.4(PYGM):c.2274del (p.Phe759fs)
NM_005609.4(PYGM):c.2313-1G>A
NM_005609.4(PYGM):c.2363_2366del (p.Val788fs) rs1565531128
NM_005609.4(PYGM):c.2379+1G>A
NM_005609.4(PYGM):c.2379+2_2379+3delinsAT rs2135823216
NM_005609.4(PYGM):c.2392T>A (p.Trp798Arg) rs119103258
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg) rs119103258
NM_005609.4(PYGM):c.247A>T (p.Ile83Phe)
NM_005609.4(PYGM):c.251_261del (p.Tyr84fs) rs1057516329
NM_005609.4(PYGM):c.255C>A (p.Tyr85Ter) rs527236146
NM_005609.4(PYGM):c.260_261del (p.Ser87fs) rs757762109
NM_005609.4(PYGM):c.403G>A (p.Gly135Arg) rs780246932
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp) rs367990192
NM_005609.4(PYGM):c.425-2A>G rs752851284
NM_005609.4(PYGM):c.472dup (p.Tyr158fs)
NM_005609.4(PYGM):c.501dup (p.Asn168Ter) rs1555136390
NM_005609.4(PYGM):c.505C>T (p.Gln169Ter)
NM_005609.4(PYGM):c.506AGA[1] (p.Lys170del) rs764823441
NM_005609.4(PYGM):c.528+2T>G rs1057516468
NM_005609.4(PYGM):c.580del (p.Arg194fs)
NM_005609.4(PYGM):c.632del (p.Ser211fs) rs759015176
NM_005609.4(PYGM):c.658_659del (p.Gln220fs) rs766199191
NM_005609.4(PYGM):c.677_681dup (p.Asp228fs)
NM_005609.4(PYGM):c.682del (p.Asp228fs) rs2058388882
NM_005609.4(PYGM):c.735G>A (p.Trp245Ter)
NM_005609.4(PYGM):c.772+2T>A
NM_005609.4(PYGM):c.772+2_772+3del
NM_005609.4(PYGM):c.839_843del (p.Leu280fs)
NM_005609.4(PYGM):c.889G>T (p.Glu297Ter)
NM_005609.4(PYGM):c.999+1G>A
NM_005883.3(APC2):c.4616G>C (p.Arg1539Pro) rs367655515
NM_005883.3(APC2):c.5772G>C (p.Gln1924His) rs2084082995
NM_005883.3(APC2):c.583C>T (p.Arg195Cys) rs1158412843
NM_005883.3(APC2):c.6111C>T (p.Phe2037=) rs1405418055
NM_005883.3(APC2):c.757C>T (p.Pro253Ser) rs555858661
NM_005883.3(APC2):c.796C>A (p.Pro266Thr) rs146579468
NM_005908.4(MANBA):c.177+2T>C rs779221957
NM_006279.5(ST3GAL3):c.118+39G>T rs766784665
NM_006516.4(SLC2A1):c.1126G>A (p.Val376Met) rs796053260
NM_006516.4(SLC2A1):c.1147C>T (p.Pro383Ser) rs1643442833
NM_006516.4(SLC2A1):c.1348T>A (p.Phe450Ile) rs1216296247
NM_006516.4(SLC2A1):c.141A>T (p.Thr47=) rs150863093
NM_006516.4(SLC2A1):c.19-2A>G rs796053272
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys) rs80359818
NM_006516.4(SLC2A1):c.679+3A>G
NM_006516.4(SLC2A1):c.724C>T (p.Gln242Ter) rs794729221
NM_006516.4(SLC2A1):c.806G>A (p.Arg269His) rs1411827478
NM_006516.4(SLC2A1):c.988C>T (p.Arg330Ter)
NM_006618.5(KDM5B):c.1313T>C (p.Phe438Ser) rs1656013992
NM_006618.5(KDM5B):c.2807A>T (p.Asp936Val) rs1655336497
NM_006721.4(ADK):c.741T>A (p.Phe247Leu) rs786205458
NM_006755.2(TALDO1):c.330-10_330delinsAGA rs796249314
NM_006755.2(TALDO1):c.793del (p.Gln265fs) rs727502867
NM_006755.2(TALDO1):c.888G>A (p.Trp296Ter) rs1863010811
NM_006765.4(TUSC3):c.44G>A (p.Arg15Gln)
NM_006859.4(LIAS):c.152G>A (p.Gly51Asp) rs1191295540
NM_006859.4(LIAS):c.76A>G (p.Arg26Gly) rs773069554
NM_006895.3(HNMT):c.317C>T (p.Ser106Leu) rs755441595
NM_012203.2(GRHPR):c.101G>A (p.Trp34Ter)
NM_012203.2(GRHPR):c.102_112del (p.Trp34_Glu38delinsTer)
NM_012203.2(GRHPR):c.103del (p.Asp35fs) rs80356708
NM_012203.2(GRHPR):c.175del (p.Leu59fs)
NM_012203.2(GRHPR):c.228dup (p.Val77fs) rs1057517238
NM_012203.2(GRHPR):c.251del (p.Gly84fs)
NM_012203.2(GRHPR):c.271del (p.Asp91fs)
NM_012203.2(GRHPR):c.337G>T (p.Glu113Ter) rs180177307
NM_012203.2(GRHPR):c.404+3_404+6del rs180177309
NM_012203.2(GRHPR):c.441_442del (p.Cys147fs) rs1057517026
NM_012203.2(GRHPR):c.493+2T>A rs180177313
NM_012203.2(GRHPR):c.589del (p.Ala197fs) rs1564300408
NM_012203.2(GRHPR):c.599-1G>A
NM_012203.2(GRHPR):c.599-1G>C rs1422977131
NM_012203.2(GRHPR):c.617_671del (p.Ala206fs) rs1564300888
NM_012203.2(GRHPR):c.626C>T (p.Ser209Phe)
NM_012203.2(GRHPR):c.675_676del (p.Cys226fs)
NM_012203.2(GRHPR):c.737dup
NM_012203.2(GRHPR):c.779dup (p.Ser260fs)
NM_012203.2(GRHPR):c.83+1G>A
NM_012203.2(GRHPR):c.83+1G>C rs1822898131
NM_012203.2(GRHPR):c.863del (p.Cys288fs) rs1554748598
NM_012203.2(GRHPR):c.865+1del
NM_012203.2(GRHPR):c.865+2T>C
NM_012203.2(GRHPR):c.866_867del (p.Val289fs) rs180177321
NM_012203.2(GRHPR):c.867_870dup (p.Leu291fs) rs1554749639
NM_012203.2(GRHPR):c.934A>G (p.Asn312Asp) rs180177324
NM_012203.2(GRHPR):c.94_97dup (p.Gln33fs)
NM_012434.5(SLC17A5):c.1001C>G (p.Pro334Arg) rs119491110
NM_012434.5(SLC17A5):c.1111+1G>T rs777862172
NM_012434.5(SLC17A5):c.1260-2A>C
NM_012434.5(SLC17A5):c.1341del (p.Thr448fs)
NM_012434.5(SLC17A5):c.221T>G (p.Leu74Ter)
NM_012434.5(SLC17A5):c.254del (p.Glu85fs)
NM_012434.5(SLC17A5):c.286C>T (p.Gln96Ter)
NM_012434.5(SLC17A5):c.289dup (p.Thr97fs)
NM_012434.5(SLC17A5):c.294_310del
NM_012434.5(SLC17A5):c.308G>A (p.Trp103Ter)
NM_012434.5(SLC17A5):c.409del (p.Met137fs) rs794729653
NM_012434.5(SLC17A5):c.43G>T (p.Glu15Ter) rs727504157
NM_012434.5(SLC17A5):c.609dup (p.Ala204fs)
NM_012434.5(SLC17A5):c.619C>T (p.Gln207Ter) rs1769021763
NM_012434.5(SLC17A5):c.693del (p.Phe233fs) rs1057516862
NM_012434.5(SLC17A5):c.699del (p.Phe233fs) rs779548058
NM_012434.5(SLC17A5):c.700+2T>C rs1440688652
NM_012434.5(SLC17A5):c.701-1G>A
NM_012434.5(SLC17A5):c.735dup (p.Trp246fs)
NM_012434.5(SLC17A5):c.738G>A (p.Trp246Ter) rs755923873
NM_012434.5(SLC17A5):c.790G>T (p.Glu264Ter)
NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del) rs386833994
NM_012434.5(SLC17A5):c.819+1G>A rs1057517028
NM_012434.5(SLC17A5):c.846_849del (p.Trp282fs)
NM_012434.5(SLC17A5):c.905del (p.Asn302fs) rs771156053
NM_012434.5(SLC17A5):c.94+2T>A rs1769984400
NM_012434.5(SLC17A5):c.95-1G>A
NM_012434.5(SLC17A5):c.979-1G>T
NM_012434.5(SLC17A5):c.998del (p.Leu333fs) rs779494716
NM_014026.6(DCPS):c.791G>T (p.Arg264Leu) rs140377449
NM_014415.4(ZBTB11):c.799C>T (p.Leu267Phe) rs1436155983
NM_014806.5(RUSC2):c.380C>T (p.Thr127Ile) rs762004622
NM_014806.5(RUSC2):c.3877C>T (p.Arg1293Cys) rs1563876680
NM_014806.5(RUSC2):c.567C>A (p.His189Gln) rs1030373633
NM_014806.5(RUSC2):c.61C>T (p.His21Tyr) rs1821748484
NM_015028.4(TNIK):c.2724G>T (p.Thr908=) rs377530882
NM_015028.4(TNIK):c.2729G>A (p.Gly910Glu) rs35090763
NM_015275.3(WASHC4):c.971T>C (p.Leu324Ser) rs1881275367
NM_016219.5(MAN1B1):c.1028A>G (p.Tyr343Cys) rs1038179177
NM_016219.5(MAN1B1):c.1444C>T (p.Gln482Ter) rs1831100789
NM_016219.5(MAN1B1):c.1445+2_1445+5del rs1831100970
NM_016219.5(MAN1B1):c.1680C>G (p.Asn560Lys) rs1017935955
NM_016219.5(MAN1B1):c.1808G>A (p.Ser603Asn) rs929390325
NM_016219.5(MAN1B1):c.994A>G (p.Thr332Ala) rs546612497
NM_016302.4(CRBN):c.1171T>C (p.Cys391Arg) rs797045036
NM_016302.4(CRBN):c.29C>G (p.Ala10Gly) rs137880766
NM_016302.4(CRBN):c.40A>T (p.Met14Leu) rs753095651
NM_016302.4(CRBN):c.641C>G (p.Ser214Ter) rs1575094649
NM_016302.4(CRBN):c.94G>A (p.Glu32Lys)
NM_017721.5(CC2D1A):c.1437C>T (p.Ala479=) rs1971378002
NM_017721.5(CC2D1A):c.1666G>A (p.Asp556Asn) rs1971475798
NM_017721.5(CC2D1A):c.748+1G>T rs876657679
NM_017721.5(CC2D1A):c.992C>T (p.Thr331Ile) rs781498477
NM_017755.6(NSUN2):c.1165C>T (p.Arg389Ter) rs1377452635
NM_017755.6(NSUN2):c.1594C>G (p.Pro532Ala) rs1736795903
NM_017755.6(NSUN2):c.1639A>G (p.Asn547Asp)
NM_017755.6(NSUN2):c.1725_1728del (p.Ser575fs) rs762288077
NM_017755.6(NSUN2):c.2032T>G (p.Cys678Gly) rs747908747
NM_017755.6(NSUN2):c.2045G>A (p.Gly682Glu) rs1736492714
NM_017755.6(NSUN2):c.604A>G (p.Met202Val) rs1737468532
NM_017755.6(NSUN2):c.767G>A (p.Arg256Lys) rs1456146368
NM_018255.4(ELP2):c.1239A>C (p.Arg413Ser) rs2090517565
NM_018255.4(ELP2):c.293dup (p.Leu98fs) rs529659464
NM_018297.4(NGLY1):c.1764_1785del (p.Asp588fs) rs2125442722
NM_020066.5(FMN2):c.1244C>T (p.Thr415Ile) rs200347646
NM_020066.5(FMN2):c.1550del (p.Pro517fs) rs1390970926
NM_020066.5(FMN2):c.1618C>T (p.Arg540Ter) rs1247510585
NM_020066.5(FMN2):c.3131C>T (p.Pro1044Leu) rs202165125
NM_020066.5(FMN2):c.884C>T (p.Ser295Phe)
NM_021956.5(GRIK2):c.1095+2T>A
NM_021956.5(GRIK2):c.2625A>T (p.Leu875Phe) rs1356066581
NM_021956.5(GRIK2):c.969G>A (p.Met323Ile) rs1780549634
NM_024036.5(LRFN4):c.1882G>T (p.Glu628Ter) rs1230803568
NM_024298.5(MBOAT7):c.1031+17A>G rs1034934225
NM_024298.5(MBOAT7):c.1031G>A (p.Arg344Gln) rs761899500
NM_024298.5(MBOAT7):c.1196A>C (p.His399Pro) rs2076008543
NM_024298.5(MBOAT7):c.653G>C (p.Arg218Pro) rs185682596
NM_024298.5(MBOAT7):c.847C>G (p.Pro283Ala) rs1055465093
NM_024298.5(MBOAT7):c.849C>G (p.Pro283=) rs767593470
NM_024298.5(MBOAT7):c.937G>T (p.Val313Leu) rs2076188195
NM_024735.5(FBXO31):c.1348G>A (p.Val450Met) rs145589459
NM_024735.5(FBXO31):c.44G>A (p.Gly15Glu) rs1235563636
NM_024735.5(FBXO31):c.638C>A (p.Pro213His) rs1905261526
NM_024824.5(ZC3H14):c.1232C>T (p.Pro411Leu) rs201527519
NM_024989.4(PGAP1):c.1069T>C (p.Trp357Arg) rs747024084
NM_024989.4(PGAP1):c.1882A>G (p.Thr628Ala) rs1334582239
NM_024989.4(PGAP1):c.2128T>C (p.Ser710Pro) rs1700574769
NM_030805.4(LMAN2L):c.424+11C>T rs2078470068
NM_030805.4(LMAN2L):c.46C>A (p.Arg16=) rs1028008100
NM_030805.4(LMAN2L):c.776A>T (p.Asp259Val) rs2077918865
NM_031229.4(RBCK1):c.41G>A (p.Ser14Asn) rs1471676178
NM_032808.7(LINGO1):c.1406A>G (p.Lys469Arg) rs868551107
NM_138775.3(ALKBH8):c.982C>T (p.Arg328Ter)
NM_145262.4(GLYCTK):c.550C>T (p.Pro184Ser) rs1379123977
NM_152419.3(HGSNAT):c.1457G>T (p.Gly486Val) rs1804622640
NM_152419.3(HGSNAT):c.1856G>C (p.Trp619Ser) rs1563388121
NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp) rs587777732
NM_198586.3(NHLRC1):c.368G>A (p.Trp123Ter) rs1783750860
NM_198586.3(NHLRC1):c.647_649del (p.Ser216del)
NM_198586.3(NHLRC1):c.716T>C (p.Leu239Pro)

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