ClinVar Miner

List of variants studied for inborn disorder of amino acid and other organic acid metabolism by Illumina Laboratory Services, Illumina

Included ClinVar conditions (322):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7169
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HGVS dbSNP gnomAD frequency
NM_001033044.4(GLUL):c.*2118T>C rs10458354 0.99979
NM_015702.3(MMADHC):c.*89T>C rs6742604 0.99742
NM_005589.4(ALDH6A1):c.*142C>T rs8017248 0.98056
NM_000126.4(ETFA):c.*216A>T rs1803550 0.97654
NM_000161.3(GCH1):c.-121T>C rs1753589 0.96017
NM_183050.4(BCKDHB):c.*395G>T rs4706116 0.95752
NM_002300.8(LDHB):c.713+15A>G rs1650289 0.94113
NM_153006.3(NAGS):c.1451+9T>C rs228773 0.93334
NM_000207.3(INS):c.187+11T>C rs5506 0.93263
NM_020686.6(ABAT):c.*1933T>C rs4985036 0.92763
NM_000191.3(HMGCL):c.654A>G (p.Leu218=) rs719400 0.92712
NM_003664.5(AP3B1):c.1754T>A (p.Val585Glu) rs6453373 0.91917
NM_000191.3(HMGCL):c.*486G>A rs11714 0.91585
NM_020166.5(MCCC1):c.396C>T (p.Leu132=) rs7622479 0.89165
NM_002203.4(ITGA2):c.*721A>C rs1109527 0.88662
NM_022081.6(HPS4):c.*1613C>A rs3752589 0.88461
NM_022081.6(HPS4):c.-296T>C rs5761557 0.88308
NM_153006.3(NAGS):c.*211C>T rs640631 0.86592
NM_022081.6(HPS4):c.1816C>T (p.His606Tyr) rs1894706 0.86290
NM_020686.6(ABAT):c.448-15T>A rs2302608 0.86261
NM_022081.6(HPS4):c.1875G>T (p.Gln625His) rs1894704 0.86250
NM_002108.4(HAL):c.1315G>A (p.Val439Ile) rs7297245 0.85575
NM_001033044.4(GLUL):c.-43G>C rs912901 0.84379
NM_002065.6(GLUL):c.-486T>C rs912902 0.83866
NM_002108.4(HAL):c.1353+13A>G rs6538694 0.82983
NM_006721.4(ADK):c.*648C>T rs1189553 0.82915
NM_000274.3(OAT):c.-94T>G rs4144117 0.82728
NM_003597.5(KLF11):c.*1558T>C rs4669522 0.82295
NM_001715.3(BLK):c.-46A>G rs2250788 0.82234
NM_000274.4(OAT):c.648+14A>G rs9422807 0.81973
NM_022081.6(HPS4):c.686A>G (p.Glu229Gly) rs713998 0.81679
NM_022081.6(HPS4):c.1654G>A (p.Val552Met) rs5752330 0.81665
NM_001715.3(BLK):c.843T>C (p.Phe281=) rs2306234 0.81190
NM_022081.6(HPS4):c.-253C>T rs3747134 0.81120
NM_003477.3(PDHX):c.*644C>A rs7808 0.80809
NM_000458.4(HNF1B):c.*100= rs1555818000 0.80645
NM_022081.5(HPS4):c.-662G>T rs968425 0.80578
NM_001701.4(BAAT):c.*948C>A rs7043029 0.80525
NM_058179.4(PSAT1):c.-12G>C rs2277148 0.80020
NM_001918.5(DBT):c.*6902T>A rs200943386 0.79813
NM_003477.3(PDHX):c.63C>T (p.Pro21=) rs2956109 0.78720
NM_015702.3(MMADHC):c.453G>A (p.Gln151=) rs11545261 0.78682
NM_001701.4(BAAT):c.*46G>A rs2229594 0.78680
NM_003477.2(PDHX):c.-302A>G rs2956112 0.78475
NM_001918.5(DBT):c.*5546G>A rs11166412 0.78278
NM_183050.4(BCKDHB):c.*627T>C rs4706838 0.78227
NM_183050.4(BCKDHB):c.*2271G>A rs15062 0.78187
NM_183050.4(BCKDHB):c.*994G>A rs4502885 0.78179
NM_183050.4(BCKDHB):c.*1875G>A rs7759304 0.78177
NM_183050.4(BCKDHB):c.*2282C>T rs10864 0.78176
NM_183050.4(BCKDHB):c.*1892T>C rs7740958 0.78169
NM_183050.4(BCKDHB):c.*1778A>G rs7758761 0.78168
NM_183050.4(BCKDHB):c.*304G>A rs926731 0.78168
NM_183050.4(BCKDHB):c.*1241A>G rs1042368 0.78159
NM_183050.4(BCKDHB):c.*293T>C rs926732 0.78149
NM_183050.4(BCKDHB):c.*1810T>C rs7740932 0.78143
NM_183050.4(BCKDHB):c.*789C>T rs4706118 0.78112
NM_183050.4(BCKDHB):c.*805T>C rs4706839 0.78101
NM_183050.4(BCKDHB):c.*121G>A rs926733 0.77743
NM_183050.4(BCKDHB):c.*1444T>C rs3805848 0.77735
NM_000429.3(MAT1A):c.426T>C (p.Ala142=) rs1143694 0.76766
NM_183050.4(BCKDHB):c.*1142C>G rs1042367 0.75871
NM_000187.4(HGD):c.240A>T (p.Gln80His) rs2255543 0.75354
NM_014324.6(AMACR):c.829G>A (p.Glu277Lys) rs2278008 0.75062
NM_002203.4(ITGA2):c.*3026A>G rs7719848 0.75000
NM_006721.4(ADK):c.66-23911C>T rs10824095 0.74804
NM_001918.5(DBT):c.*3233C>T rs2784174 0.74803
NM_001918.5(DBT):c.*5150A>G rs6701655 0.74788
NM_001366110.1(PAX4):c.*521C>T rs712699 0.74699
NM_001366110.1(PAX4):c.986A>C (p.His329Pro) rs712701 0.74681
NM_001918.5(DBT):c.*6228A>T rs4281338 0.74605
NM_001366110.1(PAX4):c.*211A>G rs712700 0.74585
NM_002203.4(ITGA2):c.*894C>T rs1109526 0.74563
NM_003060.4(SLC22A5):c.*843T>C rs274548 0.74357
NM_003060.4(SLC22A5):c.*1340A>T rs274547 0.74351
NM_000429.3(MAT1A):c.870A>G (p.Val290=) rs10788546 0.73313
NM_000429.3(MAT1A):c.882T>C (p.Ala294=) rs10887711 0.73311
NM_003060.4(SLC22A5):c.*959_*960insC rs144261584 0.73243
NM_000925.4(PDHB):c.*296C>G rs7231 0.72833
NM_181507.2(HPS5):c.822C>A (p.Leu274=) rs1140047 0.72384
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) rs5219 0.72048
NM_003748.4(ALDH4A1):c.1050G>C (p.Ala350=) rs2230705 0.71986
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser) rs757110 0.71935
NM_000275.3(OCA2):c.1183-4A>G rs10852218 0.71746
NM_000687.3(AHCY):c.-124C>A rs819146 0.71726
NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile) rs5215 0.71351
NM_012463.4(ATP6V0A2):c.1515T>C (p.Asn505=) rs7135542 0.71178
NM_003748.4(ALDH4A1):c.1380T>C (p.Asp460=) rs2230708 0.71129
NM_004577.4(PSPH):c.*361A>G rs4947534 0.70873
NM_000170.3(GLDC):c.*540C>T rs7848919 0.70462
NM_012463.4(ATP6V0A2):c.*1693C>G rs10846553 0.70431
NM_006623.4(PHGDH):c.1326G>A (p.Thr442=) rs543703 0.69798
NM_002500.5(NEUROD1):c.-73G>A rs2583016 0.68252
NM_000170.3(GLDC):c.*473C>T rs1061407 0.67774
NM_014251.3(SLC25A13):c.328+6A>G rs6957975 0.67687
NM_004453.4(ETFDH):c.92C>T (p.Thr31Ile) rs11559290 0.67086
NM_183050.4(BCKDHB):c.*345C>T rs1811844 0.66759
NM_000709.4(BCKDHA):c.1221A>G (p.Leu407=) rs4674 0.66668
NM_000170.3(GLDC):c.*7G>C rs2228098 0.66615
NM_000108.5(DLD):c.*487C>T rs4518 0.66588
NM_000709.4(BCKDHA):c.972C>T (p.Phe324=) rs284652 0.66509
NM_012463.4(ATP6V0A2):c.426T>C (p.Asn142=) rs1139789 0.66312
NM_000108.5(DLD):c.*978T>C rs2158835 0.66205
NM_000108.5(DLD):c.*1451T>C rs2108223 0.66202
NM_000108.5(DLD):c.439-7T>C rs10263341 0.66181
NM_012463.4(ATP6V0A2):c.471T>C (p.Ser157=) rs1399961 0.66054
NM_012463.4(ATP6V0A2):c.432+14C>T rs11837144 0.65907
NM_000108.5(DLD):c.*207G>A rs4564 0.65906
NM_000016.6(ACADM):c.*878T>C rs1146587 0.65645
NM_053013.4(ENO3):c.212A>G (p.Asn71Ser) rs238238 0.65415
NM_003748.4(ALDH4A1):c.*763T>C rs1138267 0.65227
NM_001875.5(CPS1):c.2679C>G (p.Gly893=) rs2287599 0.64925
NM_002291.3(LAMB1):c.5225-7C>T rs3213673 0.64814
NM_000320.3(QDPR):c.*510C>T rs1031327 0.64808
NM_000320.3(QDPR):c.*468A>C rs699460 0.64794
NM_003477.3(PDHX):c.*486G>T rs9326 0.64744
NM_000320.3(QDPR):c.*220T>C rs1049581 0.64638
NM_000320.3(QDPR):c.*221G>A rs1049582 0.64635
NM_005566.4(LDHA):c.483C>T (p.Ser161=) rs4687 0.64502
NM_005566.4(LDHA):c.519A>G (p.Leu173=) rs4820 0.64482
NM_005566.4(LDHA):c.*639T>C rs3758682 0.64017
NM_003748.4(ALDH4A1):c.1230A>G (p.Ser410=) rs7550938 0.63458
NM_003748.4(ALDH4A1):c.1221A>G (p.Ala407=) rs2230706 0.63390
NM_001701.4(BAAT):c.59G>A (p.Arg20Gln) rs1572983 0.63259
NM_058179.4(PSAT1):c.297T>G (p.Ala99=) rs3739474 0.62693
NM_020686.6(ABAT):c.*2114G>A rs11648372 0.62549
NM_001033044.4(GLUL):c.*2307C>T rs2296521 0.62516
NM_020686.6(ABAT):c.*990G>C rs4985000 0.62271
NM_020686.6(ABAT):c.*2567C>G rs12597124 0.62254
NM_002108.4(HAL):c.485-5T>C rs2302629 0.61949
NM_006623.3(PHGDH):c.-140A>G rs561931 0.61476
NM_000320.3(QDPR):c.*690A>G rs1031326 0.61178
NM_000183.2(HADHB):c.-201G>A rs3806516 0.60985
NM_003477.3(PDHX):c.858T>C (p.Val286=) rs497582 0.59662
NM_001875.5(CPS1):c.1032C>T (p.Thr344=) rs2229589 0.59558
NM_000017.4(ACADS):c.990C>T (p.Arg330=) rs3915 0.59445
NM_000207.3(INS):c.-17-6T>A rs689 0.59334
NM_000207.3(INS):c.*22A>C rs3842753 0.59307
NM_001033044.4(GLUL):c.*342T>A rs9347 0.59226
NM_000709.4(BCKDHA):c.376-10A>C rs3213861 0.59120
NM_003477.2(PDHX):c.-88C>A rs2956110 0.59089
NM_000275.3(OCA2):c.1065G>A (p.Ala355=) rs1800404 0.59023
NM_001033044.4(GLUL):c.*2644G>C rs2296523 0.58857
NM_001033044.4(GLUL):c.195T>C (p.Ser65=) rs1058111 0.58837
NM_001033044.4(GLUL):c.*919A>G rs7734 0.58827
NM_000458.4(HNF1B):c.*444= rs2688 0.58526
NM_003060.4(SLC22A5):c.-207C>G rs2631367 0.58257
NM_020166.5(MCCC1):c.1391A>C (p.His464Pro) rs2270968 0.58081
NM_018368.4(LMBRD1):c.*341C>T rs9185 0.56654
NM_000018.4(ACADVL):c.1605+6T>C rs17671352 0.56622
NM_014252.3(SLC25A15):c.-274T>C rs7997189 0.56484
NM_001482.3(GATM):c.*940C>T rs1049518 0.55910
NM_001482.3(GATM):c.1252T>C (p.Leu418=) rs1145086 0.55793
NM_003597.5(KLF11):c.*1853T>C rs7632 0.55083
NM_000429.3(MAT1A):c.1131C>T (p.Tyr377=) rs2993763 0.54479
NM_000429.3(MAT1A):c.1085+14C>T rs2994388 0.54474
NM_000275.3(OCA2):c.1551C>T (p.Cys517=) rs1800411 0.54427
NM_153006.3(NAGS):c.*3C>T rs186636 0.54224
NM_020686.6(ABAT):c.*1131G>A rs7205816 0.54125
NM_012463.4(ATP6V0A2):c.*1128T>C rs10744162 0.53964
NM_020686.6(ABAT):c.167A>G (p.Gln56Arg) rs1731017 0.53047
NM_012463.4(ATP6V0A2):c.*3425G>A rs2333834 0.52752
NM_000017.4(ACADS):c.321T>C (p.Arg107=) rs3914 0.51709
NM_000275.3(OCA2):c.1365-15C>T rs12910433 0.51222
NM_000550.3(TYRP1):c.*908T>C rs1063380 0.50921
NM_032383.5(HPS3):c.1494G>A (p.Gln498=) rs6440589 0.50726
NM_000018.3(ACADVL):c.-63_-49dup rs6145976 0.50677
NM_001358530.2(MOCS1):c.124-216A>G rs3008822 0.50249
NM_000550.3(TYRP1):c.*853A>C rs910 0.49606
NM_020686.6(ABAT):c.169-5T>C rs1641010 0.49394
NM_001715.3(BLK):c.330T>C (p.Ser110=) rs3816668 0.49161
NM_015702.3(MMADHC):c.*126A>G rs6923 0.49161
NM_000195.5(HPS1):c.*706C>G rs3830020 0.48408
NM_005566.4(LDHA):c.*720C>G rs3758683 0.48049
NM_000550.3(TYRP1):c.*123C>A rs683 0.48015
NM_005566.4(LDHA):c.*622A>G rs3758681 0.47986
NM_022081.6(HPS4):c.*1229C>T rs6147576 0.47868
NM_000352.6(ABCC8):c.207T>C (p.Pro69=) rs1048099 0.47531
NM_000275.3(OCA2):c.2328T>C (p.Ala776=) rs1800419 0.47440
NM_003748.4(ALDH4A1):c.1251C>T (p.Ala417=) rs2230707 0.47295
NM_000550.3(TYRP1):c.*404A>T rs2762464 0.46929
NM_000352.6(ABCC8):c.579+14C>T rs2301703 0.46493
NM_001482.3(GATM):c.*715T>C rs1049508 0.46090
NM_053013.4(ENO3):c.-3+3C>T rs366577 0.45968
NM_000195.5(HPS1):c.*982T>C rs1739 0.45933
NM_000195.5(HPS1):c.*955A>G rs1737 0.45932
NM_014049.5(ACAD9):c.379A>C (p.Arg127=) rs1680778 0.45398
NM_001482.3(GATM):c.330A>T (p.Gln110His) rs1288775 0.45330
NM_000137.4(FAH):c.82-13G>A rs1370275 0.45099
NM_022081.6(HPS4):c.*1962C>T rs5761533 0.44728
NM_000525.4(KCNJ11):c.*215C>T rs5210 0.44390
NM_000352.6(ABCC8):c.1686C>T (p.His562=) rs1799857 0.44260
NM_002108.4(HAL):c.*1241A>C rs1059844 0.44211
NM_000195.5(HPS1):c.*324T>C rs1061123 0.44036
NM_000525.4(KCNJ11):c.*441T>C rs2285676 0.43747
NM_014049.5(ACAD9):c.1279-7A>G rs1683787 0.43618
NM_000195.5(HPS1):c.*272C>T rs1061115 0.43400
NM_053013.4(ENO3):c.254T>C (p.Val85Ala) rs238239 0.43006
NM_001715.3(BLK):c.*176C>T rs1042689 0.42891
NM_183050.4(BCKDHB):c.197-11G>T rs9448894 0.42545
NM_000545.8(HNF1A):c.51C>G (p.Leu17=) rs1169289 0.42543
NM_002860.4(ALDH18A1):c.*155G>A rs1053905 0.42481
NM_001080.3(ALDH5A1):c.*253C>A rs1054899 0.42316
NM_003060.4(SLC22A5):c.285T>C (p.Leu95=) rs2631365 0.42203
NM_000081.4(LYST):c.1251A>G (p.Gln417=) rs1063128 0.41864
NM_000081.4(LYST):c.1683A>G (p.Leu561=) rs3820553 0.41844
NM_000081.4(LYST):c.4956A>G (p.Leu1652=) rs6696123 0.41826
NM_000081.4(LYST):c.5373G>A (p.Lys1791=) rs2273584 0.41769
NM_020686.6(ABAT):c.*915C>G rs3743801 0.41460
NM_001352514.2(HLCS):c.*3141_*3142dup rs3031056 0.40694
NM_005589.4(ALDH6A1):c.730+13A>C rs2072293 0.39899
NM_183050.4(BCKDHB):c.*731C>T rs4706117 0.39858
NM_020686.6(ABAT):c.*512G>A rs3743798 0.39781
NM_000352.6(ABCC8):c.3819G>A (p.Arg1273=) rs1799859 0.39734
NM_000071.3(CBS):c.*565C>T rs706209 0.39516
NM_000071.3(CBS):c.*544T>C rs706208 0.39461
NM_003060.4(SLC22A5):c.807A>G (p.Leu269=) rs274558 0.39440
NM_003060.4(SLC22A5):c.824+13T>C rs274557 0.39418
NM_014252.4(SLC25A15):c.*515A>G rs7322603 0.39342
NM_014252.4(SLC25A15):c.*353A>G rs9549293 0.39328
NM_000195.5(HPS1):c.*452G>A rs701801 0.39309
NM_014252.4(SLC25A15):c.*579C>T rs7321976 0.39308
NM_002860.4(ALDH18A1):c.2206+15G>A rs10882640 0.39029
NM_003748.4(ALDH4A1):c.*118G>A rs11740 0.38688
NM_003748.4(ALDH4A1):c.*702C>T rs3202002 0.38569
NM_000458.4(HNF1B):c.*274= rs2689 0.38166
NM_020686.6(ABAT):c.*476T>C rs1731071 0.37627
NM_020686.6(ABAT):c.*574A>G rs1641032 0.37580
NM_020686.6(ABAT):c.*571A>C rs1641031 0.37567
NM_001002755.4(NFU1):c.74T>A (p.Met25Lys) rs4453725 0.37294
NM_000352.6(ABCC8):c.2117-3C>T rs1799854 0.36733
NM_012463.4(ATP6V0A2):c.-14C>T rs1139320 0.36505
NM_003477.2(PDHX):c.-272G>A rs2956111 0.36407
NM_001875.5(CPS1):c.*438T>G rs7684 0.36145
NM_002203.4(ITGA2):c.*3986A>C rs7725246 0.35845
NM_181507.2(HPS5):c.*464C>A rs1046611 0.35745
NM_022081.6(HPS4):c.*1231C>T rs56271395 0.35531
NM_001080.3(ALDH5A1):c.538C>T (p.His180Tyr) rs2760118 0.35507
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu) rs1169288 0.35489
NM_022081.6(HPS4):c.1327C>G (p.Leu443Val) rs2014410 0.35365
NM_000195.5(HPS1):c.*1167G>A rs1061437 0.35147
NM_000298.6(PKLR):c.*1040G>A rs8847 0.35054
NM_000298.6(PKLR):c.*267C>T rs932972 0.35051
NM_000298.6(PKLR):c.1705C>A (p.Arg569=) rs1052176 0.35034
NM_002203.4(ITGA2):c.*2940G>A rs6898333 0.34995
NM_014251.3(SLC25A13):c.1194A>G (p.Leu398=) rs2301629 0.34968
NM_014252.4(SLC25A15):c.760A>T (p.Ile254Leu) rs17849654 0.34875
NM_001715.3(BLK):c.*428G>A rs1042701 0.34826
NM_000195.5(HPS1):c.*1217T>C rs3830025 0.34581
NM_000195.5(HPS1):c.*1215C>T rs3830024 0.34580
NM_003477.2(PDHX):c.-390G>A rs2956114 0.34353
NM_000429.3(MAT1A):c.*1297T>C rs1985908 0.34331
NM_000162.5(GCK):c.1253+8C>T rs2908274 0.34109
NM_181507.2(HPS5):c.*475C>T rs1046615 0.33956
NM_000162.5(GCK):c.*759del rs55714218 0.33944
NM_183235.3(RAB27A):c.*1926T>A rs8028801 0.33811
NM_181507.2(HPS5):c.*299C>T rs12419588 0.33793
NM_181507.2(HPS5):c.*300T>C rs12416821 0.33782
NM_000274.4(OAT):c.1134C>T (p.Asn378=) rs11461 0.33660
NM_000411.7(HLCS):c.-480-12A>G rs115866403 0.33322
NM_183235.3(RAB27A):c.*852C>T rs3179664 0.33294
NM_020686.6(ABAT):c.1381+9T>C rs1079348 0.33159
NM_001875.5(CPS1):c.4217C>A (p.Thr1406Asn) rs1047891 0.33052
NM_018368.4(LMBRD1):c.1407T>A (p.Asp469Glu) rs12648 0.32715
NM_020686.6(ABAT):c.984C>A (p.Val328=) rs1641022 0.32625
NM_000277.3(PAH):c.*187G>A rs1801153 0.32335
NM_020686.6(ABAT):c.*258G>C rs737695 0.31975
NM_001171993.2(HPD):c.-115+47G>A rs3741591 0.31802
NM_000360.4(TH):c.241G>A (p.Val81Met) rs6356 0.31555
NM_000108.5(DLD):c.*18A>T rs8721 0.31455
NM_001715.3(BLK):c.-190C>T rs922483 0.31162
NM_000108.5(DLD):c.*1688G>A rs8440 0.31157
NM_001482.2(GATM):c.-200C>T rs7164139 0.31090
NM_001918.5(DBT):c.1210-9A>T rs34229137 0.31080
NM_001482.3(GATM):c.*600A>G rs1049503 0.31074
NM_002203.4(ITGA2):c.*2999A>G rs6880055 0.31005
NM_000071.3(CBS):c.1080C>T (p.Ala360=) rs1801181 0.30942
NM_000016.6(ACADM):c.216+10T>C rs2275378 0.30596
NM_000545.8(HNF1A):c.*438G>A rs1169310 0.30485
NM_000545.8(HNF1A):c.1501+7G>A rs2464195 0.30441
NM_000545.8(HNF1A):c.*197G>T rs1169309 0.30438
NM_001918.5(DBT):c.*5317T>C rs11166413 0.30273
NM_000925.4(PDHB):c.438G>A (p.Gly146=) rs1126551 0.30058
NM_001902.5(CTH):c.*735G>A rs584229 0.29930
NM_003664.5(AP3B1):c.*107T>A rs11552314 0.29901
NM_000289.5(PFKM):c.-112T>G rs12306290 0.29895
NM_001366110.1(PAX4):c.*477C>T rs327520 0.29767
NM_000925.4(PDHB):c.*243A>C rs1126722 0.29583
NM_000017.4(ACADS):c.*527A>G rs9204 0.29435
NM_001080.3(ALDH5A1):c.*1840G>A rs2744602 0.29135
NM_000481.4(AMT):c.*696C>T rs10640 0.29031
NM_000071.3(CBS):c.699C>T (p.Tyr233=) rs234706 0.28613
NM_000284.4(PDHA1):c.795A>G (p.Ala265=) rs1126565 0.28594
NM_000481.4(AMT):c.954G>A (p.Arg318=) rs11715915 0.28593
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716 0.28514
NM_000320.3(QDPR):c.396G>A (p.Leu132=) rs2597775 0.28406
NM_000320.3(QDPR):c.*622T>C rs10604 0.28366
NM_000925.4(PDHB):c.*353T>C rs1126735 0.28091
NM_002860.4(ALDH18A1):c.*699C>T rs4037 0.28027
NM_032383.5(HPS3):c.981A>G (p.Thr327=) rs11718908 0.28006
NM_002860.4(ALDH18A1):c.*412T>C rs8758 0.27959
NM_001875.5(CPS1):c.*346T>C rs715 0.27930
NM_183235.3(RAB27A):c.*1931T>C rs6493770 0.27860
NM_000195.5(HPS1):c.-51C>A rs1804689 0.27683
NM_183235.2(RAB27A):c.*2554C>T rs28564077 0.27672
NM_000360.4(TH):c.977+8C>G rs12419447 0.27597
NM_183235.3(RAB27A):c.*14C>T rs1050931 0.27464
NM_183235.3(RAB27A):c.*1662A>T rs1061823 0.27450
NM_183235.3(RAB27A):c.*936C>A rs1061870 0.27449
NM_183235.3(RAB27A):c.*949A>G rs1061873 0.27447
NM_183235.3(RAB27A):c.*1594A>G rs1061821 0.27431
NM_183235.3(RAB27A):c.*1647T>G rs1061822 0.27431
NM_183235.3(RAB27A):c.*1742A>G rs1061824 0.27430
NM_183235.3(RAB27A):c.*1427G>A rs1061875 0.27307
NM_183235.3(RAB27A):c.*1418T>A rs1061874 0.27298
NM_001902.6(CTH):c.*523A>T rs583316 0.27281
NM_183235.3(RAB27A):c.*2007G>A rs6493769 0.27179
NM_000458.4(HNF1B):c.*99C>A rs2229295 0.27047
NM_000531.6(OTC):c.137A>G (p.Lys46Arg) rs1800321 0.26575
NM_020686.6(ABAT):c.*1405C>T rs7201586 0.26539
NM_000411.8(HLCS):c.-405T>C rs117476389 0.26368
NM_000545.8(HNF1A):c.1460G>A (p.Ser487Asn) rs2464196 0.26206
NM_000545.8(HNF1A):c.1375C>T (p.Leu459=) rs2259820 0.26141
NM_000195.5(HPS1):c.636C>T (p.Leu212=) rs1801287 0.25851
NM_000411.7(HLCS):c.-466A>G rs117138955 0.25759
NM_000411.7(HLCS):c.-471A>G rs118091633 0.25745
NM_003748.4(ALDH4A1):c.*712C>T rs14311 0.25638
NM_000411.8(HLCS):c.-433C>T rs115711809 0.25319
NM_001080.3(ALDH5A1):c.726+8G>A rs2817220 0.25132
NM_000545.8(HNF1A):c.864G>C (p.Gly288=) rs56348580 0.25042
NM_175914.5(HNF4A):c.*1132C>T rs6130615 0.24797
NM_003748.4(ALDH4A1):c.*1198A>G rs7366541 0.24677
NM_003748.4(ALDH4A1):c.*1275A>C rs1138333 0.24672
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_001875.5(CPS1):c.*692C>G rs12476133 0.24256
NM_003748.4(ALDH4A1):c.*921G>A rs1138269 0.24248
NM_003748.4(ALDH4A1):c.*925C>T rs1140477 0.24236
NM_014049.5(ACAD9):c.1476C>T (p.Pro492=) rs876755 0.24221
NM_003748.4(ALDH4A1):c.*1239G>C rs1138328 0.24081
NM_003664.5(AP3B1):c.2016T>C (p.Ala672=) rs42360 0.23948
NM_000360.4(TH):c.720G>A (p.Lys240=) rs6357 0.23916
NM_000016.6(ACADM):c.1161A>G (p.Val387=) rs1061337 0.23824
NM_001902.6(CTH):c.1208G>T (p.Ser403Ile) rs1021737 0.23572
NM_005589.4(ALDH6A1):c.*1934T>C rs10200 0.23558
NM_005589.4(ALDH6A1):c.*1157G>C rs4646866 0.23461
NM_005589.4(ALDH6A1):c.*1148C>T rs4646865 0.23441
NM_004577.4(PSPH):c.159C>T (p.Gly53=) rs74874687 0.23305
NM_004577.4(PSPH):c.145C>T (p.Arg49Trp) rs79451216 0.23299
NM_000137.4(FAH):c.-105G>C rs112474268 0.23230
NM_000284.4(PDHA1):c.*1394C>T rs55856360 0.22991
NM_000284.4(PDHA1):c.760-15C>A rs7058209 0.22904
NM_000284.4(PDHA1):c.*1059G>A rs15816 0.22867
NM_000284.4(PDHA1):c.*844A>G rs1042453 0.22833
NM_000284.4(PDHA1):c.*728C>T rs1042452 0.22767
NM_000525.4(KCNJ11):c.570C>T (p.Ala190=) rs5218 0.22765
NM_000429.3(MAT1A):c.92-9C>G rs10887721 0.22736
NM_000284.4(PDHA1):c.*319G>T rs1042449 0.22677
NM_000284.4(PDHA1):c.*322G>A rs1042450 0.22629
NM_000170.3(GLDC):c.501G>A (p.Glu167=) rs35374927 0.22564
NM_000925.4(PDHB):c.*99C>T rs7230 0.22245
NM_000925.4(PDHB):c.*356A>G rs1126737 0.22224
NM_001902.6(CTH):c.*592C>T rs6677781 0.22168
NM_000458.4(HNF1B):c.*924C>G rs10962 0.22156
NM_000161.3(GCH1):c.*243C>T rs841 0.22091
NM_003477.2(PDHX):c.-129C>T rs112032820 0.22090
NM_000071.3(CBS):c.*123C>G rs1051319 0.21968
NM_003477.3(PDHX):c.301A>G (p.Thr101Ala) rs11539202 0.21800
NM_014324.6(AMACR):c.*663G>A rs15612 0.21767
NM_000170.3(GLDC):c.249G>A (p.Gly83=) rs12341698 0.21682
NM_000195.5(HPS1):c.1599-15A>G rs2296435 0.21496
NM_000017.4(ACADS):c.*21G>C rs3916 0.21460
NM_002108.4(HAL):c.*110C>A rs2230885 0.21171
NM_004453.4(ETFDH):c.*135A>C rs17843966 0.21115
NM_000195.5(HPS1):c.1397+7G>C rs2296432 0.20947
NM_000195.5(HPS1):c.1397+8G>T rs2296433 0.20935
NM_000284.4(PDHA1):c.*1377G>A rs56039350 0.20892
NM_181507.2(HPS5):c.3058+9A>G rs2049129 0.20713
NM_000429.3(MAT1A):c.*1206G>A rs1832683 0.20619
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958 0.20617
NC_000012.12:g.95996374T>C rs7970524 0.20425
NM_014252.4(SLC25A15):c.*1855C>A rs9566580 0.20154
NM_000429.3(MAT1A):c.*67C>T rs7087728 0.20071
NM_004531.5(MOCS2):c.*2158C>T rs17298242 0.20066
NM_000275.3(OCA2):c.2364G>A (p.Ser788=) rs12592307 0.19938
NM_024747.6(HPS6):c.*178T>G rs3816 0.19913
NM_000277.3(PAH):c.735G>A (p.Val245=) rs1042503 0.19782
NM_000096.4(CP):c.*769G>A rs1053669 0.19723
NM_003477.2(PDHX):c.-202A>G rs113073242 0.19613
NM_003477.2(PDHX):c.-505G>A rs16926448 0.19609
NM_003477.3(PDHX):c.108T>C (p.Ser36=) rs1049307 0.19592
NM_003477.3(PDHX):c.67C>T (p.Arg23Cys) rs1049306 0.19588
NM_000289.6(PFKM):c.516C>T (p.Thr172=) rs1049392 0.18973
NM_000162.5(GCK):c.*332G>A rs13306388 0.18894
NM_003748.4(ALDH4A1):c.*444T>C rs9117 0.18721
NM_003664.5(AP3B1):c.1038T>C (p.Asn346=) rs4532349 0.18606
NM_000050.4(ASS1):c.-323G>T rs2071367 0.18565
NM_003477.2(PDHX):c.-124G>C rs375130125 0.18392
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_175914.5(HNF4A):c.50-5C>T rs745975 0.17964
NM_000458.4(HNF1B):c.*384A>G rs1058166 0.17933
NM_005589.4(ALDH6A1):c.*155T>C rs8204 0.17644
NM_000183.2(HADHB):c.-214C>T rs72809668 0.17558
NM_000182.5(HADHA):c.*302G>A rs1049987 0.17222
NM_181507.2(HPS5):c.*804C>T rs1046628 0.17195
NM_000182.5(HADHA):c.474C>T (p.Tyr158=) rs11552518 0.16973
NM_022081.6(HPS4):c.*1233C>T rs770072939 0.16771
NM_000353.3(TAT):c.43C>T (p.Pro15Ser) rs74344827 0.16727
NM_000207.3(INS):c.*9C>T rs3842752 0.16663
NM_000289.6(PFKM):c.2093-14A>G rs11168427 0.16418
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500 0.16379
NM_153006.3(NAGS):c.1086T>C (p.Phe362=) rs55708447 0.16339
NM_000352.6(ABCC8):c.1947G>A (p.Lys649=) rs1799858 0.16150
NM_005589.4(ALDH6A1):c.112-11G>T rs2302126 0.15764
NM_032383.5(HPS3):c.2526C>T (p.His842=) rs3732557 0.15600
NM_001701.4(BAAT):c.*1458G>A rs59311341 0.15501
NM_001701.4(BAAT):c.*589C>T rs41274983 0.15466
NM_001701.4(BAAT):c.*611G>A rs41274981 0.15464
NM_004531.5(MOCS2):c.*413del rs3839261 0.15118
NM_000531.6(OTC):c.299-8T>A rs73196229 0.15031
NM_000352.6(ABCC8):c.2485C>T (p.Leu829=) rs1805036 0.14682
NM_000277.3(PAH):c.-71A>C rs2280615 0.14554
NM_000016.6(ACADM):c.*672T>C rs8763 0.14503
NM_000126.4(ETFA):c.39+12C>G rs62027051 0.14273
NM_002108.4(HAL):c.777A>G (p.Pro259=) rs36014288 0.14272
NM_020686.6(ABAT):c.*2304T>A rs9456 0.14101
NM_020686.6(ABAT):c.*1558G>A rs45515994 0.14096
NM_020686.6(ABAT):c.*2545C>T rs8275 0.14070
NM_020686.6(ABAT):c.*1575A>G rs45615432 0.14064
NM_181507.2(HPS5):c.1165-15C>A rs7128146 0.13983
NM_005327.7(HADH):c.-38T>C rs17550794 0.13904
NM_000545.8(HNF1A):c.1545G>A (p.Thr515=) rs55834942 0.13864
NM_181507.1(HPS5):c.-251C>A rs4150530 0.13814
NM_181507.2(HPS5):c.1249C>A (p.Leu417Met) rs7128017 0.13791
NM_020686.6(ABAT):c.*244C>A rs2270289 0.13709
NM_000081.4(LYST):c.153A>C (p.Gly51=) rs11464 0.13219
NM_000429.3(MAT1A):c.*982A>T rs1934144 0.13138
NM_175914.5(HNF4A):c.*392T>G rs11086926 0.13032
NM_001918.5(DBT):c.*6903T>A rs10783125 0.12973
NM_000016.6(ACADM):c.-362T>C rs1251076 0.12826
NM_005566.4(LDHA):c.348C>A (p.Ile116=) rs6498 0.12798
NM_002150.3(HPD):c.94-6A>T rs2707072 0.12768
NM_003477.3(PDHX):c.-4C>G rs3818401 0.12767
NM_000137.3(FAH):c.*310T>A rs75212096 0.12315
NM_000137.4(FAH):c.*94T>C rs1049194 0.12301
NM_058179.4(PSAT1):c.*422C>T rs10867185 0.12240
NM_054012.4(ASS1):c.501C>T (p.His167=) rs10901072 0.12154
NM_001918.5(DBT):c.*9082C>T rs72728160 0.12046
NM_014252.4(SLC25A15):c.333C>T (p.Ala111=) rs9577152 0.11997
NM_001352514.2(HLCS):c.1275C>T (p.Ser425=) rs1065758 0.11920
NM_000545.8(HNF1A):c.*1268G>A rs41279096 0.11781
NM_006623.3(PHGDH):c.*200A>G rs17258425 0.11740
NM_022081.6(HPS4):c.-530A>G rs3747137 0.11724
NM_032383.5(HPS3):c.*172G>A rs34511277 0.11672
NM_175914.5(HNF4A):c.*2366G>C rs3212211 0.11643
NM_001482.3(GATM):c.-30T>G rs8024550 0.11642
NM_004531.5(MOCS2):c.*1011G>A rs1445940 0.11615
NM_004531.5(MOCS2):c.*1872C>T rs77227647 0.11611
NM_000687.4(AHCY):c.973-7C>T rs17091705 0.11442
NM_000687.4(AHCY):c.*679A>T rs4239 0.11416
NM_002203.4(ITGA2):c.*3918G>C rs10471829 0.11354
NM_002203.4(ITGA2):c.*2574C>G rs75427194 0.11349
NM_002203.4(ITGA2):c.*3164G>A rs7737412 0.11348
NM_002203.4(ITGA2):c.*1252G>A rs1042324 0.11343
NM_004531.5(MOCS2):c.*2032G>A rs75571463 0.11337
NM_032383.5(HPS3):c.*128A>G rs73019023 0.11195
NM_005589.4(ALDH6A1):c.*433C>T rs1135886 0.11114
NM_183235.3(RAB27A):c.*1392A>C rs12907749 0.11078
NM_005589.4(ALDH6A1):c.*2816T>C rs1536 0.11048
NM_003748.4(ALDH4A1):c.1408G>A (p.Val470Ile) rs2230709 0.11004
NM_000108.5(DLD):c.*28G>T rs17154615 0.10964
NM_000081.4(LYST):c.2355T>C (p.Leu785=) rs3768066 0.10928
NM_000320.3(QDPR):c.*403A>G rs1049600 0.10881
NM_000320.3(QDPR):c.*408C>T rs1049601 0.10880
NM_054012.4(ASS1):c.876T>C (p.His292=) rs1057484 0.10667
NM_004531.5(MOCS2):c.*2415C>T rs16880872 0.10619
NM_000161.3(GCH1):c.*732A>G rs45454691 0.10500
NM_003477.3(PDHX):c.798T>C (p.Pro266=) rs61760973 0.10477
NM_002203.4(ITGA2):c.*4098C>G rs10471830 0.10454
NM_002203.4(ITGA2):c.*2939C>T rs7700416 0.10451
NM_183235.3(RAB27A):c.*2067C>G rs7168226 0.10411
NM_000274.4(OAT):c.*185C>T rs2459216 0.10300
NM_002860.4(ALDH18A1):c.896C>T (p.Thr299Ile) rs2275272 0.10214
NM_000195.5(HPS1):c.1808A>G (p.Gln603Arg) rs2296436 0.09989
NM_000709.3(BCKDHA):c.-34T>G rs45500792 0.09943
NM_000048.4(ASL):c.*265C>T rs465359 0.09815
NM_000048.4(ASL):c.*323G>A rs160643 0.09813
NC_000012.12:g.6867524A>G rs1800200 0.09809
NM_000048.4(ASL):c.*287C>T rs160644 0.09796
NM_000048.4(ASL):c.*268G>C rs462853 0.09790
NM_012463.4(ATP6V0A2):c.*3553G>A rs73420351 0.09739
NM_001875.5(CPS1):c.2193-15G>T rs2287600 0.09707
NM_002108.4(HAL):c.921T>C (p.Asn307=) rs11108364 0.09584
NM_020686.6(ABAT):c.309C>T (p.Val103=) rs2229157 0.09544
NM_003060.4(SLC22A5):c.*47C>T rs1045020 0.09512
NM_000429.3(MAT1A):c.*995del rs5786439 0.09363
NM_000081.4(LYST):c.4392C>T (p.Asn1464=) rs11583387 0.09239
NM_014049.5(ACAD9):c.*31G>A rs9830739 0.09177
NM_000071.3(CBS):c.*299G>A rs12613 0.09051
NM_001370658.1(BTD):c.1353T>C (p.Cys451=) rs3817641 0.08986
NM_003597.5(KLF11):c.185A>G (p.Gln62Arg) rs35927125 0.08880
NM_014252.4(SLC25A15):c.*2328G>T rs9577154 0.08819
NM_000365.6(TPI1):c.*420T>C rs58194764 0.08694
NM_005271.5(GLUD1):c.942A>G (p.Leu314=) rs9421572 0.08685
NM_001482.3(GATM):c.*913G>A rs17618637 0.08643
NM_014252.4(SLC25A15):c.117G>A (p.Thr39=) rs41396747 0.08535
NM_003597.5(KLF11):c.*544C>A rs4444493 0.08457
NM_014324.6(AMACR):c.*227T>G rs6863560 0.08265
NM_005327.7(HADH):c.*109T>A rs221347 0.07950
NM_024747.6(HPS6):c.516G>A (p.Gly172=) rs3737243 0.07919
NM_000709.4(BCKDHA):c.116C>A (p.Pro39His) rs11549936 0.07892
NM_003597.5(KLF11):c.*435A>T rs72786612 0.07883
NM_014252.4(SLC25A15):c.*929G>C rs17061602 0.07878
NM_000429.3(MAT1A):c.-73A>G rs369803796 0.07734
NM_000275.3(OCA2):c.913C>T (p.Arg305Trp) rs1800401 0.07659
NM_001366110.1(PAX4):c.*402T>C rs327519 0.07655
NM_014252.4(SLC25A15):c.*684C>T rs111782657 0.07643
NM_001875.5(CPS1):c.*380C>G rs10932349 0.07637
NM_000161.3(GCH1):c.*1230C>T rs56130647 0.07553
NM_000137.4(FAH):c.267G>C (p.Leu89=) rs33929922 0.07529
NM_002108.4(HAL):c.423A>T (p.Thr141=) rs2302628 0.07463
NM_003060.4(SLC22A5):c.-107G>T rs13180186 0.07430
NM_000156.6(GAMT):c.*276C>T rs266810 0.07427
NM_003060.4(SLC22A5):c.-139G>T rs13180169 0.07424
NM_003060.4(SLC22A5):c.-77G>A rs13180295 0.07424
NM_003060.4(SLC22A5):c.-78C>T rs13180043 0.07424
NM_000156.6(GAMT):c.*146A>C rs659455 0.07418
NM_000156.6(GAMT):c.*151T>C rs659460 0.07383
NM_000353.3(TAT):c.309G>A (p.Ser103=) rs78302875 0.07372
NM_001358530.2(MOCS1):c.*1893G>C rs3008816 0.07361
NM_000207.3(INS):c.-18+4_-18+5insTTGC rs3842740 0.07357
NM_020686.6(ABAT):c.1270-4A>G rs12447235 0.07354
NM_014252.4(SLC25A15):c.*610G>T rs7320743 0.07290
NM_001080.3(ALDH5A1):c.1402+7G>A rs12211574 0.07141
NM_000170.3(GLDC):c.660C>T (p.Leu220=) rs2228095 0.07130
NM_001080.3(ALDH5A1):c.*2115C>T rs34809203 0.07077
NM_001080.3(ALDH5A1):c.*2766G>A rs13197086 0.07032
NM_000156.6(GAMT):c.626C>T (p.Thr209Met) rs17851582 0.07010
NM_001358530.2(MOCS1):c.*824C>G rs11968491 0.06790
NM_000137.3(FAH):c.*284C>G rs79203348 0.06789
NM_001358530.2(MOCS1):c.583+10T>A rs34757428 0.06768
NC_000019.10:g.45181810T>C rs78979751 0.06757
NM_001701.4(BAAT):c.-116G>A rs117775873 0.06702
NM_000352.6(ABCC8):c.330C>T (p.Ala110=) rs8192695 0.06691
NM_183050.4(BCKDHB):c.*832C>T rs60566469 0.06661
NM_001352514.2(HLCS):c.*259T>C rs73398122 0.06633
NM_002108.4(HAL):c.*1499A>G rs3812807 0.06609
NM_000156.6(GAMT):c.*311C>G rs266811 0.06572
NM_000320.3(QDPR):c.345G>A (p.Ser115=) rs3733570 0.06567
NM_000162.5(GCK):c.-84C>G rs13306391 0.06548
NM_003748.4(ALDH4A1):c.1417A>G (p.Thr473Ala) rs6695033 0.06532
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=) rs692003 0.06494
NM_000170.3(GLDC):c.438G>A (p.Thr146=) rs13289273 0.06458
NM_000126.4(ETFA):c.512C>T (p.Thr171Ile) rs1801591 0.06414
NM_000274.4(OAT):c.*535T>C rs8182 0.06407
NM_014252.4(SLC25A15):c.*1641G>T rs149457069 0.06406
NM_001080.3(ALDH5A1):c.*1268C>A rs12190214 0.06392
NM_003748.4(ALDH4A1):c.1548C>T (p.Gly516=) rs61749348 0.06385
NM_000284.4(PDHA1):c.*614G>T rs5955761 0.06313
NM_001358530.2(MOCS1):c.716T>A (p.Leu239His) rs7762875 0.06302
NM_000289.5(PFKM):c.-171C>A rs41291959 0.06201
NM_000289.6(PFKM):c.246G>A (p.Thr82=) rs2228501 0.06196
NM_000162.5(GCK):c.*477C>T rs2908275 0.06179
NM_000108.5(DLD):c.684+7G>A rs75123588 0.06110
NM_001358530.2(MOCS1):c.*451C>T rs41273136 0.06093
NM_000137.4(FAH):c.1056C>T (p.Ser352=) rs1801374 0.06041
NC_000003.12:g.58427626_58427627del rs35161513 0.06029
NM_000284.4(PDHA1):c.*1598G>C rs11094770 0.06012
NM_005589.4(ALDH6A1):c.*494A>T rs77324906 0.05972
NM_000545.8(HNF1A):c.*603G>A rs11065390 0.05950
NM_020686.6(ABAT):c.*1210T>C rs17674530 0.05905
NM_000081.4(LYST):c.2316C>T (p.Asp772=) rs16832868 0.05899
NM_000081.4(LYST):c.5847G>C (p.Gln1949His) rs6665568 0.05891
NM_005589.4(ALDH6A1):c.*642C>T rs4646864 0.05891
NM_000081.4(LYST):c.6630A>G (p.Glu2210=) rs34466404 0.05877
NM_000531.6(OTC):c.718-14T>C rs55722856 0.05854
NM_004531.5(MOCS2):c.*1673T>C rs73756617 0.05783
NM_001358530.2(MOCS1):c.*1334A>C rs3749999 0.05702
NM_001366110.1(PAX4):c.543A>G (p.Gln181=) rs327517 0.05634
NM_016180.5(SLC45A2):c.814G>A (p.Glu272Lys) rs26722 0.05621
NM_000275.3(OCA2):c.2058A>C (p.Ala686=) rs1800416 0.05476
NM_000429.3(MAT1A):c.*1092C>G rs41284062 0.05472
NM_001358530.2(MOCS1):c.698C>T (p.Ala233Val) rs35825585 0.05422
NM_004577.4(PSPH):c.*406G>A rs145544909 0.05387
NM_004577.4(PSPH):c.*490C>T rs71543776 0.05383
NM_004577.4(PSPH):c.*11C>T rs35136814 0.05380
NM_012463.4(ATP6V0A2):c.*3603G>A rs73420352 0.05364
NM_000161.3(GCH1):c.-40C>T rs28458175 0.05363
NM_003664.5(AP3B1):c.1969-10G>A rs77009095 0.05363
NM_012463.4(ATP6V0A2):c.*574C>T rs112521789 0.05337
NM_000161.3(GCH1):c.*1183C>T rs76009965 0.05289
NM_000016.6(ACADM):c.-34T>C rs59932454 0.05213
NM_000016.6(ACADM):c.351A>C (p.Thr117=) rs74090726 0.05204
NM_003477.3(PDHX):c.*173G>A rs75863418 0.05112
NM_000016.6(ACADM):c.*773G>A rs61612438 0.05111
NM_003477.3(PDHX):c.*200T>C rs16926653 0.05109
NM_003477.3(PDHX):c.339C>T (p.Ile113=) rs34582941 0.05105
NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile) rs8192690 0.05059
NM_003477.3(PDHX):c.241+3G>A rs78878052 0.04995
NM_003477.3(PDHX):c.*890T>C rs1049333 0.04989
NM_000161.3(GCH1):c.-131C>T rs115939621 0.04950
NM_000195.5(HPS1):c.297C>T (p.Thr99=) rs11539873 0.04930
NM_000275.3(OCA2):c.1256G>A (p.Arg419Gln) rs1800407 0.04917
NM_054012.4(ASS1):c.597+8C>T rs77343702 0.04911
NM_000016.6(ACADM):c.-401G>A rs114005461 0.04873
NM_014049.5(ACAD9):c.-44_-41dup rs387906242 0.04863
NM_001080.3(ALDH5A1):c.610-5C>T rs76752785 0.04857
NM_001080.3(ALDH5A1):c.*2059C>T rs13196003 0.04759
NM_000017.4(ACADS):c.*249G>A rs628909 0.04756
NM_001080.3(ALDH5A1):c.*385G>C rs13218365 0.04756
NM_001918.5(DBT):c.1210-10T>A rs183058253 0.04736
NM_020686.6(ABAT):c.*1333A>G rs17566580 0.04725
NM_001366110.1(PAX4):c.474C>T (p.Gly158=) rs77039439 0.04703
NM_003664.5(AP3B1):c.1683C>T (p.Leu561=) rs17192146 0.04676
NM_001352514.2(HLCS):c.*521C>T rs9967991 0.04663
NM_014324.6(AMACR):c.*963C>T rs6898962 0.04660
NM_001715.3(BLK):c.*92G>C rs14053 0.04621
NM_001918.5(DBT):c.*4395G>A rs79471979 0.04616
NM_000550.3(TYRP1):c.259C>A (p.Arg87=) rs34509359 0.04615
NM_000137.4(FAH):c.1180+4A>G rs60585303 0.04595
NM_000195.5(HPS1):c.*694C>T rs7075480 0.04558
NM_000182.5(HADHA):c.*510A>T rs13432453 0.04522
NM_000016.6(ACADM):c.-142C>G rs61124994 0.04520
NM_001358530.2(MOCS1):c.*987C>T rs7758412 0.04471
NM_001358530.2(MOCS1):c.*1348_*1351dup rs397953334 0.04461
NM_000550.3(TYRP1):c.729T>C (p.Ser243=) rs35866166 0.04447
NM_001918.5(DBT):c.*985C>T rs11166414 0.04442
NM_000195.5(HPS1):c.987+13T>C rs12571249 0.04438
NM_000195.5(HPS1):c.*473G>A rs3830019 0.04437
NM_001358530.2(MOCS1):c.*378G>A rs11968529 0.04433
NM_000277.3(PAH):c.1278T>C (p.Asn426=) rs59326968 0.04425
NM_000161.3(GCH1):c.*1056_*1057insAT rs144676716 0.04397
NM_000081.4(LYST):c.574T>G (p.Leu192Val) rs7524261 0.04386
NM_001918.5(DBT):c.*5838G>A rs79887429 0.04380
NM_000108.5(DLD):c.1351C>T (p.Leu451=) rs1803921 0.04354
NM_000048.4(ASL):c.602+13C>T rs12536292 0.04315
NM_020686.6(ABAT):c.*298C>T rs737694 0.04305
NM_012463.4(ATP6V0A2):c.*3227C>G rs111540619 0.04290
NM_183050.4(BCKDHB):c.*236G>A rs145101575 0.04280
NM_000550.3(TYRP1):c.-161G>T rs7867043 0.04161
NM_005327.7(HADH):c.636+13G>A rs17511214 0.04139
NM_000161.3(GCH1):c.*1142G>A rs10151500 0.04130
NM_000045.4(ARG1):c.270C>T (p.Asn90=) rs34504481 0.04124
NM_014324.6(AMACR):c.*617G>T rs12659370 0.04114
NM_175914.5(HNF4A):c.*305A>G rs56343153 0.04078
NM_175914.5(HNF4A):c.*242T>C rs41282030 0.04068
NM_001352514.2(HLCS):c.727G>A (p.Val243Ile) rs61732502 0.04059
NM_000081.4(LYST):c.8411G>A (p.Gly2804Asp) rs35333195 0.04044
NM_000353.3(TAT):c.1173G>A (p.Glu391=) rs16973331 0.04038
NM_000429.3(MAT1A):c.*299G>A rs7097297 0.04036
NM_000081.4(LYST):c.3989A>C (p.Asp1330Ala) rs74641549 0.04030
NM_000016.6(ACADM):c.*39G>A rs17848065 0.04004
NM_000170.3(GLDC):c.1384C>G (p.Leu462Val) rs73400312 0.04004
NM_001008216.2(GALE):c.-77+311C>T rs113324056 0.03995
NM_005327.4(HADH):c.*818A>G rs17511319 0.03973
NM_000360.4(TH):c.210T>C (p.Ala70=) rs7950050 0.03941
NM_001352514.2(HLCS):c.567G>T (p.Glu189Asp) rs61732504 0.03941
NM_000156.6(GAMT):c.571-6G>A rs2074899 0.03927
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) rs1800467 0.03859
NM_004577.3(PSPH):c.-632C>T rs34822782 0.03837
NM_000126.4(ETFA):c.*268A>G rs80292319 0.03836
NM_001358530.2(MOCS1):c.1800C>T (p.Ala600=) rs41273138 0.03810
NM_000429.3(MAT1A):c.*569C>G rs78720701 0.03798
NM_175914.5(HNF4A):c.135C>T (p.Ala45=) rs736823 0.03705
NM_000081.4(LYST):c.3050G>A (p.Ser1017Asn) rs10465613 0.03661
NM_000195.5(HPS1):c.11T>C (p.Val4Ala) rs58548334 0.03653
NM_001358530.2(MOCS1):c.1169C>A (p.Pro390His) rs11969769 0.03639
NM_001701.4(BAAT):c.*1090A>G rs76498584 0.03623
NM_000284.4(PDHA1):c.-88G>A rs5955751 0.03606
NM_022081.6(HPS4):c.558G>A (p.Ser186=) rs13054747 0.03591
NM_003748.4(ALDH4A1):c.-4C>A rs9426797 0.03554
NM_002108.4(HAL):c.*530T>G rs117562170 0.03547
NM_002300.8(LDHB):c.-81G>C rs74069329 0.03540
NM_000429.3(MAT1A):c.*529G>A rs10509413 0.03535
NM_014252.4(SLC25A15):c.*1626A>G rs59670947 0.03522
NM_002108.4(HAL):c.-127C>A rs11108369 0.03510
NC_000012.12:g.6867521G>A rs1800201 0.03488
NM_001902.6(CTH):c.*544G>A rs45615634 0.03474
NM_002860.4(ALDH18A1):c.-79A>G rs117502632 0.03469
NM_000320.3(QDPR):c.255C>T (p.Cys85=) rs12645938 0.03464
NM_000018.4(ACADVL):c.194C>T (p.Pro65Leu) rs28934585 0.03462
NM_014252.4(SLC25A15):c.*2097T>A rs17592947 0.03453
NM_000352.6(ABCC8):c.-49G>C rs77498130 0.03452
NM_001918.5(DBT):c.715A>G (p.Ile239Val) rs72973763 0.03442
NM_002860.4(ALDH18A1):c.1770C>T (p.Ser590=) rs11541780 0.03433
NM_003748.4(ALDH4A1):c.*502A>G rs1802783 0.03425
NM_005589.4(ALDH6A1):c.*2994A>C rs114251476 0.03392
NM_001080.3(ALDH5A1):c.*2581T>C rs41271789 0.03364
NM_014324.6(AMACR):c.*1070C>T rs16892064 0.03353
NM_001366110.1(PAX4):c.*492G>A rs405576 0.03297
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp) rs1800556 0.03280
NM_001358530.2(MOCS1):c.*1928C>G rs73414848 0.03274
NM_004531.5(MOCS2):c.148A>G (p.Thr50Ala) rs2233213 0.03267
NM_004531.5(MOCS2):c.255A>G (p.Lys85=) rs2233216 0.03263
NM_001875.5(CPS1):c.4275-10A>G rs41272673 0.03250
NM_032383.5(HPS3):c.1479G>A (p.Thr493=) rs34197730 0.03245
NM_014252.3(SLC25A15):c.-259G>C rs191621874 0.03242
NM_001033044.4(GLUL):c.*2021G>T rs16858921 0.03236
NM_001033044.4(GLUL):c.*922A>G rs8762 0.03233
NM_001033044.4(GLUL):c.*465A>G rs16828882 0.03228
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_005271.5(GLUD1):c.1060-10T>A rs17096421 0.03225
NM_001033044.4(GLUL):c.-125A>G rs112448103 0.03169
NC_000001.11:g.182392208A>G rs59310772 0.03155
NM_000045.3(ARG1):c.-65C>T rs17788484 0.03152
NM_006721.4(ADK):c.705T>C (p.Asp235=) rs16931480 0.03126
NM_001358530.2(MOCS1):c.583+6C>T rs111409017 0.03125
NM_020686.6(ABAT):c.129G>A (p.Gly43=) rs2228081 0.03085
NM_014252.4(SLC25A15):c.*48T>A rs145530626 0.03065
NM_000096.4(CP):c.2991T>C (p.His997=) rs34394958 0.03057
NM_001918.5(DBT):c.*6646G>T rs72973747 0.03031
NM_002860.4(ALDH18A1):c.1977C>T (p.Ser659=) rs1804934 0.02975
NM_022081.6(HPS4):c.*1250C>T rs7291576 0.02974
NM_000081.4(LYST):c.7857T>C (p.His2619=) rs34160788 0.02966
NM_000081.4(LYST):c.6900G>A (p.Leu2300=) rs10926586 0.02954
NM_000290.4(PGAM2):c.324G>A (p.Gly108=) rs112828964 0.02943
NM_181507.2(HPS5):c.*1068T>A rs112456564 0.02934
NM_000458.4(HNF1B):c.*777G>A rs17138512 0.02929
NM_181507.2(HPS5):c.*443T>A rs74602396 0.02922
NM_020686.6(ABAT):c.1147C>T (p.Leu383=) rs2229158 0.02911
NM_014324.6(AMACR):c.*1961G>A rs113746028 0.02910
NM_000458.4(HNF1B):c.*47T>G rs8068014 0.02908
NM_000709.4(BCKDHA):c.1260C>T (p.Leu420=) rs34492894 0.02893
NM_000429.3(MAT1A):c.*1292G>C rs58141836 0.02887
NM_000081.4(LYST):c.7137A>C (p.Leu2379=) rs61738992 0.02884
NM_002108.4(HAL):c.*617G>A rs113875416 0.02879
NM_000277.3(PAH):c.707-7A>T rs62508624 0.02868
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328 0.02868
NM_003597.5(KLF11):c.*1781T>C rs6722205 0.02856
NM_000277.3(PAH):c.-81C>T rs7954004 0.02852
NM_000277.2(PAH):c.-147C>T rs62517177 0.02849
NM_001875.5(CPS1):c.*829T>C rs79296773 0.02814
NM_001902.6(CTH):c.-140A>T rs17131292 0.02804
NM_000018.4(ACADVL):c.128G>A (p.Gly43Asp) rs2230178 0.02763
NM_000411.8(HLCS):c.-393+11G>T rs557368288 0.02745
NM_000017.4(ACADS):c.*310C>G rs116733542 0.02741
NM_000352.6(ABCC8):c.2277C>T (p.Thr759=) rs1801261 0.02724
NM_000709.4(BCKDHA):c.996-6G>A rs74586298 0.02713
NM_000360.4(TH):c.186G>A (p.Ser62=) rs34510659 0.02696
NM_000108.5(DLD):c.685-14T>A rs80111449 0.02691
NM_014049.5(ACAD9):c.976G>A (p.Ala326Thr) rs115532916 0.02662
NM_001918.5(DBT):c.*344G>T rs58607634 0.02661
NM_001366110.1(PAX4):c.421C>T (p.Arg141Trp) rs2233578 0.02654
NM_003477.3(PDHX):c.641+4T>C rs2767035 0.02645
NM_000365.6(TPI1):c.544-10C>G rs115061797 0.02638
NM_014251.3(SLC25A13):c.1884C>T (p.Asn628=) rs35539807 0.02629
NM_005518.4(HMGCS2):c.*332A>C rs56828380 0.02618
NM_000360.4(TH):c.1401C>T (p.Asp467=) rs3842724 0.02616
NM_000709.4(BCKDHA):c.*309A>G rs10421626 0.02605
NM_058179.4(PSAT1):c.*592A>C rs115361057 0.02603
NM_032383.5(HPS3):c.970+7A>G rs114029765 0.02580
NM_014049.5(ACAD9):c.787T>C (p.Leu263=) rs1979529 0.02566
NM_000429.3(MAT1A):c.-153C>T rs11595587 0.02552
NM_005589.4(ALDH6A1):c.*1032C>T rs146306002 0.02550
NM_000170.3(GLDC):c.666T>C (p.Asp222=) rs12004164 0.02547
NM_001358530.2(MOCS1):c.330C>T (p.Leu110=) rs61746375 0.02544
NM_012463.4(ATP6V0A2):c.2438C>T (p.Ala813Val) rs17883456 0.02527
NM_001080.3(ALDH5A1):c.545C>T (p.Pro182Leu) rs3765310 0.02518
NM_003748.4(ALDH4A1):c.47C>T (p.Pro16Leu) rs146450609 0.02500
NM_175914.5(HNF4A):c.350C>T (p.Thr117Ile) rs1800961 0.02469
NM_000187.4(HGD):c.1191A>C (p.Ala397=) rs137923025 0.02463
NM_003664.5(AP3B1):c.1116G>C (p.Leu372=) rs76433453 0.02452
NM_000290.4(PGAM2):c.341T>G (p.Ile114Ser) rs61756062 0.02444
NM_003477.3(PDHX):c.70C>G (p.Arg24Gly) rs11539201 0.02438
NM_181507.2(HPS5):c.3293C>T (p.Thr1098Ile) rs61884288 0.02435
NM_001080.3(ALDH5A1):c.106G>C (p.Gly36Arg) rs4646832 0.02421
NM_000018.4(ACADVL):c.1038G>A (p.Ala346=) rs8064573 0.02419
NM_001271769.2(AP3B1):c.*588A>G rs114954951 0.02413
NM_001918.5(DBT):c.*8977T>C rs113536022 0.02409
NM_001918.5(DBT):c.*8983dup rs67820832 0.02408
NM_004531.5(MOCS2):c.*566C>T rs41308287 0.02408
NM_000170.3(GLDC):c.-186del rs140030144 0.02402
NM_000081.4(LYST):c.7793T>A (p.Phe2598Tyr) rs34642241 0.02388
NM_014324.6(AMACR):c.*1144A>G rs840380 0.02385
NM_000096.4(CP):c.*1157C>T rs11537809 0.02347
NM_003060.4(SLC22A5):c.1645C>T (p.Pro549Ser) rs11568525 0.02345
NM_000365.6(TPI1):c.631+13G>A rs60115912 0.02344
NM_003060.4(SLC22A5):c.*1179G>T rs79274129 0.02344
NM_003060.4(SLC22A5):c.430C>T (p.Leu144Phe) rs10040427 0.02340
NM_020686.6(ABAT):c.*1501A>G rs17651562 0.02340
NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg) rs79134187 0.02323
NM_012463.4(ATP6V0A2):c.*1600G>A rs58028686 0.02320
NM_000275.3(OCA2):c.*50A>G rs7175266 0.02314
NM_001002755.4(NFU1):c.286C>T (p.Arg96Cys) rs74637005 0.02312
NM_001080.3(ALDH5A1):c.*1407A>G rs73386199 0.02304
NM_001080.3(ALDH5A1):c.*302G>A rs74807590 0.02295
NM_003477.3(PDHX):c.507C>T (p.Ile169=) rs79170416 0.02292
NM_001080.3(ALDH5A1):c.*765G>A rs11558625 0.02287
NM_000182.5(HADHA):c.1392+10G>A rs60085478 0.02277
NM_001358530.2(MOCS1):c.*734C>G rs1063171 0.02273
NM_002150.3(HPD):c.338G>A (p.Arg113Gln) rs11833399 0.02263
NM_001358530.2(MOCS1):c.645+9G>C rs73732319 0.02256
NM_000017.4(ACADS):c.*5G>A rs2229533 0.02244
NM_175914.5(HNF4A):c.*700T>C rs114764820 0.02223
NM_015702.3(MMADHC):c.-49T>C rs79997772 0.02222
NM_000170.3(GLDC):c.671G>A (p.Arg224His) rs28617412 0.02214
NM_032383.5(HPS3):c.-70T>C rs13089410 0.02214
NM_058179.4(PSAT1):c.*252G>C rs17064358 0.02208
NM_002860.4(ALDH18A1):c.1029T>C (p.Ile343=) rs41291566 0.02201
NM_000182.5(HADHA):c.1072C>A (p.Gln358Lys) rs2229420 0.02193
NM_003748.4(ALDH4A1):c.*35C>T rs2230710 0.02193
NM_005327.4(HADH):c.-71C>T rs760202 0.02185
NM_012463.4(ATP6V0A2):c.*2877T>A rs77765053 0.02183
NM_000284.4(PDHA1):c.*392G>A rs56318063 0.02182
NM_012463.4(ATP6V0A2):c.*2357C>T rs117222175 0.02177
NM_005327.4(HADH):c.-193G>A rs10017687 0.02168
NM_000187.4(HGD):c.372C>T (p.Asp124=) rs140977117 0.02164
NM_001701.4(BAAT):c.*1998T>C rs10123365 0.02163
NM_001902.6(CTH):c.*389T>C rs76751106 0.02153
NM_000016.6(ACADM):c.489T>G (p.Pro163=) rs78392995 0.02136
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp) rs11555096 0.02131
NM_183235.3(RAB27A):c.*731G>T rs76097718 0.02129
NM_181507.2(HPS5):c.1785-13C>T rs73430857 0.02128
NM_181507.2(HPS5):c.139T>C (p.Leu47=) rs73432728 0.02127
NM_001701.4(BAAT):c.*1041A>C rs41316534 0.02125
NM_003748.4(ALDH4A1):c.-7A>G rs9426679 0.02115
NM_001358530.2(MOCS1):c.1316G>A (p.Arg439Gln) rs41273142 0.02099
NM_000353.3(TAT):c.*110C>T rs113110476 0.02095
NM_000018.4(ACADVL):c.49C>T (p.Leu17Phe) rs2230179 0.02069
NM_000545.8(HNF1A):c.293C>T (p.Ala98Val) rs1800574 0.02065
NM_001918.5(DBT):c.*4872A>G rs12044663 0.02047
NM_001715.3(BLK):c.258G>A (p.Gln86=) rs56185487 0.02041
NM_054012.4(ASS1):c.688+4T>C rs78432485 0.02036
NM_001352514.2(HLCS):c.*40A>G rs77014096 0.02028
NM_001080.3(ALDH5A1):c.*2985C>T rs114960321 0.02020
NM_175914.5(HNF4A):c.*1832G>A rs4812832 0.02019
NM_012463.4(ATP6V0A2):c.*3235A>G rs7310965 0.02017
NM_001352514.2(HLCS):c.2361C>T (p.Val787=) rs61732507 0.02015
NM_000096.4(CP):c.*137C>T rs34228141 0.02012
NM_001701.4(BAAT):c.*1884G>A rs10120225 0.02003
NM_001358530.2(MOCS1):c.*1909A>G rs73732316 0.02000
NM_000289.6(PFKM):c.1342-14G>T rs56117548 0.01990
NM_053013.4(ENO3):c.-88G>A rs73343373 0.01987
NM_014049.5(ACAD9):c.*68C>T rs116106966 0.01973
NM_000709.4(BCKDHA):c.639C>T (p.Ile213=) rs10404506 0.01970
NM_002300.8(LDHB):c.879A>G (p.Pro293=) rs4828 0.01958
NM_000387.6(SLC25A20):c.*698G>A rs14828 0.01955
NM_000289.6(PFKM):c.306C>T (p.Ala102=) rs11552507 0.01954
NM_001352514.2(HLCS):c.*1484A>G rs78926199 0.01946
NM_001918.5(DBT):c.*470G>A rs148424011 0.01941
NM_001352514.2(HLCS):c.*547C>T rs116526486 0.01940
NM_001032386.2(SUOX):c.-32C>T rs705703 0.01929
NM_005589.4(ALDH6A1):c.*2680A>G rs10139971 0.01924
NM_001875.5(CPS1):c.*754T>G rs73078125 0.01899
NM_014252.4(SLC25A15):c.*898C>T rs12585190 0.01899
NM_000162.5(GCK):c.*797C>T rs2908276 0.01885
NM_001701.4(BAAT):c.911T>C (p.Val304Ala) rs61755096 0.01872
NM_000156.6(GAMT):c.*11C>T rs149268921 0.01866
NM_000071.3(CBS):c.*383C>T rs73372352 0.01854
NM_183050.4(BCKDHB):c.*1158T>G rs74705661 0.01826
NC_000009.12:g.6532460G>C rs73639311 0.01818
NM_000137.4(FAH):c.*88C>T rs113381157 0.01818
NM_003748.4(ALDH4A1):c.744C>T (p.Ile248=) rs60427141 0.01815
NM_183050.4(BCKDHB):c.*726A>G rs147544283 0.01811
NM_000182.5(HADHA):c.1620+11G>C rs112236946 0.01807
NM_181507.2(HPS5):c.*702A>T rs79086536 0.01805
NM_022081.6(HPS4):c.*1227T>C rs7293228 0.01801
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His) rs74922060 0.01800
NM_001875.5(CPS1):c.2448C>T (p.Cys816=) rs75395645 0.01788
NM_001002755.4(NFU1):c.62+9C>T rs114846829 0.01785
NM_003477.3(PDHX):c.531C>T (p.Pro177=) rs76486106 0.01781
NM_001002755.2(NFU1):c.-166T>C rs73934936 0.01772
NM_003748.4(ALDH4A1):c.1583C>A (p.Thr528Asn) rs61757683 0.01760
NM_018368.4(LMBRD1):c.980+11T>C rs114726590 0.01756
NM_005589.4(ALDH6A1):c.*2361G>A rs112689182 0.01755
NM_003477.3(PDHX):c.438C>T (p.Asp146=) rs75182779 0.01749
NM_003477.3(PDHX):c.*123A>G rs59918794 0.01748
NM_003748.4(ALDH4A1):c.603+14G>A rs79637190 0.01743
NM_001370658.1(BTD):c.-94C>T rs114567021 0.01730
NM_005589.4(ALDH6A1):c.*1623C>T rs112962625 0.01722
NM_005589.4(ALDH6A1):c.*1015C>T rs144507608 0.01721
NM_000017.4(ACADS):c.*387A>G rs11065238 0.01712
NM_005589.4(ALDH6A1):c.349-13G>A rs45510700 0.01704
NM_000275.3(OCA2):c.2165T>C (p.Ile722Thr) rs1800417 0.01681
NM_006623.4(PHGDH):c.139-13T>C rs894078 0.01680
NM_175914.5(HNF4A):c.*2533G>A rs76705771 0.01679
NM_001715.3(BLK):c.435C>T (p.Ala145=) rs7836533 0.01672
NM_003124.5(SPR):c.-7C>G rs184034436 0.01663
NM_014251.3(SLC25A13):c.*175A>G rs144877897 0.01662
NM_000352.6(ABCC8):c.-19A>G rs193922394 0.01648
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=) rs61733619 0.01643
NM_183235.3(RAB27A):c.-142-5A>G rs61436564 0.01642
NM_000187.4(HGD):c.1221G>A (p.Ala407=) rs146206905 0.01639
NM_000071.3(CBS):c.*540G>A rs111386779 0.01634
NM_015702.3(MMADHC):c.478+6T>G rs13402787 0.01622
NM_053013.4(ENO3):c.1235+3A>G rs73973669 0.01622
NM_000360.4(TH):c.1035G>T (p.Ala345=) rs11826260 0.01611
NM_000195.5(HPS1):c.1767G>A (p.Ala589=) rs79218830 0.01605
NM_053013.4(ENO3):c.993C>T (p.Ala331=) rs2230257 0.01604
NM_000275.3(OCA2):c.1113C>T (p.Gly371=) rs1800405 0.01593
NM_000277.3(PAH):c.963C>T (p.Leu321=) rs61747292 0.01582
NM_012463.4(ATP6V0A2):c.*1205C>G rs6488903 0.01582
NM_002500.5(NEUROD1):c.590C>A (p.Pro197His) rs8192556 0.01580
NM_000161.3(GCH1):c.*1915T>C rs17128017 0.01571
NM_001358530.2(MOCS1):c.1715G>A (p.Arg572His) rs41273140 0.01571
NM_001080.3(ALDH5A1):c.727-15T>C rs13362724 0.01562
NM_000372.5(TYR):c.114G>A (p.Pro38=) rs1939261 0.01561
NM_000372.5(TYR):c.178C>T (p.Leu60=) rs1939260 0.01556
NM_000048.4(ASL):c.718+14A>T rs117035302 0.01554
NM_003748.4(ALDH4A1):c.*272C>T rs41273171 0.01547
NM_022081.6(HPS4):c.1899C>T (p.Val633=) rs35993959 0.01542
NM_000161.3(GCH1):c.*1463_*1464dup rs55885280 0.01521
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=) rs5216 0.01521
NM_005589.4(ALDH6A1):c.*1181G>A rs150649694 0.01512
NM_003664.5(AP3B1):c.687A>G (p.Leu229=) rs35496909 0.01507
NM_001715.3(BLK):c.211G>A (p.Ala71Thr) rs55758736 0.01485
NM_000017.4(ACADS):c.*500G>A rs639667 0.01483
NM_000290.4(PGAM2):c.216C>T (p.Asp72=) rs111656877 0.01481
NM_020686.6(ABAT):c.*1819G>A rs78819878 0.01479
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_020686.6(ABAT):c.*318T>C rs78352097 0.01478
NM_001875.5(CPS1):c.3355G>A (p.Ala1119Thr) rs76340296 0.01465
NM_000108.5(DLD):c.*855C>T rs116055514 0.01464
NM_001033044.4(GLUL):c.-14+1136G>T rs4110992 0.01462
NM_003664.5(AP3B1):c.339A>C (p.Ala113=) rs7706167 0.01450
NM_183235.3(RAB27A):c.*842G>A rs59982153 0.01444
NM_022081.5(HPS4):c.-660C>T rs34019374 0.01443
NM_001080.3(ALDH5A1):c.726+3G>A rs114082057 0.01442
NM_005589.4(ALDH6A1):c.636G>A (p.Glu212=) rs8008790 0.01439
NM_000275.3(OCA2):c.1844A>G (p.His615Arg) rs1800414 0.01432
NM_000274.4(OAT):c.-53C>T rs117824913 0.01420
NM_002860.4(ALDH18A1):c.1115C>A (p.Ser372Tyr) rs3765571 0.01418
NM_001701.4(BAAT):c.*312A>G rs41281025 0.01409
NM_001033044.4(GLUL):c.*1364G>A rs115448180 0.01401
NM_005271.5(GLUD1):c.342T>C (p.His114=) rs142544510 0.01392
NM_000048.4(ASL):c.1164C>T (p.His388=) rs75300185 0.01380
NM_000352.6(ABCC8):c.1158C>T (p.Asn386=) rs60824529 0.01375
NM_153006.3(NAGS):c.182A>G (p.Glu61Gly) rs113134544 0.01375
NM_014049.5(ACAD9):c.1430G>A (p.Arg477Gln) rs4494951 0.01364
NM_004453.4(ETFDH):c.1690+15C>T rs11931339 0.01356
NM_000096.4(CP):c.*768T>C rs35805816 0.01348
NM_000195.5(HPS1):c.159G>A (p.Pro53=) rs78504928 0.01348
NM_000017.4(ACADS):c.360C>T (p.Asn120=) rs76543640 0.01346
NM_003748.4(ALDH4A1):c.1631C>T (p.Pro544Leu) rs72953172 0.01344
NM_001002755.4(NFU1):c.151G>T (p.Ala51Ser) rs76646410 0.01339
NM_000207.3(INS):c.36G>A (p.Ala12=) rs3842744 0.01335
NM_003748.4(ALDH4A1):c.1162T>C (p.Phe388Leu) rs41273175 0.01334
NM_001033044.4(GLUL):c.*1958G>A rs79056692 0.01333
NM_001033044.4(GLUL):c.*1340C>A rs78220577 0.01330
NM_001033044.4(GLUL):c.*547C>A rs76673199 0.01330
NM_020686.6(ABAT):c.*99G>C rs76717569 0.01330
NM_000170.3(GLDC):c.1815C>T (p.Leu605=) rs74461075 0.01328
NM_000017.4(ACADS):c.*115G>A rs2229534 0.01325
NM_006721.4(ADK):c.727-11T>C rs12778270 0.01325
NM_000458.4(HNF1B):c.*804T>C rs75361710 0.01316
NM_003597.5(KLF11):c.659C>T (p.Thr220Met) rs34336420 0.01310
NM_012463.4(ATP6V0A2):c.1039-14T>C rs115569365 0.01308
NM_000352.6(ABCC8):c.3329+6C>T rs113873225 0.01304
NM_001918.5(DBT):c.*8607G>A rs150241889 0.01296
NM_002108.4(HAL):c.-38C>T rs116011640 0.01294
NM_000525.4(KCNJ11):c.1143G>A (p.Lys381=) rs8175351 0.01289
NM_001875.5(CPS1):c.1068C>G (p.Val356=) rs34022862 0.01287
NM_014251.3(SLC25A13):c.1671C>T (p.Thr557=) rs79886797 0.01284
NM_001875.5(CPS1):c.4126G>A (p.Gly1376Ser) rs140578009 0.01275
NM_000352.6(ABCC8):c.3612C>T (p.Ala1204=) rs149861153 0.01269
NM_000195.5(HPS1):c.-105-9C>T rs2296429 0.01268
NM_004453.3(ETFDH):c.-239G>A rs113981461 0.01253
NM_006623.4(PHGDH):c.318C>T (p.Ala106=) rs115747918 0.01251
NM_002860.4(ALDH18A1):c.*611G>A rs41291562 0.01242
NM_001918.5(DBT):c.*5919A>G rs115442245 0.01236
NM_002150.3(HPD):c.1018G>T (p.Val340Leu) rs36023382 0.01235
NM_000360.4(TH):c.1278G>A (p.Thr426=) rs36097848 0.01234
NM_022081.6(HPS4):c.*1235C>T rs1235169942 0.01229
NM_000687.4(AHCY):c.112C>T (p.Arg38Trp) rs13043752 0.01213
NM_001875.5(CPS1):c.*946C>T rs139770263 0.01212
NM_000071.3(CBS):c.*81G>A rs115406358 0.01211
NM_001352514.2(HLCS):c.*1744G>A rs117270429 0.01206
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=) rs34749281 0.01204
NM_003748.4(ALDH4A1):c.*903C>T rs148846466 0.01203
NM_000365.6(TPI1):c.544-14G>A rs72661109 0.01198
NM_014049.4(ACAD9):c.-168T>C rs183973851 0.01194
NM_001352514.2(HLCS):c.331-7111G>A rs77067023 0.01191
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361 0.01187
NM_012463.4(ATP6V0A2):c.*2646A>G rs77292614 0.01186
NM_000352.6(ABCC8):c.4728C>T (p.Phe1576=) rs73419228 0.01181
NM_000137.4(FAH):c.-34C>T rs142522569 0.01180
NM_001358530.2(MOCS1):c.*1136A>C rs60326448 0.01180
NM_001358530.2(MOCS1):c.*1002C>T rs115706925 0.01175
NM_000081.4(LYST):c.9C>T (p.Thr3=) rs33998267 0.01172
NM_175914.5(HNF4A):c.*155G>A rs41280258 0.01170
NM_012463.4(ATP6V0A2):c.2549A>G (p.Asn850Ser) rs75279884 0.01166
NM_000525.4(KCNJ11):c.*376C>T rs5208 0.01164
NM_014324.6(AMACR):c.*982C>T rs16892066 0.01163
NM_001701.4(BAAT):c.*1029A>T rs74606977 0.01162
NM_000365.6(TPI1):c.*341C>T rs1804544 0.01157
NM_001701.4(BAAT):c.350A>G (p.Lys117Arg) rs115215226 0.01157
NM_183050.4(BCKDHB):c.*440A>T rs113404985 0.01152
NM_032383.5(HPS3):c.*135T>C rs375383865 0.01150
NM_012463.4(ATP6V0A2):c.1606-12G>A rs112415338 0.01148
NM_183235.3(RAB27A):c.*2349A>G rs76970799 0.01147
NM_000550.3(TYRP1):c.1557T>G (p.Tyr519Ter) rs41302073 0.01144
NM_000071.3(CBS):c.304A>C (p.Lys102Gln) rs34040148 0.01138
NM_014252.4(SLC25A15):c.*1945G>A rs114817943 0.01135
NM_000016.6(ACADM):c.900C>T (p.Thr300=) rs17097429 0.01131
NM_175914.5(HNF4A):c.*1975G>A rs140719706 0.01125
NM_001366110.1(PAX4):c.*33A>C rs150578361 0.01119
NM_005589.4(ALDH6A1):c.*2517T>C rs145794069 0.01119
NM_000550.3(TYRP1):c.278G>A (p.Arg93His) rs61752937 0.01118
NM_006623.4(PHGDH):c.792+6T>G rs146953046 0.01118
NM_002108.4(HAL):c.*191C>T rs116122784 0.01115
NM_005327.4(HADH):c.-65G>A rs28703310 0.01115
NM_018368.4(LMBRD1):c.801C>T (p.Arg267=) rs34327883 0.01106
NM_014252.4(SLC25A15):c.*1494A>G rs113342797 0.01105
NM_000429.3(MAT1A):c.*1298G>A rs143751338 0.01100
NM_005566.4(LDHA):c.*582C>T rs144317385 0.01099
NM_000275.3(OCA2):c.1887G>T (p.Val629=) rs1800415 0.01098
NM_175914.5(HNF4A):c.*167T>A rs11574744 0.01097
NM_016180.5(SLC45A2):c.1032+9C>T rs113928135 0.01096
NM_005566.4(LDHA):c.387G>A (p.Pro129=) rs61752915 0.01092
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971 0.01088
NM_001243177.4(ALDOA):c.1200C>T (p.Ser400=) rs77290575 0.01088
NM_012463.4(ATP6V0A2):c.*3654A>G rs77670478 0.01086
NM_002108.4(HAL):c.*914T>C rs57838042 0.01081
NM_012463.4(ATP6V0A2):c.*1731C>T rs114514797 0.01081
NM_012463.4(ATP6V0A2):c.*2329G>A rs113118376 0.01080
NM_001352514.2(HLCS):c.1494C>T (p.Asn498=) rs1065759 0.01068
NM_015702.3(MMADHC):c.412G>A (p.Glu138Lys) rs61746421 0.01067
NM_015702.3(MMADHC):c.428G>T (p.Ser143Ile) rs34886916 0.01066
NM_005518.4(HMGCS2):c.*165C>T rs138575225 0.01059
NM_032383.5(HPS3):c.2215G>A (p.Gly739Arg) rs78336249 0.01058
NM_000360.4(TH):c.1200+9C>T rs11564717 0.01045
NM_014049.5(ACAD9):c.*331T>G rs114763241 0.01039
NM_001033044.4(GLUL):c.825G>A (p.Glu275=) rs35378126 0.01038
NM_006721.4(ADK):c.726+11T>G rs45529443 0.01033
NM_000352.6(ABCC8):c.2538C>T (p.His846=) rs73423037 0.01028
NM_000284.4(PDHA1):c.*1563C>G rs7883708 0.01025
NM_001918.5(DBT):c.1281+6T>G rs140115881 0.01022
NM_014251.3(SLC25A13):c.675G>A (p.Ser225=) rs78247004 0.01022
NM_000187.4(HGD):c.142G>T (p.Ala48Ser) rs138846036 0.01021
NM_003664.5(AP3B1):c.2810-4C>T rs115340604 0.01015
NM_000352.6(ABCC8):c.423G>A (p.Val141=) rs116132921 0.01009
NM_000195.5(HPS1):c.*460C>T rs114794063 0.01003
NM_002108.4(HAL):c.492C>T (p.Tyr164=) rs17024973 0.01000
NM_000284.4(PDHA1):c.*1682T>C rs55744630 0.00998
NM_058179.4(PSAT1):c.*836A>G rs41277905 0.00996
NM_004531.5(MOCS2):c.*2582A>C rs12518145 0.00995
NM_003748.4(ALDH4A1):c.584C>T (p.Thr195Met) rs72936434 0.00992
NM_000525.4(KCNJ11):c.1154C>G (p.Ser385Cys) rs41282930 0.00987
NM_001715.2(BLK):c.-448T>C rs148891021 0.00986
NM_000108.5(DLD):c.*648G>A rs57801571 0.00985
NM_000108.5(DLD):c.249T>C (p.Val83=) rs2228664 0.00985
NM_053013.4(ENO3):c.994G>A (p.Val332Ile) rs61735456 0.00983
NM_005589.4(ALDH6A1):c.*1006C>T rs146605362 0.00981
NM_022081.6(HPS4):c.*1528T>G rs7292764 0.00979
NM_001002755.4(NFU1):c.411T>C (p.Ile137=) rs12474866 0.00978
NM_001080.3(ALDH5A1):c.*784C>T rs115442722 0.00977
NM_015702.3(MMADHC):c.*164A>G rs147662711 0.00973
NM_000170.3(GLDC):c.*257G>A rs111326356 0.00972
NM_024747.6(HPS6):c.1764G>A (p.Gln588=) rs145597717 0.00963
NM_003748.4(ALDH4A1):c.433G>A (p.Ala145Thr) rs113846237 0.00952
NM_000352.6(ABCC8):c.1572G>A (p.Thr524=) rs61748766 0.00948
NM_000108.5(DLD):c.777A>G (p.Lys259=) rs1065762 0.00944
NM_000137.4(FAH):c.483C>T (p.Gly161=) rs116272698 0.00943
NM_000353.3(TAT):c.*1276T>A rs75855289 0.00941
NM_000108.5(DLD):c.*1300A>G rs77095705 0.00939
NM_054012.4(ASS1):c.766G>A (p.Glu256Lys) rs74923032 0.00937
NM_001701.4(BAAT):c.*160T>C rs139712344 0.00931
NM_003477.3(PDHX):c.*114A>G rs76663700 0.00931
NM_012463.4(ATP6V0A2):c.777G>A (p.Arg259=) rs73420336 0.00931
NM_000191.2(HMGCL):c.-59A>C rs188188846 0.00929
NM_000137.4(FAH):c.855G>A (p.Pro285=) rs73481171 0.00927
NM_020686.6(ABAT):c.168+12A>G rs75151311 0.00925
NM_020686.6(ABAT):c.603+3G>A rs41312254 0.00925
NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys) rs2230180 0.00920
NM_000018.4(ACADVL):c.623-8C>T rs144996066 0.00919
NM_000108.5(DLD):c.1422A>C (p.Gly474=) rs34453495 0.00918
NM_003748.4(ALDH4A1):c.*1040C>T rs76525996 0.00915
NM_005589.4(ALDH6A1):c.*980A>G rs148780249 0.00914
NM_001033044.4(GLUL):c.*1411C>T rs1058806 0.00912
NM_001701.4(BAAT):c.*955A>G rs41301517 0.00912
NM_005589.4(ALDH6A1):c.731-12T>C rs10146187 0.00912
NM_000289.6(PFKM):c.*282C>T rs8977 0.00906
NM_181507.2(HPS5):c.-142C>T rs4150528 0.00903
NM_054012.3(ASS1):c.-172C>T rs142263406 0.00899
NM_000709.4(BCKDHA):c.34C>A (p.Arg12=) rs34541442 0.00893
NM_001715.3(BLK):c.177C>G (p.Asp59Glu) rs146083915 0.00891
NM_000187.4(HGD):c.1179T>C (p.Asp393=) rs146482816 0.00886
NM_000195.5(HPS1):c.255+9A>G rs78927693 0.00885
NM_001080.3(ALDH5A1):c.*2597A>G rs150044083 0.00885
NM_022081.6(HPS4):c.*2269A>G rs147989849 0.00883
NM_054012.4(ASS1):c.364-6T>C rs116103138 0.00881
NM_000207.3(INS):c.-9C>T rs5505 0.00878
NM_000275.3(OCA2):c.796C>T (p.Arg266Trp) rs33929465 0.00876
NM_000096.4(CP):c.*509A>C rs13098532 0.00867
NM_022081.6(HPS4):c.1061C>G (p.Ser354Cys) rs116769827 0.00865
NM_001918.5(DBT):c.724T>C (p.Ser242Pro) rs146249007 0.00864
NM_000096.4(CP):c.*879A>C rs144029944 0.00863
NM_001918.5(DBT):c.*8552A>T rs543411196 0.00862
NM_001875.5(CPS1):c.1359+7G>A rs16844647 0.00860
NM_001902.6(CTH):c.129G>A (p.Leu43=) rs61735624 0.00859
NM_001080.3(ALDH5A1):c.*814G>T rs9461036 0.00853
NM_000709.4(BCKDHA):c.*125C>T rs140867211 0.00851
NM_004577.4(PSPH):c.169C>T (p.Pro57Ser) rs79321413 0.00851
NM_012463.4(ATP6V0A2):c.*2875A>C rs149741581 0.00851
NM_022081.6(HPS4):c.*477C>T rs76496430 0.00851
NM_001352514.2(HLCS):c.1412G>A (p.Arg471His) rs61732501 0.00850
NM_004531.5(MOCS2):c.*321A>G rs73756618 0.00849
NM_005271.5(GLUD1):c.*852A>G rs150260124 0.00846
NM_001358530.2(MOCS1):c.*826A>C rs56355907 0.00844
NM_005271.5(GLUD1):c.376G>A (p.Asp126Asn) rs139579928 0.00843
NM_022081.6(HPS4):c.*1207T>C rs534698074 0.00842
NM_001033044.4(GLUL):c.*966A>G rs7543200 0.00834
NM_001080.3(ALDH5A1):c.*1286A>G rs9467217 0.00833
NM_001875.5(CPS1):c.-29T>G rs147937942 0.00830
NM_005589.4(ALDH6A1):c.*2298G>A rs76665287 0.00830
NM_001875.5(CPS1):c.2394C>A (p.Val798=) rs35678745 0.00828
NM_000429.3(MAT1A):c.169+14G>A rs117321518 0.00826
NM_000687.4(AHCY):c.-34C>T rs57344541 0.00825
NM_022081.6(HPS4):c.*1225T>C rs886057311 0.00821
NM_000525.4(KCNJ11):c.*76G>A rs193076739 0.00819
NM_005271.5(GLUD1):c.1470G>A (p.Thr490=) rs141844887 0.00818
NM_005271.5(GLUD1):c.*908T>C rs140942830 0.00817
NM_020166.5(MCCC1):c.1499G>A (p.Arg500Gln) rs78726268 0.00817
NM_000137.4(FAH):c.165C>T (p.Leu55=) rs28733633 0.00811
NM_001902.6(CTH):c.647-15G>C rs140590694 0.00811
NM_000096.4(CP):c.3182-4A>G rs34272112 0.00805
NM_000275.3(OCA2):c.1752C>T (p.His584=) rs151225947 0.00803
NM_000784.3(CYP27A1):c.-370T>C rs182545847 0.00800
NM_000360.4(TH):c.487+3G>A rs11042950 0.00795
NM_032383.5(HPS3):c.*170C>T rs182666670 0.00795
NM_000071.3(CBS):c.*566G>A rs111969522 0.00793
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met) rs34442879 0.00790
NM_000320.3(QDPR):c.96C>T (p.Ala32=) rs2518608 0.00789
NM_003597.5(KLF11):c.*194G>A rs76220150 0.00789
NM_004577.4(PSPH):c.-429G>T rs145447387 0.00789
NM_004577.4(PSPH):c.650T>C (p.Val217Ala) rs73343752 0.00788
NM_000274.4(OAT):c.200-10T>C rs80313473 0.00780
NM_000277.3(PAH):c.1242C>T (p.Tyr414=) rs1801152 0.00779
NM_001918.5(DBT):c.*6901T>A rs200062717 0.00778
NM_000353.3(TAT):c.*813G>C rs182924845 0.00777
NM_000191.3(HMGCL):c.48G>A (p.Ala16=) rs115611440 0.00769
NM_001352514.2(HLCS):c.*2624G>A rs73210780 0.00769
NM_022081.6(HPS4):c.-554C>T rs115916720 0.00769
NM_012463.4(ATP6V0A2):c.*1645G>A rs74994957 0.00766
NM_001080.3(ALDH5A1):c.10T>G (p.Cys4Gly) rs200793796 0.00760
NM_002300.8(LDHB):c.421+13A>G rs76163762 0.00759
NM_000275.3(OCA2):c.1007C>T (p.Ala336Val) rs34010619 0.00755
NM_175914.5(HNF4A):c.*521G>A rs111466682 0.00755
NM_004577.4(PSPH):c.*8T>C rs140998795 0.00754
NM_012463.4(ATP6V0A2):c.*1064G>A rs7980215 0.00751
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn) rs61750442 0.00751
NM_000709.4(BCKDHA):c.995+9C>T rs13343330 0.00750
NM_012463.4(ATP6V0A2):c.*1837T>C rs115183932 0.00749
NM_020166.5(MCCC1):c.-24A>G rs11540930 0.00749
NM_012463.4(ATP6V0A2):c.*3357G>C rs7297473 0.00748
NM_003664.5(AP3B1):c.2324T>A (p.Ile775Lys) rs62001050 0.00745
NM_001715.3(BLK):c.102C>T (p.Asp34=) rs75383960 0.00743
NM_012463.4(ATP6V0A2):c.*2710G>A rs145999411 0.00742
NM_001358530.2(MOCS1):c.*578C>T rs147395035 0.00739
NM_002500.5(NEUROD1):c.-65C>T rs8192555 0.00739
NM_183235.3(RAB27A):c.*2160A>G rs62020099 0.00739
NM_000481.4(AMT):c.631G>A (p.Glu211Lys) rs116192290 0.00735
NM_054012.4(ASS1):c.675C>T (p.Ile225=) rs58233547 0.00735
NM_000372.5(TYR):c.835T>C (p.Leu279=) rs4987234 0.00733
NM_003597.5(KLF11):c.*235T>C rs150051327 0.00733
NM_003124.5(SPR):c.*432G>A rs61518691 0.00729
NM_000170.3(GLDC):c.2380G>A (p.Ala794Thr) rs141933811 0.00728
NM_181507.1(HPS5):c.-250G>T rs4150529 0.00728
NM_012463.4(ATP6V0A2):c.2054G>A (p.Arg685Gln) rs7969410 0.00727
NM_001918.5(DBT):c.*7358C>T rs143822588 0.00725
NM_022081.6(HPS4):c.*1223T>C rs1367343497 0.00724
NM_003748.4(ALDH4A1):c.*1173C>T rs115664776 0.00723
NM_000531.6(OTC):c.751T>C (p.Leu251=) rs36005267 0.00722
NM_058179.4(PSAT1):c.*251C>T rs76966550 0.00717
NM_020686.6(ABAT):c.1269+4A>C rs183947905 0.00716
NM_058179.4(PSAT1):c.*664A>G rs41277903 0.00716
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu) rs2229137 0.00715
NM_001918.5(DBT):c.*8944A>G rs77587629 0.00713
NM_020686.6(ABAT):c.*31C>T rs147333757 0.00712
NM_181507.2(HPS5):c.2441-8T>C rs144196437 0.00708
NM_000170.3(GLDC):c.319A>G (p.Met107Val) rs138454333 0.00707
NM_000360.4(TH):c.684G>A (p.Glu228=) rs11564716 0.00706
NM_175914.5(HNF4A):c.*3086C>T rs551080524 0.00706
NM_001080.3(ALDH5A1):c.*1239T>G rs191960134 0.00705
NM_001080.3(ALDH5A1):c.1389T>C (p.Asp463=) rs58747567 0.00705
NM_020686.6(ABAT):c.*1202G>A rs75730008 0.00704
NM_003060.4(SLC22A5):c.-118G>A rs538643468 0.00702
NM_022081.6(HPS4):c.751A>T (p.Thr251Ser) rs34962745 0.00699
NM_000071.3(CBS):c.829-12C>T rs75616587 0.00698
NM_183235.3(RAB27A):c.*387A>G rs73407873 0.00697
NM_001902.6(CTH):c.200C>T (p.Thr67Ile) rs28941785 0.00693
NM_001080.3(ALDH5A1):c.*1877A>G rs41271787 0.00686
NM_000525.4(KCNJ11):c.*766G>A rs193101892 0.00683
NM_000162.5(GCK):c.645C>T (p.Tyr215=) rs144723656 0.00682
NM_022081.6(HPS4):c.*1762G>A rs139974836 0.00680
NM_003597.5(KLF11):c.429C>T (p.Ala143=) rs113903638 0.00679
NM_001358530.2(MOCS1):c.*1405G>C rs3749998 0.00676
NM_004531.5(MOCS2):c.*1913G>A rs193054707 0.00676
NM_000784.4(CYP27A1):c.-6C>T rs199891090 0.00673
NM_001358530.2(MOCS1):c.*1113T>G rs3828937 0.00672
NM_012463.4(ATP6V0A2):c.1872G>A (p.Leu624=) rs73420342 0.00672
NM_000170.3(GLDC):c.52G>T (p.Gly18Cys) rs535143891 0.00670
NM_002150.3(HPD):c.345C>T (p.Ala115=) rs59741465 0.00670
NM_001370658.1(BTD):c.585C>T (p.Leu195=) rs145388314 0.00669
NM_003664.5(AP3B1):c.*379A>G rs115124715 0.00669
NM_003664.5(AP3B1):c.2661C>A (p.Phe887Leu) rs139344924 0.00669
NM_000108.5(DLD):c.34G>A (p.Ala12Thr) rs75077312 0.00666
NM_000274.4(OAT):c.-30+8C>T rs552799531 0.00661
NM_001715.2(BLK):c.-530G>A rs115316286 0.00661
NM_001358530.2(MOCS1):c.*1911C>A rs188855912 0.00654
NM_000016.6(ACADM):c.*77C>T rs143911981 0.00652
NM_001715.3(BLK):c.472+12G>A rs145058498 0.00652
NM_005589.4(ALDH6A1):c.*1514A>G rs115564279 0.00652
NM_012463.4(ATP6V0A2):c.117+14G>A rs144930749 0.00652
NM_000137.4(FAH):c.139A>G (p.Lys47Glu) rs34749737 0.00650
NM_000170.3(GLDC):c.2203G>T (p.Val735Leu) rs143119940 0.00650
NM_000550.3(TYRP1):c.*229C>G rs116149666 0.00650
NM_000550.3(TYRP1):c.1082-8G>A rs79992094 0.00650
NM_000550.3(TYRP1):c.1500G>A (p.Leu500=) rs34060600 0.00644
NM_001352514.2(HLCS):c.1969G>A (p.Gly657Arg) rs75867009 0.00642
NM_000925.3(PDHB):c.-26G>A rs201243189 0.00640
NM_000108.5(DLD):c.*1145A>T rs143750422 0.00638
NM_001080.3(ALDH5A1):c.*1473G>A rs75854500 0.00638
NM_000298.6(PKLR):c.*893T>G rs41264939 0.00637
NM_000456.2(SUOX):c.-326A>T rs143315090 0.00634
NM_001033044.4(GLUL):c.*1762A>G rs138138013 0.00633
NM_003060.4(SLC22A5):c.*959A>C rs14701 0.00632
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330 0.00630
NM_012463.4(ATP6V0A2):c.*191T>C rs150408179 0.00628
NM_000525.4(KCNJ11):c.*92C>T rs5212 0.00626
NM_001002755.4(NFU1):c.-6A>G rs116604978 0.00625
NM_002150.3(HPD):c.15T>G (p.Ser5Arg) rs35849100 0.00625
NM_001875.5(CPS1):c.*314T>A rs115293884 0.00624
NM_014252.4(SLC25A15):c.-67A>T rs112276566 0.00623
NM_006623.4(PHGDH):c.595C>G (p.Leu199Val) rs77632964 0.00622
NM_012463.4(ATP6V0A2):c.*3000G>A rs183891010 0.00622
NM_001875.5(CPS1):c.4260C>G (p.Leu1420=) rs138395129 0.00621
NM_000071.3(CBS):c.1145+7C>T rs201158177 0.00620
NM_000170.3(GLDC):c.2919+3A>G rs73639325 0.00620
NM_001875.5(CPS1):c.449G>A (p.Gly150Glu) rs114819130 0.00617
NM_003597.5(KLF11):c.*107G>A rs140559044 0.00616
NM_012463.4(ATP6V0A2):c.*3665T>G rs2651 0.00616
NM_000071.3(CBS):c.573G>A (p.Thr191=) rs73906420 0.00615
NM_000081.4(LYST):c.10941-7C>A rs72761794 0.00614
NM_015702.3(MMADHC):c.473G>A (p.Arg158Gln) rs114276563 0.00611
NM_014251.3(SLC25A13):c.1374G>A (p.Val458=) rs115266882 0.00605
NM_001918.5(DBT):c.*4094C>A rs74825164 0.00603
NM_001032386.2(SUOX):c.-107C>T rs114410290 0.00602
NM_175914.5(HNF4A):c.393T>C (p.Asn131=) rs113308087 0.00598
NM_000195.5(HPS1):c.1698G>A (p.Ser566=) rs148450315 0.00596
NM_054012.4(ASS1):c.106-10T>G rs73541957 0.00593
NM_024747.6(HPS6):c.698T>G (p.Leu233Arg) rs36078476 0.00592
NM_000525.4(KCNJ11):c.*288G>A rs5209 0.00590
NM_004453.4(ETFDH):c.1468+15A>C rs146561214 0.00590
NM_032383.5(HPS3):c.823G>A (p.Glu275Lys) rs34388030 0.00590
NM_001080.3(ALDH5A1):c.*2219T>C rs150916849 0.00589
NM_000525.4(KCNJ11):c.*487A>G rs79457490 0.00588
NM_001352514.2(HLCS):c.726C>T (p.Pro242=) rs2230182 0.00587
NM_000387.6(SLC25A20):c.*782T>C rs76087816 0.00584
NM_003597.5(KLF11):c.*981G>A rs148235172 0.00584
NM_003597.5(KLF11):c.-76G>A rs1038766626 0.00583
NM_018368.4(LMBRD1):c.*395T>C rs80330045 0.00583
NM_000081.4(LYST):c.7059+7G>A rs111764031 0.00582
NM_000081.4(LYST):c.6812A>G (p.Asp2271Gly) rs112601869 0.00580
NM_000161.3(GCH1):c.-69G>C rs533157442 0.00580
NM_000170.3(GLDC):c.871T>G (p.Cys291Gly) rs141014950 0.00580
NM_003477.3(PDHX):c.976G>C (p.Val326Leu) rs35560997 0.00574
NM_005589.4(ALDH6A1):c.*2157C>T rs116025535 0.00573
NM_002860.4(ALDH18A1):c.*140C>T rs76824727 0.00570
NM_000108.5(DLD):c.*887T>C rs16872396 0.00569
NM_003597.5(KLF11):c.*882G>A rs183240123 0.00564
NM_000178.4(GSS):c.*90A>G rs35747685 0.00563
NM_000018.4(ACADVL):c.636C>T (p.Ala212=) rs76547988 0.00560
NM_000081.4(LYST):c.8898T>C (p.Tyr2966=) rs144475533 0.00560
NM_000096.4(CP):c.*474T>C rs34936395 0.00559
NM_000784.4(CYP27A1):c.921G>A (p.Val307=) rs147975335 0.00559
NM_014252.4(SLC25A15):c.*58G>T rs17090557 0.00553
NM_004453.4(ETFDH):c.1533T>C (p.Asp511=) rs77484245 0.00552
NM_002860.4(ALDH18A1):c.*56T>A rs114393346 0.00549
NM_000360.4(TH):c.579C>T (p.Gly193=) rs147852210 0.00547
NM_001875.5(CPS1):c.3029C>T (p.Thr1010Met) rs79627159 0.00546
NM_005518.4(HMGCS2):c.858C>T (p.Ser286=) rs1992376 0.00546
NM_000018.3(ACADVL):c.-64T>C rs77051465 0.00545
NM_000182.5(HADHA):c.*561C>T rs115151034 0.00544
NM_003477.3(PDHX):c.1331G>A (p.Arg444Lys) rs34398018 0.00536
NM_003124.5(SPR):c.112G>A (p.Val38Ile) rs146099322 0.00535
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg) rs61738394 0.00532
NM_000108.5(DLD):c.*1074C>G rs149275540 0.00531
NM_000187.4(HGD):c.283-4C>T rs7652072 0.00530
NM_000191.3(HMGCL):c.*194C>G rs192071003 0.00530
NM_000290.4(PGAM2):c.366G>A (p.Pro122=) rs143830182 0.00529
NM_005518.4(HMGCS2):c.*822G>A rs116264779 0.00529
NM_000429.3(MAT1A):c.*275C>T rs76913733 0.00528
NM_000458.3(HNF1B):c.-178G>A rs148442901 0.00528
NM_003664.5(AP3B1):c.1317T>G (p.Thr439=) rs75248449 0.00528
NM_004577.4(PSPH):c.-442A>G rs184427284 0.00526
NM_001352514.2(HLCS):c.331-7157C>T rs149104163 0.00524
NM_000195.5(HPS1):c.*916G>A rs114082441 0.00522
NM_000137.4(FAH):c.315-14G>A rs139830755 0.00521
NM_003664.5(AP3B1):c.2995G>A (p.Val999Met) rs146503597 0.00517
NM_000126.4(ETFA):c.-71T>C rs116149551 0.00516
NM_003748.4(ALDH4A1):c.678+3G>A rs138788183 0.00516
NM_005327.7(HADH):c.275T>G (p.Phe92Cys) rs61735992 0.00516
NM_181507.2(HPS5):c.-91C>G rs4150527 0.00513
NM_181507.2(HPS5):c.3045G>A (p.Met1015Ile) rs61755718 0.00512
NM_183235.3(RAB27A):c.*132G>A rs77014779 0.00511
NM_000525.4(KCNJ11):c.*529G>A rs115826080 0.00510
NM_000429.3(MAT1A):c.1005C>T (p.Tyr335=) rs61734474 0.00509
NM_000525.4(KCNJ11):c.108G>A (p.Val36=) rs112070496 0.00509
NM_003664.5(AP3B1):c.2585C>T (p.Thr862Ile) rs146624866 0.00508
NM_004531.5(MOCS2):c.*2651G>T rs150871292 0.00506
NM_001715.3(BLK):c.-165G>T rs139110057 0.00505
NM_000365.6(TPI1):c.*39G>A rs12692 0.00504
NM_005589.4(ALDH6A1):c.*1904G>C rs147392789 0.00503
NM_000182.5(HADHA):c.*331T>C rs189483687 0.00500
NM_001701.4(BAAT):c.*895C>T rs16936057 0.00500
NM_000784.4(CYP27A1):c.524C>T (p.Thr175Met) rs2229381 0.00498
NM_001366110.1(PAX4):c.646-7C>T rs11977988 0.00498
NM_032383.5(HPS3):c.1366A>G (p.Ile456Val) rs149640235 0.00498
NM_000352.6(ABCC8):c.4542C>A (p.Ala1514=) rs113282901 0.00497
NM_000458.4(HNF1B):c.-67C>T rs140699244 0.00491
NM_001701.4(BAAT):c.*459G>A rs41281023 0.00491
NM_004577.3(PSPH):c.-720G>T rs190794562 0.00491
NM_000274.4(OAT):c.-38C>T rs9422945 0.00489
NM_003748.4(ALDH4A1):c.1218C>T (p.His406=) rs111291014 0.00488
NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala) rs115330112 0.00485
NM_001875.5(CPS1):c.-128G>A rs182021022 0.00484
NM_020686.6(ABAT):c.*2884T>C rs10261 0.00480
NM_153006.3(NAGS):c.284C>T (p.Pro95Leu) rs200607114 0.00480
NM_000071.3(CBS):c.531+11G>A rs186114513 0.00479
NM_000108.5(DLD):c.*474T>C rs16872391 0.00479
NM_002150.3(HPD):c.414G>A (p.Thr138=) rs140788110 0.00479
NM_005589.4(ALDH6A1):c.1455C>T (p.Thr485=) rs147004133 0.00477
NM_000081.4(LYST):c.-5C>T rs141317482 0.00475
NM_183235.3(RAB27A):c.*472A>C rs116723038 0.00475
NM_002860.4(ALDH18A1):c.2207-3C>T rs149309642 0.00472
NM_006721.4(ADK):c.987T>C (p.Ser329=) rs116653664 0.00468
NM_054012.3(ASS1):c.-175G>A rs569832736 0.00465
NM_000170.3(GLDC):c.1707+8G>A rs144666843 0.00464
NM_000360.4(TH):c.16G>A (p.Ala6Thr) rs74555599 0.00462
NM_020686.6(ABAT):c.*1075C>T rs117516993 0.00462
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952 0.00461
NM_022081.6(HPS4):c.*1850G>A rs143168600 0.00456
NM_020166.5(MCCC1):c.-25C>A rs149741951 0.00453
NM_000365.6(TPI1):c.600G>A (p.Ala200=) rs61747602 0.00452
NM_000162.5(GCK):c.339C>T (p.Asp113=) rs149412035 0.00451
NM_000182.5(HADHA):c.1981C>T (p.Leu661=) rs142348718 0.00450
NM_001482.3(GATM):c.*847G>A rs1145087 0.00446
NM_000178.4(GSS):c.-63G>C rs192442930 0.00445
NM_000550.3(TYRP1):c.*509C>A rs74941076 0.00443
NM_000081.4(LYST):c.10800+4G>T rs41308172 0.00441
NM_002500.5(NEUROD1):c.-60G>A rs189844846 0.00441
NM_175914.5(HNF4A):c.*2786C>T rs113417800 0.00435
NM_000284.4(PDHA1):c.*1869G>C rs15943 0.00434
NM_000352.6(ABCC8):c.354C>T (p.Val118=) rs137873871 0.00434
NM_000353.3(TAT):c.*852G>A rs191942931 0.00427
NM_000195.5(HPS1):c.27G>C (p.Glu9Asp) rs7914192 0.00426
NM_000352.4(ABCC8):c.-72G>A rs541244107 0.00426
NM_001366110.1(PAX4):c.*190C>T rs2233585 0.00426
NM_175914.5(HNF4A):c.669A>G (p.Leu223=) rs139591750 0.00425
NM_001875.5(CPS1):c.3481-8C>T rs41272669 0.00424
NM_002500.5(NEUROD1):c.*719G>A rs184299700 0.00423
NM_183235.3(RAB27A):c.*1013T>C rs190724892 0.00420
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr) rs151268759 0.00419
NM_000360.4(TH):c.*277G>A rs3842725 0.00418
NM_012463.4(ATP6V0A2):c.*2876A>T rs191476665 0.00418
NM_003748.4(ALDH4A1):c.648C>T (p.Gly216=) rs139340058 0.00417
NM_181507.2(HPS5):c.1501G>A (p.Gly501Arg) rs143784823 0.00417
NM_000081.4(LYST):c.6482A>C (p.Glu2161Ala) rs147756847 0.00416
NM_000187.4(HGD):c.260A>C (p.Glu87Ala) rs35702995 0.00416
NM_001715.3(BLK):c.753A>G (p.Gln251=) rs76563369 0.00416
NM_000096.4(CP):c.*259C>T rs192321084 0.00414
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) rs8177988 0.00414
NM_000182.5(HADHA):c.1690-6G>A rs111662358 0.00412
NM_001875.5(CPS1):c.3687G>T (p.Lys1229Asn) rs115897023 0.00412
NM_004577.4(PSPH):c.-456T>C rs190216482 0.00411
NM_022081.6(HPS4):c.710C>T (p.Ala237Val) rs77597168 0.00411
NM_000687.4(AHCY):c.28+7C>T rs201479827 0.00410
NM_001715.2(BLK):c.-441C>A rs142686759 0.00409
NM_020686.6(ABAT):c.1452C>T (p.His484=) rs61730647 0.00407
NM_000687.4(AHCY):c.367G>A (p.Gly123Arg) rs41301825 0.00406
NM_000170.3(GLDC):c.2113G>A (p.Val705Met) rs147275962 0.00405
NM_183235.3(RAB27A):c.*1863C>T rs566144766 0.00405
NM_000182.5(HADHA):c.68-10T>G rs144414842 0.00403
NM_001366110.1(PAX4):c.*287C>T rs12669223 0.00402
NM_001902.6(CTH):c.*546G>A rs190637978 0.00402
NM_003748.4(ALDH4A1):c.*1197C>G rs7419135 0.00402
NM_000429.3(MAT1A):c.1085+15G>A rs147182952 0.00401
NM_012463.4(ATP6V0A2):c.*998T>C rs12298446 0.00401
NM_000162.5(GCK):c.618G>A (p.Thr206=) rs142817246 0.00400
NM_001033044.4(GLUL):c.*1276C>T rs143904819 0.00400
NM_001918.5(DBT):c.*3652G>C rs755229964 0.00400
NM_003664.5(AP3B1):c.2042A>G (p.Glu681Gly) rs113301033 0.00400
NM_001352514.2(HLCS):c.*1725A>G rs73398120 0.00399
NM_001715.3(BLK):c.*338T>G rs1042695 0.00399
NM_004531.5(MOCS2):c.367C>T (p.His123Tyr) rs2233218 0.00399
NM_003664.5(AP3B1):c.2880C>T (p.Ala960=) rs62001052 0.00398
NM_000481.4(AMT):c.898A>G (p.Met300Val) rs144971200 0.00397
NM_002108.4(HAL):c.*555G>A rs137976982 0.00396
NM_000275.3(OCA2):c.1679G>A (p.Arg560His) rs35110389 0.00395
NM_001701.4(BAAT):c.951G>A (p.Gln317=) rs61756326 0.00395
NM_000081.4(LYST):c.1686G>C (p.Gln562His) rs77091385 0.00394
NM_001032386.2(SUOX):c.1358G>A (p.Gly453Asp) rs76537761 0.00392
NM_001352514.2(HLCS):c.2362G>A (p.Val788Met) rs150665851 0.00392
NM_000018.4(ACADVL):c.308A>G (p.Lys103Arg) rs140566084 0.00391
NM_000525.4(KCNJ11):c.*1168G>A rs182349583 0.00391
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu) rs41298432 0.00389
NM_000162.5(GCK):c.*92C>A rs557990162 0.00389
NM_183235.3(RAB27A):c.*1878T>C rs552625680 0.00389
NM_000429.3(MAT1A):c.*610G>C rs77083841 0.00388
NM_001033044.4(GLUL):c.*1772C>G rs148906736 0.00388
NM_000353.3(TAT):c.*409G>A rs572677025 0.00387
NM_001352514.2(HLCS):c.*3247A>G rs114061673 0.00386
NM_001370658.1(BTD):c.*211G>A rs78601074 0.00384
NM_018368.4(LMBRD1):c.-18T>A rs202192515 0.00384
NM_022081.6(HPS4):c.*1237C>T rs886057305 0.00384
NM_175914.5(HNF4A):c.1137C>T (p.Asn379=) rs61737145 0.00384
NM_000550.3(TYRP1):c.977G>A (p.Arg326His) rs16929374 0.00383
NM_003748.4(ALDH4A1):c.*122T>C rs2230712 0.00383
NM_000290.4(PGAM2):c.375G>A (p.Pro125=) rs145985559 0.00382
NM_000352.6(ABCC8):c.2958G>A (p.Ser986=) rs58820146 0.00381
NM_003124.5(SPR):c.785A>G (p.Ter262=) rs145082655 0.00380
NM_000284.4(PDHA1):c.831+15C>T rs190157093 0.00379
NM_000387.6(SLC25A20):c.*359C>T rs116681393 0.00379
NM_000017.4(ACADS):c.*200C>T rs137990231 0.00378
NM_001358530.2(MOCS1):c.*120C>T rs188611081 0.00377
NM_000048.4(ASL):c.*218C>T rs115226772 0.00375
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_183235.3(RAB27A):c.594G>A (p.Val198=) rs141222527 0.00374
NM_003597.5(KLF11):c.*262C>T rs147746428 0.00373
NM_006623.4(PHGDH):c.*151C>G rs112584109 0.00373
NM_000275.3(OCA2):c.1109T>C (p.Ile370Thr) rs34731820 0.00369
NM_004453.4(ETFDH):c.684+13A>C rs149407913 0.00366
NM_000709.4(BCKDHA):c.975C>T (p.Leu325=) rs55940366 0.00365
NM_175914.5(HNF4A):c.696C>T (p.His232=) rs150078978 0.00365
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_000156.6(GAMT):c.*89C>A rs558767159 0.00362
NM_000275.3(OCA2):c.126C>T (p.Ala42=) rs141135991 0.00362
NM_000360.4(TH):c.267G>A (p.Arg89=) rs76240471 0.00359
NM_005327.7(HADH):c.662G>A (p.Arg221His) rs76476980 0.00358
NM_000784.3(CYP27A1):c.-205C>A rs187723732 0.00357
NM_001358530.2(MOCS1):c.*990T>C rs192141515 0.00355
NM_004453.4(ETFDH):c.381C>T (p.Leu127=) rs149278633 0.00355
NM_005327.4(HADH):c.-102G>A rs182097151 0.00354
NM_005589.4(ALDH6A1):c.414A>G (p.Val138=) rs4899491 0.00354
NM_000195.5(HPS1):c.*12C>T rs112544050 0.00352
NM_000525.4(KCNJ11):c.-498T>C rs529946415 0.00352
NM_001352514.2(HLCS):c.1002C>T (p.Ala334=) rs116114362 0.00352
NM_001032386.2(SUOX):c.629C>T (p.Pro210Leu) rs141735896 0.00351
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_004531.5(MOCS2):c.*1658G>A rs12152954 0.00350
NM_001080.3(ALDH5A1):c.961G>A (p.Val321Met) rs115784602 0.00349
NM_004531.5(MOCS2):c.104A>G (p.Asp35Gly) rs73094933 0.00349
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_000195.5(HPS1):c.*252C>T rs552596275 0.00346
NM_000156.6(GAMT):c.79T>C (p.Tyr27His) rs200833152 0.00345
NM_000289.6(PFKM):c.*411G>A rs79507126 0.00345
NM_001002755.2(NFU1):c.-119G>A rs372505661 0.00341
NM_001918.5(DBT):c.506G>A (p.Arg169Gln) rs34267966 0.00341
NM_018368.4(LMBRD1):c.18G>C (p.Ala6=) rs149650795 0.00341
NM_000429.3(MAT1A):c.*542C>T rs34493502 0.00339
NM_000170.3(GLDC):c.678C>T (p.His226=) rs12006003 0.00338
NM_001918.5(DBT):c.*2810A>G rs116578353 0.00337
NM_001918.5(DBT):c.*5347C>T rs116806523 0.00337
NM_175914.5(HNF4A):c.*1127T>C rs757386171 0.00337
NM_175914.5(HNF4A):c.*2656G>A rs146992858 0.00337
NM_005271.5(GLUD1):c.*972G>A rs12980 0.00335
NM_020686.6(ABAT):c.816+7C>A rs376046736 0.00332
NM_001033044.4(GLUL):c.603+5G>A rs140378060 0.00329
NM_002860.4(ALDH18A1):c.*292C>T rs78053774 0.00329
NM_000481.4(AMT):c.-1G>A rs143841175 0.00328
NM_000545.8(HNF1A):c.*214G>A rs191295371 0.00327
NM_000687.4(AHCY):c.274A>G (p.Ile92Val) rs11552695 0.00327
NM_001918.5(DBT):c.*4124C>A rs139169068 0.00327
NM_002860.4(ALDH18A1):c.2001G>A (p.Glu667=) rs78731297 0.00326
NM_003060.4(SLC22A5):c.*1062G>A rs138469584 0.00325
NM_000525.4(KCNJ11):c.*686A>G rs147282653 0.00324
NM_001701.4(BAAT):c.409G>A (p.Val137Ile) rs144591246 0.00322
NM_212550.5(BLOC1S3):c.*155_*156insAA rs570559399 0.00320
NM_003748.4(ALDH4A1):c.*711C>G rs543972561 0.00319
NM_001080.3(ALDH5A1):c.*1883C>T rs139473699 0.00318
NM_020686.6(ABAT):c.366+11G>T rs141893184 0.00318
NM_000081.4(LYST):c.6292G>A (p.Ala2098Thr) rs146091043 0.00315
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys) rs149736764 0.00315
NM_002500.5(NEUROD1):c.*78C>T rs41270211 0.00315
NM_012463.4(ATP6V0A2):c.-117C>T rs532360215 0.00315
NM_024747.6(HPS6):c.398C>T (p.Ala133Val) rs199816481 0.00315
NM_002108.4(HAL):c.715+9A>G rs151109430 0.00314
NM_001715.2(BLK):c.-304C>G rs151046937 0.00312
NM_000126.4(ETFA):c.562+11A>T rs143834701 0.00311
NM_003597.5(KLF11):c.*241A>G rs191010106 0.00309
NM_181507.2(HPS5):c.345G>A (p.Met115Ile) rs149229493 0.00309
NM_000187.3(HGD):c.-207G>A rs147272996 0.00306
NM_000195.5(HPS1):c.*736C>T rs149708847 0.00306
NM_022081.6(HPS4):c.250A>G (p.Ile84Val) rs149830675 0.00306
NM_001033044.4(GLUL):c.*1594_*1595del rs367629181 0.00305
NM_003597.5(KLF11):c.*980T>C rs113527829 0.00303
NM_000187.4(HGD):c.711C>A (p.Arg237=) rs147204182 0.00302
NM_000275.3(OCA2):c.1744C>T (p.Leu582=) rs61751032 0.00302
NM_001715.3(BLK):c.187G>A (p.Val63Met) rs138972988 0.00302
NM_001875.5(CPS1):c.*849A>G rs150782174 0.00302
NM_000016.6(ACADM):c.*826T>C rs200617844 0.00301
NM_003748.4(ALDH4A1):c.1185+10G>A rs201079601 0.00301
NM_001715.3(BLK):c.713G>A (p.Arg238Gln) rs141865425 0.00300
NM_032383.5(HPS3):c.2055G>A (p.Leu685=) rs140443498 0.00300
NM_000481.4(AMT):c.1145G>A (p.Arg382Gln) rs141246107 0.00299
NM_003477.3(PDHX):c.*27A>C rs74524673 0.00299
NM_005518.4(HMGCS2):c.-11C>T rs2289459 0.00299
NM_014251.3(SLC25A13):c.*570G>A rs147716687 0.00299
NM_000709.4(BCKDHA):c.484+5G>A rs149899007 0.00298
NM_000195.5(HPS1):c.1683C>T (p.Cys561=) rs112337765 0.00297
NM_001033044.4(GLUL):c.-14+905T>C rs78752021 0.00297
NM_181507.2(HPS5):c.2537C>T (p.Pro846Leu) rs144875223 0.00297
NM_000162.5(GCK):c.46-12C>T rs142829768 0.00296
NM_020686.6(ABAT):c.*32G>A rs737696 0.00296
NM_001875.5(CPS1):c.486T>C (p.Tyr162=) rs138779023 0.00295
NM_003664.5(AP3B1):c.2613C>T (p.His871=) rs144420604 0.00295
NM_001032386.2(SUOX):c.-11+1604T>G rs534066397 0.00293
NM_000178.4(GSS):c.941C>T (p.Pro314Leu) rs75863437 0.00292
NM_014252.4(SLC25A15):c.182G>A (p.Arg61His) rs34615430 0.00292
NM_000525.4(KCNJ11):c.*848A>G rs5206 0.00291
NM_000195.5(HPS1):c.478C>T (p.Arg160Trp) rs142893758 0.00290
NM_000298.6(PKLR):c.181C>T (p.Leu61=) rs8177962 0.00289
NM_001875.5(CPS1):c.529-4A>T rs191182348 0.00289
NM_014252.4(SLC25A15):c.*2040G>A rs41286983 0.00287
NM_020686.6(ABAT):c.55C>T (p.Arg19Cys) rs77696190 0.00287
NM_001902.6(CTH):c.346+7G>A rs186217898 0.00285
NM_000352.6(ABCC8):c.1926C>G (p.Pro642=) rs75376282 0.00284
NM_000429.3(MAT1A):c.*1268T>C rs146819443 0.00284
NM_015702.3(MMADHC):c.-8C>T rs180812156 0.00282
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val) rs150140386 0.00280
NM_002108.4(HAL):c.*756C>T rs115037995 0.00280
NM_000170.3(GLDC):c.2053-5C>G rs140877566 0.00278
NM_000081.4(LYST):c.1384C>T (p.Pro462Ser) rs77848653 0.00276
NM_000081.4(LYST):c.8913T>G (p.Asn2971Lys) rs34702903 0.00276
NM_000170.3(GLDC):c.*115A>T rs148273307 0.00276
NM_006721.4(ADK):c.*740C>T rs150465356 0.00276
NM_181507.2(HPS5):c.1609G>T (p.Val537Leu) rs149677540 0.00276
NM_000182.5(HADHA):c.-25C>G rs184300489 0.00274
NM_001243177.4(ALDOA):c.*136C>T rs191226606 0.00274
NM_002108.4(HAL):c.1106G>A (p.Arg369Gln) rs117991621 0.00273
NM_000277.3(PAH):c.772C>T (p.Leu258=) rs75065106 0.00272
NM_000352.6(ABCC8):c.-8G>T rs200091822 0.00270
NM_000429.3(MAT1A):c.*19C>A rs199546548 0.00270
NM_001352514.2(HLCS):c.*3159_*3162del rs535525635 0.00270
NM_001358530.2(MOCS1):c.*1424C>G rs151159237 0.00270
NM_000298.6(PKLR):c.829G>A (p.Glu277Lys) rs147689373 0.00269
NM_000545.8(HNF1A):c.276C>T (p.Leu92=) rs34056805 0.00269
NM_175914.5(HNF4A):c.*393G>A rs190373692 0.00267
NM_001358530.2(MOCS1):c.124-69G>A rs45487695 0.00266
NM_000108.5(DLD):c.*1422C>T rs568479120 0.00265
NM_000207.3(INS):c.188-10G>A rs41275198 0.00262
NM_012463.4(ATP6V0A2):c.*785T>C rs146660715 0.00262
NM_000170.3(GLDC):c.1331G>A (p.Cys444Tyr) rs142099123 0.00261
NM_002108.4(HAL):c.*1518C>T rs148189130 0.00260
NM_001352514.2(HLCS):c.*19C>T rs137949852 0.00259
NM_002108.4(HAL):c.1645G>A (p.Val549Met) rs61937878 0.00258
NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu) rs138716143 0.00258
NM_001080.3(ALDH5A1):c.130C>G (p.Leu44Val) rs185042766 0.00257
NM_022081.6(HPS4):c.1883G>A (p.Arg628His) rs78892693 0.00257
NM_058179.4(PSAT1):c.*865C>G rs529821810 0.00257
NM_175914.5(HNF4A):c.744C>T (p.Asp248=) rs6031592 0.00257
NM_183050.4(BCKDHB):c.*2212T>C rs191556844 0.00257
NM_000017.4(ACADS):c.796-14G>C rs201420791 0.00256
NM_000277.3(PAH):c.*650A>G rs180991851 0.00256
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser) rs138824667 0.00256
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys) rs117687681 0.00255
NM_006721.4(ADK):c.66-24106T>C rs192064997 0.00255
NM_000018.4(ACADVL):c.1839G>A (p.Arg613=) rs79125791 0.00254
NM_000284.4(PDHA1):c.*1208A>C rs369499936 0.00252
NM_002500.4(NEUROD1):c.*1595G>A rs187310461 0.00252
NM_183050.4(BCKDHB):c.*1798C>T rs535334878 0.00251
NM_000126.4(ETFA):c.*99G>A rs140121559 0.00250
NM_003748.4(ALDH4A1):c.228G>A (p.Ser76=) rs145686117 0.00250
NM_000161.3(GCH1):c.*93G>A rs41298438 0.00249
NM_000162.5(GCK):c.209-8G>A rs144798843 0.00249
NM_003748.4(ALDH4A1):c.413C>T (p.Pro138Leu) rs139640415 0.00249
NM_000162.5(GCK):c.*356G>A rs146107173 0.00247
NM_004577.4(PSPH):c.72G>C (p.Thr24=) rs145408555 0.00245
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617 0.00244
NM_001032386.2(SUOX):c.1297C>T (p.Arg433Trp) rs61733163 0.00244
NM_014251.3(SLC25A13):c.1680C>T (p.Ser560=) rs150082469 0.00244
NM_000018.4(ACADVL):c.-36A>G rs372592554 0.00243
NM_000289.6(PFKM):c.1338G>A (p.Gly446=) rs150378513 0.00243
NM_000289.6(PFKM):c.1339C>A (p.Gln447Lys) rs145040928 0.00243
NM_000365.6(TPI1):c.*549A>G rs114310136 0.00243
NM_003477.3(PDHX):c.474G>A (p.Glu158=) rs148723565 0.00243
NM_000108.5(DLD):c.507C>T (p.Gly169=) rs144351432 0.00241
NM_000137.4(FAH):c.1259G>A (p.Ter420=) rs61747586 0.00241
NM_002108.4(HAL):c.1764-4G>T rs189238113 0.00241
NM_001358530.2(MOCS1):c.1668C>T (p.His556=) rs149233109 0.00240
NM_000048.4(ASL):c.162C>T (p.Leu54=) rs140221164 0.00238
NM_005518.4(HMGCS2):c.*12A>C rs182407677 0.00238
NM_022081.6(HPS4):c.*1589C>A rs117397456 0.00238
NM_000017.4(ACADS):c.423G>A (p.Thr141=) rs2239686 0.00237
NM_022081.6(HPS4):c.696G>A (p.Pro232=) rs3747132 0.00237
NM_000545.8(HNF1A):c.*908G>A rs140584786 0.00236
NM_000162.5(GCK):c.333C>T (p.Pro111=) rs61736250 0.00235
NM_001352514.2(HLCS):c.1074G>A (p.Thr358=) rs116985497 0.00235
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys) rs144090917 0.00234
NM_024747.6(HPS6):c.99A>G (p.Arg33=) rs139591041 0.00234
NM_175914.5(HNF4A):c.*1078G>A rs573432571 0.00233
NM_000126.4(ETFA):c.186+7A>G rs184587113 0.00231
NM_000320.3(QDPR):c.*568T>G rs560933456 0.00230
NM_001875.5(CPS1):c.3033G>C (p.Val1011=) rs35374255 0.00230
NM_020166.5(MCCC1):c.*1A>T rs115605600 0.00230
NM_001080.3(ALDH5A1):c.1348G>A (p.Asp450Asn) rs144177566 0.00229
NM_000458.4(HNF1B):c.444G>A (p.Ser148=) rs147218489 0.00228
NM_005518.4(HMGCS2):c.1419G>A (p.Lys473=) rs142776952 0.00228
NM_024747.6(HPS6):c.1779G>A (p.Pro593=) rs77529785 0.00228
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=) rs75897848 0.00225
NM_005589.4(ALDH6A1):c.*1820G>A rs111624130 0.00225
NM_000016.6(ACADM):c.469-9A>G rs181322317 0.00223
NM_001358530.2(MOCS1):c.*1445C>T rs575187638 0.00223
NM_001715.3(BLK):c.116C>T (p.Pro39Leu) rs142352008 0.00222
NM_002108.4(HAL):c.-68G>A rs565607247 0.00222
NM_014252.3(SLC25A15):c.-320G>C rs12372842 0.00222
NM_024747.6(HPS6):c.337C>T (p.Arg113Trp) rs371307947 0.00222
NM_001366110.1(PAX4):c.599G>A (p.Arg200His) rs2233580 0.00220
NM_175914.5(HNF4A):c.*568G>A rs142417840 0.00220
NM_020686.6(ABAT):c.641T>C (p.Met214Thr) rs149271402 0.00219
NM_001080.3(ALDH5A1):c.480C>T (p.Ser160=) rs143486700 0.00217
NM_003748.4(ALDH4A1):c.*9C>T rs138534161 0.00217
NM_000925.4(PDHB):c.132T>C (p.Asp44=) rs11542399 0.00216
NM_001366110.1(PAX4):c.456C>T (p.Val152=) rs61749955 0.00216
NM_005518.4(HMGCS2):c.270G>A (p.Gln90=) rs41302817 0.00216
NM_000458.4(HNF1B):c.*659G>A rs182736930 0.00215
NM_000071.3(CBS):c.*34G>A rs374464201 0.00214
NM_000170.3(GLDC):c.2487C>T (p.Ala829=) rs141806715 0.00213
NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser) rs139968311 0.00213
NM_058179.4(PSAT1):c.367A>G (p.Ile123Val) rs116577685 0.00213
NM_175914.5(HNF4A):c.*785G>A rs557646293 0.00213
NM_000182.5(HADHA):c.-1G>T rs72809666 0.00211
NM_000016.6(ACADM):c.127G>A (p.Glu43Lys) rs147559466 0.00210
NM_000687.4(AHCY):c.744C>T (p.Asn248=) rs150175934 0.00210
NM_153006.3(NAGS):c.1281C>G (p.Ala427=) rs371886833 0.00210
NM_000108.5(DLD):c.*1640A>G rs148148357 0.00209
NM_000275.3(OCA2):c.*166C>T rs182290687 0.00209
NM_000170.3(GLDC):c.1156-7C>G rs150095531 0.00208
NM_000284.4(PDHA1):c.*857A>G rs182836908 0.00208
NM_005271.5(GLUD1):c.*1282G>C rs181931207 0.00208
NM_001352514.2(HLCS):c.*590A>G rs148195019 0.00207
NM_005518.4(HMGCS2):c.1522G>A (p.Val508Ile) rs76773981 0.00207
NM_022081.6(HPS4):c.*1687A>G rs3752588 0.00207
NM_006721.4(ADK):c.*375A>G rs185021662 0.00206
NM_020686.6(ABAT):c.*204A>G rs141010230 0.00205
NM_000071.3(CBS):c.939G>A (p.Thr313=) rs2228298 0.00204
NM_000289.6(PFKM):c.2199-12A>G rs202008060 0.00204
NM_001366110.1(PAX4):c.14-188del rs533462973 0.00204
NM_000170.3(GLDC):c.2748G>A (p.Leu916=) rs139982267 0.00203
NM_000284.4(PDHA1):c.*864G>A rs192450087 0.00203
NM_002300.8(LDHB):c.523A>G (p.Met175Val) rs7966339 0.00203
NM_002108.4(HAL):c.1584G>A (p.Thr528=) rs115620008 0.00202
NM_175914.5(HNF4A):c.*1293C>T rs182919150 0.00201
NM_000170.3(GLDC):c.2683A>G (p.Met895Val) rs141152043 0.00200
NM_001358530.2(MOCS1):c.*477C>T rs184315150 0.00200
NM_003664.5(AP3B1):c.1857T>G (p.Leu619=) rs115892142 0.00200
NM_020686.6(ABAT):c.*1814T>C rs41312250 0.00200
NM_020686.6(ABAT):c.30G>A (p.Leu10=) rs34813662 0.00200
NM_001358530.2(MOCS1):c.*135T>G rs370974142 0.00198
NM_005327.7(HADH):c.643C>A (p.Pro215Thr) rs140413151 0.00198
NM_020686.6(ABAT):c.-52G>T rs532269694 0.00198
NM_003748.4(ALDH4A1):c.244G>A (p.Val82Met) rs76762510 0.00197
NM_000275.3(OCA2):c.*367C>G rs75043266 0.00196
NM_001918.5(DBT):c.1418A>G (p.Asn473Ser) rs75525811 0.00196
NM_000195.5(HPS1):c.*1326C>A rs146022441 0.00195
NM_005327.7(HADH):c.456G>T (p.Gln152His) rs1051519 0.00195
NM_175914.5(HNF4A):c.*1095G>A rs192208246 0.00195
NM_000429.3(MAT1A):c.789C>T (p.Gly263=) rs61734475 0.00193
NM_022081.6(HPS4):c.15C>T (p.Thr5=) rs144622501 0.00193
NM_001171993.2(HPD):c.-115+52A>G rs199549271 0.00192
NM_181507.2(HPS5):c.-75A>G rs193106100 0.00192
NM_175914.5(HNF4A):c.*76G>A rs11574743 0.00191
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg) rs117225135 0.00190
NM_000178.4(GSS):c.768-3C>T rs184506175 0.00189
NM_000071.3(CBS):c.954+8G>A rs76292057 0.00188
NM_003597.5(KLF11):c.86G>A (p.Arg29Gln) rs150096859 0.00188
NM_000284.4(PDHA1):c.-98C>T rs192773464 0.00187
NM_000525.4(KCNJ11):c.*1197G>A rs191682072 0.00187
NM_000525.4(KCNJ11):c.1095C>T (p.Arg365=) rs143276279 0.00187
NM_153006.3(NAGS):c.374C>A (p.Thr125Lys) rs185863881 0.00187
NM_000071.2(CBS):c.-160C>T rs112271970 0.00185
NM_000191.3(HMGCL):c.*104G>A rs552915017 0.00185
NM_000289.6(PFKM):c.702A>T (p.Pro234=) rs138022863 0.00185
NM_005518.4(HMGCS2):c.*78A>G rs143718202 0.00184
NM_022081.6(HPS4):c.1396C>T (p.Arg466Cys) rs147435410 0.00184
NM_153006.3(NAGS):c.1368C>G (p.Ser456=) rs147700427 0.00184
NM_181507.2(HPS5):c.1635-4C>G rs79009787 0.00184
NM_024747.6(HPS6):c.632G>C (p.Gly211Ala) rs200584437 0.00183
NM_153006.3(NAGS):c.1268+11G>A rs201629145 0.00183
NM_000275.3(OCA2):c.1026C>T (p.Tyr342=) rs1800403 0.00182
NM_003664.5(AP3B1):c.1069A>G (p.Ile357Val) rs142025324 0.00182
NM_005566.4(LDHA):c.608G>C (p.Gly203Ala) rs34305721 0.00181
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly) rs141093638 0.00181
NM_000170.3(GLDC):c.1927-9A>G rs41281773 0.00180
NM_001918.5(DBT):c.753C>T (p.Asp251=) rs79292123 0.00179
NM_014251.3(SLC25A13):c.1434G>T (p.Gly478=) rs146111714 0.00178
NM_001701.4(BAAT):c.843T>G (p.Ser281=) rs140793591 0.00177
NM_000275.3(OCA2):c.1560C>A (p.Leu520=) rs140932222 0.00176
NM_000372.5(TYR):c.1366+4A>G rs61754398 0.00175
NM_001918.5(DBT):c.*5328C>G rs150770445 0.00175
NM_175914.5(HNF4A):c.*2006T>C rs150112206 0.00175
NM_000096.4(CP):c.*1081T>A rs188137938 0.00174
NM_001715.3(BLK):c.711C>T (p.Pro237=) rs143699141 0.00174
NM_001875.5(CPS1):c.783C>T (p.Ile261=) rs142468138 0.00174
NM_003664.5(AP3B1):c.*44G>A rs182487478 0.00174
NM_003748.3(ALDH4A1):c.-73C>T rs559524012 0.00174
NM_014252.4(SLC25A15):c.*606C>G rs555003166 0.00174
NM_053013.4(ENO3):c.86-10C>T rs201571802 0.00174
NM_000182.5(HADHA):c.2060T>C (p.Met687Thr) rs149632783 0.00173
NM_001875.5(CPS1):c.3928-15T>C rs552764351 0.00173
NM_014252.4(SLC25A15):c.*1721C>T rs536553279 0.00173
NM_000550.3(TYRP1):c.*259T>C rs76349729 0.00172
NM_000550.3(TYRP1):c.70G>A (p.Ala24Thr) rs61758405 0.00171
NM_001352514.2(HLCS):c.*1856T>C rs151042283 0.00171
NM_020686.6(ABAT):c.*2744G>C rs192892941 0.00171
NM_002108.4(HAL):c.-322T>C rs77869005 0.00170
NM_003597.5(KLF11):c.782C>T (p.Pro261Leu) rs148123124 0.00170
NM_004577.4(PSPH):c.126C>T (p.Asp42=) rs75497420 0.00168
NM_000298.6(PKLR):c.*14C>T rs8177994 0.00166
NM_000550.3(TYRP1):c.1082-9T>C rs144041081 0.00166
NM_000187.4(HGD):c.129G>A (p.Gln43=) rs142789485 0.00165
NM_003060.4(SLC22A5):c.-234C>G rs4646300 0.00165
NM_183235.3(RAB27A):c.-142-86A>T rs191174694 0.00165
NM_001701.4(BAAT):c.997A>G (p.Ser333Gly) rs139829321 0.00163
NM_181507.2(HPS5):c.309A>G (p.Glu103=) rs77722090 0.00163
NM_000071.3(CBS):c.1059G>A (p.Thr353=) rs61735859 0.00162
NM_000289.5(PFKM):c.-177G>C rs78512814 0.00162
NM_003748.4(ALDH4A1):c.*189G>A rs11484737 0.00161
NM_020686.6(ABAT):c.*1922G>A rs116752370 0.00161
NM_175914.5(HNF4A):c.*1783G>T rs564110189 0.00161
NM_000352.6(ABCC8):c.3399+13G>A rs182340196 0.00160
NM_001358530.2(MOCS1):c.1064T>C (p.Ile355Thr) rs143912353 0.00159
NM_000550.3(TYRP1):c.913+9C>T rs147268542 0.00158
NM_183235.3(RAB27A):c.*2216A>G rs150526064 0.00158
NM_003597.5(KLF11):c.*2144C>T rs139703378 0.00157
NM_001080.3(ALDH5A1):c.*472C>T rs140376278 0.00156
NM_005566.4(LDHA):c.-64T>C rs200916427 0.00155
NM_012463.4(ATP6V0A2):c.*2618A>G rs193208741 0.00155
NM_000458.4(HNF1B):c.*625C>T rs188957129 0.00154
NM_006623.4(PHGDH):c.624T>C (p.Pro208=) rs77401816 0.00154
NM_022081.6(HPS4):c.-185A>G rs188205202 0.00154
NM_001033044.4(GLUL):c.*1357T>G rs180970725 0.00153
NM_002860.4(ALDH18A1):c.2232G>A (p.Ser744=) rs148601288 0.00153
NM_005518.4(HMGCS2):c.174C>T (p.Ala58=) rs138739620 0.00153
NM_005566.4(LDHA):c.*604A>T rs148774730 0.00153
NM_022081.6(HPS4):c.1700C>T (p.Ala567Val) rs140234219 0.00153
NM_000687.4(AHCY):c.853C>T (p.Arg285Trp) rs116846245 0.00152
NM_003597.5(KLF11):c.*2026G>C rs146068438 0.00152
NM_000161.3(GCH1):c.*736A>G rs150176097 0.00151
NM_001358530.2(MOCS1):c.*523T>C rs11963579 0.00151
NM_183235.3(RAB27A):c.-93G>T rs181491869 0.00151
NM_001033044.4(GLUL):c.-110A>G rs558342179 0.00150
NM_001918.5(DBT):c.*594A>G rs147781191 0.00150
NM_002108.4(HAL):c.*428C>G rs186840501 0.00150
NM_003477.3(PDHX):c.*331G>C rs555691861 0.00150
NM_005589.4(ALDH6A1):c.*234C>T rs117311919 0.00150
NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=) rs138886791 0.00150
NM_000481.4(AMT):c.*130G>T rs143731179 0.00149
NM_003748.4(ALDH4A1):c.298-14C>T rs201072479 0.00149
NM_000018.4(ACADVL):c.*53C>T rs535274747 0.00148
NM_000081.4(LYST):c.6710A>C (p.Gln2237Pro) rs138443479 0.00148
NM_005566.4(LDHA):c.439G>T (p.Ala147Ser) rs116841148 0.00148
NM_175914.5(HNF4A):c.*446G>A rs548013860 0.00147
NM_001080.3(ALDH5A1):c.886G>A (p.Ala296Thr) rs149482918 0.00146
NM_005589.4(ALDH6A1):c.*1655C>T rs12147048 0.00146
NM_001701.4(BAAT):c.*1597C>A rs571181388 0.00145
NM_005589.4(ALDH6A1):c.*1367A>G rs186963818 0.00145
NM_000156.6(GAMT):c.392-7C>T rs192416474 0.00144
NM_000195.5(HPS1):c.1888G>A (p.Val630Ile) rs139061260 0.00144
NM_000275.3(OCA2):c.*54A>G rs192734230 0.00144
NM_000387.6(SLC25A20):c.*476G>T rs545212823 0.00144
NM_000481.4(AMT):c.*545C>T rs114057053 0.00144
NM_181507.2(HPS5):c.3046G>A (p.Glu1016Lys) rs17853184 0.00144
NM_000372.5(TYR):c.650G>A (p.Arg217Gln) rs61754365 0.00143
NM_001358530.2(MOCS1):c.519T>G (p.Ser173Arg) rs61732596 0.00142
NM_001352514.2(HLCS):c.*2921A>G rs555149143 0.00141
NM_002150.3(HPD):c.498G>A (p.Met166Ile) rs149081239 0.00141
NM_014252.4(SLC25A15):c.*420T>G rs75842883 0.00141
NM_001352514.2(HLCS):c.*2243C>T rs554230015 0.00140
NM_014252.4(SLC25A15):c.*159C>G rs9577153 0.00139
NM_032383.5(HPS3):c.*98A>T rs113951847 0.00139
NM_000178.4(GSS):c.988C>T (p.Arg330Cys) rs148640446 0.00138
NM_001032386.2(SUOX):c.-11+1723G>A rs373341778 0.00138
NM_001033044.4(GLUL):c.768C>T (p.Phe256=) rs6684136 0.00138
NM_004577.4(PSPH):c.146G>A (p.Arg49Gln) rs144281276 0.00138
NM_014252.4(SLC25A15):c.*2630C>T rs138530613 0.00138
NM_020686.6(ABAT):c.*1319C>G rs186937149 0.00138
NM_000071.3(CBS):c.1359-14C>T rs115185587 0.00137
NM_000137.4(FAH):c.1098G>A (p.Ser366=) rs35033541 0.00137
NM_000183.2(HADHB):c.-185G>C rs367712851 0.00137
NM_000081.4(LYST):c.4337G>A (p.Arg1446Gln) rs111722949 0.00135
NM_000137.4(FAH):c.921A>G (p.Gly307=) rs76338717 0.00135
NM_000170.3(GLDC):c.*229C>G rs184498089 0.00135
NM_153006.3(NAGS):c.1216G>A (p.Asp406Asn) rs140481641 0.00135
NM_002860.4(ALDH18A1):c.1329C>T (p.Ile443=) rs117709404 0.00134
NM_153006.3(NAGS):c.612A>G (p.Val204=) rs139907815 0.00134
NM_000156.6(GAMT):c.348G>A (p.Leu116=) rs117884619 0.00133
NM_000709.4(BCKDHA):c.*334C>T rs528816040 0.00133
NM_002108.4(HAL):c.855+9C>T rs35144639 0.00133
NM_003748.4(ALDH4A1):c.1096G>A (p.Gly366Arg) rs41306567 0.00133
NM_005589.4(ALDH6A1):c.*1602G>A rs550384718 0.00133
NM_053013.4(ENO3):c.417G>A (p.Gly139=) rs142390642 0.00133
NM_212552.3(BOLA3):c.258+9A>C rs201380456 0.00133
NM_001080.3(ALDH5A1):c.*40T>C rs146793715 0.00132
NM_001701.4(BAAT):c.-209C>T rs565859257 0.00132
NM_020166.5(MCCC1):c.639+13A>G rs140342772 0.00132
NM_000170.3(GLDC):c.2955G>A (p.Thr985=) rs142004524 0.00131
NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser) rs150966847 0.00131
NM_003477.3(PDHX):c.47A>C (p.Tyr16Ser) rs118136428 0.00131
NM_000925.4(PDHB):c.198A>G (p.Ala66=) rs138621975 0.00130
NM_001875.5(CPS1):c.*274G>A rs528584074 0.00130
NM_002860.4(ALDH18A1):c.*227A>G rs943341 0.00129
NM_000352.6(ABCC8):c.1332+4del rs587783164 0.00128
NM_000429.3(MAT1A):c.*657C>T rs527968994 0.00128
NM_000550.3(TYRP1):c.98T>C (p.Val33Ala) rs146838872 0.00128
NM_000784.3(CYP27A1):c.-335C>T rs528284503 0.00128
NM_001358530.2(MOCS1):c.455G>A (p.Gly152Asp) rs116035280 0.00128
NM_054012.4(ASS1):c.1101G>A (p.Leu367=) rs139031154 0.00128
NM_000365.6(TPI1):c.*219C>T rs376899563 0.00127
NM_000081.4(LYST):c.8487C>T (p.Ile2829=) rs144597913 0.00126
NM_000284.4(PDHA1):c.*549A>G rs187525386 0.00126
NM_000458.4(HNF1B):c.*683G>A rs144234352 0.00126
NM_000195.5(HPS1):c.*719T>C rs557194861 0.00125
NM_000195.5(HPS1):c.557C>T (p.Ala186Val) rs1801286 0.00125
NM_001918.5(DBT):c.*3461A>G rs532058526 0.00125
NM_018444.4(PDP1):c.*1649_*1650insG rs886063184 0.00125
NM_000018.4(ACADVL):c.818G>C (p.Gly273Ala) rs150149784 0.00124
NM_000162.5(GCK):c.208+11G>A rs77440690 0.00124
NM_000187.4(HGD):c.919C>T (p.Arg307Cys) rs143556739 0.00124
NM_003748.4(ALDH4A1):c.102C>T (p.Asn34=) rs148778436 0.00124
NM_000126.4(ETFA):c.*46C>T rs183981964 0.00123
NM_000298.6(PKLR):c.*1067T>C rs559809916 0.00122
NM_000352.6(ABCC8):c.3975C>T (p.Tyr1325=) rs138141427 0.00121
NM_001002755.2(NFU1):c.-200G>A rs531177766 0.00121
NM_003124.5(SPR):c.*321G>C rs527829365 0.00121
NM_005566.4(LDHA):c.*243C>G rs76818137 0.00121
NM_022081.6(HPS4):c.*1253G>A rs534586940 0.00121
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923 0.00120
NM_000525.4(KCNJ11):c.1089A>G (p.Ser363=) rs5214 0.00120
NM_000298.6(PKLR):c.1706G>A (p.Arg569Gln) rs61755431 0.00119
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val) rs141373204 0.00119
NM_002860.4(ALDH18A1):c.-29+10G>A rs571140165 0.00119
NM_000290.4(PGAM2):c.726C>T (p.Ala242=) rs142209394 0.00118
NM_001352514.2(HLCS):c.*3162T>C rs552016201 0.00118
NM_000016.6(ACADM):c.*133T>C rs193140641 0.00117
NM_001080.3(ALDH5A1):c.*3190A>G rs182106500 0.00117
NM_001715.3(BLK):c.974A>C (p.Lys325Thr) rs77401687 0.00117
NM_003597.5(KLF11):c.*738A>G rs146942100 0.00117
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala) rs147370143 0.00117
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167 0.00116
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=) rs111967655 0.00116
NM_001902.6(CTH):c.685T>C (p.Cys229Arg) rs145785987 0.00116
NM_003748.4(ALDH4A1):c.135T>G (p.Pro45=) rs147154947 0.00116
NM_000275.3(OCA2):c.2293G>A (p.Ala765Thr) rs145968118 0.00115
NM_000525.4(KCNJ11):c.*862G>T rs547635594 0.00115
NM_001352514.2(HLCS):c.*2163A>G rs139776215 0.00115
NM_002500.5(NEUROD1):c.*164_*165del rs574102237 0.00115
NM_000284.4(PDHA1):c.*575T>C rs191995452 0.00114
NM_000481.4(AMT):c.*416C>T rs571207015 0.00114
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp) rs11568514 0.00114
NM_004453.4(ETFDH):c.1590A>G (p.Glu530=) rs143015234 0.00114
NM_005566.4(LDHA):c.183G>A (p.Glu61=) rs149588992 0.00113
NM_000170.3(GLDC):c.2988G>C (p.Gln996His) rs138640017 0.00112
NM_000284.4(PDHA1):c.*1297G>A rs778678656 0.00112
NM_002860.4(ALDH18A1):c.1308G>A (p.Leu436=) rs144816455 0.00112
NM_014049.5(ACAD9):c.928G>A (p.Val310Ile) rs139073821 0.00112
NM_020166.5(MCCC1):c.*6A>C rs199827064 0.00112
NM_183235.3(RAB27A):c.*370T>C rs144322660 0.00112
NM_000195.5(HPS1):c.198G>A (p.Ser66=) rs115265574 0.00111
NM_004531.5(MOCS2):c.*2045G>A rs577647122 0.00111
NM_012463.4(ATP6V0A2):c.*2929C>G rs145602576 0.00111
NM_000170.3(GLDC):c.498T>C (p.Pro166=) rs150193069 0.00110
NM_000284.4(PDHA1):c.*1345A>G rs193253848 0.00110
NM_000016.6(ACADM):c.678A>G (p.Ala226=) rs2229249 0.00108
NM_000018.4(ACADVL):c.780G>A (p.Thr260=) rs140871321 0.00108
NM_000081.4(LYST):c.4548C>T (p.Ser1516=) rs116551057 0.00108
NM_000137.4(FAH):c.565G>A (p.Val189Ile) rs145389125 0.00108
NM_000687.4(AHCY):c.-63A>G rs58942263 0.00108
NM_006721.4(ADK):c.1088G>A (p.Ter363=) rs148819558 0.00108
NM_014049.5(ACAD9):c.988A>C (p.Lys330Gln) rs79530903 0.00107
NM_181507.2(HPS5):c.2562-14G>C rs199999276 0.00107
NM_000081.4(LYST):c.7506A>G (p.Gln2502=) rs140434436 0.00106
NM_000161.3(GCH1):c.*1628A>C rs185031007 0.00106
NM_000353.3(TAT):c.*581G>A rs141029428 0.00106
NM_000071.3(CBS):c.1643G>A (p.Arg548Gln) rs150828989 0.00105
NM_001033044.4(GLUL):c.*2571C>T rs191511731 0.00105
NM_022081.6(HPS4):c.-585T>G rs187762406 0.00105
NM_000365.6(TPI1):c.321T>C (p.Asp107=) rs141972556 0.00104
NM_000429.3(MAT1A):c.*1029G>A rs886047309 0.00104
NM_020686.6(ABAT):c.*1416T>A rs553436440 0.00104
NM_000352.6(ABCC8):c.1920G>A (p.Ala640=) rs146156937 0.00103
NM_000709.4(BCKDHA):c.15C>T (p.Ile5=) rs17173144 0.00103
NM_001352514.2(HLCS):c.*2444C>T rs546201018 0.00103
NM_001918.5(DBT):c.*8083C>T rs190798710 0.00103
NM_001918.5(DBT):c.*8663T>C rs576300118 0.00103
NM_004453.4(ETFDH):c.1812G>A (p.Val604=) rs17843967 0.00103
NM_175914.5(HNF4A):c.*1013G>A rs767537996 0.00103
NM_000170.3(GLDC):c.*236G>T rs537707294 0.00102
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met) rs139524121 0.00102
NM_000365.6(TPI1):c.192G>A (p.Ala64=) rs149190846 0.00102
NM_001875.5(CPS1):c.637G>A (p.Gly213Ser) rs138392504 0.00102
NM_181507.2(HPS5):c.241G>A (p.Ala81Thr) rs147053126 0.00102
NM_000162.5(GCK):c.-455A>G rs140894490 0.00101
NM_000709.4(BCKDHA):c.840C>T (p.Arg280=) rs61737367 0.00101
NM_001482.3(GATM):c.69+13C>T rs573273215 0.00101
NM_006623.4(PHGDH):c.1559C>A (p.Ala520Glu) rs151275800 0.00101
NM_175914.5(HNF4A):c.*3143G>T rs535731605 0.00101
NM_058179.4(PSAT1):c.*670T>G rs143748888 0.00100
NM_000187.3(HGD):c.-452G>T rs142298361 0.00099
NM_001482.3(GATM):c.*699A>C rs750817737 0.00099
NM_002500.4(NEUROD1):c.*1555C>T rs192155087 0.00099
NM_004453.4(ETFDH):c.-97G>A rs183609368 0.00099
NM_054012.4(ASS1):c.420+13T>G rs201883474 0.00099
NM_175914.5(HNF4A):c.*277T>C rs149998598 0.00099
NM_000360.4(TH):c.-7C>T rs199925956 0.00098
NM_000687.4(AHCY):c.219+7C>G rs200332864 0.00098
NM_003124.5(SPR):c.305-12T>C rs192766290 0.00098
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val) rs117874766 0.00097
NM_000458.4(HNF1B):c.1045+12T>C rs141166864 0.00097
NM_000481.4(AMT):c.-76G>C rs544461335 0.00097
NM_032383.5(HPS3):c.51C>T (p.Pro17=) rs141883346 0.00097
NM_000071.3(CBS):c.-136C>T rs543595103 0.00096
NM_000126.4(ETFA):c.826A>C (p.Ile276Leu) rs141200145 0.00096
NM_000162.5(GCK):c.*847G>A rs76374134 0.00096
NM_000372.5(TYR):c.665T>C (p.Ile222Thr) rs34878847 0.00096
NM_001080.3(ALDH5A1):c.13A>G (p.Ile5Val) rs200398000 0.00096
NM_001918.5(DBT):c.*1917C>A rs886044957 0.00096
NM_003597.5(KLF11):c.*1608T>G rs142746538 0.00096
NM_000170.3(GLDC):c.2964G>A (p.Arg988=) rs146045718 0.00095
NM_002108.4(HAL):c.*789G>A rs549057913 0.00095
NM_006623.4(PHGDH):c.*140A>G rs587687027 0.00095
NM_000016.6(ACADM):c.994C>T (p.Leu332=) rs138098371 0.00093
NM_003597.5(KLF11):c.486A>G (p.Pro162=) rs146462049 0.00093
NM_003664.5(AP3B1):c.942G>A (p.Ala314=) rs146871001 0.00093
NM_014049.5(ACAD9):c.*341C>T rs530217617 0.00093
NM_000137.4(FAH):c.1205G>A (p.Arg402His) rs147796599 0.00092
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858 0.00092
NM_000284.4(PDHA1):c.*349A>G rs1013526559 0.00092
NM_000709.4(BCKDHA):c.708C>T (p.Phe236=) rs146932786 0.00092
NM_001918.5(DBT):c.*2074A>C rs536515775 0.00092
NM_014049.5(ACAD9):c.453+8A>G rs199919500 0.00092
NM_014251.3(SLC25A13):c.1311+3A>G rs180844972 0.00092
NM_018368.4(LMBRD1):c.981-11A>T rs75847296 0.00092
NM_022081.6(HPS4):c.1543T>C (p.Cys515Arg) rs148134252 0.00092
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776 0.00091
NM_001080.3(ALDH5A1):c.354+14G>A rs572861590 0.00091
NM_001352514.2(HLCS):c.331-7170T>A rs181989786 0.00091
NM_000048.4(ASL):c.*395C>T rs140184651 0.00090
NM_000531.6(OTC):c.-48G>T rs182454762 0.00090
NM_002108.4(HAL):c.*547G>T rs144002506 0.00090
NM_005589.4(ALDH6A1):c.194A>G (p.Asn65Ser) rs111975186 0.00090
NM_016180.5(SLC45A2):c.*24A>C rs45552240 0.00090
NM_000187.3(HGD):c.-383C>G rs148732655 0.00089
NM_000290.4(PGAM2):c.459C>T (p.Cys153=) rs143809043 0.00089
NM_000550.3(TYRP1):c.1029C>T (p.Asp343=) rs145061390 0.00089
NM_003748.4(ALDH4A1):c.1261T>C (p.Cys421Arg) rs149414160 0.00089
NM_005566.4(LDHA):c.*762T>G rs189063205 0.00089
NM_012463.4(ATP6V0A2):c.*1681G>A rs575925916 0.00089
NM_012463.4(ATP6V0A2):c.*577C>T rs577796265 0.00089
NM_014251.3(SLC25A13):c.-115G>T rs543933601 0.00089
NM_000161.3(GCH1):c.*1044G>A rs143961472 0.00088
NM_003597.5(KLF11):c.1205G>A (p.Arg402Gln) rs34762805 0.00088
NM_003664.5(AP3B1):c.1198G>C (p.Ala400Pro) rs150000996 0.00088
NM_000045.4(ARG1):c.62G>A (p.Arg21Gln) rs144994895 0.00087
NM_001352514.2(HLCS):c.1695C>T (p.Leu565=) rs138209330 0.00087
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile) rs149291867 0.00087
NM_175914.5(HNF4A):c.*3153C>A rs569302875 0.00087
NM_181507.2(HPS5):c.*70C>T rs371535842 0.00087
NM_000071.3(CBS):c.52C>T (p.Arg18Cys) rs201827340 0.00086
NM_000081.4(LYST):c.2769A>C (p.Ser923=) rs112739986 0.00086
NM_000081.4(LYST):c.8027G>T (p.Ser2676Ile) rs113209379 0.00086
NM_001370658.1(BTD):c.1041C>T (p.Gly347=) rs142421934 0.00086
NM_004531.5(MOCS2):c.*1483C>T rs538696423 0.00086
NM_005589.4(ALDH6A1):c.145G>A (p.Val49Ile) rs140308322 0.00086
NM_022081.6(HPS4):c.888C>T (p.Asn296=) rs138343171 0.00086
NM_003060.4(SLC22A5):c.934A>G (p.Ile312Val) rs77300588 0.00085
NM_012463.4(ATP6V0A2):c.1189+12G>T rs377235629 0.00085
NM_000178.4(GSS):c.1253G>A (p.Arg418Gln) rs150141794 0.00084
NM_000550.3(TYRP1):c.67C>T (p.Arg23Trp) rs141834891 0.00084
NM_000709.4(BCKDHA):c.376-4C>T rs199725420 0.00084
NM_001902.6(CTH):c.*630G>A rs543839341 0.00084
NM_005327.7(HADH):c.*377G>A rs148809781 0.00084
NM_175914.5(HNF4A):c.84G>A (p.Ala28=) rs41282026 0.00084
NM_000071.3(CBS):c.*18G>A rs200259659 0.00083
NM_000071.3(CBS):c.833T>C (p.Ile278Thr) rs5742905 0.00083
NM_000352.6(ABCC8):c.1707C>T (p.Ala569=) rs147623093 0.00083
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys) rs149897566 0.00083
NM_001701.4(BAAT):c.*365T>C rs565981676 0.00083
NM_001918.5(DBT):c.*3521G>A rs754461561 0.00083
NM_004531.5(MOCS2):c.*2672G>C rs188004174 0.00083
NM_006623.4(PHGDH):c.682G>T (p.Gly228Trp) rs139063843 0.00083
NM_014251.3(SLC25A13):c.*310C>T rs530869704 0.00083
NM_014252.4(SLC25A15):c.*1602T>G rs1003165090 0.00083
NM_000925.4(PDHB):c.288T>C (p.Ala96=) rs138128142 0.00082
NM_003477.3(PDHX):c.579A>G (p.Glu193=) rs61752926 0.00082
NM_022081.6(HPS4):c.*1387T>A rs3752590 0.00082
NM_000275.3(OCA2):c.*1T>C rs138228425 0.00081
NM_000365.6(TPI1):c.366C>T (p.Leu122=) rs138131191 0.00081
NM_000545.8(HNF1A):c.1107+9C>G rs17847497 0.00081
NM_001080.3(ALDH5A1):c.*942A>G rs750171065 0.00081
NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys) rs140243105 0.00081
NM_001875.5(CPS1):c.2192+6A>T rs201058019 0.00081
NM_004577.4(PSPH):c.455C>T (p.Thr152Ile) rs147304638 0.00081
NM_005589.4(ALDH6A1):c.*1011C>A rs181399266 0.00081
NM_020166.5(MCCC1):c.*45A>T rs186406584 0.00081
NM_000108.5(DLD):c.788G>A (p.Arg263His) rs145670503 0.00080
NM_001902.6(CTH):c.*632G>A rs565236096 0.00080
NM_000016.6(ACADM):c.645T>A (p.Ala215=) rs147395095 0.00079
NM_000126.4(ETFA):c.533C>G (p.Thr178Arg) rs140169311 0.00079
NM_001875.5(CPS1):c.*187C>T rs543723956 0.00079
NM_003060.4(SLC22A5):c.1380C>T (p.Asn460=) rs149521997 0.00079
NM_000277.3(PAH):c.*699C>T rs189466448 0.00078
NM_000277.3(PAH):c.*735T>C rs185081299 0.00078
NM_001002755.4(NFU1):c.166+8T>A rs199927640 0.00078
NM_001918.5(DBT):c.327C>T (p.Thr109=) rs138796800 0.00078
NM_004577.4(PSPH):c.-339T>C rs535243315 0.00078
NM_012463.4(ATP6V0A2):c.1590C>T (p.Pro530=) rs80355657 0.00078
NM_014251.3(SLC25A13):c.*909C>G rs550323481 0.00078
NM_022081.5(HPS4):c.-628C>G rs56821996 0.00078
NM_000156.6(GAMT):c.581T>C (p.Val194Ala) rs147739199 0.00077
NM_005327.7(HADH):c.*600C>T rs544321475 0.00077
NM_014252.4(SLC25A15):c.564C>T (p.Phe188=) rs141028076 0.00077
NM_054012.4(ASS1):c.*223A>T rs187259733 0.00077
NM_000195.5(HPS1):c.952C>G (p.Leu318Val) rs201808262 0.00076
NM_000365.6(TPI1):c.-31C>T rs200692430 0.00076
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) rs137853247 0.00076
NM_001080.3(ALDH5A1):c.293C>G (p.Ala98Gly) rs535825137 0.00076
NM_004453.4(ETFDH):c.832-10T>G rs200911913 0.00076
NM_053013.4(ENO3):c.226G>C (p.Ala76Pro) rs143945974 0.00076
NM_001701.4(BAAT):c.*1824C>T rs534889362 0.00075
NM_004531.5(MOCS2):c.229A>G (p.Thr77Ala) rs2233215 0.00075
NM_014251.3(SLC25A13):c.1910T>C (p.Val637Ala) rs148962110 0.00075
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met) rs138480247 0.00075
NM_000550.3(TYRP1):c.785C>T (p.Thr262Met) rs61752939 0.00074
NM_001352514.2(HLCS):c.1331G>A (p.Arg444Gln) rs146030669 0.00074
NM_001366110.1(PAX4):c.313C>T (p.Arg105Cys) rs144792551 0.00074
NM_001918.5(DBT):c.*4273C>A rs12568926 0.00074
NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln) rs139306043 0.00074
NM_004531.5(MOCS2):c.*735G>A rs144697442 0.00074
NM_005327.4(HADH):c.-51delC rs574132278 0.00074
NM_000081.4(LYST):c.10235G>A (p.Arg3412His) rs148409403 0.00073
NM_000178.4(GSS):c.1158G>A (p.Leu386=) rs141866304 0.00073
NM_000178.4(GSS):c.816T>G (p.Pro272=) rs35051256 0.00073
NM_000274.4(OAT):c.1224T>C (p.His408=) rs201864147 0.00073
NM_003060.4(SLC22A5):c.279G>C (p.Ser93=) rs377734902 0.00073
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669 0.00072
NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr) rs138687850 0.00072
NM_000481.4(AMT):c.354G>A (p.Leu118=) rs145194293 0.00072
NM_000182.5(HADHA):c.*355C>T rs539549041 0.00071
NM_000289.6(PFKM):c.453G>A (p.Thr151=) rs144370737 0.00071
NM_002108.4(HAL):c.1472G>T (p.Gly491Val) rs141635447 0.00071
NM_020686.6(ABAT):c.*2986T>C rs79763179 0.00071
NM_020686.6(ABAT):c.*435G>A rs572396439 0.00071
NM_022081.6(HPS4):c.*769G>A rs187297219 0.00071
NM_000274.4(OAT):c.48C>T (p.Arg16=) rs143526711 0.00070
NM_000275.3(OCA2):c.1857C>T (p.Asp619=) rs7164127 0.00070
NM_000353.3(TAT):c.*682T>C rs118086978 0.00070
NM_001080.3(ALDH5A1):c.*2852C>G rs560247554 0.00070
NM_002300.8(LDHB):c.621G>T (p.Val207=) rs147896432 0.00070
NM_002860.4(ALDH18A1):c.2160C>T (p.Phe720=) rs374052426 0.00070
NM_006623.4(PHGDH):c.*165_*166insGTAG rs140037378 0.00070
NM_024747.6(HPS6):c.1692C>T (p.Pro564=) rs147449083 0.00070
NM_175914.5(HNF4A):c.426+6G>A rs182980547 0.00070
NM_000277.3(PAH):c.30C>G (p.Gly10=) rs1801145 0.00069
NM_002108.4(HAL):c.322C>T (p.Arg108Trp) rs143854097 0.00069
NM_000071.3(CBS):c.636C>T (p.Asn212=) rs2298758 0.00068
NM_000195.5(HPS1):c.122C>T (p.Pro41Leu) rs142934882 0.00068
NM_000284.4(PDHA1):c.*432C>T rs754719295 0.00068
NM_003477.3(PDHX):c.-23C>A rs201033364 0.00068
NM_005271.5(GLUD1):c.*1501G>C rs768450394 0.00068
NM_153006.3(NAGS):c.1302C>T (p.Pro434=) rs150004962 0.00068
NM_000071.3(CBS):c.829-13G>A rs201106576 0.00067
NM_000137.4(FAH):c.553+10C>T rs201051426 0.00067
NM_000365.6(TPI1):c.448G>T (p.Val150Phe) rs150585849 0.00067
NM_000687.4(AHCY):c.1008C>T (p.Ile336=) rs139344907 0.00067
NM_000018.4(ACADVL):c.1567G>A (p.Gly523Arg) rs139425622 0.00066
NM_001080.3(ALDH5A1):c.*563G>A rs528167769 0.00066
NM_002108.4(HAL):c.1609T>C (p.Trp537Arg) rs150591434 0.00066
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser) rs139203363 0.00066
NM_003124.5(SPR):c.*108G>A rs372751802 0.00066
NM_004577.4(PSPH):c.115G>A (p.Gly39Ser) rs147077540 0.00066
NM_014049.5(ACAD9):c.1221A>G (p.Thr407=) rs139048558 0.00066
NM_000162.5(GCK):c.-215A>G rs13306390 0.00065
NM_000195.5(HPS1):c.787C>T (p.Arg263Trp) rs145042327 0.00065
NM_001875.5(CPS1):c.1714G>A (p.Asp572Asn) rs142916171 0.00065
NM_003748.4(ALDH4A1):c.369C>G (p.Asp123Glu) rs147600006 0.00065
NM_020686.6(ABAT):c.*2629G>A rs186857840 0.00065
NM_000458.4(HNF1B):c.*691A>G rs751817675 0.00064
NM_001033044.4(GLUL):c.-14+997A>G rs187277313 0.00064
NM_001918.5(DBT):c.*4506A>G rs112901689 0.00064
NM_012463.4(ATP6V0A2):c.*1122A>G rs3827881 0.00064
NM_212552.3(BOLA3):c.-35C>T rs761339384 0.00064
NM_001482.3(GATM):c.407C>T (p.Thr136Met) rs148564534 0.00063
NM_003748.4(ALDH4A1):c.*367C>T rs142571888 0.00063
NM_054012.3(ASS1):c.-171G>A rs886063529 0.00063
NM_000709.4(BCKDHA):c.1191C>T (p.Ala397=) rs374403946 0.00062
NM_001875.5(CPS1):c.*427C>T rs111328810 0.00062
NM_005327.7(HADH):c.*168A>T rs532458283 0.00062
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs) rs749272546 0.00062
NM_000018.4(ACADVL):c.1284G>A (p.Lys428=) rs35501596 0.00061
NM_000081.4(LYST):c.8368A>C (p.Lys2790Gln) rs138506576 0.00061
NM_000170.3(GLDC):c.2730G>A (p.Ser910=) rs144937031 0.00061
NM_000187.3(HGD):c.*210G>A rs768955353 0.00061
NM_000284.4(PDHA1):c.*321C>T rs886566327 0.00061
NM_000284.4(PDHA1):c.97G>C (p.Asp33His) rs150318528 0.00061
NM_000352.5(ABCC8):c.*118A>G rs142441893 0.00061
NM_000709.4(BCKDHA):c.*244C>T rs749083860 0.00061
NM_001033044.4(GLUL):c.*849C>T rs577169145 0.00061
NM_001352514.2(HLCS):c.331-7076C>T rs541806392 0.00061
NM_003060.4(SLC22A5):c.1441G>A (p.Val481Ile) rs11568513 0.00061
NM_014049.5(ACAD9):c.1022T>C (p.Leu341Ser) rs141874052 0.00061
NM_014252.4(SLC25A15):c.*2071C>T rs757326840 0.00061
NM_058179.4(PSAT1):c.*496A>G rs553854445 0.00061
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val) rs147638455 0.00061
NM_014251.3(SLC25A13):c.1230+11T>C rs201352939 0.00060
NM_032383.5(HPS3):c.*96T>A rs879086473 0.00060
NM_032383.5(HPS3):c.1152C>T (p.His384=) rs113381494 0.00060
NM_000195.5(HPS1):c.*943C>T rs558066370 0.00059
NM_001352514.2(HLCS):c.*2814C>T rs146199781 0.00059
NM_001715.3(BLK):c.1075C>T (p.Arg359Cys) rs146505280 0.00059
NM_003060.4(SLC22A5):c.414C>T (p.Asp138=) rs150705788 0.00059
NM_012463.4(ATP6V0A2):c.*1599C>T rs534414817 0.00059
NM_000018.4(ACADVL):c.1824C>T (p.Ile608=) rs146115467 0.00058
NM_000081.4(LYST):c.2363+10dup rs760632806 0.00058
NM_000170.3(GLDC):c.936C>T (p.Ile312=) rs79057118 0.00058
NM_000182.5(HADHA):c.1212G>C (p.Val404=) rs116396996 0.00058
NM_000284.4(PDHA1):c.604-10C>T rs201754585 0.00058
NM_000531.6(OTC):c.298+5G>C rs72554348 0.00058
NM_001002755.4(NFU1):c.167-13T>G rs181762580 0.00058
NM_001358530.2(MOCS1):c.*762G>A rs115429345 0.00058
NM_001358530.2(MOCS1):c.124-167C>T rs189991561 0.00058
NM_001482.3(GATM):c.*27C>G rs200143728 0.00058
NM_001875.5(CPS1):c.2025C>T (p.Ala675=) rs143913650 0.00058
NM_020166.5(MCCC1):c.254A>C (p.Asn85Thr) rs148616219 0.00058
NM_022081.6(HPS4):c.593G>A (p.Gly198Glu) rs199965734 0.00058
NM_000048.4(ASL):c.399G>A (p.Ser133=) rs141584041 0.00057
NM_000161.3(GCH1):c.*12T>C rs190993883 0.00057
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257 0.00057
NM_000481.4(AMT):c.*678C>G rs779703869 0.00057
NM_001002755.4(NFU1):c.*103G>A rs774104725 0.00057
NM_001032386.2(SUOX):c.228G>T (p.Arg76Ser) rs202085145 0.00057
NM_001715.3(BLK):c.223C>G (p.Arg75Gly) rs149393791 0.00057
NM_002300.8(LDHB):c.767G>A (p.Ser256Asn) rs145355418 0.00057
NM_020686.6(ABAT):c.267C>T (p.Asp89=) rs199666932 0.00057
NM_183050.4(BCKDHB):c.*1603G>A rs143744799 0.00057
NM_183235.3(RAB27A):c.*2343G>C rs141632141 0.00057
NM_000017.4(ACADS):c.669G>A (p.Thr223=) rs17848089 0.00056
NM_000071.3(CBS):c.215A>T (p.Lys72Ile) rs192232907 0.00056
NM_000360.4(TH):c.1398C>T (p.Ile466=) rs118175546 0.00056
NM_000429.3(MAT1A):c.*211G>A rs183652762 0.00056
NM_001352514.2(HLCS):c.*2545C>A rs180866987 0.00056
NM_001358530.2(MOCS1):c.282G>A (p.Pro94=) rs145146059 0.00056
NM_002500.4(NEUROD1):c.*1339T>C rs17847284 0.00056
NM_003477.3(PDHX):c.161-6T>C rs200438675 0.00056
NM_003597.5(KLF11):c.*756C>T rs886054727 0.00056
NM_004577.4(PSPH):c.-357C>T rs745752622 0.00056
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser) rs149017703 0.00056
NM_058179.4(PSAT1):c.445G>A (p.Val149Met) rs142975997 0.00056
NM_181507.2(HPS5):c.3229C>T (p.Arg1077Trp) rs75482179 0.00056
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys) rs61732144 0.00055
NM_001358530.2(MOCS1):c.*1003G>A rs374341048 0.00055
NM_001918.5(DBT):c.*5969C>T rs141483625 0.00055
NM_003597.5(KLF11):c.-83G>A rs943136426 0.00055
NM_005566.4(LDHA):c.*725T>G rs753218262 0.00055
NM_153006.3(NAGS):c.*90G>A rs567905267 0.00055
NM_175914.5(HNF4A):c.*271C>T rs11574745 0.00055
NM_000274.4(OAT):c.1311G>T (p.Leu437Phe) rs1800456 0.00054
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp) rs143218168 0.00054
NM_000360.4(TH):c.897C>T (p.Phe299=) rs76719766 0.00054
NM_000545.8(HNF1A):c.*939G>A rs751401246 0.00054
NM_001482.3(GATM):c.*55C>A rs771806537 0.00054
NM_001715.3(BLK):c.1302G>A (p.Val434=) rs145686279 0.00054
NM_001875.5(CPS1):c.195C>T (p.Ser65=) rs192759073 0.00054
NM_003597.5(KLF11):c.*2265T>A rs757068768 0.00054
NM_183050.4(BCKDHB):c.*1554C>G rs563993638 0.00054
NM_183235.3(RAB27A):c.*725C>T rs116903039 0.00054
NM_000137.4(FAH):c.181G>T (p.Val61Phe) rs151264725 0.00053
NM_000709.4(BCKDHA):c.289-5C>T rs200646708 0.00053
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=) rs141519183 0.00053
NM_001032386.2(SUOX):c.*155C>T rs530553316 0.00053
NM_003664.5(AP3B1):c.3131+5G>T rs191616060 0.00053
NM_005327.7(HADH):c.-115del rs537335460 0.00053
NM_016180.5(SLC45A2):c.1352G>A (p.Arg451His) rs142680641 0.00053
NM_000081.4(LYST):c.8806G>A (p.Val2936Ile) rs2753327 0.00052
NM_000108.5(DLD):c.*1307C>T rs568807016 0.00052
NM_000161.3(GCH1):c.*715G>T rs886050545 0.00052
NM_000178.4(GSS):c.-46A>G rs886056642 0.00052
NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln) rs113403872 0.00052
NM_000709.4(BCKDHA):c.1081A>G (p.Ile361Val) rs61736656 0.00052
NM_001033044.4(GLUL):c.*2074dup rs111775366 0.00052
NM_001875.5(CPS1):c.948-6C>T rs112199960 0.00052
NM_002860.4(ALDH18A1):c.*698G>A rs557388312 0.00052
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921 0.00052
NM_183050.4(BCKDHB):c.*83C>T rs564127416 0.00052
NM_000018.4(ACADVL):c.1473A>G (p.Leu491=) rs150518187 0.00051
NM_000170.3(GLDC):c.470+11T>C rs142534180 0.00051
NM_000178.4(GSS):c.1203C>T (p.Ile401=) rs138574949 0.00051
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388 0.00051
NM_000372.5(TYR):c.504C>T (p.Asn168=) rs148813091 0.00051
NM_000925.4(PDHB):c.701-3C>T rs377063331 0.00051
NM_001080.3(ALDH5A1):c.*2903C>T rs532636189 0.00051
NM_001366110.1(PAX4):c.116G>A (p.Arg39Gln) rs115887120 0.00051
NM_001918.5(DBT):c.*7307G>C rs182980145 0.00051
NM_002150.3(HPD):c.1005C>G (p.Ile335Met) rs137852868 0.00051
NM_006623.4(PHGDH):c.834C>A (p.Val278=) rs147866831 0.00051
NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser) rs138607412 0.00051
NM_020166.5(MCCC1):c.-23C>T rs374636986 0.00051
NM_054012.4(ASS1):c.*55A>C rs191668957 0.00051
NM_000162.5(GCK):c.*510C>T rs141645300 0.00050
NM_000182.5(HADHA):c.652G>C (p.Val218Leu) rs71441018 0.00050
NM_000687.4(AHCY):c.390C>T (p.Asp130=) rs143931269 0.00050
NM_001033044.4(GLUL):c.*1218G>A rs549506269 0.00050
NM_001033044.4(GLUL):c.*2313C>T rs886045601 0.00050
NM_002500.5(NEUROD1):c.*253A>G rs546609239 0.00050
NM_003477.3(PDHX):c.674C>T (p.Thr225Met) rs148645836 0.00050
NM_004453.4(ETFDH):c.1375C>T (p.His459Tyr) rs200111698 0.00050
NM_000081.4(LYST):c.3083C>G (p.Ser1028Cys) rs150636017 0.00049
NM_000161.3(GCH1):c.*20C>T rs143111433 0.00049
NM_000162.5(GCK):c.-453C>T rs191795044 0.00049
NM_000170.3(GLDC):c.2328C>T (p.Leu776=) rs149600380 0.00049
NM_000178.4(GSS):c.*68G>T rs36066003 0.00049
NM_000195.5(HPS1):c.1915G>A (p.Gly639Ser) rs116698870 0.00049
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00049
NM_000352.6(ABCC8):c.3867+7G>A rs372198547 0.00049
NM_001032386.2(SUOX):c.119G>A (p.Arg40His) rs117778870 0.00049
NM_001875.5(CPS1):c.1021T>G (p.Leu341Val) rs138424013 0.00049
NM_001918.5(DBT):c.1210-11T>A rs751951997 0.00049
NM_004531.5(MOCS2):c.296C>T (p.Ala99Val) rs2233217 0.00049
NM_005327.4(HADH):c.-203A>G rs376591232 0.00049
NM_018368.4(LMBRD1):c.-103A>G rs369575833 0.00049
NM_020166.5(MCCC1):c.130G>T (p.Ala44Ser) rs201216516 0.00049
NM_020166.5(MCCC1):c.131C>T (p.Ala44Val) rs200673204 0.00049
NM_000137.4(FAH):c.81+12G>A rs200319726 0.00048
NM_002150.3(HPD):c.294C>T (p.Phe98=) rs117079110 0.00048
NM_003597.5(KLF11):c.953T>G (p.Leu318Arg) rs144431930 0.00048
NM_014049.5(ACAD9):c.195T>C (p.Asn65=) rs144978857 0.00048
NM_176806.4(MOCS2):c.14G>A (p.Cys5Tyr) rs572637154 0.00048
NM_001032386.2(SUOX):c.*479T>C rs150059569 0.00047
NM_001080.3(ALDH5A1):c.1107C>T (p.Arg369=) rs148188703 0.00047
NM_001701.4(BAAT):c.1134C>T (p.His378=) rs118089324 0.00047
NM_001918.5(DBT):c.*9105A>G rs574151688 0.00047
NM_003664.5(AP3B1):c.822C>T (p.Tyr274=) rs112652327 0.00047
NM_022081.6(HPS4):c.-395A>C rs147631281 0.00047
NM_058179.4(PSAT1):c.1059C>T (p.Asp353=) rs115639310 0.00047
NM_181507.2(HPS5):c.2866T>C (p.Tyr956His) rs147430035 0.00047
NM_000081.4(LYST):c.10526G>A (p.Arg3509Gln) rs138936105 0.00046
NM_000108.5(DLD):c.*1791_*1794del rs760145994 0.00046
NM_000156.6(GAMT):c.*239C>T rs550282678 0.00046
NM_000162.5(GCK):c.*11C>T rs200698755 0.00046
NM_000274.3(OAT):c.-83A>G rs969985784 0.00046
NM_000274.4(OAT):c.1015-6A>G rs561800688 0.00046
NM_000298.6(PKLR):c.507+14C>A rs201156800 0.00046
NM_000320.3(QDPR):c.588G>C (p.Glu196Asp) rs112209600 0.00046
NM_000387.6(SLC25A20):c.*357C>T rs78776342 0.00046
NM_000545.8(HNF1A):c.*1070C>T rs568653423 0.00046
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_002108.4(HAL):c.1763+9A>C rs201942023 0.00046
NM_003664.5(AP3B1):c.1184A>G (p.Asn395Ser) rs145351589 0.00046
NM_003748.4(ALDH4A1):c.*19C>T rs377545652 0.00046
NM_212552.3(BOLA3):c.319C>T (p.Arg107Cys) rs150626228 0.00046
NM_000108.5(DLD):c.100A>G (p.Thr34Ala) rs138002793 0.00045
NM_000275.3(OCA2):c.1762C>T (p.Arg588Trp) rs150711896 0.00045
NM_000298.6(PKLR):c.-26C>T rs200181342 0.00045
NM_000545.8(HNF1A):c.*1312C>T rs56335342 0.00045
NM_001352514.2(HLCS):c.215A>T (p.Lys72Met) rs191115811 0.00045
NM_001358530.2(MOCS1):c.981+12C>T rs377628500 0.00045
NM_003597.5(KLF11):c.*612C>T rs187519040 0.00045
NM_003748.4(ALDH4A1):c.-26G>T rs536547354 0.00045
NM_022081.5(HPS4):c.-661G>T rs753668169 0.00045
NM_032383.5(HPS3):c.*95A>C rs1013031553 0.00045
NM_176806.4(MOCS2):c.178C>T (p.Arg60Cys) rs146074751 0.00045
NM_000170.3(GLDC):c.*188C>T rs577665662 0.00044
NM_000275.3(OCA2):c.1336A>G (p.Met446Val) rs140566426 0.00044
NM_000429.3(MAT1A):c.-72A>G rs200488580 0.00044
NM_001358530.2(MOCS1):c.*659A>G rs142815887 0.00044
NM_001918.5(DBT):c.*1332T>C rs191584096 0.00044
NM_003748.4(ALDH4A1):c.1098G>A (p.Gly366=) rs147471420 0.00044
NM_054012.3(ASS1):c.-286_-285insT rs886063525 0.00044
NM_183050.4(BCKDHB):c.*1010A>G rs536048070 0.00044
NM_000017.4(ACADS):c.*27C>T rs188190117 0.00043
NM_000081.4(LYST):c.3208A>G (p.Ile1070Val) rs150321124 0.00043
NM_000156.6(GAMT):c.-78C>T rs886054249 0.00043
NM_000156.6(GAMT):c.-79G>A rs966975299 0.00043
NM_000191.3(HMGCL):c.443A>G (p.Gln148Arg) rs192833530 0.00043
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) rs121918170 0.00043
NM_000289.6(PFKM):c.*622G>A rs568063197 0.00043
NM_000709.4(BCKDHA):c.288C>T (p.His96=) rs148571328 0.00043
NM_001358530.2(MOCS1):c.1015C>T (p.Arg339Trp) rs148579886 0.00043
NM_001701.4(BAAT):c.*1617C>T rs146019667 0.00043
NM_002108.4(HAL):c.*392C>T rs796922923 0.00043
NM_005518.3(HMGCS2):c.*862G>A rs752746599 0.00043
NM_022081.6(HPS4):c.618G>A (p.Pro206=) rs139165558 0.00043
NM_175914.5(HNF4A):c.*7G>A rs186057842 0.00043
NM_175914.5(HNF4A):c.138G>A (p.Thr46=) rs145845882 0.00043
NM_000178.4(GSS):c.-80G>C rs570588543 0.00042
NM_000195.5(HPS1):c.1928G>A (p.Gly643Glu) rs148225281 0.00042
NM_000275.3(OCA2):c.*271G>A rs151210258 0.00042
NM_000360.4(TH):c.363G>A (p.Pro121=) rs370429316 0.00042
NM_001358530.2(MOCS1):c.*84A>G rs752606397 0.00042
NM_002860.4(ALDH18A1):c.1314C>T (p.Ile438=) rs150526956 0.00042
NM_003124.5(SPR):c.*410C>G rs886056290 0.00042
NM_003477.3(PDHX):c.*743G>A rs577162977 0.00042
NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp) rs139145143 0.00042
NM_020686.6(ABAT):c.109G>A (p.Val37Ile) rs140119176 0.00042
NM_000017.4(ACADS):c.-56C>G rs567626964 0.00041
NM_000018.4(ACADVL):c.1077+15C>T rs202237278 0.00041
NM_000045.4(ARG1):c.*310A>G rs142812031 0.00041
NM_000137.4(FAH):c.243G>A (p.Ala81=) rs36122289 0.00041
NM_000525.4(KCNJ11):c.-546G>T rs886048045 0.00041
NM_001033044.4(GLUL):c.*2172C>T rs771874332 0.00041
NM_001080.3(ALDH5A1):c.*1355C>T rs138759652 0.00041
NM_001358530.2(MOCS1):c.394C>T (p.Arg132Trp) rs377167949 0.00041
NM_001358530.2(MOCS1):c.431G>A (p.Arg144Gln) rs138822116 0.00041
NM_002108.4(HAL):c.*1169G>T rs745355227 0.00041
NM_002150.3(HPD):c.895C>T (p.Leu299=) rs144544907 0.00041
NM_003664.5(AP3B1):c.3207G>A (p.Gln1069=) rs34089426 0.00041
NM_014049.5(ACAD9):c.152A>T (p.Lys51Ile) rs149931573 0.00041
NM_014251.3(SLC25A13):c.2T>C (p.Met1Thr) rs541276426 0.00041
NM_058179.4(PSAT1):c.665G>A (p.Arg222Gln) rs114496656 0.00041
NM_175914.5(HNF4A):c.726G>A (p.Val242=) rs145280017 0.00041
NM_000108.5(DLD):c.*1857A>C rs774099916 0.00040
NM_000277.3(PAH):c.1315+1G>A rs5030861 0.00040
NM_000298.6(PKLR):c.1686C>T (p.Ser562=) rs140859641 0.00040
NM_000298.6(PKLR):c.92C>T (p.Ala31Val) rs150077703 0.00040
NM_001080.3(ALDH5A1):c.*2400G>C rs745635354 0.00040
NM_001875.5(CPS1):c.4089G>T (p.Leu1363=) rs368890059 0.00040
NM_001902.6(CTH):c.864G>A (p.Lys288=) rs368097625 0.00040
NM_003597.5(KLF11):c.1503G>A (p.Pro501=) rs36091043 0.00040
NM_005589.4(ALDH6A1):c.*1601C>T rs1001370504 0.00040
NM_020686.6(ABAT):c.*2070G>C rs150364609 0.00040
NM_022081.6(HPS4):c.704A>G (p.His235Arg) rs150166679 0.00040
NM_000017.4(ACADS):c.624+8C>T rs371550264 0.00039
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp) rs146379816 0.00039
NM_000045.4(ARG1):c.57G>A (p.Gln19=) rs150766204 0.00039
NM_000108.5(DLD):c.55C>G (p.Arg19Gly) rs144038427 0.00039
NM_000195.5(HPS1):c.700C>T (p.Leu234=) rs150444975 0.00039
NM_000274.4(OAT):c.*61A>G rs530505560 0.00039
NM_000709.4(BCKDHA):c.*20C>A rs370480422 0.00039
NM_001033044.4(GLUL):c.*2516A>G rs140277335 0.00039
NM_001033044.4(GLUL):c.-14+1168C>T rs149699916 0.00039
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139 0.00039
NM_001701.4(BAAT):c.*1139T>G rs188189145 0.00039
NM_001875.5(CPS1):c.2909A>G (p.Asn970Ser) rs150485422 0.00039
NM_002150.3(HPD):c.954+14A>C rs200866898 0.00039
NM_003060.4(SLC22A5):c.1451G>T (p.Gly484Val) rs28383480 0.00039
NM_003060.4(SLC22A5):c.272A>G (p.Asn91Ser) rs546442503 0.00039
NM_003477.3(PDHX):c.749C>T (p.Thr250Ile) rs146876119 0.00039
NM_004531.5(MOCS2):c.*651G>A rs750555510 0.00039
NM_014252.4(SLC25A15):c.*639G>A rs192586176 0.00039
NM_022081.6(HPS4):c.*751G>A rs190837977 0.00039
NM_032383.5(HPS3):c.196C>T (p.Arg66Cys) rs529838933 0.00039
NM_032383.5(HPS3):c.592G>A (p.Val198Ile) rs144990171 0.00039
NM_175914.5(HNF4A):c.*2153T>C rs760628227 0.00039
NM_000071.3(CBS):c.394C>T (p.Arg132Cys) rs140002610 0.00038
NM_000081.4(LYST):c.1655T>C (p.Val552Ala) rs199617821 0.00038
NM_000137.4(FAH):c.462C>A (p.His154Gln) rs144234072 0.00038
NM_000161.3(GCH1):c.*1719C>T rs551251353 0.00038
NM_000162.5(GCK):c.*735C>A rs556996030 0.00038
NM_000275.3(OCA2):c.751G>A (p.Val251Met) rs147432138 0.00038
NM_000290.3(PGAM2):c.-55A>C rs528717273 0.00038
NM_000352.6(ABCC8):c.486C>T (p.Ile162=) rs149872185 0.00038
NM_000429.3(MAT1A):c.170-12G>A rs200462189 0.00038
NM_000550.3(TYRP1):c.914-4G>T rs376740467 0.00038
NM_000709.4(BCKDHA):c.63C>T (p.Ala21=) rs140322984 0.00038
NM_002150.3(HPD):c.*191C>T rs886049036 0.00038
NM_002500.5(NEUROD1):c.*1096T>C rs188774781 0.00038
NM_003597.5(KLF11):c.-104C>T rs886054718 0.00038
NM_005589.4(ALDH6A1):c.1604G>A (p.Arg535His) rs183066442 0.00038
NM_012463.4(ATP6V0A2):c.*2759T>C rs550259483 0.00038
NM_032383.5(HPS3):c.2378T>C (p.Val793Ala) rs144099522 0.00038
NM_000162.5(GCK):c.*764C>T rs185418856 0.00037
NM_000320.3(QDPR):c.450C>T (p.Tyr150=) rs140949360 0.00037
NM_000545.8(HNF1A):c.1539C>T (p.Thr513=) rs193922584 0.00037
NM_001701.4(BAAT):c.*1130A>G rs536464923 0.00037
NM_001701.4(BAAT):c.*1701G>C rs144108294 0.00037
NM_002065.6(GLUL):c.-816C>G rs1033534386 0.00037
NM_002065.6(GLUL):c.-819G>A rs535874660 0.00037
NM_002300.7(LDHB):c.-102C>A rs542962114 0.00037
NM_012463.4(ATP6V0A2):c.954C>T (p.Asp318=) rs75746974 0.00037
NM_016180.5(SLC45A2):c.799G>A (p.Glu267Lys) rs140005143 0.00037
NM_000156.6(GAMT):c.227C>T (p.Ser76Leu) rs150338273 0.00036
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391 0.00036
NM_000195.5(HPS1):c.1887C>T (p.Pro629=) rs142347792 0.00036
NM_000195.5(HPS1):c.473G>A (p.Arg158His) rs140480324 0.00036
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000277.3(PAH):c.609C>T (p.Cys203=) rs1801147 0.00036
NM_000298.6(PKLR):c.*582G>A rs758139094 0.00036
NM_000545.8(HNF1A):c.336G>A (p.Pro112=) rs371365341 0.00036
NM_000550.3(TYRP1):c.1411C>T (p.Arg471Trp) rs138272660 0.00036
NM_000550.3(TYRP1):c.457C>T (p.Arg153Cys) rs146027807 0.00036
NM_000709.4(BCKDHA):c.664G>A (p.Ala222Thr) rs141086188 0.00036
NM_001080.3(ALDH5A1):c.*1033T>C rs755282343 0.00036
NM_001352514.2(HLCS):c.1811G>A (p.Arg604His) rs74574054 0.00036
NM_002108.4(HAL):c.287C>T (p.Ser96Phe) rs142371886 0.00036
NM_002108.4(HAL):c.686C>T (p.Thr229Ile) rs143844261 0.00036
NM_003124.5(SPR):c.*575G>A rs550861892 0.00036
NM_003477.3(PDHX):c.640G>C (p.Glu214Gln) rs146445744 0.00036
NM_012463.4(ATP6V0A2):c.522-9G>A rs189175284 0.00036
NM_032383.5(HPS3):c.158A>G (p.Gln53Arg) rs199663930 0.00036
NM_181507.2(HPS5):c.986-5C>T rs201439984 0.00036
NM_000018.4(ACADVL):c.1581G>A (p.Pro527=) rs149436747 0.00035
NM_000161.3(GCH1):c.206C>T (p.Pro69Leu) rs56127440 0.00035
NM_000187.4(HGD):c.*32G>A rs376051958 0.00035
NM_000277.3(PAH):c.299A>G (p.His100Arg) rs148393887 0.00035
NM_001032386.2(SUOX):c.-85G>A rs773650494 0.00035
NM_001358530.2(MOCS1):c.1752G>A (p.Arg584=) rs77225343 0.00035
NM_001482.2(GATM):c.-274C>T rs745765661 0.00035
NM_001875.5(CPS1):c.1918G>T (p.Ala640Ser) rs142693704 0.00035
NM_002108.4(HAL):c.1724C>T (p.Pro575Leu) rs141674733 0.00035
NM_002860.4(ALDH18A1):c.*734C>A rs184009046 0.00035
NM_004531.5(MOCS2):c.-622G>A rs373522800 0.00035
NM_005327.7(HADH):c.349G>C (p.Val117Leu) rs146732064 0.00035
NM_005589.4(ALDH6A1):c.*1208C>T rs533760077 0.00035
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr) rs143142641 0.00035
NM_022081.6(HPS4):c.*1236G>A rs1356149759 0.00035
NM_032383.5(HPS3):c.*96TC[3] rs1553756780 0.00035
NM_000018.4(ACADVL):c.68G>A (p.Arg23Gln) rs34153370 0.00034
NM_000081.4(LYST):c.2946T>C (p.Tyr982=) rs145892183 0.00034
NM_000161.3(GCH1):c.*1479G>T rs533240612 0.00034
NM_000170.3(GLDC):c.698T>C (p.Val233Ala) rs140013612 0.00034
NM_000178.4(GSS):c.*2G>A rs36000727 0.00034
NM_000178.4(GSS):c.-16G>A rs575728230 0.00034
NM_000182.5(HADHA):c.2113G>A (p.Val705Ile) rs146406360 0.00034
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00034
NM_000290.4(PGAM2):c.501G>T (p.Trp167Cys) rs150235677 0.00034
NM_000298.6(PKLR):c.111G>T (p.Gly37=) rs141341788 0.00034
NM_000360.4(TH):c.1255G>A (p.Val419Met) rs184106392 0.00034
NM_000372.5(TYR):c.*230G>A rs532489606 0.00034
NM_001715.3(BLK):c.*444C>A rs376203568 0.00034
NM_001715.3(BLK):c.879C>T (p.His293=) rs142623841 0.00034
NM_001902.6(CTH):c.15C>A (p.Asp5Glu) rs143859234 0.00034
NM_002108.4(HAL):c.33A>G (p.Glu11=) rs118129111 0.00034
NM_003060.4(SLC22A5):c.*637T>C rs1050858831 0.00034
NM_003748.4(ALDH4A1):c.1073A>G (p.His358Arg) rs145243354 0.00034
NM_004453.4(ETFDH):c.572G>A (p.Gly191Asp) rs147219158 0.00034
NM_004531.5(MOCS2):c.*2357T>C rs183405612 0.00034
NM_016180.5(SLC45A2):c.1518C>T (p.Val506=) rs150473213 0.00034
NM_020686.6(ABAT):c.*2276G>C rs552096436 0.00034
NM_024747.6(HPS6):c.1060C>T (p.His354Tyr) rs149692177 0.00034
NM_183235.3(RAB27A):c.*2415T>C rs749048516 0.00034
NM_000284.4(PDHA1):c.*729G>A rs376808450 0.00033
NM_001033044.4(GLUL):c.-14+1038C>T rs532574396 0.00033
NM_001918.5(DBT):c.*6716C>G rs529415312 0.00033
NM_002108.4(HAL):c.841G>A (p.Ala281Thr) rs140891326 0.00033
NM_002500.5(NEUROD1):c.*283A>G rs535699215 0.00033
NM_002500.5(NEUROD1):c.777C>T (p.Ser259=) rs115027760 0.00033
NM_003597.5(KLF11):c.-146C>T rs886054717 0.00033
NM_004453.4(ETFDH):c.-61C>T rs377679439 0.00033
NM_012463.4(ATP6V0A2):c.1766C>T (p.Pro589Leu) rs149700024 0.00033
NM_014252.4(SLC25A15):c.632C>T (p.Pro211Leu) rs139034961 0.00033
NM_016180.5(SLC45A2):c.1089C>T (p.Tyr363=) rs148156477 0.00033
NM_022081.6(HPS4):c.1947G>A (p.Met649Ile) rs146303784 0.00033
NM_032383.5(HPS3):c.2124C>T (p.Gly708=) rs138987987 0.00033
NM_153006.3(NAGS):c.246G>A (p.Pro82=) rs747154237 0.00033
NM_175914.5(HNF4A):c.1176C>T (p.Asn392=) rs141448616 0.00033
NM_000081.4(LYST):c.8960C>G (p.Pro2987Arg) rs147899661 0.00032
NM_000170.3(GLDC):c.2147T>A (p.Leu716His) rs145018304 0.00032
NM_000275.3(OCA2):c.1364+4C>T rs1800409 0.00032
NM_000290.4(PGAM2):c.119G>A (p.Arg40Gln) rs140545494 0.00032
NM_000481.4(AMT):c.101G>A (p.Arg34His) rs138259479 0.00032
NM_000550.3(TYRP1):c.1263T>C (p.Asp421=) rs150370598 0.00032
NM_001033044.4(GLUL):c.-14+955C>T rs370070318 0.00032
NM_001352514.2(HLCS):c.1621-12T>C rs367728041 0.00032
NM_001918.5(DBT):c.*4291C>A rs1256627350 0.00032
NM_002860.4(ALDH18A1):c.492C>T (p.Ala164=) rs150472102 0.00032
NM_002860.4(ALDH18A1):c.933+13T>C rs201520042 0.00032
NM_003664.5(AP3B1):c.2188C>T (p.Arg730Trp) rs141102178 0.00032
NM_014251.3(SLC25A13):c.1230A>C (p.Thr410=) rs150021522 0.00032
NM_175914.5(HNF4A):c.*2992C>T rs770250175 0.00032
NM_181507.2(HPS5):c.2721A>G (p.Ser907=) rs139795577 0.00032
NM_000016.6(ACADM):c.1091T>C (p.Ile364Thr) rs150710061 0.00031
NM_000045.4(ARG1):c.-21A>C rs370747314 0.00031
NM_000081.4(LYST):c.2313G>A (p.Gln771=) rs147220685 0.00031
NM_000161.3(GCH1):c.*1130C>G rs543818323 0.00031
NM_000170.3(GLDC):c.*235T>G rs749941145 0.00031
NM_000170.3(GLDC):c.1000T>C (p.Phe334Leu) rs149133229 0.00031
NM_000182.5(HADHA):c.1689+11C>T rs367640259 0.00031
NM_000182.5(HADHA):c.79C>T (p.Arg27Cys) rs143832445 0.00031
NM_000187.4(HGD):c.1102A>G (p.Met368Val) rs120074173 0.00031
NM_000289.5(PFKM):c.-174G>A rs765876195 0.00031
NM_000365.6(TPI1):c.*388C>T rs540279409 0.00031
NM_000481.4(AMT):c.825T>A (p.Asn275Lys) rs144241950 0.00031
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_002065.6(GLUL):c.-778G>T rs796811056 0.00031
NM_002108.4(HAL):c.345G>A (p.Glu115=) rs188783496 0.00031
NM_004531.5(MOCS2):c.*372G>A rs753919594 0.00031
NM_005589.4(ALDH6A1):c.151T>C (p.Ser51Pro) rs61745707 0.00031
NM_054012.4(ASS1):c.333C>T (p.Ala111=) rs141568959 0.00031
NM_058179.4(PSAT1):c.*498C>T rs573775683 0.00031
NM_183235.3(RAB27A):c.418C>G (p.Gln140Glu) rs150463407 0.00031
NM_000298.6(PKLR):c.*1041C>T rs528740550 0.00030
NM_000298.6(PKLR):c.1552C>T (p.Arg518Cys) rs139002629 0.00030
NM_000687.4(AHCY):c.882C>G (p.Ala294=) rs376464023 0.00030
NM_001033044.4(GLUL):c.*1919A>G rs886045604 0.00030
NM_001080.3(ALDH5A1):c.*1221C>T rs376290382 0.00030
NM_001080.3(ALDH5A1):c.*7T>C rs199767765 0.00030
NM_005271.5(GLUD1):c.*1379C>T rs181813972 0.00030
NM_006623.4(PHGDH):c.296C>G (p.Pro99Arg) rs182600362 0.00030
NM_014251.3(SLC25A13):c.*93G>A rs537886271 0.00030
NM_020686.6(ABAT):c.684G>A (p.Thr228=) rs148143485 0.00030
NM_022081.6(HPS4):c.1747G>A (p.Glu583Lys) rs145481980 0.00030
NM_000017.4(ACADS):c.*266G>T rs537512881 0.00029
NM_000018.4(ACADVL):c.1678+15C>T rs371402802 0.00029
NM_000045.4(ARG1):c.594T>C (p.Phe198=) rs149496218 0.00029
NM_000071.3(CBS):c.1479G>A (p.Thr493=) rs143225442 0.00029
NM_000071.3(CBS):c.600G>A (p.Pro200=) rs181472622 0.00029
NM_000081.4(LYST):c.2963G>A (p.Arg988Gln) rs150953050 0.00029
NM_000081.4(LYST):c.3394-14T>C rs372892911 0.00029
NM_000096.4(CP):c.*373C>G rs370247691 0.00029
NM_000108.5(DLD):c.763A>C (p.Met255Leu) rs533405046 0.00029
NM_000161.3(GCH1):c.507G>A (p.Ala169=) rs150158277 0.00029
NM_000320.3(QDPR):c.*103C>T rs117036858 0.00029
NM_000353.3(TAT):c.1046A>G (p.Asn349Ser) rs138304751 0.00029
NM_000360.4(TH):c.406G>A (p.Val136Met) rs142046543 0.00029
NM_000458.4(HNF1B):c.*445A>G rs571607314 0.00029
NM_000525.4(KCNJ11):c.843C>T (p.Leu281=) rs116392938 0.00029
NM_000687.4(AHCY):c.855-8C>T rs370059571 0.00029
NM_000709.4(BCKDHA):c.294G>A (p.Pro98=) rs142967869 0.00029
NM_001032386.2(SUOX):c.-11+1613C>T rs139170103 0.00029
NM_001352514.2(HLCS):c.*2771C>T rs746169122 0.00029
NM_001352514.2(HLCS):c.*430T>C rs186680398 0.00029
NM_001875.5(CPS1):c.1116C>T (p.Phe372=) rs200465544 0.00029
NM_001918.5(DBT):c.*9123A>G rs79752201 0.00029
NM_002108.4(HAL):c.*1409G>A rs141219113 0.00029
NM_002500.5(NEUROD1):c.738G>A (p.Pro246=) rs115207271 0.00029
NM_003060.4(SLC22A5):c.287G>C (p.Gly96Ala) rs377767450 0.00029
NM_003597.5(KLF11):c.*2273C>T rs534714754 0.00029
NM_005589.4(ALDH6A1):c.*2491G>T rs181822532 0.00029
NM_005589.4(ALDH6A1):c.*567C>T rs75199385 0.00029
NM_014252.4(SLC25A15):c.-41G>A rs375382325 0.00029
NM_014252.4(SLC25A15):c.345C>T (p.Phe115=) rs35434090 0.00029
NM_016180.5(SLC45A2):c.-7A>G rs371592288 0.00029
NM_024747.6(HPS6):c.1363T>C (p.Leu455=) rs144777687 0.00029
NM_175914.5(HNF4A):c.*764C>T rs537782818 0.00029
NM_000137.4(FAH):c.1062+5G>A rs80338901 0.00028
NM_000156.6(GAMT):c.279C>T (p.Asp93=) rs144630886 0.00028
NM_000170.3(GLDC):c.2874C>T (p.Ser958=) rs146339375 0.00028
NM_000182.5(HADHA):c.1690-13G>A rs368557552 0.00028
NM_000277.3(PAH):c.-104C>T rs767107144 0.00028
NM_000360.4(TH):c.67G>A (p.Ala23Thr) rs201081519 0.00028
NM_000429.3(MAT1A):c.*1727G>A rs78196299 0.00028
NM_000545.8(HNF1A):c.*1044G>A rs1039799815 0.00028
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg) rs202039659 0.00028
NM_000709.3(BCKDHA):c.-25G>C rs202084220 0.00028
NM_000784.4(CYP27A1):c.*47G>A rs140059093 0.00028
NM_001715.2(BLK):c.-209C>T rs559867785 0.00028
NM_005589.4(ALDH6A1):c.*1887A>C rs566580516 0.00028
NM_014251.3(SLC25A13):c.*622C>T rs575375923 0.00028
NM_014251.3(SLC25A13):c.1088G>T (p.Gly363Val) rs35996658 0.00028
NM_032383.5(HPS3):c.2196C>T (p.His732=) rs148398659 0.00028
NM_054012.4(ASS1):c.1015G>A (p.Ala339Thr) rs145100866 0.00028
NM_181507.2(HPS5):c.1692T>C (p.Pro564=) rs150590027 0.00028
NM_000081.4(LYST):c.368A>G (p.His123Arg) rs3768067 0.00027
NM_000126.4(ETFA):c.20C>T (p.Pro7Leu) rs557160401 0.00027
NM_000161.3(GCH1):c.*612C>T rs551381738 0.00027
NM_000187.4(HGD):c.221A>T (p.Glu74Val) rs141965690 0.00027
NM_000360.4(TH):c.627C>G (p.Ile209Met) rs202149985 0.00027
NM_000550.3(TYRP1):c.208G>A (p.Ala70Thr) rs61752864 0.00027
NM_001032386.2(SUOX):c.1050T>C (p.Tyr350=) rs184819190 0.00027
NM_003664.5(AP3B1):c.303C>T (p.Tyr101=) rs115747826 0.00027
NM_024747.6(HPS6):c.-5G>A rs376684120 0.00027
NM_181507.2(HPS5):c.*812A>C rs755078355 0.00027
NM_000018.4(ACADVL):c.1533-4T>A rs369986567 0.00026
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn) rs28934891 0.00026
NM_000081.4(LYST):c.6487G>A (p.Ala2163Thr) rs201513511 0.00026
NM_000081.4(LYST):c.7368T>C (p.Asn2456=) rs199631995 0.00026
NM_000187.3(HGD):c.-221G>A rs535973482 0.00026
NM_000274.4(OAT):c.*311T>C rs753216934 0.00026
NM_000275.3(OCA2):c.144G>A (p.Ser48=) rs374819923 0.00026
NM_000275.3(OCA2):c.1503+7A>T rs199875420 0.00026
NM_000284.4(PDHA1):c.396A>C (p.Arg132=) rs757654963 0.00026
NM_000290.4(PGAM2):c.290G>A (p.Gly97Asp) rs77938727 0.00026
NM_000298.6(PKLR):c.6G>A (p.Ser2=) rs139697646 0.00026
NM_000320.3(QDPR):c.*612T>C rs776067259 0.00026
NM_000458.4(HNF1B):c.*629C>T rs566057658 0.00026
NM_000525.4(KCNJ11):c.-154G>T rs539975714 0.00026
NM_001033044.4(GLUL):c.*2074G>A rs185466076 0.00026
NM_001033044.4(GLUL):c.880C>T (p.Leu294=) rs199824213 0.00026
NM_001352514.2(HLCS):c.*1084C>T rs530869762 0.00026
NM_001352514.2(HLCS):c.1073C>T (p.Thr358Met) rs142524025 0.00026
NM_001358530.2(MOCS1):c.*400C>T rs764443066 0.00026
NM_001875.5(CPS1):c.1569A>G (p.Arg523=) rs140475976 0.00026
NM_001918.5(DBT):c.*1322C>T rs941752024 0.00026
NM_001918.5(DBT):c.*347C>T rs372982170 0.00026
NM_002108.4(HAL):c.25C>T (p.Arg9Cys) rs201646460 0.00026
NM_003597.5(KLF11):c.*216_*217insTT rs1553314463 0.00026
NM_003748.4(ALDH4A1):c.1377G>C (p.Pro459=) rs146222625 0.00026
NM_005518.4(HMGCS2):c.634G>A (p.Gly212Arg) rs137852638 0.00026
NM_006623.4(PHGDH):c.1471C>T (p.Arg491Trp) rs587731325 0.00026
NM_012463.4(ATP6V0A2):c.*2198C>T rs886049073 0.00026
NM_012463.4(ATP6V0A2):c.309G>T (p.Lys103Asn) rs144499089 0.00026
NM_016180.5(SLC45A2):c.1516G>A (p.Val506Ile) rs138338197 0.00026
NM_020686.6(ABAT):c.-107G>A rs531589337 0.00026
NM_022081.6(HPS4):c.931C>A (p.Pro311Thr) rs140732502 0.00026
NM_032383.5(HPS3):c.1330C>A (p.His444Asn) rs138303522 0.00026
NM_032383.5(HPS3):c.1403C>T (p.Ser468Leu) rs371551313 0.00026
NM_175914.5(HNF4A):c.*1395C>T rs568456380 0.00026
NM_175914.5(HNF4A):c.*547G>A rs1031904976 0.00026
NM_183050.4(BCKDHB):c.744G>A (p.Ala248=) rs147719822 0.00026
NM_000071.3(CBS):c.919G>A (p.Gly307Ser) rs121964962 0.00025
NM_000081.4(LYST):c.4578T>A (p.Asn1526Lys) rs117609949 0.00025
NM_000108.5(DLD):c.*1736T>C rs190655078 0.00025
NM_000429.3(MAT1A):c.*1820G>A rs552103645 0.00025
NM_001080.3(ALDH5A1):c.*1485C>T rs745486717 0.00025
NM_001352514.2(HLCS):c.*2541C>T rs184935954 0.00025
NM_001358530.2(MOCS1):c.*1857G>A rs193217053 0.00025
NM_001366110.1(PAX4):c.14-182G>A rs886061971 0.00025
NM_001902.6(CTH):c.*371G>A rs183166406 0.00025
NM_001918.5(DBT):c.*4507T>C rs762813875 0.00025
NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val) rs143802431 0.00025
NM_022081.6(HPS4):c.-42A>G rs369803062 0.00025
NM_032383.5(HPS3):c.1136C>T (p.Thr379Met) rs149620802 0.00025
NM_175914.5(HNF4A):c.439G>A (p.Val147Ile) rs142204928 0.00025
NM_000016.5(ACADM):c.-403C>T rs886046518 0.00024
NM_000108.5(DLD):c.*845G>A rs750426584 0.00024
NM_000170.3(GLDC):c.-31C>A rs964863986 0.00024
NM_000195.5(HPS1):c.-91T>A rs542654066 0.00024
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe) rs1800408 0.00024
NM_000284.4(PDHA1):c.-79C>T rs942040058 0.00024
NM_000352.6(ABCC8):c.105G>A (p.Pro35=) rs199925058 0.00024
NM_000352.6(ABCC8):c.1630+8C>T rs200053398 0.00024
NM_000360.4(TH):c.1334+3G>C rs371566928 0.00024
NM_000372.5(TYR):c.454C>T (p.Pro152Ser) rs145513733 0.00024
NM_000387.6(SLC25A20):c.358T>C (p.Ser120Pro) rs149174359 0.00024
NM_000481.4(AMT):c.152C>T (p.Ala51Val) rs34812788 0.00024
NM_000481.4(AMT):c.635T>C (p.Val212Ala) rs201141125 0.00024
NM_000545.8(HNF1A):c.586A>G (p.Thr196Ala) rs139712739 0.00024
NM_000709.4(BCKDHA):c.744C>T (p.Ala248=) rs137960127 0.00024
NM_001033044.4(GLUL):c.*1057A>G rs571517535 0.00024
NM_001243177.4(ALDOA):c.*96C>T rs886051897 0.00024
NM_001352514.2(HLCS):c.*1324T>C rs141644229 0.00024
NM_001358530.2(MOCS1):c.264G>A (p.Met88Ile) rs144238782 0.00024
NM_001715.3(BLK):c.368+13G>A rs199644751 0.00024
NM_001715.3(BLK):c.980A>T (p.Asp327Val) rs138333004 0.00024
NM_001902.6(CTH):c.*370C>T rs868533214 0.00024
NM_001918.5(DBT):c.*5877G>C rs562874757 0.00024
NM_001918.5(DBT):c.*7698C>T rs185528579 0.00024
NM_002108.4(HAL):c.724C>A (p.Leu242Met) rs145831585 0.00024
NM_002860.4(ALDH18A1):c.1153-13A>G rs370680325 0.00024
NM_003124.5(SPR):c.369C>T (p.Tyr123=) rs146349901 0.00024
NM_003664.5(AP3B1):c.1168-9C>T rs367648410 0.00024
NM_003664.5(AP3B1):c.2310C>T (p.Asp770=) rs142938290 0.00024
NM_004453.4(ETFDH):c.*53del rs753793193 0.00024
NM_005271.5(GLUD1):c.*1419T>G rs895697576 0.00024
NM_005518.4(HMGCS2):c.570C>T (p.Ala190=) rs201735169 0.00024
NM_006721.4(ADK):c.429C>T (p.Cys143=) rs142477111 0.00024
NM_012463.4(ATP6V0A2):c.*1803C>T rs117646592 0.00024
NM_024747.6(HPS6):c.1035G>A (p.Arg345=) rs374860183 0.00024
NM_032383.5(HPS3):c.1821C>G (p.Ile607Met) rs148168280 0.00024
NM_058179.4(PSAT1):c.700G>T (p.Ala234Ser) rs145496413 0.00024
NM_181507.2(HPS5):c.*688A>G rs145507598 0.00024
NM_000161.3(GCH1):c.69C>T (p.Pro23=) rs767294964 0.00023
NM_000162.5(GCK):c.-102G>A rs781377703 0.00023
NM_000274.4(OAT):c.-12T>G rs775990544 0.00023
NM_000277.3(PAH):c.1161C>T (p.Tyr387=) rs149595475 0.00023
NM_000277.3(PAH):c.165T>G (p.Phe55Leu) rs199475598 0.00023
NM_000284.4(PDHA1):c.894A>G (p.Gly298=) rs1329322647 0.00023
NM_000290.4(PGAM2):c.288A>G (p.Thr96=) rs139561812 0.00023
NM_000360.4(TH):c.1368C>T (p.Ser456=) rs45538536 0.00023
NM_001033044.4(GLUL):c.*2494G>T rs77070600 0.00023
NM_001080.3(ALDH5A1):c.*1230T>G rs778833032 0.00023
NM_001918.5(DBT):c.1210-8A>T rs535837017 0.00023
NM_002065.6(GLUL):c.-564C>A rs760794180 0.00023
NM_002500.5(NEUROD1):c.750C>A (p.Ser250Arg) rs201293992 0.00023
NM_003060.4(SLC22A5):c.-26G>A rs369724970 0.00023
NM_003060.4(SLC22A5):c.1643G>A (p.Arg548Lys) rs150775371 0.00023
NM_003597.5(KLF11):c.1102C>T (p.Pro368Ser) rs144897109 0.00023
NM_003597.5(KLF11):c.1448C>T (p.Pro483Leu) rs201735305 0.00023
NM_022081.6(HPS4):c.1192A>C (p.Arg398=) rs375655372 0.00023
NM_024747.6(HPS6):c.1039G>A (p.Val347Ile) rs139517839 0.00023
NM_054012.4(ASS1):c.240C>T (p.Ser80=) rs147910468 0.00023
NM_181507.2(HPS5):c.*95C>A rs776484868 0.00023
NM_183050.4(BCKDHB):c.*574A>G rs527284649 0.00023
NM_212552.3(BOLA3):c.137G>A (p.Arg46Gln) rs144366005 0.00023
NM_000081.4(LYST):c.2754G>A (p.Glu918=) rs373577384 0.00022
NM_000081.4(LYST):c.8214G>C (p.Glu2738Asp) rs140944484 0.00022
NM_000108.5(DLD):c.321A>G (p.Ala107=) rs138398782 0.00022
NM_000137.4(FAH):c.747A>G (p.Pro249=) rs138757552 0.00022
NM_000187.4(HGD):c.8A>C (p.Glu3Ala) rs200412910 0.00022
NM_000195.5(HPS1):c.507+13C>T rs371779884 0.00022
NM_000275.3(OCA2):c.-109T>C rs886051027 0.00022
NM_000289.6(PFKM):c.*452T>C rs563335260 0.00022
NM_000289.6(PFKM):c.2201A>G (p.His734Arg) rs141570669 0.00022
NM_000290.4(PGAM2):c.707A>C (p.Glu236Ala) rs140230479 0.00022
NM_000298.6(PKLR):c.965+12G>A rs200039500 0.00022
NM_000360.4(TH):c.12C>T (p.Pro4=) rs147131010 0.00022
NM_000372.5(TYR):c.1446G>C (p.Ala482=) rs3913543 0.00022
NM_000387.6(SLC25A20):c.-2C>A rs368937335 0.00022
NM_000429.3(MAT1A):c.712G>A (p.Glu238Lys) rs116528173 0.00022
NM_000481.4(AMT):c.697-3C>T rs373703503 0.00022
NM_000545.8(HNF1A):c.*170C>T rs547080919 0.00022
NM_000784.4(CYP27A1):c.*195G>C rs886055632 0.00022
NM_001358530.2(MOCS1):c.*1808G>A rs752267060 0.00022
NM_001366110.1(PAX4):c.260G>A (p.Arg87Gln) rs115923648 0.00022
NM_001370658.1(BTD):c.-148C>T rs774964227 0.00022
NM_001715.3(BLK):c.1349G>A (p.Arg450His) rs202162624 0.00022
NM_002300.8(LDHB):c.749A>G (p.Asn250Ser) rs144739734 0.00022
NM_005271.5(GLUD1):c.*970A>G rs760207211 0.00022
NM_005566.4(LDHA):c.*817A>C rs527401531 0.00022
NM_005589.4(ALDH6A1):c.97T>A (p.Phe33Ile) rs182720934 0.00022
NM_016180.5(SLC45A2):c.1157-10C>T rs371152353 0.00022
NM_022081.5(HPS4):c.-622G>C rs886057324 0.00022
NM_054012.4(ASS1):c.-4C>T rs138350285 0.00022
NM_183235.3(RAB27A):c.*1156T>G rs747438491 0.00022
NM_183235.3(RAB27A):c.560G>A (p.Arg187Gln) rs182849552 0.00022
NM_000081.4(LYST):c.3898A>G (p.Ile1300Val) rs199855658 0.00021
NM_000081.4(LYST):c.4006+8G>A rs369153654 0.00021
NM_000081.4(LYST):c.9045-13T>C rs181450025 0.00021
NM_000182.5(HADHA):c.*586G>A rs749568626 0.00021
NM_000182.5(HADHA):c.2175C>T (p.Gly725=) rs375399631 0.00021
NM_000289.6(PFKM):c.820A>G (p.Ile274Val) rs142868881 0.00021
NM_000298.6(PKLR):c.507G>A (p.Gly169=) rs201674983 0.00021
NM_000372.5(TYR):c.1065G>A (p.Ala355=) rs1800421 0.00021
NM_000429.3(MAT1A):c.*1858T>C rs150070127 0.00021
NM_000481.3(AMT):c.-136T>C rs750502117 0.00021
NM_000709.4(BCKDHA):c.1251C>T (p.Pro417=) rs147021347 0.00021
NM_000709.4(BCKDHA):c.125A>G (p.Gln42Arg) rs150177278 0.00021
NM_001080.3(ALDH5A1):c.50C>T (p.Ser17Leu) rs753168976 0.00021
NM_001701.4(BAAT):c.*426A>G rs770039694 0.00021
NM_001715.3(BLK):c.424A>G (p.Ile142Val) rs562247916 0.00021
NM_001875.5(CPS1):c.234A>G (p.Gly78=) rs182678639 0.00021
NM_001875.5(CPS1):c.5C>T (p.Thr2Met) rs150314086 0.00021
NM_001918.5(DBT):c.*2092A>T rs1055914530 0.00021
NM_001918.5(DBT):c.*5875T>G rs761370134 0.00021
NM_002108.4(HAL):c.*1119dup rs886049896 0.00021
NM_003477.3(PDHX):c.1333T>G (p.Phe445Val) rs147948716 0.00021
NM_003477.3(PDHX):c.542+10T>C rs368960575 0.00021
NM_003597.5(KLF11):c.*1155G>A rs886054729 0.00021
NM_003597.5(KLF11):c.*654C>T rs144723641 0.00021
NM_004531.5(MOCS2):c.*837T>C rs546218674 0.00021
NM_005566.4(LDHA):c.777G>A (p.Leu259=) rs137996815 0.00021
NM_006623.4(PHGDH):c.412-15C>T rs368681081 0.00021
NM_012463.4(ATP6V0A2):c.*271A>G rs886049064 0.00021
NM_012463.4(ATP6V0A2):c.2014T>C (p.Leu672=) rs367950442 0.00021
NM_012463.4(ATP6V0A2):c.447T>C (p.Tyr149=) rs140835376 0.00021
NM_020166.5(MCCC1):c.2171C>T (p.Ser724Leu) rs201806708 0.00021
NM_020686.6(ABAT):c.*1704G>C rs752676943 0.00021
NM_020686.6(ABAT):c.*989T>C rs533930699 0.00021
NM_022081.6(HPS4):c.-568T>A rs1023210861 0.00021
NM_022081.6(HPS4):c.133-6C>T rs571184796 0.00021
NM_181507.2(HPS5):c.*362G>A rs148862838 0.00021
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu) rs28941773 0.00020
NM_000071.3(CBS):c.856A>G (p.Ile286Val) rs147040567 0.00020
NM_000081.4(LYST):c.10477T>C (p.Phe3493Leu) rs200511787 0.00020
NM_000108.5(DLD):c.*1092C>T rs546777301 0.00020
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679 0.00020
NM_000353.3(TAT):c.*863G>A rs185984423 0.00020
NM_000545.8(HNF1A):c.*1165C>T rs927067298 0.00020
NM_000545.8(HNF1A):c.1377G>A (p.Leu459=) rs118028009 0.00020
NM_000687.4(AHCY):c.*583G>C rs552690185 0.00020
NM_001080.3(ALDH5A1):c.1344-6T>C rs368212282 0.00020
NM_001875.5(CPS1):c.4404+4T>A rs199739254 0.00020
NM_001918.5(DBT):c.*4250C>T rs774122510 0.00020
NM_002500.5(NEUROD1):c.*548T>A rs886055324 0.00020
NM_004531.5(MOCS2):c.*344C>T rs755058697 0.00020
NM_005327.7(HADH):c.*514A>G rs183594888 0.00020
NM_005518.4(HMGCS2):c.1124C>G (p.Ser375Cys) rs151328418 0.00020
NM_005589.4(ALDH6A1):c.*991G>A rs945903840 0.00020
NM_022081.6(HPS4):c.834T>A (p.Asp278Glu) rs139107954 0.00020
NM_024747.6(HPS6):c.1346C>G (p.Ser449Cys) rs141068948 0.00020
NM_058179.4(PSAT1):c.*554G>A rs376749590 0.00020
NM_183050.4(BCKDHB):c.*1315G>A rs760136719 0.00020
NM_183050.4(BCKDHB):c.*2072C>T rs183153737 0.00020
NM_183050.4(BCKDHB):c.*921C>T rs542630714 0.00020
NM_000045.3(ARG1):c.-70A>G rs192353153 0.00019
NM_000137.4(FAH):c.-23A>C rs200127538 0.00019
NM_000156.6(GAMT):c.328-10C>T rs371511930 0.00019
NM_000170.3(GLDC):c.1530G>A (p.Gly510=) rs145665442 0.00019
NM_000170.3(GLDC):c.2570-10T>C rs373987254 0.00019
NM_000274.4(OAT):c.107G>C (p.Gly36Ala) rs140786333 0.00019
NM_000275.3(OCA2):c.106C>T (p.Arg36Cys) rs148066812 0.00019
NM_000275.3(OCA2):c.1160C>T (p.Thr387Met) rs150335311 0.00019
NM_000277.3(PAH):c.*272C>T rs928972999 0.00019
NM_000277.3(PAH):c.399T>C (p.Asn133=) rs145692106 0.00019
NM_000298.6(PKLR):c.*499G>A rs777573500 0.00019
NM_000298.6(PKLR):c.*866T>C rs886045347 0.00019
NM_000352.6(ABCC8):c.1678G>A (p.Val560Met) rs4148619 0.00019
NM_000353.3(TAT):c.*219G>A rs183020305 0.00019
NM_000353.3(TAT):c.*30C>A rs375492740 0.00019
NM_000360.4(TH):c.1423G>A (p.Val475Met) rs147585774 0.00019
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314 0.00019
NM_000545.8(HNF1A):c.*447T>A rs143731661 0.00019
NM_000709.4(BCKDHA):c.*314A>G rs535136507 0.00019
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=) rs143600636 0.00019
NM_001032386.2(SUOX):c.*496T>C rs569168288 0.00019
NM_001033044.4(GLUL):c.*1033G>C rs186333925 0.00019
NM_001080.3(ALDH5A1):c.831G>A (p.Val277=) rs138912422 0.00019
NM_001243177.4(ALDOA):c.1068C>T (p.Tyr356=) rs200761497 0.00019
NM_001352514.2(HLCS):c.*1852G>T rs551457805 0.00019
NM_003597.5(KLF11):c.*1658G>A rs367805998 0.00019
NM_003597.5(KLF11):c.*674G>C rs574996537 0.00019
NM_003597.5(KLF11):c.546C>A (p.Ser182Arg) rs142266428 0.00019
NM_003748.4(ALDH4A1):c.150G>A (p.Leu50=) rs201605414 0.00019
NM_004531.5(MOCS2):c.*122G>A rs967379249 0.00019
NM_004531.5(MOCS2):c.*143G>A rs2233223 0.00019
NM_004577.3(PSPH):c.-683G>C rs148855313 0.00019
NM_004577.3(PSPH):c.-708C>A rs187219685 0.00019
NM_004577.4(PSPH):c.*457C>T rs1318551050 0.00019
NM_004577.4(PSPH):c.-485A>G rs530804173 0.00019
NM_006623.4(PHGDH):c.1258G>A (p.Glu420Lys) rs140979375 0.00019
NM_012463.4(ATP6V0A2):c.1430A>T (p.Asn477Ile) rs532258057 0.00019
NM_014251.3(SLC25A13):c.*792C>T rs574119069 0.00019
NM_014251.3(SLC25A13):c.1354G>A (p.Val452Ile) rs143877538 0.00019
NM_016180.5(SLC45A2):c.606G>C (p.Trp202Cys) rs146802593 0.00019
NM_024747.6(HPS6):c.541A>G (p.Thr181Ala) rs144257610 0.00019
NM_054012.4(ASS1):c.299G>A (p.Arg100His) rs138279074 0.00019
NM_175914.5(HNF4A):c.*3013A>G rs773868595 0.00019
NM_181507.2(HPS5):c.1900G>A (p.Glu634Lys) rs143204089 0.00019
NM_181507.2(HPS5):c.2200C>T (p.Arg734Trp) rs752089199 0.00019
NM_181507.2(HPS5):c.3297C>T (p.Cys1099=) rs139039126 0.00019
NM_183050.4(BCKDHB):c.63G>T (p.Gly21=) rs368345065 0.00019
NM_183050.4(BCKDHB):c.987C>T (p.His329=) rs138670449 0.00019
NM_000016.6(ACADM):c.-29T>C rs763024539 0.00018
NM_000170.3(GLDC):c.1581-5C>T rs184463452 0.00018
NM_000178.4(GSS):c.*31C>T rs369754600 0.00018
NM_000191.3(HMGCL):c.*338G>C rs988536831 0.00018
NM_000275.3(OCA2):c.727C>T (p.Arg243Cys) rs138065338 0.00018
NM_000284.4(PDHA1):c.*1306G>A rs745566169 0.00018
NM_000284.4(PDHA1):c.784G>A (p.Val262Ile) rs202166915 0.00018
NM_000365.6(TPI1):c.*178G>A rs144171030 0.00018
NM_000372.5(TYR):c.242C>T (p.Pro81Leu) rs28940876 0.00018
NM_000481.4(AMT):c.1136A>C (p.Glu379Ala) rs201189946 0.00018
NM_000525.4(KCNJ11):c.354G>A (p.Ser118=) rs140636367 0.00018
NM_000531.6(OTC):c.582C>T (p.Ile194=) rs200564773 0.00018
NM_001080.3(ALDH5A1):c.518G>A (p.Arg173His) rs369366567 0.00018
NM_001352514.2(HLCS):c.*3156A>G rs886738924 0.00018
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln) rs147474255 0.00018
NM_001875.5(CPS1):c.3626T>C (p.Met1209Thr) rs200569046 0.00018
NM_002108.4(HAL):c.493G>A (p.Gly165Ser) rs137949606 0.00018
NM_002500.5(NEUROD1):c.*454C>T rs923588837 0.00018
NM_003060.4(SLC22A5):c.*1244C>T rs184494469 0.00018
NM_003060.4(SLC22A5):c.1377A>G (p.Arg459=) rs142264458 0.00018
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met) rs114269482 0.00018
NM_014049.5(ACAD9):c.*221C>T rs189130789 0.00018
NM_014251.3(SLC25A13):c.-127G>A rs886062532 0.00018
NM_020686.6(ABAT):c.*2284A>C rs984367608 0.00018
NM_000081.4(LYST):c.2700A>G (p.Leu900=) rs111463684 0.00017
NM_000156.6(GAMT):c.327G>A (p.Lys109=) rs80338735 0.00017
NM_000360.4(TH):c.679G>A (p.Glu227Lys) rs536382000 0.00017
NM_000372.5(TYR):c.915C>A (p.Asp305Glu) rs142170797 0.00017
NM_000429.3(MAT1A):c.-63C>T rs886047321 0.00017
NM_000481.4(AMT):c.*424G>C rs746995778 0.00017
NM_000531.6(OTC):c.*106G>A rs766318571 0.00017
NM_000545.8(HNF1A):c.693G>A (p.Thr231=) rs145240086 0.00017
NM_000925.4(PDHB):c.*201T>C rs375277648 0.00017
NM_001032386.2(SUOX):c.51-14G>A rs141432255 0.00017
NM_001032386.2(SUOX):c.574C>T (p.Arg192Trp) rs139444405 0.00017
NM_001080.3(ALDH5A1):c.*1249T>A rs149522807 0.00017
NM_001715.3(BLK):c.*209C>G rs544690947 0.00017
NM_001875.5(CPS1):c.3057T>C (p.Thr1019=) rs150601728 0.00017
NM_001918.5(DBT):c.*9153_*9156del rs780877675 0.00017
NM_002065.6(GLUL):c.-529G>T rs1055830880 0.00017
NM_003060.4(SLC22A5):c.852C>T (p.Leu284=) rs146185976 0.00017
NM_003477.3(PDHX):c.1129A>G (p.Ile377Val) rs75430333 0.00017
NM_003597.5(KLF11):c.*982G>A rs550807244 0.00017
NM_003664.5(AP3B1):c.*482C>T rs538570213 0.00017
NM_003748.4(ALDH4A1):c.*646G>A rs567528405 0.00017
NM_005327.7(HADH):c.809C>T (p.Thr270Met) rs577954688 0.00017
NM_005589.4(ALDH6A1):c.112-15G>T rs752587472 0.00017
NM_018368.4(LMBRD1):c.430A>G (p.Thr144Ala) rs12214456 0.00017
NM_020686.6(ABAT):c.*1142G>T rs574524165 0.00017
NM_022081.6(HPS4):c.1680G>A (p.Pro560=) rs527653764 0.00017
NM_000016.6(ACADM):c.*44T>C rs374993494 0.00016
NM_000017.4(ACADS):c.465C>T (p.Ser155=) rs141492002 0.00016
NM_000081.4(LYST):c.6291C>T (p.Ala2097=) rs199857997 0.00016
NM_000108.5(DLD):c.860G>A (p.Gly287Glu) rs202125745 0.00016
NM_000137.4(FAH):c.150T>C (p.Phe50=) rs186471906 0.00016
NM_000137.4(FAH):c.741C>T (p.Leu247=) rs145851627 0.00016
NM_000170.3(GLDC):c.700C>G (p.Gln234Glu) rs150698281 0.00016
NM_000182.5(HADHA):c.325G>A (p.Ala109Thr) rs368388214 0.00016
NM_000187.4(HGD):c.481G>A (p.Gly161Arg) rs28941783 0.00016
NM_000277.3(PAH):c.*79G>A rs569495604 0.00016
NM_000284.4(PDHA1):c.*1458C>T rs923765752 0.00016
NM_000290.4(PGAM2):c.-32dup rs554686318 0.00016
NM_000352.6(ABCC8):c.4431C>T (p.Gly1477=) rs145673861 0.00016
NM_000360.4(TH):c.-18G>A rs370306636 0.00016
NM_000372.5(TYR):c.573A>G (p.Gly191=) rs372123800 0.00016
NM_000429.3(MAT1A):c.*99A>T rs1065766 0.00016
NM_000458.4(HNF1B):c.*403A>G rs557216745 0.00016
NM_000481.4(AMT):c.*163G>C rs200568631 0.00016
NM_000525.4(KCNJ11):c.*546G>A rs886048037 0.00016
NM_000709.4(BCKDHA):c.1211A>G (p.Asn404Ser) rs148090804 0.00016
NM_000709.4(BCKDHA):c.420G>A (p.Thr140=) rs143608852 0.00016
NM_000784.4(CYP27A1):c.1017+5G>A rs370304209 0.00016
NM_000784.4(CYP27A1):c.1184+9G>T rs200457116 0.00016
NM_000784.4(CYP27A1):c.504A>T (p.Pro168=) rs142623022 0.00016
NM_001002755.4(NFU1):c.62+10G>A rs773351968 0.00016
NM_001032386.2(SUOX):c.-58C>A rs886049679 0.00016
NM_001033044.4(GLUL):c.347C>T (p.Thr116Ile) rs144782603 0.00016
NM_001080.3(ALDH5A1):c.*2097C>T rs773800021 0.00016
NM_001080.3(ALDH5A1):c.*2737G>A rs146569813 0.00016
NM_001352514.2(HLCS):c.*2069T>C rs540511044 0.00016
NM_001358530.2(MOCS1):c.520G>A (p.Ala174Thr) rs143573353 0.00016
NM_001715.3(BLK):c.93A>G (p.Gln31=) rs369109733 0.00016
NM_001875.5(CPS1):c.*976C>T rs763063376 0.00016
NM_002108.4(HAL):c.1793C>T (p.Pro598Leu) rs143935341 0.00016
NM_003060.4(SLC22A5):c.1043T>C (p.Ile348Thr) rs150544263 0.00016
NM_003060.4(SLC22A5):c.904A>G (p.Lys302Glu) rs75783492 0.00016
NM_003597.5(KLF11):c.*956C>T rs149067484 0.00016
NM_004577.4(PSPH):c.*12G>A rs376164457 0.00016
NM_005271.5(GLUD1):c.1402+10G>A rs202067232 0.00016
NM_005518.4(HMGCS2):c.851-14G>A rs188523700 0.00016
NM_005566.4(LDHA):c.*129A>G rs199722017 0.00016
NM_005589.4(ALDH6A1):c.*839T>G rs765576515 0.00016
NM_006623.4(PHGDH):c.1257G>A (p.Gly419=) rs374303746 0.00016
NM_006721.4(ADK):c.*349T>C rs896781492 0.00016
NM_014049.5(ACAD9):c.*504G>A rs549991044 0.00016
NM_014251.3(SLC25A13):c.*729G>A rs373153995 0.00016
NM_014252.4(SLC25A15):c.*1595G>A rs886050245 0.00016
NM_014252.4(SLC25A15):c.*1852C>T rs189882750 0.00016
NM_018368.4(LMBRD1):c.1192T>C (p.Tyr398His) rs185334169 0.00016
NM_020686.6(ABAT):c.*1110A>C rs886052437 0.00016
NM_020686.6(ABAT):c.*1771C>G rs543197540 0.00016
NM_024747.6(HPS6):c.1951C>T (p.Arg651Trp) rs376165374 0.00016
NM_053013.4(ENO3):c.249C>T (p.Ser83=) rs145859308 0.00016
NM_054012.4(ASS1):c.174+4C>A rs368133957 0.00016
NM_175914.5(HNF4A):c.*1087G>C rs540463510 0.00016
NM_175914.5(HNF4A):c.*2193T>C rs148871044 0.00016
NM_175914.5(HNF4A):c.50-4753G>A rs566155738 0.00016
NM_175914.5(HNF4A):c.582+12C>T rs372596032 0.00016
NM_181507.2(HPS5):c.*182C>T rs886048074 0.00016
NM_183235.3(RAB27A):c.*1672T>C rs886051306 0.00016
NM_183235.3(RAB27A):c.*668A>G rs118003408 0.00016
NM_183235.3(RAB27A):c.559C>T (p.Arg187Trp) rs144946000 0.00016
NC_000017.11:g.37745116G>A rs142612536 0.00015
NM_000048.4(ASL):c.857A>G (p.Gln286Arg) rs28941472 0.00015
NM_000161.3(GCH1):c.*1033C>T rs867220379 0.00015
NM_000195.5(HPS1):c.1286G>A (p.Arg429His) rs201728087 0.00015
NM_000458.4(HNF1B):c.*701G>A rs886052888 0.00015
NM_000458.4(HNF1B):c.73G>T (p.Val25Leu) rs139107479 0.00015
NM_000550.3(TYRP1):c.436C>T (p.Arg146Trp) rs201293896 0.00015
NM_001033044.4(GLUL):c.*2203A>G rs550128202 0.00015
NM_001358530.2(MOCS1):c.*633C>T rs757366588 0.00015
NM_001370658.1(BTD):c.-105C>T rs184480128 0.00015
NM_001701.4(BAAT):c.-59-14C>A rs777417694 0.00015
NM_001715.3(BLK):c.-203C>T rs886062592 0.00015
NM_001715.3(BLK):c.1351G>A (p.Gly451Ser) rs199605698 0.00015
NM_001918.5(DBT):c.*295G>A rs556913110 0.00015
NM_001918.5(DBT):c.*918G>T rs555064255 0.00015
NM_002108.4(HAL):c.1794G>A (p.Pro598=) rs149461774 0.00015
NM_003597.5(KLF11):c.-108G>A rs868540286 0.00015
NM_004453.4(ETFDH):c.1531G>A (p.Asp511Asn) rs780768015 0.00015
NM_004453.4(ETFDH):c.972+13C>T rs199589412 0.00015
NM_005271.5(GLUD1):c.1403-11T>C rs886047374 0.00015
NM_014251.3(SLC25A13):c.408A>G (p.Leu136=) rs188486690 0.00015
NM_014252.3(SLC25A15):c.-245C>T rs886050237 0.00015
NM_014252.4(SLC25A15):c.277C>T (p.Arg93Trp) rs200014560 0.00015
NM_018368.4(LMBRD1):c.*166A>G rs960902863 0.00015
NM_018368.4(LMBRD1):c.384T>C (p.Asp128=) rs143642515 0.00015
NM_020166.5(MCCC1):c.1894C>T (p.Pro632Ser) rs142867987 0.00015
NM_020686.6(ABAT):c.*283T>C rs142722977 0.00015
NM_022081.6(HPS4):c.1959T>C (p.Asn653=) rs202120615 0.00015
NM_181507.2(HPS5):c.1805G>A (p.Ser602Asn) rs142793392 0.00015
NM_183235.3(RAB27A):c.*1473T>C rs568895039 0.00015
NM_000017.4(ACADS):c.825C>T (p.Ile275=) rs200652158 0.00014
NM_000018.4(ACADVL):c.1227G>A (p.Thr409=) rs778531268 0.00014
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg) rs200788251 0.00014
NM_000045.4(ARG1):c.271G>A (p.Gly91Arg) rs374676787 0.00014
NM_000081.4(LYST):c.7806A>G (p.Gln2602=) rs372754364 0.00014
NM_000108.5(DLD):c.*739G>A rs181103944 0.00014
NM_000108.5(DLD):c.74A>C (p.Gln25Pro) rs61749951 0.00014
NM_000137.2(FAH):c.-67C>A rs886051495 0.00014
NM_000137.4(FAH):c.-43G>T rs200704926 0.00014
NM_000156.6(GAMT):c.22C>A (p.Pro8Thr) rs776498025 0.00014
NM_000161.3(GCH1):c.*256A>G rs181674470 0.00014
NM_000162.5(GCK):c.213C>T (p.Val71=) rs143128547 0.00014
NM_000187.4(HGD):c.835C>A (p.Leu279Met) rs200382812 0.00014
NM_000195.5(HPS1):c.366G>A (p.Leu122=) rs147269809 0.00014
NM_000275.3(OCA2):c.*300T>C rs776180839 0.00014
NM_000275.3(OCA2):c.48G>A (p.Ala16=) rs371834997 0.00014
NM_000298.6(PKLR):c.*735A>G rs180944719 0.00014
NM_000360.4(TH):c.605G>A (p.Arg202His) rs80338892 0.00014
NM_000429.3(MAT1A):c.*1673C>T rs754180251 0.00014
NM_000481.4(AMT):c.858C>A (p.Gly286=) rs367726589 0.00014
NM_000525.4(KCNJ11):c.*697G>A rs117976105 0.00014
NM_000531.6(OTC):c.*175T>C rs752290309 0.00014
NM_000545.8(HNF1A):c.*864C>T rs750496742 0.00014
NM_000709.4(BCKDHA):c.*134C>T rs150173947 0.00014
NM_001080.3(ALDH5A1):c.*1515C>T rs368136060 0.00014
NM_001080.3(ALDH5A1):c.62G>A (p.Gly21Asp) rs371923295 0.00014
NM_001352514.2(HLCS):c.*1273T>A rs565500474 0.00014
NM_001352514.2(HLCS):c.294A>C (p.Gln98His) rs751729789 0.00014
NM_001358530.2(MOCS1):c.758-9C>T rs368402544 0.00014
NM_001701.4(BAAT):c.-92C>T rs191553393 0.00014
NM_001918.5(DBT):c.*8275A>G rs189649370 0.00014
NM_002108.4(HAL):c.1754C>G (p.Ser585Cys) rs201632329 0.00014
NM_002860.4(ALDH18A1):c.2335A>G (p.Ser779Gly) rs143874727 0.00014
NM_003060.4(SLC22A5):c.1440C>T (p.Phe480=) rs150457229 0.00014
NM_003664.5(AP3B1):c.2345C>T (p.Ser782Phe) rs143589037 0.00014
NM_004453.4(ETFDH):c.1518G>A (p.Glu506=) rs146882697 0.00014
NM_014049.5(ACAD9):c.*92A>C rs367762859 0.00014
NM_014251.3(SLC25A13):c.1275G>A (p.Ser425=) rs376416252 0.00014
NM_014252.4(SLC25A15):c.*2190T>C rs117823875 0.00014
NM_032383.5(HPS3):c.1711C>T (p.His571Tyr) rs142027515 0.00014
NM_032383.5(HPS3):c.694A>G (p.Ile232Val) rs199722122 0.00014
NM_054012.4(ASS1):c.1165A>G (p.Thr389Ala) rs145288815 0.00014
NM_054012.4(ASS1):c.858A>T (p.Ala286=) rs201905628 0.00014
NM_175914.5(HNF4A):c.*1364G>A rs187923731 0.00014
NM_175914.5(HNF4A):c.*3068C>T rs753843962 0.00014
NM_175914.5(HNF4A):c.*427G>T rs144306069 0.00014
NM_183235.3(RAB27A):c.*429C>T rs368212830 0.00014
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg) rs121434274 0.00013
NM_000048.4(ASL):c.1056G>A (p.Thr352=) rs745476328 0.00013
NM_000071.3(CBS):c.1072G>A (p.Val358Met) rs148589243 0.00013
NM_000081.4(LYST):c.1494A>G (p.Arg498=) rs201412615 0.00013
NM_000081.4(LYST):c.2150A>G (p.Asn717Ser) rs201255245 0.00013
NM_000108.5(DLD):c.-8G>T rs372155330 0.00013
NM_000137.4(FAH):c.-40C>G rs371100968 0.00013
NM_000156.6(GAMT):c.575C>T (p.Thr192Met) rs141066224 0.00013
NM_000161.3(GCH1):c.-56G>A rs866010535 0.00013
NM_000182.5(HADHA):c.1690-14C>T rs142401180 0.00013
NM_000187.4(HGD):c.1176C>T (p.Ala392=) rs368805723 0.00013
NM_000195.5(HPS1):c.*1005A>G rs186229582 0.00013
NM_000195.5(HPS1):c.*403G>A rs886046589 0.00013
NM_000195.5(HPS1):c.-28G>A rs186783129 0.00013
NM_000207.3(INS):c.*2C>T rs200306755 0.00013
NM_000274.4(OAT):c.-4C>G rs372151002 0.00013
NM_000274.4(OAT):c.1160-13T>A rs372850085 0.00013
NM_000274.4(OAT):c.736C>T (p.Leu246=) rs146882296 0.00013
NM_000298.6(PKLR):c.1468C>T (p.Arg490Trp) rs200133000 0.00013
NM_000320.3(QDPR):c.*329T>G rs886059238 0.00013
NM_000360.4(TH):c.*9C>T rs762091461 0.00013
NM_000365.6(TPI1):c.543+6C>T rs369693539 0.00013
NM_000387.6(SLC25A20):c.535+6C>T rs199770033 0.00013
NM_000458.4(HNF1B):c.-82G>T rs886052892 0.00013
NM_000545.8(HNF1A):c.*621C>T rs1026422272 0.00013
NM_000550.3(TYRP1):c.*568T>C rs142323339 0.00013
NM_000687.4(AHCY):c.918C>T (p.Ile306=) rs146829385 0.00013
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_001033044.4(GLUL):c.-14+966C>T rs954104168 0.00013
NM_001243177.4(ALDOA):c.*76C>T rs886051896 0.00013
NM_001352514.2(HLCS):c.1550C>T (p.Thr517Ile) rs575286749 0.00013
NM_001366110.1(PAX4):c.1014C>T (p.Ala338=) rs201607054 0.00013
NM_001366110.1(PAX4):c.571C>T (p.Arg191Cys) rs114315130 0.00013
NM_001701.4(BAAT):c.*1528C>A rs572228256 0.00013
NM_001875.5(CPS1):c.3466A>T (p.Thr1156Ser) rs201246466 0.00013
NM_001902.6(CTH):c.495G>T (p.Lys165Asn) rs375562313 0.00013
NM_001918.5(DBT):c.747C>A (p.Gly249=) rs200612682 0.00013
NM_002108.4(HAL):c.1169G>A (p.Arg390His) rs139643676 0.00013
NM_002108.4(HAL):c.1287+2T>C rs141634423 0.00013
NM_003664.5(AP3B1):c.1720A>G (p.Thr574Ala) rs141789572 0.00013
NM_003748.4(ALDH4A1):c.*464G>A rs536186688 0.00013
NM_005327.7(HADH):c.133-15C>T rs190144364 0.00013
NM_005566.4(LDHA):c.*660C>T rs765180823 0.00013
NM_006623.4(PHGDH):c.-79T>C rs747803505 0.00013
NM_006623.4(PHGDH):c.743C>T (p.Ala248Val) rs201782441 0.00013
NM_012463.4(ATP6V0A2):c.*2833A>T rs117111955 0.00013
NM_012463.4(ATP6V0A2):c.*3505A>G rs868846588 0.00013
NM_014251.3(SLC25A13):c.1945G>C (p.Gly649Arg) rs757317844 0.00013
NM_015702.3(MMADHC):c.-60G>A rs886054923 0.00013
NM_018368.4(LMBRD1):c.*125A>G rs886061689 0.00013
NM_022081.6(HPS4):c.*1209T>C rs749313648 0.00013
NM_022081.6(HPS4):c.706+8G>C rs3747131 0.00013
NM_024747.6(HPS6):c.2181A>G (p.Ala727=) rs199518658 0.00013
NM_032383.5(HPS3):c.132C>A (p.Phe44Leu) rs779631326 0.00013
NM_054012.4(ASS1):c.241G>A (p.Ala81Thr) rs141640176 0.00013
NM_058179.4(PSAT1):c.1008-11G>T rs200199574 0.00013
NM_153006.3(NAGS):c.1234C>T (p.Arg412Cys) rs201703838 0.00013
NM_175914.5(HNF4A):c.*1363C>T rs769165584 0.00013
NM_176806.3(MOCS2):c.-37T>C rs757181179 0.00013
NM_183235.3(RAB27A):c.307A>G (p.Asn103Asp) rs144492641 0.00013
NM_000081.4(LYST):c.2517T>C (p.Ile839=) rs78172154 0.00012
NM_000137.4(FAH):c.715A>T (p.Ile239Phe) rs144228661 0.00012
NM_000137.4(FAH):c.864C>T (p.Cys288=) rs370273424 0.00012
NM_000161.3(GCH1):c.*695T>A rs996768677 0.00012
NM_000161.3(GCH1):c.*721A>G rs759090432 0.00012
NM_000187.3(HGD):c.-218A>G rs553200191 0.00012
NM_000195.5(HPS1):c.1846G>A (p.Glu616Lys) rs775570414 0.00012
NM_000284.4(PDHA1):c.*707G>A rs150945967 0.00012
NM_000298.6(PKLR):c.1117-13C>T rs145132664 0.00012
NM_000353.3(TAT):c.-7G>A rs201879651 0.00012
NM_000365.6(TPI1):c.315G>C (p.Glu105Asp) rs121964845 0.00012
NM_000429.3(MAT1A):c.*545A>G rs560158878 0.00012
NM_000429.3(MAT1A):c.981G>A (p.Pro327=) rs149163315 0.00012
NM_000481.4(AMT):c.961G>A (p.Val321Met) rs149457059 0.00012
NM_000531.6(OTC):c.*105C>T rs1036076773 0.00012
NM_000550.3(TYRP1):c.1354A>G (p.Met452Val) rs761776915 0.00012
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln) rs181649030 0.00012
NM_001032386.2(SUOX):c.983C>T (p.Thr328Ile) rs540792428 0.00012
NM_001080.3(ALDH5A1):c.*3298A>G rs968683849 0.00012
NM_001352514.2(HLCS):c.*1827C>A rs768653798 0.00012
NM_001352514.2(HLCS):c.*2555T>C rs79868396 0.00012
NM_001352514.2(HLCS):c.2151C>T (p.Asn717=) rs148709879 0.00012
NM_001358530.2(MOCS1):c.1413C>T (p.Ala471=) rs745789021 0.00012
NM_001701.4(BAAT):c.*538T>C rs762247825 0.00012
NM_001875.5(CPS1):c.*1087T>C rs760593059 0.00012
NM_001918.5(DBT):c.*4377C>G rs886044946 0.00012
NM_001918.5(DBT):c.*722C>T rs886044960 0.00012
NM_003124.5(SPR):c.486A>G (p.Gln162=) rs139708286 0.00012
NM_003597.5(KLF11):c.*2274G>A rs149368043 0.00012
NM_005518.4(HMGCS2):c.894G>A (p.Met298Ile) rs138086607 0.00012
NM_006623.4(PHGDH):c.390C>T (p.Asp130=) rs148078511 0.00012
NM_006623.4(PHGDH):c.644-12G>A rs370255821 0.00012
NM_012463.4(ATP6V0A2):c.*3159G>A rs539564846 0.00012
NM_014049.5(ACAD9):c.*499G>A rs765999383 0.00012
NM_014252.4(SLC25A15):c.*2264C>T rs544170849 0.00012
NM_014252.4(SLC25A15):c.706A>G (p.Arg236Gly) rs142236568 0.00012
NM_020166.5(MCCC1):c.1561G>A (p.Ala521Thr) rs149957640 0.00012
NM_020686.6(ABAT):c.*2352G>C rs886052446 0.00012
NM_024747.6(HPS6):c.112C>G (p.Pro38Ala) rs746813506 0.00012
NM_181507.2(HPS5):c.1769A>C (p.Lys590Thr) rs147413884 0.00012
NM_000018.4(ACADVL):c.1239A>G (p.Ile413Met) rs143172658 0.00011
NM_000048.4(ASL):c.*286T>A rs555884175 0.00011
NM_000048.4(ASL):c.-31G>A rs766867890 0.00011
NM_000048.4(ASL):c.1278C>T (p.Cys426=) rs140770112 0.00011
NM_000081.4(LYST):c.3311G>A (p.Arg1104Gln) rs148299757 0.00011
NM_000096.4(CP):c.*572A>G rs561191589 0.00011
NM_000156.6(GAMT):c.707G>C (p.Gly236Ala) rs201029006 0.00011
NM_000162.5(GCK):c.363+9C>T rs200985182 0.00011
NM_000162.5(GCK):c.649G>A (p.Asp217Asn) rs147065275 0.00011
NM_000162.5(GCK):c.666C>T (p.Val222=) rs193922318 0.00011
NM_000170.3(GLDC):c.1926+6T>C rs200007891 0.00011
NM_000170.3(GLDC):c.2149A>G (p.Ile717Val) rs117460214 0.00011
NM_000170.3(GLDC):c.2518A>G (p.Met840Val) rs781693346 0.00011
NM_000187.4(HGD):c.*155A>G rs776810530 0.00011
NM_000187.4(HGD):c.141G>A (p.Ser47=) rs541268108 0.00011
NM_000187.4(HGD):c.752G>A (p.Gly251Asp) rs781011621 0.00011
NM_000191.3(HMGCL):c.340G>A (p.Glu114Lys) rs200955062 0.00011
NM_000191.3(HMGCL):c.56G>C (p.Arg19Pro) rs377359610 0.00011
NM_000274.4(OAT):c.*561G>A rs375454907 0.00011
NM_000274.4(OAT):c.478G>A (p.Val160Met) rs148433929 0.00011
NM_000275.3(OCA2):c.1631T>C (p.Ile544Thr) rs34141095 0.00011
NM_000275.3(OCA2):c.1785-7C>G rs375281082 0.00011
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn) rs62644499 0.00011
NM_000284.4(PDHA1):c.*1450C>T rs747229060 0.00011
NM_000289.6(PFKM):c.*3C>T rs367783282 0.00011
NM_000289.6(PFKM):c.2121G>A (p.Ser707=) rs370046842 0.00011
NM_000289.6(PFKM):c.638+15C>A rs376150217 0.00011
NM_000290.4(PGAM2):c.480T>C (p.Ile160=) rs780650903 0.00011
NM_000298.6(PKLR):c.805G>T (p.Val269Phe) rs200695047 0.00011
NM_000352.6(ABCC8):c.2060C>T (p.Thr687Met) rs150316347 0.00011
NM_000352.6(ABCC8):c.4119+15C>T rs58368439 0.00011
NM_000353.3(TAT):c.*81G>A rs886052272 0.00011
NM_000360.4(TH):c.1383G>A (p.Pro461=) rs552808212 0.00011
NM_000372.5(TYR):c.1161T>C (p.Leu387=) rs141967840 0.00011
NM_000545.8(HNF1A):c.*267T>C rs571084139 0.00011
NM_000550.3(TYRP1):c.*458A>G rs549032453 0.00011
NM_000550.3(TYRP1):c.*518A>G rs748262937 0.00011
NM_000709.4(BCKDHA):c.448A>G (p.Asn150Asp) rs140612545 0.00011
NM_000925.3(PDHB):c.-49T>C rs373907802 0.00011
NM_001033044.4(GLUL):c.*399C>T rs886045613 0.00011
NM_001080.3(ALDH5A1):c.*2109A>G rs560935505 0.00011
NM_001352514.2(HLCS):c.951C>T (p.Ser317=) rs185480832 0.00011
NM_001358530.2(MOCS1):c.*1954G>A rs189856931 0.00011
NM_001358530.2(MOCS1):c.*756A>C rs745583636 0.00011
NM_001358530.2(MOCS1):c.583+12T>C rs199797027 0.00011
NM_001482.3(GATM):c.*799T>C rs903173589 0.00011
NM_001715.3(BLK):c.-76G>A rs957686517 0.00011
NM_001902.6(CTH):c.*334T>A rs886046513 0.00011
NM_001902.6(CTH):c.816C>T (p.Asn272=) rs148057648 0.00011
NM_001918.5(DBT):c.*2088A>T rs771850946 0.00011
NM_001918.5(DBT):c.827T>G (p.Phe276Cys) rs121964999 0.00011
NM_002108.4(HAL):c.309-2A>G rs140799551 0.00011
NM_002108.4(HAL):c.94G>T (p.Val32Leu) rs150051467 0.00011
NM_002500.4(NEUROD1):c.*1601C>A rs929497632 0.00011
NM_002500.5(NEUROD1):c.*1033T>G rs555224400 0.00011
NM_003060.4(SLC22A5):c.952-14T>C rs373018486 0.00011
NM_003124.5(SPR):c.115C>T (p.Leu39Phe) rs777872233 0.00011
NM_003477.3(PDHX):c.*650G>A rs886048249 0.00011
NM_003477.3(PDHX):c.*763G>A rs886048250 0.00011
NM_003477.3(PDHX):c.532G>A (p.Gly178Arg) rs765182974 0.00011
NM_003597.5(KLF11):c.*166C>T rs531131204 0.00011
NM_003597.5(KLF11):c.358A>G (p.Arg120Gly) rs201792575 0.00011
NM_003664.5(AP3B1):c.2762A>G (p.Glu921Gly) rs753810749 0.00011
NM_004453.3(ETFDH):c.-315G>A rs886059192 0.00011
NM_004577.4(PSPH):c.*341G>A rs886062387 0.00011
NM_005327.7(HADH):c.*142G>A rs560215584 0.00011
NM_012463.4(ATP6V0A2):c.*3166C>T rs777687879 0.00011
NM_012463.4(ATP6V0A2):c.2505C>G (p.Thr835=) rs535703391 0.00011
NM_014049.5(ACAD9):c.442A>G (p.Ile148Val) rs202119704 0.00011
NM_014251.3(SLC25A13):c.*881T>G rs769090840 0.00011
NM_014252.4(SLC25A15):c.216C>T (p.Ile72=) rs572717478 0.00011
NM_016180.5(SLC45A2):c.264del (p.Gly89fs) rs775387808 0.00011
NM_020166.5(MCCC1):c.535G>A (p.Glu179Lys) rs201758122 0.00011
NM_020686.6(ABAT):c.*2642T>G rs538092815 0.00011
NM_020686.6(ABAT):c.*2749T>C rs542532328 0.00011
NM_020686.6(ABAT):c.*2783G>A rs572474401 0.00011
NM_022081.6(HPS4):c.*2171C>T rs1013987506 0.00011
NM_022081.6(HPS4):c.-479+5G>A rs886057322 0.00011
NM_022081.6(HPS4):c.553C>T (p.Arg185Cys) rs369104384 0.00011
NM_022081.6(HPS4):c.922A>G (p.Thr308Ala) rs150057646 0.00011
NM_058179.4(PSAT1):c.1111T>C (p.Ter371Arg) rs756701004 0.00011
NM_058179.4(PSAT1):c.916C>T (p.Arg306Cys) rs113824905 0.00011
NM_175914.5(HNF4A):c.*2374G>C rs373068234 0.00011
NM_183235.3(RAB27A):c.*1170T>G rs574506558 0.00011
NM_000016.6(ACADM):c.210T>G (p.Thr70=) rs778891510 0.00010
NM_000045.4(ARG1):c.482G>C (p.Gly161Ala) rs201484132 0.00010
NM_000071.3(CBS):c.1146-12C>T rs199550738 0.00010
NM_000071.3(CBS):c.894G>A (p.Gln298=) rs370514077 0.00010
NM_000081.4(LYST):c.10221C>T (p.Tyr3407=) rs146457386 0.00010
NM_000081.4(LYST):c.196T>C (p.Leu66=) rs138393416 0.00010
NM_000137.4(FAH):c.554-1G>T rs80338895 0.00010
NM_000137.4(FAH):c.648C>A (p.Ile216=) rs147016995 0.00010
NM_000137.4(FAH):c.841C>A (p.Pro281Thr) rs199820704 0.00010
NM_000170.3(GLDC):c.2230G>A (p.Gly744Arg) rs370061961 0.00010
NM_000182.5(HADHA):c.*239C>T rs1001518961 0.00010
NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly) rs200764804 0.00010
NM_000277.3(PAH):c.280A>G (p.Ile94Val) rs528078207 0.00010
NM_000289.6(PFKM):c.-17G>C rs952485517 0.00010
NM_000298.6(PKLR):c.121C>T (p.Arg41Trp) rs375189218 0.00010
NM_000298.6(PKLR):c.1365C>T (p.Thr455=) rs146708702 0.00010
NM_000320.3(QDPR):c.271G>T (p.Ala91Ser) rs147257284 0.00010
NM_000352.6(ABCC8):c.3112G>A (p.Asp1038Asn) rs367974472 0.00010
NM_000352.6(ABCC8):c.723C>T (p.His241=) rs147276708 0.00010
NM_000365.6(TPI1):c.-11G>A rs199634350 0.00010
NM_000481.4(AMT):c.194A>G (p.His65Arg) rs376248724 0.00010
NM_000687.4(AHCY):c.*181C>T rs759056638 0.00010
NM_000709.4(BCKDHA):c.159G>C (p.Gln53His) rs775471043 0.00010
NM_000784.4(CYP27A1):c.256G>A (p.Val86Met) rs200604732 0.00010
NM_000784.4(CYP27A1):c.792G>A (p.Val264=) rs144018609 0.00010
NM_001002755.2(NFU1):c.-134A>G rs768859205 0.00010
NM_001033044.4(GLUL):c.*687A>G rs546951174 0.00010
NM_001080.3(ALDH5A1):c.1479C>T (p.Asn493=) rs200661931 0.00010
NM_001080.3(ALDH5A1):c.862A>G (p.Thr288Ala) rs373320785 0.00010
NM_001352514.2(HLCS):c.*1594A>G rs776064678 0.00010
NM_001366110.1(PAX4):c.1024C>T (p.Pro342Ser) rs143084654 0.00010
NM_001715.3(BLK):c.*229G>C rs1045306871 0.00010
NM_001715.3(BLK):c.18C>T (p.Ser6=) rs113656715 0.00010
NM_001875.5(CPS1):c.186C>T (p.Gly62=) rs529836556 0.00010
NM_001875.5(CPS1):c.3796T>C (p.Phe1266Leu) rs373841124 0.00010
NM_001918.5(DBT):c.*2851C>T rs1023974357 0.00010
NM_003060.4(SLC22A5):c.*1214G>A rs529124788 0.00010
NM_003477.3(PDHX):c.577G>C (p.Glu193Gln) rs149337104 0.00010
NM_003664.5(AP3B1):c.*101T>C rs766029582 0.00010
NM_003664.5(AP3B1):c.2340C>T (p.Ser780=) rs199599147 0.00010
NM_003748.3(ALDH4A1):c.-39G>T rs112566606 0.00010
NM_003748.4(ALDH4A1):c.740G>T (p.Arg247Leu) rs558761793 0.00010
NM_004531.5(MOCS2):c.*2675A>C rs367795073 0.00010
NM_005518.4(HMGCS2):c.175C>A (p.Leu59Met) rs181428774 0.00010
NM_005518.4(HMGCS2):c.26A>G (p.Lys9Arg) rs144004292 0.00010
NM_012463.4(ATP6V0A2):c.*1454A>G rs3748272 0.00010
NM_012463.4(ATP6V0A2):c.920C>G (p.Ala307Gly) rs752306671 0.00010
NM_014252.4(SLC25A15):c.278G>A (p.Arg93Gln) rs369201060 0.00010
NM_014252.4(SLC25A15):c.380C>T (p.Thr127Met) rs201902280 0.00010
NM_018368.4(LMBRD1):c.*384A>C rs536469891 0.00010
NM_022081.6(HPS4):c.1679C>T (p.Pro560Leu) rs143902143 0.00010
NM_024747.6(HPS6):c.727C>A (p.Pro243Thr) rs767667481 0.00010
NM_032383.5(HPS3):c.2469A>G (p.Thr823=) rs370137287 0.00010
NM_032383.5(HPS3):c.2936A>G (p.Asn979Ser) rs781373708 0.00010
NM_032383.5(HPS3):c.392C>T (p.Pro131Leu) rs577273287 0.00010
NM_181507.2(HPS5):c.-82T>G rs1452519401 0.00010
NM_181507.2(HPS5):c.1012A>C (p.Asn338His) rs144134556 0.00010
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) rs79761867 0.00010
NM_183235.3(RAB27A):c.*1296T>G rs560689599 0.00010
NM_000017.4(ACADS):c.*4C>T rs774815274 0.00009
NM_000017.4(ACADS):c.1108A>G (p.Met370Val) rs566325901 0.00009
NM_000018.4(ACADVL):c.1005C>A (p.His335Gln) rs753624994 0.00009
NM_000018.4(ACADVL):c.114G>C (p.Arg38=) rs777380964 0.00009
NM_000018.4(ACADVL):c.1803G>A (p.Met601Ile) rs201462718 0.00009
NM_000048.4(ASL):c.1270G>A (p.Val424Met) rs368264870 0.00009
NM_000081.4(LYST):c.281C>T (p.Thr94Ile) rs777389303 0.00009
NM_000108.5(DLD):c.*1877A>G rs182010485 0.00009
NM_000126.4(ETFA):c.-59C>T rs80155214 0.00009
NM_000137.4(FAH):c.1209C>T (p.Ile403=) rs111345782 0.00009
NM_000156.6(GAMT):c.242C>T (p.Ala81Val) rs751099274 0.00009
NM_000156.6(GAMT):c.662G>A (p.Arg221His) rs766553422 0.00009
NM_000161.2(GCH1):c.-169C>T rs538405738 0.00009
NM_000162.5(GCK):c.393C>T (p.Ser131=) rs139139350 0.00009
NM_000170.3(GLDC):c.-168G>A rs891076552 0.00009
NM_000182.5(HADHA):c.1284C>T (p.Asn428=) rs199535840 0.00009
NM_000182.5(HADHA):c.1655C>T (p.Ala552Val) rs369588406 0.00009
NM_000182.5(HADHA):c.2147-8C>G rs368976628 0.00009
NM_000187.4(HGD):c.1206A>G (p.Ser402=) rs140500816 0.00009
NM_000187.4(HGD):c.567C>G (p.Ser189Arg) rs750428921 0.00009
NM_000195.5(HPS1):c.*626C>T rs776700327 0.00009
NM_000195.5(HPS1):c.179C>T (p.Thr60Met) rs200004304 0.00009
NM_000195.5(HPS1):c.1951C>T (p.Arg651Cys) rs375322422 0.00009
NM_000195.5(HPS1):c.2065C>T (p.Arg689Trp) rs3830014 0.00009
NM_000275.3(OCA2):c.1479T>G (p.Val493=) rs374434751 0.00009
NM_000275.3(OCA2):c.2245-6C>A rs368772032 0.00009
NM_000275.3(OCA2):c.2432+11A>G rs145577954 0.00009
NM_000275.3(OCA2):c.972C>T (p.Arg324=) rs368832716 0.00009
NM_000277.3(PAH):c.117C>G (p.Phe39Leu) rs62642926 0.00009
NM_000277.3(PAH):c.434A>T (p.Asp145Val) rs140175796 0.00009
NM_000387.5(SLC25A20):c.-130C>G rs150795620 0.00009
NM_000387.5(SLC25A20):c.-195A>C rs886058661 0.00009
NM_000429.3(MAT1A):c.*68G>A rs980270209 0.00009
NM_000429.3(MAT1A):c.488G>A (p.Arg163Gln) rs752361383 0.00009
NM_000458.4(HNF1B):c.1578C>G (p.Ser526=) rs751225159 0.00009
NM_000481.3(AMT):c.-206G>A rs573551723 0.00009
NM_000481.4(AMT):c.589G>C (p.Asp197His) rs200550585 0.00009
NM_000525.4(KCNJ11):c.*218G>T rs886048039 0.00009
NM_001002755.4(NFU1):c.299C>G (p.Ala100Gly) rs139171264 0.00009
NM_001033044.4(GLUL):c.-14+934C>G rs534569561 0.00009
NM_001080.3(ALDH5A1):c.*2675G>A rs912565317 0.00009
NM_001080.3(ALDH5A1):c.*318C>T rs748017937 0.00009
NM_001080.3(ALDH5A1):c.*696T>C rs886061272 0.00009
NM_001080.3(ALDH5A1):c.727-13T>G rs187404409 0.00009
NM_001080.3(ALDH5A1):c.803G>A (p.Gly268Glu) rs375628463 0.00009
NM_001243177.4(ALDOA):c.*101G>A rs539833998 0.00009
NM_001243177.4(ALDOA):c.*72T>G rs886051895 0.00009
NM_001352514.2(HLCS):c.1974dup (p.Val659fs) rs767533946 0.00009
NM_001352514.2(HLCS):c.2432A>G (p.Tyr811Cys) rs776535574 0.00009
NM_001358530.2(MOCS1):c.*1628C>T rs766403739 0.00009
NM_001358530.2(MOCS1):c.1098T>G (p.His366Gln) rs372068922 0.00009
NM_001358530.2(MOCS1):c.398C>T (p.Pro133Leu) rs139431867 0.00009
NM_001715.3(BLK):c.620-11C>T rs764915190 0.00009
NM_001875.5(CPS1):c.1087-7C>T rs202117044 0.00009
NM_001875.5(CPS1):c.1154T>C (p.Ile385Thr) rs201955205 0.00009
NM_001875.5(CPS1):c.295C>A (p.Pro99Thr) rs140999077 0.00009
NM_001902.6(CTH):c.*522T>A rs374567270 0.00009
NM_001902.6(CTH):c.*681G>A rs961613194 0.00009
NM_001918.5(DBT):c.*3336_*3338dup rs886044950 0.00009
NM_001918.5(DBT):c.*3789A>C rs757800211 0.00009
NM_001918.5(DBT):c.*4313G>A rs187287215 0.00009
NM_001918.5(DBT):c.*8118T>C rs758082965 0.00009
NM_001918.5(DBT):c.*8670A>G rs959425245 0.00009
NM_001918.5(DBT):c.*9228C>T rs1009840621 0.00009
NM_002108.4(HAL):c.1594G>A (p.Val532Ile) rs183059673 0.00009
NM_003477.2(PDHX):c.-354C>T rs761199870 0.00009
NM_003477.3(PDHX):c.317A>G (p.Asp106Gly) rs146456454 0.00009
NM_003597.5(KLF11):c.1077G>A (p.Met359Ile) rs146486664 0.00009
NM_003597.5(KLF11):c.961G>C (p.Ala321Pro) rs776725808 0.00009
NM_003664.5(AP3B1):c.537-9A>G rs372285421 0.00009
NM_003748.4(ALDH4A1):c.-24G>A rs886045707 0.00009
NM_003748.4(ALDH4A1):c.487G>A (p.Ala163Thr) rs201780333 0.00009
NM_004577.4(PSPH):c.*317G>A rs565399960 0.00009
NM_005327.7(HADH):c.-34C>T rs748286204 0.00009
NM_005566.4(LDHA):c.57C>T (p.Pro19=) rs11553870 0.00009
NM_005589.4(ALDH6A1):c.*1050C>G rs918680042 0.00009
NM_005589.4(ALDH6A1):c.186+6C>T rs188543079 0.00009
NM_012463.4(ATP6V0A2):c.*3042T>G rs886049076 0.00009
NM_012463.4(ATP6V0A2):c.*742G>A rs964496583 0.00009
NM_012463.4(ATP6V0A2):c.1096C>T (p.Pro366Ser) rs372416067 0.00009
NM_012463.4(ATP6V0A2):c.1524C>T (p.Val508=) rs182439983 0.00009
NM_014049.4(ACAD9):c.-91G>T rs749695064 0.00009
NM_014049.5(ACAD9):c.*26C>T rs373417322 0.00009
NM_014251.3(SLC25A13):c.*191T>C rs529835831 0.00009
NM_014252.4(SLC25A15):c.147C>G (p.Asp49Glu) rs187685447 0.00009
NM_015702.3(MMADHC):c.-16A>G rs144111552 0.00009
NM_016180.5(SLC45A2):c.1533G>A (p.Ala511=) rs373174326 0.00009
NM_018368.4(LMBRD1):c.*26A>G rs758279877 0.00009
NM_020686.6(ABAT):c.1158G>A (p.Pro386=) rs374865268 0.00009
NM_020686.6(ABAT):c.26G>A (p.Arg9His) rs531783337 0.00009
NM_022081.6(HPS4):c.*469C>T rs959233919 0.00009
NM_022081.6(HPS4):c.373C>G (p.Leu125Val) rs180729981 0.00009
NM_032383.5(HPS3):c.1787A>G (p.Glu596Gly) rs147557809 0.00009
NM_032383.5(HPS3):c.398C>T (p.Ser133Leu) rs140810728 0.00009
NM_058179.4(PSAT1):c.*719G>A rs898367741 0.00009
NM_058179.4(PSAT1):c.1074C>T (p.Ala358=) rs116103106 0.00009
NM_175914.5(HNF4A):c.*977C>G rs367907885 0.00009
NM_175914.5(HNF4A):c.427-5C>T rs374703326 0.00009
NM_181507.2(HPS5):c.2247A>G (p.Val749=) rs139004989 0.00009
NM_183050.4(BCKDHB):c.*466G>T rs886061809 0.00009
NM_183235.3(RAB27A):c.*1842C>T rs1030465363 0.00009
NM_183235.3(RAB27A):c.-58A>G rs572723752 0.00009
NM_183235.3(RAB27A):c.543A>G (p.Ile181Met) rs139025012 0.00009
NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys) rs28940872 0.00008
NM_000048.4(ASL):c.1342G>A (p.Val448Ile) rs139410488 0.00008
NM_000071.3(CBS):c.1224-2A>C rs375846341 0.00008
NM_000081.4(LYST):c.9520G>A (p.Val3174Ile) rs199672291 0.00008
NM_000126.4(ETFA):c.-56C>A rs548701046 0.00008
NM_000126.4(ETFA):c.797C>T (p.Thr266Met) rs119458970 0.00008
NM_000161.3(GCH1):c.509+3A>G rs369661042 0.00008
NM_000178.4(GSS):c.*20G>C rs765434534 0.00008
NM_000178.4(GSS):c.834+4G>C rs201359061 0.00008
NM_000182.5(HADHA):c.*110G>A rs952439873 0.00008
NM_000191.3(HMGCL):c.*289G>T rs369514739 0.00008
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro) rs62508646 0.00008
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856 0.00008
NM_000320.3(QDPR):c.*278G>A rs765235173 0.00008
NM_000352.6(ABCC8):c.375C>G (p.His125Gln) rs60637558 0.00008
NM_000352.6(ABCC8):c.3858C>T (p.Tyr1286=) rs377045545 0.00008
NM_000352.6(ABCC8):c.4116G>A (p.Gln1372=) rs562715858 0.00008
NM_000352.6(ABCC8):c.4690A>G (p.Lys1564Glu) rs770317560 0.00008
NM_000365.6(TPI1):c.*519T>C rs377186570 0.00008
NM_000372.5(TYR):c.1214G>A (p.Arg405His) rs772173320 0.00008
NM_000429.3(MAT1A):c.916G>C (p.Val306Leu) rs369601773 0.00008
NM_000550.3(TYRP1):c.-6A>G rs200838609 0.00008
NM_001002755.2(NFU1):c.-66C>T rs753424678 0.00008
NM_001033044.4(GLUL):c.-80G>A rs925108907 0.00008
NM_001080.3(ALDH5A1):c.*1139C>G rs933728436 0.00008
NM_001080.3(ALDH5A1):c.*970C>T rs886061273 0.00008
NM_001243177.4(ALDOA):c.275-5C>T rs752764982 0.00008
NM_001352514.2(HLCS):c.*1085G>A rs531457233 0.00008
NM_001358530.2(MOCS1):c.*888C>T rs201675490 0.00008
NM_001358530.2(MOCS1):c.1315C>T (p.Arg439Trp) rs772101270 0.00008
NM_001366110.1(PAX4):c.14-51G>A rs878919319 0.00008
NM_001701.4(BAAT):c.*1341A>G rs545205256 0.00008
NM_001715.3(BLK):c.-124C>T rs886062593 0.00008
NM_001875.5(CPS1):c.528+9A>G rs369476447 0.00008
NM_001918.5(DBT):c.*3245G>A rs1266134285 0.00008
NM_001918.5(DBT):c.*7469T>C rs897269544 0.00008
NM_002065.6(GLUL):c.-680C>A rs886045622 0.00008
NM_002500.5(NEUROD1):c.646G>A (p.Val216Ile) rs755299574 0.00008
NM_003477.2(PDHX):c.-162C>A rs759318998 0.00008
NM_003597.5(KLF11):c.1161C>T (p.Asp387=) rs117449189 0.00008
NM_003597.5(KLF11):c.608G>A (p.Gly203Glu) rs145588324 0.00008
NM_003748.4(ALDH4A1):c.*719C>T rs778905588 0.00008
NM_003748.4(ALDH4A1):c.1381G>A (p.Asp461Asn) rs377270740 0.00008
NM_005271.5(GLUD1):c.*998C>T rs766730554 0.00008
NM_005327.7(HADH):c.*305T>A rs3822294 0.00008
NM_005327.7(HADH):c.240G>A (p.Lys80=) rs748623569 0.00008
NM_006623.3(PHGDH):c.-183G>A rs886045202 0.00008
NM_012463.4(ATP6V0A2):c.*2454T>C rs776825961 0.00008
NM_012463.4(ATP6V0A2):c.1698A>G (p.Gly566=) rs2271659 0.00008
NM_012463.4(ATP6V0A2):c.776G>A (p.Arg259Gln) rs377561982 0.00008
NM_014252.4(SLC25A15):c.-101C>G rs886050239 0.00008
NM_016180.5(SLC45A2):c.*1G>A rs3822467 0.00008
NM_018368.4(LMBRD1):c.802G>A (p.Ala268Thr) rs143758103 0.00008
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser) rs119103213 0.00008
NM_020686.6(ABAT):c.*959T>A rs750089237 0.00008
NM_032383.5(HPS3):c.1228A>G (p.Met410Val) rs756295432 0.00008
NM_032383.5(HPS3):c.338T>G (p.Val113Gly) rs763529688 0.00008
NM_054012.4(ASS1):c.1056C>T (p.Ser352=) rs766889925 0.00008
NM_153006.3(NAGS):c.722T>C (p.Val241Ala) rs201142696 0.00008
NM_176806.4(MOCS2):c.117G>A (p.Lys39=) rs773035025 0.00008
NM_181507.2(HPS5):c.1067C>A (p.Ser356Tyr) rs371346921 0.00008
NM_183050.4(BCKDHB):c.*569G>A rs1000319023 0.00008
NM_183050.4(BCKDHB):c.*644C>T rs535962304 0.00008
NM_183050.4(BCKDHB):c.*763G>A rs563470467 0.00008
NM_183235.3(RAB27A):c.526A>T (p.Met176Leu) rs757760608 0.00008
NM_212552.3(BOLA3):c.256C>G (p.Gln86Glu) rs149964046 0.00008
NM_000017.4(ACADS):c.327C>T (p.Cys109=) rs144083614 0.00007
NM_000018.4(ACADVL):c.205-7T>C rs760625298 0.00007
NM_000018.4(ACADVL):c.205-8C>G rs774353448 0.00007
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys) rs28940286 0.00007
NM_000071.3(CBS):c.888G>A (p.Thr296=) rs769593715 0.00007
NM_000081.4(LYST):c.3931A>G (p.Met1311Val) rs376718077 0.00007
NM_000108.5(DLD):c.*1505C>T rs1053262850 0.00007
NM_000156.6(GAMT):c.396C>A (p.Ile132=) rs200500835 0.00007
NM_000161.3(GCH1):c.*1257C>T rs763425111 0.00007
NM_000161.3(GCH1):c.297C>T (p.Ala99=) rs776450369 0.00007
NM_000178.4(GSS):c.1126G>A (p.Gly376Arg) rs146267300 0.00007
NM_000195.5(HPS1):c.2066G>A (p.Arg689Gln) rs147125175 0.00007
NM_000195.5(HPS1):c.90C>T (p.Phe30=) rs765362355 0.00007
NM_000275.3(OCA2):c.2169C>T (p.Ala723=) rs370020051 0.00007
NM_000277.3(PAH):c.*144A>G rs375319584 0.00007
NM_000277.3(PAH):c.896T>G (p.Phe299Cys) rs62642933 0.00007
NM_000320.3(QDPR):c.*31C>T rs377243912 0.00007
NM_000352.3(ABCC8):c.-113G>A rs886048056 0.00007
NM_000360.4(TH):c.252G>A (p.Leu84=) rs758016812 0.00007
NM_000365.6(TPI1):c.617G>A (p.Arg206His) rs782417309 0.00007
NM_000429.3(MAT1A):c.*786A>T rs564845398 0.00007
NM_000429.3(MAT1A):c.816C>T (p.Gly272=) rs751778923 0.00007
NM_000545.8(HNF1A):c.42G>A (p.Ala14=) rs775391034 0.00007
NM_000709.4(BCKDHA):c.*384C>T rs535473868 0.00007
NM_000709.4(BCKDHA):c.288+10G>A rs376894084 0.00007
NM_000784.4(CYP27A1):c.1114G>A (p.Gly372Arg) rs369969903 0.00007
NM_000784.4(CYP27A1):c.702C>T (p.Pro234=) rs371636461 0.00007
NM_001033044.4(GLUL):c.*1961G>A rs542537003 0.00007
NM_001080.3(ALDH5A1):c.*1658C>T rs775036676 0.00007
NM_001080.3(ALDH5A1):c.612G>A (p.Trp204Ter) rs118203982 0.00007
NM_001243177.4(ALDOA):c.223C>T (p.His75Tyr) rs766734350 0.00007
NM_001352514.2(HLCS):c.*2416C>T rs566088233 0.00007
NM_001358530.2(MOCS1):c.*326C>T rs554733904 0.00007
NM_001370658.1(BTD):c.-65G>T rs199516128 0.00007
NM_001482.3(GATM):c.1041C>T (p.Asp347=) rs139599307 0.00007
NM_001701.4(BAAT):c.*624T>C rs139963547 0.00007
NM_001701.4(BAAT):c.*787T>C rs181417867 0.00007
NM_001875.5(CPS1):c.167T>G (p.Met56Arg) rs778958318 0.00007
NM_001902.5(CTH):c.-151T>C rs767468686 0.00007
NM_001918.5(DBT):c.*8074G>A rs550751216 0.00007
NM_002108.4(HAL):c.1329C>G (p.Asn443Lys) rs150083495 0.00007
NM_002150.3(HPD):c.*65A>G rs931600760 0.00007
NM_002300.8(LDHB):c.130-8G>A rs369064312 0.00007
NM_002860.4(ALDH18A1):c.-5G>A rs371024575 0.00007
NM_002860.4(ALDH18A1):c.1604T>A (p.Leu535Gln) rs200452017 0.00007
NM_002860.4(ALDH18A1):c.2110+13A>G rs375782465 0.00007
NM_002860.4(ALDH18A1):c.973G>A (p.Val325Ile) rs192770256 0.00007
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln) rs200699819 0.00007
NM_003124.5(SPR):c.*50C>T rs760241473 0.00007
NM_003124.5(SPR):c.706G>A (p.Val236Met) rs371904378 0.00007
NM_003477.2(PDHX):c.-155G>A rs886048246 0.00007
NM_003477.3(PDHX):c.*259G>T rs771515806 0.00007
NM_003597.5(KLF11):c.*1301C>G rs886054731 0.00007
NM_003597.5(KLF11):c.*217G>T rs201145049 0.00007
NM_003597.5(KLF11):c.266C>T (p.Ala89Val) rs766187124 0.00007
NM_003664.5(AP3B1):c.1367T>C (p.Ile456Thr) rs536306260 0.00007
NM_003664.5(AP3B1):c.1845T>A (p.Asp615Glu) rs138751237 0.00007
NM_003748.4(ALDH4A1):c.21del (p.Leu8fs) rs387906314 0.00007
NM_003748.4(ALDH4A1):c.490G>C (p.Ala164Pro) rs369957092 0.00007
NM_004531.5(MOCS2):c.*532G>A rs886060695 0.00007
NM_004577.4(PSPH):c.-130G>T rs529188025 0.00007
NM_004577.4(PSPH):c.129G>A (p.Ala43=) rs548513131 0.00007
NM_005518.4(HMGCS2):c.275G>A (p.Arg92His) rs144921290 0.00007
NM_005589.4(ALDH6A1):c.*1534G>A rs1047039253 0.00007
NM_005589.4(ALDH6A1):c.*377C>A rs886050729 0.00007
NM_014049.5(ACAD9):c.1664G>A (p.Arg555His) rs200134546 0.00007
NM_014049.5(ACAD9):c.555T>G (p.Ser185Arg) rs781738719 0.00007
NM_014251.3(SLC25A13):c.1393G>T (p.Gly465Cys) rs372216502 0.00007
NM_014251.3(SLC25A13):c.6G>T (p.Ala2=) rs774562949 0.00007
NM_014252.3(SLC25A15):c.-304C>G rs886050236 0.00007
NM_016180.5(SLC45A2):c.1351C>T (p.Arg451Cys) rs142175557 0.00007
NM_016180.5(SLC45A2):c.602A>G (p.Asp201Gly) rs750190731 0.00007
NM_016180.5(SLC45A2):c.888+14A>G rs188368977 0.00007
NM_018368.4(LMBRD1):c.636+14G>T rs376670737 0.00007
NM_020686.6(ABAT):c.*2300G>A rs886052445 0.00007
NM_020686.6(ABAT):c.864C>T (p.Ala288=) rs149855547 0.00007
NM_022081.6(HPS4):c.*423G>A rs552928725 0.00007
NM_024747.6(HPS6):c.634G>A (p.Val212Met) rs375789510 0.00007
NM_032383.5(HPS3):c.1773G>A (p.Thr591=) rs559550536 0.00007
NM_053013.4(ENO3):c.1235+7C>T rs759839410 0.00007
NM_054012.4(ASS1):c.174+10G>A rs371597908 0.00007
NM_175914.5(HNF4A):c.*3018G>A rs533361991 0.00007
NM_181507.2(HPS5):c.1357C>T (p.Arg453Cys) rs200704721 0.00007
NM_183050.4(BCKDHB):c.*2224T>A rs1037438345 0.00007
NM_183235.3(RAB27A):c.*1485G>A rs886051308 0.00007
NM_000016.6(ACADM):c.1022C>G (p.Ala341Gly) rs768440594 0.00006
NM_000016.6(ACADM):c.582C>T (p.Asn194=) rs778535261 0.00006
NM_000017.4(ACADS):c.1095G>T (p.Gln365His) rs368469075 0.00006
NM_000017.4(ACADS):c.1192C>T (p.Gln398Ter) rs767774362 0.00006
NM_000017.4(ACADS):c.624+11C>T rs763811046 0.00006
NM_000018.4(ACADVL):c.583A>G (p.Lys195Glu) rs199763196 0.00006
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln) rs147366714 0.00006
NM_000048.4(ASL):c.401G>A (p.Gly134Asp) rs201352504 0.00006
NM_000071.3(CBS):c.1161C>T (p.Ser387=) rs149280976 0.00006
NM_000071.3(CBS):c.1379C>T (p.Thr460Met) rs752596508 0.00006
NM_000071.3(CBS):c.1425G>A (p.Pro475=) rs147885808 0.00006
NM_000071.3(CBS):c.352G>A (p.Val118Met) rs763385546 0.00006
NM_000071.3(CBS):c.786G>A (p.Thr262=) rs551782391 0.00006
NM_000081.4(LYST):c.3030A>G (p.Gly1010=) rs751511204 0.00006
NM_000081.4(LYST):c.3834G>A (p.Leu1278=) rs148542548 0.00006
NM_000081.4(LYST):c.5635-4A>G rs754201076 0.00006
NM_000081.4(LYST):c.7862T>C (p.Met2621Thr) rs368500877 0.00006
NM_000081.4(LYST):c.7911G>A (p.Thr2637=) rs140229368 0.00006
NM_000137.4(FAH):c.*138G>A rs374613273 0.00006
NM_000137.4(FAH):c.782C>T (p.Pro261Leu) rs80338898 0.00006
NM_000156.6(GAMT):c.133T>A (p.Trp45Arg) rs886054247 0.00006
NM_000156.6(GAMT):c.670G>A (p.Ala224Thr) rs141471799 0.00006
NM_000161.3(GCH1):c.*367G>A rs886050548 0.00006
NM_000161.3(GCH1):c.-125A>C rs886050554 0.00006
NM_000161.3(GCH1):c.582G>A (p.Thr194=) rs199836777 0.00006
NM_000162.5(GCK):c.363+10G>A rs758495950 0.00006
NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu) rs201135624 0.00006
NM_000170.3(GLDC):c.2028C>T (p.Ile676=) rs372604935 0.00006
NM_000170.3(GLDC):c.2919C>T (p.Leu973=) rs113736090 0.00006
NM_000170.3(GLDC):c.2920-8C>T rs138786708 0.00006
NM_000170.3(GLDC):c.78G>C (p.Ser26=) rs915226152 0.00006
NM_000178.4(GSS):c.-18A>G rs886056640 0.00006
NM_000182.5(HADHA):c.*403C>T rs146210168 0.00006
NM_000187.4(HGD):c.-19C>T rs376849236 0.00006
NM_000187.4(HGD):c.550-14G>C rs769000073 0.00006
NM_000187.4(HGD):c.794T>C (p.Val265Ala) rs554816026 0.00006
NM_000191.3(HMGCL):c.*414G>A rs886046310 0.00006
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter) rs763494292 0.00006
NM_000191.3(HMGCL):c.594C>T (p.Tyr198=) rs139799938 0.00006
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer) rs779339230 0.00006
NM_000195.5(HPS1):c.695C>T (p.Ala232Val) rs764420988 0.00006
NM_000207.3(INS):c.*28G>A rs778107057 0.00006
NM_000207.3(INS):c.*42C>T rs376867722 0.00006
NM_000275.3(OCA2):c.1027G>A (p.Ala343Thr) rs756251130 0.00006
NM_000275.3(OCA2):c.2043C>G (p.Thr681=) rs368126732 0.00006
NM_000275.3(OCA2):c.2080G>A (p.Ala694Thr) rs745803719 0.00006
NM_000275.3(OCA2):c.666C>T (p.His222=) rs751309779 0.00006
NM_000284.4(PDHA1):c.*1347C>T rs1241045421 0.00006
NM_000290.4(PGAM2):c.*35A>G rs374509693 0.00006
NM_000290.4(PGAM2):c.115A>C (p.Lys39Gln) rs147126221 0.00006
NM_000290.4(PGAM2):c.148A>C (p.Met50Leu) rs151308911 0.00006
NM_000352.6(ABCC8):c.1958G>A (p.Arg653Gln) rs146378237 0.00006
NM_000352.6(ABCC8):c.2422C>A (p.Gln808Lys) rs202189540 0.00006
NM_000352.6(ABCC8):c.2635G>A (p.Asp879Asn) rs531684936 0.00006
NM_000352.6(ABCC8):c.4239G>T (p.Pro1413=) rs373478721 0.00006
NM_000352.6(ABCC8):c.621C>T (p.Pro207=) rs765043940 0.00006
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln) rs185040406 0.00006
NM_000352.6(ABCC8):c.853C>T (p.Arg285Trp) rs773087569 0.00006
NM_000353.3(TAT):c.1090C>T (p.Arg364Trp) rs371975183 0.00006
NM_000353.3(TAT):c.231C>A (p.Ser77=) rs562235592 0.00006
NM_000360.4(TH):c.*54C>T rs1008333072 0.00006
NM_000360.4(TH):c.1228C>A (p.Arg410=) rs575326605 0.00006
NM_000360.4(TH):c.263C>T (p.Pro88Leu) rs150260759 0.00006
NM_000360.4(TH):c.550G>A (p.Asp184Asn) rs139807727 0.00006
NM_000365.6(TPI1):c.*253G>T rs782730165 0.00006
NM_000429.3(MAT1A):c.*1207T>C rs572585579 0.00006
NM_000429.3(MAT1A):c.204T>C (p.Cys68=) rs200574801 0.00006
NM_000429.3(MAT1A):c.227T>C (p.Met76Thr) rs572741145 0.00006
NM_000429.3(MAT1A):c.550-5G>A rs761943871 0.00006
NM_000458.4(HNF1B):c.36C>T (p.Leu12=) rs749370057 0.00006
NM_000481.4(AMT):c.91-9C>T rs761235679 0.00006
NM_000525.4(KCNJ11):c.451G>A (p.Val151Met) rs529884745 0.00006
NM_000545.8(HNF1A):c.*391G>C rs868177605 0.00006
NM_000545.8(HNF1A):c.1405C>T (p.His469Tyr) rs201811844 0.00006
NM_000545.8(HNF1A):c.1729C>G (p.His577Asp) rs376832928 0.00006
NM_000545.8(HNF1A):c.871C>T (p.Pro291Ser) rs151256267 0.00006
NM_000545.8(HNF1A):c.99G>A (p.Pro33=) rs538619966 0.00006
NM_000550.3(TYRP1):c.*944A>C rs967959444 0.00006
NM_000550.3(TYRP1):c.1097C>T (p.Thr366Met) rs199823942 0.00006
NM_000550.3(TYRP1):c.114T>A (p.Ser38Arg) rs749542038 0.00006
NM_000687.4(AHCY):c.663T>C (p.Tyr221=) rs58020044 0.00006
NM_000784.4(CYP27A1):c.536A>G (p.Asn179Ser) rs145080072 0.00006
NM_000784.4(CYP27A1):c.712G>A (p.Val238Met) rs199691576 0.00006
NM_000925.4(PDHB):c.*173C>T rs546485141 0.00006
NM_000925.4(PDHB):c.937C>G (p.Pro313Ala) rs201105914 0.00006
NM_001032386.2(SUOX):c.*369G>A rs569422582 0.00006
NM_001032386.2(SUOX):c.50+9G>A rs368327991 0.00006
NM_001080.3(ALDH5A1):c.525C>T (p.Tyr175=) rs372455508 0.00006
NM_001243177.4(ALDOA):c.1107C>T (p.Gly369=) rs142315181 0.00006
NM_001352514.2(HLCS):c.*168G>T rs118099059 0.00006
NM_001352514.2(HLCS):c.*3253C>T rs529403596 0.00006
NM_001352514.2(HLCS):c.1278G>A (p.Glu426=) rs548505968 0.00006
NM_001352514.2(HLCS):c.2352C>T (p.Ile784=) rs150263699 0.00006
NM_001358530.2(MOCS1):c.*1067A>C rs754337805 0.00006
NM_001358530.2(MOCS1):c.*142C>G rs751006327 0.00006
NM_001358530.2(MOCS1):c.*1832G>A rs757660047 0.00006
NM_001366110.1(PAX4):c.572G>A (p.Arg191His) rs145284016 0.00006
NM_001370658.1(BTD):c.1225G>A (p.Glu409Lys) rs770633850 0.00006
NM_001701.4(BAAT):c.*1205del rs760757882 0.00006
NM_001701.4(BAAT):c.*1316A>C rs755320451 0.00006
NM_001701.4(BAAT):c.*199A>T rs151035029 0.00006
NM_001701.4(BAAT):c.*668A>G rs760589835 0.00006
NM_001701.4(BAAT):c.761C>T (p.Thr254Met) rs768526453 0.00006
NM_001715.3(BLK):c.*324G>A rs886062600 0.00006
NM_001715.3(BLK):c.*348C>G rs564964151 0.00006
NM_001715.3(BLK):c.1057C>T (p.Arg353Cys) rs199696853 0.00006
NM_001875.5(CPS1):c.1478C>T (p.Thr493Ile) rs199878637 0.00006
NM_001875.5(CPS1):c.3682C>T (p.Arg1228Trp) rs367595060 0.00006
NM_001875.5(CPS1):c.4173G>A (p.Thr1391=) rs201710257 0.00006
NM_001902.6(CTH):c.*545C>T rs886046516 0.00006
NM_001902.6(CTH):c.*631C>T rs559469669 0.00006
NM_001902.6(CTH):c.589-3C>T rs201568449 0.00006
NM_001918.5(DBT):c.*1747A>G rs886044958 0.00006
NM_001918.5(DBT):c.*3455C>T rs886044949 0.00006
NM_001918.5(DBT):c.*551C>T rs756147809 0.00006
NM_001918.5(DBT):c.*5784T>C rs187688215 0.00006
NM_001918.5(DBT):c.*8734A>C rs564195699 0.00006
NM_001918.5(DBT):c.1127G>A (p.Arg376His) rs150934375 0.00006
NM_002108.4(HAL):c.*976T>G rs762280245 0.00006
NM_002108.4(HAL):c.1076G>A (p.Arg359His) rs181887143 0.00006
NM_002108.4(HAL):c.1428T>G (p.Asn476Lys) rs759917804 0.00006
NM_002108.4(HAL):c.181C>T (p.Leu61=) rs139361462 0.00006
NM_002108.4(HAL):c.276C>T (p.Asp92=) rs151299220 0.00006
NM_002108.4(HAL):c.429G>A (p.Glu143=) rs138613169 0.00006
NM_002108.4(HAL):c.484+1G>A rs746735988 0.00006
NM_002300.8(LDHB):c.585C>T (p.Gly195=) rs141629567 0.00006
NM_002500.5(NEUROD1):c.*907T>C rs747758950 0.00006
NM_002860.4(ALDH18A1):c.*293G>A rs913851343 0.00006
NM_002860.4(ALDH18A1):c.-140G>A rs931860076 0.00006
NM_002860.4(ALDH18A1):c.1596C>T (p.Ala532=) rs200730342 0.00006
NM_003124.5(SPR):c.328G>C (p.Gly110Arg) rs201651366 0.00006
NM_003477.2(PDHX):c.-342A>G rs567329509 0.00006
NM_003597.5(KLF11):c.1130C>T (p.Thr377Ile) rs370236540 0.00006
NM_003597.5(KLF11):c.1137C>G (p.Ser379Arg) rs199624763 0.00006
NM_003597.5(KLF11):c.1450G>A (p.Gly484Ser) rs750063435 0.00006
NM_003597.5(KLF11):c.673A>C (p.Ser225Arg) rs200061013 0.00006
NM_003597.5(KLF11):c.679A>G (p.Asn227Asp) rs200561467 0.00006
NM_003664.5(AP3B1):c.*507G>A rs865863660 0.00006
NM_003664.5(AP3B1):c.1749G>A (p.Pro583=) rs201238945 0.00006
NM_003748.4(ALDH4A1):c.*1182G>C rs956296596 0.00006
NM_003748.4(ALDH4A1):c.*223G>A rs553318512 0.00006
NM_003748.4(ALDH4A1):c.*900G>C rs796989099 0.00006
NM_003748.4(ALDH4A1):c.1082G>C (p.Trp361Ser) rs763793413 0.00006
NM_004531.5(MOCS2):c.*32C>G rs374748835 0.00006
NM_004577.4(PSPH):c.*278C>T rs183424432 0.00006
NM_004577.4(PSPH):c.-145-15A>G rs552907219 0.00006
NM_005271.5(GLUD1):c.1279-6G>A rs374548261 0.00006
NM_005271.5(GLUD1):c.1500A>G (p.Ala500=) rs756259685 0.00006
NM_005271.5(GLUD1):c.1652A>G (p.Asn551Ser) rs373705613 0.00006
NM_005327.7(HADH):c.*335C>A rs780532720 0.00006
NM_005518.4(HMGCS2):c.1420+13T>C rs771878586 0.00006
NM_005518.4(HMGCS2):c.364G>A (p.Asp122Asn) rs368014391 0.00006
NM_005518.4(HMGCS2):c.803G>A (p.Arg268Gln) rs371306326 0.00006
NM_005566.4(LDHA):c.406G>A (p.Val136Ile) rs184074326 0.00006
NM_005589.4(ALDH6A1):c.*558A>G rs1050633882 0.00006
NM_006623.3(PHGDH):c.-207G>A rs150128831 0.00006
NM_006623.4(PHGDH):c.*28G>A rs753765228 0.00006
NM_006623.4(PHGDH):c.809G>A (p.Arg270Gln) rs375031910 0.00006
NM_006721.4(ADK):c.66-23885T>A rs370191448 0.00006
NM_006721.4(ADK):c.66-23966T>C rs886047235 0.00006
NM_012463.4(ATP6V0A2):c.*1252A>G rs141136421 0.00006
NM_012463.4(ATP6V0A2):c.*1799A>C rs755729836 0.00006
NM_012463.4(ATP6V0A2):c.*2485C>T rs144043973 0.00006
NM_012463.4(ATP6V0A2):c.2333G>T (p.Gly778Val) rs762614200 0.00006
NM_012463.4(ATP6V0A2):c.603C>T (p.Ile201=) rs181112338 0.00006
NM_014049.5(ACAD9):c.693C>T (p.Val231=) rs778831368 0.00006
NM_014251.3(SLC25A13):c.*280G>T rs1427739478 0.00006
NM_014251.3(SLC25A13):c.790G>A (p.Val264Ile) rs531991442 0.00006
NM_014252.4(SLC25A15):c.*1562G>A rs1205190482 0.00006
NM_014252.4(SLC25A15):c.678G>A (p.Ala226=) rs183697658 0.00006
NM_015702.3(MMADHC):c.*241A>G rs528409808 0.00006
NM_015702.3(MMADHC):c.254A>G (p.Asn85Ser) rs767542742 0.00006
NM_015702.3(MMADHC):c.515A>C (p.Lys172Thr) rs147318949 0.00006
NM_016180.5(SLC45A2):c.264C>G (p.Val88=) rs149213379 0.00006
NM_018368.4(LMBRD1):c.1438A>G (p.Thr480Ala) rs138023744 0.00006
NM_018368.4(LMBRD1):c.562C>T (p.His188Tyr) rs554554993 0.00006
NM_020686.6(ABAT):c.*2074A>C rs191157077 0.00006
NM_020686.6(ABAT):c.*416C>T rs76000284 0.00006
NM_020686.6(ABAT):c.*717G>A rs563004736 0.00006
NM_020686.6(ABAT):c.25C>T (p.Arg9Cys) rs201701679 0.00006
NM_020686.6(ABAT):c.419T>C (p.Val140Ala) rs886052429 0.00006
NM_022081.6(HPS4):c.1014C>T (p.Pro338=) rs188300485 0.00006
NM_024747.6(HPS6):c.1152T>C (p.Phe384=) rs200681093 0.00006
NM_024747.6(HPS6):c.2029G>A (p.Glu677Lys) rs373272114 0.00006
NM_024747.6(HPS6):c.277G>T (p.Val93Leu) rs185571437 0.00006
NM_032383.5(HPS3):c.719G>A (p.Ser240Asn) rs750402363 0.00006
NM_053013.4(ENO3):c.1208G>A (p.Arg403His) rs561474067 0.00006
NM_054012.3(ASS1):c.-242G>C rs567339064 0.00006
NM_054012.4(ASS1):c.*58C>T rs183494785 0.00006
NM_054012.4(ASS1):c.458G>A (p.Arg153Gln) rs373239430 0.00006
NM_058179.4(PSAT1):c.*789A>G rs1057515674 0.00006
NM_175914.5(HNF4A):c.*1821C>T rs886056686 0.00006
NM_175914.5(HNF4A):c.321C>T (p.Ala107=) rs138290205 0.00006
NM_175914.5(HNF4A):c.381G>A (p.Leu127=) rs193922473 0.00006
NM_175914.5(HNF4A):c.624C>T (p.Leu208=) rs759084238 0.00006
NM_181507.2(HPS5):c.2521G>T (p.Val841Phe) rs142090060 0.00006
NM_181507.2(HPS5):c.285-10A>G rs200449378 0.00006
NM_183050.4(BCKDHB):c.*1908A>G rs368380717 0.00006
NM_183235.3(RAB27A):c.*1669A>G rs981927108 0.00006
NM_183235.3(RAB27A):c.*814G>A rs146798701 0.00006
NM_183235.3(RAB27A):c.213G>T (p.Gln71His) rs776920896 0.00006
NM_212552.3(BOLA3):c.*190G>A rs886056325 0.00006
NM_000018.4(ACADVL):c.1754C>T (p.Ala585Val) rs374729641 0.00005
NM_000048.4(ASL):c.-16C>T rs372229504 0.00005
NM_000048.4(ASL):c.1263G>A (p.Ser421=) rs542163407 0.00005
NM_000048.4(ASL):c.75C>T (p.Asn25=) rs370260834 0.00005
NM_000071.3(CBS):c.1494G>A (p.Arg498=) rs778800147 0.00005
NM_000096.4(CP):c.*912C>G rs149920453 0.00005
NM_000126.4(ETFA):c.-7G>A rs779643894 0.00005
NM_000156.6(GAMT):c.59G>C (p.Trp20Ser) rs80338734 0.00005
NM_000161.3(GCH1):c.*1824A>C rs754395380 0.00005
NM_000161.3(GCH1):c.543T>G (p.Val181=) rs765670568 0.00005
NM_000170.3(GLDC):c.1508A>C (p.Glu503Ala) rs201890453 0.00005
NM_000170.3(GLDC):c.270G>C (p.Leu90Phe) rs747736821 0.00005
NM_000170.3(GLDC):c.886C>A (p.Leu296Ile) rs200413149 0.00005
NM_000182.5(HADHA):c.1947T>A (p.Asn649Lys) rs777153382 0.00005
NM_000191.3(HMGCL):c.454G>A (p.Ala152Thr) rs146306707 0.00005
NM_000191.3(HMGCL):c.720A>G (p.Gln240=) rs911190800 0.00005
NM_000195.5(HPS1):c.742G>A (p.Glu248Lys) rs11189601 0.00005
NM_000274.4(OAT):c.1250C>T (p.Pro417Leu) rs121965044 0.00005
NM_000275.3(OCA2):c.1261C>T (p.Arg421Trp) rs372899234 0.00005
NM_000275.3(OCA2):c.1656C>T (p.His552=) rs777131634 0.00005
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys) rs121918169 0.00005
NM_000277.3(PAH):c.350C>T (p.Thr117Ile) rs281865439 0.00005
NM_000284.4(PDHA1):c.660C>T (p.Phe220=) rs745607005 0.00005
NM_000289.6(PFKM):c.722A>G (p.Glu241Gly) rs148544344 0.00005
NM_000290.4(PGAM2):c.596-3T>C rs367994618 0.00005
NM_000298.6(PKLR):c.122G>A (p.Arg41Gln) rs374805791 0.00005
NM_000298.6(PKLR):c.731G>A (p.Gly244Asp) rs774192277 0.00005
NM_000352.6(ABCC8):c.1067A>G (p.Tyr356Cys) rs59852838 0.00005
NM_000352.6(ABCC8):c.1537G>A (p.Ala513Thr) rs761748692 0.00005
NM_000360.4(TH):c.398G>A (p.Arg133His) rs376881948 0.00005
NM_000360.4(TH):c.71A>G (p.Lys24Arg) rs768206231 0.00005
NM_000429.3(MAT1A):c.*1382G>A rs886047307 0.00005
NM_000429.3(MAT1A):c.*523T>C rs886047315 0.00005
NM_000429.3(MAT1A):c.*862C>T rs886047311 0.00005
NM_000531.6(OTC):c.621C>T (p.Ser207=) rs72558415 0.00005
NM_000550.3(TYRP1):c.1505G>A (p.Arg502His) rs371392847 0.00005
NM_000709.4(BCKDHA):c.*126G>A rs748757436 0.00005
NM_000925.4(PDHB):c.448G>T (p.Ala150Ser) rs139242990 0.00005
NM_001002755.2(NFU1):c.-179C>G rs992843651 0.00005
NM_001032386.2(SUOX):c.-11+1672T>A rs886049681 0.00005
NM_001033044.4(GLUL):c.*2365G>A rs140748780 0.00005
NM_001033044.4(GLUL):c.*2463C>A rs886045600 0.00005
NM_001033044.4(GLUL):c.-14+958G>A rs549137282 0.00005
NM_001080.3(ALDH5A1):c.*1918G>A rs559549612 0.00005
NM_001080.3(ALDH5A1):c.*2861G>A rs886061280 0.00005
NM_001080.3(ALDH5A1):c.*2869T>G rs189158766 0.00005
NM_001080.3(ALDH5A1):c.*3120T>C rs1201326402 0.00005
NM_001080.3(ALDH5A1):c.*3146C>T rs567288319 0.00005
NM_001080.3(ALDH5A1):c.1169A>G (p.Glu390Gly) rs142677472 0.00005
NM_001352514.2(HLCS):c.*1756C>T rs748180401 0.00005
NM_001352514.2(HLCS):c.*1953A>G rs767162730 0.00005
NM_001352514.2(HLCS):c.*2945C>T rs71332549 0.00005
NM_001352514.2(HLCS):c.*490C>T rs376741921 0.00005
NM_001352514.2(HLCS):c.1327G>A (p.Val443Ile) rs200629955 0.00005
NM_001352514.2(HLCS):c.1857C>A (p.Ala619=) rs759178651 0.00005
NM_001358530.2(MOCS1):c.*1884G>A rs764874736 0.00005
NM_001358530.2(MOCS1):c.162G>A (p.Ala54=) rs200316862 0.00005
NM_001370658.1(BTD):c.48C>T (p.Tyr16=) rs201823743 0.00005
NM_001370658.1(BTD):c.847C>T (p.His283Tyr) rs144084212 0.00005
NM_001701.4(BAAT):c.*1422A>G rs1393040270 0.00005
NM_001701.4(BAAT):c.797T>C (p.Ile266Thr) rs539433580 0.00005
NM_001715.3(BLK):c.*376C>T rs886062601 0.00005
NM_001715.3(BLK):c.369-2A>G rs137986278 0.00005
NM_001875.5(CPS1):c.*658A>G rs559191307 0.00005
NM_001875.5(CPS1):c.*848G>A rs142796725 0.00005
NM_001875.5(CPS1):c.3121C>T (p.Leu1041=) rs146064786 0.00005
NM_001902.6(CTH):c.724+10A>G rs763424314 0.00005
NM_001918.5(DBT):c.*4864C>T rs920810590 0.00005
NM_001918.5(DBT):c.*9230T>C rs893701906 0.00005
NM_001918.5(DBT):c.1111G>A (p.Ala371Thr) rs777868718 0.00005
NM_001918.5(DBT):c.291C>T (p.Ser97=) rs201318480 0.00005
NM_002108.4(HAL):c.*132C>T rs140039557 0.00005
NM_002108.4(HAL):c.751G>A (p.Val251Ile) rs769377973 0.00005
NM_002108.4(HAL):c.904-5G>A rs189938038 0.00005
NM_002150.3(HPD):c.836G>A (p.Arg279His) rs140144597 0.00005
NM_002150.3(HPD):c.914C>T (p.Thr305Met) rs200010805 0.00005
NM_003060.4(SLC22A5):c.844C>T (p.Arg282Ter) rs121908886 0.00005
NM_003060.4(SLC22A5):c.892C>T (p.Arg298Cys) rs755114089 0.00005
NM_003124.5(SPR):c.536T>C (p.Met179Thr) rs780440681 0.00005
NM_003477.3(PDHX):c.242-4G>A rs199583315 0.00005
NM_003477.3(PDHX):c.402A>G (p.Glu134=) rs768560478 0.00005
NM_003597.5(KLF11):c.1169G>A (p.Arg390Gln) rs563767876 0.00005
NM_003597.5(KLF11):c.1304T>A (p.Phe435Tyr) rs752588055 0.00005
NM_003664.5(AP3B1):c.1704C>T (p.Tyr568=) rs376978572 0.00005
NM_003748.4(ALDH4A1):c.*1199A>C rs886045701 0.00005
NM_003748.4(ALDH4A1):c.1252G>C (p.Gly418Arg) rs148586081 0.00005
NM_003748.4(ALDH4A1):c.421G>A (p.Ala141Thr) rs377259750 0.00005
NM_004577.4(PSPH):c.*309A>G rs886062388 0.00005
NM_004577.4(PSPH):c.*588G>A rs751911806 0.00005
NM_005327.7(HADH):c.132+7G>T rs534966818 0.00005
NM_005566.4(LDHA):c.*311C>T rs200079157 0.00005
NM_006623.4(PHGDH):c.372G>A (p.Ala124=) rs146740411 0.00005
NM_006623.4(PHGDH):c.916A>G (p.Met306Val) rs587648058 0.00005
NM_012463.4(ATP6V0A2):c.*643C>T rs377386130 0.00005
NM_014049.5(ACAD9):c.1650C>G (p.Ala550=) rs559422558 0.00005
NM_014251.2(SLC25A13):c.-160C>T rs542691034 0.00005
NM_014251.2(SLC25A13):c.-205G>T rs1035906140 0.00005
NM_014251.3(SLC25A13):c.635C>T (p.Ser212Phe) rs137944390 0.00005
NM_016180.5(SLC45A2):c.1090G>A (p.Glu364Lys) rs201140684 0.00005
NM_016180.5(SLC45A2):c.310C>T (p.Pro104Ser) rs372381365 0.00005
NM_016180.5(SLC45A2):c.627A>G (p.Arg209=) rs755956613 0.00005
NM_018368.4(LMBRD1):c.-117C>T rs550933505 0.00005
NM_020166.5(MCCC1):c.1941C>T (p.Gly647=) rs199528231 0.00005
NM_022081.6(HPS4):c.1232G>A (p.Ser411Asn) rs201043011 0.00005
NM_022081.6(HPS4):c.1857G>A (p.Pro619=) rs373421312 0.00005
NM_024747.6(HPS6):c.2231G>T (p.Gly744Val) rs770148492 0.00005
NM_032383.5(HPS3):c.-50C>T rs750659280 0.00005
NM_032383.5(HPS3):c.677A>G (p.His226Arg) rs188661079 0.00005
NM_058179.4(PSAT1):c.370G>A (p.Val124Ile) rs140897665 0.00005
NM_153006.3(NAGS):c.*382C>T rs923164970 0.00005
NM_175914.5(HNF4A):c.*2182G>A rs138556808 0.00005
NM_181507.2(HPS5):c.*157G>A rs916119305 0.00005
NM_181507.2(HPS5):c.1075C>T (p.Arg359Cys) rs143073506 0.00005
NM_181507.2(HPS5):c.2461G>T (p.Val821Leu) rs373228021 0.00005
NM_000016.6(ACADM):c.287-10G>C rs368875210 0.00004
NM_000016.6(ACADM):c.57T>C (p.His19=) rs762984318 0.00004
NM_000017.4(ACADS):c.*10G>A rs761682729 0.00004
NM_000017.4(ACADS):c.*37C>T rs377080695 0.00004
NM_000017.4(ACADS):c.1104C>T (p.Gly368=) rs200165866 0.00004
NM_000017.4(ACADS):c.663G>T (p.Gly221=) rs751023929 0.00004
NM_000018.4(ACADVL):c.109C>T (p.Arg37Trp) rs536992268 0.00004
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp) rs745832866 0.00004
NM_000045.4(ARG1):c.944T>C (p.Ile315Thr) rs202219126 0.00004
NM_000048.4(ASL):c.*11A>G rs199571661 0.00004
NM_000048.4(ASL):c.-34A>G rs913916151 0.00004
NM_000048.4(ASL):c.656-6C>G rs374259737 0.00004
NM_000081.4(LYST):c.110C>T (p.Thr37Met) rs375106444 0.00004
NM_000081.4(LYST):c.11354G>A (p.Arg3785His) rs370173269 0.00004
NM_000081.4(LYST):c.4705A>C (p.Asn1569His) rs767687843 0.00004
NM_000108.5(DLD):c.*1876G>A rs142001971 0.00004
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter) rs769976586 0.00004
NM_000137.4(FAH):c.484C>T (p.Arg162Cys) rs959533704 0.00004
NM_000137.4(FAH):c.81+8G>A rs188046704 0.00004
NM_000156.6(GAMT):c.419C>T (p.Ser140Leu) rs747656257 0.00004
NM_000161.3(GCH1):c.*1010C>T rs764569623 0.00004
NM_000161.3(GCH1):c.*1058G>A rs995386735 0.00004
NM_000161.3(GCH1):c.*441G>A rs146536998 0.00004
NM_000161.3(GCH1):c.-106G>A rs886050553 0.00004
NM_000161.3(GCH1):c.586G>T (p.Ala196Ser) rs104894436 0.00004
NM_000162.5(GCK):c.*678G>T rs555058443 0.00004
NM_000170.3(GLDC):c.-21C>T rs1057515609 0.00004
NM_000170.3(GLDC):c.1424C>T (p.Thr475Ile) rs750883330 0.00004
NM_000170.3(GLDC):c.1483-15G>C rs371777070 0.00004
NM_000170.3(GLDC):c.150G>A (p.Ser50=) rs768354829 0.00004
NM_000170.3(GLDC):c.1626A>G (p.Glu542=) rs779537709 0.00004
NM_000178.4(GSS):c.*181C>T rs773689812 0.00004
NM_000178.4(GSS):c.491G>A (p.Arg164Gln) rs121909307 0.00004
NM_000182.5(HADHA):c.1788G>A (p.Ala596=) rs190409957 0.00004
NM_000182.5(HADHA):c.585T>A (p.Pro195=) rs202034466 0.00004
NM_000182.5(HADHA):c.858G>A (p.Val286=) rs373864418 0.00004
NM_000187.4(HGD):c.*145C>T rs1011081332 0.00004
NM_000187.4(HGD):c.1027A>C (p.Met343Leu) rs755078457 0.00004
NM_000187.4(HGD):c.177-5T>C rs768308376 0.00004
NM_000195.5(HPS1):c.*589G>A rs540367850 0.00004
NM_000195.5(HPS1):c.*691G>A rs1012331153 0.00004
NM_000195.5(HPS1):c.204C>T (p.Thr68=) rs149759513 0.00004
NM_000274.3(OAT):c.-104T>C rs886046813 0.00004
NM_000275.3(OCA2):c.*21G>A rs369189827 0.00004
NM_000275.3(OCA2):c.1183A>C (p.Met395Leu) rs757286784 0.00004
NM_000275.3(OCA2):c.1303G>A (p.Val435Ile) rs549399707 0.00004
NM_000275.3(OCA2):c.85G>A (p.Ala29Thr) rs759291231 0.00004
NM_000277.3(PAH):c.261C>A (p.Ser87Arg) rs62516151 0.00004
NM_000277.3(PAH):c.727C>T (p.Arg243Ter) rs5030846 0.00004
NM_000284.4(PDHA1):c.291+12G>A rs755244308 0.00004
NM_000289.6(PFKM):c.59T>C (p.Val20Ala) rs755992543 0.00004
NM_000290.4(PGAM2):c.571C>T (p.Arg191Trp) rs368258088 0.00004
NM_000298.6(PKLR):c.*342C>T rs879040355 0.00004
NM_000298.6(PKLR):c.*346_*348del rs556763356 0.00004
NM_000352.6(ABCC8):c.1643C>T (p.Thr548Met) rs763794263 0.00004
NM_000352.6(ABCC8):c.2500C>T (p.Arg834Cys) rs140068774 0.00004
NM_000352.6(ABCC8):c.4008G>C (p.Lys1336Asn) rs67767715 0.00004
NM_000352.6(ABCC8):c.4647C>T (p.Ile1549=) rs367862706 0.00004
NM_000353.3(TAT):c.*713T>G rs188382310 0.00004
NM_000353.3(TAT):c.-12-4G>A rs372540650 0.00004
NM_000360.4(TH):c.1402G>A (p.Val468Met) rs1800033 0.00004
NM_000360.4(TH):c.1470C>G (p.Ala490=) rs777477661 0.00004
NM_000360.4(TH):c.304G>T (p.Val102Leu) rs372077622 0.00004
NM_000360.4(TH):c.313-9C>T rs538345855 0.00004
NM_000360.4(TH):c.599G>A (p.Arg200His) rs201224335 0.00004
NM_000365.6(TPI1):c.261C>T (p.Cys87=) rs370863694 0.00004
NM_000372.5(TYR):c.-37G>A rs755069000 0.00004
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904 0.00004
NM_000372.5(TYR):c.833G>A (p.Arg278Gln) rs753384336 0.00004
NM_000372.5(TYR):c.980A>G (p.Tyr327Cys) rs1031268531 0.00004
NM_000387.6(SLC25A20):c.-80G>C rs551279923 0.00004
NM_000429.3(MAT1A):c.*1100C>G rs749044598 0.00004
NM_000429.3(MAT1A):c.*1691T>C rs1010939016 0.00004
NM_000429.3(MAT1A):c.*414C>G rs886047316 0.00004
NM_000429.3(MAT1A):c.*727T>C rs886047314 0.00004
NM_000429.3(MAT1A):c.241C>T (p.Arg81Trp) rs750570720 0.00004
NM_000481.4(AMT):c.*407T>C rs761498529 0.00004
NM_000481.4(AMT):c.195C>T (p.His65=) rs145243292 0.00004
NM_000481.4(AMT):c.403A>G (p.Thr135Ala) rs768698117 0.00004
NM_000545.8(HNF1A):c.1015G>A (p.Gly339Ser) rs766790596 0.00004
NM_000545.8(HNF1A):c.1310-12C>T rs193922579 0.00004
NM_000550.3(TYRP1):c.-111T>C rs920991316 0.00004
NM_000550.3(TYRP1):c.-167G>A rs181711630 0.00004
NM_000550.3(TYRP1):c.689G>A (p.Arg230His) rs372466491 0.00004
NM_000550.3(TYRP1):c.926G>A (p.Gly309Glu) rs149856598 0.00004
NM_000709.4(BCKDHA):c.*213G>A rs766667517 0.00004
NM_000709.4(BCKDHA):c.*68G>A rs375492462 0.00004
NM_000709.4(BCKDHA):c.1192G>A (p.Glu398Lys) rs201168715 0.00004
NM_000709.4(BCKDHA):c.436G>A (p.Ala146Thr) rs373078413 0.00004
NM_000784.4(CYP27A1):c.545T>C (p.Ile182Thr) rs556745324 0.00004
NM_001002755.4(NFU1):c.629G>T (p.Cys210Phe) rs201634470 0.00004
NM_001032386.2(SUOX):c.1282G>A (p.Ala428Thr) rs553699159 0.00004
NM_001032386.2(SUOX):c.822G>C (p.Gln274His) rs146481076 0.00004
NM_001033044.4(GLUL):c.*1692A>G rs886045607 0.00004
NM_001033044.4(GLUL):c.*1978G>A rs868130362 0.00004
NM_001033044.4(GLUL):c.*722A>C rs911761889 0.00004
NM_001033044.4(GLUL):c.-56C>T rs886045620 0.00004
NM_001033044.4(GLUL):c.930C>T (p.Asn310=) rs369280031 0.00004
NM_001080.3(ALDH5A1):c.*1248C>G rs183328132 0.00004
NM_001080.3(ALDH5A1):c.*1851C>T rs1038337724 0.00004
NM_001080.3(ALDH5A1):c.*2488G>A rs1002588077 0.00004
NM_001080.3(ALDH5A1):c.*3277C>T rs886061282 0.00004
NM_001080.3(ALDH5A1):c.*960C>T rs879652592 0.00004
NM_001080.3(ALDH5A1):c.*980T>C rs886061274 0.00004
NM_001080.3(ALDH5A1):c.583A>G (p.Ile195Val) rs759237061 0.00004
NM_001080.3(ALDH5A1):c.589G>A (p.Val197Met) rs768219929 0.00004
NM_001080.3(ALDH5A1):c.924C>T (p.Gly308=) rs188108571 0.00004
NM_001243177.4(ALDOA):c.312G>A (p.Glu104=) rs779556052 0.00004
NM_001352514.2(HLCS):c.*1089G>A rs146991267 0.00004
NM_001352514.2(HLCS):c.*1094T>C rs780432651 0.00004
NM_001352514.2(HLCS):c.*1097G>A rs886057070 0.00004
NM_001352514.2(HLCS):c.2583C>T (p.Phe861=) rs532108774 0.00004
NM_001352514.2(HLCS):c.494-9A>G rs376397597 0.00004
NM_001352514.2(HLCS):c.574C>G (p.Pro192Ala) rs200950813 0.00004
NM_001352514.2(HLCS):c.918A>G (p.Gly306=) rs767988985 0.00004
NM_001358530.2(MOCS1):c.*1307A>G rs1038982726 0.00004
NM_001358530.2(MOCS1):c.*327G>A rs112129067 0.00004
NM_001358530.2(MOCS1):c.*664T>C rs148100667 0.00004
NM_001358530.2(MOCS1):c.1687C>G (p.Gln563Glu) rs777476892 0.00004
NM_001358530.2(MOCS1):c.1714C>T (p.Arg572Cys) rs574721812 0.00004
NM_001358530.2(MOCS1):c.583+7G>A rs150131853 0.00004
NM_001482.3(GATM):c.1030A>G (p.Ile344Val) rs747608698 0.00004
NM_001701.4(BAAT):c.126C>A (p.Asp42Glu) rs765137433 0.00004
NM_001701.4(BAAT):c.178C>T (p.Leu60=) rs374248798 0.00004
NM_001701.4(BAAT):c.390G>T (p.Arg130Ser) rs551090726 0.00004
NM_001715.3(BLK):c.*371C>A rs774038408 0.00004
NM_001715.3(BLK):c.-201G>A rs1468476015 0.00004
NM_001715.3(BLK):c.-47C>T rs150444590 0.00004
NM_001715.3(BLK):c.153G>A (p.Pro51=) rs746710451 0.00004
NM_001715.3(BLK):c.465C>G (p.Thr155=) rs375035401 0.00004
NM_001715.3(BLK):c.639C>T (p.Cys213=) rs779263158 0.00004
NM_001715.3(BLK):c.672C>T (p.Ala224=) rs201252364 0.00004
NM_001715.3(BLK):c.810G>A (p.Thr270=) rs749767699 0.00004
NM_001875.5(CPS1):c.-4C>A rs768210605 0.00004
NM_001875.5(CPS1):c.4404+5A>T rs375785288 0.00004
NM_001875.5(CPS1):c.712-11C>T rs561995236 0.00004
NM_001902.6(CTH):c.*260T>C rs768499542 0.00004
NM_001902.6(CTH):c.430G>C (p.Glu144Gln) rs773089704 0.00004
NM_001918.5(DBT):c.*293C>T rs1017324148 0.00004
NM_001918.5(DBT):c.*3586A>G rs541279304 0.00004
NM_001918.5(DBT):c.*8080C>G rs1018443361 0.00004
NM_001918.5(DBT):c.*8226G>T rs560160662 0.00004
NM_002108.4(HAL):c.-5G>A rs199707823 0.00004
NM_002108.4(HAL):c.623G>A (p.Arg208Gln) rs121434328 0.00004
NM_002108.4(HAL):c.86G>A (p.Arg29Gln) rs146640236 0.00004
NM_002150.3(HPD):c.5C>T (p.Thr2Met) rs774495352 0.00004
NM_002150.3(HPD):c.915G>A (p.Thr305=) rs751753975 0.00004
NM_002300.8(LDHB):c.375C>T (p.Ile125=) rs141707607 0.00004
NM_002500.5(NEUROD1):c.*718C>T rs886055320 0.00004
NM_002500.5(NEUROD1):c.-81C>T rs567688779 0.00004
NM_002500.5(NEUROD1):c.973C>A (p.Arg325Ser) rs368727469 0.00004
NM_002860.4(ALDH18A1):c.1368C>T (p.Arg456=) rs369979669 0.00004
NM_002860.4(ALDH18A1):c.1393G>A (p.Glu465Lys) rs757876226 0.00004
NM_002860.4(ALDH18A1):c.304-3C>T rs188362786 0.00004
NM_003060.4(SLC22A5):c.*74G>A rs565654675 0.00004
NM_003060.4(SLC22A5):c.-30G>C rs758034537 0.00004
NM_003060.4(SLC22A5):c.1113C>T (p.Asp371=) rs200637508 0.00004
NM_003060.4(SLC22A5):c.1319C>T (p.Thr440Met) rs72552732 0.00004
NM_003060.4(SLC22A5):c.811G>A (p.Val271Met) rs143013773 0.00004
NM_003124.5(SPR):c.-4G>C rs778710354 0.00004
NM_003477.3(PDHX):c.1188A>G (p.Leu396=) rs200434738 0.00004
NM_003597.5(KLF11):c.*1990T>C rs911685125 0.00004
NM_003597.5(KLF11):c.1259-2_1259-1del rs770555623 0.00004
NM_003597.5(KLF11):c.689C>T (p.Ser230Phe) rs370039403 0.00004
NM_003664.5(AP3B1):c.196A>G (p.Ile66Val) rs779404585 0.00004
NM_003664.5(AP3B1):c.32A>G (p.Gln11Arg) rs764312417 0.00004
NM_003664.5(AP3B1):c.388C>T (p.Leu130=) rs138774723 0.00004
NM_003748.4(ALDH4A1):c.*944C>T rs886045703 0.00004
NM_003748.4(ALDH4A1):c.1186-11G>A rs375847104 0.00004
NM_003748.4(ALDH4A1):c.381C>G (p.Ile127Met) rs147348663 0.00004
NM_004453.4(ETFDH):c.488-12A>C rs180889150 0.00004
NM_004531.5(MOCS2):c.*722T>C rs1334537812 0.00004
NM_004531.5(MOCS2):c.261C>T (p.Val87=) rs777565219 0.00004
NM_004531.5(MOCS2):c.415G>A (p.Val139Met) rs199581021 0.00004
NM_004577.4(PSPH):c.*316C>T rs190483183 0.00004
NM_004577.4(PSPH):c.*371A>G rs564916020 0.00004
NM_004577.4(PSPH):c.*649A>C rs766855269 0.00004
NM_005327.7(HADH):c.*59G>A rs529762487 0.00004
NM_005327.7(HADH):c.710-14C>T rs185267497 0.00004
NM_005518.4(HMGCS2):c.1270C>T (p.Arg424Ter) rs137852637 0.00004
NM_005518.4(HMGCS2):c.1325C>T (p.Thr442Ile) rs765680777 0.00004
NM_005518.4(HMGCS2):c.595G>A (p.Val199Ile) rs150140061 0.00004
NM_005566.4(LDHA):c.*666C>T rs923756666 0.00004
NM_005566.4(LDHA):c.*745T>C rs867222703 0.00004
NM_005566.4(LDHA):c.951G>A (p.Lys317=) rs145889467 0.00004
NM_005589.4(ALDH6A1):c.646G>A (p.Gly216Arg) rs199899407 0.00004
NM_005957.5(MTHFR):c.155G>A (p.Arg52Gln) rs754980119 0.00004
NM_006721.4(ADK):c.*296G>A rs527621742 0.00004
NM_012463.4(ATP6V0A2):c.*1828C>G rs886049068 0.00004
NM_012463.4(ATP6V0A2):c.*709C>T rs547048918 0.00004
NM_012463.4(ATP6V0A2):c.-148C>T rs886049059 0.00004
NM_012463.4(ATP6V0A2):c.1565C>T (p.Pro522Leu) rs371908109 0.00004
NM_012463.4(ATP6V0A2):c.2439G>A (p.Ala813=) rs200933894 0.00004
NM_012463.4(ATP6V0A2):c.26C>T (p.Thr9Ile) rs752689489 0.00004
NM_012463.4(ATP6V0A2):c.312C>T (p.Leu104=) rs563333869 0.00004
NM_012463.4(ATP6V0A2):c.791A>G (p.Glu264Gly) rs201247720 0.00004
NM_014049.5(ACAD9):c.1258C>T (p.Arg420Cys) rs202147766 0.00004
NM_014049.5(ACAD9):c.778G>A (p.Glu260Lys) rs199504238 0.00004
NM_014049.5(ACAD9):c.907G>A (p.Gly303Ser) rs143383023 0.00004
NM_014251.3(SLC25A13):c.421G>A (p.Glu141Lys) rs1131697 0.00004
NM_014252.4(SLC25A15):c.*1982A>C rs886050247 0.00004
NM_014252.4(SLC25A15):c.255C>T (p.Tyr85=) rs536354947 0.00004
NM_014252.4(SLC25A15):c.334G>A (p.Ala112Thr) rs747998866 0.00004
NM_015702.3(MMADHC):c.696+13C>A rs199528296 0.00004
NM_016180.5(SLC45A2):c.1156+7C>T rs767910207 0.00004
NM_016180.5(SLC45A2):c.528G>A (p.Lys176=) rs375319565 0.00004
NM_018368.4(LMBRD1):c.1501T>C (p.Phe501Leu) rs776133587 0.00004
NM_020166.5(MCCC1):c.1282G>A (p.Val428Met) rs150943644 0.00004
NM_020686.6(ABAT):c.*1907A>G rs886052442 0.00004
NM_020686.6(ABAT):c.*493C>T rs781153961 0.00004
NM_020686.6(ABAT):c.*539C>T rs548945558 0.00004
NM_020686.6(ABAT):c.-127C>G rs937622924 0.00004
NM_020686.6(ABAT):c.555G>A (p.Gly185=) rs147765799 0.00004
NM_022081.6(HPS4):c.*1359A>T rs886057298 0.00004
NM_022081.6(HPS4):c.*1576C>T rs886057297 0.00004
NM_022081.6(HPS4):c.*842G>A rs887874663 0.00004
NM_022081.6(HPS4):c.*946G>A rs1014910744 0.00004
NM_022081.6(HPS4):c.1897G>A (p.Val633Ile) rs202222123 0.00004
NM_022081.6(HPS4):c.570C>T (p.Leu190=) rs201820144 0.00004
NM_022081.6(HPS4):c.680C>T (p.Thr227Met) rs201806802 0.00004
NM_024747.6(HPS6):c.1606A>G (p.Arg536Gly) rs757589760 0.00004
NM_032383.5(HPS3):c.632T>C (p.Leu211Pro) rs752370839 0.00004
NM_032383.5(HPS3):c.700C>T (p.Arg234Trp) rs371986139 0.00004
NM_053013.4(ENO3):c.11A>C (p.Gln4Pro) rs138211167 0.00004
NM_053013.4(ENO3):c.774T>G (p.Asp258Glu) rs763327091 0.00004
NM_054012.4(ASS1):c.564C>T (p.Ile188=) rs2297599 0.00004
NM_054012.4(ASS1):c.566+11C>T rs200527708 0.00004
NM_054012.4(ASS1):c.892del (p.Glu298fs) rs770362721 0.00004
NM_058179.4(PSAT1):c.*293A>G rs1263262669 0.00004
NM_058179.4(PSAT1):c.231A>T (p.Gly77=) rs762436279 0.00004
NM_153006.3(NAGS):c.429G>A (p.Val143=) rs199976538 0.00004
NM_153006.3(NAGS):c.8C>T (p.Thr3Met) rs958791517 0.00004
NM_153006.3(NAGS):c.940G>A (p.Ala314Thr) rs186127828 0.00004
NM_175914.5(HNF4A):c.*1828G>A rs759101859 0.00004
NM_175914.5(HNF4A):c.*1C>A rs201330472 0.00004
NM_175914.5(HNF4A):c.*2297C>A rs1341485123 0.00004
NM_175914.5(HNF4A):c.1216+6C>A rs778818487 0.00004
NM_175914.5(HNF4A):c.50-4700G>A rs568730599 0.00004
NM_175914.5(HNF4A):c.863G>A (p.Arg288Gln) rs371124358 0.00004
NM_181507.2(HPS5):c.3364C>T (p.Arg1122Trp) rs754189788 0.00004
NM_181507.2(HPS5):c.535G>A (p.Val179Ile) rs373277149 0.00004
NM_183235.3(RAB27A):c.-142-84C>T rs992388018 0.00004
NM_183235.3(RAB27A):c.168T>C (p.Ser56=) rs376232909 0.00004
NM_000016.5(ACADM):c.-92A>G rs567983446 0.00003
NM_000017.4(ACADS):c.508G>T (p.Ala170Ser) rs765604622 0.00003
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His) rs112406105 0.00003
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp) rs118204014 0.00003
NM_000018.4(ACADVL):c.298C>G (p.Gln100Glu) rs750675692 0.00003
NM_000018.4(ACADVL):c.343-14T>C rs200368309 0.00003
NM_000045.4(ARG1):c.383A>G (p.Asp128Gly) rs140549609 0.00003
NM_000048.4(ASL):c.748A>G (p.Met250Val) rs374908945 0.00003
NM_000071.3(CBS):c.1205T>C (p.Leu402Pro) rs371214833 0.00003
NM_000071.3(CBS):c.924C>T (p.Tyr308=) rs149809170 0.00003
NM_000081.4(LYST):c.10758C>T (p.Cys3586=) rs145136281 0.00003
NM_000081.4(LYST):c.1996A>G (p.Ser666Gly) rs140284566 0.00003
NM_000081.4(LYST):c.4566A>C (p.Ala1522=) rs142344106 0.00003
NM_000081.4(LYST):c.4632C>T (p.Ser1544=) rs373930104 0.00003
NM_000081.4(LYST):c.8497G>A (p.Ala2833Thr) rs200813210 0.00003
NM_000126.4(ETFA):c.720A>G (p.Gln240=) rs756864231 0.00003
NM_000126.4(ETFA):c.728C>G (p.Ala243Gly) rs202121622 0.00003
NM_000137.4(FAH):c.1029G>A (p.Gly343=) rs772334351 0.00003
NM_000156.6(GAMT):c.*116C>T rs902990738 0.00003
NM_000156.6(GAMT):c.*292C>T rs908073212 0.00003
NM_000156.6(GAMT):c.522G>A (p.Trp174Ter) rs370421531 0.00003
NM_000156.6(GAMT):c.622C>T (p.Arg208Cys) rs778279369 0.00003
NM_000161.3(GCH1):c.509+8T>A rs753570450 0.00003
NM_000162.5(GCK):c.-279C>T rs997877536 0.00003
NM_000162.5(GCK):c.198A>G (p.Pro66=) rs377410513 0.00003
NM_000170.3(GLDC):c.*345G>T rs1383579539 0.00003
NM_000170.3(GLDC):c.1166C>T (p.Ala389Val) rs121964979 0.00003
NM_000170.3(GLDC):c.13G>C (p.Ala5Pro) rs1358259956 0.00003
NM_000170.3(GLDC):c.1453T>C (p.Leu485=) rs760562478 0.00003
NM_000170.3(GLDC):c.1925C>T (p.Thr642Met) rs141153261 0.00003
NM_000170.3(GLDC):c.2137G>A (p.Val713Met) rs912659426 0.00003
NM_000170.3(GLDC):c.2926G>A (p.Val976Met) rs150624881 0.00003
NM_000178.4(GSS):c.*183C>T rs1443092820 0.00003
NM_000182.5(HADHA):c.*182C>T rs1013194171 0.00003
NM_000182.5(HADHA):c.41C>T (p.Ser14Phe) rs765213828 0.00003
NM_000187.3(HGD):c.-446G>T rs541656880 0.00003
NM_000187.4(HGD):c.-100G>A rs547960368 0.00003
NM_000187.4(HGD):c.688C>T (p.Pro230Ser) rs28942100 0.00003
NM_000187.4(HGD):c.765T>C (p.Ala255=) rs747764475 0.00003
NM_000187.4(HGD):c.920G>A (p.Arg307His) rs752719362 0.00003
NM_000191.3(HMGCL):c.349-3C>A rs777476731 0.00003
NM_000195.5(HPS1):c.*327G>A rs886046590 0.00003
NM_000195.5(HPS1):c.1239G>T (p.Pro413=) rs777125097 0.00003
NM_000195.5(HPS1):c.256-4G>A rs372404024 0.00003
NM_000195.5(HPS1):c.468C>T (p.Tyr156=) rs772192145 0.00003
NM_000195.5(HPS1):c.692C>T (p.Pro231Leu) rs773953162 0.00003
NM_000207.3(INS):c.130G>A (p.Gly44Arg) rs765512575 0.00003
NM_000207.3(INS):c.66C>T (p.Ala22=) rs375371953 0.00003
NM_000274.4(OAT):c.314T>C (p.Val105Ala) rs199957428 0.00003
NM_000277.3(PAH):c.311C>A (p.Ala104Asp) rs62642929 0.00003
NM_000277.3(PAH):c.71A>G (p.Tyr24Cys) rs539994406 0.00003
NM_000284.4(PDHA1):c.69G>A (p.Val23=) rs770667770 0.00003
NM_000289.6(PFKM):c.*668G>T rs535423254 0.00003
NM_000298.6(PKLR):c.*1105G>A rs937795186 0.00003
NM_000298.6(PKLR):c.1250C>T (p.Ala417Val) rs756549612 0.00003
NM_000298.6(PKLR):c.1303C>T (p.Arg435Trp) rs142238268 0.00003
NM_000298.6(PKLR):c.790C>T (p.Leu264=) rs199959447 0.00003
NM_000298.6(PKLR):c.918C>A (p.His306Gln) rs141571402 0.00003
NM_000320.3(QDPR):c.359A>G (p.His120Arg) rs148369556 0.00003
NM_000352.6(ABCC8):c.2206G>T (p.Ala736Ser) rs191697443 0.00003
NM_000352.6(ABCC8):c.3462C>T (p.Ala1154=) rs540122589 0.00003
NM_000352.6(ABCC8):c.413-15A>G rs758744263 0.00003
NM_000352.6(ABCC8):c.4410C>T (p.Leu1470=) rs369810811 0.00003
NM_000352.6(ABCC8):c.787T>G (p.Tyr263Asp) rs778892038 0.00003
NM_000353.3(TAT):c.*252C>G rs886052269 0.00003
NM_000360.4(TH):c.1400A>G (p.Asp467Gly) rs771351747 0.00003
NM_000360.4(TH):c.171C>T (p.Ala57=) rs771152796 0.00003
NM_000360.4(TH):c.66C>T (p.Asp22=) rs377073512 0.00003
NM_000365.6(TPI1):c.*260G>A rs782764628 0.00003
NM_000365.6(TPI1):c.599C>T (p.Ala200Val) rs139532537 0.00003
NM_000372.5(TYR):c.1064C>T (p.Ala355Val) rs151206295 0.00003
NM_000372.5(TYR):c.1307G>C (p.Gly436Ala) rs199717334 0.00003
NM_000387.6(SLC25A20):c.-66T>C rs886058659 0.00003
NM_000387.6(SLC25A20):c.-9G>C rs770135555 0.00003
NM_000429.3(MAT1A):c.*1192C>G rs1267727435 0.00003
NM_000429.3(MAT1A):c.*668G>A rs867012184 0.00003
NM_000429.3(MAT1A):c.-23C>T rs767638556 0.00003
NM_000458.4(HNF1B):c.*88A>G rs762266343 0.00003
NM_000458.4(HNF1B):c.1207A>T (p.Ile403Phe) rs747110790 0.00003
NM_000458.4(HNF1B):c.9C>T (p.Ser3=) rs773256244 0.00003
NM_000525.4(KCNJ11):c.*849C>G rs1272490539 0.00003
NM_000525.4(KCNJ11):c.1034C>T (p.Thr345Met) rs114215135 0.00003
NM_000531.6(OTC):c.*276A>G rs1016109235 0.00003
NM_000545.8(HNF1A):c.-6C>T rs779387337 0.00003
NM_000545.8(HNF1A):c.139G>C (p.Gly47Arg) rs373180062 0.00003
NM_000545.8(HNF1A):c.30G>A (p.Thr10=) rs746020457 0.00003
NM_000545.8(HNF1A):c.499G>A (p.Val167Ile) rs371759652 0.00003
NM_000550.3(TYRP1):c.-70C>T rs766836831 0.00003
NM_000550.3(TYRP1):c.1082-5T>A rs201296701 0.00003
NM_000550.3(TYRP1):c.1172C>T (p.Thr391Ile) rs761590226 0.00003
NM_000550.3(TYRP1):c.786G>A (p.Thr262=) rs200160846 0.00003
NM_000687.4(AHCY):c.*621T>C rs886056634 0.00003
NM_000687.4(AHCY):c.257A>G (p.Asp86Gly) rs773162208 0.00003
NM_000687.4(AHCY):c.29-4G>A rs774846394 0.00003
NM_000687.4(AHCY):c.445+11C>T rs375253690 0.00003
NM_000687.4(AHCY):c.559-13C>G rs763399683 0.00003
NM_000709.4(BCKDHA):c.108+12G>A rs780834493 0.00003
NM_000709.4(BCKDHA):c.288+9C>T rs398123497 0.00003
NM_000709.4(BCKDHA):c.330A>T (p.Thr110=) rs201366184 0.00003
NM_000709.4(BCKDHA):c.976A>G (p.Ile326Val) rs781688443 0.00003
NM_000784.4(CYP27A1):c.241C>A (p.Leu81Met) rs370498798 0.00003
NM_000784.4(CYP27A1):c.808C>G (p.Arg270Gly) rs72551318 0.00003
NM_000784.4(CYP27A1):c.859G>A (p.Asp287Asn) rs775027289 0.00003
NM_000784.4(CYP27A1):c.871G>A (p.Glu291Lys) rs190012697 0.00003
NM_000925.4(PDHB):c.*360A>G rs886058776 0.00003
NM_000925.4(PDHB):c.641C>T (p.Pro214Leu) rs752056463 0.00003
NM_001002755.4(NFU1):c.702G>A (p.Glu234=) rs561482249 0.00003
NM_001032386.2(SUOX):c.1137A>G (p.Lys379=) rs759992645 0.00003
NM_001033044.4(GLUL):c.*1510G>T rs886045608 0.00003
NM_001033044.4(GLUL):c.*1646C>T rs1334917697 0.00003
NM_001033044.4(GLUL):c.*850T>C rs886045610 0.00003
NM_001033044.4(GLUL):c.355C>T (p.Arg119Trp) rs771501078 0.00003
NM_001080.3(ALDH5A1):c.*1349A>G rs542892289 0.00003
NM_001080.3(ALDH5A1):c.*1674C>T rs184664416 0.00003
NM_001080.3(ALDH5A1):c.*2414G>A rs886061278 0.00003
NM_001080.3(ALDH5A1):c.1374C>T (p.Ile458=) rs775722631 0.00003
NM_001080.3(ALDH5A1):c.651C>T (p.Ala217=) rs4646837 0.00003
NM_001080.3(ALDH5A1):c.663C>T (p.Ala221=) rs760461822 0.00003
NM_001243177.4(ALDOA):c.219C>T (p.Ile73=) rs773402743 0.00003
NM_001243177.4(ALDOA):c.226C>T (p.Arg76Cys) rs145582724 0.00003
NM_001352514.2(HLCS):c.*1581T>C rs886057069 0.00003
NM_001352514.2(HLCS):c.*1761_*1762del rs886057067 0.00003
NM_001352514.2(HLCS):c.*334A>G rs886057073 0.00003
NM_001352514.2(HLCS):c.*779A>T rs886057072 0.00003
NM_001352514.2(HLCS):c.*985C>A rs886057071 0.00003
NM_001352514.2(HLCS):c.1821G>A (p.Leu607=) rs147495853 0.00003
NM_001352514.2(HLCS):c.206A>G (p.Asp69Gly) rs886057080 0.00003
NM_001352514.2(HLCS):c.2121+1G>A rs1175936807 0.00003
NM_001352514.2(HLCS):c.841G>A (p.Asp281Asn) rs148426470 0.00003
NM_001358530.2(MOCS1):c.*1502A>G rs966816102 0.00003
NM_001358530.2(MOCS1):c.*1942C>T rs764671362 0.00003
NM_001358530.2(MOCS1):c.*2074A>G rs527715928 0.00003
NM_001358530.2(MOCS1):c.*423C>A rs886061387 0.00003
NM_001358530.2(MOCS1):c.*638C>G rs886061386 0.00003
NM_001358530.2(MOCS1):c.1211C>T (p.Pro404Leu) rs570962724 0.00003
NM_001358530.2(MOCS1):c.1362C>T (p.Asp454=) rs771259156 0.00003
NM_001358530.2(MOCS1):c.707C>T (p.Thr236Ile) rs201036100 0.00003
NM_001366110.1(PAX4):c.14-101C>T rs886061970 0.00003
NM_001366110.1(PAX4):c.14-176C>A rs754931916 0.00003
NM_001482.3(GATM):c.1159+14A>G rs368974196 0.00003
NM_001701.4(BAAT):c.*1085C>G rs377765138 0.00003
NM_001715.2(BLK):c.-531C>T rs538706235 0.00003
NM_001715.3(BLK):c.1089G>A (p.Ala363=) rs55836779 0.00003
NM_001875.5(CPS1):c.*235A>T rs6728169 0.00003
NM_001875.5(CPS1):c.*808G>T rs943762320 0.00003
NM_001875.5(CPS1):c.3724G>A (p.Val1242Ile) rs766236739 0.00003
NM_001902.6(CTH):c.*513T>A rs900700647 0.00003
NM_001902.6(CTH):c.*693G>T rs953689275 0.00003
NM_001902.6(CTH):c.1052+1G>A rs570239863 0.00003
NM_001902.6(CTH):c.541G>A (p.Asp181Asn) rs748301555 0.00003
NM_001918.5(DBT):c.*2271A>C rs768839953 0.00003
NM_001918.5(DBT):c.*488G>A rs778739081 0.00003
NM_002108.4(HAL):c.398G>A (p.Arg133His) rs781172842 0.00003
NM_002150.3(HPD):c.1108G>A (p.Ala370Thr) rs142321451 0.00003
NM_002300.8(LDHB):c.719A>G (p.Tyr240Cys) rs369382991 0.00003
NM_002500.5(NEUROD1):c.964G>A (p.Ala322Thr) rs754458532 0.00003
NM_002860.4(ALDH18A1):c.1467+15C>T rs374652686 0.00003
NM_002860.4(ALDH18A1):c.933+14G>A rs546156675 0.00003
NM_003060.4(SLC22A5):c.*5G>A rs554373076 0.00003
NM_003060.4(SLC22A5):c.131C>T (p.Ala44Val) rs199689597 0.00003
NM_003060.4(SLC22A5):c.1587-11T>G rs772775759 0.00003
NM_003060.4(SLC22A5):c.377C>A (p.Ser126Tyr) rs568906114 0.00003
NM_003597.5(KLF11):c.*1386A>G rs886054732 0.00003
NM_003597.5(KLF11):c.-159G>A rs1445533585 0.00003
NM_003597.5(KLF11):c.305C>G (p.Ser102Trp) rs576350323 0.00003
NM_003597.5(KLF11):c.431T>C (p.Val144Ala) rs753049849 0.00003
NM_003664.5(AP3B1):c.1075A>G (p.Thr359Ala) rs148160411 0.00003
NM_003664.5(AP3B1):c.519A>G (p.Ala173=) rs747459337 0.00003
NM_003748.3(ALDH4A1):c.-65G>C rs878956441 0.00003
NM_004453.4(ETFDH):c.142A>G (p.Ile48Val) rs201823591 0.00003
NM_004531.5(MOCS2):c.*171G>C rs191465075 0.00003
NM_004577.3(PSPH):c.-711G>A rs886062397 0.00003
NM_004577.4(PSPH):c.*22A>G rs374366346 0.00003
NM_004577.4(PSPH):c.*277G>A rs886062389 0.00003
NM_004577.4(PSPH):c.149G>A (p.Arg50Gln) rs554689284 0.00003
NM_005271.5(GLUD1):c.*1270C>T rs886047370 0.00003
NM_005271.5(GLUD1):c.*1464C>T rs886047368 0.00003
NM_005271.5(GLUD1):c.*1548C>T rs886047366 0.00003
NM_005518.4(HMGCS2):c.1513C>T (p.Arg505Trp) rs780044819 0.00003
NM_005518.4(HMGCS2):c.791G>A (p.Arg264Gln) rs372095379 0.00003
NM_005566.4(LDHA):c.137A>T (p.Asp46Val) rs201460924 0.00003
NM_005589.4(ALDH6A1):c.*2861C>T rs939793039 0.00003
NM_005589.4(ALDH6A1):c.799G>A (p.Glu267Lys) rs763810979 0.00003
NM_005589.4(ALDH6A1):c.908A>G (p.Asn303Ser) rs376852895 0.00003
NM_006721.4(ADK):c.259A>G (p.Ile87Val) rs201734294 0.00003
NM_012463.4(ATP6V0A2):c.*2090C>T rs772018611 0.00003
NM_012463.4(ATP6V0A2):c.*3269A>G rs567165258 0.00003
NM_012463.4(ATP6V0A2):c.*575G>A rs996318859 0.00003
NM_012463.4(ATP6V0A2):c.1038G>A (p.Ser346=) rs147411055 0.00003
NM_012463.4(ATP6V0A2):c.1515-12T>G rs201512900 0.00003
NM_012463.4(ATP6V0A2):c.440C>T (p.Pro147Leu) rs747354658 0.00003
NM_012463.4(ATP6V0A2):c.793G>A (p.Gly265Arg) rs774118423 0.00003
NM_012463.4(ATP6V0A2):c.993C>T (p.Pro331=) rs367873118 0.00003
NM_014049.5(ACAD9):c.1190C>T (p.Ala397Val) rs768894091 0.00003
NM_014049.5(ACAD9):c.1415G>A (p.Arg472Gln) rs762081272 0.00003
NM_014049.5(ACAD9):c.1525G>A (p.Gly509Ser) rs141036010 0.00003
NM_014049.5(ACAD9):c.1832A>G (p.Tyr611Cys) rs1057523761 0.00003
NM_014049.5(ACAD9):c.44G>C (p.Arg15Pro) rs886057955 0.00003
NM_014049.5(ACAD9):c.634-3C>T rs187282664 0.00003
NM_014251.3(SLC25A13):c.1063C>T (p.Arg355Ter) rs758827458 0.00003
NM_014251.3(SLC25A13):c.1505C>T (p.Pro502Leu) rs139149160 0.00003
NM_014251.3(SLC25A13):c.1658G>A (p.Arg553Gln) rs201283753 0.00003
NM_014251.3(SLC25A13):c.615+5G>A rs80338717 0.00003
NM_014252.4(SLC25A15):c.*217G>A rs886050241 0.00003
NM_014252.4(SLC25A15):c.*2373T>C rs886050249 0.00003
NM_014252.4(SLC25A15):c.*871T>C rs767132355 0.00003
NM_015702.3(MMADHC):c.*267T>C rs546054980 0.00003
NM_016180.5(SLC45A2):c.1042C>T (p.Arg348Cys) rs372465070 0.00003
NM_016180.5(SLC45A2):c.1208C>T (p.Thr403Met) rs141286272 0.00003
NM_018368.4(LMBRD1):c.417G>A (p.Thr139=) rs934259733 0.00003
NM_020166.5(MCCC1):c.1565T>C (p.Met522Thr) rs768011454 0.00003
NM_020166.5(MCCC1):c.559T>C (p.Ser187Pro) rs757362635 0.00003
NM_020686.6(ABAT):c.*1826C>T rs886052441 0.00003
NM_020686.6(ABAT):c.1123-15C>T rs376574278 0.00003
NM_020686.6(ABAT):c.168+13C>T rs759610129 0.00003
NM_020686.6(ABAT):c.561G>C (p.Arg187Ser) rs141279192 0.00003
NM_020686.6(ABAT):c.708C>T (p.Ile236=) rs778110660 0.00003
NM_022081.6(HPS4):c.*1594G>C rs886057296 0.00003
NM_022081.6(HPS4):c.*197G>T rs550753111 0.00003
NM_022081.6(HPS4):c.*369C>T rs886057316 0.00003
NM_022081.6(HPS4):c.38C>T (p.Ser13Leu) rs778872709 0.00003
NM_022081.6(HPS4):c.617C>T (p.Pro206Leu) rs746492833 0.00003
NM_024747.6(HPS6):c.1181T>C (p.Val394Ala) rs146521433 0.00003
NM_024747.6(HPS6):c.1755G>T (p.Glu585Asp) rs781537152 0.00003
NM_024747.6(HPS6):c.2112C>T (p.Leu704=) rs764640708 0.00003
NM_032383.5(HPS3):c.1768C>T (p.Arg590Cys) rs199882259 0.00003
NM_053013.4(ENO3):c.1047G>A (p.Ser349=) rs527864393 0.00003
NM_054012.3(ASS1):c.-101C>G rs886063531 0.00003
NM_054012.3(ASS1):c.-278G>T rs563156422 0.00003
NM_054012.4(ASS1):c.*110C>T rs893210689 0.00003
NM_054012.4(ASS1):c.175-4G>A rs370817871 0.00003
NM_054012.4(ASS1):c.786C>T (p.Gly262=) rs536799104 0.00003
NM_058179.4(PSAT1):c.*241C>A rs1057515673 0.00003
NM_175914.5(HNF4A):c.*1616G>A rs886056685 0.00003
NM_175914.5(HNF4A):c.*168G>T rs1045382698 0.00003
NM_175914.5(HNF4A):c.*2779A>C rs755438203 0.00003
NM_175914.5(HNF4A):c.*572C>A rs761017274 0.00003
NM_181507.2(HPS5):c.-64A>G rs886048084 0.00003
NM_181507.2(HPS5):c.1496C>T (p.Ser499Leu) rs756408229 0.00003
NM_181507.2(HPS5):c.1536G>A (p.Met512Ile) rs139349345 0.00003
NM_183050.4(BCKDHB):c.33_34del (p.Leu12fs) rs398124572 0.00003
NM_183235.3(RAB27A):c.*2334C>A rs886051304 0.00003
NM_183235.3(RAB27A):c.11G>T (p.Gly4Val) rs539575657 0.00003
NM_183235.3(RAB27A):c.344-10A>G rs199702031 0.00003
NM_000016.5(ACADM):c.-304A>G rs886046521 0.00002
NM_000016.6(ACADM):c.276A>G (p.Pro92=) rs1212443202 0.00002
NM_000016.6(ACADM):c.927C>T (p.Phe309=) rs771550655 0.00002
NM_000017.4(ACADS):c.497C>T (p.Ala166Val) rs1022406482 0.00002
NM_000018.4(ACADVL):c.963C>T (p.Asn321=) rs568118142 0.00002
NM_000045.4(ARG1):c.912C>T (p.Phe304=) rs373480378 0.00002
NM_000048.4(ASL):c.243G>C (p.Leu81=) rs774204716 0.00002
NM_000048.4(ASL):c.637C>T (p.Arg213Ter) rs761651320 0.00002
NM_000071.3(CBS):c.301C>G (p.Leu101Val) rs369644531 0.00002
NM_000071.3(CBS):c.361C>T (p.Arg121Cys) rs775992753 0.00002
NM_000081.4(LYST):c.2870T>C (p.Met957Thr) rs201554916 0.00002
NM_000108.5(DLD):c.*355A>G rs886061910 0.00002
NM_000108.5(DLD):c.1503G>A (p.Ala501=) rs766286119 0.00002
NM_000108.5(DLD):c.226C>T (p.Leu76Phe) rs967089304 0.00002
NM_000108.5(DLD):c.677T>C (p.Val226Ala) rs750449027 0.00002
NM_000137.4(FAH):c.*129T>C rs968507766 0.00002
NM_000137.4(FAH):c.391C>T (p.Arg131Trp) rs147946196 0.00002
NM_000137.4(FAH):c.567A>G (p.Val189=) rs750785945 0.00002
NM_000137.4(FAH):c.89C>T (p.Pro30Leu) rs776178600 0.00002
NM_000156.6(GAMT):c.189G>C (p.Arg63=) rs568392459 0.00002
NM_000156.6(GAMT):c.225G>A (p.Ala75=) rs202151546 0.00002
NM_000161.3(GCH1):c.*34C>T rs757193609 0.00002
NM_000161.3(GCH1):c.195G>A (p.Glu65=) rs139350456 0.00002
NM_000162.5(GCK):c.-452G>A rs187173652 0.00002
NM_000162.5(GCK):c.10G>A (p.Asp4Asn) rs202091228 0.00002
NM_000162.5(GCK):c.435C>G (p.Pro145=) rs773281783 0.00002
NM_000162.5(GCK):c.483+3G>A rs1311596702 0.00002
NM_000170.3(GLDC):c.*546C>T rs768890473 0.00002
NM_000170.3(GLDC):c.142G>T (p.Gly48Trp) rs1057515608 0.00002
NM_000178.4(GSS):c.957G>A (p.Met319Ile) rs202181009 0.00002
NM_000182.5(HADHA):c.1794T>C (p.His598=) rs149021400 0.00002
NM_000182.5(HADHA):c.1912A>G (p.Ile638Val) rs545660610 0.00002
NM_000182.5(HADHA):c.560G>C (p.Arg187Thr) rs146667859 0.00002
NM_000191.2(HMGCL):c.-41G>C rs886046315 0.00002
NM_000191.3(HMGCL):c.*366G>A rs1470010250 0.00002
NM_000191.3(HMGCL):c.734C>T (p.Thr245Ile) rs761468576 0.00002
NM_000191.3(HMGCL):c.828G>A (p.Leu276=) rs771024022 0.00002
NM_000195.5(HPS1):c.*577C>T rs1455446444 0.00002
NM_000195.5(HPS1):c.1896C>T (p.Ser632=) rs760508807 0.00002
NM_000195.5(HPS1):c.2052C>T (p.Ala684=) rs576260502 0.00002
NM_000274.4(OAT):c.1245G>A (p.Ala415=) rs751449034 0.00002
NM_000274.4(OAT):c.477C>T (p.Thr159=) rs575839041 0.00002
NM_000275.3(OCA2):c.1222G>A (p.Asp408Asn) rs769550106 0.00002
NM_000275.3(OCA2):c.1784+6G>A rs779188429 0.00002
NM_000275.3(OCA2):c.216C>G (p.Leu72=) rs766072141 0.00002
NM_000275.3(OCA2):c.648C>T (p.Ser216=) rs886051026 0.00002
NM_000277.3(PAH):c.1066-3C>T rs62507344 0.00002
NM_000289.6(PFKM):c.1946A>G (p.Lys649Arg) rs199528011 0.00002
NM_000289.6(PFKM):c.514A>G (p.Thr172Ala) rs139800248 0.00002
NM_000290.4(PGAM2):c.252T>C (p.Thr84=) rs755125202 0.00002
NM_000298.6(PKLR):c.721G>T (p.Glu241Ter) rs201953584 0.00002
NM_000298.6(PKLR):c.727G>A (p.Gly243Ser) rs745797890 0.00002
NM_000298.6(PKLR):c.909G>C (p.Pro303=) rs200840994 0.00002
NM_000352.6(ABCC8):c.2217G>T (p.Trp739Cys) rs1331539684 0.00002
NM_000352.6(ABCC8):c.2666A>C (p.Lys889Thr) rs761862121 0.00002
NM_000352.6(ABCC8):c.291-3C>T rs764107333 0.00002
NM_000352.6(ABCC8):c.3877T>G (p.Tyr1293Asp) rs368710356 0.00002
NM_000352.6(ABCC8):c.3982C>A (p.Leu1328Ile) rs774965446 0.00002
NM_000352.6(ABCC8):c.620C>T (p.Pro207Leu) rs750165947 0.00002
NM_000353.3(TAT):c.269A>G (p.Asp90Gly) rs886052275 0.00002
NM_000360.4(TH):c.1422C>T (p.Ala474=) rs375735482 0.00002
NM_000360.4(TH):c.360G>A (p.Arg120=) rs761868828 0.00002
NM_000360.4(TH):c.793C>G (p.Arg265Gly) rs1203763637 0.00002
NM_000365.6(TPI1):c.116-13A>G rs782238701 0.00002
NM_000365.6(TPI1):c.543+5C>G rs782153322 0.00002
NM_000387.6(SLC25A20):c.719-10T>C rs769684089 0.00002
NM_000387.6(SLC25A20):c.894C>A (p.Thr298=) rs766966542 0.00002
NM_000429.3(MAT1A):c.*736G>A rs530670748 0.00002
NM_000429.3(MAT1A):c.1059C>T (p.Phe353=) rs777896485 0.00002
NM_000429.3(MAT1A):c.1074C>T (p.Gly358=) rs373567910 0.00002
NM_000429.3(MAT1A):c.642G>A (p.Thr214=) rs539772339 0.00002
NM_000429.3(MAT1A):c.769-13T>C rs778665724 0.00002
NM_000456.2(SUOX):c.-322C>T rs886049678 0.00002
NM_000458.4(HNF1B):c.1373T>G (p.Val458Gly) rs375644184 0.00002
NM_000481.3(AMT):c.-226G>A rs1244431682 0.00002
NM_000481.4(AMT):c.503G>C (p.Arg168Thr) rs200058579 0.00002
NM_000525.4(KCNJ11):c.*1055T>A rs886048032 0.00002
NM_000525.4(KCNJ11):c.*40C>T rs746850899 0.00002
NM_000525.4(KCNJ11):c.-179C>T rs776949660 0.00002
NM_000525.4(KCNJ11):c.1040G>A (p.Arg347His) rs771797701 0.00002
NM_000525.4(KCNJ11):c.804C>T (p.Tyr268=) rs778225010 0.00002
NM_000525.4(KCNJ11):c.91C>T (p.Arg31Trp) rs757621300 0.00002
NM_000531.6(OTC):c.216+9C>T rs774764719 0.00002
NM_000531.6(OTC):c.76C>T (p.Arg26Trp) rs1057515879 0.00002
NM_000545.8(HNF1A):c.1533G>A (p.Gln511=) rs147198532 0.00002
NM_000545.8(HNF1A):c.1592G>C (p.Ser531Thr) rs137853246 0.00002
NM_000545.8(HNF1A):c.216C>T (p.Asp72=) rs148961412 0.00002
NM_000545.8(HNF1A):c.264G>A (p.Glu88=) rs201223431 0.00002
NM_000545.8(HNF1A):c.29C>T (p.Thr10Met) rs774637975 0.00002
NM_000550.3(TYRP1):c.148G>A (p.Gly50Arg) rs752263450 0.00002
NM_000687.4(AHCY):c.-40C>T rs759516966 0.00002
NM_000709.4(BCKDHA):c.261G>T (p.Gln87His) rs751862507 0.00002
NM_000784.4(CYP27A1):c.322C>T (p.Leu108=) rs192344487 0.00002
NM_000784.4(CYP27A1):c.368A>C (p.Lys123Thr) rs778424069 0.00002
NM_000784.4(CYP27A1):c.507G>A (p.Ala169=) rs776260288 0.00002
NM_000784.4(CYP27A1):c.525G>A (p.Thr175=) rs200506778 0.00002
NM_000784.4(CYP27A1):c.666C>T (p.Phe222=) rs751692931 0.00002
NM_000784.4(CYP27A1):c.747G>A (p.Gln249=) rs764766872 0.00002
NM_001002755.2(NFU1):c.-175G>T rs764708513 0.00002
NM_001032386.2(SUOX):c.*47A>C rs767182198 0.00002
NM_001032386.2(SUOX):c.192C>T (p.Leu64=) rs577360771 0.00002
NM_001033044.4(GLUL):c.*1442A>G rs748871597 0.00002
NM_001033044.4(GLUL):c.*305C>T rs886045614 0.00002
NM_001033044.4(GLUL):c.*717T>C rs886045611 0.00002
NM_001033044.4(GLUL):c.268C>T (p.Arg90Cys) rs199746338 0.00002
NM_001033044.4(GLUL):c.714T>C (p.Phe238=) rs768089308 0.00002
NM_001080.3(ALDH5A1):c.*2720C>A rs560949465 0.00002
NM_001080.3(ALDH5A1):c.1320C>T (p.Phe440=) rs771829991 0.00002
NM_001243177.4(ALDOA):c.639C>G (p.Pro213=) rs758499704 0.00002
NM_001352514.2(HLCS):c.*1071G>A rs987334114 0.00002
NM_001352514.2(HLCS):c.*14C>T rs778616712 0.00002
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn) rs119103228 0.00002
NM_001352514.2(HLCS):c.941A>G (p.Tyr314Cys) rs778638155 0.00002
NM_001358530.2(MOCS1):c.*1063T>A rs886061383 0.00002
NM_001358530.2(MOCS1):c.*1436C>T rs886061380 0.00002
NM_001358530.2(MOCS1):c.*1752C>G rs1291765153 0.00002
NM_001358530.2(MOCS1):c.*803C>T rs990062943 0.00002
NM_001358530.2(MOCS1):c.1028G>A (p.Arg343Gln) rs781187745 0.00002
NM_001370658.1(BTD):c.-87G>T rs755119589 0.00002
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr) rs104893692 0.00002
NM_001370658.1(BTD):c.1425C>A (p.Ile475=) rs780182371 0.00002
NM_001482.3(GATM):c.494G>A (p.Ser165Asn) rs780398292 0.00002
NM_001482.3(GATM):c.644A>G (p.Lys215Arg) rs759012962 0.00002
NM_001701.4(BAAT):c.-176C>T rs556581115 0.00002
NM_001715.3(BLK):c.41C>T (p.Pro14Leu) rs769734763 0.00002
NM_001715.3(BLK):c.571C>A (p.Pro191Thr) rs769895420 0.00002
NM_001715.3(BLK):c.773-9C>T rs772158649 0.00002
NM_001875.5(CPS1):c.2116A>G (p.Thr706Ala) rs755035266 0.00002
NM_001875.5(CPS1):c.302T>C (p.Ile101Thr) rs186877621 0.00002
NM_001875.5(CPS1):c.4019A>G (p.Glu1340Gly) rs748968097 0.00002
NM_001902.6(CTH):c.995T>C (p.Leu332Pro) rs767542599 0.00002
NM_001918.5(DBT):c.*3187C>G rs886044952 0.00002
NM_001918.5(DBT):c.*642T>C rs1055527758 0.00002
NM_001918.5(DBT):c.*8073C>T rs886044941 0.00002
NM_002108.4(HAL):c.*1300T>G rs1316771084 0.00002
NM_002108.4(HAL):c.-108C>T rs886049903 0.00002
NM_002108.4(HAL):c.77G>A (p.Trp26Ter) rs780094875 0.00002
NM_002150.2(HPD):c.*202T>A rs1352129485 0.00002
NM_002150.3(HPD):c.93+9C>T rs542121054 0.00002
NM_002300.8(LDHB):c.472C>T (p.Arg158Cys) rs532712842 0.00002
NM_002300.8(LDHB):c.782T>C (p.Ile261Thr) rs775184475 0.00002
NM_002500.5(NEUROD1):c.34G>C (p.Gly12Arg) rs556400603 0.00002
NM_002860.4(ALDH18A1):c.2098G>A (p.Val700Ile) rs375705932 0.00002
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp) rs267607054 0.00002
NM_003060.4(SLC22A5):c.1199G>A (p.Arg400His) rs371219688 0.00002
NM_003060.4(SLC22A5):c.522C>T (p.Phe174=) rs145350949 0.00002
NM_003124.5(SPR):c.*400C>T rs886056289 0.00002
NM_003124.5(SPR):c.380A>G (p.Asn127Ser) rs755878397 0.00002
NM_003477.3(PDHX):c.511G>A (p.Val171Ile) rs142256229 0.00002
NM_003597.5(KLF11):c.*1320G>A rs555032852 0.00002
NM_003597.5(KLF11):c.*2081C>T rs886054736 0.00002
NM_003597.5(KLF11):c.*954C>G rs886054728 0.00002
NM_003597.5(KLF11):c.994C>T (p.Pro332Ser) rs375265808 0.00002
NM_003748.3(ALDH4A1):c.-37C>A rs886045708 0.00002
NM_003748.4(ALDH4A1):c.1195C>T (p.Arg399Cys) rs138308070 0.00002
NM_003748.4(ALDH4A1):c.1632G>A (p.Pro544=) rs759926379 0.00002
NM_004453.4(ETFDH):c.1732C>T (p.Arg578Trp) rs763912783 0.00002
NM_004453.4(ETFDH):c.545G>A (p.Trp182Ter) rs767249944 0.00002
NM_004453.4(ETFDH):c.91A>G (p.Thr31Ala) rs182144074 0.00002
NM_004531.5(MOCS2):c.*2609G>C rs1245765953 0.00002
NM_005271.5(GLUD1):c.154C>A (p.His52Asn) rs750420022 0.00002
NM_005271.5(GLUD1):c.330G>A (p.Lys110=) rs199752396 0.00002
NM_005271.5(GLUD1):c.55C>T (p.Leu19=) rs892387294 0.00002
NM_005518.4(HMGCS2):c.*765G>A rs587722758 0.00002
NM_005518.4(HMGCS2):c.1236T>C (p.Tyr412=) rs773364048 0.00002
NM_005518.4(HMGCS2):c.830T>A (p.Ile277Asn) rs775637086 0.00002
NM_005518.4(HMGCS2):c.940C>T (p.Arg314Cys) rs781567781 0.00002
NM_005566.4(LDHA):c.*835A>G rs886048092 0.00002
NM_005566.4(LDHA):c.-24-10C>G rs200267888 0.00002
NM_005566.4(LDHA):c.249T>C (p.Tyr83=) rs199653952 0.00002
NM_005589.4(ALDH6A1):c.*1759C>T rs922749897 0.00002
NM_005589.4(ALDH6A1):c.*2328C>T rs750992221 0.00002
NM_005589.4(ALDH6A1):c.1400G>A (p.Gly467Glu) rs747566637 0.00002
NM_005629.4(SLC6A8):c.760G>A (p.Val254Ile) rs782287359 0.00002
NM_006623.3(PHGDH):c.-222G>A rs60544490 0.00002
NM_006623.4(PHGDH):c.1285G>C (p.Gly429Arg) rs145854744 0.00002
NM_006623.4(PHGDH):c.400G>A (p.Glu134Lys) rs139129607 0.00002
NM_006721.4(ADK):c.*337T>G rs886047238 0.00002
NM_012463.4(ATP6V0A2):c.*1680C>T rs886049067 0.00002
NM_012463.4(ATP6V0A2):c.2072T>C (p.Ile691Thr) rs144946016 0.00002
NM_012463.4(ATP6V0A2):c.2339G>A (p.Arg780His) rs774276857 0.00002
NM_014049.5(ACAD9):c.*204C>T rs758867335 0.00002
NM_014251.3(SLC25A13):c.*750T>C rs770563944 0.00002
NM_014251.3(SLC25A13):c.1419C>T (p.Val473=) rs201598915 0.00002
NM_014251.3(SLC25A13):c.16-4A>G rs369564645 0.00002
NM_014251.3(SLC25A13):c.571C>T (p.Arg191Cys) rs199744651 0.00002
NM_014252.4(SLC25A15):c.*2272G>A rs865875322 0.00002
NM_014252.4(SLC25A15):c.*640C>T rs763688411 0.00002
NM_014252.4(SLC25A15):c.*738C>T rs1424783770 0.00002
NM_014252.4(SLC25A15):c.*990T>C rs183698412 0.00002
NM_014252.4(SLC25A15):c.133C>T (p.Arg45Trp) rs540292884 0.00002
NM_015702.3(MMADHC):c.373G>C (p.Gly125Arg) rs760971849 0.00002
NM_015702.3(MMADHC):c.697-3C>T rs770272562 0.00002
NM_015702.3(MMADHC):c.800A>G (p.His267Arg) rs753424109 0.00002
NM_016180.5(SLC45A2):c.1233G>A (p.Gly411=) rs758782256 0.00002
NM_016180.5(SLC45A2):c.1251C>G (p.Leu417=) rs533032986 0.00002
NM_016180.5(SLC45A2):c.432C>T (p.Val144=) rs200477301 0.00002
NM_018368.4(LMBRD1):c.897C>T (p.Gly299=) rs757392138 0.00002
NM_020166.5(MCCC1):c.144C>T (p.Asn48=) rs77681010 0.00002
NM_020166.5(MCCC1):c.388G>A (p.Gly130Ser) rs202197951 0.00002
NM_020686.6(ABAT):c.*2794C>G rs886052447 0.00002
NM_020686.6(ABAT):c.*3059C>T rs886052449 0.00002
NM_020686.6(ABAT):c.*479C>T rs886052435 0.00002
NM_020686.6(ABAT):c.1054G>A (p.Val352Met) rs775462540 0.00002
NM_020686.6(ABAT):c.830T>C (p.Ile277Thr) rs540071491 0.00002
NM_022081.6(HPS4):c.*1256C>T rs886057299 0.00002
NM_022081.6(HPS4):c.*1691G>A rs1405392401 0.00002
NM_022081.6(HPS4):c.*228A>C rs182700538 0.00002
NM_022081.6(HPS4):c.1455G>A (p.Thr485=) rs756215705 0.00002
NM_022081.6(HPS4):c.1641C>T (p.Cys547=) rs199740072 0.00002
NM_022081.6(HPS4):c.2079C>T (p.Ser693=) rs138189133 0.00002
NM_022081.6(HPS4):c.437T>C (p.Ile146Thr) rs549798245 0.00002
NM_022081.6(HPS4):c.877C>G (p.Leu293Val) rs886057317 0.00002
NM_024747.6(HPS6):c.2045G>A (p.Arg682His) rs778873202 0.00002
NM_032383.5(HPS3):c.1125G>A (p.Gln375=) rs367816094 0.00002
NM_032383.5(HPS3):c.1153G>A (p.Val385Ile) rs749726836 0.00002
NM_032383.5(HPS3):c.1379_1381del (p.Arg460_Gln461delinsLys) rs775762509 0.00002
NM_032383.5(HPS3):c.1509+5T>C rs200117898 0.00002
NM_032383.5(HPS3):c.2527G>A (p.Val843Ile) rs150765088 0.00002
NM_032383.5(HPS3):c.2692C>T (p.Arg898Cys) rs543058717 0.00002
NM_053013.4(ENO3):c.1160G>A (p.Gly387Glu) rs761121808 0.00002
NM_053013.4(ENO3):c.554G>T (p.Gly185Val) rs200324278 0.00002
NM_053013.4(ENO3):c.555C>T (p.Gly185=) rs757606682 0.00002
NM_054012.4(ASS1):c.*129C>T rs886063533 0.00002
NM_054012.4(ASS1):c.929A>G (p.Lys310Arg) rs199751308 0.00002
NM_054012.4(ASS1):c.930A>G (p.Lys310=) rs200219927 0.00002
NM_058179.4(PSAT1):c.398-14G>A rs202026355 0.00002
NM_153006.3(NAGS):c.*43A>G rs762719000 0.00002
NM_175914.5(HNF4A):c.*867G>A rs940169046 0.00002
NM_175914.5(HNF4A):c.1020C>G (p.Gly340=) rs758836138 0.00002
NM_176806.4(MOCS2):c.7C>T (p.Pro3Ser) rs886060696 0.00002
NM_181507.2(HPS5):c.1076G>A (p.Arg359His) rs774619545 0.00002
NM_181507.2(HPS5):c.191G>T (p.Trp64Leu) rs747733616 0.00002
NM_183050.4(BCKDHB):c.*2018A>G rs1049658494 0.00002
NM_183050.4(BCKDHB):c.*2245C>G rs537076572 0.00002
NM_183050.4(BCKDHB):c.*922A>G rs371667903 0.00002
NM_183050.4(BCKDHB):c.732C>T (p.Tyr244=) rs537988425 0.00002
NM_183235.3(RAB27A):c.*2135C>A rs1025029271 0.00002
NM_212552.3(BOLA3):c.-8G>A rs886056327 0.00002
NM_000016.6(ACADM):c.*317C>T rs886046526 0.00001
NM_000016.6(ACADM):c.-50A>T rs753411141 0.00001
NM_000017.4(ACADS):c.*178C>T rs1309551400 0.00001
NM_000017.4(ACADS):c.1135G>C (p.Glu379Gln) rs953436518 0.00001
NM_000017.4(ACADS):c.1209C>T (p.Ala403=) rs377069922 0.00001
NM_000017.4(ACADS):c.164C>T (p.Pro55Leu) rs147442301 0.00001
NM_000017.4(ACADS):c.336C>T (p.Thr112=) rs768784437 0.00001
NM_000017.4(ACADS):c.473-9T>G rs751507296 0.00001
NM_000017.4(ACADS):c.578C>T (p.Ser193Leu) rs369167716 0.00001
NM_000017.4(ACADS):c.602C>T (p.Thr201Met) rs151059234 0.00001
NM_000017.4(ACADS):c.906G>A (p.Ala302=) rs763162492 0.00001
NM_000018.4(ACADVL):c.*32T>G rs886053376 0.00001
NM_000018.4(ACADVL):c.201G>A (p.Lys67=) rs753577095 0.00001
NM_000018.4(ACADVL):c.216C>T (p.Ser72=) rs761492981 0.00001
NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu) rs750043368 0.00001
NM_000018.4(ACADVL):c.278T>C (p.Val93Ala) rs886053373 0.00001
NM_000018.4(ACADVL):c.51C>T (p.Leu17=) rs376733533 0.00001
NM_000018.4(ACADVL):c.751A>G (p.Ser251Gly) rs749159573 0.00001
NM_000018.4(ACADVL):c.867G>T (p.Gly289=) rs745557512 0.00001
NM_000018.4(ACADVL):c.969G>A (p.Leu323=) rs749734276 0.00001
NM_000018.4(ACADVL):c.994G>A (p.Val332Ile) rs775761275 0.00001
NM_000045.4(ARG1):c.305+7T>C rs886061060 0.00001
NM_000045.4(ARG1):c.928G>T (p.Gly310Cys) rs760628925 0.00001
NM_000048.4(ASL):c.*93C>T rs1362861443 0.00001
NM_000048.4(ASL):c.1026G>C (p.Val342=) rs768461888 0.00001
NM_000048.4(ASL):c.1124A>G (p.Tyr375Cys) rs886062406 0.00001
NM_000048.4(ASL):c.1230G>C (p.Leu410=) rs1397223617 0.00001
NM_000048.4(ASL):c.1388A>G (p.Gln463Arg) rs200363489 0.00001
NM_000048.4(ASL):c.155C>T (p.Ala52Val) rs886062405 0.00001
NM_000048.4(ASL):c.474C>T (p.Tyr158=) rs1361999742 0.00001
NM_000048.4(ASL):c.720C>T (p.Ala240=) rs764072757 0.00001
NM_000071.3(CBS):c.1065G>A (p.Ala355=) rs748552493 0.00001
NM_000071.3(CBS):c.373C>T (p.Arg125Trp) rs886057100 0.00001
NM_000081.4(LYST):c.2724C>T (p.Cys908=) rs201440611 0.00001
NM_000081.4(LYST):c.2908A>C (p.Ile970Leu) rs539146732 0.00001
NM_000081.4(LYST):c.3310C>T (p.Arg1104Ter) rs80338652 0.00001
NM_000081.4(LYST):c.6216A>G (p.Val2072=) rs371248013 0.00001
NM_000081.4(LYST):c.8143G>A (p.Val2715Ile) rs202010795 0.00001
NM_000096.4(CP):c.*343A>G rs886058085 0.00001
NM_000108.5(DLD):c.*1401G>T rs1266926415 0.00001
NM_000108.5(DLD):c.*1724C>G rs886061913 0.00001
NM_000108.5(DLD):c.*225C>T rs553824101 0.00001
NM_000108.5(DLD):c.*394A>G rs1246423607 0.00001
NM_000108.5(DLD):c.116C>T (p.Pro39Leu) rs766396602 0.00001
NM_000108.5(DLD):c.117G>A (p.Pro39=) rs751621846 0.00001
NM_000108.5(DLD):c.1228A>C (p.Lys410Gln) rs886061907 0.00001
NM_000108.5(DLD):c.375G>A (p.Glu125=) rs559057715 0.00001
NM_000126.4(ETFA):c.268+3G>A rs1160396237 0.00001
NM_000126.4(ETFA):c.746G>A (p.Arg249His) rs886051488 0.00001
NM_000126.4(ETFA):c.78T>C (p.Ala26=) rs773298687 0.00001
NM_000137.3(FAH):c.*288G>A rs1488863066 0.00001
NM_000137.4(FAH):c.109G>A (p.Gly37Ser) rs761938144 0.00001
NM_000137.4(FAH):c.1180+10G>A rs758464032 0.00001
NM_000137.4(FAH):c.291A>C (p.Arg97Ser) rs754226189 0.00001
NM_000156.6(GAMT):c.*136C>A rs566649324 0.00001
NM_000156.6(GAMT):c.182G>A (p.Gly61Glu) rs77168423 0.00001
NM_000156.6(GAMT):c.20C>A (p.Thr7Asn) rs761687649 0.00001
NM_000156.6(GAMT):c.25A>G (p.Ile9Val) rs1555777381 0.00001
NM_000156.6(GAMT):c.372G>A (p.Leu124=) rs748762855 0.00001
NM_000156.6(GAMT):c.601G>A (p.Gly201Ser) rs540554423 0.00001
NM_000156.6(GAMT):c.64G>A (p.Ala22Thr) rs886054248 0.00001
NM_000161.3(GCH1):c.*1042A>G rs549379993 0.00001
NM_000161.3(GCH1):c.*1855A>G rs1357329918 0.00001
NM_000161.3(GCH1):c.*617A>G rs886050546 0.00001
NM_000161.3(GCH1):c.*641G>A rs1350159556 0.00001
NM_000161.3(GCH1):c.-5G>C rs886050550 0.00001
NM_000161.3(GCH1):c.334A>G (p.Thr112Ala) rs199990434 0.00001
NM_000161.3(GCH1):c.627-12C>T rs886050549 0.00001
NM_000162.5(GCK):c.*297T>G rs527259972 0.00001
NM_000162.5(GCK):c.*723A>G rs886062345 0.00001
NM_000162.5(GCK):c.-449G>A rs1375544246 0.00001
NM_000162.5(GCK):c.1253+12C>T rs768491249 0.00001
NM_000162.5(GCK):c.1386G>T (p.Met462Ile) rs193922285 0.00001
NM_000162.5(GCK):c.580-11C>T rs370016334 0.00001
NM_000170.3(GLDC):c.*496T>G rs999698910 0.00001
NM_000170.3(GLDC):c.*5C>G rs764814250 0.00001
NM_000170.3(GLDC):c.1402-14T>G rs376719104 0.00001
NM_000170.3(GLDC):c.1665+7A>T rs759573888 0.00001
NM_000170.3(GLDC):c.1830G>A (p.Gln610=) rs765268971 0.00001
NM_000170.3(GLDC):c.2145C>T (p.Asp715=) rs769158507 0.00001
NM_000170.3(GLDC):c.2166A>G (p.Gly722=) rs1323178815 0.00001
NM_000170.3(GLDC):c.2570G>A (p.Gly857Asp) rs1455180063 0.00001
NM_000170.3(GLDC):c.2742A>T (p.Ala914=) rs374022098 0.00001
NM_000170.3(GLDC):c.2925C>T (p.Phe975=) rs1052505781 0.00001
NM_000170.3(GLDC):c.63C>A (p.Arg21=) rs372141443 0.00001
NM_000170.3(GLDC):c.701A>G (p.Gln234Arg) rs776639131 0.00001
NM_000170.3(GLDC):c.96G>T (p.Pro32=) rs1430526811 0.00001
NM_000178.4(GSS):c.*185C>T rs2081370708 0.00001
NM_000178.4(GSS):c.1186A>G (p.Ile396Val) rs771438550 0.00001
NM_000178.4(GSS):c.754C>T (p.Arg252Ter) rs749741013 0.00001
NM_000182.5(HADHA):c.*405C>T rs886055859 0.00001
NM_000182.5(HADHA):c.*437T>A rs779402635 0.00001
NM_000182.5(HADHA):c.1829G>A (p.Arg610Gln) rs373966336 0.00001
NM_000182.5(HADHA):c.189A>G (p.Thr63=) rs748187062 0.00001
NM_000182.5(HADHA):c.2037A>G (p.Thr679=) rs1231960929 0.00001
NM_000182.5(HADHA):c.2192A>T (p.Asp731Val) rs775428463 0.00001
NM_000182.5(HADHA):c.27C>T (p.Ile9=) rs1453533016 0.00001
NM_000182.5(HADHA):c.869T>C (p.Val290Ala) rs759968341 0.00001
NM_000187.3(HGD):c.-255G>T rs886057820 0.00001
NM_000187.4(HGD):c.-13G>C rs775087041 0.00001
NM_000187.4(HGD):c.-18A>G rs755624842 0.00001
NM_000187.4(HGD):c.1266C>T (p.Asn422=) rs1417213536 0.00001
NM_000187.4(HGD):c.307C>A (p.Pro103Thr) rs559502955 0.00001
NM_000187.4(HGD):c.434+8G>T rs745572601 0.00001
NM_000187.4(HGD):c.923C>G (p.Pro308Arg) rs201529624 0.00001
NM_000191.3(HMGCL):c.*388G>A rs145874467 0.00001
NM_000191.3(HMGCL):c.501C>T (p.Tyr167=) rs200189529 0.00001
NM_000191.3(HMGCL):c.787C>A (p.Leu263Ile) rs1025294353 0.00001
NM_000195.5(HPS1):c.*1235G>A rs886046584 0.00001
NM_000195.5(HPS1):c.*451C>G rs1185107542 0.00001
NM_000195.5(HPS1):c.*635T>C rs886046588 0.00001
NM_000195.5(HPS1):c.*639G>T rs1025107350 0.00001
NM_000195.5(HPS1):c.*968G>A rs972778777 0.00001
NM_000195.5(HPS1):c.-219C>G rs574471533 0.00001
NM_000195.5(HPS1):c.1447C>T (p.Arg483Trp) rs755120094 0.00001
NM_000195.5(HPS1):c.1791C>T (p.Tyr597=) rs764612179 0.00001
NM_000195.5(HPS1):c.2037G>A (p.Leu679=) rs773611107 0.00001
NM_000195.5(HPS1):c.2058G>C (p.Gln686His) rs780183454 0.00001
NM_000195.5(HPS1):c.307G>A (p.Gly103Arg) rs771121322 0.00001
NM_000195.5(HPS1):c.565C>T (p.Arg189Trp) rs757374077 0.00001
NM_000195.5(HPS1):c.602G>A (p.Arg201Gln) rs746626404 0.00001
NM_000207.3(INS):c.25C>T (p.Pro9Ser) rs372122432 0.00001
NM_000274.4(OAT):c.*189A>G rs886046809 0.00001
NM_000274.4(OAT):c.*35C>T rs750628344 0.00001
NM_000274.4(OAT):c.*378A>G rs886046807 0.00001
NM_000274.4(OAT):c.*486A>G rs1377283827 0.00001
NM_000274.4(OAT):c.-60C>T rs886046812 0.00001
NM_000274.4(OAT):c.211T>C (p.Trp71Arg) rs780235906 0.00001
NM_000274.4(OAT):c.639C>T (p.Pro213=) rs773314783 0.00001
NM_000275.3(OCA2):c.1326C>T (p.Asn442=) rs886051025 0.00001
NM_000275.3(OCA2):c.1337T>C (p.Met446Thr) rs1185751753 0.00001
NM_000275.3(OCA2):c.162G>A (p.Gly54=) rs1391198560 0.00001
NM_000275.3(OCA2):c.1849A>T (p.Ile617Leu) rs763016773 0.00001
NM_000275.3(OCA2):c.1864C>T (p.Leu622=) rs543493041 0.00001
NM_000275.3(OCA2):c.2145C>G (p.Val715=) rs779836224 0.00001
NM_000275.3(OCA2):c.2201T>G (p.Leu734Arg) rs768934658 0.00001
NM_000275.3(OCA2):c.2322C>T (p.Phe774=) rs762388937 0.00001
NM_000275.3(OCA2):c.2361G>A (p.Ala787=) rs763462686 0.00001
NM_000275.3(OCA2):c.588A>C (p.Leu196=) rs374350218 0.00001
NM_000275.3(OCA2):c.594G>A (p.Pro198=) rs762764142 0.00001
NM_000277.3(PAH):c.*42A>G rs1238562736 0.00001
NM_000277.3(PAH):c.1066-9G>A rs750730715 0.00001
NM_000277.3(PAH):c.169-13T>G rs62507341 0.00001
NM_000277.3(PAH):c.786C>T (p.Val262=) rs776860902 0.00001
NM_000284.4(PDHA1):c.*1376C>T rs963546680 0.00001
NM_000284.4(PDHA1):c.*1779A>T rs758279534 0.00001
NM_000284.4(PDHA1):c.*1926G>C rs778062708 0.00001
NM_000289.6(PFKM):c.*532A>G rs927525907 0.00001
NM_000289.6(PFKM):c.1033C>T (p.Arg345Cys) rs762357629 0.00001
NM_000289.6(PFKM):c.1242C>G (p.Gly414=) rs886049454 0.00001
NM_000289.6(PFKM):c.864A>G (p.Gly288=) rs1313998695 0.00001
NM_000289.6(PFKM):c.965T>C (p.Met322Thr) rs1225653591 0.00001
NM_000298.6(PKLR):c.*1277G>A rs917244300 0.00001
NM_000298.6(PKLR):c.*275C>T rs886045350 0.00001
NM_000298.6(PKLR):c.*779C>A rs886045348 0.00001
NM_000298.6(PKLR):c.-31G>A rs778164541 0.00001
NM_000298.6(PKLR):c.1081A>G (p.Asn361Asp) rs765903674 0.00001
NM_000298.6(PKLR):c.1088C>A (p.Ala363Glu) rs763466930 0.00001
NM_000298.6(PKLR):c.1457G>A (p.Arg486Gln) rs768210809 0.00001
NM_000320.3(QDPR):c.147C>T (p.Ser49=) rs758659025 0.00001
NM_000320.3(QDPR):c.157A>G (p.Ile53Val) rs550966415 0.00001
NM_000320.3(QDPR):c.287A>G (p.Lys96Arg) rs1371078094 0.00001
NM_000320.3(QDPR):c.444C>T (p.Ile148=) rs754982401 0.00001
NM_000352.6(ABCC8):c.148+3G>A rs996321405 0.00001
NM_000352.6(ABCC8):c.1613T>C (p.Ile538Thr) rs886048054 0.00001
NM_000352.6(ABCC8):c.1924-9C>T rs1218098329 0.00001
NM_000352.6(ABCC8):c.2256-3C>T rs756328102 0.00001
NM_000352.6(ABCC8):c.2694+15G>A rs886048051 0.00001
NM_000352.6(ABCC8):c.2937C>T (p.Ser979=) rs780868010 0.00001
NM_000352.6(ABCC8):c.3053C>T (p.Ser1018Leu) rs775087568 0.00001
NM_000352.6(ABCC8):c.3224T>C (p.Ile1075Thr) rs745895362 0.00001
NM_000352.6(ABCC8):c.3243G>A (p.Thr1081=) rs771538281 0.00001
NM_000352.6(ABCC8):c.3552G>A (p.Ala1184=) rs144207158 0.00001
NM_000352.6(ABCC8):c.3558-8C>T rs544550330 0.00001
NM_000352.6(ABCC8):c.3951C>G (p.Leu1317=) rs765708759 0.00001
NM_000352.6(ABCC8):c.3989-10C>T rs373737642 0.00001
NM_000352.6(ABCC8):c.4077G>A (p.Pro1359=) rs547430068 0.00001
NM_000352.6(ABCC8):c.4545+9T>C rs775018351 0.00001
NM_000352.6(ABCC8):c.507C>T (p.Phe169=) rs755745806 0.00001
NM_000352.6(ABCC8):c.541A>T (p.Met181Leu) rs368894930 0.00001
NM_000352.6(ABCC8):c.933G>C (p.Leu311=) rs776498313 0.00001
NM_000353.3(TAT):c.*1055A>G rs886052265 0.00001
NM_000353.3(TAT):c.*1056G>C rs535439847 0.00001
NM_000353.3(TAT):c.*1066G>A rs886052264 0.00001
NM_000353.3(TAT):c.*251T>A rs886052270 0.00001
NM_000353.3(TAT):c.*742G>A rs527799557 0.00001
NM_000353.3(TAT):c.*983A>G rs886052266 0.00001
NM_000353.3(TAT):c.1042-12C>T rs748571289 0.00001
NM_000353.3(TAT):c.1146T>C (p.His382=) rs141534499 0.00001
NM_000353.3(TAT):c.1290G>A (p.Ala430=) rs767563000 0.00001
NM_000353.3(TAT):c.133C>T (p.Pro45Ser) rs575372249 0.00001
NM_000353.3(TAT):c.614T>C (p.Ile205Thr) rs201857669 0.00001
NM_000353.3(TAT):c.707-3C>T rs886052273 0.00001
NM_000353.3(TAT):c.710C>T (p.Ala237Val) rs895881765 0.00001
NM_000360.4(TH):c.244C>G (p.Leu82Val) rs1221965870 0.00001
NM_000360.4(TH):c.393C>T (p.Phe131=) rs1239693053 0.00001
NM_000360.4(TH):c.5C>T (p.Pro2Leu) rs139474171 0.00001
NM_000360.4(TH):c.648C>T (p.Gly216=) rs774810612 0.00001
NM_000360.4(TH):c.675C>T (p.Thr225=) rs1437906953 0.00001
NM_000360.4(TH):c.676G>A (p.Ala226Thr) rs549188961 0.00001
NM_000360.4(TH):c.841+12C>T rs368489295 0.00001
NM_000365.6(TPI1):c.*239C>T rs886049811 0.00001
NM_000365.6(TPI1):c.*69C>T rs782061169 0.00001
NM_000365.6(TPI1):c.1A>G (p.Met1Val) rs201432576 0.00001
NM_000365.6(TPI1):c.737A>G (p.Asn246Ser) rs781891192 0.00001
NM_000372.5(TYR):c.1044T>C (p.Ala348=) rs771720319 0.00001
NM_000372.5(TYR):c.1525G>A (p.Glu509Lys) rs777090253 0.00001
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr) rs28940879 0.00001
NM_000372.5(TYR):c.194T>C (p.Leu65Pro) rs886048745 0.00001
NM_000372.5(TYR):c.67G>A (p.Ala23Thr) rs1373014646 0.00001
NM_000387.6(SLC25A20):c.*115G>A rs886058658 0.00001
NM_000387.6(SLC25A20):c.*211T>C rs1321823892 0.00001
NM_000387.6(SLC25A20):c.*274C>T rs553907104 0.00001
NM_000387.6(SLC25A20):c.*311C>T rs575183195 0.00001
NM_000387.6(SLC25A20):c.-12G>A rs542582794 0.00001
NM_000387.6(SLC25A20):c.179G>A (p.Arg60Gln) rs761233598 0.00001
NM_000387.6(SLC25A20):c.761G>A (p.Arg254Lys) rs370168469 0.00001
NM_000411.8(HLCS):c.-393+7C>T rs886057081 0.00001
NM_000429.3(MAT1A):c.*1058T>C rs563243686 0.00001
NM_000429.3(MAT1A):c.*121C>G rs886047318 0.00001
NM_000429.3(MAT1A):c.*1741T>C rs1841416133 0.00001
NM_000429.3(MAT1A):c.*4C>G rs1353280208 0.00001
NM_000429.3(MAT1A):c.*553T>C rs558345547 0.00001
NM_000429.3(MAT1A):c.*831T>C rs74625274 0.00001
NM_000429.3(MAT1A):c.*968G>C rs1203818573 0.00001
NM_000429.3(MAT1A):c.484G>A (p.Ala162Thr) rs1452386763 0.00001
NM_000458.4(HNF1B):c.*789T>C rs886052887 0.00001
NM_000458.4(HNF1B):c.1025C>T (p.Ser342Phe) rs780035561 0.00001
NM_000458.4(HNF1B):c.268C>A (p.Pro90Thr) rs772315985 0.00001
NM_000458.4(HNF1B):c.96G>A (p.Glu32=) rs778229703 0.00001
NM_000481.4(AMT):c.*616C>T rs1477520548 0.00001
NM_000481.4(AMT):c.153G>A (p.Ala51=) rs768510463 0.00001
NM_000481.4(AMT):c.750C>T (p.Asn250=) rs141324034 0.00001
NM_000481.4(AMT):c.84C>T (p.Cys28=) rs763223038 0.00001
NM_000525.4(KCNJ11):c.*1220G>A rs1457465996 0.00001
NM_000525.4(KCNJ11):c.*1562A>G rs886048031 0.00001
NM_000525.4(KCNJ11):c.*311C>T rs886048038 0.00001
NM_000525.4(KCNJ11):c.*701A>T rs5207 0.00001
NM_000525.4(KCNJ11):c.-37C>T rs753392628 0.00001
NM_000525.4(KCNJ11):c.-515G>A rs886048044 0.00001
NM_000525.4(KCNJ11):c.1064T>C (p.Leu355Pro) rs797045635 0.00001
NM_000525.4(KCNJ11):c.1172G>A (p.Ter391=) rs1450567888 0.00001
NM_000525.4(KCNJ11):c.819C>T (p.Ser273=) rs202238153 0.00001
NM_000525.4(KCNJ11):c.902G>A (p.Arg301His) rs74339576 0.00001
NM_000531.6(OTC):c.896C>T (p.Thr299Ile) rs756772340 0.00001
NM_000545.8(HNF1A):c.*1090T>C rs1045819255 0.00001
NM_000545.8(HNF1A):c.-4A>G rs561269721 0.00001
NM_000545.8(HNF1A):c.1695C>T (p.Leu565=) rs762669462 0.00001
NM_000545.8(HNF1A):c.1800C>T (p.Ser600=) rs756416683 0.00001
NM_000550.3(TYRP1):c.*195C>T rs935337985 0.00001
NM_000550.3(TYRP1):c.*59A>C rs140364108 0.00001
NM_000550.3(TYRP1):c.*65T>A rs878881586 0.00001
NM_000550.3(TYRP1):c.-119G>T rs147861369 0.00001
NM_000550.3(TYRP1):c.-15C>G rs200678533 0.00001
NM_000550.3(TYRP1):c.1510A>G (p.Arg504Gly) rs1227640938 0.00001
NM_000550.3(TYRP1):c.426C>A (p.Asn142Lys) rs937119709 0.00001
NM_000550.3(TYRP1):c.527C>T (p.Thr176Met) rs886063413 0.00001
NM_000550.3(TYRP1):c.640T>C (p.Ser214Pro) rs1818070387 0.00001
NM_000550.3(TYRP1):c.904C>G (p.Leu302Val) rs770141693 0.00001
NM_000550.3(TYRP1):c.933T>C (p.Ile311=) rs1818182191 0.00001
NM_000687.4(AHCY):c.*112G>A rs2035978307 0.00001
NM_000687.4(AHCY):c.*417A>T rs2035968636 0.00001
NM_000687.4(AHCY):c.*427T>C rs574438360 0.00001
NM_000687.4(AHCY):c.219+8C>T rs768480898 0.00001
NM_000687.4(AHCY):c.61G>A (p.Ala21Thr) rs754753419 0.00001
NM_000687.4(AHCY):c.936C>T (p.Asn312=) rs528770765 0.00001
NM_000709.4(BCKDHA):c.*17C>T rs372125840 0.00001
NM_000709.4(BCKDHA):c.*324G>A rs564517344 0.00001
NM_000709.4(BCKDHA):c.*335G>A rs886054463 0.00001
NM_000709.4(BCKDHA):c.435C>T (p.Ala145=) rs369278165 0.00001
NM_000709.4(BCKDHA):c.882G>A (p.Met294Ile) rs1568508232 0.00001
NM_000709.4(BCKDHA):c.925G>A (p.Ala309Thr) rs760651615 0.00001
NM_000784.3(CYP27A1):c.-162C>T rs886055629 0.00001
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp) rs573951598 0.00001
NM_000784.4(CYP27A1):c.1369A>G (p.Thr457Ala) rs373870129 0.00001
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr) rs759003992 0.00001
NM_000925.4(PDHB):c.*199T>G rs886058777 0.00001
NM_000925.4(PDHB):c.*365T>A rs1023863848 0.00001
NM_000925.4(PDHB):c.*77C>T rs766780930 0.00001
NM_000925.4(PDHB):c.-12G>A rs758352130 0.00001
NM_000925.4(PDHB):c.1069T>C (p.Leu357=) rs768436316 0.00001
NM_000925.4(PDHB):c.11T>C (p.Val4Ala) rs751921912 0.00001
NM_000925.4(PDHB):c.212G>A (p.Arg71Gln) rs772939767 0.00001
NM_000925.4(PDHB):c.45C>G (p.Val15=) rs747916943 0.00001
NM_001002755.2(NFU1):c.-197T>G rs886056269 0.00001
NM_001002755.4(NFU1):c.-1G>A rs886056267 0.00001
NM_001002755.4(NFU1):c.12G>A (p.Thr4=) rs767315359 0.00001
NM_001032386.2(SUOX):c.*26C>G rs770314090 0.00001
NM_001032386.2(SUOX):c.279C>T (p.His93=) rs763253683 0.00001
NM_001032386.2(SUOX):c.507C>T (p.Thr169=) rs765012855 0.00001
NM_001032386.2(SUOX):c.889C>T (p.Arg297Trp) rs767916239 0.00001
NM_001032386.2(SUOX):c.89G>C (p.Cys30Ser) rs1419540521 0.00001
NM_001033044.4(GLUL):c.*101dup rs202163570 0.00001
NM_001033044.4(GLUL):c.*1058G>A rs146631739 0.00001
NM_001033044.4(GLUL):c.*1596G>A rs779753907 0.00001
NM_001033044.4(GLUL):c.*1790C>T rs886045606 0.00001
NM_001033044.4(GLUL):c.*1953C>T rs1271037645 0.00001
NM_001033044.4(GLUL):c.*210T>C rs1571403634 0.00001
NM_001033044.4(GLUL):c.*2304T>A rs1324820761 0.00001
NM_001033044.4(GLUL):c.*2555G>C rs890819500 0.00001
NM_001033044.4(GLUL):c.*2636C>T rs531293807 0.00001
NM_001033044.4(GLUL):c.*2691C>G rs1297863407 0.00001
NM_001033044.4(GLUL):c.-14+916C>T rs886045618 0.00001
NM_001033044.4(GLUL):c.-53T>C rs1415343537 0.00001
NM_001033044.4(GLUL):c.1093G>A (p.Gly365Ser) rs754863423 0.00001
NM_001033044.4(GLUL):c.238G>A (p.Val80Met) rs151138433 0.00001
NM_001033044.4(GLUL):c.863A>G (p.Tyr288Cys) rs886045617 0.00001
NM_001080.3(ALDH5A1):c.*1267dup rs886061275 0.00001
NM_001080.3(ALDH5A1):c.*1422C>A rs567445773 0.00001
NM_001080.3(ALDH5A1):c.*1426T>C rs574203430 0.00001
NM_001080.3(ALDH5A1):c.*3224C>G rs886061281 0.00001
NM_001080.3(ALDH5A1):c.*550C>T rs886061269 0.00001
NM_001080.3(ALDH5A1):c.1082C>T (p.Ala361Val) rs763860786 0.00001
NM_001080.3(ALDH5A1):c.1084G>A (p.Glu362Lys) rs1222413080 0.00001
NM_001080.3(ALDH5A1):c.1108G>A (p.Val370Ile) rs754091433 0.00001
NM_001080.3(ALDH5A1):c.112G>A (p.Ala38Thr) rs368068626 0.00001
NM_001080.3(ALDH5A1):c.1439G>A (p.Arg480Lys) rs1055012664 0.00001
NM_001080.3(ALDH5A1):c.515G>A (p.Arg172His) rs773814880 0.00001
NM_001080.3(ALDH5A1):c.925G>A (p.Gly309Ser) rs768719885 0.00001
NM_001243177.4(ALDOA):c.1120A>T (p.Asn374Tyr) rs886051894 0.00001
NM_001243177.4(ALDOA):c.1134G>A (p.Ala378=) rs530089317 0.00001
NM_001243177.4(ALDOA):c.910G>A (p.Ala304Thr) rs886051893 0.00001
NM_001352514.2(HLCS):c.*1766G>A rs537534748 0.00001
NM_001352514.2(HLCS):c.*2434G>T rs886057062 0.00001
NM_001352514.2(HLCS):c.*2700C>T rs140135359 0.00001
NM_001352514.2(HLCS):c.*2847G>A rs1269300334 0.00001
NM_001352514.2(HLCS):c.*3043A>G rs539444862 0.00001
NM_001352514.2(HLCS):c.*3209C>T rs886057059 0.00001
NM_001352514.2(HLCS):c.*448G>C rs772947158 0.00001
NM_001352514.2(HLCS):c.1192A>G (p.Thr398Ala) rs1259711297 0.00001
NM_001352514.2(HLCS):c.1943G>A (p.Arg648Gln) rs886057076 0.00001
NM_001352514.2(HLCS):c.2443G>A (p.Val815Ile) rs144116568 0.00001
NM_001352514.2(HLCS):c.2568G>A (p.Pro856=) rs745670538 0.00001
NM_001352514.2(HLCS):c.445G>A (p.Glu149Lys) rs148981273 0.00001
NM_001352514.2(HLCS):c.500A>G (p.His167Arg) rs577182758 0.00001
NM_001352514.2(HLCS):c.609C>T (p.Asp203=) rs370118884 0.00001
NM_001352514.2(HLCS):c.723C>A (p.Gly241=) rs886057077 0.00001
NM_001352514.2(HLCS):c.840C>T (p.Tyr280=) rs779907293 0.00001
NM_001358530.2(MOCS1):c.*1835T>G rs1466775644 0.00001
NM_001358530.2(MOCS1):c.*2A>G rs767003803 0.00001
NM_001358530.2(MOCS1):c.1150G>A (p.Glu384Lys) rs751603831 0.00001
NM_001358530.2(MOCS1):c.1282A>G (p.Arg428Gly) rs886061389 0.00001
NM_001358530.2(MOCS1):c.1367A>T (p.Asp456Val) rs143730711 0.00001
NM_001358530.2(MOCS1):c.1788T>G (p.Ser596=) rs200764011 0.00001
NM_001358530.2(MOCS1):c.421C>G (p.Gln141Glu) rs368942024 0.00001
NM_001358530.2(MOCS1):c.426C>T (p.Leu142=) rs375882259 0.00001
NM_001366110.1(PAX4):c.515G>A (p.Arg172Gln) rs587780414 0.00001
NM_001370658.1(BTD):c.*57T>A rs886058118 0.00001
NM_001370658.1(BTD):c.1043A>C (p.Asp348Ala) rs886058115 0.00001
NM_001370658.1(BTD):c.1112C>T (p.Pro371Leu) rs375239909 0.00001
NM_001370658.1(BTD):c.136C>A (p.Pro46Thr) rs778785164 0.00001
NM_001370658.1(BTD):c.140C>G (p.Ser47Cys) rs747489101 0.00001
NM_001482.3(GATM):c.*713T>A rs1889360907 0.00001
NM_001701.4(BAAT):c.*1136A>G rs886063282 0.00001
NM_001701.4(BAAT):c.*1164C>T rs570341484 0.00001
NM_001701.4(BAAT):c.*1307T>A rs111954077 0.00001
NM_001701.4(BAAT):c.*1557C>A rs1458339149 0.00001
NM_001701.4(BAAT):c.*1712G>C rs1390436469 0.00001
NM_001701.4(BAAT):c.*1828C>T rs1247789896 0.00001
NM_001701.4(BAAT):c.*660G>T rs1475921155 0.00001
NM_001701.4(BAAT):c.*936T>C rs894175515 0.00001
NM_001701.4(BAAT):c.-183T>A rs886063285 0.00001
NM_001701.4(BAAT):c.-208C>T rs886063286 0.00001
NM_001701.4(BAAT):c.1039C>T (p.His347Tyr) rs1487919718 0.00001
NM_001701.4(BAAT):c.1186G>T (p.Glu396Ter) rs371796700 0.00001
NM_001701.4(BAAT):c.147C>T (p.His49=) rs137898002 0.00001
NM_001701.4(BAAT):c.17C>T (p.Ala6Val) rs771170573 0.00001
NM_001701.4(BAAT):c.473G>T (p.Gly158Val) rs746409843 0.00001
NM_001701.4(BAAT):c.558C>T (p.Phe186=) rs760452448 0.00001
NM_001715.2(BLK):c.-267C>T rs886062591 0.00001
NM_001715.2(BLK):c.-375G>A rs886062590 0.00001
NM_001715.2(BLK):c.-484G>A rs761744676 0.00001
NM_001715.3(BLK):c.*366G>A rs977140703 0.00001
NM_001715.3(BLK):c.*461G>A rs1204192053 0.00001
NM_001715.3(BLK):c.1046C>T (p.Ala349Val) rs759976637 0.00001
NM_001715.3(BLK):c.1142T>C (p.Leu381Ser) rs142803179 0.00001
NM_001715.3(BLK):c.1252G>A (p.Val418Met) rs373565757 0.00001
NM_001715.3(BLK):c.1308C>T (p.Tyr436=) rs886062596 0.00001
NM_001715.3(BLK):c.164A>G (p.His55Arg) rs202053568 0.00001
NM_001715.3(BLK):c.677A>C (p.Gln226Pro) rs551088779 0.00001
NM_001715.3(BLK):c.892C>T (p.Arg298Ter) rs745877998 0.00001
NM_001875.5(CPS1):c.*1117A>G rs886055564 0.00001
NM_001875.5(CPS1):c.*424A>C rs1414802360 0.00001
NM_001875.5(CPS1):c.*739T>G rs886055560 0.00001
NM_001875.5(CPS1):c.*913G>T rs541817831 0.00001
NM_001875.5(CPS1):c.-76A>G rs372753413 0.00001
NM_001875.5(CPS1):c.1063A>G (p.Asn355Asp) rs1472190012 0.00001
NM_001875.5(CPS1):c.112C>T (p.Leu38Phe) rs749164722 0.00001
NM_001875.5(CPS1):c.1400C>T (p.Ala467Val) rs746395584 0.00001
NM_001875.5(CPS1):c.2454A>G (p.Pro818=) rs765712117 0.00001
NM_001875.5(CPS1):c.2809_2810del (p.Ile937fs) rs1318756445 0.00001
NM_001875.5(CPS1):c.3127A>G (p.Ile1043Val) rs200237771 0.00001
NM_001875.5(CPS1):c.3174C>T (p.Gly1058=) rs369030433 0.00001
NM_001875.5(CPS1):c.3286T>C (p.Leu1096=) rs749825961 0.00001
NM_001875.5(CPS1):c.3521G>A (p.Arg1174Gln) rs553145464 0.00001
NM_001875.5(CPS1):c.3558+7G>A rs764456030 0.00001
NM_001875.5(CPS1):c.3683G>A (p.Arg1228Gln) rs778117194 0.00001
NM_001875.5(CPS1):c.4274+2T>C rs1374322297 0.00001
NM_001875.5(CPS1):c.937A>G (p.Met313Val) rs587780323 0.00001
NM_001902.6(CTH):c.*217G>T rs567991643 0.00001
NM_001902.6(CTH):c.1033G>A (p.Glu345Lys) rs771762248 0.00001
NM_001902.6(CTH):c.465G>A (p.Trp155Ter) rs1032541755 0.00001
NM_001918.3(DBT):c.-40T>A rs1314975626 0.00001
NM_001918.5(DBT):c.*1572A>G rs1424615850 0.00001
NM_001918.5(DBT):c.*2119G>A rs928405900 0.00001
NM_001918.5(DBT):c.*2822T>G rs747199821 0.00001
NM_001918.5(DBT):c.*3135G>A rs886044953 0.00001
NM_001918.5(DBT):c.*4425C>A rs1030557885 0.00001
NM_001918.5(DBT):c.*5591T>C rs749879959 0.00001
NM_001918.5(DBT):c.*5638C>T rs886044944 0.00001
NM_001918.5(DBT):c.*6270A>G rs1435365769 0.00001
NM_001918.5(DBT):c.*635C>T rs886044962 0.00001
NM_001918.5(DBT):c.*7187G>A rs886044942 0.00001
NM_001918.5(DBT):c.*7369G>A rs893354618 0.00001
NM_001918.5(DBT):c.*8385A>C rs886044940 0.00001
NM_001918.5(DBT):c.*8830T>C rs1660613432 0.00001
NM_001918.5(DBT):c.1036A>G (p.Ile346Val) rs1302449788 0.00001
NM_001918.5(DBT):c.198G>A (p.Gln66=) rs201714436 0.00001
NM_002108.4(HAL):c.*1548G>A rs886049892 0.00001
NM_002108.4(HAL):c.*509A>T rs886049899 0.00001
NM_002108.4(HAL):c.-120C>T rs537728013 0.00001
NM_002108.4(HAL):c.-139C>A rs1565996182 0.00001
NM_002108.4(HAL):c.-7C>T rs757218014 0.00001
NM_002108.4(HAL):c.1090G>A (p.Val364Ile) rs1949884460 0.00001
NM_002108.4(HAL):c.1416G>A (p.Glu472=) rs372729432 0.00001
NM_002108.4(HAL):c.1764-5T>C rs752249746 0.00001
NM_002108.4(HAL):c.1933C>T (p.His645Tyr) rs144698271 0.00001
NM_002108.4(HAL):c.368C>T (p.Thr123Met) rs139831415 0.00001
NM_002108.4(HAL):c.438G>A (p.Val146=) rs1230867509 0.00001
NM_002108.4(HAL):c.9A>G (p.Arg3=) rs766635201 0.00001
NM_002150.3(HPD):c.765T>C (p.Tyr255=) rs767720774 0.00001
NM_002300.8(LDHB):c.129+11A>G rs886049166 0.00001
NM_002300.8(LDHB):c.421+7T>C rs375249355 0.00001
NM_002300.8(LDHB):c.422-10A>G rs886049165 0.00001
NM_002300.8(LDHB):c.727A>G (p.Ile243Val) rs750220072 0.00001
NM_002300.8(LDHB):c.826A>G (p.Thr276Ala) rs200158121 0.00001
NM_002500.4(NEUROD1):c.*1583T>C rs1035423254 0.00001
NM_002500.4(NEUROD1):c.-102G>A rs886055328 0.00001
NM_002500.5(NEUROD1):c.*370_*371insT rs886055326 0.00001
NM_002500.5(NEUROD1):c.*6C>A rs576676213 0.00001
NM_002500.5(NEUROD1):c.1055C>A (p.Ala352Asp) rs774325551 0.00001
NM_002500.5(NEUROD1):c.37G>A (p.Glu13Lys) rs763871039 0.00001
NM_002500.5(NEUROD1):c.418A>G (p.Ile140Val) rs369575066 0.00001
NM_002500.5(NEUROD1):c.473G>A (p.Arg158His) rs1422349580 0.00001
NM_002500.5(NEUROD1):c.841G>T (p.Gly281Cys) rs1284904822 0.00001
NM_002860.4(ALDH18A1):c.-44G>A rs1443127759 0.00001
NM_002860.4(ALDH18A1):c.1083T>C (p.Pro361=) rs886047512 0.00001
NM_002860.4(ALDH18A1):c.1315G>A (p.Gly439Ser) rs141292408 0.00001
NM_002860.4(ALDH18A1):c.2194C>T (p.Arg732Cys) rs760203992 0.00001
NM_002860.4(ALDH18A1):c.781C>A (p.Leu261Ile) rs200172733 0.00001
NM_002860.4(ALDH18A1):c.809-13G>A rs756690468 0.00001
NM_002860.4(ALDH18A1):c.809-3T>G rs755947818 0.00001
NM_002860.4(ALDH18A1):c.842C>T (p.Ala281Val) rs886047513 0.00001
NM_002860.4(ALDH18A1):c.934-7T>A rs772389382 0.00001
NM_003060.4(SLC22A5):c.*322C>A rs1220869401 0.00001
NM_003060.4(SLC22A5):c.*484G>A rs760545883 0.00001
NM_003060.4(SLC22A5):c.118G>A (p.Val40Met) rs148657753 0.00001
NM_003060.4(SLC22A5):c.363G>T (p.Gln121His) rs758991830 0.00001
NM_003060.4(SLC22A5):c.763G>A (p.Asp255Asn) rs774619135 0.00001
NM_003124.5(SPR):c.*607A>C rs1176601691 0.00001
NM_003124.5(SPR):c.23C>T (p.Ala8Val) rs775850923 0.00001
NM_003477.2(PDHX):c.-371G>A rs774565620 0.00001
NM_003477.3(PDHX):c.*742C>T rs577566893 0.00001
NM_003477.3(PDHX):c.-7C>T rs751680964 0.00001
NM_003477.3(PDHX):c.1164A>G (p.Glu388=) rs766725349 0.00001
NM_003477.3(PDHX):c.1450A>G (p.Thr484Ala) rs748511132 0.00001
NM_003597.5(KLF11):c.*131G>A rs545836068 0.00001
NM_003597.5(KLF11):c.*1463A>G rs1572448681 0.00001
NM_003597.5(KLF11):c.*1636C>T rs886054735 0.00001
NM_003597.5(KLF11):c.*1725G>C rs374263399 0.00001
NM_003597.5(KLF11):c.*192T>C rs552960564 0.00001
NM_003597.5(KLF11):c.*2103G>A rs1056465665 0.00001
NM_003597.5(KLF11):c.-31G>A rs886054721 0.00001
NM_003597.5(KLF11):c.1046C>T (p.Pro349Leu) rs886054723 0.00001
NM_003597.5(KLF11):c.1049C>T (p.Pro350Leu) rs775364750 0.00001
NM_003597.5(KLF11):c.1486G>A (p.Ala496Thr) rs868399686 0.00001
NM_003597.5(KLF11):c.18C>T (p.Phe6=) rs886054722 0.00001
NM_003597.5(KLF11):c.259A>G (p.Met87Val) rs757905542 0.00001
NM_003597.5(KLF11):c.25C>T (p.Pro9Ser) rs1377863567 0.00001
NM_003597.5(KLF11):c.501C>T (p.Pro167=) rs377399356 0.00001
NM_003597.5(KLF11):c.928T>C (p.Ser310Pro) rs759266535 0.00001
NM_003664.5(AP3B1):c.*141T>C rs753283084 0.00001
NM_003664.5(AP3B1):c.*447C>T rs886060768 0.00001
NM_003664.5(AP3B1):c.1364-11A>G rs759174401 0.00001
NM_003664.5(AP3B1):c.1421C>T (p.Ala474Val) rs191850940 0.00001
NM_003664.5(AP3B1):c.1890T>C (p.Ala630=) rs774196917 0.00001
NM_003664.5(AP3B1):c.537-7T>A rs773657171 0.00001
NM_003664.5(AP3B1):c.557A>C (p.Glu186Ala) rs778281326 0.00001
NM_003748.4(ALDH4A1):c.*1041G>A rs1371841928 0.00001
NM_003748.4(ALDH4A1):c.*1152G>T rs886045702 0.00001
NM_003748.4(ALDH4A1):c.*690G>A rs886045704 0.00001
NM_003748.4(ALDH4A1):c.1369G>A (p.Val457Ile) rs199828375 0.00001
NM_003748.4(ALDH4A1):c.157-14G>A rs904113931 0.00001
NM_003748.4(ALDH4A1):c.1580-5C>T rs777379037 0.00001
NM_003748.4(ALDH4A1):c.362T>C (p.Ile121Thr) rs758188756 0.00001
NM_003748.4(ALDH4A1):c.876A>G (p.Lys292=) rs775591571 0.00001
NM_003748.4(ALDH4A1):c.974G>A (p.Arg325His) rs1272594909 0.00001
NM_004453.4(ETFDH):c.-77C>G rs1296122115 0.00001
NM_004453.4(ETFDH):c.1004G>C (p.Ser335Thr) rs770140708 0.00001
NM_004453.4(ETFDH):c.12G>A (p.Pro4=) rs373776053 0.00001
NM_004453.4(ETFDH):c.1483C>T (p.Arg495Trp) rs774810601 0.00001
NM_004453.4(ETFDH):c.1530C>T (p.Pro510=) rs754795292 0.00001
NM_004453.4(ETFDH):c.1653G>A (p.Ser551=) rs1408118210 0.00001
NM_004453.4(ETFDH):c.414T>G (p.Leu138=) rs751256504 0.00001
NM_004453.4(ETFDH):c.731T>C (p.Phe244Ser) rs1448673327 0.00001
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser) rs537038850 0.00001
NM_004453.4(ETFDH):c.843T>A (p.Ile281=) rs765239908 0.00001
NM_004531.5(MOCS2):c.*1284C>G rs200541821 0.00001
NM_004531.5(MOCS2):c.*1424G>A rs940251540 0.00001
NM_004531.5(MOCS2):c.*2877G>T rs968123262 0.00001
NM_004531.5(MOCS2):c.*876T>C rs1041159861 0.00001
NM_004577.3(PSPH):c.-715T>C rs886062398 0.00001
NM_004577.4(PSPH):c.-461A>G rs886062394 0.00001
NM_004577.4(PSPH):c.235C>T (p.Leu79Phe) rs201222280 0.00001
NM_004577.4(PSPH):c.481G>A (p.Val161Met) rs765086289 0.00001
NM_004577.4(PSPH):c.60T>C (p.Asp20=) rs201376678 0.00001
NM_005271.5(GLUD1):c.*1181C>A rs542298445 0.00001
NM_005271.5(GLUD1):c.*1436G>A rs886047369 0.00001
NM_005271.5(GLUD1):c.*469C>A rs566474794 0.00001
NM_005271.5(GLUD1):c.*496G>A rs886047372 0.00001
NM_005271.5(GLUD1):c.104G>A (p.Gly35Glu) rs552066337 0.00001
NM_005271.5(GLUD1):c.1515C>T (p.Ile505=) rs774771496 0.00001
NM_005271.5(GLUD1):c.630A>G (p.Ala210=) rs368203417 0.00001
NM_005327.4(HADH):c.-86G>T rs528952923 0.00001
NM_005327.7(HADH):c.*279C>A rs1290272212 0.00001
NM_005327.7(HADH):c.*383G>C rs550706321 0.00001
NM_005327.7(HADH):c.-36C>T rs746854470 0.00001
NM_005327.7(HADH):c.159A>G (p.Val53=) rs148846625 0.00001
NM_005327.7(HADH):c.72G>A (p.Lys24=) rs781319494 0.00001
NM_005327.7(HADH):c.823G>A (p.Asp275Asn) rs150766162 0.00001
NM_005327.7(HADH):c.889G>A (p.Val297Ile) rs376876153 0.00001
NM_005518.4(HMGCS2):c.-36T>G rs768747562 0.00001
NM_005518.4(HMGCS2):c.111T>C (p.Ser37=) rs200675569 0.00001
NM_005518.4(HMGCS2):c.1132A>C (p.Asn378His) rs746227549 0.00001
NM_005518.4(HMGCS2):c.559+15G>A rs888099231 0.00001
NM_005518.4(HMGCS2):c.88C>G (p.Pro30Ala) rs202069145 0.00001
NM_005518.4(HMGCS2):c.95C>T (p.Ala32Val) rs199651321 0.00001
NM_005566.4(LDHA):c.*175C>T rs886048089 0.00001
NM_005566.4(LDHA):c.*228G>A rs1341687956 0.00001
NM_005566.4(LDHA):c.*253G>A rs758268446 0.00001
NM_005566.4(LDHA):c.*312G>A rs200982215 0.00001
NM_005566.4(LDHA):c.*706G>A rs757942016 0.00001
NM_005566.4(LDHA):c.*914A>G rs147174554 0.00001
NM_005566.4(LDHA):c.222A>G (p.Thr74=) rs201254300 0.00001
NM_005566.4(LDHA):c.285G>A (p.Thr95=) rs202160072 0.00001
NM_005566.4(LDHA):c.30T>C (p.Tyr10=) rs768444502 0.00001
NM_005566.4(LDHA):c.47A>G (p.Glu16Gly) rs1264619847 0.00001
NM_005589.4(ALDH6A1):c.*2774G>C rs2060253320 0.00001
NM_005589.4(ALDH6A1):c.1221C>G (p.Val407=) rs756896845 0.00001
NM_005589.4(ALDH6A1):c.1603C>T (p.Arg535Cys) rs367863044 0.00001
NM_005589.4(ALDH6A1):c.235A>G (p.Met79Val) rs771440193 0.00001
NM_005589.4(ALDH6A1):c.80G>A (p.Trp27Ter) rs764104981 0.00001
NM_005589.4(ALDH6A1):c.921G>A (p.Gly307=) rs1402487087 0.00001
NM_006721.4(ADK):c.*114T>C rs560409958 0.00001
NM_006721.4(ADK):c.*729T>G rs1307744498 0.00001
NM_006721.4(ADK):c.220A>G (p.Lys74Glu) rs201786575 0.00001
NM_006721.4(ADK):c.66-24009G>T rs886047234 0.00001
NM_006721.4(ADK):c.66-24289G>A rs571962706 0.00001
NM_006721.4(ADK):c.763-9T>C rs780824505 0.00001
NM_012463.4(ATP6V0A2):c.*2039C>G rs886049069 0.00001
NM_012463.4(ATP6V0A2):c.*2085C>G rs185883563 0.00001
NM_012463.4(ATP6V0A2):c.*3262G>A rs1593929112 0.00001
NM_012463.4(ATP6V0A2):c.*3684C>T rs1051636200 0.00001
NM_012463.4(ATP6V0A2):c.*3707A>G rs1203316393 0.00001
NM_012463.4(ATP6V0A2):c.*434T>A rs886049065 0.00001
NM_012463.4(ATP6V0A2):c.*706T>G rs1288578795 0.00001
NM_012463.4(ATP6V0A2):c.-114G>A rs1264181324 0.00001
NM_012463.4(ATP6V0A2):c.1323A>G (p.Gln441=) rs985944979 0.00001
NM_012463.4(ATP6V0A2):c.1789A>G (p.Ile597Val) rs757775762 0.00001
NM_012463.4(ATP6V0A2):c.2116G>A (p.Asp706Asn) rs777130500 0.00001
NM_012463.4(ATP6V0A2):c.2176-5C>G rs201910056 0.00001
NM_012463.4(ATP6V0A2):c.2294-4G>A rs551697992 0.00001
NM_012463.4(ATP6V0A2):c.2542A>G (p.Lys848Glu) rs769901746 0.00001
NM_012463.4(ATP6V0A2):c.2547C>A (p.Phe849Leu) rs775425809 0.00001
NM_012463.4(ATP6V0A2):c.794G>A (p.Gly265Glu) rs571403150 0.00001
NM_014049.5(ACAD9):c.1062C>T (p.Tyr354=) rs886057957 0.00001
NM_014049.5(ACAD9):c.1063G>A (p.Val355Ile) rs1266273831 0.00001
NM_014049.5(ACAD9):c.1069G>A (p.Glu357Lys) rs765411526 0.00001
NM_014049.5(ACAD9):c.1150-5C>T rs1389811503 0.00001
NM_014049.5(ACAD9):c.1398C>T (p.Thr466=) rs772732061 0.00001
NM_014049.5(ACAD9):c.1474C>T (p.Pro492Ser) rs886057958 0.00001
NM_014049.5(ACAD9):c.1496A>G (p.Asn499Ser) rs369787602 0.00001
NM_014049.5(ACAD9):c.1705A>C (p.Asn569His) rs769529395 0.00001
NM_014049.5(ACAD9):c.284A>C (p.Asp95Ala) rs761565265 0.00001
NM_014049.5(ACAD9):c.346+15del rs886057956 0.00001
NM_014049.5(ACAD9):c.453+2T>A rs1179305061 0.00001
NM_014049.5(ACAD9):c.906C>T (p.Ser302=) rs551193020 0.00001
NM_014251.2(SLC25A13):c.-203C>A rs547594289 0.00001
NM_014251.3(SLC25A13):c.*517A>G rs886062523 0.00001
NM_014251.3(SLC25A13):c.*72G>A rs755310327 0.00001
NM_014251.3(SLC25A13):c.1019-6T>C rs1207471194 0.00001
NM_014251.3(SLC25A13):c.1177+1G>A rs80338722 0.00001
NM_014251.3(SLC25A13):c.1823A>G (p.Tyr608Cys) rs754713031 0.00001
NM_014251.3(SLC25A13):c.666A>C (p.Gly222=) rs200838637 0.00001
NM_014251.3(SLC25A13):c.90C>T (p.Asn30=) rs777148254 0.00001
NM_014252.3(SLC25A15):c.-167G>A rs886050238 0.00001
NM_014252.4(SLC25A15):c.*1026G>A rs1399636214 0.00001
NM_014252.4(SLC25A15):c.*1203G>A rs1396590702 0.00001
NM_014252.4(SLC25A15):c.*1319G>C rs886050242 0.00001
NM_014252.4(SLC25A15):c.*1345G>C rs886050243 0.00001
NM_014252.4(SLC25A15):c.*1682C>T rs557871939 0.00001
NM_014252.4(SLC25A15):c.*1754A>G rs1882445253 0.00001
NM_014252.4(SLC25A15):c.*2105A>T rs886050248 0.00001
NM_014252.4(SLC25A15):c.*2332T>C rs551340341 0.00001
NM_014252.4(SLC25A15):c.*2494G>A rs886050250 0.00001
NM_014252.4(SLC25A15):c.*2498A>G rs1427156330 0.00001
NM_014252.4(SLC25A15):c.*333A>T rs1282966714 0.00001
NM_014252.4(SLC25A15):c.225C>T (p.Ile75=) rs765380976 0.00001
NM_014252.4(SLC25A15):c.346G>A (p.Ala116Thr) rs770726226 0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241 0.00001
NM_015702.3(MMADHC):c.244T>G (p.Cys82Gly) rs760590651 0.00001
NM_016180.5(SLC45A2):c.1235C>T (p.Thr412Met) rs149980670 0.00001
NM_016180.5(SLC45A2):c.161C>T (p.Ala54Val) rs1753182397 0.00001
NM_016180.5(SLC45A2):c.372T>A (p.Ala124=) rs886060519 0.00001
NM_018368.4(LMBRD1):c.115C>T (p.Arg39Trp) rs748879055 0.00001
NM_018368.4(LMBRD1):c.116G>A (p.Arg39Gln) rs886061692 0.00001
NM_018368.4(LMBRD1):c.1347A>G (p.Ile449Met) rs771561971 0.00001
NM_018368.4(LMBRD1):c.41G>C (p.Gly14Ala) rs201773048 0.00001
NM_018368.4(LMBRD1):c.867T>A (p.Ile289=) rs747318789 0.00001
NM_018706.7(DHTKD1):c.1229G>A (p.Arg410Gln) rs748482829 0.00001
NM_020166.5(MCCC1):c.*90G>A rs894828851 0.00001
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=) rs763713221 0.00001
NM_020166.5(MCCC1):c.1722T>C (p.Tyr574=) rs747015041 0.00001
NM_020166.5(MCCC1):c.1772G>A (p.Ser591Asn) rs569721834 0.00001
NM_020166.5(MCCC1):c.1839C>A (p.Ile613=) rs201782543 0.00001
NM_020166.5(MCCC1):c.9G>A (p.Ala3=) rs1191355416 0.00001
NM_020686.6(ABAT):c.*1311C>A rs532670980 0.00001
NM_020686.6(ABAT):c.*1393C>T rs537653612 0.00001
NM_020686.6(ABAT):c.*1602G>A rs1477666290 0.00001
NM_020686.6(ABAT):c.*1861C>A rs549811316 0.00001
NM_020686.6(ABAT):c.*1862C>T rs1406159963 0.00001
NM_020686.6(ABAT):c.*2089G>A rs1166367154 0.00001
NM_020686.6(ABAT):c.*2193T>G rs1045051678 0.00001
NM_020686.6(ABAT):c.*2712T>C rs2060496519 0.00001
NM_020686.6(ABAT):c.*3020A>G rs886052448 0.00001
NM_020686.6(ABAT):c.*942C>T rs886052436 0.00001
NM_020686.6(ABAT):c.1431G>A (p.Thr477=) rs573157071 0.00001
NM_020686.6(ABAT):c.285T>C (p.Asp95=) rs917180192 0.00001
NM_020686.6(ABAT):c.387C>T (p.Pro129=) rs759203240 0.00001
NM_020686.6(ABAT):c.592A>G (p.Met198Val) rs200207185 0.00001
NM_020686.6(ABAT):c.603+6T>G rs966081353 0.00001
NM_020686.6(ABAT):c.916G>A (p.Asp306Asn) rs544512086 0.00001
NM_020686.6(ABAT):c.978C>T (p.Asp326=) rs201727625 0.00001
NM_022081.6(HPS4):c.*391G>A rs886057315 0.00001
NM_022081.6(HPS4):c.-18A>G rs1159855728 0.00001
NM_022081.6(HPS4):c.-523G>T rs886057323 0.00001
NM_022081.6(HPS4):c.1479T>A (p.Asp493Glu) rs777570870 0.00001
NM_022081.6(HPS4):c.1692C>T (p.Asp564=) rs759632995 0.00001
NM_022081.6(HPS4):c.1758G>A (p.Leu586=) rs1356334936 0.00001
NM_022081.6(HPS4):c.411G>A (p.Thr137=) rs375462083 0.00001
NM_022081.6(HPS4):c.637G>A (p.Val213Ile) rs766791829 0.00001
NM_022081.6(HPS4):c.687G>A (p.Glu229=) rs758547221 0.00001
NM_022081.6(HPS4):c.765C>T (p.Ala255=) rs886057318 0.00001
NM_022081.6(HPS4):c.81G>A (p.Lys27=) rs763708665 0.00001
NM_022081.6(HPS4):c.930T>C (p.Asp310=) rs1210344296 0.00001
NM_022081.6(HPS4):c.958G>C (p.Asp320His) rs143965829 0.00001
NM_024747.6(HPS6):c.105T>C (p.Arg35=) rs573488604 0.00001
NM_024747.6(HPS6):c.1430A>C (p.Asp477Ala) rs755069670 0.00001
NM_024747.6(HPS6):c.1810C>G (p.Leu604Val) rs762013198 0.00001
NM_024747.6(HPS6):c.2166C>T (p.Phe722=) rs746069907 0.00001
NM_024747.6(HPS6):c.2254C>A (p.Pro752Thr) rs367872565 0.00001
NM_024747.6(HPS6):c.2307G>A (p.Pro769=) rs553794194 0.00001
NM_024747.6(HPS6):c.2323C>G (p.Leu775Val) rs4917959 0.00001
NM_024747.6(HPS6):c.303C>T (p.Ala101=) rs952447952 0.00001
NM_024747.6(HPS6):c.831C>G (p.Pro277=) rs1368416172 0.00001
NM_032383.5(HPS3):c.*239G>A rs886058083 0.00001
NM_032383.5(HPS3):c.1058A>G (p.Tyr353Cys) rs771822133 0.00001
NM_032383.5(HPS3):c.1196G>T (p.Ser399Ile) rs886058078 0.00001
NM_032383.5(HPS3):c.1208C>T (p.Ala403Val) rs773950483 0.00001
NM_032383.5(HPS3):c.1785A>G (p.Val595=) rs150262900 0.00001
NM_032383.5(HPS3):c.2078A>G (p.His693Arg) rs759772353 0.00001
NM_032383.5(HPS3):c.2699G>A (p.Arg900His) rs202157837 0.00001
NM_032383.5(HPS3):c.571G>A (p.Val191Ile) rs779612018 0.00001
NM_032383.5(HPS3):c.573T>C (p.Val191=) rs746331416 0.00001
NM_032383.5(HPS3):c.938A>G (p.His313Arg) rs910569690 0.00001
NM_053013.4(ENO3):c.363G>A (p.Ala121=) rs201872558 0.00001
NM_053013.4(ENO3):c.785A>G (p.Lys262Arg) rs886053166 0.00001
NM_054012.4(ASS1):c.-5-12G>A rs770116104 0.00001
NM_054012.4(ASS1):c.1053G>A (p.Val351=) rs761241799 0.00001
NM_054012.4(ASS1):c.1074G>A (p.Val358=) rs1256882753 0.00001
NM_054012.4(ASS1):c.1083C>T (p.Leu361=) rs78564724 0.00001
NM_054012.4(ASS1):c.174+11G>A rs771403927 0.00001
NM_054012.4(ASS1):c.39C>T (p.Gly13=) rs769672308 0.00001
NM_058179.4(PSAT1):c.*939C>T rs1161300205 0.00001
NM_058179.4(PSAT1):c.-26T>G rs1352659492 0.00001
NM_058179.4(PSAT1):c.1007+13G>A rs1057515672 0.00001
NM_058179.4(PSAT1):c.104T>A (p.Val35Asp) rs761364177 0.00001
NM_058179.4(PSAT1):c.270C>T (p.Leu90=) rs775726256 0.00001
NM_058179.4(PSAT1):c.335C>T (p.Ala112Val) rs778303528 0.00001
NM_058179.4(PSAT1):c.43G>C (p.Ala15Pro) rs774962204 0.00001
NM_058179.4(PSAT1):c.499G>A (p.Asp167Asn) rs767197857 0.00001
NM_058179.4(PSAT1):c.706A>C (p.Asn236His) rs138085071 0.00001
NM_058179.4(PSAT1):c.821A>C (p.Lys274Thr) rs1057515671 0.00001
NM_153006.3(NAGS):c.*115G>A rs1215816858 0.00001
NM_153006.3(NAGS):c.1231C>A (p.Leu411Met) rs199923863 0.00001
NM_175914.5(HNF4A):c.*2511A>G rs1277613130 0.00001
NM_175914.5(HNF4A):c.*2558T>C rs886056688 0.00001
NM_175914.5(HNF4A):c.*2639T>G rs886056690 0.00001
NM_175914.5(HNF4A):c.*3120T>C rs886056704 0.00001
NM_175914.5(HNF4A):c.*765G>A rs886056681 0.00001
NM_175914.5(HNF4A):c.*782G>A rs886056682 0.00001
NM_175914.5(HNF4A):c.1243C>T (p.Pro415Ser) rs150776703 0.00001
NM_175914.5(HNF4A):c.481A>G (p.Ser161Gly) rs779555087 0.00001
NM_175914.5(HNF4A):c.562G>A (p.Glu188Lys) rs771156648 0.00001
NM_175914.5(HNF4A):c.582+4A>G rs376287515 0.00001
NM_175914.5(HNF4A):c.723G>C (p.Arg241=) rs372639360 0.00001
NM_181507.1(HPS5):c.-263A>G rs886048086 0.00001
NM_181507.2(HPS5):c.*1023T>G rs886048069 0.00001
NM_181507.2(HPS5):c.*276T>G rs146958457 0.00001
NM_181507.2(HPS5):c.*469A>G rs1858594870 0.00001
NM_181507.2(HPS5):c.*839T>C rs537810532 0.00001
NM_181507.2(HPS5):c.-195A>G rs533200717 0.00001
NM_181507.2(HPS5):c.-197C>T rs886048085 0.00001
NM_181507.2(HPS5):c.1037A>G (p.Asn346Ser) rs547880287 0.00001
NM_181507.2(HPS5):c.1325A>G (p.Glu442Gly) rs747748271 0.00001
NM_181507.2(HPS5):c.1475T>A (p.Leu492Gln) rs190883305 0.00001
NM_181507.2(HPS5):c.1673G>T (p.Gly558Val) rs370396275 0.00001
NM_181507.2(HPS5):c.1803T>C (p.Thr601=) rs762327635 0.00001
NM_181507.2(HPS5):c.1837C>A (p.Leu613Ile) rs190221223 0.00001
NM_181507.2(HPS5):c.2194G>C (p.Gly732Arg) rs763599072 0.00001
NM_181507.2(HPS5):c.2716C>T (p.Arg906Trp) rs775281184 0.00001
NM_181507.2(HPS5):c.2838-13T>C rs377293025 0.00001
NM_181507.2(HPS5):c.3076G>A (p.Val1026Met) rs369368194 0.00001
NM_181507.2(HPS5):c.3214G>A (p.Ala1072Thr) rs886048075 0.00001
NM_181507.2(HPS5):c.3257G>T (p.Gly1086Val) rs773390398 0.00001
NM_181507.2(HPS5):c.3259C>T (p.Leu1087=) rs868410563 0.00001
NM_181507.2(HPS5):c.587G>A (p.Arg196Gln) rs974587263 0.00001
NM_181507.2(HPS5):c.825-14del rs886048082 0.00001
NM_183050.4(BCKDHB):c.*896A>G rs886061811 0.00001
NM_183050.4(BCKDHB):c.1031C>T (p.Thr344Ile) rs761138547 0.00001
NM_183050.4(BCKDHB):c.245A>G (p.Asp82Gly) rs150769284 0.00001
NM_183050.4(BCKDHB):c.302G>A (p.Gly101Asp) rs398124571 0.00001
NM_183050.4(BCKDHB):c.970C>T (p.Arg324Ter) rs398124603 0.00001
NM_183235.3(RAB27A):c.*1598A>G rs565137216 0.00001
NM_183235.3(RAB27A):c.*1915A>T rs1192254377 0.00001
NM_183235.3(RAB27A):c.*2031C>T rs1300772256 0.00001
NM_183235.3(RAB27A):c.*730T>C rs886051310 0.00001
NM_183235.3(RAB27A):c.473C>G (p.Pro158Arg) rs746081723 0.00001
NM_212552.3(BOLA3):c.*31T>C rs886056326 0.00001
NM_212552.3(BOLA3):c.19G>A (p.Ala7Thr) rs565294723 0.00001
NC_000008.11:g.11564608G>T rs767723868
NC_000008.11:g.93916851T>A rs4469422
NM_000016.5(ACADM):c.-169C>T rs886046522
NM_000016.5(ACADM):c.-342G>T rs886046520
NM_000016.5(ACADM):c.-375C>T rs886046519
NM_000016.6(ACADM):c.*177G>C rs1311764448
NM_000016.6(ACADM):c.*284C>T rs886046525
NM_000016.6(ACADM):c.*427T>A rs551943304
NM_000016.6(ACADM):c.*63dup rs1400150313
NM_000016.6(ACADM):c.*825del rs199923099
NM_000016.6(ACADM):c.-257G>A rs17848068
NM_000016.6(ACADM):c.-78G>C rs908019570
NM_000016.6(ACADM):c.1165A>G (p.Lys389Glu) rs1648844304
NM_000016.6(ACADM):c.526G>T (p.Ala176Ser) rs200754053
NM_000016.6(ACADM):c.624T>C (p.Asp208=) rs886046523
NM_000016.6(ACADM):c.683C>A (p.Thr228Asn) rs149678400
NM_000017.2(ACADS):c.*573G>C rs17848081
NM_000017.4(ACADS):c.*162C>T rs1273364186
NM_000017.4(ACADS):c.*174G>C rs886049032
NM_000017.4(ACADS):c.*235C>T rs1883596141
NM_000017.4(ACADS):c.*305C>A rs550652942
NM_000017.4(ACADS):c.*86C>T rs374762327
NM_000017.4(ACADS):c.*91G>T rs886049031
NM_000017.4(ACADS):c.-56C>T rs567626964
NM_000017.4(ACADS):c.1148G>T (p.Arg383Leu) rs35233375
NM_000017.4(ACADS):c.516C>T (p.Ala172=) rs531683812
NM_000017.4(ACADS):c.552C>T (p.Ala184=) rs886049030
NM_000017.4(ACADS):c.910dup (p.Leu304fs) rs1057516606
NM_000018.3(ACADVL):c.-132C>T rs886053371
NM_000018.4(ACADVL):c.*116C>G rs2071420563
NM_000018.4(ACADVL):c.*8del rs398123078
NM_000018.4(ACADVL):c.1081G>A (p.Asp361Asn) rs1331739604
NM_000018.4(ACADVL):c.1186A>G (p.Met396Val) rs2071337130
NM_000018.4(ACADVL):c.1215C>T (p.Asp405=) rs2071338251
NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr) rs118204018
NM_000018.4(ACADVL):c.1297T>C (p.Cys433Arg) rs886053374
NM_000018.4(ACADVL):c.1434+14T>A rs202217537
NM_000018.4(ACADVL):c.1578C>T (p.His526=) rs376504514
NM_000018.4(ACADVL):c.180G>C (p.Leu60=) rs886053372
NM_000018.4(ACADVL):c.1932G>A (p.Arg644=) rs886053375
NM_000018.4(ACADVL):c.300G>C (p.Gln100His) rs1268173973
NM_000018.4(ACADVL):c.481G>A (p.Ala161Thr) rs375284481
NM_000018.4(ACADVL):c.693T>A (p.Ser231=) rs77763289
NM_000045.4(ARG1):c.*73A>G rs886061062
NM_000045.4(ARG1):c.566T>A (p.Ile189Asn) rs886061061
NM_000045.4(ARG1):c.75A>G (p.Glu25=) rs755973004
NM_000045.4(ARG1):c.804G>C (p.Gly268=) rs747275658
NM_000045.4(ARG1):c.936C>T (p.His312=) rs776119677
NM_000048.4(ASL):c.-44+9G>A rs558890925
NM_000048.4(ASL):c.1143+2T>G rs2115760718
NM_000048.4(ASL):c.1395G>A (p.Ter465=) rs1339615185
NM_000048.4(ASL):c.29G>A (p.Gly10Asp) rs1786510603
NM_000048.4(ASL):c.486G>A (p.Gln162=) rs1786669549
NM_000048.4(ASL):c.531C>A (p.Ala177=) rs201974677
NM_000048.4(ASL):c.656-5C>A rs201814807
NM_000048.4(ASL):c.917G>C (p.Arg306Pro) rs755245694
NM_000071.2(CBS):c.-242T>C rs1983687076
NM_000071.3(CBS):c.*10C>A rs9978104
NM_000071.3(CBS):c.*132G>C rs550053103
NM_000071.3(CBS):c.*140G>A rs544806265
NM_000071.3(CBS):c.*286A>G rs998021241
NM_000071.3(CBS):c.*296T>C rs4987122
NM_000071.3(CBS):c.*305T>C rs1202078818
NM_000071.3(CBS):c.*394C>T rs1175113287
NM_000071.3(CBS):c.*409G>A rs571374721
NM_000071.3(CBS):c.*409G>T rs571374721
NM_000071.3(CBS):c.*472C>T rs886057096
NM_000071.3(CBS):c.*55_*57del rs886057097
NM_000071.3(CBS):c.*592T>A rs866356348
NM_000071.3(CBS):c.*681A>G rs111413325
NM_000071.3(CBS):c.*80C>T rs141447394
NM_000071.3(CBS):c.*98CTGGC[1] rs71872941
NM_000071.3(CBS):c.-50dup rs886057101
NM_000071.3(CBS):c.-81C>T rs1983542635
NM_000071.3(CBS):c.-85+10G>C rs886057102
NM_000071.3(CBS):c.-86_-85+13delinsTGAAGGGTACCGCGA rs1568943606
NM_000071.3(CBS):c.1017C>T (p.Ile339=) rs773933333
NM_000071.3(CBS):c.1146-6C>T rs1981696579
NM_000071.3(CBS):c.1194GGA[2] (p.Glu400del) rs745438246
NM_000071.3(CBS):c.1237C>T (p.Arg413Cys) rs767595472
NM_000071.3(CBS):c.1265C>T (p.Pro422Leu) rs28934892
NM_000071.3(CBS):c.1357G>T (p.Gly453Trp) rs886057099
NM_000071.3(CBS):c.1358+15C>G rs186497436
NM_000071.3(CBS):c.1453A>G (p.Lys485Glu) rs886057098
NM_000071.3(CBS):c.162G>A (p.Trp54Ter) rs199948079
NM_000071.3(CBS):c.349A>T (p.Ser117Cys) rs1982753226
NM_000071.3(CBS):c.502G>A (p.Val168Met) rs121964970
NM_000071.3(CBS):c.532G>A (p.Val178Met) rs370843514
NM_000071.3(CBS):c.612G>T (p.Val204=) rs539670390
NM_000071.3(CBS):c.664C>T (p.Gln222Ter) rs1568932262
NM_000071.3(CBS):c.887C>G (p.Thr296Arg) rs562530775
NM_000081.4(LYST):c.*1211G>A
NM_000081.4(LYST):c.*1275T>C
NM_000081.4(LYST):c.*1295T>C
NM_000081.4(LYST):c.*1356G>T
NM_000081.4(LYST):c.*1379G>C
NM_000081.4(LYST):c.*1428T>G
NM_000081.4(LYST):c.*1438C>T
NM_000081.4(LYST):c.*1499G>T
NM_000081.4(LYST):c.*1533G>A
NM_000081.4(LYST):c.*1723A>G
NM_000081.4(LYST):c.*1792A>G
NM_000081.4(LYST):c.*1831A>C
NM_000081.4(LYST):c.*1861C>A
NM_000081.4(LYST):c.*191T>C
NM_000081.4(LYST):c.*246C>T
NM_000081.4(LYST):c.*247G>T
NM_000081.4(LYST):c.*275A>T
NM_000081.4(LYST):c.*319C>G
NM_000081.4(LYST):c.*329A>G
NM_000081.4(LYST):c.*446T>C
NM_000081.4(LYST):c.*519C>T
NM_000081.4(LYST):c.*5G>A
NM_000081.4(LYST):c.*685G>T
NM_000081.4(LYST):c.*694T>C
NM_000081.4(LYST):c.*712T>C
NM_000081.4(LYST):c.*725G>A
NM_000081.4(LYST):c.*809A>G
NM_000081.4(LYST):c.*824A>G
NM_000081.4(LYST):c.*831A>G
NM_000081.4(LYST):c.*873G>C
NM_000081.4(LYST):c.*891G>C
NM_000081.4(LYST):c.*907G>A
NM_000081.4(LYST):c.*921C>T
NM_000081.4(LYST):c.*94A>G
NM_000081.4(LYST):c.*962G>A
NM_000081.4(LYST):c.-131G>C
NM_000081.4(LYST):c.-134G>A
NM_000081.4(LYST):c.-134G>C
NM_000081.4(LYST):c.-136G>A
NM_000081.4(LYST):c.-139G>A
NM_000081.4(LYST):c.-140G>C
NM_000081.4(LYST):c.-142C>T
NM_000081.4(LYST):c.-7-14T>C
NM_000081.4(LYST):c.-97-13dup
NM_000081.4(LYST):c.-97-9T>G
NM_000081.4(LYST):c.10091A>G (p.Tyr3364Cys)
NM_000081.4(LYST):c.10341G>A (p.Glu3447=)
NM_000081.4(LYST):c.10414T>C (p.Tyr3472His)
NM_000081.4(LYST):c.10525C>T (p.Arg3509Trp)
NM_000081.4(LYST):c.10657A>G (p.Ser3553Gly)
NM_000081.4(LYST):c.10707T>C (p.Thr3569=)
NM_000081.4(LYST):c.10733G>T (p.Cys3578Phe)
NM_000081.4(LYST):c.10740G>A (p.Leu3580=)
NM_000081.4(LYST):c.10838A>G (p.Tyr3613Cys)
NM_000081.4(LYST):c.10940+11A>T
NM_000081.4(LYST):c.11076C>T (p.Asn3692=)
NM_000081.4(LYST):c.11122G>A (p.Val3708Met)
NM_000081.4(LYST):c.11167G>A (p.Ala3723Thr)
NM_000081.4(LYST):c.11196-15T>G
NM_000081.4(LYST):c.11229A>G (p.Arg3743=)
NM_000081.4(LYST):c.11268-17dup rs36014994
NM_000081.4(LYST):c.11268-6_11268-5del rs36014994
NM_000081.4(LYST):c.1275C>G (p.Tyr425Ter)
NM_000081.4(LYST):c.1478A>G (p.His493Arg)
NM_000081.4(LYST):c.1565C>T (p.Ser522Leu)
NM_000081.4(LYST):c.1664A>C (p.His555Pro)
NM_000081.4(LYST):c.1722A>G (p.Leu574=)
NM_000081.4(LYST):c.1725G>A (p.Ser575=)
NM_000081.4(LYST):c.1766A>G (p.Lys589Arg)
NM_000081.4(LYST):c.1853T>A (p.Leu618His)
NM_000081.4(LYST):c.1913A>G (p.Asn638Ser)
NM_000081.4(LYST):c.193-3T>C
NM_000081.4(LYST):c.1940T>G (p.Leu647Arg)
NM_000081.4(LYST):c.1975T>C (p.Cys659Arg)
NM_000081.4(LYST):c.2004C>T (p.Ser668=)
NM_000081.4(LYST):c.2009CTT[1] (p.Ser671del)
NM_000081.4(LYST):c.2168A>G (p.Asn723Ser)
NM_000081.4(LYST):c.2258G>A (p.Ser753Asn)
NM_000081.4(LYST):c.2442T>A (p.Ser814Arg)
NM_000081.4(LYST):c.2444A>G (p.His815Arg)
NM_000081.4(LYST):c.244C>T (p.Leu82=)
NM_000081.4(LYST):c.2460T>G (p.Phe820Leu)
NM_000081.4(LYST):c.2465C>T (p.Thr822Ile)
NM_000081.4(LYST):c.2630G>C (p.Gly877Ala)
NM_000081.4(LYST):c.2681A>G (p.His894Arg)
NM_000081.4(LYST):c.2687A>G (p.Asn896Ser)
NM_000081.4(LYST):c.2725G>A (p.Val909Ile)
NM_000081.4(LYST):c.2806C>A (p.Pro936Thr)
NM_000081.4(LYST):c.280A>G (p.Thr94Ala)
NM_000081.4(LYST):c.2945A>G (p.Tyr982Cys)
NM_000081.4(LYST):c.3160A>G (p.Ser1054Gly)
NM_000081.4(LYST):c.3167A>C (p.Lys1056Thr)
NM_000081.4(LYST):c.3278G>A (p.Ser1093Asn)
NM_000081.4(LYST):c.3418T>C (p.Phe1140Leu)
NM_000081.4(LYST):c.3616G>C (p.Asp1206His)
NM_000081.4(LYST):c.3697G>A (p.Glu1233Lys)
NM_000081.4(LYST):c.3712+12T>C
NM_000081.4(LYST):c.372A>G (p.Leu124=)
NM_000081.4(LYST):c.3757A>C (p.Ser1253Arg)
NM_000081.4(LYST):c.3991G>A (p.Asp1331Asn)
NM_000081.4(LYST):c.4053A>G (p.Ser1351=)
NM_000081.4(LYST):c.4258A>G (p.Ser1420Gly)
NM_000081.4(LYST):c.5023+14G>A
NM_000081.4(LYST):c.5071C>T (p.Pro1691Ser)
NM_000081.4(LYST):c.5461-14A>T
NM_000081.4(LYST):c.5488A>T (p.Thr1830Ser)
NM_000081.4(LYST):c.5507G>A (p.Arg1836Gln)
NM_000081.4(LYST):c.5583T>C (p.Ile1861=)
NM_000081.4(LYST):c.5634+11A>G
NM_000081.4(LYST):c.5676G>A (p.Met1892Ile)
NM_000081.4(LYST):c.5774G>A (p.Ser1925Asn)
NM_000081.4(LYST):c.600C>T (p.His200=)
NM_000081.4(LYST):c.6079G>C (p.Val2027Leu)
NM_000081.4(LYST):c.6122-13del rs201404906
NM_000081.4(LYST):c.6184G>A (p.Gly2062Arg)
NM_000081.4(LYST):c.6188G>A (p.Arg2063Lys)
NM_000081.4(LYST):c.6266C>G (p.Ser2089Cys)
NM_000081.4(LYST):c.643C>T (p.Pro215Ser)
NM_000081.4(LYST):c.6454A>C (p.Ser2152Arg)
NM_000081.4(LYST):c.6460G>A (p.Asp2154Asn)
NM_000081.4(LYST):c.6522T>C (p.Val2174=)
NM_000081.4(LYST):c.6548C>T (p.Ala2183Val)
NM_000081.4(LYST):c.6666C>G (p.Ser2222=)
NM_000081.4(LYST):c.6673C>T (p.Arg2225Cys)
NM_000081.4(LYST):c.6744A>G (p.Leu2248=)
NM_000081.4(LYST):c.6772G>C (p.Ala2258Pro)
NM_000081.4(LYST):c.6781C>T (p.Arg2261Cys)
NM_000081.4(LYST):c.6982G>A (p.Asp2328Asn)
NM_000081.4(LYST):c.7121G>A (p.Arg2374His)
NM_000081.4(LYST):c.7310C>G (p.Ser2437Cys)
NM_000081.4(LYST):c.7385C>A (p.Ala2462Glu)
NM_000081.4(LYST):c.7430C>T (p.Thr2477Ile)
NM_000081.4(LYST):c.7506A>C (p.Gln2502His)
NM_000081.4(LYST):c.7836A>G (p.Ser2612=)
NM_000081.4(LYST):c.7901C>T (p.Ala2634Val)
NM_000081.4(LYST):c.8152-8G>A
NM_000081.4(LYST):c.8222G>A (p.Arg2741Gln)
NM_000081.4(LYST):c.8242C>G (p.Leu2748Val)
NM_000081.4(LYST):c.8258C>T (p.Ser2753Leu)
NM_000081.4(LYST):c.8395A>G (p.Ile2799Val)
NM_000081.4(LYST):c.8503A>G (p.Thr2835Ala)
NM_000081.4(LYST):c.8535+7C>T
NM_000081.4(LYST):c.8537A>C (p.Glu2846Ala)
NM_000081.4(LYST):c.8560G>A (p.Glu2854Lys)
NM_000081.4(LYST):c.8742A>G (p.Lys2914=)
NM_000081.4(LYST):c.8801+15G>C
NM_000081.4(LYST):c.8818C>A (p.Pro2940Thr)
NM_000081.4(LYST):c.9162+11G>A
NM_000081.4(LYST):c.9162+15A>G
NM_000081.4(LYST):c.916T>G (p.Leu306Val)
NM_000081.4(LYST):c.9244T>C (p.Leu3082=)
NM_000081.4(LYST):c.9332A>G (p.Tyr3111Cys)
NM_000081.4(LYST):c.9542A>G (p.Asn3181Ser)
NM_000081.4(LYST):c.9666T>G (p.Asp3222Glu)
NM_000081.4(LYST):c.9710A>G (p.Tyr3237Cys)
NM_000081.4(LYST):c.9742G>A (p.Val3248Ile)
NM_000081.4(LYST):c.9969C>T (p.His3323=)
NM_000081.4(LYST):c.9990G>A (p.Ala3330=)
NM_000096.4(CP):c.*1007T>A rs36120450
NM_000096.4(CP):c.*373C>T rs370247691
NM_000096.4(CP):c.*536G>C rs1725167347
NM_000096.4(CP):c.*583T>C rs886058084
NM_000096.4(CP):c.*828dup rs35907111
NM_000108.5(DLD):c.*1027T>G rs372098056
NM_000108.5(DLD):c.*1088A>G rs886061912
NM_000108.5(DLD):c.*1231A>G rs2032385167
NM_000108.5(DLD):c.*167T>C rs886061909
NM_000108.5(DLD):c.*374G>T rs576270082
NM_000108.5(DLD):c.*470G>A rs111619940
NM_000108.5(DLD):c.*470G>T rs111619940
NM_000108.5(DLD):c.*498T>G rs886061911
NM_000108.5(DLD):c.*898C>T rs2032373871
NM_000108.5(DLD):c.*947G>T rs7777259
NM_000108.5(DLD):c.-10C>T rs1269120569
NM_000108.5(DLD):c.1313T>C (p.Met438Thr) rs2032312825
NM_000108.5(DLD):c.1465-7C>G rs886061908
NM_000108.5(DLD):c.267+15del rs886061906
NM_000108.5(DLD):c.30C>A (p.Ser10=) rs779166996
NM_000108.5(DLD):c.520A>G (p.Ile174Val) rs2031981415
NM_000126.4(ETFA):c.*55C>G rs886051487
NM_000126.4(ETFA):c.-42C>T rs546128998
NM_000126.4(ETFA):c.-71T>G rs116149551
NM_000126.4(ETFA):c.351+12G>A rs2039773989
NM_000126.4(ETFA):c.366A>G (p.Arg122=) rs2039718120
NM_000126.4(ETFA):c.367G>A (p.Val123Ile) rs886051489
NM_000126.4(ETFA):c.66C>T (p.Thr22=) rs370375322
NM_000126.4(ETFA):c.882+10C>T rs2039064081
NM_000137.2(FAH):c.-159C>G rs2041062775
NM_000137.2(FAH):c.-63C>A rs532122242
NM_000137.3(FAH):c.*317G>A rs886051499
NM_000137.4(FAH):c.1062+2T>G rs2142107894
NM_000137.4(FAH):c.1152G>T (p.Leu384=) rs886051497
NM_000137.4(FAH):c.147C>G (p.Leu49=) rs886051496
NM_000137.4(FAH):c.167C>T (p.Ser56Phe) rs770312290
NM_000137.4(FAH):c.249G>A (p.Val83=) rs370095143
NM_000137.4(FAH):c.314+4A>G rs748750943
NM_000137.4(FAH):c.455+3A>G rs779426726
NM_000137.4(FAH):c.455+9T>C rs531129429
NM_000137.4(FAH):c.53C>T (p.Pro18Leu) rs2041065794
NM_000137.4(FAH):c.554-15C>T rs774367598
NM_000137.4(FAH):c.775G>C (p.Val259Leu) rs2041254739
NM_000137.4(FAH):c.90G>C (p.Pro30=) rs202195651
NM_000137.4(FAH):c.940A>G (p.Ile314Val) rs2041295204
NM_000137.4(FAH):c.96dup (p.Gly33fs) rs2142090708
NM_000137.4(FAH):c.987G>T (p.Gln329His) rs2041317218
NM_000156.6(GAMT):c.*69G>A rs577136428
NM_000156.6(GAMT):c.140C>T (p.Thr47Ile) rs886054246
NM_000156.6(GAMT):c.315G>A (p.Arg105=) rs559092619
NM_000161.3(GCH1):c.*1122A>T rs56126158
NM_000161.3(GCH1):c.*1176C>G rs113211390
NM_000161.3(GCH1):c.*1283A>C rs886050544
NM_000161.3(GCH1):c.*1294A>G rs2039576937
NM_000161.3(GCH1):c.*1473A>G rs886050543
NM_000161.3(GCH1):c.*155AATA[1] rs752359690
NM_000161.3(GCH1):c.*1907A>G rs886050542
NM_000161.3(GCH1):c.*243C>G rs841
NM_000161.3(GCH1):c.*278C>T rs756583192
NM_000161.3(GCH1):c.*507C>G rs886050547
NM_000161.3(GCH1):c.*677G>A rs10136966
NM_000161.3(GCH1):c.*727A>G rs138578359
NM_000161.3(GCH1):c.*830A>T rs542811477
NM_000161.3(GCH1):c.*883CTT[3] rs145762799
NM_000161.3(GCH1):c.*935A>C rs2039584676
NM_000161.3(GCH1):c.-72C>T rs886050551
NM_000161.3(GCH1):c.-98C>T rs886050552
NM_000161.3(GCH1):c.260_261insTGAGAACCCCCA (p.Pro86_Gln87insHisGluAsnPro)
NM_000161.3(GCH1):c.507G>C (p.Ala169=) rs150158277
NM_000161.3(GCH1):c.626+9G>T rs374007793
NM_000162.5(GCK):c.*270C>T rs886062348
NM_000162.5(GCK):c.*548G>A rs886062347
NM_000162.5(GCK):c.*721C>T rs886062346
NM_000162.5(GCK):c.*844A>C rs886062344
NM_000162.5(GCK):c.-102G>C rs781377703
NM_000162.5(GCK):c.-137C>G rs2096324530
NM_000162.5(GCK):c.-217C>G rs73691419
NM_000162.5(GCK):c.-267G>T rs59914952
NM_000162.5(GCK):c.-396C>G rs2096324894
NM_000162.5(GCK):c.-456G>A rs757266656
NM_000162.5(GCK):c.1024A>C (p.Thr342Pro) rs1000236360
NM_000162.5(GCK):c.1120G>T (p.Val374Leu) rs1415041911
NM_000162.5(GCK):c.1262A>G (p.Glu421Gly) rs1257648811
NM_000162.5(GCK):c.363+10G>C rs758495950
NM_000162.5(GCK):c.675C>T (p.Ile225=) rs772754004
NM_000162.5(GCK):c.680-14G>C rs577968084
NM_000162.5(GCK):c.792C>A (p.Gly264=) rs754094813
NM_000170.3(GLDC):c.*378G>T rs907978914
NM_000170.3(GLDC):c.*410G>A rs35834773
NM_000170.3(GLDC):c.*410G>C rs35834773
NM_000170.3(GLDC):c.*505_*506del rs3215922
NM_000170.3(GLDC):c.-173T>G rs1039584725
NM_000170.3(GLDC):c.1357G>T (p.Ala453Ser) rs1057515607
NM_000170.3(GLDC):c.1545G>A (p.Arg515=) rs121964976
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000170.3(GLDC):c.1553C>A (p.Pro518Gln) rs761064507
NM_000170.3(GLDC):c.1554G>C (p.Pro518=) rs377219563
NM_000170.3(GLDC):c.1580+5G>T rs764790596
NM_000170.3(GLDC):c.190G>T (p.Ala64Ser) rs141601131
NM_000170.3(GLDC):c.2060A>T (p.Lys687Met) rs1010614777
NM_000170.3(GLDC):c.2148C>T (p.Leu716=) rs367750112
NM_000170.3(GLDC):c.2316-6dup rs3215923
NM_000170.3(GLDC):c.2402G>A (p.Ser801Asn) rs1817555894
NM_000170.3(GLDC):c.2490G>T (p.Thr830=) rs145407593
NM_000170.3(GLDC):c.2564C>T (p.Ala855Val) rs764251972
NM_000170.3(GLDC):c.2650A>G (p.Arg884Gly) rs1057515606
NM_000170.3(GLDC):c.2947T>C (p.Trp983Arg) rs1057515605
NM_000170.3(GLDC):c.2991C>G (p.His997Gln) rs757398632
NM_000170.3(GLDC):c.861+11C>G rs757254927
NM_000178.4(GSS):c.*323G>A rs1017912804
NM_000178.4(GSS):c.*390G>T rs886056639
NM_000178.4(GSS):c.*391A>T rs886056638
NM_000178.4(GSS):c.*69G>T rs200882573
NM_000178.4(GSS):c.-29T>A rs886056641
NM_000178.4(GSS):c.-45G>C rs1387349471
NM_000178.4(GSS):c.1121T>G (p.Leu374Arg) rs2081383041
NM_000178.4(GSS):c.1260C>G (p.Val420=) rs369657861
NM_000178.4(GSS):c.448G>A (p.Ala150Thr) rs549377370
NM_000178.4(GSS):c.4del (p.Ala2fs) rs752560204
NM_000178.4(GSS):c.602C>T (p.Ser201Leu) rs1040178198
NM_000178.4(GSS):c.787G>A (p.Val263Met) rs1600381232
NM_000182.4(HADHA):c.-37T>C rs528818728
NM_000182.5(HADHA):c.*103A>T rs1360388686
NM_000182.5(HADHA):c.*202G>A rs7260
NM_000182.5(HADHA):c.*373GT[1] rs886055861
NM_000182.5(HADHA):c.*389C>G rs886055860
NM_000182.5(HADHA):c.*458TG[3] rs146500488
NM_000182.5(HADHA):c.*46G>A rs367911534
NM_000182.5(HADHA):c.*489G>A rs886055857
NM_000182.5(HADHA):c.*494G>T rs886055856
NM_000182.5(HADHA):c.*59C>T rs1669485295
NM_000182.5(HADHA):c.16G>C (p.Ala6Pro) rs150565988
NM_000182.5(HADHA):c.454-13C>T rs367636661
NM_000182.5(HADHA):c.676+6T>C rs886055863
NM_000182.5(HADHA):c.932G>C (p.Gly311Ala) rs886055862
NM_000187.3(HGD):c.-163C>G rs556156265
NM_000187.3(HGD):c.-241A>G rs886057819
NM_000187.3(HGD):c.-407C>T rs886057821
NM_000187.4(HGD):c.*117G>A rs1940481443
NM_000187.4(HGD):c.1115G>T (p.Gly372Val) rs1940645751
NM_000187.4(HGD):c.1189-4C>T rs1940489783
NM_000187.4(HGD):c.343-11G>A rs143223637
NM_000187.4(HGD):c.474G>A (p.Pro158=) rs2293734
NM_000187.4(HGD):c.474G>T (p.Pro158=) rs2293734
NM_000187.4(HGD):c.48A>G (p.Ser16=) rs886057818
NM_000187.4(HGD):c.880-4A>G rs781667761
NM_000191.3(HMGCL):c.*290T>C rs886046311
NM_000191.3(HMGCL):c.173A>G (p.Lys58Arg) rs1638633961
NM_000191.3(HMGCL):c.254T>C (p.Met85Thr) rs886046314
NM_000191.3(HMGCL):c.497+3G>A rs763178392
NM_000191.3(HMGCL):c.630C>T (p.Thr210=) rs886046313
NM_000191.3(HMGCL):c.708C>T (p.Asp236=) rs886046312
NM_000191.3(HMGCL):c.750+14T>A rs778868742
NM_000191.3(HMGCL):c.933C>G (p.Asn311Lys) rs1194563406
NM_000195.5(HPS1):c.*1001G>T rs190211350
NM_000195.5(HPS1):c.*1043C>T rs1844137935
NM_000195.5(HPS1):c.*1085G>A rs563447772
NM_000195.5(HPS1):c.*1212T>A rs557906923
NM_000195.5(HPS1):c.*1215_*1217delinsTCC rs386746903
NM_000195.5(HPS1):c.*1249G>A rs886046583
NM_000195.5(HPS1):c.*766G>T rs886046587
NM_000195.5(HPS1):c.*768A>G rs886046586
NM_000195.5(HPS1):c.*952T>G rs886046585
NM_000195.5(HPS1):c.-153del rs886046593
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.1472C>G (p.Pro491Arg) rs2296434
NM_000195.5(HPS1):c.1527C>G (p.Leu509=) rs17109850
NM_000195.5(HPS1):c.1531C>A (p.Arg511=) rs147748659
NM_000195.5(HPS1):c.1647C>T (p.Arg549=) rs886046591
NM_000195.5(HPS1):c.1968C>A (p.Asn656Lys) rs1844278117
NM_000195.5(HPS1):c.2053G>C (p.Gly685Arg) rs554593853
NM_000195.5(HPS1):c.808G>A (p.Val270Met) rs145364430
NM_000195.5(HPS1):c.847G>T (p.Gly283Trp) rs11592273
NM_000195.5(HPS1):c.968C>G (p.Pro323Arg) rs886046592
NM_000207.3(INS):c.-18+3C>G rs886048112
NM_000207.3(INS):c.153A>G (p.Thr51=) rs773789432
NM_000207.3(INS):c.187+15C>A rs754089310
NM_000207.3(INS):c.188-3C>A rs886048111
NM_000207.3(INS):c.67G>A (p.Ala23Thr) rs13306444
NM_000207.3(INS):c.72C>A (p.Ala24=) rs539284976
NM_000274.4(OAT):c.*275A>G rs886046808
NM_000274.4(OAT):c.-30+11G>A rs886046811
NM_000274.4(OAT):c.-59G>C rs144950523
NM_000274.4(OAT):c.-66A>G rs1387021384
NM_000274.4(OAT):c.110C>T (p.Pro37Leu) rs747742850
NM_000274.4(OAT):c.1138A>G (p.Ile380Val) rs545710763
NM_000274.4(OAT):c.123T>C (p.Asp41=) rs376051303
NM_000274.4(OAT):c.1261A>G (p.Lys421Glu) rs1434415037
NM_000274.4(OAT):c.192_193del (p.Gly65fs) rs386833600
NM_000274.4(OAT):c.494A>C (p.Lys165Thr) rs1951665737
NM_000274.4(OAT):c.521-15_521-12del rs376636397
NM_000274.4(OAT):c.533G>C (p.Trp178Ser) rs267606923
NM_000274.4(OAT):c.604C>A (p.Pro202Thr) rs868567649
NM_000274.4(OAT):c.648+13C>A rs779470531
NM_000274.4(OAT):c.911T>A (p.Val304Glu) rs886046810
NM_000275.3(OCA2):c.*371G>C rs112155098
NM_000275.3(OCA2):c.*410C>A rs2030222775
NM_000275.3(OCA2):c.1319T>C (p.Leu440Ser) rs2041306355
NM_000275.3(OCA2):c.1352C>A (p.Pro451His) rs886051024
NM_000275.3(OCA2):c.1370G>T (p.Cys457Phe) rs886051023
NM_000275.3(OCA2):c.1453G>A (p.Gly485Arg) rs747214535
NM_000275.3(OCA2):c.1504-12_1504-9del rs886051022
NM_000275.3(OCA2):c.1553T>A (p.Leu518His) rs886051021
NM_000275.3(OCA2):c.1699G>T (p.Glu567Ter) rs779086242
NM_000275.3(OCA2):c.1842+6C>T rs2040177115
NM_000275.3(OCA2):c.2208G>A (p.Ser736=) rs1800418
NM_000275.3(OCA2):c.2208G>T (p.Ser736=) rs1800418
NM_000275.3(OCA2):c.2229G>A (p.Pro743=) rs41307118
NM_000275.3(OCA2):c.2287C>A (p.Leu763Met) rs139837760
NM_000275.3(OCA2):c.2296C>A (p.Pro766Thr) rs144064082
NM_000275.3(OCA2):c.2412C>G (p.Phe804Leu) rs747340554
NM_000275.3(OCA2):c.2438G>A (p.Gly813Asp) rs2030274876
NM_000275.3(OCA2):c.654C>A (p.Asn218Lys) rs2042479500
NM_000275.3(OCA2):c.681del (p.Leu228fs) rs1566803740
NM_000275.3(OCA2):c.722C>G (p.Pro241Arg) rs2305253
NM_000275.3(OCA2):c.885G>A (p.Leu295=) rs2042383052
NM_000277.2(PAH):c.-224G>A rs886048892
NM_000277.2(PAH):c.-232C>G rs886048893
NM_000277.2(PAH):c.-460delG rs113191080
NM_000277.3(PAH):c.*772_*775del rs551502562
NM_000277.3(PAH):c.-73C>G rs886048891
NM_000277.3(PAH):c.1055del (p.Gly352fs) rs62516094
NM_000277.3(PAH):c.1089G>C (p.Lys363Asn) rs63329263
NM_000277.3(PAH):c.1114A>T (p.Thr372Ser) rs62517163
NM_000277.3(PAH):c.125AAG[2] (p.Glu44del) rs199475628
NM_000277.3(PAH):c.23A>C (p.Asn8Thr) rs1878414153
NM_000277.3(PAH):c.411C>T (p.Ser137=) rs1801146
NM_000277.3(PAH):c.44T>A (p.Leu15His) rs1319374413
NM_000277.3(PAH):c.638T>C (p.Leu213Pro) rs62516109
NM_000277.3(PAH):c.805A>C (p.Ile269Leu) rs62508692
NM_000277.3(PAH):c.897T>C (p.Phe299=) rs886048890
NM_000277.3(PAH):c.912G>A (p.Gln304=) rs199475583
NM_000284.4(PDHA1):c.*1013C>A rs1042456
NM_000284.4(PDHA1):c.*110C>T rs709610
NM_000284.4(PDHA1):c.*1624T>C rs2063283398
NM_000284.4(PDHA1):c.*198G>A rs1003909173
NM_000284.4(PDHA1):c.*525C>G rs778207227
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys) rs863224148
NM_000284.4(PDHA1):c.379C>T (p.Arg127Trp) rs199959402
NM_000289.5(PFKM):c.-176C>T rs886049451
NM_000289.5(PFKM):c.-64C>T rs886049452
NM_000289.6(PFKM):c.*134G>A rs886049456
NM_000289.6(PFKM):c.*163G>A rs370250637
NM_000289.6(PFKM):c.*489T>A rs886049457
NM_000289.6(PFKM):c.*503G>T rs747797192
NM_000289.6(PFKM):c.*564G>A rs1951034681
NM_000289.6(PFKM):c.*98G>A rs886049455
NM_000289.6(PFKM):c.1063-7C>T rs776228408
NM_000289.6(PFKM):c.1648T>C (p.Cys550Arg) rs1950621584
NM_000289.6(PFKM):c.2003del (p.Pro668fs) rs767095759
NM_000289.6(PFKM):c.360C>T (p.Gly120=) rs886049453
NM_000290.4(PGAM2):c.232T>C (p.Trp78Arg) rs1191913196
NM_000290.4(PGAM2):c.244G>T (p.Val82Leu) rs528467394
NM_000290.4(PGAM2):c.426C>T (p.Tyr142=) rs376134077
NM_000290.4(PGAM2):c.455C>T (p.Thr152Ile) rs199869174
NM_000290.4(PGAM2):c.511A>C (p.Ile171Leu) rs372452057
NM_000291.4(PGK1):c.576G>C (p.Lys192Asn)
NM_000298.6(PKLR):c.*13T>C rs1052177
NM_000298.6(PKLR):c.*13T>G rs1052177
NM_000298.6(PKLR):c.*14C>G rs8177994
NM_000298.6(PKLR):c.*351T>A rs886045349
NM_000298.6(PKLR):c.*356T>C rs1674470980
NM_000298.6(PKLR):c.*500C>T rs1674463281
NM_000298.6(PKLR):c.*755T>C rs1674455124
NM_000298.6(PKLR):c.1117-4C>G rs1572054195
NM_000298.6(PKLR):c.188C>G (p.Ala63Gly) rs886045353
NM_000298.6(PKLR):c.284-9T>C rs886045352
NM_000298.6(PKLR):c.375+10G>T rs8177971
NM_000298.6(PKLR):c.376-11C>G rs1647538523
NM_000298.6(PKLR):c.391_393del (p.Ile131del) rs886045351
NM_000298.6(PKLR):c.491C>A (p.Thr164Asn) rs1220156417
NM_000298.6(PKLR):c.505G>T (p.Gly169Trp) rs199824528
NM_000298.6(PKLR):c.639G>T (p.Val213=) rs750102822
NM_000298.6(PKLR):c.943G>A (p.Glu315Lys) rs1557959063
NM_000298.6(PKLR):c.966-12C>T rs1188767860
NM_000298.6(PKLR):c.966G>T (p.Arg322Ser) rs763964110
NM_000298.6(PKLR):c.972T>C (p.Asp324=) rs8177974
NM_000320.3(QDPR):c.*187A>C rs1717979575
NM_000320.3(QDPR):c.*277T>C rs1717973938
NM_000320.3(QDPR):c.*374G>C rs1717970851
NM_000320.3(QDPR):c.*450T>A rs886059237
NM_000320.3(QDPR):c.*46C>A rs567249048
NM_000320.3(QDPR):c.*682A>G rs699459
NM_000320.3(QDPR):c.-17G>T rs560782260
NM_000320.3(QDPR):c.-24G>T rs529698353
NM_000320.3(QDPR):c.296-15G>T rs776479029
NM_000320.3(QDPR):c.297T>C (p.Ser99=) rs1309099253
NM_000320.3(QDPR):c.437-6T>A rs886059239
NM_000320.3(QDPR):c.486G>C (p.Gln162His) rs761732291
NM_000320.3(QDPR):c.49G>A (p.Gly17Ser)
NM_000352.6(ABCC8):c.*93T>A rs886048046
NM_000352.6(ABCC8):c.1215C>T (p.Ser405=) rs1956635063
NM_000352.6(ABCC8):c.1269C>A (p.Ile423=) rs370169777
NM_000352.6(ABCC8):c.1282C>G (p.Leu428Val) rs1956631543
NM_000352.6(ABCC8):c.1605C>T (p.Ala535=) rs886048055
NM_000352.6(ABCC8):c.2041-12C>T rs201419039
NM_000352.6(ABCC8):c.2117-10C>A rs886048053
NM_000352.6(ABCC8):c.2163G>T (p.Ser721=) rs201724038
NM_000352.6(ABCC8):c.2256-9C>T rs886048052
NM_000352.6(ABCC8):c.2993G>C (p.Arg998Pro) rs776248166
NM_000352.6(ABCC8):c.3076C>T (p.Leu1026=) rs1354438772
NM_000352.6(ABCC8):c.3435C>T (p.Ser1145=) rs371089976
NM_000352.6(ABCC8):c.343A>G (p.Met115Val) rs146695489
NM_000352.6(ABCC8):c.3558-6C>G rs886048050
NM_000352.6(ABCC8):c.3650+4C>G rs374315114
NM_000352.6(ABCC8):c.3705T>C (p.Ile1235=) rs886048049
NM_000352.6(ABCC8):c.4090G>A (p.Val1364Ile) rs138642224
NM_000352.6(ABCC8):c.4199-8C>T rs886048048
NM_000352.6(ABCC8):c.4307+13A>C rs886048047
NM_000352.6(ABCC8):c.4366A>G (p.Ile1456Val) rs1953847411
NM_000352.6(ABCC8):c.4605C>T (p.Ile1535=) rs780203284
NM_000352.6(ABCC8):c.580-7C>A rs771196330
NM_000352.6(ABCC8):c.587T>A (p.Ile196Asn) rs1957204723
NM_000352.6(ABCC8):c.734T>C (p.Ile245Thr) rs1433841842
NM_000352.6(ABCC8):c.74G>T (p.Gly25Val) rs763302648
NM_000353.3(TAT):c.*163A>C rs2044175750
NM_000353.3(TAT):c.*170G>A rs2044175692
NM_000353.3(TAT):c.*208G>A rs886052271
NM_000353.3(TAT):c.*253G>C rs190776539
NM_000353.3(TAT):c.*403G>T rs2044173844
NM_000353.3(TAT):c.*479T>A rs1001474537
NM_000353.3(TAT):c.*660G>C rs2044172230
NM_000353.3(TAT):c.*774G>A rs886052267
NM_000353.3(TAT):c.*991T>C rs2044168812
NM_000353.3(TAT):c.1115T>C (p.Met372Thr) rs2044188199
NM_000353.3(TAT):c.464T>C (p.Leu155Ser) rs1808464727
NM_000353.3(TAT):c.558C>T (p.Tyr186=) rs886052274
NM_000353.3(TAT):c.618T>G (p.Asp206Glu) rs772304832
NM_000353.3(TAT):c.997C>A (p.Arg333Ser) rs528193761
NM_000360.4(TH):c.*102C>A rs1846011369
NM_000360.4(TH):c.*109G>A rs886048113
NM_000360.4(TH):c.*135C>A rs1347143870
NM_000360.4(TH):c.*52C>T rs570989291
NM_000360.4(TH):c.1069G>A (p.Gly357Arg) rs886048114
NM_000360.4(TH):c.1105-5C>G rs535794692
NM_000360.4(TH):c.1119G>A (p.Thr373=) rs143405115
NM_000360.4(TH):c.115C>G (p.Gln39Glu) rs886048115
NM_000360.4(TH):c.1170C>G (p.Ala390=) rs199839852
NM_000360.4(TH):c.1287A>C (p.Ser429=) rs1590165106
NM_000360.4(TH):c.202C>T (p.Leu68=) rs372393199
NM_000360.4(TH):c.424G>T (p.Ala142Ser) rs770167236
NM_000360.4(TH):c.44G>A (p.Arg15His) rs199648386
NM_000360.4(TH):c.81G>T (p.Glu27Asp) rs139742336
NM_000365.6(TPI1):c.*134C>A rs782308993
NM_000365.6(TPI1):c.*173G>A rs1191018741
NM_000365.6(TPI1):c.*520T>C rs1944574698
NM_000365.6(TPI1):c.*541dup rs201871949
NM_000365.6(TPI1):c.*542_*544del rs782559646
NM_000365.6(TPI1):c.-29C>T rs181882616
NM_000365.6(TPI1):c.239+8C>A rs782359362
NM_000365.6(TPI1):c.558C>T (p.His186=) rs369241009
NM_000372.5(TYR):c.-41A>G rs886048744
NM_000372.5(TYR):c.1270T>A (p.Ser424Thr) rs748618759
NM_000372.5(TYR):c.1396T>G (p.Ser466Ala) rs1944893007
NM_000372.5(TYR):c.191C>T (p.Pro64Leu) rs370798325
NM_000372.5(TYR):c.464C>T (p.Thr155Ile) rs920624553
NM_000372.5(TYR):c.705T>G (p.Tyr235Ter) rs138817690
NM_000372.5(TYR):c.978A>G (p.Gln326=) rs1311286117
NM_000387.5(SLC25A20):c.-116C>A rs566770224
NM_000387.6(SLC25A20):c.*235T>C rs1360442332
NM_000387.6(SLC25A20):c.*371T>G rs2083587320
NM_000387.6(SLC25A20):c.*577del rs533476473
NM_000387.6(SLC25A20):c.*577dup rs533476473
NM_000387.6(SLC25A20):c.*710G>C rs1243166318
NM_000387.6(SLC25A20):c.-71G>C rs886058660
NM_000387.6(SLC25A20):c.105+7_105+10dup rs775942451
NM_000387.6(SLC25A20):c.28C>T (p.Pro10Ser) rs753219087
NM_000387.6(SLC25A20):c.326+1del rs757552268
NM_000387.6(SLC25A20):c.424G>A (p.Ala142Thr) rs2083636632
NM_000387.6(SLC25A20):c.47C>T (p.Ala16Val) rs2083928547
NM_000387.6(SLC25A20):c.722C>T (p.Pro241Leu) rs2083598976
NM_000387.6(SLC25A20):c.779_781del (p.Glu260del) rs754871147
NM_000429.3(MAT1A):c.*1021C>A rs886047310
NM_000429.3(MAT1A):c.*1078C>T rs886047308
NM_000429.3(MAT1A):c.*149T>C rs886047317
NM_000429.3(MAT1A):c.*1599_*1600insTTCAGGCTGG rs145159688
NM_000429.3(MAT1A):c.*1661G>C rs1285105177
NM_000429.3(MAT1A):c.*1924C>T rs772763454
NM_000429.3(MAT1A):c.*428G>T rs766915369
NM_000429.3(MAT1A):c.*604T>C rs1841432489
NM_000429.3(MAT1A):c.*730C>T rs886047313
NM_000429.3(MAT1A):c.*747C>T rs886047312
NM_000429.3(MAT1A):c.*84C>T rs886047319
NM_000429.3(MAT1A):c.*863G>A rs41284064
NM_000429.3(MAT1A):c.-66del rs367639318
NM_000429.3(MAT1A):c.-71_-66dup rs367639318
NM_000429.3(MAT1A):c.-73_-72insGAAAAA rs145126070
NM_000429.3(MAT1A):c.-73_-72insGAAAAAA rs145126070
NM_000429.3(MAT1A):c.-75G>A rs74815121
NM_000429.3(MAT1A):c.-90GAA[7] rs10694757
NM_000429.3(MAT1A):c.-90GAA[8] rs10694757
NM_000429.3(MAT1A):c.-90GAA[9] rs10694757
NM_000429.3(MAT1A):c.952-9T>C rs886047320
NM_000456.2(SUOX):c.*504G>C rs533950144
NM_000458.4(HNF1B):c.*409A>G rs2031989734
NM_000458.4(HNF1B):c.*585T>C rs886052889
NM_000458.4(HNF1B):c.*938A>G rs574000398
NM_000458.4(HNF1B):c.-31C>G rs771697321
NM_000458.4(HNF1B):c.-36del rs756559188
NM_000458.4(HNF1B):c.1006C>G (p.His336Asp)
NM_000458.4(HNF1B):c.1395C>G (p.Ser465Arg)
NM_000458.4(HNF1B):c.1418A>G (p.Gln473Arg) rs886052891
NM_000458.4(HNF1B):c.1474G>A (p.Gly492Ser)
NM_000458.4(HNF1B):c.150T>G (p.Pro50=) rs2034119944
NM_000458.4(HNF1B):c.1654-11T>C rs193922484
NM_000458.4(HNF1B):c.1654-14CT[4] rs886052890
NM_000458.4(HNF1B):c.182T>G (p.Val61Gly)
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
NM_000458.4(HNF1B):c.309G>C (p.Ala103=) rs1197263675
NM_000458.4(HNF1B):c.345-4C>T rs200590728
NM_000458.4(HNF1B):c.438C>T (p.Asn146=) rs2033930573
NM_000458.4(HNF1B):c.477T>C (p.Pro159=) rs1212716750
NM_000458.4(HNF1B):c.517G>A (p.Val173Ile)
NM_000458.4(HNF1B):c.657C>T (p.Ser219=) rs148713761
NM_000458.4(HNF1B):c.684C>G (p.Asn228Lys)
NM_000458.4(HNF1B):c.928C>T (p.Arg310Trp) rs988279557
NM_000481.3(AMT):c.-100C>G rs192377809
NM_000481.3(AMT):c.-100C>T rs192377809
NM_000481.3(AMT):c.-121dup rs886058684
NM_000481.4(AMT):c.*621A>G rs2049007839
NM_000481.4(AMT):c.1112G>A (p.Arg371His) rs147006017
NM_000481.4(AMT):c.1190C>A (p.Thr397Lys) rs886058683
NM_000481.4(AMT):c.1199A>G (p.Tyr400Cys) rs201548428
NM_000481.4(AMT):c.148G>T (p.Val50Leu) rs148917929
NM_000481.4(AMT):c.339+3G>A rs752570901
NM_000481.4(AMT):c.471+12_471+13del rs370772505
NM_000481.4(AMT):c.471+2T>C rs386833684
NM_000481.4(AMT):c.513C>T (p.Gly171=) rs555045517
NM_000481.4(AMT):c.86C>T (p.Ala29Val) rs2049122995
NM_000525.4(KCNJ11):c.*1037G>T rs767140617
NM_000525.4(KCNJ11):c.*1415G>A rs955060881
NM_000525.4(KCNJ11):c.*50G>A rs886048041
NM_000525.4(KCNJ11):c.*62G>A rs5213
NM_000525.4(KCNJ11):c.*678C>T rs886048036
NM_000525.4(KCNJ11):c.*732C>T rs886048035
NM_000525.4(KCNJ11):c.*826_*827dup rs886048034
NM_000525.4(KCNJ11):c.*842C>G rs1591693562
NM_000525.4(KCNJ11):c.*937C>T rs886048033
NM_000525.4(KCNJ11):c.*99C>G rs886048040
NM_000525.4(KCNJ11):c.-150G>A rs886048043
NM_000525.4(KCNJ11):c.-424C>T rs1953601577
NM_000525.4(KCNJ11):c.-559G>C rs547932593
NM_000525.4(KCNJ11):c.156G>A (p.Gln52=) rs1953591194
NM_000525.4(KCNJ11):c.525C>A (p.His175Gln) rs865963367
NM_000525.4(KCNJ11):c.741C>T (p.Asn247=) rs886048042
NM_000531.6(OTC):c.216+10A>G rs1473033144
NM_000531.6(OTC):c.814G>A (p.Glu272Lys) rs2068530106
NM_000531.6(OTC):c.974C>T (p.Pro325Leu) rs1602034625
NM_000545.8(HNF1A):c.*1071G>T rs886049035
NM_000545.8(HNF1A):c.*193C>A rs972789249
NM_000545.8(HNF1A):c.*196G>A rs1877471070
NM_000545.8(HNF1A):c.*335C>T rs1877483762
NM_000545.8(HNF1A):c.*39G>C rs758414199
NM_000545.8(HNF1A):c.*589C>T rs55962050
NM_000545.8(HNF1A):c.1060A>G (p.Thr354Ala) rs1877098583
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
NM_000545.8(HNF1A):c.1594G>A (p.Ala532Thr) rs1421619915
NM_000545.8(HNF1A):c.1687A>G (p.Thr563Ala) rs1877313665
NM_000545.8(HNF1A):c.1727A>C (p.Gln576Pro) rs1877318918
NM_000545.8(HNF1A):c.1747C>G (p.Arg583Gly) rs137853239
NM_000545.8(HNF1A):c.1768+11C>T rs886049034
NM_000545.8(HNF1A):c.327-14T>C rs886049033
NM_000545.8(HNF1A):c.526C>T (p.Gln176Ter) rs754728827
NM_000545.8(HNF1A):c.60G>C (p.Gly20=) rs1449504165
NM_000545.8(HNF1A):c.977C>T (p.Ala326Val) rs369764257
NM_000550.3(TYRP1):c.*294AAGT[1] rs71329877
NM_000550.3(TYRP1):c.*319_*320dup rs886063414
NM_000550.3(TYRP1):c.*468ATTA[1] rs71329878
NM_000550.3(TYRP1):c.*573T>G rs886063415
NM_000550.3(TYRP1):c.*591G>T rs886063416
NM_000550.3(TYRP1):c.*727C>A rs535597991
NM_000550.3(TYRP1):c.*775G>A rs1818332158
NM_000550.3(TYRP1):c.*934T>G rs1818336065
NM_000550.3(TYRP1):c.*955dup rs763340664
NM_000550.3(TYRP1):c.*98T>A rs1818316894
NM_000550.3(TYRP1):c.-69G>A rs181350173
NM_000550.3(TYRP1):c.-69G>T rs181350173
NM_000550.3(TYRP1):c.1279T>C (p.Leu427=) rs148782717
NM_000550.3(TYRP1):c.138C>T (p.Ser46=) rs185178312
NM_000550.3(TYRP1):c.1409G>A (p.Ser470Asn) rs201605146
NM_000550.3(TYRP1):c.1421G>A (p.Ser474Asn) rs746824848
NM_000550.3(TYRP1):c.1560A>G (p.Gln520=) rs773136421
NM_000550.3(TYRP1):c.308G>A (p.Gly103Asp) rs761214982
NM_000550.3(TYRP1):c.385G>C (p.Val129Leu) rs759267338
NM_000550.3(TYRP1):c.917C>G (p.Thr306Ser) rs773285733
NM_000687.3(AHCY):c.-107G>A rs886056637
NM_000687.4(AHCY):c.*301T>G rs13245
NM_000687.4(AHCY):c.*678C>T rs371150068
NM_000687.4(AHCY):c.-50A>C rs199791897
NM_000687.4(AHCY):c.1019C>G (p.Ala340Gly) rs1205008917
NM_000687.4(AHCY):c.1167+15C>A rs1229673205
NM_000687.4(AHCY):c.1170G>A (p.Leu390=) rs886056636
NM_000687.4(AHCY):c.1188A>T (p.Glu396Asp) rs886056635
NM_000687.4(AHCY):c.241A>G (p.Ile81Val) rs2036496036
NM_000687.4(AHCY):c.578A>G (p.Tyr193Cys) rs772905203
NM_000687.4(AHCY):c.766+2T>G rs1348839036
NM_000709.4(BCKDHA):c.*301G>A rs2039411821
NM_000709.4(BCKDHA):c.*365A>G rs886054464
NM_000709.4(BCKDHA):c.114C>G (p.Pro38=) rs11549935
NM_000709.4(BCKDHA):c.114C>T (p.Pro38=) rs11549935
NM_000709.4(BCKDHA):c.143T>C (p.Leu48Pro) rs879103338
NM_000709.4(BCKDHA):c.441C>G (p.Ala147=) rs2039284438
NM_000709.4(BCKDHA):c.648G>T (p.Ala216=) rs114716391
NM_000709.4(BCKDHA):c.842G>T (p.Gly281Val) rs886054461
NM_000709.4(BCKDHA):c.995+8C>T rs886054462
NM_000709.4(BCKDHA):c.995+9C>G rs13343330
NM_000784.3(CYP27A1):c.-182C>T rs886055628
NM_000784.3(CYP27A1):c.-357dup rs397795841
NM_000784.4(CYP27A1):c.*153G>C rs886055631
NM_000784.4(CYP27A1):c.*209G>A rs540140393
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_000784.4(CYP27A1):c.1514C>T (p.Thr505Met) rs76822427
NM_000784.4(CYP27A1):c.1559A>C (p.Lys520Thr) rs1943774432
NM_000784.4(CYP27A1):c.309G>A (p.Gln103=) rs1306558952
NM_000784.4(CYP27A1):c.344A>G (p.Glu115Gly) rs1943690611
NM_000784.4(CYP27A1):c.398G>A (p.Trp133Ter) rs1559391480
NM_000784.4(CYP27A1):c.447-3C>T rs770217459
NM_000784.4(CYP27A1):c.491G>A (p.Arg164Gln) rs148417330
NM_000784.4(CYP27A1):c.506C>T (p.Ala169Val) rs59443548
NM_000784.4(CYP27A1):c.526del (p.Asp176fs) rs765512351
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs) rs758739930
NM_000784.4(CYP27A1):c.885C>T (p.Ala295=) rs1943740072
NM_000925.4(PDHB):c.*160A>G rs2062883381
NM_000925.4(PDHB):c.*328A>G rs2062880125
NM_000925.4(PDHB):c.*366_*367insAA rs886058775
NM_000925.4(PDHB):c.*92C>A rs4228
NM_000925.4(PDHB):c.249T>C (p.Ile83=) rs886058779
NM_000925.4(PDHB):c.640C>T (p.Pro214Ser) rs886058778
NM_000925.4(PDHB):c.710T>A (p.Ile237Lys) rs779577082
NM_000925.4(PDHB):c.793-19_793-14del rs759146810
NM_000925.4(PDHB):c.93G>T (p.Leu31=) rs886058780
NM_000925.4(PDHB):c.96+12G>A rs773433623
NM_001002755.2(NFU1):c.-150_-149GC[1] rs777119948
NM_001002755.2(NFU1):c.-41C>T rs775615702
NM_001002755.2(NFU1):c.-48G>A rs886056268
NM_001002755.4(NFU1):c.-7G>A rs1208588409
NM_001002755.4(NFU1):c.303-13dup rs372898848
NM_001002755.4(NFU1):c.332G>T (p.Ser111Ile) rs756434076
NM_001002755.4(NFU1):c.495A>T (p.Glu165Asp) rs886056266
NM_001002755.4(NFU1):c.84T>A (p.Asn28Lys) rs1673654615
NM_001032386.2(SUOX):c.*187G>T rs886049684
NM_001032386.2(SUOX):c.*311A>G rs1890704474
NM_001032386.2(SUOX):c.*355T>C rs886049685
NM_001032386.2(SUOX):c.-129A>G rs1352495624
NM_001032386.2(SUOX):c.-25G>C rs886049680
NM_001032386.2(SUOX):c.1247C>T (p.Ser416Phe) rs886049683
NM_001032386.2(SUOX):c.1281G>C (p.Ser427=) rs773115
NM_001032386.2(SUOX):c.1281G>T (p.Ser427=) rs773115
NM_001032386.2(SUOX):c.1586G>A (p.Arg529Gln) rs754321646
NM_001032386.2(SUOX):c.1612C>T (p.Arg538Cys) rs758495258
NM_001032386.2(SUOX):c.23T>C (p.Val8Ala) rs537720526
NM_001032386.2(SUOX):c.364C>G (p.Pro122Ala) rs886049682
NM_001032386.2(SUOX):c.621C>T (p.Tyr207=) rs144469629
NM_001032386.2(SUOX):c.713C>T (p.Pro238Leu) rs557184203
NM_001033044.4(GLUL):c.*1281G>A rs1650008989
NM_001033044.4(GLUL):c.*1286ATT[1] rs769384071
NM_001033044.4(GLUL):c.*1289A>T rs191614640
NM_001033044.4(GLUL):c.*129G>T rs886045616
NM_001033044.4(GLUL):c.*1467GT[1] rs138636848
NM_001033044.4(GLUL):c.*1563_*1566del rs559713506
NM_001033044.4(GLUL):c.*1676T>C rs1649990309
NM_001033044.4(GLUL):c.*169G>A rs886045615
NM_001033044.4(GLUL):c.*1909_*1910insTCATTT rs3028837
NM_001033044.4(GLUL):c.*1910_*1913delinsTCATTTAAGT rs886045605
NM_001033044.4(GLUL):c.*1913A>T rs4517308
NM_001033044.4(GLUL):c.*1932T>G rs886045603
NM_001033044.4(GLUL):c.*1994G>A rs1649970022
NM_001033044.4(GLUL):c.*2128C>T rs1051315462
NM_001033044.4(GLUL):c.*2130T>A rs886045602
NM_001033044.4(GLUL):c.*2232C>T rs564315236
NM_001033044.4(GLUL):c.*248dup rs541187376
NM_001033044.4(GLUL):c.*2604C>A rs886045599
NM_001033044.4(GLUL):c.*2631G>A rs2296522
NM_001033044.4(GLUL):c.*2631G>C rs2296522
NM_001033044.4(GLUL):c.*272C>G rs184789378
NM_001033044.4(GLUL):c.*289G>T rs1222418916
NM_001033044.4(GLUL):c.*297C>A rs1027309183
NM_001033044.4(GLUL):c.*306G>T rs995133894
NM_001033044.4(GLUL):c.*481G>A rs886045612
NM_001033044.4(GLUL):c.*492GA[2] rs774211990
NM_001033044.4(GLUL):c.*527G>T rs1277149065
NM_001033044.4(GLUL):c.*684dup rs200642235
NM_001033044.4(GLUL):c.*981T>G rs886045609
NM_001033044.4(GLUL):c.-119G>A rs1194932776
NM_001033044.4(GLUL):c.-14+1008C>G rs145293725
NM_001033044.4(GLUL):c.-14+10del rs886045619
NM_001033044.4(GLUL):c.-14+853_-14+855del rs140356059
NM_001033044.4(GLUL):c.-14+892G>A rs192236496
NM_001033044.4(GLUL):c.-14+998C>T rs1650374122
NM_001033044.4(GLUL):c.-33C>T rs1571413734
NM_001080.3(ALDH5A1):c.*1294C>T rs114422378
NM_001080.3(ALDH5A1):c.*1322C>T rs886061276
NM_001080.3(ALDH5A1):c.*1392C>A rs116311769
NM_001080.3(ALDH5A1):c.*1531A>G rs886061277
NM_001080.3(ALDH5A1):c.*1537G>C rs1760023694
NM_001080.3(ALDH5A1):c.*2128A>G rs1407401466
NM_001080.3(ALDH5A1):c.*2264G>T rs1760039816
NM_001080.3(ALDH5A1):c.*2449A>G rs886061279
NM_001080.3(ALDH5A1):c.*2778del rs771652776
NM_001080.3(ALDH5A1):c.*2788C>G rs1174814411
NM_001080.3(ALDH5A1):c.*3253C>T rs552086179
NM_001080.3(ALDH5A1):c.*56C>T rs182998380
NM_001080.3(ALDH5A1):c.*652_*655del rs779688377
NM_001080.3(ALDH5A1):c.*659T>C rs886061271
NM_001080.3(ALDH5A1):c.1375G>T (p.Ala459Ser) rs749276622
NM_001080.3(ALDH5A1):c.1456G>C (p.Glu486Gln) rs1759977925
NM_001080.3(ALDH5A1):c.208C>A (p.Leu70Ile) rs886061268
NM_001080.3(ALDH5A1):c.304G>C (p.Val102Leu) rs1444935451
NM_001080.3(ALDH5A1):c.373C>T (p.Arg125Trp) rs201082048
NM_001080.3(ALDH5A1):c.535A>G (p.Ile179Val) rs1759245914
NM_001080.3(ALDH5A1):c.709G>T (p.Ala237Ser) rs62621664
NM_001080.3(ALDH5A1):c.782G>A (p.Arg261Gln) rs772361710
NM_001080.3(ALDH5A1):c.948T>G (p.Phe316Leu) rs1172837609
NM_001243177.4(ALDOA):c.364G>C (p.Asp122His) rs201468609
NM_001243177.4(ALDOA):c.437G>A (p.Arg146His) rs747482925
NM_001243177.4(ALDOA):c.541+17del rs886051891
NM_001243177.4(ALDOA):c.659A>G (p.Glu220Gly) rs886051892
NM_001301365.1(LYST):c.-98+16250G>C
NM_001352514.2(HLCS):c.*1206C>A rs73902720
NM_001352514.2(HLCS):c.*1589CAAA[2] rs201997019
NM_001352514.2(HLCS):c.*1614dup rs886057068
NM_001352514.2(HLCS):c.*1997G>A rs886057066
NM_001352514.2(HLCS):c.*2023G>A rs886057065
NM_001352514.2(HLCS):c.*2267G>T rs886057064
NM_001352514.2(HLCS):c.*2285G>A rs886057063
NM_001352514.2(HLCS):c.*2622G>A rs14407
NM_001352514.2(HLCS):c.*2647T>A rs2089366675
NM_001352514.2(HLCS):c.*270dup rs886057074
NM_001352514.2(HLCS):c.*2952CT[1] rs886057061
NM_001352514.2(HLCS):c.*3050A>G rs2089352875
NM_001352514.2(HLCS):c.*305T>C rs2089455426
NM_001352514.2(HLCS):c.*3161G>T rs886057060
NM_001352514.2(HLCS):c.*3162T>A rs552016201
NM_001352514.2(HLCS):c.*3175A>G rs2089348881
NM_001352514.2(HLCS):c.*3226del rs35955622
NM_001352514.2(HLCS):c.*3226dup rs35955622
NM_001352514.2(HLCS):c.1223del (p.Gly408fs) rs771944310
NM_001352514.2(HLCS):c.1535G>A (p.Arg512Lys) rs747688148
NM_001352514.2(HLCS):c.1620+7del rs140568778
NM_001352514.2(HLCS):c.1977G>A (p.Val659=) rs886057075
NM_001352514.2(HLCS):c.2418C>T (p.Val806=) rs759416272
NM_001352514.2(HLCS):c.489T>G (p.Ile163Met) rs886057079
NM_001352514.2(HLCS):c.493+9C>A rs886057078
NM_001352514.2(HLCS):c.494-25TC[4] rs146532042
NM_001352514.2(HLCS):c.652G>A (p.Glu218Lys) rs2066934793
NM_001354304.2(PAH):c.-95-385_-95-382del rs147576673
NM_001358530.2(MOCS1):c.*1046A>T rs1766803869
NM_001358530.2(MOCS1):c.*1062_*1063dup rs886061382
NM_001358530.2(MOCS1):c.*1117A>C rs886061381
NM_001358530.2(MOCS1):c.*1305C>T rs7744483
NM_001358530.2(MOCS1):c.*1341T>A rs1766761624
NM_001358530.2(MOCS1):c.*1389dup rs144859841
NM_001358530.2(MOCS1):c.*1433T>A rs745650301
NM_001358530.2(MOCS1):c.*1629G>A rs3793137
NM_001358530.2(MOCS1):c.*1629G>T rs3793137
NM_001358530.2(MOCS1):c.*1660ATAG[1] rs112059918
NM_001358530.2(MOCS1):c.*1660ATAG[3] rs112059918
NM_001358530.2(MOCS1):c.*1711G>A rs886061379
NM_001358530.2(MOCS1):c.*1775_*1778dup rs112997952
NM_001358530.2(MOCS1):c.*1866_*1870dup rs370863199
NM_001358530.2(MOCS1):c.*1878G>A rs886061378
NM_001358530.2(MOCS1):c.*282T>C rs200673409
NM_001358530.2(MOCS1):c.*523TCCTG[4] rs138907488
NM_001358530.2(MOCS1):c.*739C>T rs886061385
NM_001358530.2(MOCS1):c.*759_*761dup rs543804008
NM_001358530.2(MOCS1):c.*76T>C rs1766923347
NM_001358530.2(MOCS1):c.*771_*772dup rs886061384
NM_001358530.2(MOCS1):c.*908AATC[3] rs3839624
NM_001358530.2(MOCS1):c.*908AATC[5] rs3839624
NM_001358530.2(MOCS1):c.1102+1_1102+2del rs1562086288
NM_001358530.2(MOCS1):c.1132C>G (p.Arg378Gly) rs149586823
NM_001358530.2(MOCS1):c.1212G>C (p.Pro404=) rs11969233
NM_001358530.2(MOCS1):c.1226G>A (p.Gly409Asp) rs1767003395
NM_001358530.2(MOCS1):c.124-176A>T rs1768410085
NM_001358530.2(MOCS1):c.1355G>T (p.Arg452Leu) rs11969206
NM_001358530.2(MOCS1):c.1400G>A (p.Trp467Ter) rs780148535
NM_001358530.2(MOCS1):c.152G>T (p.Arg51Leu) rs754387991
NM_001358530.2(MOCS1):c.1628C>A (p.Ala543Glu) rs886061388
NM_001358530.2(MOCS1):c.175G>T (p.Ala59Ser) rs770756364
NM_001358530.2(MOCS1):c.301C>T (p.Leu101=) rs111640560
NM_001358530.2(MOCS1):c.339C>T (p.Leu113=) rs762810343
NM_001358530.2(MOCS1):c.358G>C (p.Asp120His) rs368420298
NM_001358530.2(MOCS1):c.418+3G>A rs1378867002
NM_001358530.2(MOCS1):c.418+5G>A
NM_001358530.2(MOCS1):c.729G>A (p.Val243=) rs886061390
NM_001358530.2(MOCS1):c.868A>C (p.Lys290Gln) rs1767419049
NM_001366110.1(PAX4):c.*469TATG[3] rs66998513
NM_001366110.1(PAX4):c.*474_*477dup rs1554403669
NM_001366110.1(PAX4):c.*477_*478insATGT rs200757052
NM_001366110.1(PAX4):c.*488GC[4] rs61297182
NM_001366110.1(PAX4):c.*492_*497del rs886061966
NM_001366110.1(PAX4):c.*493_*494insGCAC rs375106423
NM_001366110.1(PAX4):c.*494AC[11] rs36159526
NM_001366110.1(PAX4):c.*494AC[13] rs36159526
NM_001366110.1(PAX4):c.*494AC[14] rs36159526
NM_001366110.1(PAX4):c.*514_*521delinsTGAT rs886061965
NM_001366110.1(PAX4):c.*518_*521delinsACACTGAT rs886061964
NM_001366110.1(PAX4):c.*667AT[1] rs59241875
NM_001366110.1(PAX4):c.*66C>T rs886061967
NM_001366110.1(PAX4):c.*722T>C rs759186282
NM_001366110.1(PAX4):c.13+175G>C rs327516
NM_001366110.1(PAX4):c.403C>G (p.Gln135Glu) rs886061969
NM_001366110.1(PAX4):c.598C>A (p.Arg200Ser) rs3824004
NM_001366110.1(PAX4):c.772-13dup rs35434068
NM_001366110.1(PAX4):c.772-3del rs35434068
NM_001366110.1(PAX4):c.904C>A (p.Pro302Thr) rs886061968
NM_001370658.1(BTD):c.1114C>T (p.Pro372Ser) rs886058116
NM_001370658.1(BTD):c.1427T>C (p.Phe476Ser) rs886058117
NM_001370658.1(BTD):c.41_44del (p.Gly14fs) rs1249246307
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile) rs587783005
NM_001482.2(GATM):c.-171T>C rs886051204
NM_001482.3(GATM):c.*104A>G rs886051201
NM_001482.3(GATM):c.*125G>A rs143689218
NM_001482.3(GATM):c.*272C>T rs1889369976
NM_001482.3(GATM):c.*28C>T rs570994409
NM_001482.3(GATM):c.*555A>G rs1889364313
NM_001482.3(GATM):c.*595C>A rs75565512
NM_001482.3(GATM):c.*734_*735insCA rs35410548
NM_001482.3(GATM):c.*759C>T rs933437799
NM_001482.3(GATM):c.*792C>A rs564624011
NM_001482.3(GATM):c.-72C>T rs886051203
NM_001482.3(GATM):c.1088T>C (p.Leu363Ser) rs753968876
NM_001482.3(GATM):c.1159G>C (p.Gly387Arg) rs886051202
NM_001482.3(GATM):c.181C>G (p.Pro61Ala) rs765462268
NM_001482.3(GATM):c.222C>T (p.Pro74=) rs774485349
NM_001608.4(ACADL):c.*621G>A rs886055550
NM_001608.4(ACADL):c.24dup (p.Ser9fs) rs764706552
NM_001608.4(ACADL):c.928_933delinsCATGAATGTTATGTTT (p.Thr310fs) rs1559636157
NM_001701.4(BAAT):c.*1030T>A rs543786788
NM_001701.4(BAAT):c.*1041A>G rs41316534
NM_001701.4(BAAT):c.*1173TA[1] rs35538457
NM_001701.4(BAAT):c.*1218A>G rs550241219
NM_001701.4(BAAT):c.*1475G>A rs10120345
NM_001701.4(BAAT):c.*1575T>G rs886063281
NM_001701.4(BAAT):c.*1864G>T rs567579333
NM_001701.4(BAAT):c.*1886T>C rs10123392
NM_001701.4(BAAT):c.*1890C>A rs886063280
NM_001701.4(BAAT):c.*224A>T rs1829737877
NM_001701.4(BAAT):c.*573G>T rs1829730357
NM_001701.4(BAAT):c.*831A>G rs1829725244
NM_001701.4(BAAT):c.*95C>T rs1829740955
NM_001701.4(BAAT):c.1135G>A (p.Asp379Asn) rs765307307
NM_001701.4(BAAT):c.22C>G (p.Pro8Ala) rs147241373
NM_001701.4(BAAT):c.264A>G (p.Leu88=) rs886063284
NM_001701.4(BAAT):c.561C>T (p.Ala187=) rs1829866957
NM_001701.4(BAAT):c.602G>C (p.Arg201Pro) rs41281027
NM_001701.4(BAAT):c.780C>T (p.Thr260=) rs886063283
NM_001715.2(BLK):c.-440G>A rs554033678
NM_001715.2(BLK):c.-475A>C rs886062589
NM_001715.3(BLK):c.*130G>T rs576749814
NM_001715.3(BLK):c.*161C>G rs886062597
NM_001715.3(BLK):c.*182del rs570307048
NM_001715.3(BLK):c.*214C>T rs1585428580
NM_001715.3(BLK):c.*271G>A rs1343284509
NM_001715.3(BLK):c.*289G>A rs886062599
NM_001715.3(BLK):c.*42A>G rs759997593
NM_001715.3(BLK):c.-9T>C rs886062594
NM_001715.3(BLK):c.1021T>G (p.Ser341Ala) rs567720261
NM_001715.3(BLK):c.1120T>G (p.Cys374Gly) rs886062595
NM_001715.3(BLK):c.1208C>T (p.Ala403Val) rs139210041
NM_001715.3(BLK):c.129C>A (p.Val43=) rs377568491
NM_001715.3(BLK):c.1374C>T (p.Asp458=) rs376977643
NM_001715.3(BLK):c.1411G>C (p.Glu471Gln) rs1171913284
NM_001715.3(BLK):c.311G>T (p.Arg104Ile) rs142298864
NM_001715.3(BLK):c.391C>A (p.Arg131=) rs73663163
NM_001715.3(BLK):c.391C>T (p.Arg131Trp) rs73663163
NM_001715.3(BLK):c.39G>A (p.Lys13=) rs142129056
NM_001715.3(BLK):c.473-7C>G rs200091252
NM_001715.3(BLK):c.617C>G (p.Ser206Cys) rs550720173
NM_001715.3(BLK):c.668C>T (p.Pro223Leu) rs202028021
NM_001715.3(BLK):c.824C>T (p.Thr275Ile) rs748444664
NM_001875.5(CPS1):c.*1040C>T rs886055562
NM_001875.5(CPS1):c.*1068G>T rs886055563
NM_001875.5(CPS1):c.*311A>G rs886055558
NM_001875.5(CPS1):c.*387C>T rs886055559
NM_001875.5(CPS1):c.*5G>A rs886055556
NM_001875.5(CPS1):c.*747A>G rs1701612032
NM_001875.5(CPS1):c.*74T>C rs886055557
NM_001875.5(CPS1):c.*777A>G rs886055561
NM_001875.5(CPS1):c.-4_-3insTTC rs61509952
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala) rs1047883
NM_001875.5(CPS1):c.1030A>T (p.Thr344Ser) rs1047883
NM_001875.5(CPS1):c.1165-12A>G rs1574566498
NM_001875.5(CPS1):c.1982-1G>C rs1559102636
NM_001875.5(CPS1):c.1982-8A>T rs563304664
NM_001875.5(CPS1):c.2186C>T (p.Ala729Val) rs1698935242
NM_001875.5(CPS1):c.2265C>A (p.Ser755=) rs41272667
NM_001875.5(CPS1):c.2265C>T (p.Ser755=) rs41272667
NM_001875.5(CPS1):c.2391G>T (p.Glu797Asp) rs1181945940
NM_001875.5(CPS1):c.2688-12A>G rs376699772
NM_001875.5(CPS1):c.2749A>G (p.Ile917Val) rs886055552
NM_001875.5(CPS1):c.2932G>T (p.Val978Leu) rs779342929
NM_001875.5(CPS1):c.2959+1del rs1559121934
NM_001875.5(CPS1):c.2982G>C (p.Trp994Cys) rs1700257191
NM_001875.5(CPS1):c.3141+15del rs577707531
NM_001875.5(CPS1):c.3313C>T (p.Pro1105Ser) rs761921978
NM_001875.5(CPS1):c.3481-7G>A rs368909569
NM_001875.5(CPS1):c.3481-7G>C rs368909569
NM_001875.5(CPS1):c.3558+8C>T rs1700638481
NM_001875.5(CPS1):c.3857A>T (p.Glu1286Val) rs886055554
NM_001875.5(CPS1):c.3874C>T (p.His1292Tyr) rs886055555
NM_001875.5(CPS1):c.945C>G (p.Asn315Lys) rs761974037
NM_001902.6(CTH):c.*336A>G rs1357205916
NM_001902.6(CTH):c.*411G>C rs1684675526
NM_001902.6(CTH):c.*522_*523insTAA rs886046514
NM_001902.6(CTH):c.*527A>T rs886046515
NM_001902.6(CTH):c.*587G>A rs886046517
NM_001902.6(CTH):c.*588C>T rs932421469
NM_001902.6(CTH):c.*98G>A rs886046512
NM_001902.6(CTH):c.-3A>G rs757363405
NM_001902.6(CTH):c.1052+1G>C rs570239863
NM_001902.6(CTH):c.1191+15TG[16] rs58815241
NM_001902.6(CTH):c.1191+15TG[17] rs58815241
NM_001902.6(CTH):c.1191+15TG[18] rs58815241
NM_001902.6(CTH):c.381A>G (p.Glu127=) rs886046511
NM_001902.6(CTH):c.710G>T (p.Arg237Leu) rs147044875
NM_001902.6(CTH):c.794G>T (p.Arg265Leu) rs200263768
NM_001918.5(DBT):c.*1064del rs553113077
NM_001918.5(DBT):c.*1064dup rs553113077
NM_001918.5(DBT):c.*1640C>T rs1660988947
NM_001918.5(DBT):c.*2021C>T rs1660952850
NM_001918.5(DBT):c.*2114T>C rs886044956
NM_001918.5(DBT):c.*2130G>A rs1394399367
NM_001918.5(DBT):c.*2213T>C rs1660939902
NM_001918.5(DBT):c.*2363G>T rs886044955
NM_001918.5(DBT):c.*2542del rs570425342
NM_001918.5(DBT):c.*2619G>A rs541064624
NM_001918.5(DBT):c.*2633AAAT[5] rs773873766
NM_001918.5(DBT):c.*2633AAAT[7] rs773873766
NM_001918.5(DBT):c.*3022G>A rs1660889107
NM_001918.5(DBT):c.*3027A>G rs886044954
NM_001918.5(DBT):c.*3201G>A rs886044951
NM_001918.5(DBT):c.*3240T>A rs1660880039
NM_001918.5(DBT):c.*3693C>G rs1660860600
NM_001918.5(DBT):c.*3859T>C rs1570793211
NM_001918.5(DBT):c.*3869del rs141830881
NM_001918.5(DBT):c.*3995G>T rs988697898
NM_001918.5(DBT):c.*4237A>C rs1660837776
NM_001918.5(DBT):c.*4281del rs886044948
NM_001918.5(DBT):c.*4321G>T rs886044947
NM_001918.5(DBT):c.*4446C>G rs752398323
NM_001918.5(DBT):c.*456C>G rs886044963
NM_001918.5(DBT):c.*4576G>A rs531886164
NM_001918.5(DBT):c.*4576G>C rs531886164
NM_001918.5(DBT):c.*4688G>T rs573460625
NM_001918.5(DBT):c.*5380G>C rs1660776922
NM_001918.5(DBT):c.*5561A>G rs886044945
NM_001918.5(DBT):c.*5959A>G rs567706972
NM_001918.5(DBT):c.*6114_*6115del rs3081711
NM_001918.5(DBT):c.*6413C>T rs1660732127
NM_001918.5(DBT):c.*64A>G rs1661077106
NM_001918.5(DBT):c.*6771A>C rs986607367
NM_001918.5(DBT):c.*6771A>G rs986607367
NM_001918.5(DBT):c.*678TTAA[1] rs886044961
NM_001918.5(DBT):c.*6903del rs71709231
NM_001918.5(DBT):c.*7223C>T rs1660695055
NM_001918.5(DBT):c.*7690T>C rs535852086
NM_001918.5(DBT):c.*7942G>A rs1660663776
NM_001918.5(DBT):c.*8471T>C rs1660634228
NM_001918.5(DBT):c.*8552_*8553insT rs886044939
NM_001918.5(DBT):c.*8554dup rs886044938
NM_001918.5(DBT):c.*8642C>G rs886044937
NM_001918.5(DBT):c.*8900A>T rs886044936
NM_001918.5(DBT):c.*9058C>T rs886044935
NM_001918.5(DBT):c.1210-10dup rs398123658
NM_001918.5(DBT):c.1282-14_1282-10del rs752915898
NM_001918.5(DBT):c.1282-5_1282-1del rs1557939353
NM_001918.5(DBT):c.1364T>C (p.Ile455Thr) rs1570796358
NM_001918.5(DBT):c.1389C>T (p.Phe463=) rs886044964
NM_001931.5(DLAT):c.396dup (p.Ala133fs) rs782173047
NM_002065.6(GLUL):c.-675_-674TC[1] rs886045621
NM_002065.6(GLUL):c.-706C>T rs60442279
NM_002065.6(GLUL):c.-718G>C rs116040694
NM_002065.6(GLUL):c.-745C>T rs886045623
NM_002108.4(HAL):c.*1161C>T rs368835467
NM_002108.4(HAL):c.*1178A>G rs886049895
NM_002108.4(HAL):c.*1283T>C rs886049894
NM_002108.4(HAL):c.*1312C>T rs1059845
NM_002108.4(HAL):c.*1359C>A rs192416544
NM_002108.4(HAL):c.*1489A>C rs886049893
NM_002108.4(HAL):c.*227A>C rs886049900
NM_002108.4(HAL):c.*405_*408dup rs71307533
NM_002108.4(HAL):c.*406_*408dup rs71307533
NM_002108.4(HAL):c.*408del rs71307533
NM_002108.4(HAL):c.*4G>A rs1455905331
NM_002108.4(HAL):c.*603A>G rs886049898
NM_002108.4(HAL):c.*673T>C rs2080679383
NM_002108.4(HAL):c.*728T>A rs886049897
NM_002108.4(HAL):c.*836C>T rs117951758
NM_002108.4(HAL):c.-216A>C rs118085647
NM_002108.4(HAL):c.-231del rs886049904
NM_002108.4(HAL):c.1163G>A (p.Cys388Tyr) rs1949881722
NM_002108.4(HAL):c.1277C>G (p.Thr426Arg) rs1565988698
NM_002108.4(HAL):c.1414G>A (p.Glu472Lys) rs147706824
NM_002108.4(HAL):c.1453T>C (p.Phe485Leu) rs886049901
NM_002108.4(HAL):c.1801G>A (p.Glu601Lys) rs377498665
NM_002108.4(HAL):c.1823T>C (p.Leu608Pro) rs2080719373
NM_002108.4(HAL):c.308+14C>T rs886049902
NM_002108.4(HAL):c.421A>G (p.Thr141Ala) rs200116994
NM_002108.4(HAL):c.475G>T (p.Glu159Ter) rs1365129216
NM_002108.4(HAL):c.590G>C (p.Gly197Ala) rs541743724
NM_002150.3(HPD):c.*190G>T rs942325148
NM_002150.3(HPD):c.*69C>T rs1592913492
NM_002150.3(HPD):c.*82T>C rs879205776
NM_002150.3(HPD):c.1061A>G (p.His354Arg) rs1877351328
NM_002150.3(HPD):c.1165G>C (p.Val389Leu) rs1404803313
NM_002150.3(HPD):c.211C>G (p.Leu71Val) rs886049037
NM_002150.3(HPD):c.518+3G>A rs1877698848
NM_002150.3(HPD):c.543C>T (p.Ile181=) rs756242095
NM_002150.3(HPD):c.92A>G (p.Gln31Arg) rs1878057534
NM_002203.4(ITGA2):c.*1764del rs3212655
NM_002203.4(ITGA2):c.*2041del rs35863692
NM_002203.4(ITGA2):c.*2505CAAA[3] rs72277253
NM_002203.4(ITGA2):c.*2570C>A rs1900182
NM_002203.4(ITGA2):c.*2570C>T rs1900182
NM_002203.4(ITGA2):c.*3385_*3386insGAAA rs59915734
NM_002203.4(ITGA2):c.*3763_*3764del rs145759303
NM_002203.4(ITGA2):c.*3813G>A rs1740598174
NM_002203.4(ITGA2):c.*4045AGT[1] rs71727762
NM_002203.4(ITGA2):c.*475_*477del rs199677547
NM_002203.4(ITGA2):c.*760_*761insTTAT rs3212652
NM_002300.7(LDHB):c.-109C>T rs886049167
NM_002300.8(LDHB):c.*73T>C rs886049163
NM_002300.8(LDHB):c.-34A>G rs1938903896
NM_002300.8(LDHB):c.-71C>G rs977721300
NM_002300.8(LDHB):c.130-3_130-2del rs200371155
NM_002300.8(LDHB):c.178A>G (p.Lys60Glu) rs1938543300
NM_002300.8(LDHB):c.210C>A (p.Ser70Arg) rs1938542112
NM_002300.8(LDHB):c.528T>A (p.Ala176=) rs886049164
NM_002300.8(LDHB):c.843G>A (p.Met281Ile) rs150060988
NM_002300.8(LDHB):c.946C>T (p.Gln316Ter) rs1565623986
NM_002500.4(NEUROD1):c.*1486A>G rs1688569851
NM_002500.5(NEUROD1):c.*1125T>G rs1688578868
NM_002500.5(NEUROD1):c.*463del rs886055325
NM_002500.5(NEUROD1):c.*608T>C rs1688595150
NM_002500.5(NEUROD1):c.*617C>T rs886055323
NM_002500.5(NEUROD1):c.*640_*641dup rs886055322
NM_002500.5(NEUROD1):c.*642_*643del rs886055321
NM_002500.5(NEUROD1):c.*674_*677dup rs374172497
NM_002500.5(NEUROD1):c.*676_*677dup rs374172497
NM_002500.5(NEUROD1):c.*677dup rs374172497
NM_002500.5(NEUROD1):c.*75G>T rs1688606060
NM_002500.5(NEUROD1):c.*773A>C rs886055319
NM_002500.5(NEUROD1):c.*795T>C rs946367001
NM_002500.5(NEUROD1):c.*819C>G rs1688587199
NM_002500.5(NEUROD1):c.*859C>A rs752652027
NM_002500.5(NEUROD1):c.129C>A (p.Leu43=) rs116321775
NM_002500.5(NEUROD1):c.129C>G (p.Leu43=) rs116321775
NM_002500.5(NEUROD1):c.311T>G (p.Met104Arg) rs376752352
NM_002500.5(NEUROD1):c.793A>C (p.Thr265Pro) rs761826783
NM_002500.5(NEUROD1):c.908A>G (p.Tyr303Cys) rs886055327
NM_002500.5(NEUROD1):c.944G>C (p.Gly315Ala) rs1559135056
NM_002860.4(ALDH18A1):c.*202T>C rs886047509
NM_002860.4(ALDH18A1):c.*466T>G rs886047508
NM_002860.4(ALDH18A1):c.*644A>G rs1052895099
NM_002860.4(ALDH18A1):c.-120A>G rs181772739
NM_002860.4(ALDH18A1):c.-67C>T rs886047514
NM_002860.4(ALDH18A1):c.1169A>G (p.His390Arg) rs2097858992
NM_002860.4(ALDH18A1):c.1385A>G (p.Lys462Arg) rs886047511
NM_002860.4(ALDH18A1):c.1605+5G>A rs886047510
NM_002860.4(ALDH18A1):c.1740C>G (p.Ser580Arg) rs139035272
NM_002860.4(ALDH18A1):c.1740C>T (p.Ser580=) rs139035272
NM_002860.4(ALDH18A1):c.1788G>T (p.Lys596Asn) rs764910330
NM_002860.4(ALDH18A1):c.2135A>G (p.Gln712Arg) rs2097831329
NM_002860.4(ALDH18A1):c.264T>C (p.Cys88=) rs537733180
NM_002860.4(ALDH18A1):c.727G>C (p.Val243Leu) rs864321669
NM_002860.4(ALDH18A1):c.819C>T (p.Asp273=) rs752470665
NM_003060.4(SLC22A5):c.*1020C>G rs886059915
NM_003060.4(SLC22A5):c.*1142C>T rs62385689
NM_003060.4(SLC22A5):c.*17G>A rs773583158
NM_003060.4(SLC22A5):c.*195G>T rs886059910
NM_003060.4(SLC22A5):c.*196A>T rs557809028
NM_003060.4(SLC22A5):c.*417T>A rs886059911
NM_003060.4(SLC22A5):c.*424T>C rs886059912
NM_003060.4(SLC22A5):c.*654G>C rs886059913
NM_003060.4(SLC22A5):c.*678G>T rs148673968
NM_003060.4(SLC22A5):c.*705A>G rs974114194
NM_003060.4(SLC22A5):c.*92del rs142209594
NM_003060.4(SLC22A5):c.*956_*957insTA rs746348980
NM_003060.4(SLC22A5):c.*957A>T rs200950736
NM_003060.4(SLC22A5):c.*960dup rs869272980
NM_003060.4(SLC22A5):c.-206A>C rs1751805896
NM_003060.4(SLC22A5):c.-231G>C rs1751803560
NM_003060.4(SLC22A5):c.-25C>T rs886059907
NM_003060.4(SLC22A5):c.1120G>A (p.Val374Met) rs886059909
NM_003060.4(SLC22A5):c.1225C>G (p.Leu409Val) rs573330330
NM_003060.4(SLC22A5):c.1412G>A (p.Arg471His) rs386134223
NM_003060.4(SLC22A5):c.1436A>G (p.Tyr479Cys) rs977041272
NM_003060.4(SLC22A5):c.412G>A (p.Asp138Asn) rs534336326
NM_003060.4(SLC22A5):c.652+6= rs4551059
NM_003060.4(SLC22A5):c.760C>A (p.Arg254=) rs121908893
NM_003060.4(SLC22A5):c.980A>C (p.Gln327Pro) rs886059908
NM_003124.5(SPR):c.*233G>A rs1670625602
NM_003124.5(SPR):c.*377G>A rs912605707
NM_003124.5(SPR):c.*597C>A rs886056291
NM_003124.5(SPR):c.120C>T (p.Ser40=) rs1450742178
NM_003124.5(SPR):c.477T>C (p.Cys159=) rs1670575187
NM_003124.5(SPR):c.556C>G (p.Leu186Val) rs1670577308
NM_003124.5(SPR):c.595+7G>A rs1670578079
NM_003124.5(SPR):c.596-4C>G rs775183662
NM_003124.5(SPR):c.87G>C (p.Ser29=) rs886056287
NM_003477.2(PDHX):c.-129_-127delCGG rs371074122
NM_003477.2(PDHX):c.-208C>T rs555380381
NM_003477.2(PDHX):c.-271G>T rs780153979
NM_003477.2(PDHX):c.-319G>A rs2956113
NM_003477.2(PDHX):c.-358G>A rs886048245
NM_003477.2(PDHX):c.-485G>C rs988171497
NM_003477.2(PDHX):c.-506T>C rs2016814
NM_003477.2(PDHX):c.-519C>A rs561463212
NM_003477.3(PDHX):c.*662A>T rs1855847638
NM_003477.3(PDHX):c.*783G>T rs751318367
NM_003477.3(PDHX):c.*821A>T rs1020596537
NM_003477.3(PDHX):c.*874A>G rs1855851456
NM_003477.3(PDHX):c.*904G>T rs182283782
NM_003477.3(PDHX):c.-27C>T rs529801753
NM_003477.3(PDHX):c.35G>A (p.Arg12Gln) rs200419151
NM_003477.3(PDHX):c.403G>T (p.Gly135Ter) rs769476738
NM_003477.3(PDHX):c.585C>G (p.His195Gln) rs886048247
NM_003477.3(PDHX):c.702T>C (p.Thr234=) rs772231144
NM_003477.3(PDHX):c.841A>G (p.Ser281Gly) rs886048248
NM_003477.3(PDHX):c.940A>G (p.Lys314Glu) rs1855230194
NM_003597.5(KLF11):c.*122C>T rs576978858
NM_003597.5(KLF11):c.*1296T>C rs886054730
NM_003597.5(KLF11):c.*1423T>C rs571234569
NM_003597.5(KLF11):c.*1495G>A rs886054733
NM_003597.5(KLF11):c.*1612C>G rs886054734
NM_003597.5(KLF11):c.*1894A>G rs557209557
NM_003597.5(KLF11):c.*226_*227dup rs34206941
NM_003597.5(KLF11):c.*227dup rs34206941
NM_003597.5(KLF11):c.*319C>T rs777727299
NM_003597.5(KLF11):c.*457A>T rs920552860
NM_003597.5(KLF11):c.*96dup rs886054725
NM_003597.5(KLF11):c.-95GCC[5] rs372827624
NM_003597.5(KLF11):c.-95GCC[7] rs372827624
NM_003597.5(KLF11):c.1057C>A (p.Pro353Thr) rs886054724
NM_003597.5(KLF11):c.1396A>G (p.Ser466Gly) rs757875185
NM_003597.5(KLF11):c.351A>G (p.Pro117=) rs781433096
NM_003597.5(KLF11):c.644A>G (p.Gln215Arg) rs1347317649
NM_003597.5(KLF11):c.870C>T (p.Ile290=) rs149235463
NM_003597.5(KLF11):c.926T>C (p.Leu309Ser) rs1661291203
NM_003664.4(AP3B1):c.-126C>G rs760008097
NM_003664.5(AP3B1):c.*191C>G rs6864605
NM_003664.5(AP3B1):c.*380G>A rs911081557
NM_003664.5(AP3B1):c.*380G>C rs911081557
NM_003664.5(AP3B1):c.*552TAAA[1] rs886060767
NM_003664.5(AP3B1):c.*69dup rs886060769
NM_003664.5(AP3B1):c.-115G>A rs886060776
NM_003664.5(AP3B1):c.-83G>C rs774869942
NM_003664.5(AP3B1):c.1129G>A (p.Val377Ile) rs757985695
NM_003664.5(AP3B1):c.1190C>T (p.Ala397Val) rs1743584840
NM_003664.5(AP3B1):c.1281T>C (p.Thr427=) rs954170484
NM_003664.5(AP3B1):c.1392T>G (p.Val464=) rs886060774
NM_003664.5(AP3B1):c.1836A>T (p.Lys612Asn) rs1752586022
NM_003664.5(AP3B1):c.1984C>G (p.Pro662Ala) rs749489841
NM_003664.5(AP3B1):c.2012C>T (p.Ser671Phe) rs886060773
NM_003664.5(AP3B1):c.2093G>A (p.Ser698Asn) rs886060772
NM_003664.5(AP3B1):c.2341G>A (p.Asp781Asn) rs532221135
NM_003664.5(AP3B1):c.2405A>G (p.Glu802Gly) rs886060771
NM_003664.5(AP3B1):c.2409_2411del (p.Lys804del) rs199702315
NM_003664.5(AP3B1):c.2769A>C (p.Lys923Asn) rs201179527
NM_003664.5(AP3B1):c.280-6dup rs5868908
NM_003664.5(AP3B1):c.2812T>C (p.Ser938Pro) rs1002296977
NM_003664.5(AP3B1):c.2906A>G (p.Asp969Gly) rs886060770
NM_003664.5(AP3B1):c.3020CTG[1] (p.Ala1008del) rs111935323
NM_003664.5(AP3B1):c.325C>A (p.Gln109Lys) rs1397315776
NM_003664.5(AP3B1):c.720G>A (p.Gly240=) rs886060775
NM_003664.5(AP3B1):c.786+6T>A rs1332793203
NM_003664.5(AP3B1):c.905G>A (p.Arg302Lys) rs1744368521
NM_003664.5(AP3B1):c.976A>G (p.Ile326Val) rs758789954
NM_003748.3(ALDH4A1):c.-174dup rs551988232
NM_003748.4(ALDH4A1):c.*12del rs774289867
NM_003748.4(ALDH4A1):c.*210C>A rs886045705
NM_003748.4(ALDH4A1):c.*657del rs11311839
NM_003748.4(ALDH4A1):c.*776C>T rs1034579513
NM_003748.4(ALDH4A1):c.1086G>A (p.Pro362=) rs41310410
NM_003748.4(ALDH4A1):c.1086G>C (p.Pro362=) rs41310410
NM_003748.4(ALDH4A1):c.1099C>T (p.Arg367Trp) rs562344368
NM_003748.4(ALDH4A1):c.1196G>A (p.Arg399His) rs749555399
NM_003748.4(ALDH4A1):c.1212G>A (p.Leu404=) rs1934687903
NM_003748.4(ALDH4A1):c.1460+15C>T rs371777923
NM_003748.4(ALDH4A1):c.1571G>A (p.Arg524Gln)
NM_003748.4(ALDH4A1):c.1624A>G (p.Thr542Ala) rs1934507704
NM_003748.4(ALDH4A1):c.1678G>A (p.Ala560Thr) rs776207072
NM_003748.4(ALDH4A1):c.1681T>A (p.Tyr561Asn) rs528211463
NM_003748.4(ALDH4A1):c.198C>T (p.Cys66=) rs1469638231
NM_003748.4(ALDH4A1):c.250-6T>A rs1935208824
NM_003748.4(ALDH4A1):c.397G>T (p.Asp133Tyr) rs1935164061
NM_003748.4(ALDH4A1):c.446T>A (p.Val149Glu) rs886045706
NM_003748.4(ALDH4A1):c.800C>A (p.Pro267His) rs141843191
NM_003748.4(ALDH4A1):c.866+1G>A rs78532707
NM_004453.3(ETFDH):c.-174A>G rs886059193
NM_004453.4(ETFDH):c.*67T>G rs1774708906
NM_004453.4(ETFDH):c.1116+2T>C rs1561247874
NM_004453.4(ETFDH):c.1116+7C>T rs748640706
NM_004453.4(ETFDH):c.1117-11T>C rs917132143
NM_004453.4(ETFDH):c.272C>A (p.Ala91Asp) rs1773880547
NM_004453.4(ETFDH):c.444A>C (p.Gly148=) rs1773954457
NM_004453.4(ETFDH):c.63T>C (p.Ile21=) rs566605780
NM_004531.5(MOCS2):c.*1167G>A rs549157684
NM_004531.5(MOCS2):c.*1544C>A rs16880873
NM_004531.5(MOCS2):c.*1545G>A rs567430116
NM_004531.5(MOCS2):c.*1918A>G rs1740744067
NM_004531.5(MOCS2):c.*2900A>G rs116368818
NM_004531.5(MOCS2):c.*44A>C rs367775935
NM_004531.5(MOCS2):c.*518C>T rs1740795184
NM_004531.5(MOCS2):c.*673A>T rs570413748
NM_004531.5(MOCS2):c.-664C>A rs764809636
NM_004531.5(MOCS2):c.346_349del (p.Val116fs) rs398122798
NM_004531.5(MOCS2):c.99-8_99-5del rs779872271
NM_004577.3(PSPH):c.-681A>C rs886062396
NM_004577.3(PSPH):c.-708C>G rs187219685
NM_004577.4(PSPH):c.*157C>T rs1181829048
NM_004577.4(PSPH):c.*203T>C rs997839370
NM_004577.4(PSPH):c.*233dup rs34727399
NM_004577.4(PSPH):c.*46A>C rs1787928354
NM_004577.4(PSPH):c.-19-13dup rs368626187
NM_004577.4(PSPH):c.-19-4G>A rs200942360
NM_004577.4(PSPH):c.-228C>G rs886062391
NM_004577.4(PSPH):c.-22A>G rs1791057401
NM_004577.4(PSPH):c.-235_-213delinsC rs886062390
NM_004577.4(PSPH):c.-333C>T rs886062392
NM_004577.4(PSPH):c.-396C>G rs1489692450
NM_004577.4(PSPH):c.-430T>G rs886062393
NM_004577.4(PSPH):c.-519C>G rs886062395
NM_004577.4(PSPH):c.-94G>A rs1440086288
NM_004577.4(PSPH):c.117C>T (p.Gly39=) rs199851385
NM_004577.4(PSPH):c.120T>A (p.Val40=) rs202027697
NM_004577.4(PSPH):c.189A>G (p.Thr63=) rs201935398
NM_004577.4(PSPH):c.194G>A (p.Arg65His) rs200442078
NM_004577.4(PSPH):c.203T>C (p.Leu68Pro) rs78067484
NM_004577.4(PSPH):c.204C>A (p.Leu68=) rs201644817
NM_004577.4(PSPH):c.249A>C (p.Gln83His) rs73343757
NM_004577.4(PSPH):c.81A>T (p.Arg27Ser) rs74445297
NM_004577.4(PSPH):c.95A>G (p.Asp32Gly) rs78599516
NM_005271.5(GLUD1):c.*1139T>C rs1845608491
NM_005271.5(GLUD1):c.*1211T>C rs1845605578
NM_005271.5(GLUD1):c.*1252T>C rs886047371
NM_005271.5(GLUD1):c.*1515A>G rs1845594094
NM_005271.5(GLUD1):c.*1545C>T rs886047367
NM_005271.5(GLUD1):c.*205A>G rs886047373
NM_005271.5(GLUD1):c.*355T>G rs569595849
NM_005271.5(GLUD1):c.*64T>C rs760101776
NM_005271.5(GLUD1):c.*64T>G rs760101776
NM_005271.5(GLUD1):c.*868A>C rs1430742705
NM_005271.5(GLUD1):c.-44C>T rs886047379
NM_005271.5(GLUD1):c.1279-3T>C rs1845868081
NM_005271.5(GLUD1):c.1493C>T (p.Ser498Leu) rs121909731
NM_005271.5(GLUD1):c.1557+12G>A rs201872390
NM_005271.5(GLUD1):c.546T>C (p.Ala182=) rs886047378
NM_005271.5(GLUD1):c.677T>G (p.Met226Arg) rs886047377
NM_005271.5(GLUD1):c.919C>T (p.Gln307Ter) rs886047375
NM_005327.4(HADH):c.-195A>C rs886058979
NM_005327.4(HADH):c.-195A>G rs886058979
NM_005327.4(HADH):c.-56C>A rs770197760
NM_005327.7(HADH):c.*661dup rs886058981
NM_005327.7(HADH):c.132+6C>G rs772843585
NM_005327.7(HADH):c.21G>A (p.Gln7=) rs886058980
NM_005327.7(HADH):c.264C>T (p.Ala88=) rs201324954
NM_005327.7(HADH):c.291G>T (p.Leu97=) rs552317372
NM_005327.7(HADH):c.688G>A (p.Ala230Thr) rs780574282
NM_005327.7(HADH):c.825T>G (p.Asp275Glu) rs1736344235
NM_005334.3(HCFC1):c.1355C>T (p.Ala452Val) rs868948937
NM_005518.4(HMGCS2):c.*139C>A rs965967252
NM_005518.4(HMGCS2):c.*155C>T rs587686291
NM_005518.4(HMGCS2):c.*6-11_*6-8del rs757178898
NM_005518.4(HMGCS2):c.*792G>A rs41313276
NM_005518.4(HMGCS2):c.621C>T (p.Pro207=) rs886045207
NM_005518.4(HMGCS2):c.704T>C (p.Met235Thr) rs773806829
NM_005518.4(HMGCS2):c.862C>A (p.Arg288=) rs142637231
NM_005566.3(LDHA):c.-152dup rs371317664
NM_005566.4(LDHA):c.*18T>C rs1866725270
NM_005566.4(LDHA):c.*48C>T rs1866727073
NM_005566.4(LDHA):c.*501C>A rs886048090
NM_005566.4(LDHA):c.*52G>T rs1866727649
NM_005566.4(LDHA):c.*586A>G rs886048091
NM_005566.4(LDHA):c.*694C>T rs1866763337
NM_005566.4(LDHA):c.126+3_126+6del rs776715682
NM_005566.4(LDHA):c.538G>T (p.Val180Phe) rs200586792
NM_005566.4(LDHA):c.675del (p.Glu225fs) rs751851558
NM_005566.4(LDHA):c.984G>A (p.Lys328=) rs1866722699
NM_005589.4(ALDH6A1):c.*1016G>A rs139735554
NM_005589.4(ALDH6A1):c.*1386A>G rs2060286462
NM_005589.4(ALDH6A1):c.*1427A>G rs2060285999
NM_005589.4(ALDH6A1):c.*1938A>G rs72725924
NM_005589.4(ALDH6A1):c.*1963C>T rs185004947
NM_005589.4(ALDH6A1):c.*2261T>C rs2060267487
NM_005589.4(ALDH6A1):c.*2422C>A rs945573017
NM_005589.4(ALDH6A1):c.*309G>A rs150950908
NM_005589.4(ALDH6A1):c.*403T>C rs1135885
NM_005589.4(ALDH6A1):c.*403T>G rs1135885
NM_005589.4(ALDH6A1):c.*43C>G rs545399557
NM_005589.4(ALDH6A1):c.*599C>G rs113031892
NM_005589.4(ALDH6A1):c.*97T>C rs2060316331
NM_005589.4(ALDH6A1):c.-59A>C rs886050733
NM_005589.4(ALDH6A1):c.-7G>A rs749971767
NM_005589.4(ALDH6A1):c.112-14T>G rs886050732
NM_005589.4(ALDH6A1):c.112-1G>A rs1566834093
NM_005589.4(ALDH6A1):c.112-31GTTT[5] rs370924173
NM_005589.4(ALDH6A1):c.112-31GTTT[7] rs370924173
NM_005589.4(ALDH6A1):c.1397T>C (p.Val466Ala) rs764356053
NM_005589.4(ALDH6A1):c.1479A>G (p.Gly493=) rs886050730
NM_005589.4(ALDH6A1):c.1551AGA[2] (p.Glu519del) rs771596943
NM_005589.4(ALDH6A1):c.189C>T (p.Ala63=) rs886050731
NM_005589.4(ALDH6A1):c.411T>C (p.Asp137=) rs750775712
NM_005589.4(ALDH6A1):c.748G>T (p.Asp250Tyr) rs761850051
NM_005589.4(ALDH6A1):c.759C>T (p.Asp253=) rs375211888
NM_005589.4(ALDH6A1):c.853-11dup rs528185481
NM_005589.4(ALDH6A1):c.856G>T (p.Ala286Ser) rs1328953759
NM_005589.4(ALDH6A1):c.874_877dup (p.Met293fs) rs751748364
NM_005629.4(SLC6A8):c.407C>G (p.Ala136Gly)
NM_006623.3(PHGDH):c.-101G>C rs562038
NM_006623.4(PHGDH):c.*58G>C rs1652337689
NM_006623.4(PHGDH):c.*8G>A rs1652335587
NM_006623.4(PHGDH):c.-11C>T rs886045203
NM_006623.4(PHGDH):c.1078+10G>T rs374994783
NM_006623.4(PHGDH):c.1158G>A (p.Ala386=) rs144484007
NM_006623.4(PHGDH):c.138G>A (p.Gln46=) rs143217390
NM_006623.4(PHGDH):c.381G>A (p.Ser127=) rs886045205
NM_006623.4(PHGDH):c.476A>G (p.Glu159Gly) rs756996899
NM_006623.4(PHGDH):c.507G>A (p.Met169Ile) rs1651465371
NM_006623.4(PHGDH):c.511-13T>G rs1571009081
NM_006623.4(PHGDH):c.519G>A (p.Gly173=) rs754326499
NM_006623.4(PHGDH):c.543G>A (p.Glu181=) rs886045206
NM_006623.4(PHGDH):c.808C>T (p.Arg270Trp) rs765756881
NM_006721.4(ADK):c.*157G>A rs886047237
NM_006721.4(ADK):c.441C>T (p.Asp147=) rs886047236
NM_006721.4(ADK):c.494A>C (p.Lys165Thr) rs1219524919
NM_006721.4(ADK):c.66-23967G>T rs1842356778
NM_006721.4(ADK):c.66-24083G>C rs886047233
NM_006721.4(ADK):c.66-24133G>A rs1036870011
NM_006721.4(ADK):c.66-24151A>T rs886047232
NM_012388.4(BLOC1S6):c.*274TG[1] rs766946085
NM_012388.4(BLOC1S6):c.*2818ACAA[4] rs376870196
NM_012388.4(BLOC1S6):c.*2818ACAA[6] rs376870196
NM_012463.4(ATP6V0A2):c.*1620T>A rs189881056
NM_012463.4(ATP6V0A2):c.*1950G>A rs1956794312
NM_012463.4(ATP6V0A2):c.*2161C>G rs886049071
NM_012463.4(ATP6V0A2):c.*2353G>T rs74386589
NM_012463.4(ATP6V0A2):c.*2771A>G rs1026356999
NM_012463.4(ATP6V0A2):c.*2782C>A rs183280767
NM_012463.4(ATP6V0A2):c.*3167G>A rs112529654
NM_012463.4(ATP6V0A2):c.*3368T>G rs1956822109
NM_012463.4(ATP6V0A2):c.*564T>C rs886049066
NM_012463.4(ATP6V0A2):c.*63C>T rs576086591
NM_012463.4(ATP6V0A2):c.-170C>A rs540324717
NM_012463.4(ATP6V0A2):c.1430A>G (p.Asn477Ser) rs532258057
NM_012463.4(ATP6V0A2):c.1820A>G (p.Tyr607Cys) rs886049061
NM_012463.4(ATP6V0A2):c.2273C>T (p.Ala758Val) rs886049062
NM_012463.4(ATP6V0A2):c.2412C>T (p.Ile804=) rs1414004996
NM_012463.4(ATP6V0A2):c.264G>A (p.Ala88=) rs139785866
NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=) rs139785866
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu) rs143509747
NM_012463.4(ATP6V0A2):c.786C>G (p.Ile262Met) rs1956545181
NM_012463.4(ATP6V0A2):c.826-5C>T rs1593903077
NM_012463.4(ATP6V0A2):c.89G>A (p.Gly30Asp) rs1956303931
NM_014049.5(ACAD9):c.*223GA[4] rs146518015
NM_014049.5(ACAD9):c.-65GT[4] rs397874507
NM_014049.5(ACAD9):c.-65GT[6] rs397874507
NM_014049.5(ACAD9):c.106G>C (p.Val36Leu) rs780117832
NM_014049.5(ACAD9):c.1191G>A (p.Ala397=) rs774763527
NM_014049.5(ACAD9):c.1330G>A (p.Ala444Thr) rs753310622
NM_014049.5(ACAD9):c.1331C>T (p.Ala444Val) rs549861940
NM_014049.5(ACAD9):c.1675C>A (p.Arg559Ser) rs138871762
NM_014049.5(ACAD9):c.1765+13T>C rs764208038
NM_014049.5(ACAD9):c.359del (p.Phe120fs) rs863224844
NM_014049.5(ACAD9):c.366C>T (p.Asn122=) rs1935539638
NM_014049.5(ACAD9):c.383T>G (p.Leu128Arg) rs1935540267
NM_014049.5(ACAD9):c.41C>T (p.Ala14Val) rs886057954
NM_014049.5(ACAD9):c.976G>C (p.Ala326Pro) rs115532916
NM_014251.3(SLC25A13):c.*330G>T rs886062525
NM_014251.3(SLC25A13):c.*40C>T rs542828845
NM_014251.3(SLC25A13):c.*507T>C rs886062524
NM_014251.3(SLC25A13):c.-107G>A rs886062531
NM_014251.3(SLC25A13):c.-10G>A rs886062530
NM_014251.3(SLC25A13):c.-97CCG[6] rs759638459
NM_014251.3(SLC25A13):c.-99C>A rs972820304
NM_014251.3(SLC25A13):c.1177+5G>A rs886062527
NM_014251.3(SLC25A13):c.1312-12del rs771217878
NM_014251.3(SLC25A13):c.1313C>T (p.Ala438Val) rs886062526
NM_014251.3(SLC25A13):c.1797T>A (p.Thr599=) rs757177279
NM_014251.3(SLC25A13):c.1916del (p.Gly639fs) rs1562773708
NM_014251.3(SLC25A13):c.508C>T (p.Arg170Trp) rs111674765
NM_014251.3(SLC25A13):c.633A>C (p.Thr211=) rs1794836188
NM_014251.3(SLC25A13):c.701G>C (p.Arg234Thr) rs986941373
NM_014251.3(SLC25A13):c.711T>C (p.Tyr237=) rs886062529
NM_014251.3(SLC25A13):c.848+10del rs886062528
NM_014251.3(SLC25A13):c.852_855del (p.Met285fs) rs80338720
NM_014252.3(SLC25A15):c.-273C>G rs541415883
NM_014252.4(SLC25A15):c.*1485T>A rs886050244
NM_014252.4(SLC25A15):c.*1737G>A rs574269155
NM_014252.4(SLC25A15):c.*1788C>T rs1882447087
NM_014252.4(SLC25A15):c.*1801G>A rs536912632
NM_014252.4(SLC25A15):c.*1829AAAAG[2] rs201178711
NM_014252.4(SLC25A15):c.*189A>C rs147308374
NM_014252.4(SLC25A15):c.*1974A>G rs1882457845
NM_014252.4(SLC25A15):c.*2279G>C rs962015601
NM_014252.4(SLC25A15):c.*2438G>A rs181523869
NM_014252.4(SLC25A15):c.*2451T>C rs1882481102
NM_014252.4(SLC25A15):c.*2563G>T rs574652330
NM_014252.4(SLC25A15):c.*2631G>A rs1882489563
NM_014252.4(SLC25A15):c.*2771A>G rs1882495767
NM_014252.4(SLC25A15):c.*490T>G rs1393402824
NM_014252.4(SLC25A15):c.*548G>A rs1882388715
NM_014252.4(SLC25A15):c.*748G>A rs1593297068
NM_014252.4(SLC25A15):c.-120C>G rs1881409086
NM_014252.4(SLC25A15):c.343T>G (p.Phe115Val) rs886050240
NM_014252.4(SLC25A15):c.411G>T (p.Met137Ile) rs1882125551
NM_014252.4(SLC25A15):c.45G>A (p.Ala15=) rs200958757
NM_014252.4(SLC25A15):c.552T>C (p.Tyr184=) rs374352017
NM_014252.4(SLC25A15):c.565G>A (p.Gly189Ser) rs151239794
NM_015506.3(MMACHC):c.658_660del (p.Lys220del) rs398124296
NM_015702.3(MMADHC):c.-136G>C rs1682898571
NM_015702.3(MMADHC):c.-145A>G rs12477482
NM_015702.3(MMADHC):c.-52-3C>G rs886054922
NM_015702.3(MMADHC):c.-62G>A rs886054924
NM_015702.3(MMADHC):c.10-3T>C rs886054921
NM_015702.3(MMADHC):c.166G>A (p.Val56Met) rs1682767724
NM_015702.3(MMADHC):c.699T>C (p.Phe233=) rs1682618008
NM_015702.3(MMADHC):c.735T>G (p.Thr245=) rs530553915
NM_015702.3(MMADHC):c.73G>T (p.Val25Phe) rs549522925
NM_015702.3(MMADHC):c.759A>T (p.Gly253=) rs886054920
NM_016180.4(SLC45A2):c.*29C>G rs886060518
NM_016180.5(SLC45A2):c.-12C>T rs1356089204
NM_016180.5(SLC45A2):c.-30G>T rs1753197383
NM_016180.5(SLC45A2):c.1076_1077del (p.Glu359fs) rs753485165
NM_016180.5(SLC45A2):c.1266C>G (p.Tyr422Ter)
NM_016180.5(SLC45A2):c.141C>T (p.Phe47=) rs1753184180
NM_016180.5(SLC45A2):c.1519G>C (p.Val507Leu) rs3733808
NM_016180.5(SLC45A2):c.1567_1574dup (p.Phe525fs) rs780732891
NM_016180.5(SLC45A2):c.178C>T (p.Leu60=) rs1396003152
NM_016180.5(SLC45A2):c.232C>A (p.Pro78Thr) rs886060520
NM_016180.5(SLC45A2):c.287G>C (p.Arg96Pro) rs753327799
NM_016180.5(SLC45A2):c.324C>G (p.Thr108=) rs1753169862
NM_016180.5(SLC45A2):c.773C>T (p.Pro258Leu) rs1752520465
NM_016180.5(SLC45A2):c.834C>T (p.Tyr278=) rs116887602
NM_016180.5(SLC45A2):c.986C>T (p.Thr329Ile) rs140158799
NM_018368.4(LMBRD1):c.*220G>T rs1765534415
NM_018368.4(LMBRD1):c.*77G>T rs886061690
NM_018368.4(LMBRD1):c.-57T>C rs886061693
NM_018368.4(LMBRD1):c.-88C>G rs557851763
NM_018368.4(LMBRD1):c.100C>G (p.Arg34Gly) rs773844453
NM_018368.4(LMBRD1):c.160C>G (p.Leu54Val) rs1402538766
NM_018368.4(LMBRD1):c.1611C>G (p.Val537=) rs534280770
NM_018368.4(LMBRD1):c.582A>G (p.Ser194=) rs1387756161
NM_018368.4(LMBRD1):c.981-14G>T rs1324981458
NM_018444.4(PDP1):c.*1661del rs60316663
NM_018444.4(PDP1):c.*724del rs886063179
NM_018444.4(PDP1):c.*898CTT[1] rs756226872
NM_020166.5(MCCC1):c.1339G>T (p.Ala447Ser) rs546480708
NM_020166.5(MCCC1):c.1724G>A (p.Ser575Asn) rs886058206
NM_020166.5(MCCC1):c.197G>A (p.Arg66His) rs569042803
NM_020166.5(MCCC1):c.231G>A (p.Ala77=) rs144230304
NM_020166.5(MCCC1):c.640_641delGG rs886058209
NM_020166.5(MCCC1):c.768A>G (p.Val256=) rs567236851
NM_020686.5(ABAT):c.-150C>A rs886052387
NM_020686.6(ABAT):c.*1051C>T rs1275277312
NM_020686.6(ABAT):c.*1133G>A rs77110218
NM_020686.6(ABAT):c.*1193G>T rs755959210
NM_020686.6(ABAT):c.*1483G>T rs139932869
NM_020686.6(ABAT):c.*1515_*1516dup rs756127537
NM_020686.6(ABAT):c.*1516del rs756127537
NM_020686.6(ABAT):c.*1593T>A rs1061842
NM_020686.6(ABAT):c.*1593T>C rs1061842
NM_020686.6(ABAT):c.*165A>T rs55638039
NM_020686.6(ABAT):c.*1698C>G rs2060477590
NM_020686.6(ABAT):c.*1765TTCA[2] rs148513949
NM_020686.6(ABAT):c.*1965C>T rs553329538
NM_020686.6(ABAT):c.*1976C>A rs886052443
NM_020686.6(ABAT):c.*1988C>T rs886052444
NM_020686.6(ABAT):c.*2059C>A rs2060484570
NM_020686.6(ABAT):c.*2308A>G rs1039454012
NM_020686.6(ABAT):c.*242G>T rs2270288
NM_020686.6(ABAT):c.*259G>A rs886052433
NM_020686.6(ABAT):c.*2698C>G rs922229332
NM_020686.6(ABAT):c.*3039del rs766850207
NM_020686.6(ABAT):c.*3110_*3113del rs147433667
NM_020686.6(ABAT):c.*316A>C rs1596475891
NM_020686.6(ABAT):c.*426C>T rs2060446680
NM_020686.6(ABAT):c.*430C>T rs886052434
NM_020686.6(ABAT):c.*578G>A rs2060450686
NM_020686.6(ABAT):c.1123-14G>A rs758870080
NM_020686.6(ABAT):c.1140C>T (p.Asn380=) rs770156912
NM_020686.6(ABAT):c.1270G>A (p.Ala424Thr) rs886052432
NM_020686.6(ABAT):c.1389G>A (p.Val463=) rs2060432508
NM_020686.6(ABAT):c.317-5C>G rs781499078
NM_020686.6(ABAT):c.540+14CA[12] rs35745596
NM_020686.6(ABAT):c.540+14CA[13] rs35745596
NM_020686.6(ABAT):c.540+14CA[14] rs35745596
NM_020686.6(ABAT):c.645C>A (p.Gly215=) rs1139522
NM_020686.6(ABAT):c.667+7_667+8dup rs748783252
NM_020686.6(ABAT):c.957T>G (p.His319Gln) rs886052431
NM_022081.5(HPS4):c.-634C>T rs886057325
NM_022081.6(HPS4):c.*1024_*1028del rs886057313
NM_022081.6(HPS4):c.*1120C>T rs886057312
NM_022081.6(HPS4):c.*1191TG[16] rs134978
NM_022081.6(HPS4):c.*1191TG[17] rs134978
NM_022081.6(HPS4):c.*1191TG[20] rs134978
NM_022081.6(HPS4):c.*1207_*1227delinsC rs886057310
NM_022081.6(HPS4):c.*1207_*1227delinsCGC rs886057310
NM_022081.6(HPS4):c.*1223_*1238del rs886057303
NM_022081.6(HPS4):c.*1227_*1236del rs755364858
NM_022081.6(HPS4):c.*1229CG[4] rs10573454
NM_022081.6(HPS4):c.*1229CG[5] rs10573454
NM_022081.6(HPS4):c.*1229CG[6] rs10573454
NM_022081.6(HPS4):c.*1229CG[7] rs10573454
NM_022081.6(HPS4):c.*1229CG[8] rs10573454
NM_022081.6(HPS4):c.*1229_*1237delinsTGT rs886057304
NM_022081.6(HPS4):c.*1229_*1237delinsTGTGT rs886057304
NM_022081.6(HPS4):c.*1236_*1237insTAA rs1555885488
NM_022081.6(HPS4):c.*1752C>G rs886057295
NM_022081.6(HPS4):c.*333C>T rs2085445155
NM_022081.6(HPS4):c.*515G>C rs886057314
NM_022081.6(HPS4):c.-116C>T rs886057321
NM_022081.6(HPS4):c.-281A>G rs1028325475
NM_022081.6(HPS4):c.-312C>T rs2091338704
NM_022081.6(HPS4):c.-317G>A rs2091338920
NM_022081.6(HPS4):c.1060T>A (p.Ser354Thr) rs114685298
NM_022081.6(HPS4):c.128C>A (p.Ser43Tyr) rs2091003499
NM_022081.6(HPS4):c.1535C>T (p.Ser512Leu) rs150216540
NM_022081.6(HPS4):c.177A>C (p.Gly59=) rs886057320
NM_022081.6(HPS4):c.608C>T (p.Thr203Ile) rs886057319
NM_022081.6(HPS4):c.706+10G>A rs2088578226
NM_022081.6(HPS4):c.706+15G>T rs762647750
NM_022081.6(HPS4):c.727G>A (p.Val243Ile) rs749572804
NM_022081.6(HPS4):c.741T>A (p.Pro247=) rs35126034
NM_024407.5(NDUFS7):c.*13C>A rs11551663
NM_024747.6(HPS6):c.1127G>A (p.Arg376His) rs1270858817
NM_024747.6(HPS6):c.1201G>A (p.Asp401Asn) rs886046651
NM_024747.6(HPS6):c.1253G>T (p.Gly418Val) rs201468546
NM_024747.6(HPS6):c.138G>A (p.Leu46=) rs886046648
NM_024747.6(HPS6):c.1679G>T (p.Gly560Val) rs765206943
NM_024747.6(HPS6):c.1692C>A (p.Pro564=) rs147449083
NM_024747.6(HPS6):c.194C>G (p.Ala65Gly) rs886046649
NM_024747.6(HPS6):c.238dup (p.Asp80fs) rs281865108
NM_024747.6(HPS6):c.298C>T (p.Leu100=) rs886046650
NM_024747.6(HPS6):c.444C>G (p.Ala148=) rs533784966
NM_024747.6(HPS6):c.732A>G (p.Gly244=) rs756521666
NM_032122.5(DTNBP1):c.*151_*152dup rs555440397
NM_032122.5(DTNBP1):c.1017_1020del (p.Glu340fs) rs752074481
NM_032122.5(DTNBP1):c.1019_1020del (p.Glu340fs) rs752074481
NM_032122.5(DTNBP1):c.489-12_489-8del rs199770715
NM_032122.5(DTNBP1):c.489-8del rs199770715
NM_032122.5(DTNBP1):c.489-8dup rs199770715
NM_032122.5(DTNBP1):c.668-14del rs886061225
NM_032383.4(HPS3):c.-108C>T rs886058074
NM_032383.5(HPS3):c.*129_*130insGC rs886058082
NM_032383.5(HPS3):c.*138A>T rs1049481742
NM_032383.5(HPS3):c.*207C>T rs1725097839
NM_032383.5(HPS3):c.*96_*97insATCACA rs374839757
NM_032383.5(HPS3):c.*97CA[16] rs113015797
NM_032383.5(HPS3):c.*97CA[17] rs113015797
NM_032383.5(HPS3):c.*97CA[20] rs113015797
NM_032383.5(HPS3):c.*97CA[21] rs113015797
NM_032383.5(HPS3):c.*97CA[22] rs113015797
NM_032383.5(HPS3):c.*97CA[23] rs113015797
NM_032383.5(HPS3):c.*97CA[25] rs113015797
NM_032383.5(HPS3):c.*97_*98insTCACAC rs72453449
NM_032383.5(HPS3):c.*97_*98insTCACACAC rs72453449
NM_032383.5(HPS3):c.*97_*98insTCACACACAC rs72453449
NM_032383.5(HPS3):c.*97_*98insTCTCACAC rs72453449
NM_032383.5(HPS3):c.-43C>A rs375227018
NM_032383.5(HPS3):c.10C>T (p.Leu4=) rs1343390851
NM_032383.5(HPS3):c.1200G>C (p.Ala400=) rs377368442
NM_032383.5(HPS3):c.1807G>A (p.Glu603Lys) rs143804526
NM_032383.5(HPS3):c.2224G>A (p.Val742Met) rs886058079
NM_032383.5(HPS3):c.2658C>T (p.Asp886=) rs141916243
NM_032383.5(HPS3):c.2887+19dup rs397710976
NM_032383.5(HPS3):c.2887+8G>T rs781312506
NM_032383.5(HPS3):c.323T>C (p.Met108Thr) rs1722344814
NM_032383.5(HPS3):c.500A>G (p.Asn167Ser) rs1722360673
NM_032383.5(HPS3):c.716T>G (p.Ile239Ser) rs886058075
NM_032383.5(HPS3):c.884+11_884+12insT rs886058076
NM_032383.5(HPS3):c.884+21_884+25dup rs10693502
NM_032383.5(HPS3):c.884+22_884+25dup rs10693502
NM_032383.5(HPS3):c.884+24_884+25dup rs10693502
NM_032383.5(HPS3):c.884+25del rs10693502
NM_032383.5(HPS3):c.963C>T (p.Tyr321=) rs1722440534
NM_053013.4(ENO3):c.1097G>A (p.Gly366Glu) rs1971740543
NM_053013.4(ENO3):c.326A>G (p.Asn109Ser) rs143749502
NM_053013.4(ENO3):c.452A>G (p.Asn151Ser) rs560867570
NM_053013.4(ENO3):c.77C>A (p.Thr26Lys) rs199677913
NM_053013.4(ENO3):c.788C>T (p.Ser263Leu) rs748865733
NM_053013.4(ENO3):c.788_789insATC (p.Ser263dup) rs548538086
NM_053013.4(ENO3):c.789G>A (p.Ser263=) rs75748087
NM_053013.4(ENO3):c.789G>C (p.Ser263=) rs75748087
NM_053013.4(ENO3):c.834del (p.Glu278fs) rs779920188
NM_053013.4(ENO3):c.86-3del rs151153333
NM_054012.3(ASS1):c.-146_-145dup rs886063530
NM_054012.3(ASS1):c.-185A>G rs886063528
NM_054012.3(ASS1):c.-203C>G rs886063527
NM_054012.3(ASS1):c.-217G>T rs1427339813
NM_054012.3(ASS1):c.-233G>C rs886063526
NM_054012.3(ASS1):c.-233G>T rs886063526
NM_054012.3(ASS1):c.-300G>C rs928360571
NM_054012.4(ASS1):c.*225_*228del rs886063534
NM_054012.4(ASS1):c.*244T>C rs1846749628
NM_054012.4(ASS1):c.14G>C (p.Gly5Ala) rs201700775
NM_054012.4(ASS1):c.323G>T (p.Arg108Leu) rs35269064
NM_054012.4(ASS1):c.515C>T (p.Pro172Leu) rs372078387
NM_054012.4(ASS1):c.539G>A (p.Ser180Asn) rs121908638
NM_054012.4(ASS1):c.557T>G (p.Met186Arg) rs1564151430
NM_054012.4(ASS1):c.773+4_773+31dup rs768271017
NM_054012.4(ASS1):c.846C>T (p.Tyr282=) rs549085827
NM_054012.4(ASS1):c.970+12T>A rs886063532
NM_058179.4(PSAT1):c.*219A>G rs1828547598
NM_058179.4(PSAT1):c.*252G>A rs17064358
NM_058179.4(PSAT1):c.*378T>C rs1828550108
NM_058179.4(PSAT1):c.107G>A (p.Gly36Asp) rs1398106119
NM_058179.4(PSAT1):c.10C>G (p.Pro4Ala) rs770574883
NM_058179.4(PSAT1):c.398-7G>A rs1828181852
NM_058179.4(PSAT1):c.4G>T (p.Asp2Tyr) rs547331710
NM_058179.4(PSAT1):c.54G>A (p.Pro18=) rs763694865
NM_058179.4(PSAT1):c.55C>G (p.His19Asp) rs1057515669
NM_058179.4(PSAT1):c.571-4dup rs536197677
NM_058179.4(PSAT1):c.61-2A>G rs1564012047
NM_153006.3(NAGS):c.116C>T (p.Ala39Val) rs754480096
NM_153006.3(NAGS):c.1263C>G (p.Ser421=) rs748046278
NM_153006.3(NAGS):c.1307T>G (p.Leu436Arg) rs867444614
NM_153006.3(NAGS):c.1398G>A (p.Arg466=) rs369492320
NM_153006.3(NAGS):c.1554C>G (p.Ala518=) rs750912652
NM_153006.3(NAGS):c.190G>A (p.Ala64Thr) rs531005276
NM_153006.3(NAGS):c.630C>T (p.Asn210=) rs2049080644
NM_153006.3(NAGS):c.681C>G (p.Ala227=) rs886052982
NM_153006.3(NAGS):c.721G>A (p.Val241Met) rs899402990
NM_153006.3(NAGS):c.807C>T (p.Ser269=) rs767368629
NM_153006.3(NAGS):c.904A>G (p.Ser302Gly) rs377702343
NM_175914.5(HNF4A):c.*1089del rs749515492
NM_175914.5(HNF4A):c.*1106G>A rs753675648
NM_175914.5(HNF4A):c.*1291TCCTCCCT[1] rs3834658
NM_175914.5(HNF4A):c.*145T>A rs200905283
NM_175914.5(HNF4A):c.*1809C>G rs2063876979
NM_175914.5(HNF4A):c.*1826G>A rs1763003018
NM_175914.5(HNF4A):c.*2167T>G rs886056687
NM_175914.5(HNF4A):c.*217C>T rs1019701119
NM_175914.5(HNF4A):c.*2256C>G rs537829031
NM_175914.5(HNF4A):c.*226C>A rs886056680
NM_175914.5(HNF4A):c.*2600T>C rs886056689
NM_175914.5(HNF4A):c.*2674_*2675del rs886056691
NM_175914.5(HNF4A):c.*2676dup rs886056692
NM_175914.5(HNF4A):c.*2677_*2683del rs886056693
NM_175914.5(HNF4A):c.*2677dup rs886056694
NM_175914.5(HNF4A):c.*2678dup rs761222838
NM_175914.5(HNF4A):c.*2679del rs886056695
NM_175914.5(HNF4A):c.*2698_*2704del rs886056697
NM_175914.5(HNF4A):c.*2703del rs11450239
NM_175914.5(HNF4A):c.*2703dup rs11450239
NM_175914.5(HNF4A):c.*2707del rs886056698
NM_175914.5(HNF4A):c.*2707dup rs886056699
NM_175914.5(HNF4A):c.*2761G>C rs1212257046
NM_175914.5(HNF4A):c.*2777del rs886056700
NM_175914.5(HNF4A):c.*2782A>C rs1192263020
NM_175914.5(HNF4A):c.*2796AC[1] rs548863430
NM_175914.5(HNF4A):c.*3024C>T rs886056702
NM_175914.5(HNF4A):c.*3052G>A rs546761850
NM_175914.5(HNF4A):c.*3104A>C rs886056703
NM_175914.5(HNF4A):c.*3142del rs141563916
NM_175914.5(HNF4A):c.*35C>A rs1019496764
NM_175914.5(HNF4A):c.*657G>A rs3212209
NM_175914.5(HNF4A):c.*76G>T rs11574743
NM_175914.5(HNF4A):c.*906A>C rs3212210
NM_175914.5(HNF4A):c.*906A>T rs3212210
NM_175914.5(HNF4A):c.*965G>T rs886056683
NM_175914.5(HNF4A):c.*987G>T rs886056684
NM_175914.5(HNF4A):c.*993G>A rs2063867733
NM_175914.5(HNF4A):c.1290C>T (p.Ala430=) rs530389600
NM_175914.5(HNF4A):c.224+17dup rs371937621
NM_175914.5(HNF4A):c.50-4630T>C rs2063407237
NM_175914.5(HNF4A):c.50-4791_50-4788del rs886056679
NM_178161.3(PTF1A):c.*126_*129del rs533517653
NM_178161.3(PTF1A):c.*157GAT[1] rs149560393
NM_181507.1(HPS5):c.-251C>T rs4150530
NM_181507.2(HPS5):c.*1003_*1004del rs886048070
NM_181507.2(HPS5):c.*1201A>G rs1858510966
NM_181507.2(HPS5):c.*655A>C rs886048073
NM_181507.2(HPS5):c.*956T>G rs886048072
NM_181507.2(HPS5):c.*960T>A rs886048071
NM_181507.2(HPS5):c.-217G>A rs761585857
NM_181507.2(HPS5):c.1032C>T (p.His344=) rs1385130088
NM_181507.2(HPS5):c.1123C>G (p.Arg375Gly) rs761598432
NM_181507.2(HPS5):c.1423del (p.Leu475fs) rs766602179
NM_181507.2(HPS5):c.1479A>G (p.Pro493=) rs886048081
NM_181507.2(HPS5):c.1510+3G>A rs886048080
NM_181507.2(HPS5):c.1549A>C (p.Lys517Gln) rs770838422
NM_181507.2(HPS5):c.163G>A (p.Gly55Arg) rs774361456
NM_181507.2(HPS5):c.1785-9C>A rs886048079
NM_181507.2(HPS5):c.2058A>G (p.Glu686=) rs1860442520
NM_181507.2(HPS5):c.2144A>G (p.Glu715Gly) rs886048078
NM_181507.2(HPS5):c.2221ACA[1] (p.Thr742del) rs886048077
NM_181507.2(HPS5):c.260A>T (p.Asp87Val) rs886048083
NM_181507.2(HPS5):c.2837+15del rs886048076
NM_181507.2(HPS5):c.885C>T (p.Leu295=) rs369851648
NM_183050.3(BCKDHB):c.-41C>T rs763746493
NM_183050.4(BCKDHB):c.*1008T>C rs1283478954
NM_183050.4(BCKDHB):c.*1143A>G rs1770126804
NM_183050.4(BCKDHB):c.*1162T>C rs886061812
NM_183050.4(BCKDHB):c.*1239dup rs772846294
NM_183050.4(BCKDHB):c.*1279A>G rs1770137265
NM_183050.4(BCKDHB):c.*1909T>C rs529166544
NM_183050.4(BCKDHB):c.*2224dup rs757446051
NM_183050.4(BCKDHB):c.*263C>A rs533006469
NM_183050.4(BCKDHB):c.*501A>G rs1770079109
NM_183050.4(BCKDHB):c.*540T>C rs201154827
NM_183050.4(BCKDHB):c.*559_*560del rs10579475
NM_183050.4(BCKDHB):c.*559_*560dup rs10579475
NM_183050.4(BCKDHB):c.*560dup rs10579475
NM_183050.4(BCKDHB):c.*777G>C rs954822411
NM_183050.4(BCKDHB):c.1112T>C (p.Phe371Ser) rs750930993
NM_183050.4(BCKDHB):c.51A>C (p.Ala17=) rs376293687
NM_183050.4(BCKDHB):c.51A>G (p.Ala17=) rs376293687
NM_183050.4(BCKDHB):c.595_596del (p.Ser199_Pro200insTer) rs398124587
NM_183235.3(RAB27A):c.*1110A>G rs560464809
NM_183235.3(RAB27A):c.*1172T>C rs148704535
NM_183235.3(RAB27A):c.*121A>G rs886051316
NM_183235.3(RAB27A):c.*131C>T rs993461205
NM_183235.3(RAB27A):c.*1493T>A rs149948399
NM_183235.3(RAB27A):c.*1546T>C rs1894521152
NM_183235.3(RAB27A):c.*1612dup rs886051307
NM_183235.3(RAB27A):c.*162G>C rs886051315
NM_183235.3(RAB27A):c.*1678T>A rs540548388
NM_183235.3(RAB27A):c.*1863C>G rs566144766
NM_183235.3(RAB27A):c.*1904A>T rs28620827
NM_183235.3(RAB27A):c.*1915_*1920delinsTAAATAAAT rs886051305
NM_183235.3(RAB27A):c.*1919A>T rs867969605
NM_183235.3(RAB27A):c.*1922_*1923insTAA rs555244731
NM_183235.3(RAB27A):c.*2241_*2247del rs565165091
NM_183235.3(RAB27A):c.*28A>G rs1894595727
NM_183235.3(RAB27A):c.*388G>C rs886051314
NM_183235.3(RAB27A):c.*415C>T rs1894577892
NM_183235.3(RAB27A):c.*425G>A rs886051313
NM_183235.3(RAB27A):c.*457A>G rs112397072
NM_183235.3(RAB27A):c.*561A>T rs886051312
NM_183235.3(RAB27A):c.*595G>T rs538867721
NM_183235.3(RAB27A):c.*723C>T rs886051311
NM_183235.3(RAB27A):c.*854A>G rs1894556488
NM_183235.3(RAB27A):c.*858G>A rs886051309
NM_183235.3(RAB27A):c.*9G>A rs768429078
NM_183235.3(RAB27A):c.-142-110G>A rs1275639637
NM_183235.3(RAB27A):c.-142-46A>G rs8031271
NM_183235.3(RAB27A):c.-142-65C>G rs150033129
NM_183235.3(RAB27A):c.-23+13A>G rs1897659170
NM_183235.3(RAB27A):c.167G>A (p.Ser56Asn) rs540520068
NM_183235.3(RAB27A):c.343+3_343+6del rs886051317
NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser) rs730882246
NM_212552.3(BOLA3):c.*134T>C rs1692305544
NM_212552.3(BOLA3):c.181G>A (p.Ala61Thr) rs747762311
NM_212552.3(BOLA3):c.21C>T (p.Ala7=) rs1008159965

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