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
|
|