NM_001918.5(DBT):c.*6902T>A
|
rs200943386
|
0.79813
|
NM_003748.4(ALDH4A1):c.1583C>A (p.Thr528Asn)
|
rs61757683
|
0.01760
|
NM_003748.4(ALDH4A1):c.*272C>T
|
rs41273171
|
0.01547
|
NM_058179.4(PSAT1):c.*836A>G
|
rs41277905
|
0.00996
|
NM_003748.4(ALDH4A1):c.*1040C>T
|
rs76525996
|
0.00915
|
NM_012463.4(ATP6V0A2):c.*2875A>C
|
rs149741581
|
0.00851
|
NM_000687.4(AHCY):c.-34C>T
|
rs57344541
|
0.00825
|
NM_001918.5(DBT):c.*6901T>A
|
rs200062717
|
0.00778
|
NM_003748.4(ALDH4A1):c.*1173C>T
|
rs115664776
|
0.00723
|
NM_058179.4(PSAT1):c.*664A>G
|
rs41277903
|
0.00716
|
NM_000274.4(OAT):c.-30+8C>T
|
rs552799531
|
0.00661
|
NM_000108.5(DLD):c.*1145A>T
|
rs143750422
|
0.00638
|
NM_000317.3(PTS):c.*60T>C
|
rs149320135
|
0.00631
|
NM_012463.4(ATP6V0A2):c.*191T>C
|
rs150408179
|
0.00628
|
NM_012463.4(ATP6V0A2):c.*3665T>G
|
rs2651
|
0.00616
|
NM_003748.4(ALDH4A1):c.678+3G>A
|
rs138788183
|
0.00516
|
NM_004577.3(PSPH):c.-720G>T
|
rs190794562
|
0.00491
|
NM_003748.4(ALDH4A1):c.1218C>T (p.His406=)
|
rs111291014
|
0.00488
|
NM_020686.6(ABAT):c.*2884T>C
|
rs10261
|
0.00480
|
NM_000353.3(TAT):c.*852G>A
|
rs191942931
|
0.00427
|
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_000170.3(GLDC):c.2113G>A (p.Val705Met)
|
rs147275962
|
0.00405
|
NM_003748.4(ALDH4A1):c.*1197C>G
|
rs7419135
|
0.00402
|
NM_001918.5(DBT):c.*3652G>C
|
rs755229964
|
0.00400
|
NM_000353.3(TAT):c.*409G>A
|
rs572677025
|
0.00387
|
NM_003748.4(ALDH4A1):c.*122T>C
|
rs2230712
|
0.00383
|
NM_000156.6(GAMT):c.79T>C (p.Tyr27His)
|
rs200833152
|
0.00345
|
NM_001918.5(DBT):c.*4124C>A
|
rs139169068
|
0.00327
|
NM_003748.4(ALDH4A1):c.*711C>G
|
rs543972561
|
0.00319
|
NM_000187.3(HGD):c.-207G>A
|
rs147272996
|
0.00306
|
NM_003748.4(ALDH4A1):c.1185+10G>A
|
rs201079601
|
0.00301
|
NM_020686.6(ABAT):c.55C>T (p.Arg19Cys)
|
rs77696190
|
0.00287
|
NM_000170.3(GLDC):c.*115A>T
|
rs148273307
|
0.00276
|
NM_000277.3(PAH):c.772C>T (p.Leu258=)
|
rs75065106
|
0.00272
|
NM_001352514.2(HLCS):c.*3159_*3162del
|
rs535525635
|
0.00270
|
NM_000108.5(DLD):c.*1422C>T
|
rs568479120
|
0.00265
|
NM_183050.4(BCKDHB):c.*2212T>C
|
rs191556844
|
0.00257
|
NM_000277.3(PAH):c.*650A>G
|
rs180991851
|
0.00256
|
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)
|
rs117687681
|
0.00255
|
NM_003748.4(ALDH4A1):c.228G>A (p.Ser76=)
|
rs145686117
|
0.00250
|
NM_000161.3(GCH1):c.*93G>A
|
rs41298438
|
0.00249
|
NM_003748.4(ALDH4A1):c.413C>T (p.Pro138Leu)
|
rs139640415
|
0.00249
|
NM_001352514.2(HLCS):c.1074G>A (p.Thr358=)
|
rs116985497
|
0.00235
|
NM_000320.3(QDPR):c.*568T>G
|
rs560933456
|
0.00230
|
NM_003748.4(ALDH4A1):c.*9C>T
|
rs138534161
|
0.00217
|
NM_000170.3(GLDC):c.2487C>T (p.Ala829=)
|
rs141806715
|
0.00213
|
NM_000170.3(GLDC):c.1156-7C>G
|
rs150095531
|
0.00208
|
NM_001352514.2(HLCS):c.*590A>G
|
rs148195019
|
0.00207
|
NM_020686.6(ABAT):c.*1814T>C
|
rs41312250
|
0.00200
|
NM_020686.6(ABAT):c.-52G>T
|
rs532269694
|
0.00198
|
NM_003748.4(ALDH4A1):c.244G>A (p.Val82Met)
|
rs76762510
|
0.00197
|
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly)
|
rs141093638
|
0.00181
|
NM_001918.5(DBT):c.753C>T (p.Asp251=)
|
rs79292123
|
0.00179
|
NM_001918.5(DBT):c.*5328C>G
|
rs150770445
|
0.00175
|
NM_003748.3(ALDH4A1):c.-73C>T
|
rs559524012
|
0.00174
|
NM_001352514.2(HLCS):c.*1856T>C
|
rs151042283
|
0.00171
|
NM_000071.3(CBS):c.1059G>A (p.Thr353=)
|
rs61735859
|
0.00162
|
NM_003748.4(ALDH4A1):c.*189G>A
|
rs11484737
|
0.00161
|
NM_020686.6(ABAT):c.*1922G>A
|
rs116752370
|
0.00161
|
NM_001080.3(ALDH5A1):c.*472C>T
|
rs140376278
|
0.00156
|
NM_012463.4(ATP6V0A2):c.*2618A>G
|
rs193208741
|
0.00155
|
NM_002860.4(ALDH18A1):c.2232G>A (p.Ser744=)
|
rs148601288
|
0.00153
|
NM_000687.4(AHCY):c.853C>T (p.Arg285Trp)
|
rs116846245
|
0.00152
|
NM_000161.3(GCH1):c.*736A>G
|
rs150176097
|
0.00151
|
NM_005589.4(ALDH6A1):c.*234C>T
|
rs117311919
|
0.00150
|
NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=)
|
rs138886791
|
0.00150
|
NM_003748.4(ALDH4A1):c.298-14C>T
|
rs201072479
|
0.00149
|
NM_005589.4(ALDH6A1):c.*1655C>T
|
rs12147048
|
0.00146
|
NM_005589.4(ALDH6A1):c.*1367A>G
|
rs186963818
|
0.00145
|
NM_000481.4(AMT):c.*545C>T
|
rs114057053
|
0.00144
|
NM_001352514.2(HLCS):c.*2921A>G
|
rs555149143
|
0.00141
|
NM_002150.3(HPD):c.498G>A (p.Met166Ile)
|
rs149081239
|
0.00141
|
NM_001352514.2(HLCS):c.*2243C>T
|
rs554230015
|
0.00140
|
NM_020686.6(ABAT):c.*1319C>G
|
rs186937149
|
0.00138
|
NM_003748.4(ALDH4A1):c.1096G>A (p.Gly366Arg)
|
rs41306567
|
0.00133
|
NM_005589.4(ALDH6A1):c.*1602G>A
|
rs550384718
|
0.00133
|
NM_000170.3(GLDC):c.2955G>A (p.Thr985=)
|
rs142004524
|
0.00131
|
NM_001918.5(DBT):c.*3461A>G
|
rs532058526
|
0.00125
|
NM_003748.4(ALDH4A1):c.102C>T (p.Asn34=)
|
rs148778436
|
0.00124
|
NM_003124.5(SPR):c.*321G>C
|
rs527829365
|
0.00121
|
NM_002860.4(ALDH18A1):c.-29+10G>A
|
rs571140165
|
0.00119
|
NM_001352514.2(HLCS):c.*3162T>C
|
rs552016201
|
0.00118
|
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala)
|
rs147370143
|
0.00117
|
NM_003748.4(ALDH4A1):c.135T>G (p.Pro45=)
|
rs147154947
|
0.00116
|
NM_001352514.2(HLCS):c.*2163A>G
|
rs139776215
|
0.00115
|
NM_000170.3(GLDC):c.2988G>C (p.Gln996His)
|
rs138640017
|
0.00112
|
NM_002860.4(ALDH18A1):c.1308G>A (p.Leu436=)
|
rs144816455
|
0.00112
|
NM_012463.4(ATP6V0A2):c.*2929C>G
|
rs145602576
|
0.00111
|
NM_000170.3(GLDC):c.498T>C (p.Pro166=)
|
rs150193069
|
0.00110
|
NM_000137.4(FAH):c.565G>A (p.Val189Ile)
|
rs145389125
|
0.00108
|
NM_000687.4(AHCY):c.-63A>G
|
rs58942263
|
0.00108
|
NM_000161.3(GCH1):c.*1628A>C
|
rs185031007
|
0.00106
|
NM_000353.3(TAT):c.*581G>A
|
rs141029428
|
0.00106
|
NM_020686.6(ABAT):c.*1416T>A
|
rs553436440
|
0.00104
|
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_001482.3(GATM):c.69+13C>T
|
rs573273215
|
0.00101
|
NM_006623.4(PHGDH):c.1559C>A (p.Ala520Glu)
|
rs151275800
|
0.00101
|
NM_058179.4(PSAT1):c.*670T>G
|
rs143748888
|
0.00100
|
NM_000187.3(HGD):c.-452G>T
|
rs142298361
|
0.00099
|
NM_000687.4(AHCY):c.219+7C>G
|
rs200332864
|
0.00098
|
NM_003124.5(SPR):c.305-12T>C
|
rs192766290
|
0.00098
|
NM_000071.3(CBS):c.-136C>T
|
rs543595103
|
0.00096
|
NM_001918.5(DBT):c.*1917C>A
|
rs886044957
|
0.00096
|
NM_000170.3(GLDC):c.2964G>A (p.Arg988=)
|
rs146045718
|
0.00095
|
NM_006623.4(PHGDH):c.*140A>G
|
rs587687027
|
0.00095
|
NM_000137.4(FAH):c.1205G>A (p.Arg402His)
|
rs147796599
|
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_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_005589.4(ALDH6A1):c.194A>G (p.Asn65Ser)
|
rs111975186
|
0.00090
|
NM_000187.3(HGD):c.-383C>G
|
rs148732655
|
0.00089
|
NM_001482.3(GATM):c.*699A>C
|
rs750817737
|
0.00089
|
NM_003748.4(ALDH4A1):c.1261T>C (p.Cys421Arg)
|
rs149414160
|
0.00089
|
NM_012463.4(ATP6V0A2):c.*1681G>A
|
rs575925916
|
0.00089
|
NM_012463.4(ATP6V0A2):c.*577C>T
|
rs577796265
|
0.00089
|
NM_000161.3(GCH1):c.*1044G>A
|
rs143961472
|
0.00088
|
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_005589.4(ALDH6A1):c.145G>A (p.Val49Ile)
|
rs140308322
|
0.00086
|
NM_012463.4(ATP6V0A2):c.1189+12G>T
|
rs377235629
|
0.00085
|
NM_000071.3(CBS):c.*18G>A
|
rs200259659
|
0.00083
|
NM_001918.5(DBT):c.*3521G>A
|
rs754461561
|
0.00083
|
NM_006623.4(PHGDH):c.682G>T (p.Gly228Trp)
|
rs139063843
|
0.00083
|
NM_001080.3(ALDH5A1):c.*942A>G
|
rs750171065
|
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_000108.5(DLD):c.788G>A (p.Arg263His)
|
rs145670503
|
0.00080
|
NM_000277.3(PAH):c.*699C>T
|
rs189466448
|
0.00078
|
NM_000277.3(PAH):c.*735T>C
|
rs185081299
|
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_000156.6(GAMT):c.581T>C (p.Val194Ala)
|
rs147739199
|
0.00077
|
NM_001352514.2(HLCS):c.1331G>A (p.Arg444Gln)
|
rs146030669
|
0.00074
|
NM_000274.4(OAT):c.1224T>C (p.His408=)
|
rs201864147
|
0.00073
|
NM_000481.4(AMT):c.354G>A (p.Leu118=)
|
rs145194293
|
0.00072
|
NM_020686.6(ABAT):c.*435G>A
|
rs572396439
|
0.00071
|
NM_000274.4(OAT):c.48C>T (p.Arg16=)
|
rs143526711
|
0.00070
|
NM_001080.3(ALDH5A1):c.*2852C>G
|
rs560247554
|
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_000277.3(PAH):c.30C>G (p.Gly10=)
|
rs1801145
|
0.00069
|
NM_000071.3(CBS):c.829-13G>A
|
rs201106576
|
0.00067
|
NM_000137.4(FAH):c.553+10C>T
|
rs201051426
|
0.00067
|
NM_000687.4(AHCY):c.1008C>T (p.Ile336=)
|
rs139344907
|
0.00067
|
NM_001080.3(ALDH5A1):c.*563G>A
|
rs528167769
|
0.00066
|
NM_004577.4(PSPH):c.115G>A (p.Gly39Ser)
|
rs147077540
|
0.00066
|
NM_003748.4(ALDH4A1):c.369C>G (p.Asp123Glu)
|
rs147600006
|
0.00065
|
NM_001482.3(GATM):c.407C>T (p.Thr136Met)
|
rs148564534
|
0.00063
|
NM_003748.4(ALDH4A1):c.*367C>T
|
rs142571888
|
0.00063
|
NM_000709.4(BCKDHA):c.1191C>T (p.Ala397=)
|
rs374403946
|
0.00062
|
NM_000170.3(GLDC):c.2730G>A (p.Ser910=)
|
rs144937031
|
0.00061
|
NM_000187.3(HGD):c.*210G>A
|
rs768955353
|
0.00061
|
NM_000709.4(BCKDHA):c.*244C>T
|
rs749083860
|
0.00061
|
NM_001352514.2(HLCS):c.331-7076C>T
|
rs541806392
|
0.00061
|
NM_058179.4(PSAT1):c.*496A>G
|
rs553854445
|
0.00061
|
NM_001352514.2(HLCS):c.*2814C>T
|
rs146199781
|
0.00059
|
NM_012463.4(ATP6V0A2):c.*1599C>T
|
rs534414817
|
0.00059
|
NM_001482.3(GATM):c.*27C>G
|
rs200143728
|
0.00058
|
NM_000048.4(ASL):c.399G>A (p.Ser133=)
|
rs141584041
|
0.00057
|
NM_000281.4(PCBD1):c.-27C>G
|
rs573430589
|
0.00057
|
NM_000481.4(AMT):c.*678C>G
|
rs779703869
|
0.00057
|
NM_183050.4(BCKDHB):c.*1603G>A
|
rs143744799
|
0.00057
|
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_001352514.2(HLCS):c.*2545C>A
|
rs180866987
|
0.00056
|
NM_004577.4(PSPH):c.-357C>T
|
rs745752622
|
0.00056
|
NM_058179.4(PSAT1):c.445G>A (p.Val149Met)
|
rs142975997
|
0.00056
|
NM_000360.4(TH):c.897C>T (p.Phe299=)
|
rs76719766
|
0.00054
|
NM_001482.3(GATM):c.*55C>A
|
rs771806537
|
0.00054
|
NM_003124.5(SPR):c.*108G>A
|
rs372751802
|
0.00054
|
NM_183050.4(BCKDHB):c.*1554C>G
|
rs563993638
|
0.00054
|
NM_000709.4(BCKDHA):c.289-5C>T
|
rs200646708
|
0.00053
|
NM_000108.5(DLD):c.*1307C>T
|
rs568807016
|
0.00052
|
NM_000709.4(BCKDHA):c.1081A>G (p.Ile361Val)
|
rs61736656
|
0.00052
|
NM_002860.4(ALDH18A1):c.*698G>A
|
rs557388312
|
0.00052
|
NM_001080.3(ALDH5A1):c.*2903C>T
|
rs532636189
|
0.00051
|
NM_006623.4(PHGDH):c.834C>A (p.Val278=)
|
rs147866831
|
0.00051
|
NM_000687.4(AHCY):c.390C>T (p.Asp130=)
|
rs143931269
|
0.00050
|
NM_000170.3(GLDC):c.2328C>T (p.Leu776=)
|
rs149600380
|
0.00049
|
NM_018368.4(LMBRD1):c.-103A>G
|
rs369575833
|
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_001080.3(ALDH5A1):c.1107C>T (p.Arg369=)
|
rs148188703
|
0.00047
|
NM_001918.5(DBT):c.*9105A>G
|
rs574151688
|
0.00047
|
NM_000108.5(DLD):c.*1791_*1794del
|
rs760145994
|
0.00046
|
NM_000156.6(GAMT):c.*239C>T
|
rs550282678
|
0.00046
|
NM_000274.3(OAT):c.-83A>G
|
rs969985784
|
0.00046
|
NM_000274.4(OAT):c.1015-6A>G
|
rs561800688
|
0.00046
|
NM_000320.3(QDPR):c.588G>C (p.Glu196Asp)
|
rs112209600
|
0.00046
|
NM_003748.4(ALDH4A1):c.*19C>T
|
rs377545652
|
0.00046
|
NM_000108.5(DLD):c.100A>G (p.Thr34Ala)
|
rs138002793
|
0.00045
|
NM_001352514.2(HLCS):c.215A>T (p.Lys72Met)
|
rs191115811
|
0.00045
|
NM_003748.4(ALDH4A1):c.-26G>T
|
rs536547354
|
0.00045
|
NM_000170.3(GLDC):c.*188C>T
|
rs577665662
|
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_183050.4(BCKDHB):c.*1010A>G
|
rs536048070
|
0.00044
|
NM_000156.5(GAMT):c.-78C>T
|
rs886054249
|
0.00043
|
NM_000156.5(GAMT):c.-79G>A
|
rs966975299
|
0.00043
|
NM_000709.4(BCKDHA):c.288C>T (p.His96=)
|
rs148571328
|
0.00043
|
NM_000360.4(TH):c.363G>A (p.Pro121=)
|
rs370429316
|
0.00042
|
NM_002860.4(ALDH18A1):c.1314C>T (p.Ile438=)
|
rs150526956
|
0.00042
|
NM_020686.6(ABAT):c.109G>A (p.Val37Ile)
|
rs140119176
|
0.00042
|
NM_000137.4(FAH):c.243G>A (p.Ala81=)
|
rs36122289
|
0.00041
|
NM_001080.3(ALDH5A1):c.*1355C>T
|
rs138759652
|
0.00041
|
NM_002150.3(HPD):c.895C>T (p.Leu299=)
|
rs144544907
|
0.00041
|
NM_058179.4(PSAT1):c.665G>A (p.Arg222Gln)
|
rs114496656
|
0.00041
|
NM_000108.5(DLD):c.*1857A>C
|
rs774099916
|
0.00040
|
NM_001080.3(ALDH5A1):c.*2400G>C
|
rs745635354
|
0.00040
|
NM_005589.4(ALDH6A1):c.*1601C>T
|
rs1001370504
|
0.00040
|
NM_020686.6(ABAT):c.*2070G>C
|
rs150364609
|
0.00040
|
NM_000108.5(DLD):c.55C>G (p.Arg19Gly)
|
rs144038427
|
0.00039
|
NM_000274.4(OAT):c.*61A>G
|
rs530505560
|
0.00039
|
NM_000709.4(BCKDHA):c.*20C>A
|
rs370480422
|
0.00039
|
NM_002150.3(HPD):c.954+14A>C
|
rs200866898
|
0.00039
|
NM_000071.3(CBS):c.394C>T (p.Arg132Cys)
|
rs140002610
|
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_000709.4(BCKDHA):c.63C>T (p.Ala21=)
|
rs140322984
|
0.00038
|
NM_012463.4(ATP6V0A2):c.*2759T>C
|
rs550259483
|
0.00038
|
NM_000320.3(QDPR):c.450C>T (p.Tyr150=)
|
rs140949360
|
0.00037
|
NM_012463.4(ATP6V0A2):c.954C>T (p.Asp318=)
|
rs75746974
|
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_000277.3(PAH):c.609C>T (p.Cys203=)
|
rs1801147
|
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_003124.5(SPR):c.*575G>A
|
rs550861892
|
0.00036
|
NM_012463.4(ATP6V0A2):c.522-9G>A
|
rs189175284
|
0.00036
|
NM_000187.4(HGD):c.*32G>A
|
rs376051958
|
0.00035
|
NM_000277.3(PAH):c.299A>G (p.His100Arg)
|
rs148393887
|
0.00035
|
NM_001080.3(ALDH5A1):c.*1485C>T
|
rs745486717
|
0.00035
|
NM_001482.2(GATM):c.-274C>T
|
rs745765661
|
0.00035
|
NM_005589.4(ALDH6A1):c.*1208C>T
|
rs533760077
|
0.00035
|
NM_000170.3(GLDC):c.698T>C (p.Val233Ala)
|
rs140013612
|
0.00034
|
NM_000360.4(TH):c.1255G>A (p.Val419Met)
|
rs184106392
|
0.00034
|
NM_003748.4(ALDH4A1):c.1073A>G (p.His358Arg)
|
rs145243354
|
0.00034
|
NM_020686.6(ABAT):c.*2276G>C
|
rs552096436
|
0.00034
|
NM_012463.4(ATP6V0A2):c.1766C>T (p.Pro589Leu)
|
rs149700024
|
0.00033
|
NM_000170.3(GLDC):c.2147T>A (p.Leu716His)
|
rs145018304
|
0.00032
|
NM_000481.4(AMT):c.101G>A (p.Arg34His)
|
rs138259479
|
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_000170.3(GLDC):c.*235T>G
|
rs749941145
|
0.00031
|
NM_000170.3(GLDC):c.1000T>C (p.Phe334Leu)
|
rs149133229
|
0.00031
|
NM_000481.4(AMT):c.825T>A (p.Asn275Lys)
|
rs144241950
|
0.00031
|
NM_005589.4(ALDH6A1):c.151T>C (p.Ser51Pro)
|
rs61745707
|
0.00031
|
NM_058179.4(PSAT1):c.*498C>T
|
rs573775683
|
0.00031
|
NM_000687.4(AHCY):c.882C>G (p.Ala294=)
|
rs376464023
|
0.00030
|
NM_001080.3(ALDH5A1):c.*1221C>T
|
rs376290382
|
0.00030
|
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_000108.5(DLD):c.763A>C (p.Met255Leu)
|
rs533405046
|
0.00029
|
NM_000161.3(GCH1):c.507G>A (p.Ala169=)
|
rs150158277
|
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_000687.4(AHCY):c.855-8C>T
|
rs370059571
|
0.00029
|
NM_000709.4(BCKDHA):c.294G>A (p.Pro98=)
|
rs142967869
|
0.00029
|
NM_001352514.2(HLCS):c.*2771C>T
|
rs746169122
|
0.00029
|
NM_001352514.2(HLCS):c.*430T>C
|
rs186680398
|
0.00029
|
NM_001918.5(DBT):c.*9123A>G
|
rs79752201
|
0.00029
|
NM_000170.3(GLDC):c.2874C>T (p.Ser958=)
|
rs146339375
|
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_000709.3(BCKDHA):c.-25G>C
|
rs202084220
|
0.00028
|
NM_005589.4(ALDH6A1):c.*1887A>C
|
rs566580516
|
0.00028
|
NM_000187.3(HGD):c.-221G>A
|
rs535973482
|
0.00026
|
NM_000274.4(OAT):c.*311T>C
|
rs753216934
|
0.00026
|
NM_000317.3(PTS):c.195T>C (p.Pro65=)
|
rs143472856
|
0.00026
|
NM_000320.3(QDPR):c.*612T>C
|
rs776067259
|
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_001918.5(DBT):c.*1322C>T
|
rs941752024
|
0.00026
|
NM_001918.5(DBT):c.*347C>T
|
rs372982170
|
0.00026
|
NM_003748.4(ALDH4A1):c.1377G>C (p.Pro459=)
|
rs146222625
|
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_020686.6(ABAT):c.-107G>A
|
rs531589337
|
0.00026
|
NM_183050.4(BCKDHB):c.744G>A (p.Ala248=)
|
rs147719822
|
0.00026
|
NM_001352514.2(HLCS):c.*2541C>T
|
rs184935954
|
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_000108.5(DLD):c.*845G>A
|
rs750426584
|
0.00024
|
NM_000170.3(GLDC):c.-31C>A
|
rs964863986
|
0.00024
|
NM_000360.4(TH):c.1334+3G>C
|
rs371566928
|
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_000709.4(BCKDHA):c.744C>T (p.Ala248=)
|
rs137960127
|
0.00024
|
NM_001918.5(DBT):c.*5877G>C
|
rs562874757
|
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_006721.4(ADK):c.429C>T (p.Cys143=)
|
rs142477111
|
0.00024
|
NM_012463.4(ATP6V0A2):c.*1803C>T
|
rs117646592
|
0.00024
|
NM_058179.4(PSAT1):c.700G>T (p.Ala234Ser)
|
rs145496413
|
0.00024
|
NM_000274.4(OAT):c.-12T>G
|
rs775990544
|
0.00023
|
NM_000277.3(PAH):c.1161C>T (p.Tyr387=)
|
rs149595475
|
0.00023
|
NM_000360.4(TH):c.1368C>T (p.Ser456=)
|
rs45538536
|
0.00023
|
NM_001080.3(ALDH5A1):c.*1230T>G
|
rs778833032
|
0.00023
|
NM_183050.4(BCKDHB):c.*574A>G
|
rs527284649
|
0.00023
|
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_000161.3(GCH1):c.*612C>T
|
rs551381738
|
0.00022
|
NM_000161.3(GCH1):c.*715G>T
|
rs886050545
|
0.00022
|
NM_000187.4(HGD):c.835C>A (p.Leu279Met)
|
rs200382812
|
0.00022
|
NM_000187.4(HGD):c.8A>C (p.Glu3Ala)
|
rs200412910
|
0.00022
|
NM_000281.4(PCBD1):c.*29G>A
|
rs539645507
|
0.00022
|
NM_000360.4(TH):c.12C>T (p.Pro4=)
|
rs147131010
|
0.00022
|
NM_000481.4(AMT):c.697-3C>T
|
rs373703503
|
0.00022
|
NM_003124.5(SPR):c.*410C>G
|
rs886056290
|
0.00022
|
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_001918.5(DBT):c.*2092A>T
|
rs1055914530
|
0.00021
|
NM_001918.5(DBT):c.*5875T>G
|
rs761370134
|
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_020686.6(ABAT):c.*1704G>C
|
rs752676943
|
0.00021
|
NM_032316.3(NICN1):c.*2247T>C
|
rs750502117
|
0.00021
|
NM_000071.3(CBS):c.856A>G (p.Ile286Val)
|
rs147040567
|
0.00020
|
NM_000108.5(DLD):c.*1092C>T
|
rs546777301
|
0.00020
|
NM_000687.4(AHCY):c.*583G>C
|
rs552690185
|
0.00020
|
NM_001080.3(ALDH5A1):c.1344-6T>C
|
rs368212282
|
0.00020
|
NM_001918.5(DBT):c.*4250C>T
|
rs774122510
|
0.00020
|
NM_005589.4(ALDH6A1):c.*991G>A
|
rs945903840
|
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.*921C>T
|
rs542630714
|
0.00020
|
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_000277.3(PAH):c.*272C>T
|
rs928972999
|
0.00019
|
NM_000277.3(PAH):c.399T>C (p.Asn133=)
|
rs145692106
|
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_000709.4(BCKDHA):c.*314A>G
|
rs535136507
|
0.00019
|
NM_001080.3(ALDH5A1):c.831G>A (p.Val277=)
|
rs138912422
|
0.00019
|
NM_001352514.2(HLCS):c.*1852G>T
|
rs551457805
|
0.00019
|
NM_002150.3(HPD):c.*191C>T
|
rs886049036
|
0.00019
|
NM_003124.5(SPR):c.*50C>T
|
rs760241473
|
0.00019
|
NM_003748.4(ALDH4A1):c.150G>A (p.Leu50=)
|
rs201605414
|
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_020686.6(ABAT):c.*1110A>C
|
rs886052437
|
0.00019
|
NM_020686.6(ABAT):c.*2352G>C
|
rs886052446
|
0.00019
|
NM_000481.4(AMT):c.1136A>C (p.Glu379Ala)
|
rs201189946
|
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_020686.6(ABAT):c.*2284A>C
|
rs984367608
|
0.00018
|
NM_000360.4(TH):c.679G>A (p.Glu227Lys)
|
rs536382000
|
0.00017
|
NM_000481.4(AMT):c.*424G>C
|
rs746995778
|
0.00017
|
NM_001918.5(DBT):c.*9153_*9156del
|
rs780877675
|
0.00017
|
NM_003748.4(ALDH4A1):c.*646G>A
|
rs567528405
|
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_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_000277.3(PAH):c.*79G>A
|
rs569495604
|
0.00016
|
NM_000360.4(TH):c.-18G>A
|
rs370306636
|
0.00016
|
NM_000481.4(AMT):c.*163G>C
|
rs200568631
|
0.00016
|
NM_000709.4(BCKDHA):c.420G>A (p.Thr140=)
|
rs143608852
|
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_004577.4(PSPH):c.*12G>A
|
rs376164457
|
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_020686.6(ABAT):c.*1771C>G
|
rs543197540
|
0.00016
|
NM_000161.3(GCH1):c.*1033C>T
|
rs867220379
|
0.00015
|
NM_001918.5(DBT):c.*295G>A
|
rs556913110
|
0.00015
|
NM_001918.5(DBT):c.*918G>T
|
rs555064255
|
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_020686.6(ABAT):c.*283T>C
|
rs142722977
|
0.00015
|
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_000481.4(AMT):c.858C>A (p.Gly286=)
|
rs367726589
|
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_001918.5(DBT):c.*8275A>G
|
rs189649370
|
0.00014
|
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_000108.5(DLD):c.-8G>T
|
rs372155330
|
0.00013
|
NM_000137.4(FAH):c.-40C>G
|
rs371100968
|
0.00013
|
NM_000137.4(FAH):c.841C>A (p.Pro281Thr)
|
rs199820704
|
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_000187.4(HGD):c.1176C>T (p.Ala392=)
|
rs368805723
|
0.00013
|
NM_000187.4(HGD):c.567C>G (p.Ser189Arg)
|
rs750428921
|
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_000320.3(QDPR):c.*329T>G
|
rs886059238
|
0.00013
|
NM_000360.4(TH):c.*9C>T
|
rs762091461
|
0.00013
|
NM_000687.4(AHCY):c.918C>T (p.Ile306=)
|
rs146829385
|
0.00013
|
NM_001080.3(ALDH5A1):c.*7T>C
|
rs199767765
|
0.00013
|
NM_001352514.2(HLCS):c.1550C>T (p.Thr517Ile)
|
rs575286749
|
0.00013
|
NM_003748.4(ALDH4A1):c.*464G>A
|
rs536186688
|
0.00013
|
NM_006623.4(PHGDH):c.-79T>C
|
rs747803505
|
0.00013
|
NM_012463.4(ATP6V0A2):c.*2833A>T
|
rs117111955
|
0.00013
|
NM_015702.3(MMADHC):c.-60G>A
|
rs886054923
|
0.00013
|
NM_018368.4(LMBRD1):c.*125A>G
|
rs886061689
|
0.00013
|
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_000353.3(TAT):c.-7G>A
|
rs201879651
|
0.00012
|
NM_000481.4(AMT):c.961G>A (p.Val321Met)
|
rs149457059
|
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_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_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_000048.4(ASL):c.*286T>A
|
rs555884175
|
0.00011
|
NM_000048.4(ASL):c.-31G>A
|
rs766867890
|
0.00011
|
NM_000156.6(GAMT):c.707G>C (p.Gly236Ala)
|
rs201029006
|
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_000274.4(OAT):c.*561G>A
|
rs375454907
|
0.00011
|
NM_000274.4(OAT):c.478G>A (p.Val160Met)
|
rs148433929
|
0.00011
|
NM_000281.4(PCBD1):c.205G>A (p.Val69Met)
|
rs200188190
|
0.00011
|
NM_000360.4(TH):c.1383G>A (p.Pro461=)
|
rs552808212
|
0.00011
|
NM_000709.4(BCKDHA):c.448A>G (p.Asn150Asp)
|
rs140612545
|
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_001482.3(GATM):c.*799T>C
|
rs903173589
|
0.00011
|
NM_001918.5(DBT):c.*2088A>T
|
rs771850946
|
0.00011
|
NM_003124.5(SPR):c.115C>T (p.Leu39Phe)
|
rs777872233
|
0.00011
|
NM_004577.4(PSPH):c.*341G>A
|
rs886062387
|
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_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_058179.4(PSAT1):c.916C>T (p.Arg306Cys)
|
rs113824905
|
0.00011
|
NM_000071.3(CBS):c.1146-12C>T
|
rs199550738
|
0.00010
|
NM_000071.3(CBS):c.894G>A (p.Gln298=)
|
rs370514077
|
0.00010
|
NM_000137.4(FAH):c.648C>A (p.Ile216=)
|
rs147016995
|
0.00010
|
NM_000161.3(GCH1):c.586G>T (p.Ala196Ser)
|
rs104894436
|
0.00010
|
NM_000170.3(GLDC):c.2230G>A (p.Gly744Arg)
|
rs370061961
|
0.00010
|
NM_000277.3(PAH):c.280A>G (p.Ile94Val)
|
rs528078207
|
0.00010
|
NM_000320.3(QDPR):c.*31C>T
|
rs377243912
|
0.00010
|
NM_000320.3(QDPR):c.271G>T (p.Ala91Ser)
|
rs147257284
|
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_001080.3(ALDH5A1):c.*2861G>A
|
rs886061280
|
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_001918.5(DBT):c.*2851C>T
|
rs1023974357
|
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_012463.4(ATP6V0A2):c.*1454A>G
|
rs3748272
|
0.00010
|
NM_012463.4(ATP6V0A2):c.*3505A>G
|
rs868846588
|
0.00010
|
NM_012463.4(ATP6V0A2):c.920C>G (p.Ala307Gly)
|
rs752306671
|
0.00010
|
NM_018368.4(LMBRD1):c.*384A>C
|
rs536469891
|
0.00010
|
NM_000048.4(ASL):c.1270G>A (p.Val424Met)
|
rs368264870
|
0.00009
|
NM_000108.5(DLD):c.*1877A>G
|
rs182010485
|
0.00009
|
NM_000156.6(GAMT):c.662G>A (p.Arg221His)
|
rs766553422
|
0.00009
|
NM_000170.3(GLDC):c.-168G>A
|
rs891076552
|
0.00009
|
NM_000187.4(HGD):c.1206A>G (p.Ser402=)
|
rs140500816
|
0.00009
|
NM_000481.4(AMT):c.589G>C (p.Asp197His)
|
rs200550585
|
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_001352514.2(HLCS):c.1974dup (p.Val659fs)
|
rs767533946
|
0.00009
|
NM_001352514.2(HLCS):c.2432A>G (p.Tyr811Cys)
|
rs776535574
|
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_003748.4(ALDH4A1):c.-24G>A
|
rs886045707
|
0.00009
|
NM_003748.4(ALDH4A1):c.487G>A (p.Ala163Thr)
|
rs201780333
|
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.1524C>T (p.Val508=)
|
rs182439983
|
0.00009
|
NM_015702.3(MMADHC):c.-16A>G
|
rs144111552
|
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_032316.3(NICN1):c.*2177G>A
|
rs573551723
|
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_183050.4(BCKDHB):c.*466G>T
|
rs886061809
|
0.00009
|
NM_000048.4(ASL):c.1342G>A (p.Val448Ile)
|
rs139410488
|
0.00008
|
NM_000161.3(GCH1):c.509+3A>G
|
rs369661042
|
0.00008
|
NM_000320.3(QDPR):c.*278G>A
|
rs765235173
|
0.00008
|
NM_001080.3(ALDH5A1):c.*1139C>G
|
rs933728436
|
0.00008
|
NM_001080.3(ALDH5A1):c.*970C>T
|
rs886061273
|
0.00008
|
NM_001352514.2(HLCS):c.*1085G>A
|
rs531457233
|
0.00008
|
NM_001918.5(DBT):c.*3245G>A
|
rs1266134285
|
0.00008
|
NM_001918.5(DBT):c.*7469T>C
|
rs897269544
|
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_006623.3(PHGDH):c.-183G>A
|
rs886045202
|
0.00008
|
NM_012463.4(ATP6V0A2):c.*2454T>C
|
rs776825961
|
0.00008
|
NM_012463.4(ATP6V0A2):c.776G>A (p.Arg259Gln)
|
rs377561982
|
0.00008
|
NM_018368.4(LMBRD1):c.802G>A (p.Ala268Thr)
|
rs143758103
|
0.00008
|
NM_020686.6(ABAT):c.*959T>A
|
rs750089237
|
0.00008
|
NM_183050.4(BCKDHB):c.*569G>A
|
rs1000319023
|
0.00008
|
NM_183050.4(BCKDHB):c.*644C>T
|
rs535962304
|
0.00008
|
NM_000071.3(CBS):c.888G>A (p.Thr296=)
|
rs769593715
|
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.297C>T (p.Ala99=)
|
rs776450369
|
0.00007
|
NM_000360.4(TH):c.252G>A (p.Leu84=)
|
rs758016812
|
0.00007
|
NM_000709.4(BCKDHA):c.*384C>T
|
rs535473868
|
0.00007
|
NM_001080.3(ALDH5A1):c.*1658C>T
|
rs775036676
|
0.00007
|
NM_001352514.2(HLCS):c.*2416C>T
|
rs566088233
|
0.00007
|
NM_001482.3(GATM):c.1041C>T (p.Asp347=)
|
rs139599307
|
0.00007
|
NM_001918.5(DBT):c.*8074G>A
|
rs550751216
|
0.00007
|
NM_002150.3(HPD):c.*65A>G
|
rs931600760
|
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_003124.5(SPR):c.706G>A (p.Val236Met)
|
rs371904378
|
0.00007
|
NM_003748.4(ALDH4A1):c.490G>C (p.Ala164Pro)
|
rs369957092
|
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_005589.4(ALDH6A1):c.*1534G>A
|
rs1047039253
|
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_183050.4(BCKDHB):c.*2224T>A
|
rs1037438345
|
0.00007
|
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_000137.4(FAH):c.*138G>A
|
rs374613273
|
0.00006
|
NM_000156.6(GAMT):c.670G>A (p.Ala224Thr)
|
rs141471799
|
0.00006
|
NM_000161.3(GCH1):c.*1010C>T
|
rs764569623
|
0.00006
|
NM_000161.3(GCH1):c.*1257C>T
|
rs763425111
|
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_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.78G>C (p.Ser26=)
|
rs915226152
|
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_000274.4(OAT):c.*35C>T
|
rs750628344
|
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_000481.4(AMT):c.91-9C>T
|
rs761235679
|
0.00006
|
NM_001080.3(ALDH5A1):c.525C>T (p.Tyr175=)
|
rs372455508
|
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_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_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_002860.4(ALDH18A1):c.2335A>G (p.Ser779Gly)
|
rs143874727
|
0.00006
|
NM_003124.5(SPR):c.*400C>T
|
rs886056289
|
0.00006
|
NM_003124.5(SPR):c.328G>C (p.Gly110Arg)
|
rs201651366
|
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_004577.4(PSPH):c.*278C>T
|
rs183424432
|
0.00006
|
NM_004577.4(PSPH):c.-145-15A>G
|
rs552907219
|
0.00006
|
NM_005589.4(ALDH6A1):c.*377C>A
|
rs886050729
|
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.2333G>T (p.Gly778Val)
|
rs762614200
|
0.00006
|
NM_012463.4(ATP6V0A2):c.603C>T (p.Ile201=)
|
rs181112338
|
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_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.*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_058179.4(PSAT1):c.*789A>G
|
rs1057515674
|
0.00006
|
NM_183050.4(BCKDHB):c.*1908A>G
|
rs368380717
|
0.00006
|
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_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.270G>C (p.Leu90Phe)
|
rs747736821
|
0.00005
|
NM_000170.3(GLDC):c.886C>A (p.Leu296Ile)
|
rs200413149
|
0.00005
|
NM_000277.3(PAH):c.350C>T (p.Thr117Ile)
|
rs281865439
|
0.00005
|
NM_000317.3(PTS):c.132C>T (p.Asn44=)
|
rs763556416
|
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_000709.4(BCKDHA):c.*126G>A
|
rs748757436
|
0.00005
|
NM_001080.3(ALDH5A1):c.*1918G>A
|
rs559549612
|
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_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_002150.3(HPD):c.836G>A (p.Arg279His)
|
rs140144597
|
0.00005
|
NM_002150.3(HPD):c.914C>T (p.Thr305Met)
|
rs200010805
|
0.00005
|
NM_003124.5(SPR):c.536T>C (p.Met179Thr)
|
rs780440681
|
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_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_058179.4(PSAT1):c.370G>A (p.Val124Ile)
|
rs140897665
|
0.00005
|
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_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.*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_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_000187.4(HGD):c.*145C>T
|
rs1011081332
|
0.00004
|
NM_000187.4(HGD):c.177-5T>C
|
rs768308376
|
0.00004
|
NM_000274.3(OAT):c.-104T>C
|
rs886046813
|
0.00004
|
NM_000317.3(PTS):c.*16T>C
|
rs760097954
|
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.599G>A (p.Arg200His)
|
rs201224335
|
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_000709.4(BCKDHA):c.*213G>A
|
rs766667517
|
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_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.589G>A (p.Val197Met)
|
rs768219929
|
0.00004
|
NM_001080.3(ALDH5A1):c.924C>T (p.Gly308=)
|
rs188108571
|
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.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_001482.3(GATM):c.1030A>G (p.Ile344Val)
|
rs747608698
|
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_002150.3(HPD):c.5C>T (p.Thr2Met)
|
rs774495352
|
0.00004
|
NM_002150.3(HPD):c.915G>A (p.Thr305=)
|
rs751753975
|
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_003124.5(SPR):c.-4G>C
|
rs778710354
|
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_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_005589.4(ALDH6A1):c.646G>A (p.Gly216Arg)
|
rs199899407
|
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_015702.3(MMADHC):c.696+13C>A
|
rs199528296
|
0.00004
|
NM_018368.4(LMBRD1):c.1501T>C (p.Phe501Leu)
|
rs776133587
|
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.-127C>G
|
rs937622924
|
0.00004
|
NM_020686.6(ABAT):c.555G>A (p.Gly185=)
|
rs147765799
|
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_000048.4(ASL):c.155C>T (p.Ala52Val)
|
rs886062405
|
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_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.20C>A (p.Thr7Asn)
|
rs761687649
|
0.00003
|
NM_000156.6(GAMT):c.622C>T (p.Arg208Cys)
|
rs778279369
|
0.00003
|
NM_000161.3(GCH1):c.*507C>G
|
rs886050547
|
0.00003
|
NM_000161.3(GCH1):c.509+8T>A
|
rs753570450
|
0.00003
|
NM_000170.3(GLDC):c.*345G>T
|
rs1383579539
|
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_000187.3(HGD):c.-446G>T
|
rs541656880
|
0.00003
|
NM_000187.4(HGD):c.-100G>A
|
rs547960368
|
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_000274.4(OAT):c.314T>C (p.Val105Ala)
|
rs199957428
|
0.00003
|
NM_000277.3(PAH):c.71A>G (p.Tyr24Cys)
|
rs539994406
|
0.00003
|
NM_000317.3(PTS):c.370G>T (p.Val124Leu)
|
rs150726932
|
0.00003
|
NM_000320.3(QDPR):c.359A>G (p.His120Arg)
|
rs148369556
|
0.00003
|
NM_000353.3(TAT):c.*252C>G
|
rs886052269
|
0.00003
|
NM_000353.3(TAT):c.*81G>A
|
rs886052272
|
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_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_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.583A>G (p.Ile195Val)
|
rs759237061
|
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_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_001482.3(GATM):c.1159+14A>G
|
rs368974196
|
0.00003
|
NM_001918.5(DBT):c.*2271A>C
|
rs768839953
|
0.00003
|
NM_001918.5(DBT):c.*488G>A
|
rs778739081
|
0.00003
|
NM_002150.3(HPD):c.1108G>A (p.Ala370Thr)
|
rs142321451
|
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_003748.3(ALDH4A1):c.-65G>C
|
rs878956441
|
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_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.1096C>T (p.Pro366Ser)
|
rs372416067
|
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_015702.3(MMADHC):c.*267T>C
|
rs546054980
|
0.00003
|
NM_018368.4(LMBRD1):c.417G>A (p.Thr139=)
|
rs934259733
|
0.00003
|
NM_020686.6(ABAT):c.*1826C>T
|
rs886052441
|
0.00003
|
NM_020686.6(ABAT):c.*3059C>T
|
rs886052449
|
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_058179.4(PSAT1):c.*241C>A
|
rs1057515673
|
0.00003
|
NM_058179.4(PSAT1):c.1111T>C (p.Ter371Arg)
|
rs756701004
|
0.00003
|
NM_058179.4(PSAT1):c.43G>C (p.Ala15Pro)
|
rs774962204
|
0.00003
|
NM_183050.4(BCKDHB):c.33_34del (p.Leu12fs)
|
rs398124572
|
0.00003
|
NM_000048.4(ASL):c.243G>C (p.Leu81=)
|
rs774204716
|
0.00002
|
NM_000071.3(CBS):c.301C>G (p.Leu101Val)
|
rs369644531
|
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_000170.3(GLDC):c.*546C>T
|
rs768890473
|
0.00002
|
NM_000170.3(GLDC):c.142G>T (p.Gly48Trp)
|
rs1057515608
|
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_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_000481.4(AMT):c.503G>C (p.Arg168Thr)
|
rs200058579
|
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_001080.3(ALDH5A1):c.*2720C>A
|
rs560949465
|
0.00002
|
NM_001080.3(ALDH5A1):c.1320C>T (p.Phe440=)
|
rs771829991
|
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_001482.3(GATM):c.494G>A (p.Ser165Asn)
|
rs780398292
|
0.00002
|
NM_001482.3(GATM):c.644A>G (p.Lys215Arg)
|
rs759012962
|
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_002150.2(HPD):c.*202T>A
|
rs1352129485
|
0.00002
|
NM_002150.3(HPD):c.93+9C>T
|
rs542121054
|
0.00002
|
NM_002860.4(ALDH18A1):c.2098G>A (p.Val700Ile)
|
rs375705932
|
0.00002
|
NM_003124.5(SPR):c.380A>G (p.Asn127Ser)
|
rs755878397
|
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_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_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_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_018368.4(LMBRD1):c.897C>T (p.Gly299=)
|
rs757392138
|
0.00002
|
NM_020686.6(ABAT):c.*2794C>G
|
rs886052447
|
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_032316.3(NICN1):c.*2157G>A
|
rs1244431682
|
0.00002
|
NM_058179.4(PSAT1):c.398-14G>A
|
rs202026355
|
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_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.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_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_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.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_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.701A>G (p.Gln234Arg)
|
rs776639131
|
0.00001
|
NM_000170.3(GLDC):c.96G>T (p.Pro32=)
|
rs1430526811
|
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_000274.4(OAT):c.*189A>G
|
rs886046809
|
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_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.786C>T (p.Val262=)
|
rs776860902
|
0.00001
|
NM_000281.4(PCBD1):c.*107C>T
|
rs1846535672
|
0.00001
|
NM_000281.4(PCBD1):c.*116C>T
|
rs544135564
|
0.00001
|
NM_000317.3(PTS):c.*213A>G
|
rs916945270
|
0.00001
|
NM_000317.3(PTS):c.46C>T (p.Arg16Cys)
|
rs104894274
|
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_000353.3(TAT):c.*1055A>G
|
rs886052265
|
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.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.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_000411.8(HLCS):c.-393+7C>T
|
rs886057081
|
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_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.*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_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_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_001482.3(GATM):c.*713T>A
|
rs1889360907
|
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_002150.3(HPD):c.765T>C (p.Tyr255=)
|
rs767720774
|
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_003124.5(SPR):c.*607A>C
|
rs1176601691
|
0.00001
|
NM_003124.5(SPR):c.23C>T (p.Ala8Val)
|
rs775850923
|
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_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_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.763-9T>C
|
rs780824505
|
0.00001
|
NM_012463.4(ATP6V0A2):c.*2039C>G
|
rs886049069
|
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.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_015702.3(MMADHC):c.244T>G (p.Cys82Gly)
|
rs760590651
|
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_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_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.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_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_000048.4(ASL):c.-44+9G>A
|
rs558890925
|
|
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.917G>C (p.Arg306Pro)
|
rs755245694
|
|
NM_000071.2(CBS):c.-242T>C
|
rs1983687076
|
|
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.*80C>T
|
rs141447394
|
|
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.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_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.*498T>G
|
rs886061911
|
|
NM_000108.5(DLD):c.*898C>T
|
rs2032373871
|
|
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_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.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.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.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.*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.*727A>G
|
rs138578359
|
|
NM_000161.3(GCH1):c.*830A>T
|
rs542811477
|
|
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.507G>C (p.Ala169=)
|
rs150158277
|
|
NM_000161.3(GCH1):c.626+9G>T
|
rs374007793
|
|
NM_000170.3(GLDC):c.*378G>T
|
rs907978914
|
|
NM_000170.3(GLDC):c.*410G>A
|
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.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.2402G>A (p.Ser801Asn)
|
rs1817555894
|
|
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_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.474G>A (p.Pro158=)
|
rs2293734
|
|
NM_000187.4(HGD):c.48A>G (p.Ser16=)
|
rs886057818
|
|
NM_000187.4(HGD):c.880-4A>G
|
rs781667761
|
|
NM_000274.4(OAT):c.*275A>G
|
rs886046808
|
|
NM_000274.4(OAT):c.-30+11G>A
|
rs886046811
|
|
NM_000274.4(OAT):c.-66A>G
|
rs1387021384
|
|
NM_000274.4(OAT):c.110C>T (p.Pro37Leu)
|
rs747742850
|
|
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_000277.2(PAH):c.-232C>G
|
rs886048893
|
|
NM_000277.3(PAH):c.*772_*775del
|
rs551502562
|
|
NM_000277.3(PAH):c.-73C>G
|
rs886048891
|
|
NM_000277.3(PAH):c.1089G>C (p.Lys363Asn)
|
rs63329263
|
|
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.897T>C (p.Phe299=)
|
rs886048890
|
|
NM_000277.3(PAH):c.912G>A (p.Gln304=)
|
rs199475583
|
|
NM_000281.4(PCBD1):c.-15G>C
|
rs886047114
|
|
NM_000317.3(PTS):c.*148C>A
|
rs910098440
|
|
NM_000317.3(PTS):c.*58G>C
|
rs1307423080
|
|
NM_000317.3(PTS):c.340A>G (p.Ile114Val)
|
rs1555198495
|
|
NM_000317.3(PTS):c.83+1G>A
|
rs927103678
|
|
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.-17G>T
|
rs560782260
|
|
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_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_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.339+3G>A
|
rs752570901
|
|
NM_000481.4(AMT):c.471+12_471+13del
|
rs370772505
|
|
NM_000481.4(AMT):c.513C>T (p.Gly171=)
|
rs555045517
|
|
NM_000481.4(AMT):c.86C>T (p.Ala29Val)
|
rs2049122995
|
|
NM_000687.3(AHCY):c.-107G>A
|
rs886056637
|
|
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.143T>C (p.Leu48Pro)
|
rs879103338
|
|
NM_000709.4(BCKDHA):c.441C>G (p.Ala147=)
|
rs2039284438
|
|
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_001080.3(ALDH5A1):c.*1322C>T
|
rs886061276
|
|
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.*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.782G>A (p.Arg261Gln)
|
rs772361710
|
|
NM_001080.3(ALDH5A1):c.948T>G (p.Phe316Leu)
|
rs1172837609
|
|
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.*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.1535G>A (p.Arg512Lys)
|
rs747688148
|
|
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_001482.2(GATM):c.-171T>C
|
rs886051204
|
|
NM_001482.3(GATM):c.*104A>G
|
rs886051201
|
|
NM_001482.3(GATM):c.*272C>T
|
rs1889369976
|
|
NM_001482.3(GATM):c.*555A>G
|
rs1889364313
|
|
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_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.*2633AAAT[5]
|
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.*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_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_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.-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.819C>T (p.Asp273=)
|
rs752470665
|
|
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_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.*776C>T
|
rs1034579513
|
|
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_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.-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_005334.3(HCFC1):c.1355C>T (p.Ala452Val)
|
rs868948937
|
|
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.*43C>G
|
rs545399557
|
|
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[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.856G>T (p.Ala286Ser)
|
rs1328953759
|
|
NM_005589.4(ALDH6A1):c.874_877dup (p.Met293fs)
|
rs751748364
|
|
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_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.*2771A>G
|
rs1026356999
|
|
NM_012463.4(ATP6V0A2):c.*2782C>A
|
rs183280767
|
|
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_015702.3(MMADHC):c.-136G>C
|
rs1682898571
|
|
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_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.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_020686.5(ABAT):c.-150C>A
|
rs886052387
|
|
NM_020686.6(ABAT):c.*1051C>T
|
rs1275277312
|
|
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>C
|
rs1061842
|
|
NM_020686.6(ABAT):c.*1698C>G
|
rs2060477590
|
|
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.*259G>A
|
rs886052433
|
|
NM_020686.6(ABAT):c.*2698C>G
|
rs922229332
|
|
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[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_032316.3(NICN1):c.*2266dup
|
rs886058684
|
|
NM_032316.3(NICN1):c.*2283C>G
|
rs192377809
|
|
NM_032316.3(NICN1):c.*2283C>T
|
rs192377809
|
|
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_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.*501A>G
|
rs1770079109
|
|
NM_183050.4(BCKDHB):c.*540T>C
|
rs201154827
|
|
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
|
|