ClinVar Miner

List of variants reported as uncertain significance for amino acid metabolism disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (117):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1641
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HGVS dbSNP gnomAD frequency
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

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