ClinVar Miner

List of variants reported as uncertain significance for amino acid metabolism disease by Natera, Inc.

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2419
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HGVS dbSNP gnomAD frequency
NM_001142800.2(EYS):c.5601T>C (p.Ser1867=) rs182322608 0.00464
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr) rs151268759 0.00419
NM_201548.5(CERKL):c.313C>T (p.Arg105Trp) rs149078111 0.00370
NM_001142800.2(EYS):c.2500G>A (p.Val834Ile) rs112464110 0.00293
NM_001142800.2(EYS):c.7697G>A (p.Gly2566Glu) rs115058877 0.00293
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys) rs117687681 0.00255
NM_003982.4(SLC7A7):c.1380C>G (p.Ile460Met) rs139415285 0.00235
NM_020166.5(MCCC1):c.*1A>T rs115605600 0.00230
NM_001142800.2(EYS):c.788A>G (p.His263Arg) rs139517572 0.00213
NM_001876.4(CPT1A):c.2198A>G (p.Asn733Ser) rs151271754 0.00205
NM_005957.5(MTHFR):c.1555C>T (p.Arg519Cys) rs45496998 0.00176
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu) rs151071780 0.00167
NM_001142800.2(EYS):c.6535A>G (p.Ile2179Val) rs148019592 0.00165
NM_000018.4(ACADVL):c.1678+23C>T rs147546456 0.00163
NM_000532.5(PCCB):c.774C>G (p.His258Gln) rs141615209 0.00163
NM_001142800.2(EYS):c.6632C>T (p.Ser2211Leu) rs145623359 0.00148
NM_001201543.2(FAM161A):c.2064T>C (p.Ile688=) rs138464813 0.00145
NM_000137.4(FAH):c.1098G>A (p.Ser366=) rs35033541 0.00137
NM_022132.5(MCCC2):c.1322T>C (p.Ile441Thr) rs139852818 0.00137
NM_052845.4(MMAB):c.-4G>C rs372195202 0.00134
NM_001142800.2(EYS):c.6547A>G (p.Ser2183Gly) rs368458853 0.00133
NM_001142800.2(EYS):c.5474C>A (p.Thr1825Asn) rs182151153 0.00132
NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser) rs150966847 0.00131
NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly) rs188093810 0.00124
NM_022132.5(MCCC2):c.450G>C (p.Val150=) rs151098534 0.00121
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala) rs147370143 0.00117
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln) rs138246328 0.00116
NM_000137.4(FAH):c.565G>A (p.Val189Ile) rs145389125 0.00108
NM_001875.5(CPS1):c.637G>A (p.Gly213Ser) rs138392504 0.00102
NM_000016.6(ACADM):c.994C>T (p.Leu332=) rs138098371 0.00093
NM_001876.4(CPT1A):c.853A>C (p.Lys285Gln) rs77477448 0.00093
NM_002225.5(IVD):c.164A>T (p.Lys55Met) rs145999491 0.00093
NM_000137.4(FAH):c.1205G>A (p.Arg402His) rs147796599 0.00092
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528 0.00088
NM_000282.4(PCCA):c.2040+11dup rs779884567 0.00087
NM_183050.4(BCKDHB):c.633G>C (p.Lys211Asn) rs143427811 0.00086
NM_052845.4(MMAB):c.394T>C (p.Cys132Arg) rs147457956 0.00085
NM_001142800.2(EYS):c.4891C>T (p.Pro1631Ser) rs200935518 0.00083
NM_006623.4(PHGDH):c.682G>T (p.Gly228Trp) rs139063843 0.00083
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly) rs35068278 0.00082
NM_000159.4(GCDH):c.471C>T (p.Ser157=) rs146682905 0.00081
NM_001142800.2(EYS):c.6284C>T (p.Pro2095Leu) rs200374024 0.00081
NM_001875.5(CPS1):c.2192+6A>T rs201058019 0.00081
NM_001876.4(CPT1A):c.961G>A (p.Glu321Lys) rs114030714 0.00081
NM_000108.5(DLD):c.788G>A (p.Arg263His) rs145670503 0.00080
NM_000170.3(GLDC):c.2863G>A (p.Val955Ile) rs148540696 0.00078
NM_000532.5(PCCB):c.911C>T (p.Thr304Ile) rs147538201 0.00076
NM_201548.5(CERKL):c.1523C>T (p.Ser508Leu) rs146913105 0.00076
NM_001142800.2(EYS):c.3694A>T (p.Ile1232Phe) rs190009374 0.00075
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met) rs138480247 0.00075
NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln) rs139306043 0.00074
NM_172250.3(MMAA):c.966A>G (p.Pro322=) rs150692463 0.00073
NM_000282.4(PCCA):c.1896A>G (p.Thr632=) rs61760965 0.00071
NM_001142800.2(EYS):c.2109C>T (p.Tyr703=) rs377090818 0.00071
NM_000277.3(PAH):c.30C>G (p.Gly10=) rs1801145 0.00069
NM_001243279.3(ACSF3):c.*4G>A rs184912682 0.00069
NM_001142800.2(EYS):c.5615T>C (p.Ile1872Thr) rs201333192 0.00068
NM_020166.5(MCCC1):c.1337C>T (p.Ala446Val) rs144182725 0.00068
NM_001243279.3(ACSF3):c.823-4G>C rs558325262 0.00067
NM_015702.3(MMADHC):c.455C>G (p.Thr152Arg) rs146795035 0.00067
NM_000018.4(ACADVL):c.1567G>A (p.Gly523Arg) rs139425622 0.00066
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272 0.00066
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser) rs139203363 0.00066
NM_020166.5(MCCC1):c.1492C>T (p.Leu498Phe) rs139926581 0.00066
NM_001875.5(CPS1):c.1039G>T (p.Ala347Ser) rs148584272 0.00064
NM_020166.5(MCCC1):c.984A>T (p.Lys328Asn) rs142513139 0.00064
NM_000170.3(GLDC):c.2730G>A (p.Ser910=) rs144937031 0.00061
NM_001142800.2(EYS):c.1459+5C>T rs200387978 0.00061
NM_001243279.3(ACSF3):c.633C>T (p.Gly211=) rs140941507 0.00061
NM_001875.5(CPS1):c.713G>A (p.Arg238Gln) rs147294932 0.00060
NM_002454.3(MTRR):c.1021G>A (p.Val341Ile) rs74790259 0.00059
NM_003060.4(SLC22A5):c.414C>T (p.Asp138=) rs150705788 0.00059
NM_000277.3(PAH):c.289A>C (p.Ile97Leu) rs142516271 0.00057
NM_001142800.2(EYS):c.740C>T (p.Pro247Leu) rs367977860 0.00056
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser) rs149017703 0.00056
NM_001142800.2(EYS):c.7034G>A (p.Arg2345His) rs201304559 0.00055
NM_015702.3(MMADHC):c.414A>C (p.Glu138Asp) rs113390214 0.00055
NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg) rs145628302 0.00054
NM_000532.5(PCCB):c.763+10C>G rs180982841 0.00054
NM_001142800.2(EYS):c.716C>T (p.Ala239Val) rs150140204 0.00054
NM_201548.5(CERKL):c.589G>T (p.Ala197Ser) rs151110889 0.00053
NM_014251.3(SLC25A13):c.1618C>T (p.Pro540Ser) rs75622628 0.00052
NM_000016.6(ACADM):c.666C>A (p.Phe222Leu) rs139457557 0.00051
NM_001875.5(CPS1):c.1021T>G (p.Leu341Val) rs138424013 0.00049
NM_020166.5(MCCC1):c.2009C>T (p.Ala670Val) rs138937107 0.00049
NM_052845.4(MMAB):c.620C>T (p.Ala207Val) rs61739388 0.00048
NM_001142800.2(EYS):c.5566C>T (p.Arg1856Trp) rs116561042 0.00047
NM_000108.5(DLD):c.100A>G (p.Thr34Ala) rs138002793 0.00045
NM_022132.5(MCCC2):c.995G>A (p.Arg332Gln) rs144203670 0.00045
NM_000282.4(PCCA):c.1002C>T (p.Thr334=) rs150106872 0.00044
NM_201548.5(CERKL):c.362C>T (p.Thr121Ile) rs143157602 0.00044
NM_000709.4(BCKDHA):c.288C>T (p.His96=) rs148571328 0.00043
NM_001875.5(CPS1):c.154G>A (p.Asp52Asn) rs141481633 0.00043
NM_001370658.1(BTD):c.68A>G (p.His23Arg) rs146011150 0.00042
NM_022132.5(MCCC2):c.90G>T (p.Ser30=) rs559384926 0.00041
NM_000532.5(PCCB):c.914T>G (p.Ile305Ser) rs144907014 0.00040
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp) rs146379816 0.00039
NM_001875.5(CPS1):c.2909A>G (p.Asn970Ser) rs150485422 0.00039
NM_003060.4(SLC22A5):c.1451G>T (p.Gly484Val) rs28383480 0.00039
NM_003060.4(SLC22A5):c.272A>G (p.Asn91Ser) rs546442503 0.00039
NM_003982.4(SLC7A7):c.999G>A (p.Arg333=) rs146720775 0.00039
NM_183050.4(BCKDHB):c.411G>A (p.Ala137=) rs142858149 0.00039
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys) rs151254520 0.00038
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_201548.5(CERKL):c.97T>G (p.Leu33Val) rs554167374 0.00038
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_000282.4(PCCA):c.2055A>G (p.Gln685=) rs147568036 0.00036
NM_000709.4(BCKDHA):c.664G>A (p.Ala222Thr) rs141086188 0.00036
NM_001876.4(CPT1A):c.930G>C (p.Arg310=) rs147373480 0.00036
NM_000018.4(ACADVL):c.1581G>A (p.Pro527=) rs149436747 0.00035
NM_000018.4(ACADVL):c.286G>A (p.Glu96Lys) rs139427392 0.00035
NM_000277.3(PAH):c.299A>G (p.His100Arg) rs148393887 0.00035
NM_000282.4(PCCA):c.2037C>T (p.Asp679=) rs146870931 0.00035
NM_003060.4(SLC22A5):c.605T>C (p.Leu202Pro) rs142447950 0.00035
NM_000018.4(ACADVL):c.587C>T (p.Ala196Val) rs201370388 0.00034
NM_000170.3(GLDC):c.698T>C (p.Val233Ala) rs140013612 0.00034
NM_000182.5(HADHA):c.2113G>A (p.Val705Ile) rs146406360 0.00034
NM_001142800.2(EYS):c.3568+5T>C rs539477235 0.00034
NM_001142800.2(EYS):c.4121G>A (p.Arg1374Gln) rs142187896 0.00034
NM_001142800.2(EYS):c.4363A>G (p.Ile1455Val) rs183144150 0.00034
NM_001201543.2(FAM161A):c.982A>G (p.Ile328Val) rs192680593 0.00034
NM_001243279.3(ACSF3):c.857G>A (p.Arg286Gln) rs371654377 0.00034
NM_022132.5(MCCC2):c.1374-10C>T rs766032118 0.00034
NM_003982.4(SLC7A7):c.91G>C (p.Val31Leu) rs142956369 0.00033
NM_014252.4(SLC25A15):c.632C>T (p.Pro211Leu) rs139034961 0.00033
NM_020166.5(MCCC1):c.1705A>T (p.Asn569Tyr) rs148332041 0.00033
NM_022132.5(MCCC2):c.738+9A>G rs776559643 0.00033
NM_000170.3(GLDC):c.2147T>A (p.Leu716His) rs145018304 0.00032
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_001142800.2(EYS):c.6318T>C (p.Asp2106=) rs193261187 0.00031
NM_001142800.2(EYS):c.7353A>C (p.Ala2451=) rs527812465 0.00031
NM_001142800.2(EYS):c.8789A>G (p.Asp2930Gly) rs201690244 0.00031
NM_001243279.3(ACSF3):c.43G>A (p.Ala15Thr) rs375374971 0.00031
NM_054012.4(ASS1):c.333C>T (p.Ala111=) rs141568959 0.00031
NM_172250.3(MMAA):c.393A>T (p.Arg131Ser) rs371714495 0.00031
NM_000019.4(ACAT1):c.1217A>G (p.Glu406Gly) rs147872303 0.00030
NM_001142800.2(EYS):c.1082T>C (p.Ile361Thr) rs201059400 0.00030
NM_006623.4(PHGDH):c.296C>G (p.Pro99Arg) rs182600362 0.00030
NM_000360.4(TH):c.406G>A (p.Val136Met) rs142046543 0.00029
NM_001142800.2(EYS):c.1512T>A (p.Ala504=) rs142178909 0.00029
NM_001142800.2(EYS):c.2596T>C (p.Cys866Arg) rs369966951 0.00029
NM_001142800.2(EYS):c.5988C>T (p.Cys1996=) rs370988507 0.00029
NM_005957.5(MTHFR):c.1719C>T (p.Thr573=) rs149585376 0.00029
NM_014252.4(SLC25A15):c.345C>T (p.Phe115=) rs35434090 0.00029
NM_015702.3(MMADHC):c.557T>C (p.Met186Thr) rs61755260 0.00029
NM_000531.6(OTC):c.941A>C (p.Glu314Ala) rs137899554 0.00028
NM_001142800.2(EYS):c.7044C>T (p.Gly2348=) rs369191457 0.00028
NM_054012.4(ASS1):c.1015G>A (p.Ala339Thr) rs145100866 0.00028
NM_000126.4(ETFA):c.20C>T (p.Pro7Leu) rs557160401 0.00027
NM_001875.5(CPS1):c.2275T>A (p.Ser759Thr) rs150012540 0.00027
NM_000156.6(GAMT):c.570+4C>T rs199967562 0.00026
NM_000282.4(PCCA):c.660C>T (p.Ala220=) rs145826296 0.00026
NM_000360.4(TH):c.594G>T (p.Val198=) rs544661832 0.00026
NM_000532.5(PCCB):c.82C>G (p.Leu28Val) rs141137691 0.00026
NM_001352514.2(HLCS):c.1073C>T (p.Thr358Met) rs142524025 0.00026
NM_001352514.2(HLCS):c.2465A>G (p.His822Arg) rs148868421 0.00026
NM_001876.4(CPT1A):c.693+7C>T rs370181471 0.00026
NM_006623.4(PHGDH):c.1471C>T (p.Arg491Trp) rs587731325 0.00026
NM_201548.5(CERKL):c.602C>G (p.Thr201Ser) rs142996023 0.00026
NM_001142800.2(EYS):c.2512C>T (p.Pro838Ser) rs112495229 0.00025
NM_002454.3(MTRR):c.906T>C (p.Asn302=) rs144729918 0.00025
NM_000156.6(GAMT):c.7G>A (p.Ala3Thr) rs574164748 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_001243279.3(ACSF3):c.1502-4G>A rs111414659 0.00024
NM_003060.4(SLC22A5):c.1010C>T (p.Thr337Ile) rs142479732 0.00024
NM_000360.4(TH):c.1349G>A (p.Arg450His) rs138291013 0.00023
NM_002454.3(MTRR):c.2071C>T (p.Arg691Cys) rs148414435 0.00023
NM_003060.4(SLC22A5):c.1643G>A (p.Arg548Lys) rs150775371 0.00023
NM_000071.3(CBS):c.1273G>A (p.Val425Met) rs138211175 0.00022
NM_000481.4(AMT):c.697-3C>T rs373703503 0.00022
NM_000532.5(PCCB):c.544-5G>C rs372351800 0.00022
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser) rs201023772 0.00022
NM_054012.4(ASS1):c.-4C>T rs138350285 0.00022
NM_000018.4(ACADVL):c.121G>A (p.Ala41Thr) rs367705640 0.00021
NM_000019.4(ACAT1):c.816G>T (p.Gln272His) rs139120939 0.00021
NM_000108.5(DLD):c.470C>G (p.Thr157Ser) rs142232609 0.00021
NM_000282.4(PCCA):c.2101G>C (p.Ala701Pro) rs143096615 0.00021
NM_001142800.2(EYS):c.2027C>T (p.Thr676Met) rs199944222 0.00021
NM_001142800.2(EYS):c.4991C>T (p.Thr1664Ile) rs561830314 0.00021
NM_001142800.2(EYS):c.7723+9T>C rs766087392 0.00021
NM_001875.5(CPS1):c.5C>T (p.Thr2Met) rs150314086 0.00021
NM_002225.5(IVD):c.408G>C (p.Gln136His) rs569537063 0.00021
NM_002454.3(MTRR):c.505G>A (p.Val169Met) rs147742177 0.00021
NM_020166.5(MCCC1):c.2171C>T (p.Ser724Leu) rs201806708 0.00021
NM_022132.5(MCCC2):c.1657A>G (p.Ile553Val) rs143156315 0.00021
NM_054012.4(ASS1):c.710A>G (p.Asn237Ser) rs565520844 0.00021
NM_000071.3(CBS):c.856A>G (p.Ile286Val) rs147040567 0.00020
NM_000182.5(HADHA):c.2131C>A (p.Pro711Thr) rs138966725 0.00020
NM_001142800.2(EYS):c.2470T>C (p.Cys824Arg) rs761721655 0.00020
NM_001243279.3(ACSF3):c.1704G>A (p.Ala568=) rs539500659 0.00020
NM_001876.4(CPT1A):c.1702G>T (p.Ala568Ser) rs1046804 0.00020
NM_000048.4(ASL):c.655+8G>A rs200203985 0.00019
NM_000071.3(CBS):c.397G>A (p.Asp133Asn) rs539326697 0.00019
NM_000274.4(OAT):c.107G>C (p.Gly36Ala) rs140786333 0.00019
NM_000709.4(BCKDHA):c.843C>T (p.Gly281=) rs371343548 0.00019
NM_001142800.2(EYS):c.2302T>A (p.Cys768Ser) rs374204063 0.00019
NM_001142800.2(EYS):c.2822G>T (p.Gly941Val) rs749101387 0.00019
NM_001142800.2(EYS):c.7751C>G (p.Thr2584Ser) rs557892188 0.00019
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp) rs138680796 0.00019
NM_001243279.3(ACSF3):c.497C>T (p.Pro166Leu) rs781425127 0.00019
NM_001243279.3(ACSF3):c.721G>A (p.Val241Met) rs145141190 0.00019
NM_003982.4(SLC7A7):c.1400A>T (p.Lys467Met) rs199522527 0.00019
NM_003982.4(SLC7A7):c.1405C>T (p.Pro469Ser) rs201550655 0.00019
NM_004453.4(ETFDH):c.1048C>T (p.Arg350Trp) rs375172942 0.00019
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu) rs201312386 0.00019
NM_054012.4(ASS1):c.299G>A (p.Arg100His) rs138279074 0.00019
NM_172250.3(MMAA):c.701C>T (p.Ala234Val) rs367609164 0.00019
NM_201548.5(CERKL):c.1237G>T (p.Val413Leu) rs145489428 0.00019
NM_201548.5(CERKL):c.1452G>C (p.Glu484Asp) rs146279858 0.00019
NM_001142800.2(EYS):c.2439C>T (p.Cys813=) rs367546131 0.00018
NM_001243279.3(ACSF3):c.129C>T (p.Ser43=) rs147915828 0.00018
NM_001243279.3(ACSF3):c.1613+3A>C rs373631805 0.00018
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln) rs147474255 0.00018
NM_201548.5(CERKL):c.134G>A (p.Arg45Gln) rs568128856 0.00018
NM_201548.5(CERKL):c.314G>A (p.Arg105Gln) rs529313774 0.00018
NM_000159.4(GCDH):c.952G>A (p.Asp318Asn) rs761135089 0.00017
NM_000170.3(GLDC):c.2307C>T (p.Pro769=) rs565834029 0.00017
NM_000282.4(PCCA):c.328G>C (p.Val110Leu) rs150788587 0.00017
NM_000360.4(TH):c.391T>G (p.Phe131Val) rs200536568 0.00017
NM_000481.4(AMT):c.363C>T (p.Asn121=) rs367604855 0.00017
NM_001142800.2(EYS):c.719A>G (p.Tyr240Cys) rs150502410 0.00017
NM_001876.4(CPT1A):c.851G>A (p.Arg284His) rs144866081 0.00017
NM_003982.4(SLC7A7):c.954A>T (p.Leu318Phe) rs201534081 0.00017
NM_000159.4(GCDH):c.627C>T (p.Thr209=) rs143172809 0.00016
NM_000170.3(GLDC):c.2024A>C (p.Asn675Thr) rs749513146 0.00016
NM_000182.5(HADHA):c.325G>A (p.Ala109Thr) rs368388214 0.00016
NM_000360.4(TH):c.585G>A (p.Ser195=) rs376615793 0.00016
NM_001142800.2(EYS):c.3695T>C (p.Ile1232Thr) rs146413074 0.00016
NM_001201543.2(FAM161A):c.2011A>G (p.Asn671Asp) rs370603613 0.00016
NM_001243279.3(ACSF3):c.1334G>A (p.Ser445Asn) rs142092069 0.00016
NM_001243279.3(ACSF3):c.358G>A (p.Gly120Ser) rs200703917 0.00016
NM_001876.4(CPT1A):c.337G>A (p.Gly113Ser) rs555444012 0.00016
NM_003060.4(SLC22A5):c.1043T>C (p.Ile348Thr) rs150544263 0.00016
NM_003060.4(SLC22A5):c.791C>T (p.Thr264Met) rs201262157 0.00016
NM_003982.4(SLC7A7):c.916G>C (p.Gly306Arg) rs144264145 0.00016
NM_201548.5(CERKL):c.1160-10T>G rs771126203 0.00016
NM_001201543.2(FAM161A):c.1061G>A (p.Arg354Gln) rs369115510 0.00015
NM_005957.5(MTHFR):c.1720G>A (p.Val574Ile) rs202153689 0.00015
NM_014252.4(SLC25A15):c.277C>T (p.Arg93Trp) rs200014560 0.00015
NM_020166.5(MCCC1):c.1894C>T (p.Pro632Ser) rs142867987 0.00015
NM_022132.5(MCCC2):c.701G>A (p.Arg234His) rs202100813 0.00015
NM_022132.5(MCCC2):c.746C>T (p.Ala249Val) rs141676987 0.00015
NM_000156.6(GAMT):c.22C>A (p.Pro8Thr) rs776498025 0.00014
NM_000170.3(GLDC):c.110G>A (p.Ser37Asn) rs763471932 0.00014
NM_000170.3(GLDC):c.1974C>A (p.Ala658=) rs534062853 0.00014
NM_000274.4(OAT):c.517G>A (p.Ala173Thr) rs372152657 0.00014
NM_000709.4(BCKDHA):c.1195C>T (p.Arg399Trp) rs760281271 0.00014
NM_001142800.2(EYS):c.6436T>C (p.Phe2146Leu) rs545408886 0.00014
NM_001201543.2(FAM161A):c.1270G>A (p.Val424Ile) rs377666612 0.00014
NM_001201543.2(FAM161A):c.2065G>T (p.Asp689Tyr) rs191862300 0.00014
NM_001243279.3(ACSF3):c.1613+8T>G rs1358602745 0.00014
NM_001352514.2(HLCS):c.1843G>C (p.Val615Leu) rs376210604 0.00014
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr) rs181396238 0.00014
NM_001875.5(CPS1):c.2236C>A (p.Pro746Thr) rs139740322 0.00014
NM_005957.5(MTHFR):c.1162C>T (p.Arg388Cys) rs200138092 0.00014
NM_005957.5(MTHFR):c.903G>A (p.Leu301=) rs147979890 0.00014
NM_015506.3(MMACHC):c.770C>T (p.Pro257Leu) rs201601241 0.00014
NM_022132.5(MCCC2):c.114C>G (p.Gly38=) rs750638270 0.00014
NM_052845.4(MMAB):c.503C>T (p.Thr168Met) rs200690789 0.00014
NM_054012.4(ASS1):c.351C>T (p.Gly117=) rs2228429 0.00014
NM_205861.3(DHDDS):c.990T>C (p.Thr330=) rs773902080 0.00014
NM_000016.6(ACADM):c.508G>T (p.Ala170Ser) rs763613689 0.00013
NM_000071.3(CBS):c.1072G>A (p.Val358Met) rs148589243 0.00013
NM_000071.3(CBS):c.670C>T (p.Arg224Cys) rs139456571 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_000274.4(OAT):c.546G>T (p.Leu182Phe) rs144763058 0.00013
NM_000360.4(TH):c.*9C>T rs762091461 0.00013
NM_000531.6(OTC):c.83G>A (p.Gly28Glu) rs199858968 0.00013
NM_001201543.2(FAM161A):c.494A>G (p.Gln165Arg) rs201088869 0.00013
NM_001243279.3(ACSF3):c.1398C>T (p.Tyr466=) rs200146632 0.00013
NM_001352514.2(HLCS):c.1550C>T (p.Thr517Ile) rs575286749 0.00013
NM_001875.5(CPS1):c.121G>T (p.Val41Phe) rs148708735 0.00013
NM_015506.3(MMACHC):c.584G>C (p.Gly195Ala) rs754862915 0.00013
NM_015702.3(MMADHC):c.10-9C>G rs376032730 0.00013
NM_054012.4(ASS1):c.241G>A (p.Ala81Thr) rs141640176 0.00013
NM_153006.3(NAGS):c.1234C>T (p.Arg412Cys) rs201703838 0.00013
NM_000018.4(ACADVL):c.1873C>G (p.Pro625Ala) rs377044444 0.00012
NM_000019.4(ACAT1):c.1003A>G (p.Met335Val) rs369440498 0.00012
NM_000071.3(CBS):c.1642C>T (p.Arg548Trp) rs766444814 0.00012
NM_000108.5(DLD):c.549G>A (p.Thr183=) rs150630885 0.00012
NM_000137.4(FAH):c.715A>T (p.Ile239Phe) rs144228661 0.00012
NM_000182.5(HADHA):c.1217A>G (p.Lys406Arg) rs552191498 0.00012
NM_000191.3(HMGCL):c.419A>G (p.Asn140Ser) rs148032473 0.00012
NM_000360.4(TH):c.91-868C>T rs148235227 0.00012
NM_000532.5(PCCB):c.23C>T (p.Ala8Val) rs764602019 0.00012
NM_000532.5(PCCB):c.250A>G (p.Met84Val) rs201950515 0.00012
NM_001142800.2(EYS):c.455T>C (p.Met152Thr) rs771768413 0.00012
NM_001142800.2(EYS):c.7441G>A (p.Gly2481Ser) rs774918307 0.00012
NM_001243279.3(ACSF3):c.1643C>T (p.Ser548Leu) rs139520739 0.00012
NM_001243279.3(ACSF3):c.42C>T (p.Cys14=) rs756300619 0.00012
NM_001243279.3(ACSF3):c.545C>T (p.Pro182Leu) rs145470870 0.00012
NM_001243279.3(ACSF3):c.796A>G (p.Met266Val) rs141607995 0.00012
NM_001352514.2(HLCS):c.2345A>G (p.Tyr782Cys) rs200453837 0.00012
NM_001370658.1(BTD):c.653G>C (p.Gly218Ala) rs144901367 0.00012
NM_002454.3(MTRR):c.973C>A (p.Gln325Lys) rs138098668 0.00012
NM_014252.4(SLC25A15):c.706A>G (p.Arg236Gly) rs142236568 0.00012
NM_020166.5(MCCC1):c.1561G>A (p.Ala521Thr) rs149957640 0.00012
NM_022132.5(MCCC2):c.137A>G (p.Tyr46Cys) rs144578800 0.00012
NM_052845.4(MMAB):c.584+6A>G rs767719463 0.00012
NM_201548.5(CERKL):c.1316G>A (p.Arg439Gln) rs553792277 0.00012
NM_205861.3(DHDDS):c.387G>C (p.Leu129Phe) rs372256981 0.00012
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala) rs904631654 0.00011
NM_000048.4(ASL):c.1047C>G (p.Val349=) rs187877947 0.00011
NM_000071.3(CBS):c.221C>T (p.Pro74Leu) rs762862715 0.00011
NM_000126.4(ETFA):c.-9G>T rs754953251 0.00011
NM_000156.6(GAMT):c.707G>C (p.Gly236Ala) rs201029006 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_000191.3(HMGCL):c.340G>A (p.Glu114Lys) rs200955062 0.00011
NM_000191.3(HMGCL):c.56G>C (p.Arg19Pro) rs377359610 0.00011
NM_000274.4(OAT):c.478G>A (p.Val160Met) rs148433929 0.00011
NM_000531.6(OTC):c.140A>C (p.Asn47Thr) rs67939655 0.00011
NM_001142800.2(EYS):c.1349A>C (p.Asn450Thr) rs138255012 0.00011
NM_001142800.2(EYS):c.1382G>A (p.Cys461Tyr) rs76754818 0.00011
NM_001142800.2(EYS):c.3832G>T (p.Ala1278Ser) rs775270768 0.00011
NM_001142800.2(EYS):c.3858C>T (p.Asp1286=) rs374941270 0.00011
NM_001142800.2(EYS):c.4565A>G (p.Asn1522Ser) rs539577250 0.00011
NM_001243279.3(ACSF3):c.145C>T (p.Arg49Cys) rs141518662 0.00011
NM_001243279.3(ACSF3):c.278T>A (p.Leu93His) rs143605434 0.00011
NM_001243279.3(ACSF3):c.561C>T (p.Val187=) rs113731967 0.00011
NM_001243279.3(ACSF3):c.625C>G (p.Pro209Ala) rs201953109 0.00011
NM_001352514.2(HLCS):c.2416G>A (p.Val806Ile) rs368124997 0.00011
NM_001876.4(CPT1A):c.2235G>A (p.Thr745=) rs202208941 0.00011
NM_004453.4(ETFDH):c.1277A>G (p.Lys426Arg) rs200611086 0.00011
NM_005957.5(MTHFR):c.400C>T (p.Arg134Cys) rs45550133 0.00011
NM_006623.4(PHGDH):c.1346A>G (p.Asn449Ser) rs141662984 0.00011
NM_014049.5(ACAD9):c.442A>G (p.Ile148Val) rs202119704 0.00011
NM_014252.4(SLC25A15):c.216C>T (p.Ile72=) rs572717478 0.00011
NM_020166.5(MCCC1):c.535G>A (p.Glu179Lys) rs201758122 0.00011
NM_022132.5(MCCC2):c.1282G>A (p.Ala428Thr) rs371374378 0.00011
NM_022132.5(MCCC2):c.1545G>C (p.Glu515Asp) rs140220101 0.00011
NM_201548.5(CERKL):c.540A>G (p.Lys180=) rs149505471 0.00011
NM_000016.6(ACADM):c.210T>G (p.Thr70=) rs778891510 0.00010
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys) rs753816946 0.00010
NM_000071.3(CBS):c.1223+5G>A rs372609349 0.00010
NM_000137.4(FAH):c.1193G>A (p.Gly398Glu) rs141946827 0.00010
NM_000137.4(FAH):c.412G>A (p.Gly138Arg) rs143243347 0.00010
NM_000137.4(FAH):c.648C>A (p.Ile216=) rs147016995 0.00010
NM_000159.4(GCDH):c.-4G>C rs371464666 0.00010
NM_000159.4(GCDH):c.510G>C (p.Lys170Asn) rs200785120 0.00010
NM_000170.3(GLDC):c.2212T>A (p.Cys738Ser) rs375850752 0.00010
NM_000170.3(GLDC):c.2230G>A (p.Gly744Arg) rs370061961 0.00010
NM_000182.5(HADHA):c.810G>A (p.Ala270=) rs376632479 0.00010
NM_000274.4(OAT):c.1291A>G (p.Ile431Val) rs138709143 0.00010
NM_000277.3(PAH):c.509+21G>T rs191700258 0.00010
NM_000282.4(PCCA):c.1519G>A (p.Val507Met) rs146061036 0.00010
NM_000360.4(TH):c.126C>A (p.Ile42=) rs755664117 0.00010
NM_000360.4(TH):c.127G>A (p.Glu43Lys) rs772029518 0.00010
NM_000360.4(TH):c.1389G>A (p.Thr463=) rs370029424 0.00010
NM_000360.4(TH):c.452T>C (p.Val151Ala) rs147569564 0.00010
NM_000360.4(TH):c.576G>A (p.Pro192=) rs201809787 0.00010
NM_000481.4(AMT):c.1062C>A (p.Pro354=) rs377227163 0.00010
NM_000481.4(AMT):c.194A>G (p.His65Arg) rs376248724 0.00010
NM_000481.4(AMT):c.701C>T (p.Ser234Leu) rs150998074 0.00010
NM_001142800.2(EYS):c.7744G>A (p.Val2582Ile) rs779269543 0.00010
NM_001201543.2(FAM161A):c.1085G>T (p.Arg362Leu) rs200813667 0.00010
NM_001201543.2(FAM161A):c.1602G>A (p.Lys534=) rs367777806 0.00010
NM_001201543.2(FAM161A):c.1851+4G>A rs375048963 0.00010
NM_001243279.3(ACSF3):c.1127-5T>C rs200245960 0.00010
NM_001243279.3(ACSF3):c.1369G>A (p.Asp457Asn) rs535695991 0.00010
NM_001243279.3(ACSF3):c.527C>A (p.Thr176Asn) rs368696141 0.00010
NM_001875.5(CPS1):c.2696T>C (p.Met899Thr) rs201340295 0.00010
NM_001876.4(CPT1A):c.1340G>A (p.Arg447Gln) rs757593086 0.00010
NM_004453.4(ETFDH):c.1603G>T (p.Ala535Ser) rs748346465 0.00010
NM_006623.4(PHGDH):c.1543C>T (p.Leu515=) rs148721434 0.00010
NM_014252.4(SLC25A15):c.278G>A (p.Arg93Gln) rs369201060 0.00010
NM_014252.4(SLC25A15):c.861C>T (p.Tyr287=) rs148422923 0.00010
NM_015506.3(MMACHC):c.641G>A (p.Arg214His) rs202189863 0.00010
NM_020166.5(MCCC1):c.1808A>G (p.Asn603Ser) rs201745589 0.00010
NM_201548.5(CERKL):c.191G>A (p.Ser64Asn) rs61760902 0.00010
NM_000018.4(ACADVL):c.1005C>A (p.His335Gln) rs753624994 0.00009
NM_000018.4(ACADVL):c.1613G>A (p.Arg538Gln) rs201350598 0.00009
NM_000018.4(ACADVL):c.1733T>C (p.Met578Thr) rs375806217 0.00009
NM_000018.4(ACADVL):c.1803G>A (p.Met601Ile) rs201462718 0.00009
NM_000048.4(ASL):c.1270G>A (p.Val424Met) rs368264870 0.00009
NM_000071.3(CBS):c.404C>T (p.Thr135Met) rs144832032 0.00009
NM_000137.4(FAH):c.1097C>T (p.Ser366Leu) rs372685249 0.00009
NM_000156.6(GAMT):c.662G>A (p.Arg221His) rs766553422 0.00009
NM_000170.3(GLDC):c.3010C>G (p.Pro1004Ala) rs773642256 0.00009
NM_000191.3(HMGCL):c.375C>T (p.Val125=) rs139102957 0.00009
NM_000274.4(OAT):c.1015-5C>T rs764963374 0.00009
NM_000277.3(PAH):c.60+9C>T rs369454152 0.00009
NM_000282.4(PCCA):c.36C>T (p.Val12=) rs375516917 0.00009
NM_000317.3(PTS):c.174A>G (p.Thr58=) rs745627441 0.00009
NM_000531.6(OTC):c.385C>T (p.Arg129Cys) rs140046498 0.00009
NM_000531.6(OTC):c.626C>G (p.Ala209Gly) rs72558417 0.00009
NM_000532.5(PCCB):c.1215C>T (p.Tyr405=) rs191375566 0.00009
NM_001142800.2(EYS):c.1747G>T (p.Asp583Tyr) rs776055954 0.00009
NM_001201543.2(FAM161A):c.1044T>C (p.Tyr348=) rs549784796 0.00009
NM_001201543.2(FAM161A):c.1668G>C (p.Gln556His) rs201109013 0.00009
NM_001201543.2(FAM161A):c.916C>T (p.Arg306Trp) rs183615774 0.00009
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser) rs145285434 0.00009
NM_001243279.3(ACSF3):c.122A>T (p.Asp41Val) rs545886514 0.00009
NM_001243279.3(ACSF3):c.672C>T (p.Thr224=) rs150374081 0.00009
NM_001352514.2(HLCS):c.2432A>G (p.Tyr811Cys) rs776535574 0.00009
NM_001875.5(CPS1):c.1087-7C>T rs202117044 0.00009
NM_001876.4(CPT1A):c.1910C>T (p.Ser637Phe) rs150459546 0.00009
NM_001876.4(CPT1A):c.2028+7C>G rs768465007 0.00009
NM_002454.3(MTRR):c.1677-2dup rs747255318 0.00009
NM_003060.4(SLC22A5):c.728A>C (p.Tyr243Ser) rs1321621475 0.00009
NM_004453.4(ETFDH):c.1692A>T (p.Gly564=) rs377544087 0.00009
NM_014049.5(ACAD9):c.1634C>G (p.Ala545Gly) rs375541221 0.00009
NM_014252.4(SLC25A15):c.147C>G (p.Asp49Glu) rs187685447 0.00009
NM_015506.3(MMACHC):c.650A>T (p.Glu217Val) rs199641732 0.00009
NM_020166.5(MCCC1):c.294C>T (p.Ile98=) rs368288499 0.00009
NM_022132.5(MCCC2):c.650C>T (p.Thr217Ile) rs144631139 0.00009
NM_052845.4(MMAB):c.561C>T (p.Ala187=) rs370773720 0.00009
NM_054012.4(ASS1):c.1003C>T (p.Arg335Cys) rs373514077 0.00009
NM_054012.4(ASS1):c.19G>A (p.Val7Met) rs149938546 0.00009
NM_153006.3(NAGS):c.1274A>G (p.Asn425Ser) rs752635329 0.00009
NM_153006.3(NAGS):c.715G>A (p.Val239Ile) rs143427275 0.00009
NM_172250.3(MMAA):c.940C>T (p.Arg314Cys) rs374795215 0.00009
NM_201548.5(CERKL):c.949C>T (p.Arg317Cys) rs142530341 0.00009
NM_000048.4(ASL):c.571C>T (p.Arg191Trp) rs143508372 0.00008
NM_000048.4(ASL):c.72C>T (p.Phe24=) rs760059034 0.00008
NM_000071.3(CBS):c.134G>A (p.Arg45Gln) rs759502207 0.00008
NM_000071.3(CBS):c.400G>A (p.Gly134Arg) rs147474549 0.00008
NM_000071.3(CBS):c.847G>A (p.Glu283Lys) rs765811825 0.00008
NM_000159.4(GCDH):c.946G>A (p.Ala316Thr) rs370059118 0.00008
NM_000170.3(GLDC):c.94C>T (p.Pro32Ser) rs1004754180 0.00008
NM_000274.4(OAT):c.283C>T (p.Pro95Ser) rs372105047 0.00008
NM_000277.3(PAH):c.1140G>A (p.Thr380=) rs373763334 0.00008
NM_000282.4(PCCA):c.490A>G (p.Ile164Val) rs539693612 0.00008
NM_000360.4(TH):c.1475C>T (p.Ala492Val) rs201219944 0.00008
NM_000360.4(TH):c.576+6_576+14del rs775531779 0.00008
NM_000360.4(TH):c.685A>T (p.Ile229Phe) rs778613708 0.00008
NM_001142800.2(EYS):c.1600-10G>A rs111746102 0.00008
NM_001142800.2(EYS):c.2259C>T (p.Leu753=) rs781359405 0.00008
NM_001142800.2(EYS):c.4864G>A (p.Ala1622Thr) rs533075374 0.00008
NM_001142800.2(EYS):c.865C>G (p.Pro289Ala) rs772145998 0.00008
NM_001201543.2(FAM161A):c.598A>G (p.Asn200Asp) rs372038495 0.00008
NM_001875.5(CPS1):c.528+9A>G rs369476447 0.00008
NM_002454.3(MTRR):c.1676+3A>G rs369853875 0.00008
NM_003060.4(SLC22A5):c.1568A>G (p.Gln523Arg) rs28383482 0.00008
NM_003982.4(SLC7A7):c.123C>T (p.Asn41=) rs367673752 0.00008
NM_003982.4(SLC7A7):c.250G>A (p.Val84Ile) rs368317123 0.00008
NM_014251.3(SLC25A13):c.848G>A (p.Gly283Glu) rs544756381 0.00008
NM_054012.4(ASS1):c.1056C>T (p.Ser352=) rs766889925 0.00008
NM_054012.4(ASS1):c.773C>T (p.Ala258Val) rs753078725 0.00008
NM_172250.3(MMAA):c.1078C>T (p.Arg360Trp) rs6812252 0.00008
NM_000156.6(GAMT):c.314G>A (p.Arg105Gln) rs148838075 0.00007
NM_000159.4(GCDH):c.829C>T (p.Leu277Phe) rs371654188 0.00007
NM_000170.3(GLDC):c.1732A>C (p.Asn578His) rs770315107 0.00007
NM_000170.3(GLDC):c.2446G>A (p.Ala816Thr) rs775834004 0.00007
NM_000170.3(GLDC):c.578A>G (p.Asn193Ser) rs555919940 0.00007
NM_000182.5(HADHA):c.1515G>A (p.Lys505=) rs543680661 0.00007
NM_000182.5(HADHA):c.1789A>G (p.Lys597Glu) rs368455378 0.00007
NM_000182.5(HADHA):c.2000+9G>A rs200802583 0.00007
NM_000360.4(TH):c.167C>T (p.Ala56Val) rs745974715 0.00007
NM_000360.4(TH):c.23C>T (p.Thr8Met) rs373964946 0.00007
NM_000481.4(AMT):c.159G>A (p.Ala53=) rs201080782 0.00007
NM_000481.4(AMT):c.713C>T (p.Ala238Val) rs199985521 0.00007
NM_001142800.2(EYS):c.1218G>T (p.Glu406Asp) rs201331309 0.00007
NM_001142800.2(EYS):c.5189G>A (p.Gly1730Glu) rs927928681 0.00007
NM_001142800.2(EYS):c.7811G>A (p.Arg2604His) rs368798160 0.00007
NM_001142800.2(EYS):c.9108T>A (p.Asn3036Lys) rs937362206 0.00007
NM_001201543.2(FAM161A):c.1219A>G (p.Arg407Gly) rs576715893 0.00007
NM_001201543.2(FAM161A):c.86A>G (p.Gln29Arg) rs763794474 0.00007
NM_001243279.3(ACSF3):c.130G>A (p.Ala44Thr) rs759448696 0.00007
NM_001352514.2(HLCS):c.2500G>A (p.Val834Ile) rs145648338 0.00007
NM_001876.4(CPT1A):c.525G>A (p.Pro175=) rs371805329 0.00007
NM_002454.3(MTRR):c.1120C>T (p.Leu374Phe) rs372106115 0.00007
NM_002454.3(MTRR):c.21A>G (p.Leu7=) rs114427781 0.00007
NM_003060.4(SLC22A5):c.1373T>C (p.Val458Ala) rs753268767 0.00007
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln) rs200699819 0.00007
NM_003060.4(SLC22A5):c.875A>T (p.Glu292Val) rs371692440 0.00007
NM_004453.4(ETFDH):c.1733G>A (p.Arg578Gln) rs200290334 0.00007
NM_004453.4(ETFDH):c.424G>A (p.Val142Ile) rs146982178 0.00007
NM_014049.5(ACAD9):c.1309G>A (p.Ala437Thr) rs370266841 0.00007
NM_020166.5(MCCC1):c.1303G>A (p.Ala435Thr) rs142507365 0.00007
NM_052845.4(MMAB):c.14G>A (p.Gly5Asp) rs769048646 0.00007
NM_052845.4(MMAB):c.401C>T (p.Ser134Leu) rs138708209 0.00007
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu) rs140881518 0.00007
NM_153006.3(NAGS):c.1171C>G (p.Leu391Val) rs537949245 0.00007
NM_201548.5(CERKL):c.1127A>C (p.Gln376Pro) rs746220721 0.00007
NM_205861.3(DHDDS):c.874G>A (p.Ala292Thr) rs376234168 0.00007
NM_000016.6(ACADM):c.1265A>T (p.Ter422Leu) rs200376609 0.00006
NM_000016.6(ACADM):c.131A>G (p.Gln44Arg) rs751647383 0.00006
NM_000018.4(ACADVL):c.1434G>A (p.Met478Ile) rs775537775 0.00006
NM_000018.4(ACADVL):c.583A>G (p.Lys195Glu) rs199763196 0.00006
NM_000018.4(ACADVL):c.686G>A (p.Arg229Gln) rs777955007 0.00006
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln) rs147366714 0.00006
NM_000019.4(ACAT1):c.-5C>T rs747790910 0.00006
NM_000019.4(ACAT1):c.1221C>T (p.Tyr407=) rs367713788 0.00006
NM_000019.4(ACAT1):c.85G>T (p.Val29Leu) rs764142914 0.00006
NM_000019.4(ACAT1):c.891G>A (p.Thr297=) rs372169445 0.00006
NM_000048.4(ASL):c.1045G>A (p.Val349Ile) rs372774556 0.00006
NM_000071.3(CBS):c.1067T>C (p.Val356Ala) rs370163789 0.00006
NM_000071.3(CBS):c.1161C>T (p.Ser387=) rs149280976 0.00006
NM_000071.3(CBS):c.1315C>T (p.Arg439Trp) rs780508029 0.00006
NM_000071.3(CBS):c.1379C>T (p.Thr460Met) rs752596508 0.00006
NM_000071.3(CBS):c.1411G>A (p.Gly471Arg) rs201098477 0.00006
NM_000071.3(CBS):c.1472G>A (p.Arg491His) rs747419767 0.00006
NM_000071.3(CBS):c.1525G>A (p.Ala509Thr) rs1060500680 0.00006
NM_000071.3(CBS):c.610G>A (p.Val204Met) rs372679328 0.00006
NM_000071.3(CBS):c.65A>G (p.His22Arg) rs763151207 0.00006
NM_000108.5(DLD):c.1492A>C (p.Asn498His) rs564889609 0.00006
NM_000137.4(FAH):c.302A>G (p.Glu101Gly) rs758347578 0.00006
NM_000156.6(GAMT):c.313C>T (p.Arg105Trp) rs757909053 0.00006
NM_000170.3(GLDC):c.1121G>A (p.Arg374Lys) rs141065026 0.00006
NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu) rs201135624 0.00006
NM_000170.3(GLDC):c.258C>T (p.Ser86=) rs562000292 0.00006
NM_000170.3(GLDC):c.2612A>G (p.Lys871Arg) rs766244892 0.00006
NM_000170.3(GLDC):c.2919C>T (p.Leu973=) rs113736090 0.00006
NM_000170.3(GLDC):c.632A>G (p.Tyr211Cys) rs139931025 0.00006
NM_000191.3(HMGCL):c.151G>A (p.Val51Ile) rs142942001 0.00006
NM_000277.3(PAH):c.222A>G (p.Lys74=) rs374797155 0.00006
NM_000277.3(PAH):c.438C>T (p.His146=) rs191142120 0.00006
NM_000282.4(PCCA):c.522G>A (p.Met174Ile) rs780406346 0.00006
NM_000360.4(TH):c.13G>A (p.Asp5Asn) rs777016570 0.00006
NM_000360.4(TH):c.394G>A (p.Val132Met) rs751702426 0.00006
NM_000360.4(TH):c.550G>A (p.Asp184Asn) rs139807727 0.00006
NM_000360.4(TH):c.674C>A (p.Thr225Asn) rs141907589 0.00006
NM_000481.4(AMT):c.401A>G (p.Asn134Ser) rs776832405 0.00006
NM_000532.5(PCCB):c.818A>T (p.Asp273Val) rs765749691 0.00006
NM_000709.4(BCKDHA):c.1167+4A>C rs546655391 0.00006
NM_001142800.2(EYS):c.1952C>T (p.Ser651Phe) rs940468386 0.00006
NM_001142800.2(EYS):c.2890G>A (p.Glu964Lys) rs886061681 0.00006
NM_001142800.2(EYS):c.2953_2961del (p.Thr985_Gly987del) rs756068592 0.00006
NM_001142800.2(EYS):c.4046G>A (p.Arg1349Gln) rs368698537 0.00006
NM_001142800.2(EYS):c.5140A>C (p.Thr1714Pro) rs201916371 0.00006
NM_001142800.2(EYS):c.6536T>C (p.Ile2179Thr) rs924836478 0.00006
NM_001201543.2(FAM161A):c.686G>A (p.Arg229Gln) rs746372822 0.00006
NM_001201543.2(FAM161A):c.704C>A (p.Thr235Lys) rs199759978 0.00006
NM_001243279.3(ACSF3):c.943G>A (p.Asp315Asn) rs774006607 0.00006
NM_001352514.2(HLCS):c.988C>T (p.Arg330Trp) rs150431185 0.00006
NM_001875.5(CPS1):c.1478C>T (p.Thr493Ile) rs199878637 0.00006
NM_001875.5(CPS1):c.1627G>A (p.Ala543Thr) rs142369181 0.00006
NM_001875.5(CPS1):c.2845G>A (p.Ala949Thr) rs537170841 0.00006
NM_001875.5(CPS1):c.3682C>T (p.Arg1228Trp) rs367595060 0.00006
NM_001876.4(CPT1A):c.1496C>T (p.Ala499Val) rs753866589 0.00006
NM_001876.4(CPT1A):c.176C>T (p.Pro59Leu) rs201762212 0.00006
NM_002225.5(IVD):c.490A>G (p.Met164Val) rs574434706 0.00006
NM_002454.3(MTRR):c.1246T>C (p.Phe416Leu) rs769915505 0.00006
NM_003060.4(SLC22A5):c.770G>A (p.Arg257Gln) rs148989838 0.00006
NM_003982.4(SLC7A7):c.1170G>C (p.Trp390Cys) rs370847983 0.00006
NM_004453.4(ETFDH):c.1744A>C (p.Asn582His) rs757842479 0.00006
NM_014049.5(ACAD9):c.91C>T (p.Arg31Cys) rs368630371 0.00006
NM_020166.5(MCCC1):c.1367G>A (p.Arg456His) rs146689034 0.00006
NM_020166.5(MCCC1):c.1773C>T (p.Ser591=) rs200651846 0.00006
NM_022132.5(MCCC2):c.417C>T (p.Thr139=) rs367635502 0.00006
NM_025136.4(OPA3):c.428C>T (p.Ala143Val) rs553598004 0.00006
NM_052845.4(MMAB):c.256G>A (p.Val86Met) rs143935056 0.00006
NM_054012.4(ASS1):c.295G>A (p.Ala99Thr) rs150466363 0.00006
NM_172250.3(MMAA):c.850G>C (p.Asp284His) rs758654806 0.00006
NM_172250.3(MMAA):c.92G>A (p.Ser31Asn) rs142126209 0.00006
NM_172250.3(MMAA):c.947G>A (p.Arg316His) rs377228966 0.00006
NM_201548.5(CERKL):c.41A>C (p.Glu14Ala) rs372089851 0.00006
NM_000018.4(ACADVL):c.1754C>T (p.Ala585Val) rs374729641 0.00005
NM_000018.4(ACADVL):c.760G>A (p.Gly254Ser) rs765423779 0.00005
NM_000019.4(ACAT1):c.34G>A (p.Ala12Thr) rs764674778 0.00005
NM_000071.3(CBS):c.1468-6T>G rs771250766 0.00005
NM_000071.3(CBS):c.1564G>A (p.Gly522Arg) rs201916339 0.00005
NM_000071.3(CBS):c.953C>T (p.Thr318Met) rs769541394 0.00005
NM_000156.6(GAMT):c.511C>G (p.Leu171Val) rs770110177 0.00005
NM_000159.4(GCDH):c.1092C>T (p.Pro364=) rs146363703 0.00005
NM_000159.4(GCDH):c.1210G>A (p.Ala404Thr) rs201509112 0.00005
NM_000170.3(GLDC):c.1791G>C (p.Glu597Asp) rs141875337 0.00005
NM_000170.3(GLDC):c.1926G>A (p.Thr642=) rs772101467 0.00005
NM_000170.3(GLDC):c.250C>T (p.Leu84=) rs746606221 0.00005
NM_000170.3(GLDC):c.270G>C (p.Leu90Phe) rs747736821 0.00005
NM_000170.3(GLDC):c.576C>G (p.Ala192=) rs768514155 0.00005
NM_000182.5(HADHA):c.1947T>A (p.Asn649Lys) rs777153382 0.00005
NM_000191.3(HMGCL):c.470C>T (p.Ala157Val) rs147752765 0.00005
NM_000191.3(HMGCL):c.76A>G (p.Met26Val) rs756958205 0.00005
NM_000360.4(TH):c.110G>A (p.Arg37His) rs368122376 0.00005
NM_000360.4(TH):c.19A>C (p.Thr7Pro) rs768150949 0.00005
NM_000360.4(TH):c.71A>G (p.Lys24Arg) rs768206231 0.00005
NM_000481.4(AMT):c.436G>A (p.Ala146Thr) rs570868528 0.00005
NM_000709.4(BCKDHA):c.1093C>T (p.Arg365Trp) rs1218567341 0.00005
NM_000709.4(BCKDHA):c.174G>A (p.Ser58=) rs576803251 0.00005
NM_001142800.2(EYS):c.2642-5T>G rs767752603 0.00005
NM_001142800.2(EYS):c.3010A>C (p.Asn1004His) rs781222768 0.00005
NM_001142800.2(EYS):c.3446G>A (p.Cys1149Tyr) rs1315175190 0.00005
NM_001142800.2(EYS):c.4115C>T (p.Pro1372Leu) rs569134881 0.00005
NM_001142800.2(EYS):c.557A>G (p.His186Arg) rs140341077 0.00005
NM_001142800.2(EYS):c.6473T>C (p.Leu2158Pro) rs777735735 0.00005
NM_001142800.2(EYS):c.6571+5G>A rs991580368 0.00005
NM_001142800.2(EYS):c.833T>C (p.Phe278Ser) rs142777049 0.00005
NM_001201543.2(FAM161A):c.1628G>A (p.Arg543Gln) rs374748539 0.00005
NM_001243279.3(ACSF3):c.194G>A (p.Arg65His) rs745633046 0.00005
NM_001243279.3(ACSF3):c.390C>T (p.Pro130=) rs368192538 0.00005
NM_001243279.3(ACSF3):c.828G>T (p.Trp276Cys) rs570233664 0.00005
NM_001352514.2(HLCS):c.1857C>A (p.Ala619=) rs759178651 0.00005
NM_001352514.2(HLCS):c.1910C>T (p.Pro637Leu) rs536067980 0.00005
NM_001875.5(CPS1):c.2066G>A (p.Arg689His) rs201256385 0.00005
NM_001876.4(CPT1A):c.434G>A (p.Arg145His) rs373015421 0.00005
NM_002225.5(IVD):c.832A>C (p.Ser278Arg) rs552272986 0.00005
NM_002454.3(MTRR):c.346C>A (p.Gln116Lys) rs202110383 0.00005
NM_002454.3(MTRR):c.503C>T (p.Pro168Leu) rs757635349 0.00005
NM_003060.4(SLC22A5):c.1022G>A (p.Arg341Gln) rs757199947 0.00005
NM_003060.4(SLC22A5):c.892C>T (p.Arg298Cys) rs755114089 0.00005
NM_003982.4(SLC7A7):c.1406C>T (p.Pro469Leu) rs142739200 0.00005
NM_003982.4(SLC7A7):c.439C>T (p.Leu147Phe) rs146280056 0.00005
NM_003982.4(SLC7A7):c.476G>A (p.Arg159His) rs756297612 0.00005
NM_004453.4(ETFDH):c.841A>G (p.Ile281Val) rs761854400 0.00005
NM_005957.5(MTHFR):c.1028C>T (p.Pro343Leu) rs775190420 0.00005
NM_006623.4(PHGDH):c.916A>G (p.Met306Val) rs587648058 0.00005
NM_006623.4(PHGDH):c.946G>A (p.Val316Met) rs146398308 0.00005
NM_014251.3(SLC25A13):c.1754G>A (p.Arg585His) rs367770143 0.00005
NM_014251.3(SLC25A13):c.454A>G (p.Thr152Ala) rs146131228 0.00005
NM_014252.4(SLC25A15):c.381G>A (p.Thr127=) rs543205273 0.00005
NM_014252.4(SLC25A15):c.388G>A (p.Val130Met) rs553432772 0.00005
NM_014252.4(SLC25A15):c.417G>A (p.Glu139=) rs752316567 0.00005
NM_020166.5(MCCC1):c.2035G>A (p.Ala679Thr) rs202192191 0.00005
NM_020166.5(MCCC1):c.71G>C (p.Ser24Thr) rs762409158 0.00005
NM_022132.5(MCCC2):c.162T>C (p.Asn54=) rs774812912 0.00005
NM_022132.5(MCCC2):c.775G>T (p.Asp259Tyr) rs191457686 0.00005
NM_052845.4(MMAB):c.346A>G (p.Lys116Glu) rs551289581 0.00005
NM_052845.4(MMAB):c.44G>A (p.Arg15His) rs367711757 0.00005
NM_052845.4(MMAB):c.665C>T (p.Thr222Met) rs142070439 0.00005
NM_054012.4(ASS1):c.911G>A (p.Arg304Gln) rs771640767 0.00005
NM_172250.3(MMAA):c.1003A>T (p.Ile335Phe) rs199749473 0.00005
NM_172250.3(MMAA):c.1121G>A (p.Ser374Asn) rs778178659 0.00005
NM_172250.3(MMAA):c.175G>C (p.Asp59His) rs371779800 0.00005
NM_172250.3(MMAA):c.989G>A (p.Arg330Gln) rs140031911 0.00005
NM_183050.4(BCKDHB):c.1168A>G (p.Ile390Val) rs753690047 0.00005
NM_205861.3(DHDDS):c.476G>A (p.Arg159His) rs369429285 0.00005
NM_205861.3(DHDDS):c.65C>T (p.Ala22Val) rs372070142 0.00005
NM_000018.4(ACADVL):c.109C>T (p.Arg37Trp) rs536992268 0.00004
NM_000018.4(ACADVL):c.1531C>T (p.Arg511Trp) rs771025937 0.00004
NM_000018.4(ACADVL):c.1820G>C (p.Cys607Ser) rs200117742 0.00004
NM_000018.4(ACADVL):c.352G>A (p.Asp118Asn) rs543878973 0.00004
NM_000019.4(ACAT1):c.1279C>A (p.Leu427Met) rs201500937 0.00004
NM_000019.4(ACAT1):c.637G>A (p.Ala213Thr) rs772087249 0.00004
NM_000019.4(ACAT1):c.770A>C (p.Lys257Thr) rs370652435 0.00004
NM_000048.4(ASL):c.1063-8G>A rs548397162 0.00004
NM_000071.3(CBS):c.1281G>A (p.Pro427=) rs563330591 0.00004
NM_000071.3(CBS):c.1512G>A (p.Glu504=) rs149170219 0.00004
NM_000071.3(CBS):c.71C>T (p.Ala24Val) rs759682004 0.00004
NM_000108.5(DLD):c.1382G>A (p.Gly461Glu) rs757275923 0.00004
NM_000108.5(DLD):c.764T>C (p.Met255Thr) rs185710460 0.00004
NM_000108.5(DLD):c.814T>C (p.Phe272Leu) rs942843326 0.00004
NM_000108.5(DLD):c.82T>C (p.Ser28Pro) rs768123909 0.00004
NM_000126.4(ETFA):c.170G>C (p.Gly57Ala) rs146299082 0.00004
NM_000126.4(ETFA):c.541G>A (p.Gly181Ser) rs374127169 0.00004
NM_000137.4(FAH):c.322A>G (p.Ile108Val) rs747942022 0.00004
NM_000137.4(FAH):c.81+8G>A rs188046704 0.00004
NM_000156.6(GAMT):c.311C>T (p.Pro104Leu) rs368864187 0.00004
NM_000156.6(GAMT):c.655G>A (p.Asp219Asn) rs753228876 0.00004
NM_000170.3(GLDC):c.1424C>T (p.Thr475Ile) rs750883330 0.00004
NM_000170.3(GLDC):c.2362C>G (p.Leu788Val) rs139300551 0.00004
NM_000170.3(GLDC):c.2545A>G (p.Arg849Gly) rs778000679 0.00004
NM_000170.3(GLDC):c.489A>G (p.Pro163=) rs770044310 0.00004
NM_000170.3(GLDC):c.869C>T (p.Ala290Val) rs534936420 0.00004
NM_000182.5(HADHA):c.1141G>A (p.Val381Met) rs764067083 0.00004
NM_000182.5(HADHA):c.1209A>G (p.Gln403=) rs780178287 0.00004
NM_000182.5(HADHA):c.1753G>A (p.Ala585Thr) rs753722938 0.00004
NM_000182.5(HADHA):c.316A>G (p.Met106Val) rs143122454 0.00004
NM_000182.5(HADHA):c.896C>A (p.Pro299His) rs905722226 0.00004
NM_000191.3(HMGCL):c.950A>G (p.Lys317Arg) rs777758512 0.00004
NM_000274.4(OAT):c.1228G>A (p.Asp410Asn) rs745530000 0.00004
NM_000277.3(PAH):c.1010G>A (p.Gly337Glu) rs62517206 0.00004
NM_000277.3(PAH):c.420G>A (p.Ala140=) rs200366386 0.00004
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly) rs1169861687 0.00004
NM_000282.4(PCCA):c.819+9A>G rs372739944 0.00004
NM_000282.4(PCCA):c.825A>G (p.Leu275=) rs376560248 0.00004
NM_000360.4(TH):c.1317C>T (p.Asp439=) rs375440221 0.00004
NM_000360.4(TH):c.1382C>T (p.Pro461Leu) rs767635052 0.00004
NM_000360.4(TH):c.1402G>A (p.Val468Met) rs1800033 0.00004
NM_000360.4(TH):c.304G>T (p.Val102Leu) rs372077622 0.00004
NM_000360.4(TH):c.653C>T (p.Pro218Leu) rs377729019 0.00004
NM_000360.4(TH):c.794G>A (p.Arg265Gln) rs199961079 0.00004
NM_000360.4(TH):c.931A>G (p.Thr311Ala) rs1016513333 0.00004
NM_000360.4(TH):c.950C>G (p.Ala317Gly) rs370710158 0.00004
NM_000360.4(TH):c.978-3C>A rs754735292 0.00004
NM_000481.4(AMT):c.1097C>T (p.Pro366Leu) rs201400089 0.00004
NM_000481.4(AMT):c.148G>C (p.Val50Leu) rs148917929 0.00004
NM_000481.4(AMT):c.203C>T (p.Ser68Leu) rs759015013 0.00004
NM_000481.4(AMT):c.283G>A (p.Val95Met) rs183396486 0.00004
NM_000481.4(AMT):c.752C>G (p.Pro251Arg) rs770999859 0.00004
NM_000481.4(AMT):c.944G>A (p.Arg315Lys) rs376366324 0.00004
NM_000481.4(AMT):c.962T>C (p.Val321Ala) rs766509002 0.00004
NM_000532.5(PCCB):c.1514T>C (p.Ile505Thr) rs1353542774 0.00004
NM_000532.5(PCCB):c.1541G>A (p.Arg514Gln) rs577625696 0.00004
NM_000532.5(PCCB):c.163A>G (p.Ile55Val) rs561539546 0.00004
NM_000532.5(PCCB):c.306T>G (p.Phe102Leu) rs770601332 0.00004
NM_000532.5(PCCB):c.613G>A (p.Val205Ile) rs141956198 0.00004
NM_000709.4(BCKDHA):c.1192G>A (p.Glu398Lys) rs201168715 0.00004
NM_000709.4(BCKDHA):c.349C>T (p.Arg117Cys) rs188135164 0.00004
NM_001142800.2(EYS):c.1111C>A (p.Gln371Lys) rs979156982 0.00004
NM_001142800.2(EYS):c.1124A>C (p.Glu375Ala) rs955372590 0.00004
NM_001142800.2(EYS):c.116A>G (p.Tyr39Cys) rs45541238 0.00004
NM_001142800.2(EYS):c.2222C>T (p.Ala741Val) rs1009558644 0.00004
NM_001142800.2(EYS):c.2387A>T (p.Glu796Val) rs909973943 0.00004
NM_001142800.2(EYS):c.2546G>A (p.Arg849His) rs775080539 0.00004
NM_001142800.2(EYS):c.3185A>T (p.Glu1062Val) rs888286822 0.00004
NM_001142800.2(EYS):c.5411T>C (p.Ile1804Thr) rs368097230 0.00004
NM_001142800.2(EYS):c.5462C>T (p.Thr1821Ile) rs776654329 0.00004
NM_001142800.2(EYS):c.5609A>G (p.Glu1870Gly) rs1002095739 0.00004
NM_001142800.2(EYS):c.5775A>G (p.Gln1925=) rs1465801209 0.00004
NM_001142800.2(EYS):c.5902G>A (p.Gly1968Arg) rs992864714 0.00004
NM_001142800.2(EYS):c.5949C>T (p.Asn1983=) rs541973291 0.00004
NM_001142800.2(EYS):c.5950G>A (p.Ala1984Thr) rs574948016 0.00004
NM_001142800.2(EYS):c.7492G>C (p.Ala2498Pro) rs1311193836 0.00004
NM_001142800.2(EYS):c.77G>A (p.Arg26Gln) rs528733427 0.00004
NM_001142800.2(EYS):c.7949C>T (p.Ser2650Phe) rs374714909 0.00004
NM_001142800.2(EYS):c.8003G>T (p.Cys2668Phe) rs985211023 0.00004
NM_001142800.2(EYS):c.8186C>T (p.Ala2729Val) rs377362833 0.00004
NM_001142800.2(EYS):c.8207C>T (p.Ala2736Val) rs374200609 0.00004
NM_001142800.2(EYS):c.8834G>A (p.Gly2945Glu) rs1161453292 0.00004
NM_001142800.2(EYS):c.9202G>C (p.Glu3068Gln) rs1241787129 0.00004
NM_001142800.2(EYS):c.9263G>A (p.Gly3088Glu) rs913465684 0.00004
NM_001142800.2(EYS):c.9352T>C (p.Phe3118Leu) rs953147842 0.00004
NM_001142800.2(EYS):c.9414T>G (p.Asp3138Glu) rs374161234 0.00004
NM_001201543.2(FAM161A):c.1357G>C (p.Val453Leu) rs973178862 0.00004
NM_001201543.2(FAM161A):c.1459C>T (p.Arg487Cys) rs780565318 0.00004
NM_001201543.2(FAM161A):c.1759G>A (p.Glu587Lys) rs868226745 0.00004
NM_001201543.2(FAM161A):c.1979C>T (p.Thr660Met) rs372371486 0.00004
NM_001201543.2(FAM161A):c.423-5T>C rs530372842 0.00004
NM_001243279.3(ACSF3):c.116G>A (p.Arg39His) rs144711526 0.00004
NM_001243279.3(ACSF3):c.1238A>T (p.Lys413Met) rs201003194 0.00004
NM_001243279.3(ACSF3):c.1242G>A (p.Val414=) rs766713747 0.00004
NM_001243279.3(ACSF3):c.1251G>T (p.Gly417=) rs3743984 0.00004
NM_001243279.3(ACSF3):c.1375G>A (p.Val459Met) rs200029061 0.00004
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp) rs147538370 0.00004
NM_001243279.3(ACSF3):c.1553C>A (p.Ala518Asp) rs761852278 0.00004
NM_001243279.3(ACSF3):c.1703C>T (p.Ala568Val) rs142633119 0.00004
NM_001243279.3(ACSF3):c.1721dup (p.His574fs) rs768886326 0.00004
NM_001243279.3(ACSF3):c.506C>T (p.Pro169Leu) rs377732201 0.00004
NM_001243279.3(ACSF3):c.666+9C>T rs767663198 0.00004
NM_001243279.3(ACSF3):c.726C>T (p.Leu242=) rs377354800 0.00004
NM_001243279.3(ACSF3):c.936C>T (p.His312=) rs202119269 0.00004
NM_001352514.2(HLCS):c.2341G>A (p.Asp781Asn) rs149399432 0.00004
NM_001370658.1(BTD):c.-38G>A rs138473616 0.00004
NM_001370658.1(BTD):c.1536G>A (p.Thr512=) rs774052068 0.00004
NM_001875.5(CPS1):c.3757-10A>C rs201251176 0.00004
NM_001875.5(CPS1):c.785C>T (p.Ala262Val) rs372217508 0.00004
NM_001876.4(CPT1A):c.-6C>G rs561418145 0.00004
NM_001876.4(CPT1A):c.1003G>A (p.Val335Ile) rs112620511 0.00004
NM_001876.4(CPT1A):c.145G>A (p.Gly49Ser) rs552007692 0.00004
NM_001876.4(CPT1A):c.1874C>T (p.Thr625Met) rs142473901 0.00004
NM_001876.4(CPT1A):c.2243A>T (p.His748Leu) rs900349852 0.00004
NM_001876.4(CPT1A):c.517C>T (p.Arg173Cys) rs774388890 0.00004
NM_001876.4(CPT1A):c.929G>A (p.Arg310Gln) rs536671702 0.00004
NM_002225.5(IVD):c.1243G>A (p.Gly415Ser) rs150855952 0.00004
NM_002225.5(IVD):c.52C>T (p.Arg18Trp) rs375138989 0.00004
NM_002454.3(MTRR):c.209G>A (p.Arg70His) rs777202031 0.00004
NM_003060.4(SLC22A5):c.1007G>A (p.Arg336Gln) rs759529143 0.00004
NM_003060.4(SLC22A5):c.1017T>C (p.Asn339=) rs758572818 0.00004
NM_003060.4(SLC22A5):c.1403C>A (p.Thr468Lys) rs386134221 0.00004
NM_003060.4(SLC22A5):c.1453G>A (p.Ala485Thr) rs145147616 0.00004
NM_003060.4(SLC22A5):c.769C>T (p.Arg257Trp) rs386134203 0.00004
NM_003060.4(SLC22A5):c.811G>A (p.Val271Met) rs143013773 0.00004
NM_003982.4(SLC7A7):c.1229G>A (p.Arg410Gln) rs368317701 0.00004
NM_003982.4(SLC7A7):c.126C>T (p.Gly42=) rs773097626 0.00004
NM_003982.4(SLC7A7):c.1349C>T (p.Ala450Val) rs141632828 0.00004
NM_003982.4(SLC7A7):c.241C>T (p.Leu81Phe) rs371860097 0.00004
NM_004453.4(ETFDH):c.1690+4A>G rs752590057 0.00004
NM_005957.5(MTHFR):c.700G>A (p.Asp234Asn) rs45589033 0.00004
NM_005957.5(MTHFR):c.90G>A (p.Ser30=) rs765167328 0.00004
NM_014049.5(ACAD9):c.1684G>A (p.Asp562Asn) rs547697115 0.00004
NM_014252.4(SLC25A15):c.255C>T (p.Tyr85=) rs536354947 0.00004
NM_014252.4(SLC25A15):c.751A>G (p.Arg251Gly) rs746683247 0.00004
NM_015506.3(MMACHC):c.733T>C (p.Ser245Pro) rs779575471 0.00004
NM_015506.3(MMACHC):c.88T>C (p.Trp30Arg) rs745419717 0.00004
NM_020166.5(MCCC1):c.1282G>A (p.Val428Met) rs150943644 0.00004
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His) rs768785753 0.00004
NM_020166.5(MCCC1):c.1768T>C (p.Tyr590His) rs143892743 0.00004
NM_022132.5(MCCC2):c.1120G>A (p.Gly374Arg) rs753784414 0.00004
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val) rs119103224 0.00004
NM_022132.5(MCCC2):c.1488+3C>T rs374049769 0.00004
NM_022132.5(MCCC2):c.1663A>G (p.Lys555Glu) rs1257849672 0.00004
NM_022132.5(MCCC2):c.1674C>T (p.Phe558=) rs768354167 0.00004
NM_022132.5(MCCC2):c.1690T>C (p.Ter564Gln) rs751970792 0.00004
NM_022132.5(MCCC2):c.355A>G (p.Ile119Val) rs770437473 0.00004
NM_052845.4(MMAB):c.349-9G>A rs372577644 0.00004
NM_052845.4(MMAB):c.402G>A (p.Ser134=) rs756766385 0.00004
NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys) rs765547005 0.00004
NM_054012.4(ASS1):c.142A>G (p.Arg48Gly) rs374695792 0.00004
NM_054012.4(ASS1):c.533C>T (p.Pro178Leu) rs768846877 0.00004
NM_054012.4(ASS1):c.796A>G (p.Ile266Val) rs377221825 0.00004
NM_153006.3(NAGS):c.534G>A (p.Pro178=) rs539061299 0.00004
NM_153006.3(NAGS):c.940G>A (p.Ala314Thr) rs186127828 0.00004
NM_172250.3(MMAA):c.-4G>A rs374109118 0.00004
NM_172250.3(MMAA):c.440-4G>A rs780768376 0.00004
NM_183050.4(BCKDHB):c.434C>T (p.Ala145Val) rs574122134 0.00004
NM_183050.4(BCKDHB):c.727C>T (p.Leu243Phe) rs398124591 0.00004
NM_201548.5(CERKL):c.250T>C (p.Tyr84His) rs1343928865 0.00004
NM_201548.5(CERKL):c.677+610A>G rs116063501 0.00004
NM_201548.5(CERKL):c.830A>G (p.Asn277Ser) rs200369970 0.00004
NM_201548.5(CERKL):c.953T>C (p.Phe318Ser) rs745341953 0.00004
NM_000016.6(ACADM):c.286G>C (p.Gly96Arg) rs886042055 0.00003
NM_000016.6(ACADM):c.407C>T (p.Ala136Val) rs750792245 0.00003
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met) rs113994169 0.00003
NM_000018.4(ACADVL):c.1605+7G>A rs572010910 0.00003
NM_000018.4(ACADVL):c.1858G>A (p.Ala620Thr) rs965557488 0.00003
NM_000018.4(ACADVL):c.277+6G>T rs776422793 0.00003
NM_000018.4(ACADVL):c.298C>G (p.Gln100Glu) rs750675692 0.00003
NM_000018.4(ACADVL):c.992A>C (p.Lys331Thr) rs727503792 0.00003
NM_000019.4(ACAT1):c.709C>A (p.Pro237Thr) rs754478568 0.00003
NM_000019.4(ACAT1):c.967A>G (p.Ile323Val) rs1282394804 0.00003
NM_000048.4(ASL):c.1345G>A (p.Asp449Asn) rs781031440 0.00003
NM_000048.4(ASL):c.924C>T (p.Ala308=) rs747831550 0.00003
NM_000048.4(ASL):c.938C>A (p.Thr313Asn) rs1410031530 0.00003
NM_000071.3(CBS):c.1009A>G (p.Met337Val) rs372822486 0.00003
NM_000071.3(CBS):c.1106G>A (p.Arg369His) rs11700812 0.00003
NM_000071.3(CBS):c.1205T>C (p.Leu402Pro) rs371214833 0.00003
NM_000071.3(CBS):c.1316G>A (p.Arg439Gln) rs756467921 0.00003
NM_000071.3(CBS):c.1484C>T (p.Thr495Met) rs772344567 0.00003
NM_000071.3(CBS):c.152G>A (p.Arg51Lys) rs370983323 0.00003
NM_000071.3(CBS):c.1594G>A (p.Gly532Arg) rs748953468 0.00003
NM_000071.3(CBS):c.538G>A (p.Val180Met) rs759402521 0.00003
NM_000071.3(CBS):c.588G>C (p.Arg196Ser) rs555751528 0.00003
NM_000071.3(CBS):c.616G>A (p.Val206Met) rs369220569 0.00003
NM_000071.3(CBS):c.791T>C (p.Ile264Thr) rs760212248 0.00003
NM_000126.4(ETFA):c.197A>G (p.Asp66Gly) rs201888260 0.00003
NM_000126.4(ETFA):c.215G>A (p.Gly72Asp) rs758004001 0.00003
NM_000126.4(ETFA):c.883-3C>T rs772701864 0.00003
NM_000137.4(FAH):c.1022G>A (p.Arg341Gln) rs903038605 0.00003
NM_000137.4(FAH):c.10A>C (p.Ile4Leu) rs754336457 0.00003
NM_000156.6(GAMT):c.20C>A (p.Thr7Asn) rs761687649 0.00003
NM_000156.6(GAMT):c.211A>G (p.Met71Val) rs372027428 0.00003
NM_000156.6(GAMT):c.292C>T (p.Arg98Trp) rs765070826 0.00003
NM_000156.6(GAMT):c.460-7T>G rs1200384623 0.00003
NM_000156.6(GAMT):c.509A>C (p.Asn170Thr) rs202199674 0.00003
NM_000156.6(GAMT):c.608G>A (p.Arg203Gln) rs376499506 0.00003
NM_000156.6(GAMT):c.622C>T (p.Arg208Cys) rs778279369 0.00003
NM_000156.6(GAMT):c.623G>A (p.Arg208His) rs767887772 0.00003
NM_000156.6(GAMT):c.650C>T (p.Pro217Leu) rs139890971 0.00003
NM_000156.6(GAMT):c.68C>T (p.Ala23Val) rs796052530 0.00003
NM_000159.4(GCDH):c.893C>T (p.Ala298Val) rs764993096 0.00003
NM_000170.3(GLDC):c.1751C>T (p.Pro584Leu) rs779138019 0.00003
NM_000170.3(GLDC):c.183C>A (p.Asp61Glu) rs375497905 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.227G>C (p.Arg76Thr) rs143358660 0.00003
NM_000170.3(GLDC):c.2305C>A (p.Pro769Thr) rs751114163 0.00003
NM_000170.3(GLDC):c.262G>A (p.Asp88Asn) rs770826242 0.00003
NM_000170.3(GLDC):c.2926G>A (p.Val976Met) rs150624881 0.00003
NM_000182.5(HADHA):c.1453G>T (p.Ala485Ser) rs958717402 0.00003
NM_000191.3(HMGCL):c.349-3C>A rs777476731 0.00003
NM_000191.3(HMGCL):c.651G>T (p.Met217Ile) rs746968587 0.00003
NM_000191.3(HMGCL):c.94C>T (p.Arg32Trp) rs759745527 0.00003
NM_000274.4(OAT):c.1187G>A (p.Arg396Gln) rs776819570 0.00003
NM_000274.4(OAT):c.650G>A (p.Arg217His) rs774853325 0.00003
NM_000277.3(PAH):c.71A>G (p.Tyr24Cys) rs539994406 0.00003
NM_000282.4(PCCA):c.1342A>G (p.Met448Val) rs767060690 0.00003
NM_000282.4(PCCA):c.1929C>T (p.Ala643=) rs772945583 0.00003
NM_000282.4(PCCA):c.1933G>A (p.Glu645Lys) rs145428347 0.00003
NM_000282.4(PCCA):c.2T>C (p.Met1Thr) rs372093520 0.00003
NM_000282.4(PCCA):c.803G>A (p.Arg268His) rs368047060 0.00003
NM_000360.4(TH):c.1102A>T (p.Thr368Ser) rs537643329 0.00003
NM_000360.4(TH):c.1297G>A (p.Val433Met) rs772641972 0.00003
NM_000360.4(TH):c.171C>T (p.Ala57=) rs771152796 0.00003
NM_000360.4(TH):c.225G>A (p.Glu75=) rs558597025 0.00003
NM_000360.4(TH):c.365G>A (p.Arg122Gln) rs201093528 0.00003
NM_000360.4(TH):c.91-853C>T rs756331878 0.00003
NM_000481.4(AMT):c.1082C>T (p.Ala361Val) rs757293245 0.00003
NM_000481.4(AMT):c.1202C>A (p.Thr401Asn) rs752952950 0.00003
NM_000481.4(AMT):c.583G>A (p.Val195Met) rs372496075 0.00003
NM_000532.5(PCCB):c.862G>C (p.Val288Leu) rs201984177 0.00003
NM_000532.5(PCCB):c.988T>G (p.Phe330Val) rs748708704 0.00003
NM_000709.4(BCKDHA):c.330A>T (p.Thr110=) rs201366184 0.00003
NM_000709.4(BCKDHA):c.633G>A (p.Thr211=) rs750729027 0.00003
NM_000709.4(BCKDHA):c.726T>C (p.Ser242=) rs750023394 0.00003
NM_000709.4(BCKDHA):c.819G>T (p.Thr273=) rs201991385 0.00003
NM_000709.4(BCKDHA):c.891C>T (p.Arg297=) rs187669174 0.00003
NM_001142800.2(EYS):c.1154G>A (p.Cys385Tyr) rs775400880 0.00003
NM_001142800.2(EYS):c.1652G>A (p.Arg551Gln) rs773906269 0.00003
NM_001142800.2(EYS):c.2593A>G (p.Thr865Ala) rs1228765084 0.00003
NM_001142800.2(EYS):c.2857A>G (p.Asn953Asp) rs1326644818 0.00003
NM_001142800.2(EYS):c.3419G>A (p.Gly1140Glu) rs995707027 0.00003
NM_001142800.2(EYS):c.3793C>T (p.Pro1265Ser) rs1245332279 0.00003
NM_001142800.2(EYS):c.3809T>G (p.Val1270Gly) rs368856942 0.00003
NM_001142800.2(EYS):c.4308T>G (p.Ile1436Met) rs1402137490 0.00003
NM_001142800.2(EYS):c.5330T>C (p.Leu1777Ser) rs947209456 0.00003
NM_001142800.2(EYS):c.5654G>T (p.Cys1885Phe) rs528824271 0.00003
NM_001142800.2(EYS):c.5776G>C (p.Asp1926His) rs1051421896 0.00003
NM_001142800.2(EYS):c.5995A>G (p.Ile1999Val) rs893294562 0.00003
NM_001142800.2(EYS):c.6062T>C (p.Leu2021Pro) rs1372426303 0.00003
NM_001142800.2(EYS):c.6562A>G (p.Ile2188Val) rs184448644 0.00003
NM_001142800.2(EYS):c.7394C>G (p.Thr2465Ser) rs145184183 0.00003
NM_001142800.2(EYS):c.7676C>T (p.Thr2559Ile) rs913910892 0.00003
NM_001142800.2(EYS):c.8071+3G>A rs976010036 0.00003
NM_001142800.2(EYS):c.892T>G (p.Cys298Gly) rs375850148 0.00003
NM_001142800.2(EYS):c.9371T>C (p.Ile3124Thr) rs770840726 0.00003
NM_001201543.2(FAM161A):c.1441G>A (p.Glu481Lys) rs727503924 0.00003
NM_001201543.2(FAM161A):c.1787G>A (p.Arg596Gln) rs201467049 0.00003
NM_001201543.2(FAM161A):c.1966A>G (p.Asn656Asp) rs773989386 0.00003
NM_001243279.3(ACSF3):c.*10C>T rs199783009 0.00003
NM_001243279.3(ACSF3):c.134C>T (p.Pro45Leu) rs767348758 0.00003
NM_001243279.3(ACSF3):c.1524G>A (p.Pro508=) rs375187216 0.00003
NM_001243279.3(ACSF3):c.18G>A (p.Val6=) rs375071176 0.00003
NM_001243279.3(ACSF3):c.29G>A (p.Arg10Gln) rs751551226 0.00003
NM_001243279.3(ACSF3):c.86G>C (p.Ser29Thr) rs754161182 0.00003
NM_001243279.3(ACSF3):c.953G>A (p.Arg318His) rs200352879 0.00003
NM_001352514.2(HLCS):c.1328T>G (p.Val443Gly) rs778061862 0.00003
NM_001352514.2(HLCS):c.1480C>T (p.Pro494Ser) rs556454789 0.00003
NM_001352514.2(HLCS):c.2584G>A (p.Asp862Asn) rs140014588 0.00003
NM_001352514.2(HLCS):c.569C>T (p.Pro190Leu) rs534858065 0.00003
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176 0.00003
NM_001875.5(CPS1):c.2458A>G (p.Ile820Val) rs554763314 0.00003
NM_001875.5(CPS1):c.3472G>A (p.Val1158Ile) rs555151297 0.00003
NM_001876.4(CPT1A):c.1112C>T (p.Ser371Leu) rs376430455 0.00003
NM_001876.4(CPT1A):c.1518C>T (p.Gly506=) rs573112017 0.00003
NM_001876.4(CPT1A):c.2235+4T>C rs755308448 0.00003
NM_001876.4(CPT1A):c.266G>A (p.Arg89Gln) rs751235722 0.00003
NM_001876.4(CPT1A):c.601C>T (p.Arg201Trp) rs373344573 0.00003
NM_001876.4(CPT1A):c.946C>G (p.Arg316Gly) rs80356796 0.00003
NM_002225.5(IVD):c.1001T>C (p.Met334Thr) rs368041528 0.00003
NM_002225.5(IVD):c.264C>T (p.Gly88=) rs377199313 0.00003
NM_002225.5(IVD):c.334A>T (p.Met112Leu) rs772021923 0.00003
NM_002225.5(IVD):c.895C>G (p.Leu299Val) rs149247895 0.00003
NM_002454.3(MTRR):c.208C>T (p.Arg70Cys) rs374239028 0.00003
NM_003060.4(SLC22A5):c.1255C>G (p.Leu419Val) rs780591287 0.00003
NM_003060.4(SLC22A5):c.1271T>C (p.Leu424Ser) rs184618759 0.00003
NM_003060.4(SLC22A5):c.130G>A (p.Ala44Thr) rs1266620798 0.00003
NM_003060.4(SLC22A5):c.131C>T (p.Ala44Val) rs199689597 0.00003
NM_003060.4(SLC22A5):c.133A>G (p.Thr45Ala) rs376438682 0.00003
NM_003060.4(SLC22A5):c.1552C>G (p.Pro518Ala) rs768925240 0.00003
NM_003060.4(SLC22A5):c.377C>A (p.Ser126Tyr) rs568906114 0.00003
NM_003060.4(SLC22A5):c.530T>C (p.Met177Thr) rs761866020 0.00003
NM_003060.4(SLC22A5):c.696G>A (p.Thr232=) rs748677211 0.00003
NM_003982.4(SLC7A7):c.1123G>A (p.Val375Met) rs769093980 0.00003
NM_003982.4(SLC7A7):c.1315G>A (p.Asp439Asn) rs199986641 0.00003
NM_003982.4(SLC7A7):c.149T>C (p.Met50Thr) rs386833811 0.00003
NM_003982.4(SLC7A7):c.595A>G (p.Ile199Val) rs779266344 0.00003
NM_003982.4(SLC7A7):c.894+6G>A rs373812507 0.00003
NM_006623.4(PHGDH):c.718G>A (p.Val240Met) rs765276824 0.00003
NM_014049.5(ACAD9):c.1525G>A (p.Gly509Ser) rs141036010 0.00003
NM_014049.5(ACAD9):c.1832A>G (p.Tyr611Cys) rs1057523761 0.00003
NM_014252.4(SLC25A15):c.677C>T (p.Ala226Val) rs776523157 0.00003
NM_020166.5(MCCC1):c.1715G>C (p.Gly572Ala) rs182830931 0.00003
NM_020166.5(MCCC1):c.2089G>A (p.Val697Met) rs776138490 0.00003
NM_020166.5(MCCC1):c.559T>C (p.Ser187Pro) rs757362635 0.00003
NM_020166.5(MCCC1):c.873G>A (p.Ala291=) rs138794621 0.00003
NM_022132.5(MCCC2):c.1206A>G (p.Gln402=) rs749406136 0.00003
NM_022132.5(MCCC2):c.1344A>G (p.Gly448=) rs201238842 0.00003
NM_022132.5(MCCC2):c.1504G>C (p.Glu502Gln) rs767326357 0.00003
NM_025136.4(OPA3):c.143-5C>A rs770452409 0.00003
NM_052845.4(MMAB):c.316A>G (p.Lys106Glu) rs765917146 0.00003
NM_052845.4(MMAB):c.370G>A (p.Val124Ile) rs573706523 0.00003
NM_052845.4(MMAB):c.539C>T (p.Ser180Leu) rs368584846 0.00003
NM_052845.4(MMAB):c.583C>T (p.Arg195Cys) rs199853576 0.00003
NM_054012.4(ASS1):c.151G>A (p.Ala51Thr) rs142350255 0.00003
NM_054012.4(ASS1):c.190G>A (p.Val64Ile) rs556297791 0.00003
NM_054012.4(ASS1):c.298C>T (p.Arg100Cys) rs370695114 0.00003
NM_054012.4(ASS1):c.772G>A (p.Ala258Thr) rs765748014 0.00003
NM_172250.3(MMAA):c.787C>T (p.Leu263=) rs759947234 0.00003
NM_183050.4(BCKDHB):c.5C>T (p.Ala2Val) rs769876670 0.00003
NM_201548.5(CERKL):c.770G>A (p.Arg257Gln) rs762961333 0.00003
NM_205861.3(DHDDS):c.271G>C (p.Asp91His) rs773154382 0.00003
NM_205861.3(DHDDS):c.308G>A (p.Arg103His) rs115712846 0.00003
NM_000016.6(ACADM):c.1125A>G (p.Ile375Met) rs201809827 0.00002
NM_000016.6(ACADM):c.238A>G (p.Arg80Gly) rs758476299 0.00002
NM_000016.6(ACADM):c.393G>A (p.Met131Ile) rs368773005 0.00002
NM_000016.6(ACADM):c.668T>C (p.Ile223Thr) rs758111285 0.00002
NM_000016.6(ACADM):c.709-13A>G rs746483754 0.00002
NM_000018.4(ACADVL):c.1154G>A (p.Arg385Gln) rs772014118 0.00002
NM_000018.4(ACADVL):c.1366C>T (p.Arg456Cys) rs794727111 0.00002
NM_000018.4(ACADVL):c.340G>A (p.Glu114Lys) rs557260142 0.00002
NM_000018.4(ACADVL):c.519C>T (p.Gly173=) rs757830946 0.00002
NM_000018.4(ACADVL):c.709T>C (p.Cys237Arg) rs1189763523 0.00002
NM_000018.4(ACADVL):c.858G>A (p.Arg286=) rs531514327 0.00002
NM_000019.4(ACAT1):c.990A>G (p.Val330=) rs764361167 0.00002
NM_000048.4(ASL):c.1262C>T (p.Ser421Leu) rs148669165 0.00002
NM_000048.4(ASL):c.326C>T (p.Thr109Met) rs146123574 0.00002
NM_000048.4(ASL):c.62T>C (p.Met21Thr) rs774392615 0.00002
NM_000048.4(ASL):c.77C>T (p.Ala26Val) rs761046404 0.00002
NM_000048.4(ASL):c.919-4G>A rs756230523 0.00002
NM_000071.3(CBS):c.1337C>T (p.Ala446Val) rs757347527 0.00002
NM_000071.3(CBS):c.1342G>A (p.Val448Met) rs865989946 0.00002
NM_000071.3(CBS):c.545G>A (p.Arg182Gln) rs138314784 0.00002
NM_000071.3(CBS):c.921C>G (p.Gly307=) rs147875876 0.00002
NM_000071.3(CBS):c.925G>A (p.Asp309Asn) rs540013184 0.00002
NM_000108.5(DLD):c.597A>T (p.Thr199=) rs768248572 0.00002
NM_000137.4(FAH):c.341C>T (p.Thr114Met) rs772014160 0.00002
NM_000137.4(FAH):c.391C>T (p.Arg131Trp) rs147946196 0.00002
NM_000156.6(GAMT):c.187C>T (p.Arg63Trp) rs777102623 0.00002
NM_000156.6(GAMT):c.220G>A (p.Ala74Thr) rs749284008 0.00002
NM_000156.6(GAMT):c.415C>T (p.Leu139Phe) rs1300612017 0.00002
NM_000156.6(GAMT):c.41A>G (p.Glu14Gly) rs1223870636 0.00002
NM_000156.6(GAMT):c.472C>T (p.Arg158Cys) rs758217156 0.00002
NM_000156.6(GAMT):c.493G>A (p.Val165Ile) rs1050914 0.00002
NM_000159.4(GCDH):c.727C>T (p.Arg243Trp) rs549254182 0.00002
NM_000170.3(GLDC):c.1342G>C (p.Glu448Gln) rs777365335 0.00002
NM_000170.3(GLDC):c.1430A>G (p.Asn477Ser) rs372136194 0.00002
NM_000170.3(GLDC):c.1433A>C (p.Glu478Ala) rs751588571 0.00002
NM_000170.3(GLDC):c.1580+5G>C rs764790596 0.00002
NM_000170.3(GLDC):c.1750C>T (p.Pro584Ser) rs1001664445 0.00002
NM_000170.3(GLDC):c.1785C>G (p.Phe595Leu) rs201997592 0.00002
NM_000170.3(GLDC):c.1870G>A (p.Ala624Thr) rs143653301 0.00002
NM_000170.3(GLDC):c.2243C>T (p.Ser748Leu) rs769035358 0.00002
NM_000170.3(GLDC):c.2818C>T (p.Pro940Ser) rs559923220 0.00002
NM_000170.3(GLDC):c.2966T>C (p.Ile989Thr) rs149336868 0.00002
NM_000170.3(GLDC):c.935T>C (p.Ile312Thr) rs761921284 0.00002
NM_000182.5(HADHA):c.1418C>A (p.Ala473Asp) rs772166712 0.00002
NM_000182.5(HADHA):c.1823G>C (p.Gly608Ala) rs1277103504 0.00002
NM_000182.5(HADHA):c.1889G>A (p.Arg630His) rs150850348 0.00002
NM_000182.5(HADHA):c.199G>C (p.Glu67Gln) rs781303622 0.00002
NM_000182.5(HADHA):c.386A>G (p.Lys129Arg) rs769625802 0.00002
NM_000182.5(HADHA):c.560G>C (p.Arg187Thr) rs146667859 0.00002
NM_000182.5(HADHA):c.677-3T>C rs376306806 0.00002
NM_000182.5(HADHA):c.677G>A (p.Gly226Glu) rs143919136 0.00002
NM_000182.5(HADHA):c.955G>A (p.Gly319Ser) rs752317877 0.00002
NM_000191.3(HMGCL):c.184A>G (p.Met62Val) rs373738626 0.00002
NM_000191.3(HMGCL):c.404C>T (p.Thr135Ile) rs370010993 0.00002
NM_000274.4(OAT):c.1068G>T (p.Leu356Phe) rs768685095 0.00002
NM_000274.4(OAT):c.1255G>C (p.Val419Leu) rs760922693 0.00002
NM_000274.4(OAT):c.202A>G (p.Ile68Val) rs766674632 0.00002
NM_000274.4(OAT):c.785C>A (p.Ala262Asp) rs772762366 0.00002
NM_000277.3(PAH):c.870T>C (p.His290=) rs751203209 0.00002
NM_000282.4(PCCA):c.1275T>G (p.His425Gln) rs548833871 0.00002
NM_000282.4(PCCA):c.590G>C (p.Gly197Ala) rs766245108 0.00002
NM_000282.4(PCCA):c.61C>T (p.Pro21Ser) rs369743452 0.00002
NM_000317.3(PTS):c.186+9A>G rs202139885 0.00002
NM_000360.4(TH):c.1229G>A (p.Arg410Gln) rs367874223 0.00002
NM_000360.4(TH):c.1348C>T (p.Arg450Cys) rs375084700 0.00002
NM_000481.4(AMT):c.100C>T (p.Arg34Cys) rs143389339 0.00002
NM_000481.4(AMT):c.1021G>A (p.Gly341Ser) rs769609020 0.00002
NM_000481.4(AMT):c.1141C>T (p.Arg381Trp) rs775324601 0.00002
NM_000481.4(AMT):c.431C>T (p.Ser144Phe) rs147482804 0.00002
NM_000481.4(AMT):c.584T>C (p.Val195Ala) rs752740839 0.00002
NM_000531.6(OTC):c.216+9C>T rs774764719 0.00002
NM_000531.6(OTC):c.272C>T (p.Thr91Ile) rs372906667 0.00002
NM_000531.6(OTC):c.76C>T (p.Arg26Trp) rs1057515879 0.00002
NM_000532.5(PCCB):c.131G>A (p.Arg44Gln) rs375014273 0.00002
NM_000532.5(PCCB):c.1372G>A (p.Ala458Thr) rs542389615 0.00002
NM_000532.5(PCCB):c.449C>T (p.Thr150Met) rs372770908 0.00002
NM_000532.5(PCCB):c.543G>C (p.Leu181=) rs777868289 0.00002
NM_000709.4(BCKDHA):c.1302C>T (p.Tyr434=) rs398123491 0.00002
NM_000709.4(BCKDHA):c.508C>T (p.Pro170Ser) rs34956071 0.00002
NM_000709.4(BCKDHA):c.798C>T (p.Asn266=) rs772457864 0.00002
NM_000709.4(BCKDHA):c.947G>A (p.Arg316Gln) rs972403437 0.00002
NM_001142800.2(EYS):c.1100G>C (p.Cys367Ser) rs935618633 0.00002
NM_001142800.2(EYS):c.2992G>A (p.Gly998Ser) rs1010982936 0.00002
NM_001142800.2(EYS):c.3105T>G (p.Phe1035Leu) rs969468917 0.00002
NM_001142800.2(EYS):c.3569-7T>G rs1036723042 0.00002
NM_001142800.2(EYS):c.4003G>T (p.Ala1335Ser) rs761342525 0.00002
NM_001142800.2(EYS):c.4146C>A (p.Phe1382Leu) rs748931820 0.00002
NM_001142800.2(EYS):c.4160G>A (p.Arg1387Lys) rs1490023696 0.00002
NM_001142800.2(EYS):c.5448T>A (p.Asp1816Glu) rs529055258 0.00002
NM_001142800.2(EYS):c.5779T>C (p.Ser1927Pro) rs921629471 0.00002
NM_001142800.2(EYS):c.600C>T (p.Cys200=) rs145581501 0.00002
NM_001142800.2(EYS):c.7141G>A (p.Gly2381Arg) rs577000027 0.00002
NM_001142800.2(EYS):c.7459G>A (p.Val2487Met) rs1204307982 0.00002
NM_001142800.2(EYS):c.7699G>A (p.Ala2567Thr) rs1208734040 0.00002
NM_001142800.2(EYS):c.8633C>G (p.Ala2878Gly) rs1409480033 0.00002
NM_001142800.2(EYS):c.8791C>G (p.Gln2931Glu) rs774179534 0.00002
NM_001142800.2(EYS):c.9344T>A (p.Val3115Asp) rs748838955 0.00002
NM_001201543.2(FAM161A):c.1213G>A (p.Gly405Arg) rs544107644 0.00002
NM_001201543.2(FAM161A):c.122C>T (p.Ala41Val) rs768878474 0.00002
NM_001201543.2(FAM161A):c.716C>T (p.Pro239Leu) rs1438804249 0.00002
NM_001201543.2(FAM161A):c.867A>G (p.Ala289=) rs558087162 0.00002
NM_001201543.2(FAM161A):c.972A>T (p.Pro324=) rs769306395 0.00002
NM_001243279.3(ACSF3):c.123C>G (p.Asp41Glu) rs901883302 0.00002
NM_001243279.3(ACSF3):c.1543C>T (p.Arg515Trp) rs563580010 0.00002
NM_001243279.3(ACSF3):c.313G>A (p.Asp105Asn) rs145969050 0.00002
NM_001243279.3(ACSF3):c.480C>T (p.Val160=) rs375671065 0.00002
NM_001243279.3(ACSF3):c.522C>G (p.Ile174Met) rs1456986518 0.00002
NM_001352514.2(HLCS):c.2036C>A (p.Ser679Tyr) rs777373322 0.00002
NM_001352514.2(HLCS):c.2340C>T (p.Ala780=) rs760265551 0.00002
NM_001352514.2(HLCS):c.2476G>A (p.Ala826Thr) rs376898721 0.00002
NM_001352514.2(HLCS):c.2545G>A (p.Gly849Ser) rs773752745 0.00002
NM_001352514.2(HLCS):c.2548G>A (p.Glu850Lys) rs145337682 0.00002
NM_001370658.1(BTD):c.1042G>A (p.Asp348Asn) rs769903360 0.00002
NM_001370658.1(BTD):c.616A>G (p.Lys206Glu) rs1003975438 0.00002
NM_001875.5(CPS1):c.1365A>C (p.Glu455Asp) rs1248150090 0.00002
NM_001875.5(CPS1):c.2116A>G (p.Thr706Ala) rs755035266 0.00002
NM_001875.5(CPS1):c.2459T>C (p.Ile820Thr) rs763191148 0.00002
NM_001875.5(CPS1):c.436A>G (p.Thr146Ala) rs747085519 0.00002
NM_001876.4(CPT1A):c.1352+6G>A rs541440067 0.00002
NM_001876.4(CPT1A):c.1840G>A (p.Asp614Asn) rs200893871 0.00002
NM_001876.4(CPT1A):c.432T>C (p.Ser144=) rs751979703 0.00002
NM_001876.4(CPT1A):c.52G>A (p.Gly18Arg) rs767491846 0.00002
NM_001876.4(CPT1A):c.634G>A (p.Gly212Ser) rs141191480 0.00002
NM_001876.4(CPT1A):c.893G>T (p.Gly298Val) rs1310052561 0.00002
NM_002225.5(IVD):c.268T>A (p.Leu90Met) rs780854004 0.00002
NM_002225.5(IVD):c.357C>T (p.Ser119=) rs776924775 0.00002
NM_002225.5(IVD):c.865G>A (p.Gly289Arg) rs568885234 0.00002
NM_003060.4(SLC22A5):c.1199G>A (p.Arg400His) rs371219688 0.00002
NM_003060.4(SLC22A5):c.1521G>C (p.Leu507Phe) rs778716973 0.00002
NM_003060.4(SLC22A5):c.183C>G (p.Ala61=) rs1226557478 0.00002
NM_003060.4(SLC22A5):c.208C>T (p.Arg70Trp) rs753453677 0.00002
NM_003060.4(SLC22A5):c.368T>G (p.Val123Gly) rs748605096 0.00002
NM_003060.4(SLC22A5):c.706T>C (p.Cys236Arg) rs747050292 0.00002
NM_003060.4(SLC22A5):c.853A>T (p.Ile285Phe) rs1489260087 0.00002
NM_003060.4(SLC22A5):c.878C>T (p.Ala293Val) rs893286644 0.00002
NM_003060.4(SLC22A5):c.951G>A (p.Glu317=) rs1431971523 0.00002
NM_003982.4(SLC7A7):c.106G>A (p.Glu36Lys) rs763832201 0.00002
NM_003982.4(SLC7A7):c.589G>A (p.Ala197Thr) rs1005993109 0.00002
NM_004453.4(ETFDH):c.1324T>A (p.Ser442Thr) rs1255214567 0.00002
NM_004453.4(ETFDH):c.636A>T (p.Lys212Asn) rs758859840 0.00002
NM_005957.5(MTHFR):c.330G>C (p.Met110Ile) rs781158269 0.00002
NM_005957.5(MTHFR):c.815C>T (p.Ser272Phe) rs1160573823 0.00002
NM_006623.4(PHGDH):c.1365A>G (p.Pro455=) rs1264262485 0.00002
NM_006623.4(PHGDH):c.788C>T (p.Thr263Met) rs773221019 0.00002
NM_006623.4(PHGDH):c.804G>A (p.Arg268=) rs587719252 0.00002
NM_014049.5(ACAD9):c.1013A>C (p.Glu338Ala) rs760934225 0.00002
NM_014251.3(SLC25A13):c.1157G>C (p.Gly386Ala) rs776461118 0.00002
NM_014251.3(SLC25A13):c.332A>G (p.Asp111Gly) rs766809778 0.00002
NM_014252.4(SLC25A15):c.217G>A (p.Ala73Thr) rs531611390 0.00002
NM_015702.3(MMADHC):c.743G>A (p.Arg248His) rs756858861 0.00002
NM_020166.5(MCCC1):c.144C>T (p.Asn48=) rs77681010 0.00002
NM_020166.5(MCCC1):c.161T>C (p.Ile54Thr) rs796051987 0.00002
NM_020166.5(MCCC1):c.1644G>A (p.Ser548=) rs150835353 0.00002
NM_020166.5(MCCC1):c.1709A>G (p.His570Arg) rs761480737 0.00002
NM_020166.5(MCCC1):c.295G>A (p.Gly99Ser) rs375244642 0.00002
NM_020166.5(MCCC1):c.387C>T (p.Cys129=) rs761110034 0.00002
NM_020166.5(MCCC1):c.388G>A (p.Gly130Ser) rs202197951 0.00002
NM_020166.5(MCCC1):c.428A>T (p.Lys143Met) rs375326791 0.00002
NM_020166.5(MCCC1):c.758C>T (p.Pro253Leu) rs202083272 0.00002
NM_020166.5(MCCC1):c.898A>G (p.Lys300Glu) rs753650692 0.00002
NM_022132.5(MCCC2):c.1124T>C (p.Val375Ala) rs752139859 0.00002
NM_022132.5(MCCC2):c.129+3A>G rs1352606118 0.00002
NM_022132.5(MCCC2):c.1488+10del rs767400522 0.00002
NM_022132.5(MCCC2):c.1665G>T (p.Lys555Asn) rs771011115 0.00002
NM_025136.4(OPA3):c.15G>C (p.Ala5=) rs763315476 0.00002
NM_025136.4(OPA3):c.241G>A (p.Ala81Thr) rs186796646 0.00002
NM_052845.4(MMAB):c.298C>T (p.Leu100=) rs751553040 0.00002
NM_052845.4(MMAB):c.372C>T (p.Val124=) rs371092213 0.00002
NM_052845.4(MMAB):c.373G>A (p.Gly125Ser) rs193015172 0.00002
NM_052845.4(MMAB):c.589G>T (p.Val197Leu) rs780166156 0.00002
NM_054012.4(ASS1):c.920G>A (p.Arg307His) rs571576756 0.00002
NM_153006.3(NAGS):c.1446T>A (p.Asn482Lys) rs915618486 0.00002
NM_153006.3(NAGS):c.350C>T (p.Pro117Leu) rs767257841 0.00002
NM_172250.3(MMAA):c.347A>G (p.Lys116Arg) rs772082690 0.00002
NM_172250.3(MMAA):c.746C>T (p.Ser249Leu) rs746853773 0.00002
NM_172250.3(MMAA):c.904A>T (p.Ile302Leu) rs369128670 0.00002
NM_183050.4(BCKDHB):c.239C>G (p.Ala80Gly) rs371131253 0.00002
NM_183050.4(BCKDHB):c.268A>G (p.Thr90Ala) rs894467213 0.00002
NM_183050.4(BCKDHB):c.79C>T (p.Pro27Ser) rs955755199 0.00002
NM_183050.4(BCKDHB):c.92T>C (p.Leu31Pro) rs763434607 0.00002
NM_201548.5(CERKL):c.1204G>A (p.Val402Ile) rs372755116 0.00002
NM_201548.5(CERKL):c.1315C>T (p.Arg439Trp) rs139300604 0.00002
NM_201548.5(CERKL):c.1466C>G (p.Thr489Ser) rs768292284 0.00002
NM_201548.5(CERKL):c.163G>C (p.Gly55Arg) rs549986396 0.00002
NM_201548.5(CERKL):c.34G>A (p.Ala12Thr) rs376374604 0.00002
NM_205861.3(DHDDS):c.919G>C (p.Glu307Gln) rs762740714 0.00002
NM_000016.6(ACADM):c.1019C>T (p.Ala340Val) rs886042054 0.00001
NM_000016.6(ACADM):c.1090A>G (p.Ile364Val) rs758973773 0.00001
NM_000016.6(ACADM):c.1115C>A (p.Ala372Asp) rs781424858 0.00001
NM_000016.6(ACADM):c.1194+3A>G rs369945009 0.00001
NM_000016.6(ACADM):c.1216A>G (p.Ile406Val) rs1181589709 0.00001
NM_000016.6(ACADM):c.125C>T (p.Thr42Ile) rs759997176 0.00001
NM_000016.6(ACADM):c.277G>A (p.Glu93Lys) rs752612962 0.00001
NM_000016.6(ACADM):c.296G>T (p.Gly99Val) rs370608001 0.00001
NM_000016.6(ACADM):c.581A>G (p.Asn194Ser) rs1010454733 0.00001
NM_000016.6(ACADM):c.599+5G>A rs875989861 0.00001
NM_000016.6(ACADM):c.661G>A (p.Gly221Arg) rs753627680 0.00001
NM_000016.6(ACADM):c.728G>A (p.Arg243Gln) rs373852490 0.00001
NM_000016.6(ACADM):c.92G>A (p.Arg31His) rs529894272 0.00001
NM_000018.4(ACADVL):c.1037C>T (p.Ala346Val) rs1303150138 0.00001
NM_000018.4(ACADVL):c.1052C>A (p.Thr351Asn) rs796051911 0.00001
NM_000018.4(ACADVL):c.1079T>C (p.Val360Ala) rs1284063777 0.00001
NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser) rs758928307 0.00001
NM_000018.4(ACADVL):c.1182+3G>T rs376281637 0.00001
NM_000018.4(ACADVL):c.1269G>A (p.Ser423=) rs765356942 0.00001
NM_000018.4(ACADVL):c.1360G>A (p.Asp454Asn) rs1419606204 0.00001
NM_000018.4(ACADVL):c.1534C>T (p.Arg512Trp) rs371316167 0.00001
NM_000018.4(ACADVL):c.1552G>A (p.Gly518Ser) rs374507980 0.00001
NM_000018.4(ACADVL):c.1599C>T (p.Gly533=) rs779770406 0.00001
NM_000018.4(ACADVL):c.1612C>T (p.Arg538Trp) rs192904909 0.00001
NM_000018.4(ACADVL):c.1678+4A>T rs1057518417 0.00001
NM_000018.4(ACADVL):c.1825G>A (p.Glu609Lys) rs398123086 0.00001
NM_000018.4(ACADVL):c.1964T>A (p.Phe655Tyr) rs377659973 0.00001
NM_000018.4(ACADVL):c.374T>C (p.Leu125Pro) rs1416443472 0.00001
NM_000018.4(ACADVL):c.62+5G>A rs1299140180 0.00001
NM_000018.4(ACADVL):c.628A>C (p.Thr210Pro) rs775400380 0.00001
NM_000018.4(ACADVL):c.707C>T (p.Pro236Leu) rs1336637427 0.00001
NM_000018.4(ACADVL):c.715A>G (p.Lys239Glu) rs776331587 0.00001
NM_000018.4(ACADVL):c.725C>T (p.Thr242Ile) rs769631635 0.00001
NM_000018.4(ACADVL):c.950T>C (p.Val317Ala) rs398123095 0.00001
NM_000018.4(ACADVL):c.95G>A (p.Arg32Gln) rs754806489 0.00001
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg) rs761086326 0.00001
NM_000019.4(ACAT1):c.1200T>C (p.His400=) rs748749897 0.00001
NM_000019.4(ACAT1):c.155T>C (p.Ile52Thr) rs151080188 0.00001
NM_000019.4(ACAT1):c.171C>A (p.Gly57=) rs757128075 0.00001
NM_000019.4(ACAT1):c.489G>T (p.Met163Ile) rs778705529 0.00001
NM_000019.4(ACAT1):c.5C>T (p.Ala2Val) rs915506786 0.00001
NM_000048.4(ASL):c.1020T>G (p.Ser340Arg) rs771476376 0.00001
NM_000048.4(ASL):c.1136G>A (p.Arg379His) rs200853731 0.00001
NM_000048.4(ASL):c.1204G>T (p.Gly402Trp) rs727503812 0.00001
NM_000048.4(ASL):c.507G>C (p.Trp169Cys) rs759952363 0.00001
NM_000048.4(ASL):c.584A>G (p.Asn195Ser) rs1409298819 0.00001
NM_000048.4(ASL):c.722A>C (p.Glu241Ala) rs924321091 0.00001
NM_000048.4(ASL):c.76G>A (p.Ala26Thr) rs775839623 0.00001
NM_000048.4(ASL):c.976C>A (p.Gln326Lys) rs398123129 0.00001
NM_000071.3(CBS):c.1019C>T (p.Ala340Val) rs1282760211 0.00001
NM_000071.3(CBS):c.1070C>G (p.Ala357Gly) rs863223437 0.00001
NM_000071.3(CBS):c.1353G>C (p.Glu451Asp) rs367962613 0.00001
NM_000071.3(CBS):c.1478C>T (p.Thr493Met) rs996249907 0.00001
NM_000071.3(CBS):c.1551G>A (p.Gln517=) rs750311684 0.00001
NM_000071.3(CBS):c.210-3C>T rs562656023 0.00001
NM_000071.3(CBS):c.395G>A (p.Arg132His) rs779011920 0.00001
NM_000071.3(CBS):c.401G>C (p.Gly134Ala) rs766958673 0.00001
NM_000071.3(CBS):c.422C>T (p.Thr141Met) rs771178320 0.00001
NM_000071.3(CBS):c.548C>T (p.Ala183Val) rs374464810 0.00001
NM_000071.3(CBS):c.632A>G (p.Lys211Arg) rs201118737 0.00001
NM_000071.3(CBS):c.68C>T (p.Ser23Leu) rs775785018 0.00001
NM_000071.3(CBS):c.736+5G>A rs750518463 0.00001
NM_000071.3(CBS):c.982G>A (p.Asp328Asn) rs758447354 0.00001
NM_000108.5(DLD):c.1266A>G (p.Pro422=) rs766756785 0.00001
NM_000108.5(DLD):c.1333A>G (p.Lys445Glu) rs1406495040 0.00001
NM_000108.5(DLD):c.1500T>C (p.Ala500=) rs773097788 0.00001
NM_000108.5(DLD):c.199-7G>T rs1358100638 0.00001
NM_000108.5(DLD):c.209T>C (p.Ile70Thr) rs373761188 0.00001
NM_000126.4(ETFA):c.321C>T (p.His107=) rs368550471 0.00001
NM_000126.4(ETFA):c.39G>A (p.Ala13=) rs776956043 0.00001
NM_000126.4(ETFA):c.509G>A (p.Gly170Glu) rs780998008 0.00001
NM_000126.4(ETFA):c.759T>C (p.Asp253=) rs142970498 0.00001
NM_000126.4(ETFA):c.876C>A (p.Asp292Glu) rs778807824 0.00001
NM_000137.4(FAH):c.1159G>A (p.Gly387Arg) rs753539920 0.00001
NM_000137.4(FAH):c.155G>A (p.Gly52Asp) rs780944655 0.00001
NM_000137.4(FAH):c.296A>G (p.Asp99Gly) rs547847694 0.00001
NM_000156.6(GAMT):c.179A>G (p.Lys60Arg) rs1228556317 0.00001
NM_000156.6(GAMT):c.182G>A (p.Gly61Glu) rs77168423 0.00001
NM_000156.6(GAMT):c.224C>T (p.Ala75Val) rs1441030187 0.00001
NM_000156.6(GAMT):c.25A>G (p.Ile9Val) rs1555777381 0.00001
NM_000156.6(GAMT):c.282C>T (p.Gly94=) rs771191011 0.00001
NM_000156.6(GAMT):c.283G>A (p.Val95Ile) rs140778208 0.00001
NM_000156.6(GAMT):c.293G>A (p.Arg98Gln) rs200052696 0.00001
NM_000156.6(GAMT):c.327+5C>T rs1489553949 0.00001
NM_000156.6(GAMT):c.347T>G (p.Leu116Arg) rs765281181 0.00001
NM_000156.6(GAMT):c.367A>G (p.Thr123Ala) rs771827261 0.00001
NM_000156.6(GAMT):c.470T>G (p.Phe157Cys) rs751570656 0.00001
NM_000156.6(GAMT):c.473G>A (p.Arg158His) rs750195151 0.00001
NM_000156.6(GAMT):c.553A>C (p.Ile185Leu) rs757108273 0.00001
NM_000156.6(GAMT):c.560T>C (p.Ile187Thr) rs1421013354 0.00001
NM_000156.6(GAMT):c.583C>G (p.Pro195Ala) rs1285848023 0.00001
NM_000156.6(GAMT):c.586G>A (p.Ala196Thr) rs1355291180 0.00001
NM_000156.6(GAMT):c.601G>A (p.Gly201Ser) rs540554423 0.00001
NM_000156.6(GAMT):c.607C>T (p.Arg203Trp) rs746633494 0.00001
NM_000156.6(GAMT):c.638C>T (p.Ala213Val) rs761535571 0.00001
NM_000156.6(GAMT):c.64G>A (p.Ala22Thr) rs886054248 0.00001
NM_000156.6(GAMT):c.668dup (p.Tyr223Ter) rs781163821 0.00001
NM_000156.6(GAMT):c.689C>T (p.Thr230Met) rs776537906 0.00001
NM_000159.4(GCDH):c.1082+8C>T rs199627852 0.00001
NM_000159.4(GCDH):c.242C>G (p.Pro81Arg) rs780408127 0.00001
NM_000159.4(GCDH):c.300G>A (p.Met100Ile) rs759838598 0.00001
NM_000159.4(GCDH):c.368A>G (p.Tyr123Cys) rs780976048 0.00001
NM_000159.4(GCDH):c.460G>A (p.Ala154Thr) rs759415410 0.00001
NM_000159.4(GCDH):c.647C>T (p.Ser216Leu) rs1449724176 0.00001
NM_000170.3(GLDC):c.1010G>A (p.Arg337Gln) rs138129131 0.00001
NM_000170.3(GLDC):c.1210C>T (p.Leu404=) rs781450542 0.00001
NM_000170.3(GLDC):c.1328G>A (p.Gly443Asp) rs769583276 0.00001
NM_000170.3(GLDC):c.1366C>T (p.Arg456Trp) rs773119895 0.00001
NM_000170.3(GLDC):c.1367G>A (p.Arg456Gln) rs767652664 0.00001
NM_000170.3(GLDC):c.1517G>C (p.Arg506Thr) rs754119942 0.00001
NM_000170.3(GLDC):c.1525C>G (p.Pro509Ala) rs557412758 0.00001
NM_000170.3(GLDC):c.1570G>C (p.Val524Leu) rs751362463 0.00001
NM_000170.3(GLDC):c.163C>G (p.Arg55Gly) rs755680488 0.00001
NM_000170.3(GLDC):c.1640C>G (p.Ser547Cys) rs1320151906 0.00001
NM_000170.3(GLDC):c.1734C>T (p.Asn578=) rs1034614089 0.00001
NM_000170.3(GLDC):c.1817C>T (p.Thr606Ile) rs772777667 0.00001
NM_000170.3(GLDC):c.1871C>T (p.Ala624Val) rs779980470 0.00001
NM_000170.3(GLDC):c.2013T>A (p.Asp671Glu) rs762425284 0.00001
NM_000170.3(GLDC):c.2192T>C (p.Met731Thr) rs763854673 0.00001
NM_000170.3(GLDC):c.2196T>A (p.Asn732Lys) rs386833544 0.00001
NM_000170.3(GLDC):c.2202+6A>G rs368418946 0.00001
NM_000170.3(GLDC):c.230A>G (p.Glu77Gly) rs569728662 0.00001
NM_000170.3(GLDC):c.2332C>G (p.Pro778Ala) rs1476838990 0.00001
NM_000170.3(GLDC):c.255+5G>T rs372569318 0.00001
NM_000170.3(GLDC):c.2570G>A (p.Gly857Asp) rs1455180063 0.00001
NM_000170.3(GLDC):c.2600C>T (p.Thr867Met) rs749852046 0.00001
NM_000170.3(GLDC):c.2684T>C (p.Met895Thr) rs769606225 0.00001
NM_000170.3(GLDC):c.2903T>C (p.Val968Ala) rs554230348 0.00001
NM_000170.3(GLDC):c.2936A>C (p.Glu979Ala) rs550514750 0.00001
NM_000170.3(GLDC):c.2938A>G (p.Asn980Asp) rs772574530 0.00001
NM_000170.3(GLDC):c.346A>G (p.Ile116Val) rs1010145706 0.00001
NM_000170.3(GLDC):c.352G>A (p.Ala118Thr) rs1333702002 0.00001
NM_000170.3(GLDC):c.374G>A (p.Ser125Asn) rs1311286011 0.00001
NM_000170.3(GLDC):c.437C>T (p.Thr146Met) rs376578742 0.00001
NM_000170.3(GLDC):c.544A>G (p.Met182Val) rs541691467 0.00001
NM_000170.3(GLDC):c.589C>G (p.Leu197Val) rs1461615694 0.00001
NM_000170.3(GLDC):c.637C>A (p.His213Asn) rs1210682949 0.00001
NM_000170.3(GLDC):c.646A>G (p.Arg216Gly) rs140411475 0.00001
NM_000170.3(GLDC):c.662T>C (p.Val221Ala) rs1313892401 0.00001
NM_000170.3(GLDC):c.668C>G (p.Pro223Arg) rs201049516 0.00001
NM_000182.5(HADHA):c.1196G>A (p.Arg399Gln) rs200715496 0.00001
NM_000182.5(HADHA):c.1621-7T>C rs774272303 0.00001
NM_000182.5(HADHA):c.1829G>A (p.Arg610Gln) rs373966336 0.00001
NM_000182.5(HADHA):c.1939G>C (p.Asp647His) rs1669533378 0.00001
NM_000182.5(HADHA):c.2193C>A (p.Asp731Glu) rs1348209738 0.00001
NM_000182.5(HADHA):c.241G>A (p.Ala81Thr) rs1281408938 0.00001
NM_000182.5(HADHA):c.425A>G (p.Asn142Ser) rs200549951 0.00001
NM_000182.5(HADHA):c.67+3G>A rs759265828 0.00001
NM_000182.5(HADHA):c.911T>C (p.Ile304Thr) rs369774960 0.00001
NM_000182.5(HADHA):c.982G>A (p.Gly328Arg) rs796051970 0.00001
NM_000191.3(HMGCL):c.502G>A (p.Val168Ile) rs759288306 0.00001
NM_000191.3(HMGCL):c.593A>G (p.Tyr198Cys) rs1303119110 0.00001
NM_000191.3(HMGCL):c.624G>A (p.Val208=) rs747724373 0.00001
NM_000191.3(HMGCL):c.704A>G (p.His235Arg) rs990313450 0.00001
NM_000191.3(HMGCL):c.766G>A (p.Val256Met) rs764238653 0.00001
NM_000191.3(HMGCL):c.858G>A (p.Glu286=) rs376715568 0.00001
NM_000274.4(OAT):c.1286T>C (p.Ile429Thr) rs774831749 0.00001
NM_000274.4(OAT):c.149A>G (p.Tyr50Cys) rs936463102 0.00001
NM_000274.4(OAT):c.416T>G (p.Met139Arg) rs1043163922 0.00001
NM_000274.4(OAT):c.49G>A (p.Gly17Arg) rs760716065 0.00001
NM_000274.4(OAT):c.606G>A (p.Pro202=) rs369806549 0.00001
NM_000274.4(OAT):c.823T>A (p.Trp275Arg) rs947658691 0.00001
NM_000277.3(PAH):c.198A>G (p.Glu66=) rs117308669 0.00001
NM_000277.3(PAH):c.442G>A (p.Gly148Ser) rs80297647 0.00001
NM_000277.3(PAH):c.511G>A (p.Gly171Arg) rs199475613 0.00001
NM_000277.3(PAH):c.811C>T (p.His271Tyr) rs62517164 0.00001
NM_000277.3(PAH):c.970-10T>C rs1485782102 0.00001
NM_000282.4(PCCA):c.1886T>G (p.Phe629Cys) rs1400179119 0.00001
NM_000282.4(PCCA):c.1891G>A (p.Gly631Ser) rs796052018 0.00001
NM_000282.4(PCCA):c.202G>A (p.Val68Ile) rs768750176 0.00001
NM_000282.4(PCCA):c.484G>A (p.Val162Ile) rs1442819667 0.00001
NM_000282.4(PCCA):c.54G>A (p.Gly18=) rs1373903905 0.00001
NM_000282.4(PCCA):c.688C>T (p.Arg230Cys) rs778530330 0.00001
NM_000317.3(PTS):c.228C>T (p.Leu76=) rs772713545 0.00001
NM_000317.3(PTS):c.95G>A (p.Ser32Asn) rs374871539 0.00001
NM_000360.4(TH):c.1076C>T (p.Ser359Leu) rs765379626 0.00001
NM_000360.4(TH):c.1077G>A (p.Ser359=) rs759797905 0.00001
NM_000360.4(TH):c.1233C>T (p.Ala411=) rs768695630 0.00001
NM_000360.4(TH):c.1250C>T (p.Ala417Val) rs756236294 0.00001
NM_000360.4(TH):c.1290C>T (p.Val430=) rs367962981 0.00001
NM_000360.4(TH):c.1301C>G (p.Ser434Cys) rs767211543 0.00001
NM_000360.4(TH):c.1361C>A (p.Pro454His) rs776457245 0.00001
NM_000360.4(TH):c.1430G>A (p.Arg477His) rs78426052 0.00001
NM_000360.4(TH):c.193G>A (p.Gly65Arg) rs780478399 0.00001
NM_000360.4(TH):c.195G>A (p.Gly65=) rs145628270 0.00001
NM_000360.4(TH):c.38G>C (p.Gly13Ala) rs1225376055 0.00001
NM_000360.4(TH):c.43C>T (p.Arg15Cys) rs573547573 0.00001
NM_000360.4(TH):c.474C>T (p.Pro158=) rs531554933 0.00001
NM_000360.4(TH):c.477G>A (p.Ala159=) rs1217513263 0.00001
NM_000360.4(TH):c.517C>A (p.Leu173Met) rs1468608879 0.00001
NM_000360.4(TH):c.562G>C (p.Asp188His) rs757849221 0.00001
NM_000360.4(TH):c.565T>G (p.Leu189Val) rs751996815 0.00001
NM_000360.4(TH):c.576+10G>A rs775488025 0.00001
NM_000360.4(TH):c.584C>T (p.Ser195Leu) rs372409517 0.00001
NM_000360.4(TH):c.5C>T (p.Pro2Leu) rs139474171 0.00001
NM_000360.4(TH):c.604C>T (p.Arg202Cys) rs1021029193 0.00001
NM_000360.4(TH):c.769T>C (p.Leu257=) rs138787428 0.00001
NM_000360.4(TH):c.977+9G>C rs752199740 0.00001
NM_000481.4(AMT):c.1157T>C (p.Met386Thr) rs757170367 0.00001
NM_000481.4(AMT):c.158C>T (p.Ala53Val) rs746916262 0.00001
NM_000481.4(AMT):c.173C>T (p.Pro58Leu) rs1008341193 0.00001
NM_000481.4(AMT):c.298A>G (p.Ser100Gly) rs994868932 0.00001
NM_000481.4(AMT):c.471+9C>T rs760770619 0.00001
NM_000481.4(AMT):c.476A>G (p.Lys159Arg) rs1553638556 0.00001
NM_000481.4(AMT):c.59C>T (p.Pro20Leu) rs749087037 0.00001
NM_000481.4(AMT):c.60G>A (p.Pro20=) rs374750709 0.00001
NM_000481.4(AMT):c.830T>C (p.Ile277Thr) rs1052014497 0.00001
NM_000481.4(AMT):c.883C>T (p.Arg295Cys) rs891522376 0.00001
NM_000481.4(AMT):c.982G>A (p.Ala328Thr) rs765464808 0.00001
NM_000531.6(OTC):c.374C>T (p.Thr125Met) rs72554356 0.00001
NM_000531.6(OTC):c.847G>C (p.Gly283Arg) rs2068530349 0.00001
NM_000532.5(PCCB):c.1370C>T (p.Thr457Ile) rs1301343613 0.00001
NM_000532.5(PCCB):c.1384G>A (p.Val462Ile) rs796052026 0.00001
NM_000532.5(PCCB):c.332G>A (p.Arg111Gln) rs757534748 0.00001
NM_000532.5(PCCB):c.38G>A (p.Arg13Lys) rs1941477030 0.00001
NM_000532.5(PCCB):c.460C>T (p.Pro154Ser) rs1468203736 0.00001
NM_000532.5(PCCB):c.46G>T (p.Val16Phe) rs780842004 0.00001
NM_000532.5(PCCB):c.484G>T (p.Gly162Trp) rs754752068 0.00001
NM_000532.5(PCCB):c.746C>T (p.Thr249Ile) rs779581071 0.00001
NM_000532.5(PCCB):c.876C>G (p.His292Gln) rs776893713 0.00001
NM_000709.4(BCKDHA):c.1055A>G (p.Asn352Ser) rs766755823 0.00001
NM_000709.4(BCKDHA):c.1094G>A (p.Arg365Gln) rs375957868 0.00001
NM_000709.4(BCKDHA):c.1262G>A (p.Arg421His) rs535975575 0.00001
NM_000709.4(BCKDHA):c.359A>G (p.Tyr120Cys) rs764284154 0.00001
NM_000709.4(BCKDHA):c.449A>G (p.Asn150Ser) rs2039284627 0.00001
NM_000709.4(BCKDHA):c.47G>A (p.Gly16Asp) rs766174938 0.00001
NM_000709.4(BCKDHA):c.656C>T (p.Ala219Val) rs532361185 0.00001
NM_000709.4(BCKDHA):c.787T>C (p.Phe263Leu) rs771360993 0.00001
NM_000709.4(BCKDHA):c.919T>C (p.Tyr307His) rs138261404 0.00001
NM_001142800.2(EYS):c.1005G>T (p.Glu335Asp) rs80095433 0.00001
NM_001142800.2(EYS):c.1321A>C (p.Thr441Pro) rs1308471912 0.00001
NM_001142800.2(EYS):c.1381T>A (p.Cys461Ser) rs1471424153 0.00001
NM_001142800.2(EYS):c.1439T>G (p.Val480Gly) rs1163522025 0.00001
NM_001142800.2(EYS):c.152T>C (p.Leu51Ser) rs1489559245 0.00001
NM_001142800.2(EYS):c.1568C>T (p.Ser523Leu) rs556989074 0.00001
NM_001142800.2(EYS):c.1591A>C (p.Thr531Pro) rs1260633321 0.00001
NM_001142800.2(EYS):c.1655A>T (p.Tyr552Phe) rs369437226 0.00001
NM_001142800.2(EYS):c.1871C>T (p.Ser624Leu) rs548565748 0.00001
NM_001142800.2(EYS):c.2269T>C (p.Cys757Arg) rs1051101987 0.00001
NM_001142800.2(EYS):c.2378A>G (p.Tyr793Cys) rs1248002900 0.00001
NM_001142800.2(EYS):c.2423A>C (p.Glu808Ala) rs1329809440 0.00001
NM_001142800.2(EYS):c.2495A>G (p.Gln832Arg) rs1459583624 0.00001
NM_001142800.2(EYS):c.2622G>T (p.Gln874His) rs377592930 0.00001
NM_001142800.2(EYS):c.2644T>C (p.Phe882Leu) rs759172997 0.00001
NM_001142800.2(EYS):c.2662G>A (p.Glu888Lys) rs1345091519 0.00001
NM_001142800.2(EYS):c.2898T>G (p.Asp966Glu) rs1248778370 0.00001
NM_001142800.2(EYS):c.2944G>T (p.Val982Phe) rs1347071957 0.00001
NM_001142800.2(EYS):c.3069C>G (p.Ile1023Met) rs913116063 0.00001
NM_001142800.2(EYS):c.3083G>C (p.Cys1028Ser) rs1407301072 0.00001
NM_001142800.2(EYS):c.360G>A (p.Thr120=) rs745859722 0.00001
NM_001142800.2(EYS):c.3688T>A (p.Cys1230Ser) rs1258171232 0.00001
NM_001142800.2(EYS):c.3731C>T (p.Thr1244Ile) rs531860176 0.00001
NM_001142800.2(EYS):c.3877+6T>C rs937888425 0.00001
NM_001142800.2(EYS):c.3922A>G (p.Thr1308Ala) rs1223693086 0.00001
NM_001142800.2(EYS):c.3941G>A (p.Arg1314Lys) rs1330067403 0.00001
NM_001142800.2(EYS):c.4190C>A (p.Ser1397Tyr) rs892657143 0.00001
NM_001142800.2(EYS):c.41T>C (p.Phe14Ser) rs767517924 0.00001
NM_001142800.2(EYS):c.4216A>G (p.Thr1406Ala) rs866402714 0.00001
NM_001142800.2(EYS):c.4339G>C (p.Gly1447Arg) rs1459655912 0.00001
NM_001142800.2(EYS):c.4432A>G (p.Ile1478Val) rs968087660 0.00001
NM_001142800.2(EYS):c.4503A>G (p.Ile1501Met) rs765829827 0.00001
NM_001142800.2(EYS):c.4718A>C (p.Gln1573Pro) rs1248199893 0.00001
NM_001142800.2(EYS):c.47G>T (p.Ser16Ile) rs755010017 0.00001
NM_001142800.2(EYS):c.4805C>T (p.Ala1602Val) rs1353073807 0.00001
NM_001142800.2(EYS):c.4841C>G (p.Ala1614Gly) rs1312195779 0.00001
NM_001142800.2(EYS):c.4843A>G (p.Thr1615Ala) rs566502407 0.00001
NM_001142800.2(EYS):c.4964T>C (p.Leu1655Ser) rs765407986 0.00001
NM_001142800.2(EYS):c.5100A>T (p.Lys1700Asn) rs1267480820 0.00001
NM_001142800.2(EYS):c.5264A>T (p.Asp1755Val) rs1185867411 0.00001
NM_001142800.2(EYS):c.5279C>G (p.Thr1760Arg) rs1423659317 0.00001
NM_001142800.2(EYS):c.5395A>G (p.Thr1799Ala) rs144694451 0.00001
NM_001142800.2(EYS):c.5618T>G (p.Leu1873Arg) rs750613634 0.00001
NM_001142800.2(EYS):c.5644+5G>A rs794727412 0.00001
NM_001142800.2(EYS):c.5681T>C (p.Leu1894Pro) rs780566602 0.00001
NM_001142800.2(EYS):c.5836-3C>T rs748977292 0.00001
NM_001142800.2(EYS):c.5953G>A (p.Glu1985Lys) rs1196390028 0.00001
NM_001142800.2(EYS):c.5959A>C (p.Thr1987Pro) rs1278246029 0.00001
NM_001142800.2(EYS):c.6047G>A (p.Gly2016Asp) rs886061672 0.00001
NM_001142800.2(EYS):c.6104C>A (p.Thr2035Asn) rs1769478067 0.00001
NM_001142800.2(EYS):c.6316G>T (p.Asp2106Tyr) rs369266984 0.00001
NM_001142800.2(EYS):c.6485A>C (p.Lys2162Thr) rs1039415909 0.00001
NM_001142800.2(EYS):c.6485A>T (p.Lys2162Met) rs1039415909 0.00001
NM_001142800.2(EYS):c.6626G>A (p.Arg2209Lys) rs761797334 0.00001
NM_001142800.2(EYS):c.6696C>A (p.Asn2232Lys) rs946318214 0.00001
NM_001142800.2(EYS):c.6724C>T (p.Arg2242Cys) rs990350691 0.00001
NM_001142800.2(EYS):c.6782A>G (p.Asp2261Gly) rs893275648 0.00001
NM_001142800.2(EYS):c.6850A>G (p.Met2284Val) rs1767268298 0.00001
NM_001142800.2(EYS):c.6911G>A (p.Gly2304Glu) rs773046364 0.00001
NM_001142800.2(EYS):c.6929T>C (p.Leu2310Pro) rs1253820214 0.00001
NM_001142800.2(EYS):c.6967G>A (p.Asp2323Asn) rs747666847 0.00001
NM_001142800.2(EYS):c.7048T>C (p.Cys2350Arg) rs935531910 0.00001
NM_001142800.2(EYS):c.7222A>G (p.Thr2408Ala) rs1418033120 0.00001
NM_001142800.2(EYS):c.7274G>A (p.Gly2425Glu) rs1201593554 0.00001
NM_001142800.2(EYS):c.7300C>T (p.Arg2434Trp) rs1234060098 0.00001
NM_001142800.2(EYS):c.7356C>A (p.Asn2452Lys) rs566843175 0.00001
NM_001142800.2(EYS):c.7471T>G (p.Tyr2491Asp) rs1306301546 0.00001
NM_001142800.2(EYS):c.7591A>G (p.Lys2531Glu) rs1037212478 0.00001
NM_001142800.2(EYS):c.7723+6G>A rs773926989 0.00001
NM_001142800.2(EYS):c.7851G>T (p.Met2617Ile) rs1012336027 0.00001
NM_001142800.2(EYS):c.7861A>G (p.Asn2621Asp) rs1193588140 0.00001
NM_001142800.2(EYS):c.7873T>C (p.Cys2625Arg) rs751128329 0.00001
NM_001142800.2(EYS):c.8088T>A (p.Asp2696Glu) rs780632755 0.00001
NM_001142800.2(EYS):c.8206G>C (p.Ala2736Pro) rs1250317776 0.00001
NM_001142800.2(EYS):c.832T>C (p.Phe278Leu) rs773704807 0.00001
NM_001142800.2(EYS):c.8414C>A (p.Thr2805Lys) rs752557263 0.00001
NM_001142800.2(EYS):c.8499T>A (p.Asn2833Lys) rs1420315601 0.00001
NM_001142800.2(EYS):c.853C>A (p.Gln285Lys) rs988163418 0.00001
NM_001142800.2(EYS):c.867A>G (p.Pro289=) rs746039939 0.00001
NM_001142800.2(EYS):c.8680G>A (p.Gly2894Ser) rs971882330 0.00001
NM_001142800.2(EYS):c.8723A>G (p.Asn2908Ser) rs761809527 0.00001
NM_001142800.2(EYS):c.8793A>G (p.Gln2931=) rs1215751447 0.00001
NM_001142800.2(EYS):c.8851A>G (p.Lys2951Glu) rs1186427936 0.00001
NM_001142800.2(EYS):c.8879T>C (p.Met2960Thr) rs982064061 0.00001
NM_001142800.2(EYS):c.8946A>G (p.Ile2982Met) rs1197940044 0.00001
NM_001142800.2(EYS):c.9060A>G (p.Ile3020Met) rs898622662 0.00001
NM_001142800.2(EYS):c.9061G>C (p.Ala3021Pro) rs569561277 0.00001
NM_001142800.2(EYS):c.9088G>A (p.Val3030Met) rs940065327 0.00001
NM_001142800.2(EYS):c.9420A>C (p.Gln3140His) rs898765917 0.00001
NM_001201543.2(FAM161A):c.1012C>T (p.Arg338Trp) rs1382874045 0.00001
NM_001201543.2(FAM161A):c.1018A>G (p.Lys340Glu) rs569307291 0.00001
NM_001201543.2(FAM161A):c.1064T>G (p.Phe355Cys) rs1236579870 0.00001
NM_001201543.2(FAM161A):c.1111G>T (p.Asp371Tyr) rs752075492 0.00001
NM_001201543.2(FAM161A):c.1136A>G (p.Tyr379Cys) rs775782170 0.00001
NM_001201543.2(FAM161A):c.1328C>T (p.Ser443Leu) rs189711603 0.00001
NM_001201543.2(FAM161A):c.1356A>G (p.Thr452=) rs760376720 0.00001
NM_001201543.2(FAM161A):c.1462T>G (p.Trp488Gly) rs767214705 0.00001
NM_001201543.2(FAM161A):c.1483C>T (p.Arg495Cys) rs759263986 0.00001
NM_001201543.2(FAM161A):c.1576G>A (p.Ala526Thr) rs768632779 0.00001
NM_001201543.2(FAM161A):c.1684C>T (p.Arg562Trp) rs758751186 0.00001
NM_001201543.2(FAM161A):c.1804G>A (p.Glu602Lys) rs769359884 0.00001
NM_001201543.2(FAM161A):c.1821G>C (p.Lys607Asn) rs777678039 0.00001
NM_001201543.2(FAM161A):c.182C>T (p.Ser61Leu) rs374779101 0.00001
NM_001201543.2(FAM161A):c.1907G>A (p.Gly636Glu) rs188276373 0.00001
NM_001201543.2(FAM161A):c.1967A>T (p.Asn656Ile) rs770123645 0.00001
NM_001201543.2(FAM161A):c.1968_1969insTGA (p.Asn657Ter) rs770515598 0.00001
NM_001201543.2(FAM161A):c.252C>T (p.Asn84=) rs561697683 0.00001
NM_001201543.2(FAM161A):c.337T>C (p.Leu113=) rs757443871 0.00001
NM_001201543.2(FAM161A):c.422+3A>T rs373374401 0.00001
NM_001201543.2(FAM161A):c.590A>G (p.Glu197Gly) rs763593903 0.00001
NM_001201543.2(FAM161A):c.698T>C (p.Val233Ala) rs553732379 0.00001
NM_001201543.2(FAM161A):c.775A>G (p.Lys259Glu) rs1227350190 0.00001
NM_001243279.3(ACSF3):c.1013C>T (p.Pro338Leu) rs779630954 0.00001
NM_001243279.3(ACSF3):c.1096G>A (p.Gly366Arg) rs142288136 0.00001
NM_001243279.3(ACSF3):c.1127-7C>G rs761564953 0.00001
NM_001243279.3(ACSF3):c.119C>T (p.Ser40Leu) rs747598756 0.00001
NM_001243279.3(ACSF3):c.1366+8C>T rs773327286 0.00001
NM_001243279.3(ACSF3):c.1621C>T (p.Leu541=) rs149803422 0.00001
NM_001243279.3(ACSF3):c.179T>G (p.Val60Gly) rs780402535 0.00001
NM_001243279.3(ACSF3):c.190G>A (p.Gly64Ser) rs200536797 0.00001
NM_001243279.3(ACSF3):c.356G>A (p.Gly119Asp) rs754782061 0.00001
NM_001243279.3(ACSF3):c.357C>T (p.Gly119=) rs182147718 0.00001
NM_001243279.3(ACSF3):c.431C>T (p.Ser144Phe) rs774006659 0.00001
NM_001243279.3(ACSF3):c.436G>A (p.Val146Ile) rs1184480709 0.00001
NM_001243279.3(ACSF3):c.507G>A (p.Pro169=) rs775166866 0.00001
NM_001243279.3(ACSF3):c.673G>A (p.Gly225Arg) rs775694971 0.00001
NM_001243279.3(ACSF3):c.701A>T (p.Lys234Ile) rs763367217 0.00001
NM_001243279.3(ACSF3):c.877G>A (p.Val293Met) rs770598442 0.00001
NM_001352514.2(HLCS):c.1369G>A (p.Glu457Lys) rs763927037 0.00001
NM_001352514.2(HLCS):c.1719C>T (p.Tyr573=) rs148814769 0.00001
NM_001352514.2(HLCS):c.1918A>G (p.Met640Val) rs772156741 0.00001
NM_001352514.2(HLCS):c.2135G>A (p.Arg712Gln) rs769446135 0.00001
NM_001352514.2(HLCS):c.2225A>G (p.Tyr742Cys) rs1464046978 0.00001
NM_001352514.2(HLCS):c.2371C>G (p.Leu791Val) rs748447457 0.00001
NM_001352514.2(HLCS):c.2567C>T (p.Pro856Leu) rs1260631800 0.00001
NM_001370658.1(BTD):c.1043A>C (p.Asp348Ala) rs886058115 0.00001
NM_001370658.1(BTD):c.1151C>T (p.Thr384Ile) rs397514405 0.00001
NM_001370658.1(BTD):c.1189G>A (p.Val397Ile) rs397514409 0.00001
NM_001370658.1(BTD):c.385T>C (p.Phe129Leu) rs397514359 0.00001
NM_001370658.1(BTD):c.455A>G (p.Asn152Ser) rs397514366 0.00001
NM_001370658.1(BTD):c.481A>G (p.Ser161Gly) rs541012569 0.00001
NM_001370658.1(BTD):c.545A>G (p.Asn182Ser) rs397514376 0.00001
NM_001370658.1(BTD):c.649G>A (p.Ala217Thr) rs397514381 0.00001
NM_001875.5(CPS1):c.1092T>G (p.Ile364Met) rs772077620 0.00001
NM_001875.5(CPS1):c.1208C>G (p.Ala403Gly) rs754023105 0.00001
NM_001875.5(CPS1):c.1456C>T (p.Pro486Ser) rs1419745583 0.00001
NM_001875.5(CPS1):c.1673A>G (p.Asn558Ser) rs1698690768 0.00001
NM_001875.5(CPS1):c.1708-5G>A rs571670790 0.00001
NM_001875.5(CPS1):c.2441G>A (p.Arg814Gln) rs200731808 0.00001
NM_001875.5(CPS1):c.2945G>T (p.Gly982Val) rs121912595 0.00001
NM_001875.5(CPS1):c.3272T>G (p.Ile1091Ser) rs538878532 0.00001
NM_001875.5(CPS1):c.3303G>A (p.Val1101=) rs774531676 0.00001
NM_001875.5(CPS1):c.3464C>T (p.Ala1155Val) rs766125631 0.00001
NM_001875.5(CPS1):c.3521G>A (p.Arg1174Gln) rs553145464 0.00001
NM_001875.5(CPS1):c.3552T>G (p.Asp1184Glu) rs769391518 0.00001
NM_001875.5(CPS1):c.3683G>A (p.Arg1228Gln) rs778117194 0.00001
NM_001875.5(CPS1):c.390T>A (p.Gly130=) rs577598098 0.00001
NM_001875.5(CPS1):c.4112G>A (p.Arg1371Gln) rs765106604 0.00001
NM_001875.5(CPS1):c.4172C>T (p.Thr1391Met) rs1392934477 0.00001
NM_001875.5(CPS1):c.586A>G (p.Asn196Asp) rs770935194 0.00001
NM_001875.5(CPS1):c.655A>G (p.Lys219Glu) rs769324029 0.00001
NM_001875.5(CPS1):c.697C>T (p.Arg233Cys) rs767905306 0.00001
NM_001875.5(CPS1):c.856C>T (p.Arg286Cys) rs202130487 0.00001
NM_001876.4(CPT1A):c.116G>C (p.Trp39Ser) rs766209790 0.00001
NM_001876.4(CPT1A):c.1199G>C (p.Gly400Ala) rs889632692 0.00001
NM_001876.4(CPT1A):c.1268C>T (p.Thr423Ile) rs1198520664 0.00001
NM_001876.4(CPT1A):c.1393G>A (p.Gly465Arg) rs80356784 0.00001
NM_001876.4(CPT1A):c.1449C>A (p.His483Gln) rs1165511243 0.00001
NM_001876.4(CPT1A):c.1500G>A (p.Glu500=) rs760474415 0.00001
NM_001876.4(CPT1A):c.1654G>A (p.Val552Ile) rs764692013 0.00001
NM_001876.4(CPT1A):c.1720C>T (p.Leu574Phe) rs1484699196 0.00001
NM_001876.4(CPT1A):c.1865C>T (p.Pro622Leu) rs776782808 0.00001
NM_001876.4(CPT1A):c.247A>G (p.Ile83Val) rs748174436 0.00001
NM_001876.4(CPT1A):c.263A>G (p.Asn88Ser) rs781040444 0.00001
NM_001876.4(CPT1A):c.265C>T (p.Arg89Trp) rs574346392 0.00001
NM_001876.4(CPT1A):c.292T>A (p.Ser98Thr) rs201446439 0.00001
NM_001876.4(CPT1A):c.319G>A (p.Gly107Ser) rs773497434 0.00001
NM_001876.4(CPT1A):c.557A>G (p.Tyr186Cys) rs759188040 0.00001
NM_001876.4(CPT1A):c.56T>C (p.Ile19Thr) rs1306340710 0.00001
NM_001876.4(CPT1A):c.916G>A (p.Ala306Thr) rs775746905 0.00001
NM_002225.5(IVD):c.1010G>A (p.Arg337Gln) rs139908696 0.00001
NM_002225.5(IVD):c.1160A>G (p.Asp387Gly) rs1163816425 0.00001
NM_002225.5(IVD):c.202A>G (p.Ile68Val) rs758926864 0.00001
NM_002225.5(IVD):c.307C>G (p.Leu103Val) rs1465206137 0.00001
NM_002225.5(IVD):c.456G>A (p.Lys152=) rs886044117 0.00001
NM_002225.5(IVD):c.539C>T (p.Ala180Val) rs559732306 0.00001
NM_002225.5(IVD):c.710C>T (p.Ser237Phe) rs1891244554 0.00001
NM_002225.5(IVD):c.784+9C>T rs1891254953 0.00001
NM_002225.5(IVD):c.796C>G (p.Leu266Val) rs766980574 0.00001
NM_002225.5(IVD):c.803A>G (p.His268Arg) rs201778625 0.00001
NM_002454.3(MTRR):c.1035A>G (p.Ile345Met) rs140944718 0.00001
NM_002454.3(MTRR):c.1086G>A (p.Ala362=) rs750381895 0.00001
NM_002454.3(MTRR):c.1135A>G (p.Ile379Val) rs746404785 0.00001
NM_002454.3(MTRR):c.1253G>A (p.Arg418Gln) rs749461781 0.00001
NM_002454.3(MTRR):c.1769+8A>G rs892239997 0.00001
NM_002454.3(MTRR):c.1844T>C (p.Val615Ala) rs1318949494 0.00001
NM_002454.3(MTRR):c.1890G>A (p.Gln630=) rs9282786 0.00001
NM_002454.3(MTRR):c.399A>G (p.Val133=) rs560392566 0.00001
NM_002454.3(MTRR):c.832A>G (p.Ile278Val) rs1377146830 0.00001
NM_003060.4(SLC22A5):c.1021C>T (p.Arg341Trp) rs780990156 0.00001
NM_003060.4(SLC22A5):c.1055T>G (p.Met352Arg) rs1275349783 0.00001
NM_003060.4(SLC22A5):c.113C>A (p.Ser38Tyr) rs369354736 0.00001
NM_003060.4(SLC22A5):c.122T>G (p.Phe41Cys) rs1335556134 0.00001
NM_003060.4(SLC22A5):c.1238T>G (p.Val413Gly) rs1224278173 0.00001
NM_003060.4(SLC22A5):c.1360T>C (p.Tyr454His) rs766555353 0.00001
NM_003060.4(SLC22A5):c.1641A>C (p.Glu547Asp) rs1485984674 0.00001
NM_003060.4(SLC22A5):c.217G>C (p.Asp73His) rs778137386 0.00001
NM_003060.4(SLC22A5):c.221G>A (p.Gly74Asp) rs1031179639 0.00001
NM_003060.4(SLC22A5):c.244C>A (p.Arg82Ser) rs955061461 0.00001
NM_003060.4(SLC22A5):c.244C>T (p.Arg82Cys) rs955061461 0.00001
NM_003060.4(SLC22A5):c.254G>A (p.Arg85Gln) rs761608940 0.00001
NM_003060.4(SLC22A5):c.26C>T (p.Ala9Val) rs753998904 0.00001
NM_003060.4(SLC22A5):c.298G>C (p.Gly100Arg) rs779263168 0.00001
NM_003060.4(SLC22A5):c.349T>C (p.Trp117Arg) rs398123692 0.00001
NM_003060.4(SLC22A5):c.363G>T (p.Gln121His) rs758991830 0.00001
NM_003060.4(SLC22A5):c.371A>G (p.Tyr124Cys) rs762126547 0.00001
NM_003060.4(SLC22A5):c.382A>G (p.Ile128Val) rs772405276 0.00001
NM_003060.4(SLC22A5):c.397A>C (p.Asn133His) rs1268928609 0.00001
NM_003060.4(SLC22A5):c.613A>C (p.Met205Leu) rs1322301830 0.00001
NM_003060.4(SLC22A5):c.763G>A (p.Asp255Asn) rs774619135 0.00001
NM_003060.4(SLC22A5):c.785C>T (p.Ala262Val) rs752989096 0.00001
NM_003060.4(SLC22A5):c.850C>T (p.Leu284Phe) rs150278881 0.00001
NM_003060.4(SLC22A5):c.911A>G (p.Asn304Ser) rs746559733 0.00001
NM_003060.4(SLC22A5):c.961C>G (p.Leu321Val) rs761264590 0.00001
NM_003982.4(SLC7A7):c.1125G>C (p.Val375=) rs371346432 0.00001
NM_003982.4(SLC7A7):c.1189A>G (p.Ile397Val) rs756936473 0.00001
NM_003982.4(SLC7A7):c.1262C>T (p.Pro421Leu) rs756903324 0.00001
NM_003982.4(SLC7A7):c.1403G>A (p.Arg468Gln) rs746907619 0.00001
NM_003982.4(SLC7A7):c.1451A>G (p.Gln484Arg) rs773635994 0.00001
NM_003982.4(SLC7A7):c.1497A>C (p.Gly499=) rs1566438384 0.00001
NM_003982.4(SLC7A7):c.208G>C (p.Gly70Arg) rs1195832434 0.00001
NM_003982.4(SLC7A7):c.313G>A (p.Ala105Thr) rs775943127 0.00001
NM_003982.4(SLC7A7):c.380T>C (p.Ile127Thr) rs764284986 0.00001
NM_003982.4(SLC7A7):c.585G>A (p.Leu195=) rs768649205 0.00001
NM_003982.4(SLC7A7):c.590C>T (p.Ala197Val) rs780597284 0.00001
NM_003982.4(SLC7A7):c.860T>G (p.Met287Arg) rs755142027 0.00001
NM_003982.4(SLC7A7):c.998+9G>C rs1350841635 0.00001
NM_004453.4(ETFDH):c.1345T>C (p.Tyr449His) rs750799644 0.00001
NM_004453.4(ETFDH):c.1378G>A (p.Gly460Arg) rs989125087 0.00001
NM_004453.4(ETFDH):c.148C>T (p.Pro50Ser) rs937646249 0.00001
NM_004453.4(ETFDH):c.1668C>T (p.Pro556=) rs747312700 0.00001
NM_004453.4(ETFDH):c.1669G>A (p.Glu557Lys) rs1279728239 0.00001
NM_004453.4(ETFDH):c.1676G>A (p.Arg559Gln) rs768961719 0.00001
NM_004453.4(ETFDH):c.1678T>C (p.Phe560Leu) rs374585539 0.00001
NM_004453.4(ETFDH):c.1758T>C (p.Cys586=) rs755342205 0.00001
NM_004453.4(ETFDH):c.586C>G (p.Pro196Ala) rs201067972 0.00001
NM_004453.4(ETFDH):c.679C>A (p.Pro227Thr) rs141407224 0.00001
NM_004453.4(ETFDH):c.814G>A (p.Gly272Arg) rs763541530 0.00001
NM_005957.5(MTHFR):c.1002G>A (p.Lys334=) rs147727428 0.00001
NM_005957.5(MTHFR):c.1014G>A (p.Met338Ile) rs766683363 0.00001
NM_005957.5(MTHFR):c.1263G>C (p.Trp421Cys) rs200688214 0.00001
NM_005957.5(MTHFR):c.1622T>C (p.Val541Ala) rs779726227 0.00001
NM_005957.5(MTHFR):c.1667C>T (p.Pro556Leu) rs747712448 0.00001
NM_005957.5(MTHFR):c.382A>G (p.Met128Val) rs202095816 0.00001
NM_005957.5(MTHFR):c.773C>G (p.Pro258Arg) rs1553186124 0.00001
NM_006623.4(PHGDH):c.129G>A (p.Ala43=) rs587623477 0.00001
NM_006623.4(PHGDH):c.487C>T (p.Arg163Trp) rs772067625 0.00001
NM_006623.4(PHGDH):c.566A>C (p.Gln189Pro) rs750124525 0.00001
NM_006623.4(PHGDH):c.707G>A (p.Arg236His) rs776544484 0.00001
NM_006623.4(PHGDH):c.880C>T (p.Arg294Cys) rs1390624793 0.00001
NM_014049.5(ACAD9):c.1029+10G>C rs377266080 0.00001
NM_014049.5(ACAD9):c.509C>T (p.Ala170Val) rs762521317 0.00001
NM_014251.3(SLC25A13):c.1147C>T (p.Arg383Cys) rs983514448 0.00001
NM_014251.3(SLC25A13):c.1547G>A (p.Gly516Glu) rs763244253 0.00001
NM_014251.3(SLC25A13):c.1660G>A (p.Ala554Thr) rs774907889 0.00001
NM_014251.3(SLC25A13):c.173T>C (p.Val58Ala) rs1397231627 0.00001
NM_014251.3(SLC25A13):c.809A>G (p.Asp270Gly) rs751343245 0.00001
NM_014251.3(SLC25A13):c.874C>T (p.Arg292Trp) rs142308242 0.00001
NM_014251.3(SLC25A13):c.922G>A (p.Ala308Thr) rs922613966 0.00001
NM_014252.4(SLC25A15):c.134G>A (p.Arg45Gln) rs201647638 0.00001
NM_014252.4(SLC25A15):c.292T>A (p.Leu98Met) rs752943501 0.00001
NM_014252.4(SLC25A15):c.701A>T (p.Lys234Ile) rs780409673 0.00001
NM_014252.4(SLC25A15):c.781+9A>G rs1353571695 0.00001
NM_015506.3(MMACHC):c.230A>G (p.Asp77Gly) rs1217366809 0.00001
NM_015506.3(MMACHC):c.406G>A (p.Glu136Lys) rs374086070 0.00001
NM_015506.3(MMACHC):c.687A>G (p.Gln229=) rs369621922 0.00001
NM_015702.3(MMADHC):c.152T>C (p.Ile51Thr) rs755472574 0.00001
NM_015702.3(MMADHC):c.41A>G (p.Tyr14Cys) rs756550492 0.00001
NM_015702.3(MMADHC):c.742C>T (p.Arg248Cys) rs544727246 0.00001
NM_020166.5(MCCC1):c.1048A>G (p.Ile350Val) rs965802215 0.00001
NM_020166.5(MCCC1):c.1147G>A (p.Glu383Lys) rs1333357031 0.00001
NM_020166.5(MCCC1):c.1259T>C (p.Val420Ala) rs946293038 0.00001
NM_020166.5(MCCC1):c.1261C>T (p.Arg421Trp) rs764744442 0.00001
NM_020166.5(MCCC1):c.1330C>T (p.Arg444Cys) rs375996272 0.00001
NM_020166.5(MCCC1):c.1366C>T (p.Arg456Cys) rs369847846 0.00001
NM_020166.5(MCCC1):c.1632A>C (p.Arg544Ser) rs1553853001 0.00001
NM_020166.5(MCCC1):c.1703A>G (p.Tyr568Cys) rs1577245387 0.00001
NM_020166.5(MCCC1):c.1842G>A (p.Leu614=) rs758827154 0.00001
NM_020166.5(MCCC1):c.208A>G (p.Lys70Glu) rs750133436 0.00001
NM_020166.5(MCCC1):c.314A>G (p.Gln105Arg) rs746430473 0.00001
NM_020166.5(MCCC1):c.373A>G (p.Ile125Val) rs780072787 0.00001
NM_020166.5(MCCC1):c.492-4A>G rs908545297 0.00001
NM_020166.5(MCCC1):c.596G>T (p.Gly199Val) rs1198116993 0.00001
NM_020166.5(MCCC1):c.635G>C (p.Gly212Ala) rs749287771 0.00001
NM_020166.5(MCCC1):c.694C>T (p.Arg232Trp) rs727504004 0.00001
NM_020166.5(MCCC1):c.83C>T (p.Pro28Leu) rs1164035251 0.00001
NM_020166.5(MCCC1):c.842G>A (p.Arg281Gln) rs754437245 0.00001
NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly) rs746500530 0.00001
NM_020166.5(MCCC1):c.877G>A (p.Gly293Ser) rs974953181 0.00001
NM_022132.5(MCCC2):c.*6A>G rs1249235767 0.00001
NM_022132.5(MCCC2):c.1043A>G (p.Lys348Arg) rs759809368 0.00001
NM_022132.5(MCCC2):c.1108G>A (p.Val370Ile) rs760363054 0.00001
NM_022132.5(MCCC2):c.1300G>C (p.Val434Leu) rs758506791 0.00001
NM_022132.5(MCCC2):c.1441G>A (p.Val481Met) rs767575019 0.00001
NM_022132.5(MCCC2):c.1474C>T (p.Arg492Trp) rs531891095 0.00001
NM_022132.5(MCCC2):c.1488G>C (p.Gln496His) rs745367639 0.00001
NM_022132.5(MCCC2):c.1619T>A (p.Val540Asp) rs766384881 0.00001
NM_022132.5(MCCC2):c.1640C>T (p.Ala547Val) rs778172446 0.00001
NM_022132.5(MCCC2):c.1653A>G (p.Ala551=) rs749529082 0.00001
NM_022132.5(MCCC2):c.258A>G (p.Arg86=) rs550220664 0.00001
NM_022132.5(MCCC2):c.385G>A (p.Val129Ile) rs1214498152 0.00001
NM_022132.5(MCCC2):c.478G>A (p.Ala160Thr) rs727504009 0.00001
NM_022132.5(MCCC2):c.578G>A (p.Arg193His) rs535519604 0.00001
NM_022132.5(MCCC2):c.665A>G (p.Tyr222Cys) rs753735697 0.00001
NM_022132.5(MCCC2):c.815T>G (p.Val272Gly) rs1199145486 0.00001
NM_022132.5(MCCC2):c.851T>C (p.Leu284Pro) rs376237028 0.00001
NM_025136.4(OPA3):c.416A>G (p.Gln139Arg) rs1399150102 0.00001
NM_052845.4(MMAB):c.116G>A (p.Gly39Asp) rs1466525448 0.00001
NM_052845.4(MMAB):c.184A>G (p.Thr62Ala) rs759809454 0.00001
NM_052845.4(MMAB):c.247T>C (p.Phe83Leu) rs571555515 0.00001
NM_052845.4(MMAB):c.349-10C>T rs896742047 0.00001
NM_052845.4(MMAB):c.41G>A (p.Ser14Asn) rs755568905 0.00001
NM_052845.4(MMAB):c.424T>C (p.Tyr142His) rs886198506 0.00001
NM_052845.4(MMAB):c.516G>T (p.Leu172=) rs914000089 0.00001
NM_052845.4(MMAB):c.522G>A (p.Ser174=) rs545625368 0.00001
NM_052845.4(MMAB):c.625G>A (p.Val209Met) rs200903284 0.00001
NM_052845.4(MMAB):c.99G>A (p.Gln33=) rs749127574 0.00001
NM_054012.4(ASS1):c.1051G>A (p.Val351Met) rs773909247 0.00001
NM_054012.4(ASS1):c.247T>C (p.Tyr83His) rs753659761 0.00001
NM_054012.4(ASS1):c.556A>G (p.Met186Val) rs1845851030 0.00001
NM_054012.4(ASS1):c.577G>A (p.Gly193Arg) rs1311437424 0.00001
NM_054012.4(ASS1):c.647C>A (p.Ala216Asp) rs1043964127 0.00001
NM_054012.4(ASS1):c.712G>A (p.Val238Ile) rs368414392 0.00001
NM_054012.4(ASS1):c.771C>T (p.Val257=) rs547904731 0.00001
NM_054012.4(ASS1):c.965A>G (p.Tyr322Cys) rs373473841 0.00001
NM_054012.4(ASS1):c.969C>T (p.Thr323=) rs756487535 0.00001
NM_054012.4(ASS1):c.970+4C>T rs1460424492 0.00001
NM_153006.3(NAGS):c.1113C>A (p.Phe371Leu) rs755872617 0.00001
NM_153006.3(NAGS):c.1204A>C (p.Lys402Gln) rs984226051 0.00001
NM_153006.3(NAGS):c.1270T>A (p.Tyr424Asn) rs1555620800 0.00001
NM_153006.3(NAGS):c.1597G>A (p.Gly533Ser) rs139304608 0.00001
NM_172250.3(MMAA):c.129G>A (p.Pro43=) rs779779664 0.00001
NM_172250.3(MMAA):c.304G>A (p.Ala102Thr) rs1328584680 0.00001
NM_172250.3(MMAA):c.367C>T (p.Leu123Phe) rs965827040 0.00001
NM_172250.3(MMAA):c.676G>A (p.Glu226Lys) rs1036460255 0.00001
NM_172250.3(MMAA):c.67T>C (p.Cys23Arg) rs889048711 0.00001
NM_172250.3(MMAA):c.722T>C (p.Ile241Thr) rs371068331 0.00001
NM_172250.3(MMAA):c.734-7A>G rs753938949 0.00001
NM_172250.3(MMAA):c.824T>C (p.Ile275Thr) rs1204400776 0.00001
NM_172250.3(MMAA):c.86A>G (p.His29Arg) rs367809749 0.00001
NM_183050.4(BCKDHB):c.1025G>C (p.Ser342Thr) rs759040971 0.00001
NM_183050.4(BCKDHB):c.1132G>A (p.Asp378Asn) rs970365846 0.00001
NM_183050.4(BCKDHB):c.119C>T (p.Ala40Val) rs752892659 0.00001
NM_183050.4(BCKDHB):c.245A>G (p.Asp82Gly) rs150769284 0.00001
NM_183050.4(BCKDHB):c.24C>T (p.Ala8=) rs558448066 0.00001
NM_183050.4(BCKDHB):c.263A>T (p.Asp88Val) rs374253889 0.00001
NM_183050.4(BCKDHB):c.365C>T (p.Thr122Ile) rs398124575 0.00001
NM_183050.4(BCKDHB):c.858G>A (p.Glu286=) rs765019762 0.00001
NM_183050.4(BCKDHB):c.866C>T (p.Ser289Phe) rs762438504 0.00001
NM_183050.4(BCKDHB):c.895T>A (p.Cys299Ser) rs370331553 0.00001
NM_201548.5(CERKL):c.1034G>A (p.Arg345Gln) rs727503856 0.00001
NM_201548.5(CERKL):c.1192C>G (p.Gln398Glu) rs144793035 0.00001
NM_201548.5(CERKL):c.1268G>A (p.Arg423Lys) rs755105366 0.00001
NM_201548.5(CERKL):c.1291C>G (p.Leu431Val) rs34150300 0.00001
NM_201548.5(CERKL):c.1445C>T (p.Pro482Leu) rs1459300740 0.00001
NM_201548.5(CERKL):c.1454A>G (p.Glu485Gly) rs369866192 0.00001
NM_201548.5(CERKL):c.1498G>A (p.Asp500Asn) rs771072583 0.00001
NM_201548.5(CERKL):c.356G>A (p.Gly119Asp) rs1003615909 0.00001
NM_201548.5(CERKL):c.553G>C (p.Val185Leu) rs146698457 0.00001
NM_201548.5(CERKL):c.677+613C>T rs199691281 0.00001
NM_201548.5(CERKL):c.820+10T>C rs777113677 0.00001
NM_201548.5(CERKL):c.848T>C (p.Leu283Pro) rs772798578 0.00001
NM_205861.3(DHDDS):c.274G>A (p.Gly92Arg) rs766371067 0.00001
NM_205861.3(DHDDS):c.324-4T>G rs747118618 0.00001
NM_205861.3(DHDDS):c.339G>C (p.Lys113Asn) rs144046776 0.00001
NM_205861.3(DHDDS):c.366C>T (p.Gly122=) rs774001400 0.00001
NM_205861.3(DHDDS):c.491A>G (p.Asn164Ser) rs1429544868 0.00001
NM_205861.3(DHDDS):c.53A>G (p.Asn18Ser) rs922422245 0.00001
NM_205861.3(DHDDS):c.57C>T (p.Ile19=) rs981419090 0.00001
NM_205861.3(DHDDS):c.706A>T (p.Thr236Ser) rs763763588 0.00001
NM_205861.3(DHDDS):c.987C>T (p.Gly329=) rs1381026387 0.00001
NM_000016.6(ACADM):c.1021G>A (p.Ala341Thr) rs1424545377
NM_000016.6(ACADM):c.1034A>T (p.Asp345Val) rs771978135
NM_000016.6(ACADM):c.1046G>T (p.Arg349Leu) rs760335676
NM_000016.6(ACADM):c.1087G>A (p.Asp363Asn) rs875989866
NM_000016.6(ACADM):c.1159G>C (p.Val387Leu) rs1057518630
NM_000016.6(ACADM):c.1184A>C (p.Lys395Thr) rs776312173
NM_000016.6(ACADM):c.15C>A (p.Phe5Leu) rs1024056446
NM_000016.6(ACADM):c.235AGA[1] (p.Arg80del) rs1553122972
NM_000016.6(ACADM):c.241G>A (p.Ala81Thr) rs1448376709
NM_000016.6(ACADM):c.262A>T (p.Asn88Tyr) rs1647171392
NM_000016.6(ACADM):c.346T>G (p.Cys116Gly) rs875989863
NM_000016.6(ACADM):c.353G>C (p.Gly118Ala) rs1647188699
NM_000016.6(ACADM):c.385G>T (p.Gly129Trp) rs886042076
NM_000016.6(ACADM):c.494C>T (p.Ala165Val) rs1260394550
NM_000016.6(ACADM):c.526G>T (p.Ala176Ser) rs200754053
NM_000016.6(ACADM):c.564G>A (p.Gln188=) rs1647481720
NM_000016.6(ACADM):c.576A>G (p.Ile192Met) rs1647482271
NM_000016.6(ACADM):c.592G>A (p.Ala198Thr) rs1647485086
NM_000016.6(ACADM):c.595A>G (p.Asn199Asp) rs1468901075
NM_000016.6(ACADM):c.622G>T (p.Asp208Tyr) rs983879715
NM_000016.6(ACADM):c.640C>G (p.Pro214Ala) rs1040699870
NM_000016.6(ACADM):c.708+6G>A rs958629659
NM_000016.6(ACADM):c.755T>G (p.Phe252Cys) rs780510026
NM_000016.6(ACADM):c.773C>T (p.Pro258Leu) rs1022879056
NM_000016.6(ACADM):c.866T>C (p.Val289Ala) rs1057520215
NM_000016.6(ACADM):c.907G>A (p.Ala303Thr) rs875989855
NM_000016.6(ACADM):c.946-2dup rs1648822448
NM_000018.4(ACADVL):c.1007T>A (p.Ile336Asn) rs1431769044
NM_000018.4(ACADVL):c.1052C>T (p.Thr351Ile) rs796051911
NM_000018.4(ACADVL):c.1078-5T>G rs1266629718
NM_000018.4(ACADVL):c.1183-7A>G rs750441118
NM_000018.4(ACADVL):c.1268C>T (p.Ser423Leu) rs1451455641
NM_000018.4(ACADVL):c.138+5G>A rs2071124642
NM_000018.4(ACADVL):c.1496G>C (p.Gly499Ala) rs764943140
NM_000018.4(ACADVL):c.1613G>C (p.Arg538Pro) rs201350598
NM_000018.4(ACADVL):c.1616C>A (p.Ala539Asp) rs781613690
NM_000018.4(ACADVL):c.1678+3_1678+6del rs759135941
NM_000018.4(ACADVL):c.1835C>G (p.Ala612Gly) rs374898424
NM_000018.4(ACADVL):c.1922T>C (p.Leu641Ser) rs2071413884
NM_000018.4(ACADVL):c.368A>G (p.Asp123Gly) rs1131691301
NM_000018.4(ACADVL):c.495G>T (p.Glu165Asp) rs370169077
NM_000018.4(ACADVL):c.506T>C (p.Met169Thr) rs1382262076
NM_000018.4(ACADVL):c.678C>A (p.Ala226=) rs372114185
NM_000018.4(ACADVL):c.753-27C>T rs374911841
NM_000018.4(ACADVL):c.956C>T (p.Ser319Leu) rs149467828
NM_000018.4(ACADVL):c.963C>A (p.Asn321Lys) rs568118142
NM_000019.4(ACAT1):c.1200_1207del (p.His400fs) rs1057520091
NM_000019.4(ACAT1):c.1277A>C (p.Lys426Thr) rs2077742350
NM_000019.4(ACAT1):c.291A>T (p.Gly97=) rs746216662
NM_000019.4(ACAT1):c.436G>A (p.Asp146Asn) rs2077523952
NM_000019.4(ACAT1):c.483T>C (p.Tyr161=) rs1591367485
NM_000019.4(ACAT1):c.71A>C (p.Gln24Pro) rs2077152202
NM_000019.4(ACAT1):c.921A>G (p.Thr307=) rs2077610591
NM_000019.4(ACAT1):c.983C>T (p.Ala328Val) rs1057517702
NM_000048.4(ASL):c.1080G>C (p.Met360Ile) rs1786857910
NM_000048.4(ASL):c.402C>A (p.Gly134=) rs1308519514
NM_000048.4(ASL):c.503G>A (p.Arg168His) rs727503811
NM_000048.4(ASL):c.571C>G (p.Arg191Gly) rs143508372
NM_000048.4(ASL):c.675C>G (p.Ile225Met) rs1554327265
NM_000048.4(ASL):c.928C>T (p.Leu310Phe) rs1168345442
NM_000071.3(CBS):c.1007G>C (p.Arg336Pro) rs760417941
NM_000071.3(CBS):c.1009A>C (p.Met337Leu) rs372822486
NM_000071.3(CBS):c.1071C>T (p.Ala357=) rs368206976
NM_000071.3(CBS):c.1114G>A (p.Val372Ile) rs775354680
NM_000071.3(CBS):c.1114G>T (p.Val372Phe) rs775354680
NM_000071.3(CBS):c.1146-6C>T rs1981696579
NM_000071.3(CBS):c.1213AAG[1] (p.Lys406del) rs780555741
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.1358G>A (p.Gly453Glu) rs886039146
NM_000071.3(CBS):c.1436T>C (p.Val479Ala) rs886038933
NM_000071.3(CBS):c.1467+4C>T rs1981503515
NM_000071.3(CBS):c.1580G>A (p.Arg527Gln) rs551198487
NM_000071.3(CBS):c.1656A>C (p.Ter552Cys) rs1365095601
NM_000071.3(CBS):c.170G>A (p.Gly57Asp) rs1295461215
NM_000071.3(CBS):c.179C>T (p.Ala60Val) rs765352771
NM_000071.3(CBS):c.359A>G (p.Asp120Gly) rs1982750491
NM_000071.3(CBS):c.381T>G (p.Ile127Met) rs199824647
NM_000071.3(CBS):c.394C>A (p.Arg132Ser) rs140002610
NM_000071.3(CBS):c.400G>C (p.Gly134Arg) rs147474549
NM_000071.3(CBS):c.430G>C (p.Glu144Gln) rs121964966
NM_000071.3(CBS):c.450C>T (p.Thr150=) rs750030593
NM_000071.3(CBS):c.469G>A (p.Ala157Thr) rs199817801
NM_000071.3(CBS):c.493T>G (p.Cys165Gly) rs1234354755
NM_000071.3(CBS):c.502G>A (p.Val168Met) rs121964970
NM_000071.3(CBS):c.622T>C (p.Trp208Arg) rs1060500683
NM_000071.3(CBS):c.636C>G (p.Asn212Lys) rs2298758
NM_000071.3(CBS):c.710C>T (p.Ala237Val) rs1568931765
NM_000071.3(CBS):c.741G>C (p.Lys247Asn) rs746892057
NM_000071.3(CBS):c.745G>A (p.Asp249Asn) rs767397847
NM_000071.3(CBS):c.750G>A (p.Met250Ile) rs863223431
NM_000071.3(CBS):c.763G>C (p.Val255Leu) rs1982371715
NM_000071.3(CBS):c.825C>T (p.Cys275=) rs764638041
NM_000071.3(CBS):c.829-8C>G rs750081937
NM_000071.3(CBS):c.862G>T (p.Ala288Ser) rs141502207
NM_000071.3(CBS):c.887C>T (p.Thr296Met) rs562530775
NM_000071.3(CBS):c.954G>A (p.Thr318=) rs776122644
NM_000108.5(DLD):c.191G>C (p.Gly64Ala) rs2031883055
NM_000108.5(DLD):c.367A>G (p.Met123Val) rs111352707
NM_000108.5(DLD):c.597A>G (p.Thr199=) rs768248572
NM_000126.4(ETFA):c.218T>C (p.Ile73Thr) rs2039778846
NM_000126.4(ETFA):c.351+9G>A rs2039774067
NM_000126.4(ETFA):c.36G>A (p.Arg12=) rs1299355915
NM_000137.4(FAH):c.*1G>A rs2041369631
NM_000137.4(FAH):c.1196A>C (p.Asp399Ala) rs2041368892
NM_000137.4(FAH):c.192+9T>C rs1386784352
NM_000137.4(FAH):c.452A>G (p.Asn151Ser) rs377283883
NM_000137.4(FAH):c.553+8A>G rs1447400619
NM_000137.4(FAH):c.607-10C>G rs2041245977
NM_000137.4(FAH):c.607G>A (p.Ala203Thr) rs2041246142
NM_000137.4(FAH):c.645G>T (p.Pro215=) rs151221329
NM_000137.4(FAH):c.710G>A (p.Arg237Gln) rs2041253905
NM_000156.6(GAMT):c.106A>G (p.Ile36Val) rs2082632903
NM_000156.6(GAMT):c.124A>G (p.Met42Val) rs536055494
NM_000156.6(GAMT):c.165C>A (p.Ala55=) rs767100879
NM_000156.6(GAMT):c.172TCC[3] (p.Ser59dup) rs768895098
NM_000156.6(GAMT):c.17C>T (p.Ala6Val) rs796052529
NM_000156.6(GAMT):c.262ATC[1] (p.Ile89del) rs750232484
NM_000156.6(GAMT):c.280G>A (p.Gly94Ser) rs774689819
NM_000156.6(GAMT):c.291G>T (p.Gln97His) rs796052524
NM_000156.6(GAMT):c.392-9T>G rs2082618862
NM_000156.6(GAMT):c.462C>G (p.Asn154Lys) rs748256259
NM_000156.6(GAMT):c.463C>G (p.His155Asp) rs1374777721
NM_000156.6(GAMT):c.46T>G (p.Cys16Gly) rs2082633520
NM_000156.6(GAMT):c.509A>G (p.Asn170Ser) rs202199674
NM_000156.6(GAMT):c.521G>T (p.Trp174Leu) rs200444143
NM_000156.6(GAMT):c.570+5G>A rs199678332
NM_000156.6(GAMT):c.570+5G>T rs199678332
NM_000156.6(GAMT):c.650C>A (p.Pro217Gln) rs139890971
NM_000156.6(GAMT):c.702C>T (p.Thr234=) rs1375010161
NM_000159.4(GCDH):c.1124G>A (p.Cys375Tyr) rs1568429153
NM_000159.4(GCDH):c.1287G>A (p.Thr429=) rs141819282
NM_000159.4(GCDH):c.29T>C (p.Leu10Pro) rs1417742838
NM_000159.4(GCDH):c.397G>A (p.Val133Met) rs746388510
NM_000159.4(GCDH):c.680G>A (p.Arg227Gln) rs121434373
NM_000159.4(GCDH):c.782C>T (p.Thr261Ile) rs777494547
NM_000159.4(GCDH):c.957-6A>C rs748270195
NM_000170.3(GLDC):c.106G>C (p.Asp36His) rs573883784
NM_000170.3(GLDC):c.127G>T (p.Asp43Tyr) rs1819723104
NM_000170.3(GLDC):c.1484_1489del rs778109389
NM_000170.3(GLDC):c.1553C>G (p.Pro518Arg) rs761064507
NM_000170.3(GLDC):c.183C>G (p.Asp61Glu) rs375497905
NM_000170.3(GLDC):c.1914G>C (p.Glu638Asp) rs1200000126
NM_000170.3(GLDC):c.2136C>G (p.Asp712Glu) rs762761551
NM_000170.3(GLDC):c.224A>G (p.Gln75Arg) rs1819719916
NM_000170.3(GLDC):c.2310C>A (p.Ile770=) rs765661419
NM_000170.3(GLDC):c.2310C>T (p.Ile770=) rs765661419
NM_000170.3(GLDC):c.2333C>T (p.Pro778Leu) rs754670348
NM_000170.3(GLDC):c.234G>C (p.Met78Ile) rs1282813808
NM_000170.3(GLDC):c.2383T>A (p.Cys795Ser) rs567167527
NM_000170.3(GLDC):c.2537C>T (p.Thr846Ile) rs747336541
NM_000170.3(GLDC):c.2561G>A (p.Gly854Asp) rs1271552143
NM_000170.3(GLDC):c.2593T>A (p.Leu865Met) rs375375700
NM_000170.3(GLDC):c.2597A>G (p.Asp866Gly) rs1817224032
NM_000170.3(GLDC):c.2616G>C (p.Lys872Asn) rs778913771
NM_000170.3(GLDC):c.2839-3C>T rs1252272018
NM_000170.3(GLDC):c.2859C>G (p.Thr953=) rs1817083513
NM_000170.3(GLDC):c.2876A>G (p.His959Arg) rs572523552
NM_000170.3(GLDC):c.2919C>G (p.Leu973=) rs113736090
NM_000170.3(GLDC):c.294C>A (p.Asn98Lys) rs1819702080
NM_000170.3(GLDC):c.609C>T (p.Ala203=) rs201699152
NM_000170.3(GLDC):c.624G>T (p.Gln208His) rs1385183318
NM_000170.3(GLDC):c.635G>A (p.Arg212Lys) rs386833584
NM_000170.3(GLDC):c.639CAA[1] (p.Asn214del) rs1222749984
NM_000170.3(GLDC):c.643A>G (p.Lys215Glu) rs907616957
NM_000170.3(GLDC):c.71G>A (p.Gly24Glu) rs967983950
NM_000170.3(GLDC):c.790T>C (p.Phe264Leu) rs1038444873
NM_000170.3(GLDC):c.815A>G (p.Lys272Arg) rs566939288
NM_000170.3(GLDC):c.861+5G>A rs192663616
NM_000170.3(GLDC):c.861+5G>C rs192663616
NM_000170.3(GLDC):c.913C>A (p.Pro305Thr) rs370964168
NM_000182.5(HADHA):c.1137C>G (p.Val379=) rs1669919221
NM_000182.5(HADHA):c.1162A>T (p.Ile388Leu) rs370054250
NM_000182.5(HADHA):c.1184C>A (p.Thr395Asn) rs778263925
NM_000182.5(HADHA):c.1543G>A (p.Glu515Lys) rs763353852
NM_000182.5(HADHA):c.157C>A (p.Arg53=) rs147103714
NM_000182.5(HADHA):c.16G>C (p.Ala6Pro) rs150565988
NM_000182.5(HADHA):c.1712T>C (p.Leu571Pro) rs1553312058
NM_000182.5(HADHA):c.2215G>T (p.Ala739Ser) rs141164185
NM_000182.5(HADHA):c.431C>T (p.Ser144Phe) rs758107197
NM_000182.5(HADHA):c.80G>T (p.Arg27Leu) rs200145855
NM_000191.3(HMGCL):c.497+3G>A rs763178392
NM_000191.3(HMGCL):c.528T>C (p.Tyr176=) rs112508527
NM_000191.3(HMGCL):c.614C>G (p.Thr205Ser) rs1445870588
NM_000191.3(HMGCL):c.649A>G (p.Met217Val) rs767993106
NM_000191.3(HMGCL):c.751-3T>C rs1356054021
NM_000191.3(HMGCL):c.765C>T (p.Val255=) rs778296169
NM_000191.3(HMGCL):c.800C>A (p.Pro267His) rs750347526
NM_000191.3(HMGCL):c.814G>T (p.Ala272Ser) rs1638363983
NM_000191.3(HMGCL):c.89C>T (p.Pro30Leu) rs1638700415
NM_000274.4(OAT):c.116C>T (p.Thr39Ile) rs754764229
NM_000274.4(OAT):c.199+5G>A rs1564739598
NM_000274.4(OAT):c.413C>T (p.Pro138Leu) rs1951673489
NM_000274.4(OAT):c.43A>T (p.Ser15Cys) rs1453312313
NM_000274.4(OAT):c.521-6T>G rs369018496
NM_000274.4(OAT):c.614A>G (p.Asp205Gly) rs375157197
NM_000274.4(OAT):c.718G>A (p.Val240Ile) rs777488833
NM_000274.4(OAT):c.966A>T (p.Thr322=) rs1951417723
NM_000277.3(PAH):c.105A>G (p.Ile35Met) rs768048739
NM_000277.3(PAH):c.1065+9T>G rs1874730997
NM_000277.3(PAH):c.1066-7C>T rs1242756437
NM_000277.3(PAH):c.1089G>C (p.Lys363Asn) rs63329263
NM_000277.3(PAH):c.1120A>G (p.Ile374Val) rs769076484
NM_000277.3(PAH):c.1262T>G (p.Ile421Ser) rs199475696
NM_000277.3(PAH):c.1334G>T (p.Cys445Phe) rs1874484048
NM_000277.3(PAH):c.353-7_353-5dup rs1452763334
NM_000277.3(PAH):c.456T>C (p.Pro152=) rs377244118
NM_000277.3(PAH):c.510-5T>A rs1875378128
NM_000277.3(PAH):c.538A>G (p.Met180Val) rs1875373366
NM_000277.3(PAH):c.54T>C (p.Phe18=) rs1878411076
NM_000282.4(PCCA):c.-4A>C rs2046021682
NM_000282.4(PCCA):c.120T>C (p.Tyr40=) rs2047399572
NM_000282.4(PCCA):c.1214C>A (p.Pro405His) rs200874114
NM_000282.4(PCCA):c.1285-1417T>C rs1232004179
NM_000282.4(PCCA):c.1383G>A (p.Glu461=) rs2066768313
NM_000282.4(PCCA):c.1651G>A (p.Val551Ile) rs61749895
NM_000282.4(PCCA):c.1760G>C (p.Gly587Ala) rs2079091617
NM_000282.4(PCCA):c.1817G>C (p.Ser606Thr) rs2079095516
NM_000282.4(PCCA):c.183+4_183+7del rs1555342581
NM_000282.4(PCCA):c.1884G>A (p.Gln628=) rs552141237
NM_000282.4(PCCA):c.1898T>G (p.Val633Gly) rs375617644
NM_000282.4(PCCA):c.1919C>G (p.Thr640Ser) rs1594099709
NM_000282.4(PCCA):c.1953G>A (p.Leu651=) rs765771203
NM_000282.4(PCCA):c.2040+9TG[3] rs751014655
NM_000282.4(PCCA):c.2082A>T (p.Lys694Asn) rs2087964084
NM_000282.4(PCCA):c.2113G>T (p.Gly705Cys) rs2087968295
NM_000282.4(PCCA):c.2155G>A (p.Gly719Arg) rs141286340
NM_000282.4(PCCA):c.2162_2163insAG (p.Asp722fs) rs749875940
NM_000282.4(PCCA):c.287T>C (p.Val96Ala) rs2048368792
NM_000282.4(PCCA):c.370A>G (p.Met124Val) rs748802820
NM_000282.4(PCCA):c.415G>A (p.Val139Ile) rs770129876
NM_000282.4(PCCA):c.551C>G (p.Ala184Gly) rs2059068868
NM_000282.4(PCCA):c.649A>G (p.Met217Val) rs372844772
NM_000282.4(PCCA):c.914+8T>A rs543352333
NM_000282.4(PCCA):c.929C>T (p.Ala310Val) rs146927771
NM_000282.4(PCCA):c.999G>A (p.Gly333=) rs2063427075
NM_000317.3(PTS):c.148G>A (p.Gly50Arg) rs922940879
NM_000317.3(PTS):c.438G>C (p.Ter146Tyr) rs1859973316
NM_000360.4(TH):c.*9C>A rs762091461
NM_000360.4(TH):c.1073C>G (p.Ala358Gly) rs1564917127
NM_000360.4(TH):c.1086A>C (p.Glu362Asp) rs1846080018
NM_000360.4(TH):c.1171G>A (p.Gly391Arg) rs1243080287
NM_000360.4(TH):c.120C>T (p.Ser40=) rs766048900
NM_000360.4(TH):c.1215G>A (p.Glu405=) rs1590165298
NM_000360.4(TH):c.1227T>C (p.Ile409=) rs546226132
NM_000360.4(TH):c.1228C>T (p.Arg410Trp) rs575326605
NM_000360.4(TH):c.12C>A (p.Pro4=) rs147131010
NM_000360.4(TH):c.1333A>G (p.Arg445Gly) rs1846054204
NM_000360.4(TH):c.133G>A (p.Ala45Thr) rs1846204853
NM_000360.4(TH):c.1380C>A (p.Asp460Glu) rs748364426
NM_000360.4(TH):c.1442G>A (p.Gly481Asp) rs564949885
NM_000360.4(TH):c.145C>T (p.Arg49Trp) rs1312843586
NM_000360.4(TH):c.202C>T (p.Leu68=) rs372393199
NM_000360.4(TH):c.284C>G (p.Ala95Gly) rs769126179
NM_000360.4(TH):c.284C>T (p.Ala95Val) rs769126179
NM_000360.4(TH):c.293G>C (p.Arg98Pro) rs375214998
NM_000360.4(TH):c.344C>T (p.Thr115Ile) rs756013579
NM_000360.4(TH):c.44G>A (p.Arg15His) rs199648386
NM_000360.4(TH):c.662G>T (p.Arg221Leu) rs150559011
NM_000360.4(TH):c.730G>T (p.Ala244Ser) rs759968927
NM_000360.4(TH):c.799G>C (p.Asp267His) rs1057524283
NM_000360.4(TH):c.841+5G>A rs1846109018
NM_000360.4(TH):c.951G>A (p.Ala317=) rs1590167106
NM_000360.4(TH):c.978-6G>A rs75487597
NM_000481.4(AMT):c.1112G>A (p.Arg371His) rs147006017
NM_000481.4(AMT):c.1138G>A (p.Val380Met) rs1306590343
NM_000481.4(AMT):c.148G>T (p.Val50Leu) rs148917929
NM_000481.4(AMT):c.196A>G (p.Thr66Ala) rs2049115954
NM_000481.4(AMT):c.339+3G>T rs752570901
NM_000481.4(AMT):c.589G>A (p.Asp197Asn) rs200550585
NM_000481.4(AMT):c.643G>C (p.Val215Leu) rs1030915796
NM_000481.4(AMT):c.70C>T (p.Arg24Cys) rs371656220
NM_000481.4(AMT):c.856G>A (p.Gly286Ser) rs778159864
NM_000481.4(AMT):c.877+4A>T rs2049049249
NM_000481.4(AMT):c.959G>T (p.Arg320Leu) rs121964985
NM_000531.6(OTC):c.1020_1028del (p.Leu341_Thr343del) rs2068592611
NM_000531.6(OTC):c.433C>A (p.Gln145Lys) rs753584565
NM_000532.5(PCCB):c.1169C>T (p.Thr390Ile) rs201880353
NM_000532.5(PCCB):c.11_28dup (p.Ala4_Ala9dup) rs777359703
NM_000532.5(PCCB):c.1398+3G>A rs767511434
NM_000532.5(PCCB):c.467T>C (p.Ile156Thr) rs1559998737
NM_000532.5(PCCB):c.749A>G (p.His250Arg) rs1933813724
NM_000709.4(BCKDHA):c.135T>G (p.Phe45Leu) rs1430080785
NM_000709.4(BCKDHA):c.428G>A (p.Gly143Glu) rs2039284027
NM_000709.4(BCKDHA):c.43C>T (p.Arg15Cys) rs371408960
NM_000709.4(BCKDHA):c.782TCT[2] (p.Phe263del) rs398123505
NM_000709.4(BCKDHA):c.939C>T (p.Ala313=) rs2039381646
NM_000709.4(BCKDHA):c.978C>A (p.Ile326=) rs398123514
NM_001142800.2(EYS):c.-497C>T rs184368442
NM_001142800.2(EYS):c.1018C>T (p.Pro340Ser) rs1766677062
NM_001142800.2(EYS):c.1185-6T>G rs565046666
NM_001142800.2(EYS):c.1274G>A (p.Cys425Tyr) rs1064796021
NM_001142800.2(EYS):c.1418G>T (p.Gly473Val) rs540611114
NM_001142800.2(EYS):c.1549C>T (p.Pro517Ser) rs763331925
NM_001142800.2(EYS):c.1613G>T (p.Gly538Val) rs530200433
NM_001142800.2(EYS):c.1675G>A (p.Ala559Thr) rs1769934918
NM_001142800.2(EYS):c.1750G>A (p.Glu584Lys) rs527236072
NM_001142800.2(EYS):c.1786T>C (p.Tyr596His) rs1409350172
NM_001142800.2(EYS):c.1790T>C (p.Ile597Thr) rs1481056736
NM_001142800.2(EYS):c.1902A>G (p.Arg634=) rs1768652347
NM_001142800.2(EYS):c.2000G>A (p.Arg667His) rs549456693
NM_001142800.2(EYS):c.2000G>C (p.Arg667Pro) rs549456693
NM_001142800.2(EYS):c.2465G>A (p.Gly822Asp) rs1768037499
NM_001142800.2(EYS):c.2614G>C (p.Ala872Pro) rs957725168
NM_001142800.2(EYS):c.2828G>A (p.Cys943Tyr) rs986462667
NM_001142800.2(EYS):c.2950A>G (p.Arg984Gly) rs1030671986
NM_001142800.2(EYS):c.3010A>G (p.Asn1004Asp) rs781222768
NM_001142800.2(EYS):c.3072T>A (p.Asn1024Lys) rs2150022753
NM_001142800.2(EYS):c.334G>C (p.Val112Leu) rs112609906
NM_001142800.2(EYS):c.3353T>C (p.Ile1118Thr) rs1412311460
NM_001142800.2(EYS):c.3444A>T (p.Arg1148Ser) rs1377722024
NM_001142800.2(EYS):c.362A>G (p.Glu121Gly) rs1766196909
NM_001142800.2(EYS):c.386G>C (p.Arg129Thr) rs1224551754
NM_001142800.2(EYS):c.3878G>A (p.Gly1293Asp) rs763158109
NM_001142800.2(EYS):c.3905A>G (p.His1302Arg) rs886061676
NM_001142800.2(EYS):c.4393G>T (p.Ala1465Ser) rs747921119
NM_001142800.2(EYS):c.4409A>T (p.Glu1470Val) rs555692190
NM_001142800.2(EYS):c.4530A>T (p.Ser1510=) rs1582929801
NM_001142800.2(EYS):c.4721T>C (p.Val1574Ala) rs1766395456
NM_001142800.2(EYS):c.5087A>C (p.Glu1696Ala) rs1766380689
NM_001142800.2(EYS):c.5333C>T (p.Thr1778Ile) rs566440637
NM_001142800.2(EYS):c.5401G>A (p.Ala1801Thr) rs751705317
NM_001142800.2(EYS):c.5479C>G (p.Leu1827Val) rs746509889
NM_001142800.2(EYS):c.5782A>G (p.Asn1928Asp) rs1432152673
NM_001142800.2(EYS):c.5839C>T (p.His1947Tyr) rs1774743807
NM_001142800.2(EYS):c.6079-24TC[12] rs35395170
NM_001142800.2(EYS):c.6079-24TC[8] rs35395170
NM_001142800.2(EYS):c.6082C>G (p.Pro2028Ala) rs1769479599
NM_001142800.2(EYS):c.6214C>G (p.Pro2072Ala) rs1766405253
NM_001142800.2(EYS):c.6296C>T (p.Ala2099Val) rs2150337999
NM_001142800.2(EYS):c.6575A>T (p.Asn2192Ile) rs750904267
NM_001142800.2(EYS):c.6602T>C (p.Leu2201Pro) rs2149855751
NM_001142800.2(EYS):c.6725G>A (p.Arg2242His) rs1771368413
NM_001142800.2(EYS):c.6772A>G (p.Met2258Val) rs1767966521
NM_001142800.2(EYS):c.683G>T (p.Cys228Phe) rs999213534
NM_001142800.2(EYS):c.6899G>T (p.Gly2300Val) rs531588707
NM_001142800.2(EYS):c.7073_7081dup (p.Phe2358_Glu2360dup) rs1372494388
NM_001142800.2(EYS):c.7117G>C (p.Ala2373Pro) rs372512515
NM_001142800.2(EYS):c.7228G>T (p.Ala2410Ser) rs915505702
NM_001142800.2(EYS):c.7251G>T (p.Arg2417Ser) rs572836860
NM_001142800.2(EYS):c.7423G>A (p.Asp2475Asn) rs140594243
NM_001142800.2(EYS):c.7684C>G (p.Leu2562Val) rs1770414327
NM_001142800.2(EYS):c.8104A>C (p.Asn2702His) rs1768627778
NM_001142800.2(EYS):c.8128G>T (p.Ala2710Ser) rs750011709
NM_001142800.2(EYS):c.8151G>T (p.Lys2717Asn) rs983603381
NM_001142800.2(EYS):c.8203T>C (p.Tyr2735His) rs1768623493
NM_001142800.2(EYS):c.8210C>T (p.Ala2737Val) rs1481779086
NM_001142800.2(EYS):c.8230T>C (p.Ser2744Pro) rs1768622052
NM_001142800.2(EYS):c.8611G>A (p.Val2871Ile) rs948892214
NM_001142800.2(EYS):c.863-4dup rs199517256
NM_001142800.2(EYS):c.8816G>A (p.Cys2939Tyr) rs1582139965
NM_001142800.2(EYS):c.8830G>A (p.Val2944Met) rs1335320588
NM_001142800.2(EYS):c.8846A>T (p.Glu2949Val) rs1768370055
NM_001142800.2(EYS):c.9012_9020del (p.Glu3004_Asn3006del) rs1768361133
NM_001142800.2(EYS):c.9101A>G (p.Tyr3034Cys) rs779289332
NM_001142800.2(EYS):c.919G>A (p.Gly307Arg) rs1766684069
NM_001142800.2(EYS):c.9202G>A (p.Glu3068Lys) rs1241787129
NM_001201543.2(FAM161A):c.1097G>T (p.Gly366Val) rs1386308138
NM_001201543.2(FAM161A):c.1238A>C (p.Glu413Ala) rs748095219
NM_001201543.2(FAM161A):c.1401T>G (p.Ile467Met) rs1290409340
NM_001201543.2(FAM161A):c.1484G>A (p.Arg495His) rs201998260
NM_001201543.2(FAM161A):c.148GAG[2] (p.Glu52del) rs528451151
NM_001201543.2(FAM161A):c.149A>G (p.Glu50Gly) rs1673585446
NM_001201543.2(FAM161A):c.1579G>T (p.Val527Leu) rs372121322
NM_001201543.2(FAM161A):c.1688C>G (p.Ala563Gly) rs1672859918
NM_001201543.2(FAM161A):c.1815A>T (p.Leu605Phe) rs372597586
NM_001201543.2(FAM161A):c.1971T>G (p.Asn657Lys) rs867264184
NM_001201543.2(FAM161A):c.2080G>C (p.Asp694His) rs1672373216
NM_001201543.2(FAM161A):c.2121AGA[1] (p.Glu709del) rs558080743
NM_001201543.2(FAM161A):c.302A>G (p.Glu101Gly) rs756780634
NM_001201543.2(FAM161A):c.435A>C (p.Glu145Asp) rs202022070
NM_001201543.2(FAM161A):c.516C>G (p.Ser172=) rs767300885
NM_001201543.2(FAM161A):c.595A>G (p.Ile199Val) rs1672974919
NM_001201543.2(FAM161A):c.721C>A (p.Pro241Thr) rs531709417
NM_001201543.2(FAM161A):c.82G>A (p.Ala28Thr) rs550422472
NM_001201543.2(FAM161A):c.934G>C (p.Glu312Gln) rs1166920376
NM_001243279.3(ACSF3):c.-10T>G rs781454948
NM_001243279.3(ACSF3):c.-8T>A rs1210097201
NM_001243279.3(ACSF3):c.1043G>A (p.Gly348Asp) rs371034681
NM_001243279.3(ACSF3):c.1056G>C (p.Leu352=) rs1904683576
NM_001243279.3(ACSF3):c.1060C>T (p.Arg354Trp) rs761084443
NM_001243279.3(ACSF3):c.1121T>C (p.Leu374Pro) rs1904713918
NM_001243279.3(ACSF3):c.1127-9C>T rs536593488
NM_001243279.3(ACSF3):c.1292C>A (p.Ser431Tyr) rs1057520194
NM_001243279.3(ACSF3):c.1301G>C (p.Arg434Pro) rs137995833
NM_001243279.3(ACSF3):c.135G>A (p.Pro45=) rs775551806
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln) rs144681140
NM_001243279.3(ACSF3):c.1571A>G (p.Glu524Gly) rs755493108
NM_001243279.3(ACSF3):c.1613+11_1613+12insGGGG rs1912893103
NM_001243279.3(ACSF3):c.1613+7C>G rs1179755069
NM_001243279.3(ACSF3):c.1613+7_1613+8del rs1912892212
NM_001243279.3(ACSF3):c.1613+8T>A rs1358602745
NM_001243279.3(ACSF3):c.1673G>C (p.Arg558Pro) rs140328142
NM_001243279.3(ACSF3):c.251G>A (p.Arg84Lys) rs373476048
NM_001243279.3(ACSF3):c.280C>T (p.Arg94Trp) rs530503915
NM_001243279.3(ACSF3):c.283G>C (p.Glu95Gln) rs751929678
NM_001243279.3(ACSF3):c.291G>C (p.Arg97Ser) rs1299639090
NM_001243279.3(ACSF3):c.541G>A (p.Glu181Lys) rs1567685421
NM_001243279.3(ACSF3):c.557C>T (p.Pro186Leu) rs376098216
NM_001243279.3(ACSF3):c.618G>A (p.Thr206=) rs753012038
NM_001243279.3(ACSF3):c.667-9C>T rs369865917
NM_001243279.3(ACSF3):c.682C>G (p.His228Asp) rs1597898108
NM_001243279.3(ACSF3):c.691G>A (p.Ala231Thr) rs765454020
NM_001243279.3(ACSF3):c.782G>C (p.Gly261Ala) rs1277612080
NM_001243279.3(ACSF3):c.825T>C (p.Val275=) rs751299343
NM_001352514.2(HLCS):c.1414G>A (p.Gly472Arg) rs748444836
NM_001352514.2(HLCS):c.1685C>A (p.Ser562Tyr) rs770873445
NM_001352514.2(HLCS):c.1781C>T (p.Ser594Leu) rs973578825
NM_001352514.2(HLCS):c.2529G>A (p.Gln843=) rs767700692
NM_001352514.2(HLCS):c.495G>A (p.Ser165=) rs1254077652
NM_001352514.2(HLCS):c.581C>T (p.Pro194Leu) rs565756796
NM_001352514.2(HLCS):c.737A>G (p.Tyr246Cys) rs765150200
NM_001352514.2(HLCS):c.767G>T (p.Cys256Phe) rs2066926744
NM_001370658.1(BTD):c.-45A>T rs540641302
NM_001370658.1(BTD):c.1076A>G (p.His359Arg) rs763540316
NM_001370658.1(BTD):c.1177G>A (p.Gly393Ser) rs374141881
NM_001370658.1(BTD):c.1496A>G (p.Tyr499Cys) rs199859507
NM_001370658.1(BTD):c.249+5G>T rs2065329555
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu) rs750363004
NM_001370658.1(BTD):c.817G>C (p.Gly273Arg) rs762757117
NM_001875.5(CPS1):c.1109C>G (p.Pro370Arg) rs149107897
NM_001875.5(CPS1):c.1299G>C (p.Leu433=) rs1698454990
NM_001875.5(CPS1):c.1307G>A (p.Gly436Asp) rs1553511785
NM_001875.5(CPS1):c.1520G>A (p.Gly507Asp) rs1255335680
NM_001875.5(CPS1):c.15G>C (p.Leu5Phe) rs1696924953
NM_001875.5(CPS1):c.1648T>C (p.Phe550Leu) rs1016767752
NM_001875.5(CPS1):c.1707+3A>G rs754232832
NM_001875.5(CPS1):c.1721T>G (p.Leu574Arg) rs1698750285
NM_001875.5(CPS1):c.1727C>A (p.Ala576Glu) rs1698750847
NM_001875.5(CPS1):c.1730C>T (p.Ala577Val) rs1559099882
NM_001875.5(CPS1):c.1754T>C (p.Met585Thr) rs1698751783
NM_001875.5(CPS1):c.1776G>C (p.Leu592=) rs995238182
NM_001875.5(CPS1):c.1905A>T (p.Glu635Asp) rs1698862176
NM_001875.5(CPS1):c.1949T>C (p.Met650Thr) rs1698865403
NM_001875.5(CPS1):c.2011A>G (p.Thr671Ala) rs1698926726
NM_001875.5(CPS1):c.2048C>G (p.Thr683Ser) rs753106342
NM_001875.5(CPS1):c.2143G>T (p.Val715Leu) rs551261693
NM_001875.5(CPS1):c.2153G>A (p.Arg718Lys) rs1559102901
NM_001875.5(CPS1):c.2407C>T (p.Arg803Cys) rs201716417
NM_001875.5(CPS1):c.2475C>T (p.Pro825=) rs751784059
NM_001875.5(CPS1):c.2568+10T>C rs1304867658
NM_001875.5(CPS1):c.2959+8_2959+14del rs765645129
NM_001875.5(CPS1):c.2993C>T (p.Ser998Phe) rs1404696893
NM_001875.5(CPS1):c.3736G>A (p.Val1246Ile) rs753784617
NM_001875.5(CPS1):c.593A>C (p.Gln198Pro) rs1376851408
NM_001875.5(CPS1):c.74C>T (p.Ala25Val) rs149570645
NM_001875.5(CPS1):c.773G>C (p.Gly258Ala) rs778299777
NM_001876.4(CPT1A):c.-6C>A rs561418145
NM_001876.4(CPT1A):c.1077G>A (p.Met359Ile) rs1432015707
NM_001876.4(CPT1A):c.1405C>T (p.Leu469Phe) rs1315026195
NM_001876.4(CPT1A):c.1575+517_1575+521dup rs1169875761
NM_001876.4(CPT1A):c.1597T>C (p.Ser533Pro) rs1855050882
NM_001876.4(CPT1A):c.160G>T (p.Val54Leu) rs147389938
NM_001876.4(CPT1A):c.1653C>T (p.Phe551=) rs1314725177
NM_001876.4(CPT1A):c.1694G>T (p.Ser565Ile) rs200826577
NM_001876.4(CPT1A):c.1704C>T (p.Ala568=) rs1855045353
NM_001876.4(CPT1A):c.1793G>A (p.Arg598Gln) rs878856345
NM_001876.4(CPT1A):c.1901A>G (p.Lys634Arg) rs1854622463
NM_001876.4(CPT1A):c.1907C>T (p.Ala636Val) rs775438656
NM_001876.4(CPT1A):c.2013C>A (p.Ser671=) rs755323437
NM_001876.4(CPT1A):c.2142+6T>C rs777779540
NM_001876.4(CPT1A):c.2235+9G>A rs1946761066
NM_001876.4(CPT1A):c.433C>T (p.Arg145Cys) rs763241992
NM_001876.4(CPT1A):c.535G>A (p.Val179Ile) rs542856213
NM_001876.4(CPT1A):c.620A>G (p.Gln207Arg) rs1855839019
NM_001876.4(CPT1A):c.647G>A (p.Arg216Lys) rs955789237
NM_002225.5(IVD):c.1136T>C (p.Phe379Ser) rs1469021843
NM_002225.5(IVD):c.137A>G (p.Gln46Arg) rs1890355492
NM_002225.5(IVD):c.148C>G (p.Arg50Gly) rs34695403
NM_002225.5(IVD):c.17G>A (p.Arg6Gln) rs748160492
NM_002225.5(IVD):c.233G>C (p.Arg78Pro) rs771929559
NM_002225.5(IVD):c.438A>G (p.Lys146=) rs1007239169
NM_002225.5(IVD):c.467G>C (p.Gly156Ala) rs1221254988
NM_002225.5(IVD):c.60G>T (p.Pro20=) rs1482549847
NM_002225.5(IVD):c.823G>A (p.Val275Met) rs757832700
NM_002225.5(IVD):c.848A>G (p.Glu283Gly) rs1314850102
NM_002225.5(IVD):c.865G>T (p.Gly289Trp) rs568885234
NM_002225.5(IVD):c.870G>T (p.Gly290=) rs1285915480
NM_002225.5(IVD):c.995G>T (p.Arg332Leu) rs745464766
NM_002454.3(MTRR):c.1364G>C (p.Cys455Ser) rs764469824
NM_002454.3(MTRR):c.1490T>C (p.Val497Ala) rs1737849237
NM_002454.3(MTRR):c.1717G>A (p.Ala573Thr) rs1738616151
NM_002454.3(MTRR):c.1998A>G (p.Gln666=) rs767507060
NM_002454.3(MTRR):c.220A>G (p.Lys74Glu) rs1748351304
NM_002454.3(MTRR):c.99A>C (p.Ala33=) rs1747850617
NM_003060.4(SLC22A5):c.1036A>G (p.Met346Val) rs745453534
NM_003060.4(SLC22A5):c.1043T>A (p.Ile348Lys) rs150544263
NM_003060.4(SLC22A5):c.1046T>C (p.Met349Thr) rs1280789093
NM_003060.4(SLC22A5):c.1060A>G (p.Ile354Val) rs1166753949
NM_003060.4(SLC22A5):c.1085C>T (p.Ser362Leu) rs886042092
NM_003060.4(SLC22A5):c.1451G>A (p.Gly484Asp) rs28383480
NM_003060.4(SLC22A5):c.1596C>A (p.His532Gln) rs1752802142
NM_003060.4(SLC22A5):c.1660A>G (p.Ser554Gly) rs1561577867
NM_003060.4(SLC22A5):c.215G>C (p.Arg72Pro) rs1177265994
NM_003060.4(SLC22A5):c.232C>T (p.Pro78Ser) rs1485828747
NM_003060.4(SLC22A5):c.233C>T (p.Pro78Leu) rs1751846688
NM_003060.4(SLC22A5):c.265A>G (p.Ile89Val) rs765849408
NM_003060.4(SLC22A5):c.325G>C (p.Glu109Gln) rs1254200528
NM_003060.4(SLC22A5):c.327G>C (p.Glu109Asp) rs760680664
NM_003060.4(SLC22A5):c.40T>A (p.Trp14Arg) rs756863825
NM_003060.4(SLC22A5):c.451G>T (p.Val151Leu) rs386134193
NM_003060.4(SLC22A5):c.470C>A (p.Ser157Tyr) rs759925126
NM_003060.4(SLC22A5):c.470C>T (p.Ser157Phe) rs759925126
NM_003060.4(SLC22A5):c.4C>G (p.Arg2Gly) rs762330138
NM_003060.4(SLC22A5):c.518T>C (p.Leu173Pro) rs1752441594
NM_003060.4(SLC22A5):c.692C>G (p.Ser231Cys) rs386134206
NM_003060.4(SLC22A5):c.861G>C (p.Gln287His) rs1182361371
NM_003060.4(SLC22A5):c.893G>A (p.Arg298His) rs747835354
NM_003060.4(SLC22A5):c.893G>T (p.Arg298Leu) rs747835354
NM_003060.4(SLC22A5):c.964A>G (p.Ser322Gly) rs1561574065
NM_003060.4(SLC22A5):c.976C>G (p.Gln326Glu) rs1047810495
NM_003982.4(SLC7A7):c.1004T>C (p.Phe335Ser) rs11568424
NM_003982.4(SLC7A7):c.1056T>C (p.His352=) rs1490713694
NM_003982.4(SLC7A7):c.1211G>A (p.Arg404His) rs201305817
NM_003982.4(SLC7A7):c.1266T>G (p.Ile422Met) rs1594942768
NM_003982.4(SLC7A7):c.1333A>G (p.Ile445Val) rs764231324
NM_003982.4(SLC7A7):c.1376TCA[2] (p.Ile461del) rs759301639
NM_003982.4(SLC7A7):c.1430-4G>A rs2038527445
NM_003982.4(SLC7A7):c.1436C>G (p.Ala479Gly) rs757095799
NM_003982.4(SLC7A7):c.25G>A (p.Val9Met) rs1594986371
NM_003982.4(SLC7A7):c.272C>A (p.Ala91Glu) rs11568438
NM_003982.4(SLC7A7):c.446C>T (p.Pro149Leu) rs796145994
NM_003982.4(SLC7A7):c.499+9G>C rs893853391
NM_003982.4(SLC7A7):c.755T>A (p.Ile252Asn) rs760849909
NM_003982.4(SLC7A7):c.760A>C (p.Asn254His) rs2038663013
NM_004453.4(ETFDH):c.1116+6T>C rs1561247878
NM_004453.4(ETFDH):c.1116+7C>T rs748640706
NM_004453.4(ETFDH):c.1278G>A (p.Lys426=) rs1284823413
NM_004453.4(ETFDH):c.1449G>A (p.Pro483=) rs143873407
NM_004453.4(ETFDH):c.1453A>C (p.Thr485Pro) rs1774616683
NM_004453.4(ETFDH):c.1469-8T>C rs1774625470
NM_004453.4(ETFDH):c.1555T>C (p.Leu519=) rs533097197
NM_004453.4(ETFDH):c.1726G>A (p.Gly576Arg) rs760578708
NM_004453.4(ETFDH):c.1852T>G (p.Ter618Glu) rs765742496
NM_004453.4(ETFDH):c.25T>A (p.Ser9Thr) rs1175266968
NM_004453.4(ETFDH):c.606+10GTTTT[2] rs745580994
NM_004453.4(ETFDH):c.61A>T (p.Ile21Phe) rs780991832
NM_005957.5(MTHFR):c.1228_1242del (p.Ser410_Lys414del) rs1297161027
NM_005957.5(MTHFR):c.1320G>T (p.Ser440=) rs367585605
NM_005957.5(MTHFR):c.1753-22_1753-3del rs752911686
NM_005957.5(MTHFR):c.469C>A (p.Arg157=) rs776195746
NM_006623.4(PHGDH):c.40A>G (p.Ser14Gly) rs1448633854
NM_006623.4(PHGDH):c.505A>T (p.Met169Leu) rs776977023
NM_006623.4(PHGDH):c.764C>T (p.Ala255Val) rs1571010631
NM_006623.4(PHGDH):c.77G>A (p.Gly26Glu) rs1650720374
NM_014049.5(ACAD9):c.1798_1801del (p.Lys600fs) rs917547961
NM_014049.5(ACAD9):c.217C>A (p.Pro73Thr) rs557401373
NM_014049.5(ACAD9):c.388G>A (p.Glu130Lys) rs1935540558
NM_014049.5(ACAD9):c.665T>C (p.Ile222Thr) rs863223874
NM_014049.5(ACAD9):c.755G>A (p.Gly252Asp) rs1935665522
NM_014251.3(SLC25A13):c.135G>C (p.Leu45Phe) rs1798490375
NM_014251.3(SLC25A13):c.1420G>A (p.Val474Met) rs554809009
NM_014251.3(SLC25A13):c.1495A>G (p.Ile499Val) rs1388764303
NM_014251.3(SLC25A13):c.1653_1655del (p.Ala552del) rs781077173
NM_014251.3(SLC25A13):c.415G>A (p.Gly139Arg) rs1269555090
NM_014252.4(SLC25A15):c.145G>A (p.Asp49Asn) rs539373322
NM_014252.4(SLC25A15):c.249G>A (p.Met83Ile) rs765128094
NM_014252.4(SLC25A15):c.364C>G (p.Leu122Val) rs1438281063
NM_014252.4(SLC25A15):c.375C>T (p.Cys125=) rs1882122356
NM_014252.4(SLC25A15):c.818T>A (p.Met273Lys) rs202247808
NM_015506.3(MMACHC):c.145G>C (p.Ala49Pro) rs775502093
NM_015506.3(MMACHC):c.182G>A (p.Arg61Gln) rs201777449
NM_015506.3(MMACHC):c.311A>T (p.Asp104Val) rs1553162829
NM_015506.3(MMACHC):c.319G>A (p.Val107Met) rs758730415
NM_015506.3(MMACHC):c.395G>A (p.Arg132Gln) rs369335868
NM_015506.3(MMACHC):c.506T>C (p.Ile169Thr) rs1643678565
NM_015506.3(MMACHC):c.643T>C (p.Tyr215His) rs755843695
NM_015506.3(MMACHC):c.650A>G (p.Glu217Gly) rs199641732
NM_015702.3(MMADHC):c.311C>T (p.Ala104Val) rs533388008
NM_015702.3(MMADHC):c.609+6T>C rs1682704400
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.869T>G (p.Met290Arg) rs1401528755
NM_020166.5(MCCC1):c.1304C>T (p.Ala435Val) rs1232970567
NM_020166.5(MCCC1):c.1339G>T (p.Ala447Ser) rs546480708
NM_020166.5(MCCC1):c.1427A>T (p.His476Leu) rs1560219876
NM_020166.5(MCCC1):c.1475A>G (p.His492Arg) rs1713701795
NM_020166.5(MCCC1):c.1554G>A (p.Lys518=) rs563586657
NM_020166.5(MCCC1):c.1570G>A (p.Asp524Asn) rs200031275
NM_020166.5(MCCC1):c.1658T>A (p.Met553Lys) rs774055789
NM_020166.5(MCCC1):c.2056A>G (p.Ile686Val) rs751755306
NM_020166.5(MCCC1):c.245C>G (p.Ala82Gly) rs1577363370
NM_020166.5(MCCC1):c.272T>C (p.Met91Thr) rs1333663197
NM_020166.5(MCCC1):c.300C>G (p.Pro100=) rs747409426
NM_020166.5(MCCC1):c.328A>G (p.Met110Val) rs1717919066
NM_020166.5(MCCC1):c.362C>T (p.Ala121Val) rs1367329678
NM_020166.5(MCCC1):c.530T>C (p.Val177Ala) rs1716671130
NM_020166.5(MCCC1):c.608T>C (p.Met203Thr) rs1406515651
NM_020166.5(MCCC1):c.730A>G (p.Met244Val) rs369227006
NM_020166.5(MCCC1):c.829A>G (p.Ser277Gly) rs1715498129
NM_020166.5(MCCC1):c.918A>C (p.Ala306=) rs1715030459
NM_022132.5(MCCC2):c.1235A>C (p.Glu412Ala) rs371587906
NM_022132.5(MCCC2):c.1273A>G (p.Met425Val) rs766591766
NM_022132.5(MCCC2):c.1438A>G (p.Asn480Asp) rs201060452
NM_022132.5(MCCC2):c.1559A>C (p.Tyr520Ser) rs150327768
NM_022132.5(MCCC2):c.1574+5G>T rs781483923
NM_022132.5(MCCC2):c.1635dup (p.Ser546Ter) rs768272570
NM_022132.5(MCCC2):c.1639G>A (p.Ala547Thr) rs758806872
NM_022132.5(MCCC2):c.196+3A>G rs751519858
NM_022132.5(MCCC2):c.286C>G (p.Pro96Ala) rs770208071
NM_022132.5(MCCC2):c.438C>T (p.Tyr146=) rs1745482068
NM_022132.5(MCCC2):c.914A>G (p.Glu305Gly) rs757389984
NM_025136.4(OPA3):c.410A>C (p.Gln137Pro) rs372161100
NM_032316.3(NICN1):c.*634G>C rs1416250958
NM_052845.4(MMAB):c.19GGGAGCCGTCTTGGCCTG[1] (p.7GSRLGL[1]) rs770077320
NM_052845.4(MMAB):c.206G>C (p.Ser69Thr) rs147297426
NM_052845.4(MMAB):c.222A>T (p.Glu74Asp) rs1389815526
NM_052845.4(MMAB):c.378G>A (p.Ser126=) rs749452007
NM_052845.4(MMAB):c.406C>A (p.Arg136=) rs763783083
NM_052845.4(MMAB):c.541G>A (p.Ala181Thr) rs1439180009
NM_052845.4(MMAB):c.563_577del (p.Val188_Ala192del) rs1555274496
NM_052845.4(MMAB):c.576C>T (p.Ala192=) rs757562796
NM_052845.4(MMAB):c.57C>T (p.Arg19=) rs10774774
NM_054012.4(ASS1):c.160C>G (p.Leu54Val) rs1564902078
NM_054012.4(ASS1):c.294C>A (p.Ile98=) rs183370361
NM_054012.4(ASS1):c.314T>G (p.Ile105Ser) rs1845505181
NM_054012.4(ASS1):c.605C>A (p.Ala202Glu) rs376371866
NM_054012.4(ASS1):c.623C>G (p.Thr208Arg) rs776441071
NM_054012.4(ASS1):c.63C>A (p.Leu21=) rs774476997
NM_054012.4(ASS1):c.827T>C (p.Met276Thr) rs1365759588
NM_054012.4(ASS1):c.955G>A (p.Glu319Lys) rs1588503732
NM_054012.4(ASS1):c.991T>C (p.Cys331Arg) rs1055308437
NM_153006.3(NAGS):c.1057G>T (p.Ala353Ser) rs1320094253
NM_153006.3(NAGS):c.190G>A (p.Ala64Thr) rs531005276
NM_153006.3(NAGS):c.25G>A (p.Val9Ile) rs2049059364
NM_153006.3(NAGS):c.34G>C (p.Ala12Pro) rs759453873
NM_153006.3(NAGS):c.719C>T (p.Ser240Leu) rs781031762
NM_153006.3(NAGS):c.8C>G (p.Thr3Arg) rs958791517
NM_172250.3(MMAA):c.1044A>C (p.Leu348=) rs754630744
NM_172250.3(MMAA):c.1142C>T (p.Thr381Ile) rs1057520160
NM_172250.3(MMAA):c.208A>C (p.Thr70Pro) rs1328208245
NM_172250.3(MMAA):c.269A>T (p.Tyr90Phe) rs148404005
NM_172250.3(MMAA):c.373A>G (p.Lys125Glu) rs1727722684
NM_172250.3(MMAA):c.562+4A>C rs1336573288
NM_172250.3(MMAA):c.65G>T (p.Arg22Leu) rs375682603
NM_172250.3(MMAA):c.800C>T (p.Ala267Val) rs138854691
NM_172250.3(MMAA):c.928C>G (p.Leu310Val) rs1728166357
NM_183050.4(BCKDHB):c.1039-10C>G rs760262704
NM_183050.4(BCKDHB):c.1042G>A (p.Glu348Lys) rs989873156
NM_183050.4(BCKDHB):c.10G>A (p.Val4Ile) rs774255890
NM_183050.4(BCKDHB):c.274+5C>T rs1770414545
NM_183050.4(BCKDHB):c.315A>G (p.Arg105=) rs1770499965
NM_183050.4(BCKDHB):c.33A>T (p.Leu11=) rs755140913
NM_183050.4(BCKDHB):c.36C>G (p.Leu12=) rs1464497822
NM_183050.4(BCKDHB):c.77T>C (p.Leu26Pro) rs1769081318
NM_183050.4(BCKDHB):c.951+4T>C rs778135997
NM_201548.5(CERKL):c.1043T>C (p.Phe348Ser) rs1687844821
NM_201548.5(CERKL):c.1064C>A (p.Ala355Glu) rs144917662
NM_201548.5(CERKL):c.1166A>G (p.Asn389Ser) rs1687791244
NM_201548.5(CERKL):c.1174T>C (p.Trp392Arg) rs773416880
NM_201548.5(CERKL):c.129C>T (p.Ala43=) rs746107676
NM_201548.5(CERKL):c.132G>C (p.Glu44Asp) rs727503857
NM_201548.5(CERKL):c.1368C>T (p.Phe456=) rs1687372607
NM_201548.5(CERKL):c.1449GGA[5] (p.Glu486dup) rs750109553
NM_201548.5(CERKL):c.184G>T (p.Val62Leu) rs1574077394
NM_201548.5(CERKL):c.238+6T>C rs749540242
NM_201548.5(CERKL):c.364C>G (p.Leu122Val) rs754571046
NM_201548.5(CERKL):c.41A>G (p.Glu14Gly) rs372089851
NM_201548.5(CERKL):c.44_55del (p.Gly15_Glu18del) rs780332524
NM_201548.5(CERKL):c.548C>T (p.Thr183Ile) rs762281053
NM_201548.5(CERKL):c.57A>C (p.Glu19Asp) rs1688202555
NM_201548.5(CERKL):c.677+590G>C rs1688623229
NM_201548.5(CERKL):c.824C>A (p.Ser275Tyr) rs765183381
NM_201548.5(CERKL):c.901G>A (p.Val301Ile) rs1453612133
NM_205861.3(DHDDS):c.299A>G (p.Lys100Arg) rs755746499
NM_205861.3(DHDDS):c.766-4del rs2075521285
NM_205861.3(DHDDS):c.848G>A (p.Arg283Gln) rs761750566
NM_205861.3(DHDDS):c.85A>G (p.Ile29Val) rs2075180906
NM_205861.3(DHDDS):c.893G>C (p.Arg298Pro) rs778103040
NM_205861.3(DHDDS):c.922G>A (p.Glu308Lys) rs2075524191
NM_205861.3(DHDDS):c.962G>A (p.Arg321Gln) rs562974074
NM_205861.3(DHDDS):c.980G>A (p.Arg327His) rs780269059

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