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
|
|