ClinVar Miner

List of variants studied for inborn disorder of amino acid and other organic acid metabolism by Genome-Nilou Lab

Included ClinVar conditions (322):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1427
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HGVS dbSNP gnomAD frequency
NM_005629.4(SLC6A8):c.-5A>G rs384573 1.00000
NM_005050.4(ABCD4):c.1753-46A>G rs929449 0.99998
NM_020686.6(ABAT):c.668-90T>C rs1273407 0.99996
NM_001875.5(CPS1):c.3337-79C>T rs4673540 0.99993
NM_017570.5(OPLAH):c.3027C>T (p.Ala1009=) rs11136253 0.99656
NM_000387.6(SLC25A20):c.536-18T>C rs6414612 0.99352
NM_018706.7(DHTKD1):c.1938T>C (p.Phe646=) rs1615510 0.99092
NM_003937.3(KYNU):c.955+26C>T rs6430000 0.98885
NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly) rs1169305 0.98610
NM_006907.4(PYCR1):c.903A>G (p.Ser301=) rs61747618 0.98394
NM_000925.4(PDHB):c.435A>G (p.Arg145=) rs4264746 0.98352
NM_032383.5(HPS3):c.2887+81G>A rs2681096 0.98243
NM_003748.4(ALDH4A1):c.249+22A>G rs941495 0.96827
NM_003748.4(ALDH4A1):c.678+75T>C rs6426611 0.96773
NM_018706.7(DHTKD1):c.58T>C (p.Phe20Leu) rs1279138 0.96677
NM_018706.7(DHTKD1):c.2320-25A>G rs2399771 0.95721
NM_000071.3(CBS):c.1552+154T>C rs234701 0.95648
NM_018706.7(DHTKD1):c.1911A>C (p.Pro637=) rs1701472 0.95314
NM_016180.5(SLC45A2):c.987A>G (p.Thr329=) rs2287949 0.95123
NM_001876.4(CPT1A):c.556-16C>T rs3019603 0.94412
NM_001875.5(CPS1):c.4101+62A>G rs10932347 0.94113
NM_153006.3(NAGS):c.1451+9T>C rs228773 0.93334
NM_016335.6(PRODH):c.*19T>C rs383964 0.93277
NM_001382347.1(MYO5A):c.1543-13T>C rs1724623 0.92882
NM_000191.3(HMGCL):c.252+34T>C rs2076344 0.92735
NM_000191.3(HMGCL):c.654A>G (p.Leu218=) rs719400 0.92712
NM_001876.4(CPT1A):c.1251T>C (p.Phe417=) rs2228502 0.92020
NM_001876.4(CPT1A):c.1353-47G>T rs3019576 0.92001
NM_153006.3(NAGS):c.916-57T>C rs228770 0.91995
NM_003664.5(AP3B1):c.1754T>A (p.Val585Glu) rs6453373 0.91917
NM_054012.4(ASS1):c.597+81A>G rs641510 0.91777
NM_000274.4(OAT):c.1160-59C>T rs2459217 0.91650
NM_003748.4(ALDH4A1):c.1338+39A>G rs7550822 0.91650
NM_000360.4(TH):c.695+99G>A rs7925924 0.91244
NM_000360.4(TH):c.696-126C>G rs7942881 0.91226
NM_001382347.1(MYO5A):c.1086A>C (p.Glu362Asp) rs1724577 0.91068
NM_000360.4(TH):c.1105-78A>G rs6578990 0.90803
NM_001715.3(BLK):c.176-104G>A rs6994605 0.90656
NM_004817.4(TJP2):c.239+19T>C rs2498417 0.90366
NM_005957.5(MTHFR):c.1305C>T (p.Phe435=) rs4846051 0.90165
NM_005957.5(MTHFR):c.1752+146T>C rs7518348 0.90139
NM_001358263.1(HK1):c.75+5174A>G rs906220 0.89921
NM_054012.4(ASS1):c.838+38A>G rs1215940 0.89625
NM_020166.5(MCCC1):c.396C>T (p.Leu132=) rs7622479 0.89165
NM_002150.3(HPD):c.97A>G (p.Thr33Ala) rs1154510 0.88222
NM_020686.6(ABAT):c.667+99C>T rs8049072 0.87870
NM_001382347.1(MYO5A):c.2012+27A>G rs4774621 0.87830
NM_018706.7(DHTKD1):c.2079C>T (p.Ile693=) rs1722462 0.87799
NM_001382347.1(MYO5A):c.2526C>T (p.Ile842=) rs2414145 0.87556
NM_001918.5(DBT):c.1150A>G (p.Ser384Gly) rs12021720 0.87100
NM_001354735.1(PFKM):c.226C>A (p.Gln76Lys) rs4760682 0.86945
NM_020686.6(ABAT):c.667+120del rs33948976 0.86768
NM_022081.6(HPS4):c.1816C>T (p.His606Tyr) rs1894706 0.86290
NM_020686.6(ABAT):c.448-15T>A rs2302608 0.86261
NM_022081.6(HPS4):c.1875G>T (p.Gln625His) rs1894704 0.86250
NM_016011.5(MECR):c.597A>G (p.Ala199=) rs1062924 0.85930
NM_000277.3(PAH):c.1155C>G (p.Leu385=) rs772897 0.84953
NM_022081.6(HPS4):c.706+39G>T rs739289 0.83516
NM_022081.6(HPS4):c.707-28T>C rs3213583 0.83408
NM_016011.5(MECR):c.286T>C (p.Phe96Leu) rs1128400 0.83145
NM_000182.5(HADHA):c.1621-26G>T rs1865324 0.82473
NM_000187.4(HGD):c.342+25C>T rs2551607 0.82473
NM_000182.5(HADHA):c.1393-62A>C rs13387855 0.82463
NM_003748.4(ALDH4A1):c.941-67T>C rs6426814 0.82332
NM_000274.4(OAT):c.648+14A>G rs9422807 0.81973
NM_022081.6(HPS4):c.686A>G (p.Glu229Gly) rs713998 0.81679
NM_022081.6(HPS4):c.1654G>A (p.Val552Met) rs5752330 0.81665
NM_001715.3(BLK):c.843T>C (p.Phe281=) rs2306234 0.81190
NM_016011.5(MECR):c.176+19G>A rs2640466 0.80531
NM_000188.3(HK1):c.1443G>A (p.Lys481=) rs748235 0.80224
NM_058179.4(PSAT1):c.-12G>C rs2277148 0.80020
NM_006907.4(PYCR1):c.138+37C>T rs34419046 0.79384
NM_004483.5(GCSH):c.62C>T (p.Ser21Leu) rs8052579 0.79247
NM_015702.3(MMADHC):c.453G>A (p.Gln151=) rs11545261 0.78682
NM_001701.4(BAAT):c.*46G>A rs2229594 0.78680
NM_000289.6(PFKM):c.1880+27A>G rs4075913 0.78311
NM_001918.5(DBT):c.*5546G>A rs11166412 0.78278
NM_000275.3(OCA2):c.2244+25C>G rs7175046 0.78077
NM_183050.4(BCKDHB):c.*121G>A rs926733 0.77743
NM_058179.4(PSAT1):c.570+44G>T rs944513 0.77720
NM_004817.4(TJP2):c.1446C>A (p.Asp482Glu) rs2309428 0.77489
NM_054012.4(ASS1):c.597+18A>G rs652313 0.77461
NM_003748.4(ALDH4A1):c.941-48C>T rs6426813 0.76978
NM_002860.4(ALDH18A1):c.88+126A>C rs9787589 0.76474
NM_000048.4(ASL):c.656-102T>C rs313828 0.76440
NM_000187.4(HGD):c.240A>T (p.Gln80His) rs2255543 0.75354
NM_016335.6(PRODH):c.1741C>T (p.Leu581=) rs372055 0.75175
NM_000545.8(HNF1A):c.1623+29T>C rs1169304 0.75160
NM_001918.5(DBT):c.*3233C>T rs2784174 0.74803
NM_001918.5(DBT):c.*5150A>G rs6701655 0.74788
NM_058179.4(PSAT1):c.741-18T>A rs3780194 0.74689
NM_001918.5(DBT):c.*6228A>T rs4281338 0.74605
NM_181697.3(PRDX1):c.107-33A>G rs2356559 0.73044
NM_000137.4(FAH):c.553+33A>G rs1545119 0.73027
NM_018706.7(DHTKD1):c.1671+35C>G rs10906076 0.72736
NM_014362.4(HIBCH):c.136A>G (p.Thr46Ala) rs1058180 0.72415
NM_181507.2(HPS5):c.822C>A (p.Leu274=) rs1140047 0.72384
NM_000137.4(FAH):c.838-196A>G rs11072883 0.72099
NM_003748.4(ALDH4A1):c.1050G>C (p.Ala350=) rs2230705 0.71986
NM_000275.3(OCA2):c.1183-4A>G rs10852218 0.71746
NM_000687.3(AHCY):c.-124C>A rs819146 0.71726
NM_000048.4(ASL):c.655+124A>G rs313829 0.71689
NM_000687.4(AHCY):c.28+1345G>A rs819147 0.71293
NM_012463.4(ATP6V0A2):c.1515T>C (p.Asn505=) rs7135542 0.71178
NM_003748.4(ALDH4A1):c.1380T>C (p.Asp460=) rs2230708 0.71129
NM_000254.3(MTR):c.3711+15G>T rs3820571 0.70934
NM_032383.5(HPS3):c.1692-192T>G rs772903 0.70831
NM_000188.3(HK1):c.1839+31G>A rs749105 0.70672
NM_006623.4(PHGDH):c.1209+149A>T rs627070 0.70206
NM_032383.5(HPS3):c.1164-139A>C rs2254913 0.69958
NM_006623.4(PHGDH):c.1326G>A (p.Thr442=) rs543703 0.69798
NM_006721.4(ADK):c.878-71T>C rs10740443 0.69570
NM_000360.4(TH):c.91-54A>G rs7925375 0.68900
NM_000178.4(GSS):c.275+20T>G rs734111 0.68215
NM_000195.5(HPS1):c.768+64A>G rs2296431 0.67902
NM_002500.5(NEUROD1):c.133A>G (p.Thr45Ala) rs1801262 0.67693
NM_014251.3(SLC25A13):c.328+6A>G rs6957975 0.67687
NM_016180.5(SLC45A2):c.1122G>C (p.Leu374Phe) rs16891982 0.67617
NM_004453.4(ETFDH):c.92C>T (p.Thr31Ile) rs11559290 0.67086
NM_000709.4(BCKDHA):c.853+61T>C rs284651 0.66684
NM_000709.4(BCKDHA):c.1221A>G (p.Leu407=) rs4674 0.66668
NM_000170.3(GLDC):c.*7G>C rs2228098 0.66615
NM_000709.4(BCKDHA):c.972C>T (p.Phe324=) rs284652 0.66509
NM_012463.4(ATP6V0A2):c.294+103T>C rs7301641 0.66467
NM_000709.4(BCKDHA):c.995+90C>T rs284655 0.66401
NM_012463.4(ATP6V0A2):c.426T>C (p.Asn142=) rs1139789 0.66312
NM_002860.4(ALDH18A1):c.304-34A>G rs2275273 0.66239
NM_015702.3(MMADHC):c.479-22G>C rs12232959 0.66236
NM_000108.5(DLD):c.439-7T>C rs10263341 0.66181
NM_012463.4(ATP6V0A2):c.471T>C (p.Ser157=) rs1399961 0.66054
NM_012463.4(ATP6V0A2):c.649-114T>G rs10744159 0.66049
NM_000108.5(DLD):c.199-108T>C rs10250718 0.66040
NM_012463.4(ATP6V0A2):c.432+14C>T rs11837144 0.65907
NM_053013.4(ENO3):c.212A>G (p.Asn71Ser) rs238238 0.65415
NM_000048.4(ASL):c.978+63C>T rs2460432 0.65407
NM_000137.4(FAH):c.82-74T>C rs1370276 0.65071
NM_000277.3(PAH):c.696G>A (p.Gln232=) rs1126758 0.64991
NM_001875.5(CPS1):c.2679C>G (p.Gly893=) rs2287599 0.64925
NM_005566.4(LDHA):c.483C>T (p.Ser161=) rs4687 0.64502
NM_005566.4(LDHA):c.519A>G (p.Leu173=) rs4820 0.64482
NM_016335.6(PRODH):c.553T>C (p.Trp185Arg) rs4819756 0.63786
NM_016335.6(PRODH):c.849+23C>T rs2008903 0.63732
NM_003748.4(ALDH4A1):c.1461-137dup rs35163726 0.63623
NM_000709.4(BCKDHA):c.995+49G>A rs284654 0.63462
NM_003748.4(ALDH4A1):c.1230A>G (p.Ser410=) rs7550938 0.63458
NM_003748.4(ALDH4A1):c.1221A>G (p.Ala407=) rs2230706 0.63390
NM_001701.4(BAAT):c.59G>A (p.Arg20Gln) rs1572983 0.63259
NM_058179.4(PSAT1):c.297T>G (p.Ala99=) rs3739474 0.62693
NM_016335.6(PRODH):c.991T>C (p.Leu331=) rs1808320 0.62390
NM_000360.4(TH):c.577-22C>T rs4074905 0.62210
NM_006623.3(PHGDH):c.-140A>G rs561931 0.61476
NM_000182.5(HADHA):c.573+32T>C rs7593175 0.61061
NM_000137.4(FAH):c.961-35C>A rs2043691 0.61029
NM_000018.4(ACADVL):c.478-106del rs370388543 0.60962
NM_000275.3(OCA2):c.1785-47A>G rs7170989 0.60954
NM_000048.4(ASL):c.12+105C>T rs1183245 0.60874
NM_183050.4(BCKDHB):c.841-73C>T rs3828753 0.60052
NM_001875.5(CPS1):c.1032C>T (p.Thr344=) rs2229589 0.59558
NM_000017.4(ACADS):c.990C>T (p.Arg330=) rs3915 0.59445
NM_000137.4(FAH):c.193-23T>C rs1370274 0.59414
NM_000207.3(INS):c.*22A>C rs3842753 0.59307
NM_001352514.2(HLCS):c.1893-46G>T rs2073421 0.59296
NM_000709.4(BCKDHA):c.376-10A>C rs3213861 0.59120
NM_054012.4(ASS1):c.566+88C>T rs493389 0.59097
NM_000275.3(OCA2):c.1065G>A (p.Ala355=) rs1800404 0.59023
NM_001033044.4(GLUL):c.476-24T>C rs2296519 0.58843
NM_001033044.4(GLUL):c.195T>C (p.Ser65=) rs1058111 0.58837
NM_014049.5(ACAD9):c.347-20C>T rs1683791 0.58733
NM_181507.2(HPS5):c.1511-30G>A rs2305565 0.58312
NM_003060.4(SLC22A5):c.-207C>G rs2631367 0.58257
NM_020166.5(MCCC1):c.1391A>C (p.His464Pro) rs2270968 0.58081
NM_054012.4(ASS1):c.597+178G>A rs486889 0.57370
NM_000018.4(ACADVL):c.1605+6T>C rs17671352 0.56622
NM_054012.4(ASS1):c.105+115G>A rs1615006 0.56622
NM_000188.3(HK1):c.2219+27T>C rs2278745 0.56586
NM_145199.3(LIPT1):c.565T>C (p.Leu189=) rs2632277 0.56210
NM_016335.6(PRODH):c.56C>A (p.Pro19Gln) rs2008720 0.56125
NM_005957.5(MTHFR):c.1166+31C>T rs1994798 0.55967
NM_001482.3(GATM):c.1252T>C (p.Leu418=) rs1145086 0.55793
NM_001715.3(BLK):c.-1-105C>G rs12386974 0.55690
NM_001352514.2(HLCS):c.1438-36G>A rs2073425 0.55169
NM_000275.3(OCA2):c.1551C>T (p.Cys517=) rs1800411 0.54427
NM_153006.3(NAGS):c.*3C>T rs186636 0.54224
NM_000254.3(MTR):c.3576C>T (p.Leu1192=) rs1131449 0.54121
NM_000195.5(HPS1):c.937+192T>C rs1061135 0.53604
NM_001985.3(ETFB):c.461C>T (p.Thr154Met) rs1130426 0.52772
NM_014362.4(HIBCH):c.2T>C (p.Met1Thr) rs291466 0.52671
NM_000170.3(GLDC):c.1850+87T>A rs968197 0.52530
NM_144639.3(UROC1):c.1146-33A>G rs13072404 0.52291
NM_001243177.4(ALDOA):c.142-63G>C rs9783783 0.52268
NM_020686.6(ABAT):c.366+104C>T rs12930438 0.52142
NM_000017.4(ACADS):c.321T>C (p.Arg107=) rs3914 0.51709
NM_000017.4(ACADS):c.625-99T>C rs555404 0.51701
NM_000275.3(OCA2):c.1365-15C>T rs12910433 0.51222
NM_001931.5(DLAT):c.953T>C (p.Val318Ala) rs627441 0.51169
NM_000550.3(TYRP1):c.1409-18dup rs147565972 0.51109
NM_032383.5(HPS3):c.1494G>A (p.Gln498=) rs6440589 0.50726
NM_000018.3(ACADVL):c.-63_-49dup rs6145976 0.50677
NM_145199.3(LIPT1):c.711T>C (p.Ala237=) rs2516835 0.49987
NM_004279.3(PMPCB):c.737-3T>C rs11489600 0.49723
NM_001715.3(BLK):c.330T>C (p.Ser110=) rs3816668 0.49161
NM_144639.3(UROC1):c.1609-31T>G rs777479 0.48975
NM_000275.3(OCA2):c.2328T>C (p.Ala776=) rs1800419 0.47440
NM_018706.7(DHTKD1):c.814T>G (p.Tyr272Asp) rs3740015 0.47407
NM_020686.6(ABAT):c.1381+46C>T rs1079349 0.47341
NM_003748.4(ALDH4A1):c.1251C>T (p.Ala417=) rs2230707 0.47295
NM_032383.5(HPS3):c.2796+50C>T rs2681092 0.46501
NM_018706.7(DHTKD1):c.310+40C>T rs10906066 0.46492
NM_014049.5(ACAD9):c.379A>C (p.Arg127=) rs1680778 0.45398
NM_001482.3(GATM):c.330A>T (p.Gln110His) rs1288775 0.45330
NM_003748.4(ALDH4A1):c.1579+49C>G rs28529092 0.45319
NM_000137.4(FAH):c.82-13G>A rs1370275 0.45099
NM_024101.7(MLPH):c.1221A>G (p.Glu407=) rs2271809 0.44998
NM_002454.3(MTRR):c.66A>G (p.Ile22Met) rs1801394 0.44947
NM_032383.5(HPS3):c.2107-57A>G rs61615092 0.44604
NM_014049.5(ACAD9):c.1150-84T>G rs1683777 0.43929
NM_014049.5(ACAD9):c.1279-7A>G rs1683787 0.43618
NM_014049.5(ACAD9):c.1279-76T>C rs1683786 0.43547
NM_014049.5(ACAD9):c.1359-63T>C rs876754 0.43543
NM_001288833.2(GGT1):c.815T>C (p.Val272Ala) rs4049829 0.43354
NM_015506.3(MMACHC):c.321G>A (p.Val107=) rs2275276 0.43226
NM_000137.4(FAH):c.455+67T>C rs2114716 0.43155
NM_000137.4(FAH):c.364+85T>G rs733679 0.43033
NM_001122633.3(CPS1):c.-16+12G>A rs17552879 0.43006
NM_053013.4(ENO3):c.254T>C (p.Val85Ala) rs238239 0.43006
NM_018444.4(PDP1):c.*36T>C rs4735258 0.42976
NM_001305581.2(LRMDA):c.364T>C (p.Leu122=) rs1898071 0.42882
NM_183050.4(BCKDHB):c.197-11G>T rs9448894 0.42545
NM_000545.8(HNF1A):c.51C>G (p.Leu17=) rs1169289 0.42543
NM_002860.4(ALDH18A1):c.1606-48T>G rs2296692 0.42481
NM_002860.4(ALDH18A1):c.2207-46G>A rs7099284 0.42467
NM_000360.4(TH):c.1334+127T>C rs2070762 0.42406
NM_144639.3(UROC1):c.1845C>T (p.Ala615=) rs1687477 0.42399
NM_000170.3(GLDC):c.2839-57A>G rs2282160 0.42304
NM_003060.4(SLC22A5):c.285T>C (p.Leu95=) rs2631365 0.42203
NM_005334.3(HCFC1):c.5859C>T (p.Cys1953=) rs3027875 0.42119
NM_000481.4(AMT):c.259-109T>G rs4855873 0.42055
NM_001715.3(BLK):c.-1-53G>A rs2245250 0.41844
NM_001715.3(BLK):c.1313-28C>T rs10097015 0.41687
NM_001715.3(BLK):c.123+88G>T rs2245232 0.41611
NM_001739.2(CA5A):c.143-9T>A rs12922226 0.41434
NM_000637.5(GSR):c.696-10C>T rs8190996 0.41377
NM_001352514.2(HLCS):c.2122-30G>A rs2073420 0.40931
NM_000320.3(QDPR):c.-47C>G rs2244788 0.40252
NM_001305581.2(LRMDA):c.516+53C>T rs7924288 0.40010
NM_005589.4(ALDH6A1):c.730+13A>C rs2072293 0.39899
NM_004817.4(TJP2):c.2992-19G>A rs2282335 0.39706
NM_003060.4(SLC22A5):c.807A>G (p.Leu269=) rs274558 0.39440
NM_003060.4(SLC22A5):c.652+77A>G rs274559 0.39418
NM_003060.4(SLC22A5):c.824+13T>C rs274557 0.39418
NM_002860.4(ALDH18A1):c.2206+15G>A rs10882640 0.39029
NM_001715.3(BLK):c.1030-38C>T rs4841561 0.38972
NM_003748.4(ALDH4A1):c.1580-22A>T rs28700162 0.38746
NM_001875.5(CPS1):c.3405-29A>T rs3213784 0.37981
NM_183050.4(BCKDHB):c.952-151G>A rs9341811 0.37802
NM_005334.3(HCFC1):c.2841A>G (p.Pro947=) rs730106 0.37791
NM_005334.3(HCFC1):c.3490T>C (p.Ser1164Pro) rs1051152 0.37778
NM_001305581.2(LRMDA):c.398+31A>C rs1898070 0.37753
NM_000709.4(BCKDHA):c.995+26C>T rs284653 0.37723
NM_001002755.4(NFU1):c.74T>A (p.Met25Lys) rs4453725 0.37294
NM_000188.3(HK1):c.78C>G (p.Leu26=) rs1133189 0.36523
NM_001876.4(CPT1A):c.2142+93C>T rs3019598 0.35902
NM_183050.4(BCKDHB):c.197-25A>G rs9448893 0.35785
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu) rs1169288 0.35489
NM_018368.4(LMBRD1):c.1509+22G>A rs3214021 0.35441
NM_022081.6(HPS4):c.1327C>G (p.Leu443Val) rs2014410 0.35365
NM_014251.3(SLC25A13):c.1194A>G (p.Leu398=) rs2301629 0.34968
NM_014252.4(SLC25A15):c.760A>T (p.Ile254Leu) rs17849654 0.34875
NM_000254.3(MTR):c.3492C>A (p.Arg1164=) rs12070777 0.34762
NM_020686.6(ABAT):c.70+49T>C rs1640998 0.34626
NM_000254.3(MTR):c.3144A>G (p.Ala1048=) rs2229276 0.34551
NM_000274.4(OAT):c.1134C>T (p.Asn378=) rs11461 0.33660
NM_000195.5(HPS1):c.118-54A>T rs2296430 0.33514
NM_024101.7(MLPH):c.1121T>C (p.Val374Ala) rs3817362 0.33210
NM_024101.7(MLPH):c.333-21A>G rs2292879 0.33192
NM_020686.6(ABAT):c.1381+9T>C rs1079348 0.33159
NM_001875.5(CPS1):c.4217C>A (p.Thr1406Asn) rs1047891 0.33052
NM_001931.5(DLAT):c.128C>T (p.Ala43Val) rs2303436 0.32827
NM_018368.4(LMBRD1):c.1407T>A (p.Asp469Glu) rs12648 0.32715
NM_001931.5(DLAT):c.1351G>A (p.Asp451Asn) rs10891314 0.32172
NM_002454.3(MTRR):c.524C>T (p.Ser175Leu) rs1532268 0.31601
NM_000360.4(TH):c.241G>A (p.Val81Met) rs6356 0.31555
NM_000108.5(DLD):c.*18A>T rs8721 0.31455
NM_000108.5(DLD):c.438+83G>A rs17412104 0.31437
NM_001010867.4(IBA57):c.134G>C (p.Gly45Ala) rs55873785 0.31221
NM_002454.3(MTRR):c.1911G>A (p.Ala637=) rs1802059 0.31218
NM_001918.5(DBT):c.1210-9A>T rs34229137 0.31080
NM_000071.3(CBS):c.1080C>T (p.Ala360=) rs1801181 0.30942
NM_000016.6(ACADM):c.286+178G>A rs3818855 0.30613
NM_000016.6(ACADM):c.387+32C>G rs2153126 0.30601
NM_000016.6(ACADM):c.216+10T>C rs2275378 0.30596
NM_005050.4(ABCD4):c.910G>A (p.Ala304Thr) rs4148077 0.30526
NM_005050.4(ABCD4):c.1102G>A (p.Glu368Lys) rs3742801 0.30506
NM_000545.8(HNF1A):c.1501+7G>A rs2464195 0.30441
NM_006859.4(LIAS):c.884-14T>A rs2125314 0.30396
NM_001918.5(DBT):c.*5317T>C rs11166413 0.30273
NM_000925.4(PDHB):c.267+42G>A rs62259772 0.30062
NM_000925.4(PDHB):c.438G>A (p.Gly146=) rs1126551 0.30058
NM_001875.5(CPS1):c.3405-92G>T rs34449727 0.29855
NM_005050.4(ABCD4):c.981C>A (p.Leu327=) rs4148078 0.29827
NM_005050.4(ABCD4):c.184T>C (p.Leu62=) rs2301345 0.29779
NM_000071.3(CBS):c.699C>T (p.Tyr233=) rs234706 0.28613
NM_000481.4(AMT):c.954G>A (p.Arg318=) rs11715915 0.28593
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716 0.28514
NM_000320.3(QDPR):c.396G>A (p.Leu132=) rs2597775 0.28406
NM_153006.3(NAGS):c.1096+20C>G rs228771 0.28327
NM_032383.5(HPS3):c.1163+62T>G rs11715291 0.28038
NM_032383.5(HPS3):c.981A>G (p.Thr327=) rs11718908 0.28006
NM_002860.4(ALDH18A1):c.2110+24A>T rs2296691 0.27977
NM_000274.4(OAT):c.199+19C>T rs10794058 0.27706
NM_000360.4(TH):c.977+8C>G rs12419447 0.27597
NM_183235.3(RAB27A):c.*14C>T rs1050931 0.27464
NM_000254.3(MTR):c.2594+15T>C rs1770449 0.27320
NM_000191.3(HMGCL):c.877-72T>C rs2076343 0.27156
NM_000170.3(GLDC):c.2315+80C>G rs12683164 0.27069
NM_000291.4(PGK1):c.522-24C>T rs2007039 0.26980
NM_000545.8(HNF1A):c.527-23C>T rs1169301 0.26300
NM_000545.8(HNF1A):c.1460G>A (p.Ser487Asn) rs2464196 0.26206
NM_000545.8(HNF1A):c.1375C>T (p.Leu459=) rs2259820 0.26141
NM_000195.5(HPS1):c.636C>T (p.Leu212=) rs1801287 0.25851
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131 0.25830
NM_014049.5(ACAD9):c.555-116C>G rs789213 0.25543
NM_000170.3(GLDC):c.1261+72G>A rs6477094 0.25439
NM_000137.4(FAH):c.960+115G>A rs2162550 0.25281
NM_000016.6(ACADM):c.469-22C>A rs12127402 0.25202
NM_001010867.4(IBA57):c.631G>A (p.Gly211Ser) rs2298014 0.25152
NM_001875.5(CPS1):c.3756+45C>T rs6435580 0.24723
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_014049.5(ACAD9):c.1476C>T (p.Pro492=) rs876755 0.24221
NM_001875.5(CPS1):c.2830-138C>T rs2302908 0.24132
NM_000360.4(TH):c.720G>A (p.Lys240=) rs6357 0.23916
NM_000016.6(ACADM):c.31-32C>G rs7524467 0.23867
NM_000016.6(ACADM):c.945+99T>C rs11161521 0.23825
NM_000016.6(ACADM):c.1161A>G (p.Val387=) rs1061337 0.23824
NM_001902.6(CTH):c.1208G>T (p.Ser403Ile) rs1021737 0.23572
NM_000137.4(FAH):c.706+79A>G rs7180031 0.23394
NM_000137.4(FAH):c.-105G>C rs112474268 0.23230
NM_000277.3(PAH):c.353-22C>T rs2037639 0.23047
NM_000360.4(TH):c.313-88G>A rs4930043 0.22682
NM_015506.3(MMACHC):c.*279A>G rs9729395 0.22677
NM_004817.4(TJP2):c.2715C>T (p.Thr905=) rs2282336 0.22650
NM_004817.4(TJP2):c.2727G>A (p.Ala909=) rs2095876 0.22643
NM_000170.3(GLDC):c.501G>A (p.Glu167=) rs35374927 0.22564
NM_004817.4(TJP2):c.2180-34G>A rs2309421 0.22518
NM_000161.3(GCH1):c.*243C>T rs841 0.22091
NM_003038.5(SLC1A4):c.1195G>A (p.Val399Ile) rs759458 0.21847
NM_001166686.2(PFKM):c.5A>T (p.His2Leu) rs11609399 0.21767
NM_000170.3(GLDC):c.249G>A (p.Gly83=) rs12341698 0.21682
NM_000195.5(HPS1):c.1599-15A>G rs2296435 0.21496
NM_000017.4(ACADS):c.*21G>C rs3916 0.21460
NM_000254.3(MTR):c.2756A>G (p.Asp919Gly) rs1805087 0.21137
NM_002454.3(MTRR):c.537T>C (p.Leu179=) rs161870 0.20980
NM_002454.3(MTRR):c.1049A>G (p.Lys350Arg) rs162036 0.20973
NM_000195.5(HPS1):c.1397+7G>C rs2296432 0.20947
NM_000195.5(HPS1):c.1397+8G>T rs2296433 0.20935
NM_005957.5(MTHFR):c.1167-76G>T rs12121543 0.20910
NM_000170.3(GLDC):c.1261+36A>G rs11789777 0.20837
NM_000275.3(OCA2):c.2364G>A (p.Ser788=) rs12592307 0.19938
NM_000277.3(PAH):c.735G>A (p.Val245=) rs1042503 0.19782
NM_005334.3(HCFC1):c.713-13C>T rs59607260 0.19358
NM_005334.3(HCFC1):c.4185G>A (p.Ala1395=) rs2071133 0.19260
NM_005334.3(HCFC1):c.1085-22C>G rs17421 0.19150
NM_006859.4(LIAS):c.45+15G>A rs2687959 0.18886
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_032383.5(HPS3):c.2107-52A>G rs57943258 0.17569
NM_000182.5(HADHA):c.573+26G>C rs35746418 0.17547
NM_000182.5(HADHA):c.67+51G>T rs62128457 0.17544
NM_032383.5(HPS3):c.1164-25C>T rs2689232 0.17519
NM_000182.5(HADHA):c.180+69G>C rs2303892 0.17014
NM_000182.5(HADHA):c.474C>T (p.Tyr158=) rs11552518 0.16973
NM_000182.5(HADHA):c.68-82T>A rs12987980 0.16953
NM_000182.5(HADHA):c.315-44A>C rs3892649 0.16834
NM_000353.3(TAT):c.43C>T (p.Pro15Ser) rs74344827 0.16727
NM_001739.2(CA5A):c.807A>T (p.Ala269=) rs72816311 0.16645
NM_153006.3(NAGS):c.1086T>C (p.Phe362=) rs55708447 0.16339
NM_001739.2(CA5A):c.453C>T (p.Pro151=) rs7186698 0.16216
NM_005334.3(HCFC1):c.4542G>T (p.Leu1514=) rs3027878 0.16009
NM_005334.3(HCFC1):c.2283C>G (p.Thr761=) rs2071134 0.15977
NM_000274.4(OAT):c.901-22T>C rs17619406 0.15809
NM_032383.5(HPS3):c.2526C>T (p.His842=) rs3732557 0.15600
NM_001382347.1(MYO5A):c.3736C>T (p.Arg1246Cys) rs1058219 0.14826
NM_001382347.1(MYO5A):c.613-26A>G rs72623980 0.14538
NM_000156.6(GAMT):c.460-31G>A rs55776826 0.14411
NM_000126.4(ETFA):c.39+12C>G rs62027051 0.14273
NM_000195.5(HPS1):c.937+88C>T rs34533614 0.13757
NM_212550.5(BLOC1S3):c.270G>A (p.Ala90=) rs758506 0.13313
NM_001918.5(DBT):c.*6903T>A rs10783125 0.12973
NM_005566.4(LDHA):c.348C>A (p.Ile116=) rs6498 0.12798
NM_000195.5(HPS1):c.399-35G>A rs11591594 0.12488
NM_000137.4(FAH):c.*94T>C rs1049194 0.12301
NM_054012.4(ASS1):c.501C>T (p.His167=) rs10901072 0.12154
NM_001918.5(DBT):c.*9082C>T rs72728160 0.12046
NM_014252.4(SLC25A15):c.333C>T (p.Ala111=) rs9577152 0.11997
NM_001352514.2(HLCS):c.1275C>T (p.Ser425=) rs1065758 0.11920
NM_000108.5(DLD):c.*28G>T rs17154615 0.10964
NM_054012.4(ASS1):c.876T>C (p.His292=) rs1057484 0.10667
NM_014049.5(ACAD9):c.1358+152T>C rs13081342 0.10235
NM_002860.4(ALDH18A1):c.896C>T (p.Thr299Ile) rs2275272 0.10214
NM_000195.5(HPS1):c.1808A>G (p.Gln603Arg) rs2296436 0.09989
NM_000195.5(HPS1):c.1335+48G>A rs41317034 0.09953
NM_000709.3(BCKDHA):c.-34T>G rs45500792 0.09943
NM_001875.5(CPS1):c.2193-15G>T rs2287600 0.09707
NM_005957.5(MTHFR):c.1056C>T (p.Ser352=) rs2066462 0.09546
NM_003060.4(SLC22A5):c.*47C>T rs1045020 0.09512
NM_005629.4(SLC6A8):c.394+88G>A rs6643763 0.09180
NM_001876.4(CPT1A):c.963G>A (p.Glu321=) rs2229737 0.08543
NM_014252.4(SLC25A15):c.117G>A (p.Thr39=) rs41396747 0.08535
NM_001876.4(CPT1A):c.968-8C>T rs2305507 0.08414
NM_000709.4(BCKDHA):c.116C>A (p.Pro39His) rs11549936 0.07892
NM_003060.4(SLC22A5):c.394-296C>T rs2073642 0.07739
NM_000275.3(OCA2):c.913C>T (p.Arg305Trp) rs1800401 0.07659
NM_000137.4(FAH):c.267G>C (p.Leu89=) rs33929922 0.07529
NM_003060.4(SLC22A5):c.-77G>A rs13180295 0.07424
NM_003060.4(SLC22A5):c.-78C>T rs13180043 0.07424
NM_000126.4(ETFA):c.817-32A>G rs62030234 0.07095
NM_000156.6(GAMT):c.626C>T (p.Thr209Met) rs17851582 0.07010
NM_003060.4(SLC22A5):c.1052+101A>G rs2073645 0.06948
NM_183050.4(BCKDHB):c.344-24C>T rs73479953 0.06567
NM_183050.4(BCKDHB):c.344-88C>T rs73479950 0.06563
NM_000126.4(ETFA):c.512C>T (p.Thr171Ile) rs1801591 0.06414
NM_000137.4(FAH):c.1056C>T (p.Ser352=) rs1801374 0.06041
NM_001876.4(CPT1A):c.823G>A (p.Ala275Thr) rs2229738 0.05682
NM_015506.3(MMACHC):c.811A>G (p.Ser271Gly) rs35219601 0.04960
NM_000195.5(HPS1):c.297C>T (p.Thr99=) rs11539873 0.04930
NM_014049.5(ACAD9):c.-44_-41dup rs387906242 0.04863
NM_001382347.1(MYO5A):c.456-4A>G rs61363656 0.04815
NM_001918.5(DBT):c.1210-10T>A rs183058253 0.04736
NM_001918.5(DBT):c.*4395G>A rs79471979 0.04616
NM_001931.5(DLAT):c.626A>G (p.Gln209Arg) rs11553595 0.04510
NM_001918.5(DBT):c.*985C>T rs11166414 0.04442
NM_001918.5(DBT):c.*5838G>A rs79887429 0.04380
NM_000048.4(ASL):c.602+13C>T rs12536292 0.04315
NM_000016.6(ACADM):c.*39G>A rs17848065 0.04004
NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln) rs2274976 0.03996
NM_001918.5(DBT):c.715A>G (p.Ile239Val) rs72973763 0.03442
NM_000126.4(ETFA):c.733+38T>C rs78052129 0.03317
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp) rs1800556 0.03280
NM_032383.5(HPS3):c.1479G>A (p.Thr493=) rs34197730 0.03245
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_014252.4(SLC25A15):c.*48T>A rs145530626 0.03065
NM_001918.5(DBT):c.1281+31T>G rs115696850 0.03046
NM_001918.5(DBT):c.*6646G>T rs72973747 0.03031
NM_003060.4(SLC22A5):c.393+17G>A rs11568522 0.02888
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328 0.02868
NM_015506.3(MMACHC):c.178G>C (p.Asp60His) rs6662272 0.02835
NM_014049.5(ACAD9):c.976G>A (p.Ala326Thr) rs115532916 0.02662
NM_001918.5(DBT):c.*344G>T rs58607634 0.02661
NM_032383.5(HPS3):c.970+7A>G rs114029765 0.02580
NM_003060.4(SLC22A5):c.1645C>T (p.Pro549Ser) rs11568525 0.02345
NM_003060.4(SLC22A5):c.430C>T (p.Leu144Phe) rs10040427 0.02340
NM_000016.6(ACADM):c.31-73T>C rs142795930 0.02211
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp) rs11555096 0.02131
NM_001352514.2(HLCS):c.*40A>G rs77014096 0.02028
NM_000137.4(FAH):c.455+29G>A rs2278204 0.01872
NM_001875.5(CPS1):c.2448C>T (p.Cys816=) rs75395645 0.01788
NM_002454.3(MTRR):c.1761T>C (p.Tyr587=) rs6874544 0.01706
NM_006623.4(PHGDH):c.139-13T>C rs894078 0.01680
NM_001876.4(CPT1A):c.967+3G>A rs75677837 0.01623
NM_005957.5(MTHFR):c.1958C>T (p.Thr653Met) rs35737219 0.01462
NM_000048.4(ASL):c.1164C>T (p.His388=) rs75300185 0.01380
NM_015506.3(MMACHC):c.738C>T (p.Pro246=) rs16832550 0.01337
NM_015506.3(MMACHC):c.*269A>G rs35067820 0.01308
NM_006623.4(PHGDH):c.318C>T (p.Ala106=) rs115747918 0.01251
NM_001918.5(DBT):c.*5919A>G rs115442245 0.01236
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=) rs34749281 0.01204
NM_006623.4(PHGDH):c.792+6T>G rs146953046 0.01118
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971 0.01088
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143 0.01036
NM_001918.5(DBT):c.1281+6T>G rs140115881 0.01022
NM_001876.4(CPT1A):c.556-19T>G rs117610994 0.00984
NM_000191.2(HMGCL):c.-59A>C rs188188846 0.00929
NM_001918.5(DBT):c.724T>C (p.Ser242Pro) rs146249007 0.00864
NM_006623.4(PHGDH):c.357-17T>C rs76447100 0.00863
NM_001918.5(DBT):c.*8552A>T rs543411196 0.00862
NM_000360.4(TH):c.487+3G>A rs11042950 0.00795
NM_000191.3(HMGCL):c.48G>A (p.Ala16=) rs115611440 0.00769
NM_000481.4(AMT):c.631G>A (p.Glu211Lys) rs116192290 0.00735
NM_001931.5(DLAT):c.55G>C (p.Glu19Gln) rs61757217 0.00689
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330 0.00630
NM_006623.4(PHGDH):c.595C>G (p.Leu199Val) rs77632964 0.00622
NM_000275.3(OCA2):c.574-19A>G rs145242923 0.00618
NM_000018.3(ACADVL):c.-64T>C rs77051465 0.00545
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg) rs61738394 0.00532
NM_000191.3(HMGCL):c.*194C>G rs192071003 0.00530
NM_000137.4(FAH):c.315-14G>A rs139830755 0.00521
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952 0.00461
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_003060.4(SLC22A5):c.1451-16G>A rs140988771 0.00371
NM_000275.3(OCA2):c.1109T>C (p.Ile370Thr) rs34731820 0.00369
NM_003060.4(SLC22A5):c.1249A>G (p.Met417Val) rs139775414 0.00365
NM_003060.4(SLC22A5):c.59T>A (p.Leu20His) rs144020613 0.00362
NM_000360.4(TH):c.267G>A (p.Arg89=) rs76240471 0.00359
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_001918.5(DBT):c.506G>A (p.Arg169Gln) rs34267966 0.00341
NM_000191.3(HMGCL):c.61-17C>T rs56913973 0.00337
NM_003060.4(SLC22A5):c.1368A>G (p.Thr456=) rs142355575 0.00335
NM_003060.4(SLC22A5):c.1590G>T (p.Met530Ile) rs148233131 0.00335
NM_000275.3(OCA2):c.1744C>T (p.Leu582=) rs61751032 0.00302
NM_001918.5(DBT):c.76T>C (p.Cys26Arg) rs145674833 0.00302
NM_032383.5(HPS3):c.2055G>A (p.Leu685=) rs140443498 0.00300
NM_000195.5(HPS1):c.1683C>T (p.Cys561=) rs112337765 0.00297
NM_000191.3(HMGCL):c.393A>G (p.Ser131=) rs56218308 0.00290
NM_016335.6(PRODH):c.1562G>A (p.Arg521Gln) rs450046 0.00287
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys) rs117687681 0.00255
NM_005629.4(SLC6A8):c.1494C>T (p.Tyr498=) rs143916832 0.00249
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617 0.00244
NM_000018.4(ACADVL):c.-36A>G rs372592554 0.00243
NM_183050.4(BCKDHB):c.742+16A>G rs140373763 0.00220
NM_000275.3(OCA2):c.1153T>A (p.Phe385Ile) rs137956605 0.00213
NM_000182.5(HADHA):c.-1G>T rs72809666 0.00211
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg) rs57443665 0.00202
NM_003060.4(SLC22A5):c.1434C>T (p.Pro478=) rs140495935 0.00202
NM_015506.3(MMACHC):c.276+17T>A rs115028762 0.00201
NM_001918.5(DBT):c.1418A>G (p.Asn473Ser) rs75525811 0.00196
NM_006623.4(PHGDH):c.1158G>T (p.Ala386=) rs144484007 0.00191
NM_000709.4(BCKDHA):c.485-28G>A rs114178789 0.00186
NM_001918.5(DBT):c.753C>T (p.Asp251=) rs79292123 0.00179
NM_000275.3(OCA2):c.1560C>A (p.Leu520=) rs140932222 0.00176
NM_000372.5(TYR):c.1366+4A>G rs61754398 0.00175
NM_000191.3(HMGCL):c.497+19G>A rs187735179 0.00172
NM_001370658.1(BTD):c.201C>T (p.Asn67=) rs147057169 0.00156
NM_001918.5(DBT):c.175+37G>A rs76902654 0.00154
NM_006623.4(PHGDH):c.624T>C (p.Pro208=) rs77401816 0.00154
NM_003060.4(SLC22A5):c.-149G>A rs57262206 0.00144
NM_000372.5(TYR):c.650G>A (p.Arg217Gln) rs61754365 0.00143
NM_006623.4(PHGDH):c.510+6A>G rs371736796 0.00133
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923 0.00120
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val) rs141373204 0.00119
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167 0.00116
NM_000275.3(OCA2):c.2293G>A (p.Ala765Thr) rs145968118 0.00115
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp) rs11568514 0.00114
NM_000277.3(PAH):c.*19G>T rs372637021 0.00103
NM_000126.4(ETFA):c.826A>C (p.Ile276Leu) rs141200145 0.00096
NM_000372.5(TYR):c.665T>C (p.Ile222Thr) rs34878847 0.00096
NM_000016.6(ACADM):c.994C>T (p.Leu332=) rs138098371 0.00093
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_000709.4(BCKDHA):c.708C>T (p.Phe236=) rs146932786 0.00092
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776 0.00091
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile) rs149291867 0.00087
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) rs61745150 0.00086
NM_001370658.1(BTD):c.1041C>T (p.Gly347=) rs142421934 0.00086
NM_003060.4(SLC22A5):c.934A>G (p.Ile312Val) rs77300588 0.00085
NM_000352.6(ABCC8):c.1707C>T (p.Ala569=) rs147623093 0.00083
NM_000275.3(OCA2):c.*1T>C rs138228425 0.00081
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys) rs201617713 0.00081
NM_003060.4(SLC22A5):c.1380C>T (p.Asn460=) rs149521997 0.00079
NM_000275.3(OCA2):c.1117-17T>C rs200081580 0.00078
NM_003060.4(SLC22A5):c.279G>C (p.Ser93=) rs377734902 0.00073
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp) rs200483477 0.00072
NM_000289.6(PFKM):c.453G>A (p.Thr151=) rs144370737 0.00071
NM_000275.3(OCA2):c.1857C>T (p.Asp619=) rs7164127 0.00070
NM_153006.3(NAGS):c.1302C>T (p.Pro434=) rs150004962 0.00068
NM_000018.4(ACADVL):c.1567G>A (p.Gly523Arg) rs139425622 0.00066
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser) rs139203363 0.00066
NM_000071.3(CBS):c.296T>A (p.Phe99Tyr) rs112029370 0.00064
NM_006623.4(PHGDH):c.985A>T (p.Thr329Ser) rs201298102 0.00064
NM_003060.4(SLC22A5):c.1579G>C (p.Val527Leu) rs145792427 0.00063
NM_000709.4(BCKDHA):c.1191C>T (p.Ala397=) rs374403946 0.00062
NM_003060.4(SLC22A5):c.1441G>A (p.Val481Ile) rs11568513 0.00061
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser) rs386834233 0.00061
NM_003060.4(SLC22A5):c.414C>T (p.Asp138=) rs150705788 0.00059
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_000017.4(ACADS):c.669G>A (p.Thr223=) rs17848089 0.00056
NM_003060.4(SLC22A5):c.1142T>C (p.Met381Thr) rs149730454 0.00056
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys) rs61732144 0.00055
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp) rs143218168 0.00054
NM_000709.4(BCKDHA):c.289-5C>T rs200646708 0.00053
NM_000709.4(BCKDHA):c.1081A>G (p.Ile361Val) rs61736656 0.00052
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921 0.00052
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388 0.00051
NM_000372.5(TYR):c.504C>T (p.Asn168=) rs148813091 0.00051
NM_000182.5(HADHA):c.652G>C (p.Val218Leu) rs71441018 0.00050
NM_001918.5(DBT):c.1210-11T>A rs751951997 0.00049
NM_000017.4(ACADS):c.988C>T (p.Arg330Cys) rs140853839 0.00046
NM_000275.3(OCA2):c.1762C>T (p.Arg588Trp) rs150711896 0.00045
NM_000191.3(HMGCL):c.443A>G (p.Gln148Arg) rs192833530 0.00043
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) rs121918170 0.00043
NM_000709.4(BCKDHA):c.288C>T (p.His96=) rs148571328 0.00043
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652 0.00043
NM_000048.4(ASL):c.392C>T (p.Thr131Met) rs143793815 0.00042
NM_000017.4(ACADS):c.624+8C>T rs371550264 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_000709.4(BCKDHA):c.63C>T (p.Ala21=) rs140322984 0.00038
NM_015506.3(MMACHC):c.67G>T (p.Val23Phe) rs201898615 0.00038
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000709.4(BCKDHA):c.664G>A (p.Ala222Thr) rs141086188 0.00036
NM_003060.4(SLC22A5):c.605T>C (p.Leu202Pro) rs142447950 0.00035
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00034
NM_001902.6(CTH):c.15C>A (p.Asp5Glu) rs143859234 0.00034
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val) rs371412500 0.00032
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu) rs183487020 0.00031
NM_006623.4(PHGDH):c.296C>G (p.Pro99Arg) rs182600362 0.00030
NM_000191.3(HMGCL):c.604C>T (p.Leu202=) rs146602259 0.00029
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
NM_000372.5(TYR):c.140G>A (p.Gly47Asp) rs61753180 0.00029
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160 0.00029
NM_000709.4(BCKDHA):c.294G>A (p.Pro98=) rs142967869 0.00029
NM_003060.4(SLC22A5):c.287G>C (p.Gly96Ala) rs377767450 0.00029
NM_000275.3(OCA2):c.45G>A (p.Pro15=) rs202091837 0.00028
NM_000531.6(OTC):c.941A>C (p.Glu314Ala) rs137899554 0.00028
NM_003060.4(SLC22A5):c.529A>G (p.Met177Val) rs145068530 0.00028
NM_183050.4(BCKDHB):c.744G>A (p.Ala248=) rs147719822 0.00026
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys) rs142931246 0.00025
NM_001918.5(DBT):c.901C>T (p.Arg301Cys) rs185492864 0.00025
NM_015506.3(MMACHC):c.126G>A (p.Pro42=) rs201112314 0.00025
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641 0.00025
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe) rs1800408 0.00024
NM_000709.4(BCKDHA):c.744C>T (p.Ala248=) rs137960127 0.00024
NM_001918.5(DBT):c.37A>G (p.Asn13Asp) rs140308307 0.00024
NM_003060.4(SLC22A5):c.1010C>T (p.Thr337Ile) rs142479732 0.00024
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met) rs144812594 0.00023
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) rs121918167 0.00023
NM_000277.3(PAH):c.1161C>T (p.Tyr387=) rs149595475 0.00023
NM_000277.3(PAH):c.165T>G (p.Phe55Leu) rs199475598 0.00023
NM_001918.5(DBT):c.1210-8A>T rs535837017 0.00023
NM_003060.4(SLC22A5):c.-26G>A rs369724970 0.00023
NM_003060.4(SLC22A5):c.1643G>A (p.Arg548Lys) rs150775371 0.00023
NM_000372.5(TYR):c.1446G>C (p.Ala482=) rs3913543 0.00022
NM_001918.5(DBT):c.670G>T (p.Glu224Ter) rs74103423 0.00022
NM_054012.4(ASS1):c.-4C>T rs138350285 0.00022
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) rs141949212 0.00021
NM_000709.4(BCKDHA):c.1251C>T (p.Pro417=) rs147021347 0.00021
NM_000709.4(BCKDHA):c.125A>G (p.Gln42Arg) rs150177278 0.00021
NM_003060.4(SLC22A5):c.1053-3C>T rs149201271 0.00021
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu) rs28941773 0.00020
NM_000071.3(CBS):c.397G>A (p.Asp133Asn) rs539326697 0.00019
NM_000275.3(OCA2):c.106C>T (p.Arg36Cys) rs148066812 0.00019
NM_000275.3(OCA2):c.1160C>T (p.Thr387Met) rs150335311 0.00019
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314 0.00019
NM_006623.4(PHGDH):c.1258G>A (p.Glu420Lys) rs140979375 0.00019
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu) rs201312386 0.00019
NM_183050.4(BCKDHB):c.987C>T (p.His329=) rs138670449 0.00019
NM_000275.3(OCA2):c.727C>T (p.Arg243Cys) rs138065338 0.00018
NM_000372.5(TYR):c.242C>T (p.Pro81Leu) rs28940876 0.00018
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln) rs147474255 0.00018
NM_003060.4(SLC22A5):c.1377A>G (p.Arg459=) rs142264458 0.00018
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met) rs114269482 0.00018
NM_000372.5(TYR):c.915C>A (p.Asp305Glu) rs142170797 0.00017
NM_003060.4(SLC22A5):c.852C>T (p.Leu284=) rs146185976 0.00017
NM_000017.4(ACADS):c.465C>T (p.Ser155=) rs141492002 0.00016
NM_000191.3(HMGCL):c.145-8C>T rs369286537 0.00016
NM_000275.3(OCA2):c.1239+5G>C rs757119713 0.00016
NM_000372.5(TYR):c.573A>G (p.Gly191=) rs372123800 0.00016
NM_000709.4(BCKDHA):c.420G>A (p.Thr140=) rs143608852 0.00016
NM_003060.4(SLC22A5):c.1043T>C (p.Ile348Thr) rs150544263 0.00016
NM_003060.4(SLC22A5):c.904A>G (p.Lys302Glu) rs75783492 0.00016
NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter) rs398124598 0.00015
NM_000017.4(ACADS):c.825C>T (p.Ile275=) rs200652158 0.00014
NM_000275.3(OCA2):c.1182+1G>A rs371963034 0.00014
NM_000372.5(TYR):c.1467dup (p.Ala490fs) rs61754399 0.00014
NM_003060.4(SLC22A5):c.1440C>T (p.Phe480=) rs150457229 0.00014
NM_014251.3(SLC25A13):c.1275G>A (p.Ser425=) rs376416252 0.00014
NM_000018.4(ACADVL):c.478-89T>C rs9646410 0.00013
NM_000071.3(CBS):c.670C>T (p.Arg224Cys) rs139456571 0.00013
NM_000531.6(OTC):c.385C>T (p.Arg129Cys) rs140046498 0.00013
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870 0.00013
NM_000709.4(BCKDHA):c.663C>T (p.Tyr221=) rs151227241 0.00013
NM_001918.5(DBT):c.747C>A (p.Gly249=) rs200612682 0.00013
NM_015506.3(MMACHC):c.584G>C (p.Gly195Ala) rs754862915 0.00013
NM_000191.3(HMGCL):c.419A>G (p.Asn140Ser) rs148032473 0.00012
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_000275.3(OCA2):c.1785-7C>G rs375281082 0.00011
NM_000372.5(TYR):c.1161T>C (p.Leu387=) rs141967840 0.00011
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser) rs104894317 0.00011
NM_000531.6(OTC):c.140A>C (p.Asn47Thr) rs67939655 0.00011
NM_001918.5(DBT):c.827T>G (p.Phe276Cys) rs121964999 0.00011
NM_006623.4(PHGDH):c.1346A>G (p.Asn449Ser) rs141662984 0.00011
NM_006623.4(PHGDH):c.689G>A (p.Arg230His) rs777155018 0.00011
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242 0.00011
NM_015506.3(MMACHC):c.783G>A (p.Gly261=) rs776623221 0.00011
NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly) rs200764804 0.00010
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
NM_000709.4(BCKDHA):c.159G>C (p.Gln53His) rs775471043 0.00010
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688 0.00010
NM_003060.4(SLC22A5):c.43G>T (p.Gly15Trp) rs267607052 0.00010
NM_015506.3(MMACHC):c.165G>A (p.Thr55=) rs369883781 0.00010
NM_015506.3(MMACHC):c.641G>A (p.Arg214His) rs202189863 0.00010
NM_032383.5(HPS3):c.392C>T (p.Pro131Leu) rs577273287 0.00010
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) rs79761867 0.00010
NM_000017.4(ACADS):c.*4C>T rs774815274 0.00009
NM_000017.4(ACADS):c.1108A>G (p.Met370Val) rs566325901 0.00009
NM_000191.3(HMGCL):c.375C>T (p.Val125=) rs139102957 0.00009
NM_000191.3(HMGCL):c.498-10C>A rs373505626 0.00009
NM_000275.3(OCA2):c.1479T>G (p.Val493=) rs374434751 0.00009
NM_000275.3(OCA2):c.2245-6C>A rs368772032 0.00009
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile) rs765779905 0.00009
NM_000275.3(OCA2):c.2432+11A>G rs145577954 0.00009
NM_000360.4(TH):c.51C>T (p.Ala17=) rs199645400 0.00009
NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro) rs398123508 0.00009
NM_001918.5(DBT):c.556-7T>C rs755448648 0.00009
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys) rs60376624 0.00009
NM_006623.4(PHGDH):c.422C>T (p.Thr141Ile) rs200037593 0.00009
NM_015506.3(MMACHC):c.462T>C (p.Phe154=) rs199747998 0.00009
NM_015506.3(MMACHC):c.650A>T (p.Glu217Val) rs199641732 0.00009
NM_015506.3(MMACHC):c.699A>G (p.Leu233=) rs377439596 0.00009
NM_054012.4(ASS1):c.919C>T (p.Arg307Cys) rs183276875 0.00009
NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys) rs28940872 0.00008
NM_000275.3(OCA2):c.1503+5G>A rs368124046 0.00008
NM_000372.5(TYR):c.613C>A (p.Pro205Thr) rs61754362 0.00008
NM_006623.4(PHGDH):c.181G>A (p.Ala61Thr) rs140185619 0.00008
NM_000191.3(HMGCL):c.244G>A (p.Val82Ile) rs538620811 0.00007
NM_000925.4(PDHB):c.-4C>T rs778465584 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_006623.4(PHGDH):c.910G>A (p.Val304Met) rs149175408 0.00007
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln) rs121918243 0.00007
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg) rs121908646 0.00007
NM_000017.4(ACADS):c.1095G>T (p.Gln365His) rs368469075 0.00006
NM_000017.4(ACADS):c.1192C>T (p.Gln398Ter) rs767774362 0.00006
NM_000017.4(ACADS):c.575C>T (p.Ala192Val) rs28940874 0.00006
NM_000017.4(ACADS):c.668C>T (p.Thr223Met) rs143131689 0.00006
NM_000017.4(ACADS):c.814C>T (p.Arg272Cys) rs539219309 0.00006
NM_000017.4(ACADS):c.973C>T (p.Arg325Trp) rs121908006 0.00006
NM_000048.4(ASL):c.1045G>A (p.Val349Ile) rs372774556 0.00006
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter) rs763494292 0.00006
NM_000275.3(OCA2):c.2043C>G (p.Thr681=) rs368126732 0.00006
NM_000275.3(OCA2):c.632C>T (p.Pro211Leu) rs190612616 0.00006
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881 0.00006
NM_000372.5(TYR):c.229C>T (p.Arg77Trp) rs61753184 0.00006
NM_000372.5(TYR):c.230G>A (p.Arg77Gln) rs61753185 0.00006
NM_000372.5(TYR):c.896G>A (p.Arg299His) rs61754375 0.00006
NM_000709.4(BCKDHA):c.978C>T (p.Ile326=) rs398123514 0.00006
NM_001918.5(DBT):c.1127G>A (p.Arg376His) rs150934375 0.00006
NM_001918.5(DBT):c.1281+5A>G rs199571242 0.00006
NM_003060.4(SLC22A5):c.1193C>T (p.Pro398Leu) rs144547521 0.00006
NM_006623.4(PHGDH):c.1255G>A (p.Gly419Arg) rs145344767 0.00006
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met) rs121907987 0.00006
NM_006623.4(PHGDH):c.706C>T (p.Arg236Cys) rs147066269 0.00006
NM_006623.4(PHGDH):c.809G>A (p.Arg270Gln) rs375031910 0.00006
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter) rs370596113 0.00006
NM_183050.4(BCKDHB):c.509G>A (p.Arg170His) rs371518124 0.00006
NM_000018.4(ACADVL):c.1754C>T (p.Ala585Val) rs374729641 0.00005
NM_000274.4(OAT):c.1250C>T (p.Pro417Leu) rs121965044 0.00005
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys) rs121918169 0.00005
NM_000289.6(PFKM):c.722A>G (p.Glu241Gly) rs148544344 0.00005
NM_000372.5(TYR):c.1063G>C (p.Ala355Pro) rs62645908 0.00005
NM_000531.6(OTC):c.118C>T (p.Arg40Cys) rs72554307 0.00005
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys) rs369102875 0.00005
NM_001875.5(CPS1):c.3538G>A (p.Ala1180Thr) rs776047286 0.00005
NM_001918.5(DBT):c.1111G>A (p.Ala371Thr) rs777868718 0.00005
NM_001918.5(DBT):c.291C>T (p.Ser97=) rs201318480 0.00005
NM_001918.5(DBT):c.572T>G (p.Val191Gly) rs146894954 0.00005
NM_003060.4(SLC22A5):c.1462C>T (p.Arg488Cys) rs377216516 0.00005
NM_003060.4(SLC22A5):c.51C>G (p.Phe17Leu) rs11568520 0.00005
NM_003060.4(SLC22A5):c.844C>T (p.Arg282Ter) rs121908886 0.00005
NM_003060.4(SLC22A5):c.892C>T (p.Arg298Cys) rs755114089 0.00005
NM_006623.4(PHGDH):c.262G>A (p.Ala88Thr) rs142988234 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_015506.3(MMACHC):c.329A>G (p.Asn110Ser) rs781133955 0.00005
NM_000017.4(ACADS):c.1104C>T (p.Gly368=) rs200165866 0.00004
NM_000017.4(ACADS):c.1138C>T (p.Arg380Trp) rs28940875 0.00004
NM_000017.4(ACADS):c.147C>G (p.Ala49=) rs202193021 0.00004
NM_000017.4(ACADS):c.417G>C (p.Trp139Cys) rs149107232 0.00004
NM_000017.4(ACADS):c.663G>T (p.Gly221=) rs751023929 0.00004
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln) rs121964997 0.00004
NM_000191.3(HMGCL):c.145-13C>T rs762224192 0.00004
NM_000191.3(HMGCL):c.698A>G (p.His233Arg) rs727503963 0.00004
NM_000191.3(HMGCL):c.805G>A (p.Ala269Thr) rs368688262 0.00004
NM_000191.3(HMGCL):c.950A>G (p.Lys317Arg) rs777758512 0.00004
NM_000275.3(OCA2):c.1183A>C (p.Met395Leu) rs757286784 0.00004
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val) rs200457227 0.00004
NM_000275.3(OCA2):c.2363C>T (p.Ser788Leu) rs147736385 0.00004
NM_000277.3(PAH):c.727C>T (p.Arg243Ter) rs5030846 0.00004
NM_000352.6(ABCC8):c.3463G>A (p.Val1155Ile) rs759961510 0.00004
NM_000360.4(TH):c.599G>A (p.Arg200His) rs201224335 0.00004
NM_000360.4(TH):c.794G>A (p.Arg265Gln) rs199961079 0.00004
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011 0.00004
NM_000372.5(TYR):c.1199G>T (p.Trp400Leu) rs62645916 0.00004
NM_000372.5(TYR):c.1204C>T (p.Arg402Ter) rs62645917 0.00004
NM_000372.5(TYR):c.1264C>T (p.Arg422Trp) rs749979474 0.00004
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904 0.00004
NM_000372.5(TYR):c.980A>G (p.Tyr327Cys) rs1031268531 0.00004
NM_000481.4(AMT):c.280C>T (p.Arg94Trp) rs1126422 0.00004
NM_000709.4(BCKDHA):c.1080C>T (p.Pro360=) rs373390136 0.00004
NM_000709.4(BCKDHA):c.1192G>A (p.Glu398Lys) rs201168715 0.00004
NM_001876.4(CPT1A):c.145G>A (p.Gly49Ser) rs552007692 0.00004
NM_001918.5(DBT):c.1143C>G (p.Gly381=) rs1052326198 0.00004
NM_001918.5(DBT):c.1210-10_1210-9del rs794726986 0.00004
NM_001918.5(DBT):c.75_76del (p.Cys26fs) rs768832921 0.00004
NM_003060.4(SLC22A5):c.1113C>T (p.Asp371=) rs200637508 0.00004
NM_003060.4(SLC22A5):c.1296G>C (p.Val432=) rs755533900 0.00004
NM_003060.4(SLC22A5):c.1319C>T (p.Thr440Met) rs72552732 0.00004
NM_003060.4(SLC22A5):c.680G>A (p.Arg227His) rs185551386 0.00004
NM_003060.4(SLC22A5):c.811G>A (p.Val271Met) rs143013773 0.00004
NM_015506.3(MMACHC):c.296T>C (p.Ile99Thr) rs370229341 0.00004
NM_015506.3(MMACHC):c.402T>C (p.Asp134=) rs774024065 0.00004
NM_015506.3(MMACHC):c.700T>C (p.Leu234=) rs199964843 0.00004
NM_015506.3(MMACHC):c.88T>C (p.Trp30Arg) rs745419717 0.00004
NM_181697.3(PRDX1):c.515-1G>T rs751828470 0.00004
NM_183050.4(BCKDHB):c.502C>T (p.Arg168Cys) rs398124579 0.00004
NM_183050.4(BCKDHB):c.727C>T (p.Leu243Phe) rs398124591 0.00004
NM_000017.4(ACADS):c.1057T>C (p.Ser353Pro) rs796051904 0.00003
NM_000017.4(ACADS):c.1156C>T (p.Arg386Cys) rs537072819 0.00003
NM_000017.4(ACADS):c.815G>A (p.Arg272His) rs374726386 0.00003
NM_000071.3(CBS):c.374G>A (p.Arg125Gln) rs781444670 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_000275.3(OCA2):c.157del (p.Arg53fs) rs758894409 0.00003
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu) rs780296175 0.00003
NM_000277.3(PAH):c.526C>T (p.Arg176Ter) rs199475575 0.00003
NM_000277.3(PAH):c.631C>A (p.Pro211Thr) rs62514931 0.00003
NM_000372.5(TYR):c.1064C>T (p.Ala355Val) rs151206295 0.00003
NM_000372.5(TYR):c.346C>T (p.Arg116Ter) rs61753256 0.00003
NM_000372.5(TYR):c.533G>A (p.Trp178Ter) rs61754360 0.00003
NM_000709.4(BCKDHA):c.137C>A (p.Ser46Ter) rs376456598 0.00003
NM_000709.4(BCKDHA):c.288+9C>T rs398123497 0.00003
NM_000709.4(BCKDHA):c.293C>T (p.Pro98Leu) rs532803527 0.00003
NM_000709.4(BCKDHA):c.330A>T (p.Thr110=) rs201366184 0.00003
NM_000709.4(BCKDHA):c.890G>A (p.Arg297His) rs200137189 0.00003
NM_000709.4(BCKDHA):c.910T>C (p.Phe304Leu) rs398123511 0.00003
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu) rs397514427 0.00003
NM_001902.6(CTH):c.541G>A (p.Asp181Asn) rs748301555 0.00003
NM_003060.4(SLC22A5):c.1053-2A>C rs777004046 0.00003
NM_003060.4(SLC22A5):c.1229G>A (p.Gly410Asp) rs200125400 0.00003
NM_003060.4(SLC22A5):c.131C>T (p.Ala44Val) rs199689597 0.00003
NM_003060.4(SLC22A5):c.1587-11T>G rs772775759 0.00003
NM_003060.4(SLC22A5):c.377C>A (p.Ser126Tyr) rs568906114 0.00003
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser) rs151231558 0.00003
NM_003060.4(SLC22A5):c.451G>A (p.Val151Met) rs386134193 0.00003
NM_003060.4(SLC22A5):c.453G>A (p.Val151=) rs386134194 0.00003
NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln) rs121908889 0.00003
NM_003060.4(SLC22A5):c.523G>A (p.Val175Met) rs781721860 0.00003
NM_003060.4(SLC22A5):c.530T>C (p.Met177Thr) rs761866020 0.00003
NM_006623.4(PHGDH):c.802C>T (p.Arg268Trp) rs142622658 0.00003
NM_006623.4(PHGDH):c.932C>T (p.Ser311Phe) rs143340742 0.00003
NM_015506.3(MMACHC):c.495G>A (p.Leu165=) rs761111018 0.00003
NM_015506.3(MMACHC):c.615C>A (p.Tyr205Ter) rs747527726 0.00003
NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter) rs201266016 0.00003
NM_015506.3(MMACHC):c.82-10T>C rs778416032 0.00003
NM_183050.4(BCKDHB):c.33_34del (p.Leu12fs) rs398124572 0.00003
NM_000017.4(ACADS):c.1105G>A (p.Gly369Ser) rs145466253 0.00002
NM_000017.4(ACADS):c.826G>A (p.Ala276Thr) rs199717731 0.00002
NM_000018.4(ACADVL):c.963C>T (p.Asn321=) rs568118142 0.00002
NM_000048.4(ASL):c.1165G>A (p.Glu389Lys) rs1465800300 0.00002
NM_000048.4(ASL):c.243G>C (p.Leu81=) rs774204716 0.00002
NM_000191.3(HMGCL):c.184A>G (p.Met62Val) rs373738626 0.00002
NM_000191.3(HMGCL):c.208G>C (p.Val70Leu) rs121964996 0.00002
NM_000191.3(HMGCL):c.27del (p.Arg10fs) rs1409716731 0.00002
NM_000191.3(HMGCL):c.583A>G (p.Met195Val) rs764360500 0.00002
NM_000191.3(HMGCL):c.733A>T (p.Thr245Ser) rs764926275 0.00002
NM_000191.3(HMGCL):c.734C>T (p.Thr245Ile) rs761468576 0.00002
NM_000275.3(OCA2):c.216C>G (p.Leu72=) rs766072141 0.00002
NM_000277.3(PAH):c.1065+39G>T rs62510582 0.00002
NM_000277.3(PAH):c.1218A>G (p.Ile406Met) rs773526027 0.00002
NM_000372.5(TYR):c.1037-1G>A rs61754382 0.00002
NM_000372.5(TYR):c.1037-2A>G rs748901196 0.00002
NM_000372.5(TYR):c.265T>C (p.Cys89Arg) rs28940877 0.00002
NM_000531.6(OTC):c.76C>T (p.Arg26Trp) rs1057515879 0.00002
NM_000709.4(BCKDHA):c.288+1G>A rs398123496 0.00002
NM_000709.4(BCKDHA):c.659C>T (p.Ala220Val) rs375785084 0.00002
NM_000709.4(BCKDHA):c.889C>T (p.Arg297Cys) rs145901144 0.00002
NM_001875.5(CPS1):c.2026G>A (p.Glu676Lys) rs753441052 0.00002
NM_001918.5(DBT):c.401C>T (p.Pro134Leu) rs1131691488 0.00002
NM_003060.4(SLC22A5):c.1185A>G (p.Gln395=) rs916795176 0.00002
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp) rs267607054 0.00002
NM_003060.4(SLC22A5):c.1196G>A (p.Arg399Gln) rs121908891 0.00002
NM_003060.4(SLC22A5):c.1199G>A (p.Arg400His) rs371219688 0.00002
NM_003060.4(SLC22A5):c.522C>T (p.Phe174=) rs145350949 0.00002
NM_003060.4(SLC22A5):c.845G>A (p.Arg282Gln) rs386134210 0.00002
NM_003060.4(SLC22A5):c.865C>T (p.Arg289Ter) rs386134212 0.00002
NM_006623.4(PHGDH):c.1096G>T (p.Ala366Ser) rs138515760 0.00002
NM_006623.4(PHGDH):c.1129G>A (p.Gly377Ser) rs267606948 0.00002
NM_006623.4(PHGDH):c.1285G>C (p.Gly429Arg) rs145854744 0.00002
NM_006623.4(PHGDH):c.1406G>A (p.Arg469Gln) rs139764141 0.00002
NM_006623.4(PHGDH):c.400G>A (p.Glu134Lys) rs139129607 0.00002
NM_015506.3(MMACHC):c.-123A>T rs539415170 0.00002
NM_015506.3(MMACHC):c.276G>T (p.Glu92Asp) rs556977618 0.00002
NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter) rs757325789 0.00002
NM_015506.3(MMACHC):c.574C>T (p.Leu192=) rs762919217 0.00002
NM_015506.3(MMACHC):c.606T>C (p.Asp202=) rs748881103 0.00002
NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter) rs398124295 0.00002
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter) rs587776889 0.00002
NM_015506.3(MMACHC):c.683C>T (p.Ala228Val) rs201269886 0.00002
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln) rs765822392 0.00002
NM_015506.3(MMACHC):c.840del (p.Gly281fs) rs757384010 0.00002
NM_020166.5(MCCC1):c.695G>A (p.Arg232Gln) rs148088842 0.00002
NM_183050.4(BCKDHB):c.1016C>T (p.Ser339Leu) rs398124561 0.00002
NM_183050.4(BCKDHB):c.1087T>A (p.Tyr363Asn) rs398124565 0.00002
NM_183050.4(BCKDHB):c.732C>T (p.Tyr244=) rs537988425 0.00002
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly) rs387906950 0.00001
NM_000017.4(ACADS):c.107dup (p.Thr37fs) rs750941135 0.00001
NM_000017.4(ACADS):c.1130C>T (p.Pro377Leu) rs183161718 0.00001
NM_000017.4(ACADS):c.164C>T (p.Pro55Leu) rs147442301 0.00001
NM_000017.4(ACADS):c.1A>G (p.Met1Val) rs1291226969 0.00001
NM_000017.4(ACADS):c.326_328del (p.Cys109_Ala110delinsSer) rs1346829948 0.00001
NM_000017.4(ACADS):c.425C>G (p.Pro142Arg) rs148297461 0.00001
NM_000017.4(ACADS):c.449G>T (p.Gly150Val) rs1057524803 0.00001
NM_000017.4(ACADS):c.481A>G (p.Ser161Gly) rs755856935 0.00001
NM_000017.4(ACADS):c.596C>T (p.Ala199Val) rs766579880 0.00001
NM_000017.4(ACADS):c.820G>A (p.Gly274Ser) rs746368198 0.00001
NM_000018.4(ACADVL):c.1575C>A (p.Val525=) rs745996278 0.00001
NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu) rs750043368 0.00001
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser) rs545215807 0.00001
NM_000018.4(ACADVL):c.964G>A (p.Val322Met) rs1257648581 0.00001
NM_000071.3(CBS):c.395G>A (p.Arg132His) rs779011920 0.00001
NM_000108.5(DLD):c.419A>G (p.His140Arg) rs767210810 0.00001
NM_000108.5(DLD):c.65A>G (p.His22Arg) rs914629774 0.00001
NM_000137.4(FAH):c.1025C>T (p.Pro342Leu) rs779040832 0.00001
NM_000137.4(FAH):c.437A>G (p.Asn146Ser) rs754012972 0.00001
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter) rs770225915 0.00001
NM_000191.3(HMGCL):c.31C>T (p.Arg11Ter) rs1212444447 0.00001
NM_000191.3(HMGCL):c.345A>C (p.Ala115=) rs761706911 0.00001
NM_000191.3(HMGCL):c.532G>A (p.Gly178Arg) rs747529727 0.00001
NM_000191.3(HMGCL):c.593A>G (p.Tyr198Cys) rs1303119110 0.00001
NM_000191.3(HMGCL):c.602C>A (p.Ser201Tyr) rs760106433 0.00001
NM_000191.3(HMGCL):c.84T>C (p.Thr28=) rs752969194 0.00001
NM_000275.3(OCA2):c.1000G>A (p.Ala334Thr) rs1456118236 0.00001
NM_000275.3(OCA2):c.1322A>G (p.Asp441Gly) rs147816326 0.00001
NM_000275.3(OCA2):c.1326C>T (p.Asn442=) rs886051025 0.00001
NM_000275.3(OCA2):c.2201T>G (p.Leu734Arg) rs768934658 0.00001
NM_000277.3(PAH):c.505C>T (p.Arg169Cys) rs281865440 0.00001
NM_000277.3(PAH):c.781C>T (p.Arg261Ter) rs5030850 0.00001
NM_000277.3(PAH):c.786C>T (p.Val262=) rs776860902 0.00001
NM_000372.5(TYR):c.1036+1G>A rs763715899 0.00001
NM_000372.5(TYR):c.1036G>T (p.Gly346Ter) rs1013801316 0.00001
NM_000372.5(TYR):c.1111A>T (p.Asn371Tyr) rs61754386 0.00001
NM_000372.5(TYR):c.116G>A (p.Trp39Ter) rs775683960 0.00001
NM_000372.5(TYR):c.1209G>T (p.Arg403Ser) rs104894316 0.00001
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg) rs61754392 0.00001
NM_000372.5(TYR):c.1501dup (p.Arg501fs) rs281865328 0.00001
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr) rs28940879 0.00001
NM_000372.5(TYR):c.61C>T (p.Pro21Ser) rs61753178 0.00001
NM_000372.5(TYR):c.658C>T (p.Gln220Ter) rs797046083 0.00001
NM_000372.5(TYR):c.707G>A (p.Trp236Ter) rs61754367 0.00001
NM_000372.5(TYR):c.74dup (p.Ser26fs) rs1057518763 0.00001
NM_000372.5(TYR):c.880G>A (p.Glu294Lys) rs757754120 0.00001
NM_000531.6(OTC):c.374C>T (p.Thr125Met) rs72554356 0.00001
NM_000531.6(OTC):c.520G>A (p.Ala174Thr) rs72556281 0.00001
NM_000531.6(OTC):c.847G>C (p.Gly283Arg) rs2068530349 0.00001
NM_000531.6(OTC):c.896C>T (p.Thr299Ile) rs756772340 0.00001
NM_000709.4(BCKDHA):c.1036C>T (p.Arg346Cys) rs182923857 0.00001
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met) rs398123490 0.00001
NM_000709.4(BCKDHA):c.127C>T (p.Gln43Ter) rs374625613 0.00001
NM_000709.4(BCKDHA):c.249C>T (p.Asp83=) rs398123495 0.00001
NM_000709.4(BCKDHA):c.435C>T (p.Ala145=) rs369278165 0.00001
NM_000709.4(BCKDHA):c.632C>T (p.Thr211Met) rs398123503 0.00001
NM_000709.4(BCKDHA):c.647-1G>C rs753216964 0.00001
NM_000709.4(BCKDHA):c.793C>T (p.Arg265Trp) rs137852873 0.00001
NM_000709.4(BCKDHA):c.854-2A>G rs760494152 0.00001
NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg) rs137852871 0.00001
NM_000709.4(BCKDHA):c.940C>T (p.Arg314Ter) rs753698250 0.00001
NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys) rs398123515 0.00001
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala) rs200883871 0.00001
NM_000925.4(PDHB):c.45C>G (p.Val15=) rs747916943 0.00001
NM_000925.4(PDHB):c.582C>G (p.Asn194Lys) rs994015584 0.00001
NM_001876.4(CPT1A):c.1054C>T (p.Arg352Trp) rs376844032 0.00001
NM_001876.4(CPT1A):c.1244C>T (p.Ala415Val) rs528019785 0.00001
NM_001876.4(CPT1A):c.317G>A (p.Ser106Asn) rs766819782 0.00001
NM_001876.4(CPT1A):c.693+35T>A rs61887064 0.00001
NM_001918.5(DBT):c.1202T>C (p.Ile401Thr) rs1449113689 0.00001
NM_001918.5(DBT):c.1217G>T (p.Gly406Val) rs767154711 0.00001
NM_001918.5(DBT):c.1291C>T (p.Arg431Ter) rs398123660 0.00001
NM_001918.5(DBT):c.1400G>A (p.Trp467Ter) rs767760099 0.00001
NM_001918.5(DBT):c.1430T>G (p.Met477Arg) rs398123662 0.00001
NM_001918.5(DBT):c.198G>A (p.Gln66=) rs201714436 0.00001
NM_001918.5(DBT):c.206T>C (p.Leu69Pro) rs1663813561 0.00001
NM_001918.5(DBT):c.434-15_434-4del rs727503895 0.00001
NM_001918.5(DBT):c.5C>T (p.Ala2Val) rs398123672 0.00001
NM_001918.5(DBT):c.61C>T (p.Arg21Cys) rs398123673 0.00001
NM_001918.5(DBT):c.673A>C (p.Ile225Leu) rs1472099889 0.00001
NM_001918.5(DBT):c.836G>T (p.Cys279Phe) rs1662392597 0.00001
NM_001918.5(DBT):c.871C>T (p.Arg291Ter) rs398123675 0.00001
NM_001918.5(DBT):c.939G>C (p.Lys313Asn) rs398123676 0.00001
NM_003060.4(SLC22A5):c.1125C>T (p.Asn375=) rs202219455 0.00001
NM_003060.4(SLC22A5):c.118G>A (p.Val40Met) rs148657753 0.00001
NM_003060.4(SLC22A5):c.1202dup (p.Tyr401Ter) rs121908887 0.00001
NM_003060.4(SLC22A5):c.12C>G (p.Tyr4Ter) rs72552722 0.00001
NM_003060.4(SLC22A5):c.1340A>G (p.Tyr447Cys) rs386134218 0.00001
NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys) rs72552734 0.00001
NM_003060.4(SLC22A5):c.1364C>G (p.Pro455Arg) rs1408166345 0.00001
NM_003060.4(SLC22A5):c.137C>T (p.Pro46Leu) rs377767445 0.00001
NM_003060.4(SLC22A5):c.1409C>T (p.Ser470Phe) rs386134222 0.00001
NM_003060.4(SLC22A5):c.1411C>T (p.Arg471Cys) rs749282641 0.00001
NM_003060.4(SLC22A5):c.217G>C (p.Asp73His) rs778137386 0.00001
NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr) rs727504159 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.394-16T>A rs775097754 0.00001
NM_003060.4(SLC22A5):c.396G>A (p.Trp132Ter) rs72552727 0.00001
NM_003060.4(SLC22A5):c.428C>T (p.Pro143Leu) rs1178584184 0.00001
NM_003060.4(SLC22A5):c.455G>A (p.Gly152Asp) rs747821417 0.00001
NM_003060.4(SLC22A5):c.629A>G (p.Asn210Ser) rs386134198 0.00001
NM_003060.4(SLC22A5):c.632A>G (p.Tyr211Cys) rs121908888 0.00001
NM_003060.4(SLC22A5):c.637G>A (p.Ala213Thr) rs749602236 0.00001
NM_003060.4(SLC22A5):c.652+1G>A rs386134200 0.00001
NM_003060.4(SLC22A5):c.763G>A (p.Asp255Asn) rs774619135 0.00001
NM_003060.4(SLC22A5):c.77G>A (p.Ser26Asn) rs772578415 0.00001
NM_003060.4(SLC22A5):c.806del (p.Leu269fs) rs386134204 0.00001
NM_003060.4(SLC22A5):c.95A>G (p.Asn32Ser) rs72552725 0.00001
NM_004453.4(ETFDH):c.1175T>C (p.Met392Thr) rs1774520171 0.00001
NM_004453.4(ETFDH):c.1530C>T (p.Pro510=) rs754795292 0.00001
NM_005957.5(MTHFR):c.1033C>T (p.Arg345Cys) rs759031330 0.00001
NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter) rs769256568 0.00001
NM_006623.4(PHGDH):c.119A>G (p.Glu40Gly) rs778630047 0.00001
NM_006623.4(PHGDH):c.1209+4C>T rs199611972 0.00001
NM_006623.4(PHGDH):c.1534T>G (p.Ser512Ala) rs375098288 0.00001
NM_006623.4(PHGDH):c.357-1G>A rs766427173 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_014251.3(SLC25A13):c.185G>A (p.Ser62Asn) rs577901657 0.00001
NM_014251.3(SLC25A13):c.73G>A (p.Ala25Thr) rs759288496 0.00001
NM_015506.3(MMACHC):c.1A>G (p.Met1Val) rs758477536 0.00001
NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter) rs796051995 0.00001
NM_015506.3(MMACHC):c.222G>C (p.Met74Ile) rs772225967 0.00001
NM_015506.3(MMACHC):c.230A>G (p.Asp77Gly) rs1217366809 0.00001
NM_015506.3(MMACHC):c.292C>T (p.Gln98Ter) rs759188647 0.00001
NM_015506.3(MMACHC):c.334C>T (p.Arg112Cys) rs187869948 0.00001
NM_015506.3(MMACHC):c.384del (p.Tyr129fs) rs1347498294 0.00001
NM_015506.3(MMACHC):c.388T>C (p.Tyr130His) rs372670428 0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241 0.00001
NM_015506.3(MMACHC):c.398_399del (p.Gln133fs) rs746135357 0.00001
NM_015506.3(MMACHC):c.3G>A (p.Met1Ile) rs779893448 0.00001
NM_015506.3(MMACHC):c.403G>T (p.Val135Leu) rs886046368 0.00001
NM_015506.3(MMACHC):c.420G>A (p.Trp140Ter) rs796051996 0.00001
NM_015506.3(MMACHC):c.434T>C (p.Ile145Thr) rs759921519 0.00001
NM_015506.3(MMACHC):c.434dup (p.Ser146fs) rs768978351 0.00001
NM_015506.3(MMACHC):c.446G>A (p.Cys149Tyr) rs1161394470 0.00001
NM_015506.3(MMACHC):c.477C>T (p.Ala159=) rs747698015 0.00001
NM_015506.3(MMACHC):c.548T>C (p.Val183Ala) rs780926592 0.00001
NM_015506.3(MMACHC):c.567dup (p.Ile190fs) rs1463495909 0.00001
NM_015506.3(MMACHC):c.80A>G (p.Gln27Arg) rs546099787 0.00001
NM_020166.5(MCCC1):c.619G>A (p.Val207Ile) rs149268368 0.00001
NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter) rs751599203 0.00001
NM_183050.4(BCKDHB):c.302G>A (p.Gly101Asp) rs398124571 0.00001
NM_183050.4(BCKDHB):c.365C>T (p.Thr122Ile) rs398124575 0.00001
NM_183050.4(BCKDHB):c.410C>T (p.Ala137Val) rs776631396 0.00001
NM_183050.4(BCKDHB):c.506A>G (p.Tyr169Cys) rs398124580 0.00001
NM_183050.4(BCKDHB):c.526A>T (p.Asn176Tyr) rs398124582 0.00001
NM_183050.4(BCKDHB):c.633+1G>A rs398124589 0.00001
NM_183050.4(BCKDHB):c.752T>C (p.Val251Ala) rs398124593 0.00001
NM_183050.4(BCKDHB):c.799C>T (p.Gln267Ter) rs398124594 0.00001
NM_183050.4(BCKDHB):c.79_89del (p.Pro27fs) rs1057516795 0.00001
NM_183050.4(BCKDHB):c.854G>A (p.Arg285Gln) rs761827220 0.00001
NM_183050.4(BCKDHB):c.970C>T (p.Arg324Ter) rs398124603 0.00001
NM_000016.6(ACADM):c.-257G>A rs17848068
NM_000016.6(ACADM):c.1103T>C (p.Leu368Ser) rs2100453501
NM_000016.6(ACADM):c.118+60del rs796117827
NM_000016.6(ACADM):c.139G>A (p.Glu47Lys) rs2100362559
NM_000017.4(ACADS):c.1054G>A (p.Ala352Thr) rs202078273
NM_000017.4(ACADS):c.1153G>T (p.Ala385Ser) rs202124189
NM_000017.4(ACADS):c.328G>A (p.Ala110Thr) rs780571371
NM_000017.4(ACADS):c.461T>G (p.Leu154Arg) rs1057523592
NM_000017.4(ACADS):c.505A>C (p.Thr169Pro) rs777002501
NM_000017.4(ACADS):c.682_683del (p.Glu228fs) rs786204691
NM_000017.4(ACADS):c.910dup (p.Leu304fs) rs1057516606
NM_000018.4(ACADVL):c.1215C>T (p.Asp405=) rs2071338251
NM_000018.4(ACADVL):c.1881G>A (p.Gln627=) rs931018661
NM_000018.4(ACADVL):c.259G>A (p.Val87Met) rs2142965839
NM_000018.4(ACADVL):c.441del (p.Ser148fs) rs2142969688
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000018.4(ACADVL):c.956C>T (p.Ser319Leu) rs149467828
NM_000045.4(ARG1):c.802+76dup rs60712846
NM_000048.4(ASL):c.1063-57G>C rs1167406
NM_000048.4(ASL):c.1095C>T (p.Ser365=) rs749559501
NM_000048.4(ASL):c.231C>T (p.Gly77=) rs2115694497
NM_000048.4(ASL):c.426del (p.Met143fs) rs2115700686
NM_000048.4(ASL):c.530C>G (p.Ala177Gly) rs2115725413
NM_000048.4(ASL):c.978+30C>T rs160647
NM_000071.3(CBS):c.1195G>A (p.Glu399Lys) rs1485255027
NM_000071.3(CBS):c.753G>T (p.Leu251=) rs2146375662
NM_000108.5(DLD):c.542T>C (p.Ile181Thr) rs1291809324
NM_000137.4(FAH):c.1061C>T (p.Pro354Leu) rs143326948
NM_000137.4(FAH):c.314+49G>A rs1370273
NM_000137.4(FAH):c.615del (p.Phe205fs) rs1057517084
NM_000156.6(GAMT):c.391+47A>G rs73515058
NM_000170.3(GLDC):c.1738C>G (p.His580Asp) rs1164241828
NM_000170.3(GLDC):c.2203-63C>G rs2274874
NM_000170.3(GLDC):c.2316-6dup rs3215923
NM_000170.3(GLDC):c.2569+69C>A rs34948145
NM_000182.5(HADHA):c.252A>C (p.Gln84His) rs2147784410
NM_000191.3(HMGCL):c.-91G>T rs6697805
NM_000191.3(HMGCL):c.182A>G (p.Asp61Gly)
NM_000191.3(HMGCL):c.206_207del (p.Ser69fs) rs752137615
NM_000191.3(HMGCL):c.20C>G (p.Ala7Gly) rs754437215
NM_000191.3(HMGCL):c.20C>T (p.Ala7Val) rs754437215
NM_000191.3(HMGCL):c.230del (p.Val77fs) rs1638632303
NM_000191.3(HMGCL):c.254T>C (p.Met85Thr) rs886046314
NM_000191.3(HMGCL):c.286C>T (p.Gln96Ter) rs890995574
NM_000191.3(HMGCL):c.497+3G>A rs763178392
NM_000191.3(HMGCL):c.497G>T (p.Gly166Val) rs2148422419
NM_000191.3(HMGCL):c.505_506del (p.Ser169fs) rs764264834
NM_000191.3(HMGCL):c.562-2A>G rs1553131955
NM_000191.3(HMGCL):c.595G>C (p.Glu199Gln)
NM_000191.3(HMGCL):c.608G>A (p.Gly203Glu) rs1553131940
NM_000191.3(HMGCL):c.614C>G (p.Thr205Ser) rs1445870588
NM_000191.3(HMGCL):c.713A>G (p.Tyr238Cys)
NM_000191.3(HMGCL):c.795C>G (p.Gly265=) rs1488079271
NM_000191.3(HMGCL):c.876+1G>C rs779802353
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs) rs786205431
NM_000195.5(HPS1):c.1472C>G (p.Pro491Arg) rs2296434
NM_000195.5(HPS1):c.847G>T (p.Gly283Trp) rs11592273
NM_000195.5(HPS1):c.972del (p.Met325fs) rs281865082
NM_000254.3(MTR):c.2474-18del rs150727404
NM_000273.3(GPR143):c.767+10C>G rs3788938
NM_000274.4(OAT):c.799A>G (p.Thr267Ala) rs2134456603
NM_000275.3(OCA2):c.1860G>C (p.Gly620=) rs2140619474
NM_000275.3(OCA2):c.2177_2181del (p.Val726fs) rs771620099
NM_000275.3(OCA2):c.2208G>T (p.Ser736=) rs1800418
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del) rs767489236
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal) rs797044784
NM_000277.3(PAH):c.1089G>C (p.Lys363Asn) rs63329263
NM_000277.3(PAH):c.1339G>A (p.Ala447Thr) rs1192400891
NM_000277.3(PAH):c.305T>C (p.Ile102Thr) rs62508591
NM_000277.3(PAH):c.529G>A (p.Val177Met) rs199475602
NM_000277.3(PAH):c.620A>G (p.Asn207Ser) rs62508721
NM_000277.3(PAH):c.931_932del (p.Leu311fs) rs281865430
NM_000289.6(PFKM):c.1255G>A (p.Val419Ile) rs1266995508
NM_000289.6(PFKM):c.2108A>T (p.Asn703Ile) rs1950938419
NM_000360.4(TH):c.1002del (p.His335fs) rs2133692304
NM_000360.4(TH):c.1048-110A>C rs4072823
NM_000360.4(TH):c.696-138G>A rs7925784
NM_000372.5(TYR):c.1185-2A>G rs1289685376
NM_000372.5(TYR):c.1234C>G (p.Pro412Ala) rs797046081
NM_000372.5(TYR):c.125A>G (p.Asp42Gly) rs28940878
NM_000372.5(TYR):c.1267del (p.Glu423fs) rs1565423674
NM_000372.5(TYR):c.1275C>G (p.Tyr425Ter) rs1590902378
NM_000372.5(TYR):c.1342G>A (p.Asp448Asn) rs104894318
NM_000372.5(TYR):c.1456del (p.Ala486fs) rs1590909462
NM_000372.5(TYR):c.286dup (p.Met96fs) rs61753190
NM_000372.5(TYR):c.338_339del (p.Thr113fs) rs61753254
NM_000372.5(TYR):c.387_389delinsGG (p.Glu130fs) rs1565386582
NM_000372.5(TYR):c.391_393del (p.Lys131del) rs1413017181
NM_000372.5(TYR):c.572del (p.Gly191fs) rs61754361
NM_000372.5(TYR):c.616G>A (p.Ala206Thr) rs28940880
NM_000372.5(TYR):c.655G>A (p.Glu219Lys) rs747995722
NM_000372.5(TYR):c.661G>A (p.Glu221Lys) rs758115945
NM_000372.5(TYR):c.714G>A (p.Trp238Ter) rs1565386964
NM_000372.5(TYR):c.732_733del (p.Cys244_Asp245delinsTer) rs61754368
NM_000372.5(TYR):c.753C>A (p.Tyr251Ter) rs765329261
NM_000372.5(TYR):c.757G>A (p.Gly253Arg) rs61754369
NM_000372.5(TYR):c.820-3C>G rs61754371
NM_000372.5(TYR):c.895C>A (p.Arg299Ser) rs61754374
NM_000372.5(TYR):c.929dup (p.Arg311fs) rs281865527
NM_000372.5(TYR):c.976C>T (p.Gln326Ter) rs540911439
NM_000372.5(TYR):c.982G>A (p.Glu328Lys) rs61754380
NM_000531.6(OTC):c.1019C>T (p.Ser340Phe) rs1569282905
NM_000531.6(OTC):c.116G>A (p.Gly39Asp) rs1602014500
NM_000531.6(OTC):c.119G>A (p.Arg40His) rs72554308
NM_000531.6(OTC):c.205C>T (p.Gln69Ter) rs72554326
NM_000531.6(OTC):c.275G>A (p.Arg92Gln) rs66550389
NM_000531.6(OTC):c.298+2T>G rs1555972538
NM_000531.6(OTC):c.386G>A (p.Arg129His) rs66656800
NM_000531.6(OTC):c.422G>A (p.Arg141Gln) rs68026851
NM_000531.6(OTC):c.482A>G (p.Asn161Ser) rs72556271
NM_000531.6(OTC):c.533C>T (p.Thr178Met) rs72556284
NM_000531.6(OTC):c.583G>A (p.Gly195Arg) rs67294955
NM_000531.6(OTC):c.596A>G (p.Asn199Ser) rs72558406
NM_000531.6(OTC):c.608C>T (p.Ser203Phe) rs72558410
NM_000531.6(OTC):c.622G>A (p.Ala208Thr) rs72558416
NM_000531.6(OTC):c.626C>T (p.Ala209Val) rs72558417
NM_000531.6(OTC):c.663+1G>T rs68170503
NM_000531.6(OTC):c.674C>T (p.Pro225Leu) rs67120076
NM_000531.6(OTC):c.77G>A (p.Arg26Gln) rs68031618
NM_000531.6(OTC):c.829C>T (p.Arg277Trp) rs72558454
NM_000531.6(OTC):c.830G>A (p.Arg277Gln) rs66724222
NM_000531.6(OTC):c.919A>G (p.Lys307Glu) rs796052013
NM_000531.6(OTC):c.944T>A (p.Val315Asp) rs67414444
NM_000531.6(OTC):c.958C>T (p.Arg320Ter) rs72558473
NM_000545.8(HNF1A):c.1309+86TCAT[6] rs58371019
NM_000550.3(TYRP1):c.1261+20C>T rs2733832
NM_000709.4(BCKDHA):c.1008_1015del (p.His336fs) rs1330793674
NM_000709.4(BCKDHA):c.1074C>A (p.Asp358Glu) rs2122146497
NM_000709.4(BCKDHA):c.1115del (p.Gly372fs) rs2122146680
NM_000709.4(BCKDHA):c.1119G>A (p.Trp373Ter) rs765543886
NM_000709.4(BCKDHA):c.117del (p.Arg40fs) rs398123489
NM_000709.4(BCKDHA):c.117dup (p.Arg40fs) rs398123489
NM_000709.4(BCKDHA):c.1198A>T (p.Lys400Ter) rs863225262
NM_000709.4(BCKDHA):c.1280_1282del (p.Leu427_Ala428delinsPro) rs755691417
NM_000709.4(BCKDHA):c.143del (p.Leu48fs) rs1555765593
NM_000709.4(BCKDHA):c.347A>G (p.Asp116Gly) rs398123498
NM_000709.4(BCKDHA):c.511del (p.Leu171fs) rs762084007
NM_000709.4(BCKDHA):c.586G>A (p.Gly196Ser) rs1191782907
NM_000709.4(BCKDHA):c.691G>T (p.Val231Phe) rs2122142932
NM_000709.4(BCKDHA):c.718del (p.Ala240fs) rs1555766993
NM_000709.4(BCKDHA):c.761C>A (p.Ala254Asp) rs373713279
NM_000709.4(BCKDHA):c.859C>T (p.Arg287Ter) rs764247545
NM_000709.4(BCKDHA):c.861_868del (p.Gly288fs) rs794727847
NM_000709.4(BCKDHA):c.905A>C (p.Asp302Ala) rs398123509
NM_000709.4(BCKDHA):c.995+8C>T rs886054462
NM_000709.4(BCKDHA):c.996-33dup rs3217385
NM_000925.4(PDHB):c.836T>C (p.Ile279Thr) rs1392622459
NM_001032386.2(SUOX):c.1281G>C (p.Ser427=) rs773115
NM_001352514.2(HLCS):c.1414G>C (p.Gly472Arg) rs748444836
NM_001352514.2(HLCS):c.1960+117A>T rs2835455
NM_001352514.2(HLCS):c.2450+136C>T rs9977769
NM_001352514.2(HLCS):c.2529G>A (p.Gln843=) rs767700692
NM_001354735.1(PFKM):c.53G>T (p.Arg18Leu) rs193298317
NM_001358263.1(HK1):c.75+23T>C rs4746837
NM_001370658.1(BTD):c.1135A>T (p.Met379Leu) rs1295528438
NM_001370658.1(BTD):c.195C>T (p.Leu65=) rs2125454784
NM_001370658.1(BTD):c.256C>T (p.Gln86Ter) rs1553653062
NM_001370658.1(BTD):c.333del (p.Phe111fs) rs397514356
NM_001370658.1(BTD):c.498C>G (p.Cys166Trp) rs2125500615
NM_001382347.1(MYO5A):c.3858+12dup rs11386962
NM_001875.5(CPS1):c.-4_-3insTTC rs61509952
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala) rs1047883
NM_001875.5(CPS1):c.2200T>A (p.Leu734Met) rs1297131870
NM_001875.5(CPS1):c.2474C>T (p.Pro825Leu) rs1376614988
NM_001875.5(CPS1):c.3928-8del rs397703682
NM_001876.4(CPT1A):c.1018G>A (p.Gly340Arg) rs2153998408
NM_001876.4(CPT1A):c.1960G>A (p.Asp654Asn) rs1417413074
NM_001876.4(CPT1A):c.693+34dup rs753779449
NM_001876.4(CPT1A):c.693+36T>G rs61887063
NM_001876.4(CPT1A):c.693+37T>C rs61887062
NM_001918.5(DBT):c.*2633AAAT[7] rs773873766
NM_001918.5(DBT):c.1126C>T (p.Arg376Cys) rs768389398
NM_001918.5(DBT):c.1165_1166del (p.Thr388_Thr389insTer) rs1553229661
NM_001918.5(DBT):c.1210-10del rs398123658
NM_001918.5(DBT):c.1210-4del rs201117345
NM_001918.5(DBT):c.1219A>G (p.Thr407Ala)
NM_001918.5(DBT):c.126T>G (p.Tyr42Ter) rs794727262
NM_001918.5(DBT):c.1282-14_1282-10del rs752915898
NM_001918.5(DBT):c.1282-14_1282-9del rs760164623
NM_001918.5(DBT):c.1348G>A (p.Ala450Thr) rs398123661
NM_001918.5(DBT):c.1385G>C (p.Arg462Pro) rs750594890
NM_001918.5(DBT):c.165AAC[1] (p.Thr57del) rs771945254
NM_001918.5(DBT):c.251+19dup rs201469612
NM_001918.5(DBT):c.363_364del (p.Tyr122fs) rs753574354
NM_001918.5(DBT):c.442G>T (p.Glu148Ter) rs1570820579
NM_001918.5(DBT):c.449TTG[1] (p.Val151del) rs773087765
NM_001918.5(DBT):c.451G>A (p.Val151Ile) rs1282153768
NM_001918.5(DBT):c.51+1G>T rs398123669
NM_001918.5(DBT):c.512C>T (p.Thr171Ile)
NM_001918.5(DBT):c.577G>A (p.Gly193Ser) rs398123671
NM_001918.5(DBT):c.634C>T (p.Gln212Ter) rs1553230841
NM_001918.5(DBT):c.6T>A (p.Ala2=) rs1240475402
NM_001918.5(DBT):c.820C>A (p.Pro274Thr) rs1310427311
NM_001918.5(DBT):c.82_84dup (p.Asn28dup) rs746916491
NM_001918.5(DBT):c.872G>T (p.Arg291Leu) rs775808731
NM_002454.3(MTRR):c.1875G>A (p.Val625=) rs12347
NM_002454.3(MTRR):c.904-20dup rs11398509
NM_003060.4(SLC22A5):c.*92del rs142209594
NM_003060.4(SLC22A5):c.-25C>T rs886059907
NM_003060.4(SLC22A5):c.1052+5G>A rs927950152
NM_003060.4(SLC22A5):c.1078_1083dup (p.Gly360_Leu361dup) rs896634334
NM_003060.4(SLC22A5):c.1084del (p.Ser362fs) rs1580892239
NM_003060.4(SLC22A5):c.1085C>T (p.Ser362Leu) rs886042092
NM_003060.4(SLC22A5):c.1175TGC[2] (p.Leu394del) rs386134215
NM_003060.4(SLC22A5):c.1225C>G (p.Leu409Val) rs573330330
NM_003060.4(SLC22A5):c.1234A>C (p.Ser412Arg) rs1057518364
NM_003060.4(SLC22A5):c.1252C>T (p.Gln418Ter) rs1057518297
NM_003060.4(SLC22A5):c.1324_1325delinsAT (p.Ala442Ile) rs267607053
NM_003060.4(SLC22A5):c.1403C>G (p.Thr468Arg) rs386134221
NM_003060.4(SLC22A5):c.1412G>A (p.Arg471His) rs386134223
NM_003060.4(SLC22A5):c.148del (p.Cys50fs) rs386134227
NM_003060.4(SLC22A5):c.1554del (p.Asp519fs) rs1554088578
NM_003060.4(SLC22A5):c.1556_1559dup (p.Ile521fs) rs386134225
NM_003060.4(SLC22A5):c.1595_1604dup (p.Pro536fs) rs796052040
NM_003060.4(SLC22A5):c.160_166dup (p.Ala56fs) rs1057516797
NM_003060.4(SLC22A5):c.202C>T (p.Pro68Ser) rs1045644394
NM_003060.4(SLC22A5):c.232C>T (p.Pro78Ser) rs1485828747
NM_003060.4(SLC22A5):c.235del (p.His79fs) rs377767447
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu) rs72552726
NM_003060.4(SLC22A5):c.254_264dup (p.Ile89fs) rs377767449
NM_003060.4(SLC22A5):c.344A>G (p.Asp115Gly) rs386134192
NM_003060.4(SLC22A5):c.35G>A (p.Gly12Asp) rs886043206
NM_003060.4(SLC22A5):c.393+1G>A rs1057517069
NM_003060.4(SLC22A5):c.458_459del (p.Val153fs) rs386134195
NM_003060.4(SLC22A5):c.505C>T (p.Arg169Trp) rs121908890
NM_003060.4(SLC22A5):c.56G>C (p.Arg19Pro) rs72552723
NM_003060.4(SLC22A5):c.56_57delinsCT (p.Arg19Pro) rs1561560424
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val) rs386134199
NM_003060.4(SLC22A5):c.64TTC[1] (p.Phe23del) rs377767444
NM_003060.4(SLC22A5):c.652+6= rs4551059
NM_003060.4(SLC22A5):c.653-2A>C rs386134201
NM_003060.4(SLC22A5):c.693T>C (p.Ser231=) rs2126783662
NM_003060.4(SLC22A5):c.725G>T (p.Gly242Val) rs72552728
NM_003060.4(SLC22A5):c.760C>A (p.Arg254=) rs121908893
NM_003060.4(SLC22A5):c.760C>T (p.Arg254Ter) rs121908893
NM_003060.4(SLC22A5):c.791C>G (p.Thr264Arg) rs201262157
NM_003060.4(SLC22A5):c.83G>T (p.Ser28Ile) rs72552724
NM_003060.4(SLC22A5):c.844del (p.Arg282fs) rs386134209
NM_003664.5(AP3B1):c.280-6dup rs5868908
NM_003748.4(ALDH4A1):c.1461-109C>T rs6665917
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro) rs387907170
NM_004453.4(ETFDH):c.1360A>T (p.Ile454Leu) rs766776740
NM_004577.4(PSPH):c.-2C>G rs201445503
NM_004577.4(PSPH):c.-3G>A rs201958642
NM_004817.4(TJP2):c.1672-27del rs202100183
NM_006623.3(PHGDH):c.-101G>C rs562038
NM_006623.4(PHGDH):c.1078+1G>A rs1224279673
NM_006623.4(PHGDH):c.109A>G (p.Ser37Gly)
NM_006623.4(PHGDH):c.1117G>A (p.Ala373Thr) rs201553627
NM_006623.4(PHGDH):c.1394del (p.Leu465fs)
NM_006623.4(PHGDH):c.214G>A (p.Val72Met) rs958052810
NM_006623.4(PHGDH):c.290+2T>C rs886041874
NM_006623.4(PHGDH):c.2T>C (p.Met1Thr) rs951372478
NM_006623.4(PHGDH):c.391G>A (p.Gly131Ser)
NM_006623.4(PHGDH):c.40A>G (p.Ser14Gly) rs1448633854
NM_006623.4(PHGDH):c.412-1G>C rs1651455730
NM_006623.4(PHGDH):c.476A>G (p.Glu159Gly) rs756996899
NM_006623.4(PHGDH):c.743C>A (p.Ala248Asp) rs201782441
NM_006623.4(PHGDH):c.792+16C>T rs2101199027
NM_006623.4(PHGDH):c.87G>T (p.Gln29His)
NM_006623.4(PHGDH):c.901del (p.Val301fs) rs1571013274
NM_012463.4(ATP6V0A2):c.732-23T>C rs2271660
NM_014049.5(ACAD9):c.-65GT[4] rs397874507
NM_014049.5(ACAD9):c.1366A>G (p.Lys456Glu) rs2107662601
NM_014049.5(ACAD9):c.346+160G>C rs1680780
NM_014251.3(SLC25A13):c.1420G>A (p.Val474Met) rs554809009
NM_015506.3(MMACHC):c.*5C>G rs557994288
NM_015506.3(MMACHC):c.140C>A (p.Thr47Asn)
NM_015506.3(MMACHC):c.182G>A (p.Arg61Gln) rs201777449
NM_015506.3(MMACHC):c.182G>C (p.Arg61Pro) rs201777449
NM_015506.3(MMACHC):c.187del (p.Leu63fs) rs1343936481
NM_015506.3(MMACHC):c.259C>T (p.Leu87=) rs776402014
NM_015506.3(MMACHC):c.266G>A (p.Arg89His)
NM_015506.3(MMACHC):c.277-4C>A rs199889403
NM_015506.3(MMACHC):c.285dup (p.Glu96fs) rs1553162821
NM_015506.3(MMACHC):c.2T>C (p.Met1Thr) rs574983400
NM_015506.3(MMACHC):c.2T>G (p.Met1Arg) rs574983400
NM_015506.3(MMACHC):c.310_313del (p.Asp104fs) rs1311416761
NM_015506.3(MMACHC):c.327_329delinsATTGCTGACTAC (p.Asn110delinsLeuLeuThrThr) rs2149323547
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs) rs796052000
NM_015506.3(MMACHC):c.343A>G (p.Ile115Val)
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro) rs121918240
NM_015506.3(MMACHC):c.352del (p.Gln118fs) rs749264632
NM_015506.3(MMACHC):c.356C>G (p.Thr119Arg) rs1006520706
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del) rs796051998
NM_015506.3(MMACHC):c.395G>A (p.Arg132Gln) rs369335868
NM_015506.3(MMACHC):c.433A>G (p.Ile145Val) rs74365027
NM_015506.3(MMACHC):c.433A>T (p.Ile145Leu) rs74365027
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp) rs140522266
NM_015506.3(MMACHC):c.443_459delinsCTGGGGCTGG (p.Val148fs) rs2149323805
NM_015506.3(MMACHC):c.445_446del (p.Cys149fs) rs796051999
NM_015506.3(MMACHC):c.471G>A (p.Trp157Ter) rs1002571805
NM_015506.3(MMACHC):c.471G>C (p.Trp157Cys) rs1002571805
NM_015506.3(MMACHC):c.481C>G (p.Arg161Gly) rs370596113
NM_015506.3(MMACHC):c.497dup (p.Pro167fs) rs1481893137
NM_015506.3(MMACHC):c.500del (p.Pro167fs) rs1553162918
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs) rs1553162923
NM_015506.3(MMACHC):c.544T>C (p.Cys182Arg) rs955468279
NM_015506.3(MMACHC):c.545G>A (p.Cys182Tyr) rs372010149
NM_015506.3(MMACHC):c.547_548del (p.Val183fs) rs1305170860
NM_015506.3(MMACHC):c.553A>C (p.Thr185Pro)
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser) rs200895671
NM_015506.3(MMACHC):c.565del (p.Arg189fs) rs1257204721
NM_015506.3(MMACHC):c.572C>T (p.Ala191Val) rs375442063
NM_015506.3(MMACHC):c.578T>C (p.Leu193Pro) rs1233135084
NM_015506.3(MMACHC):c.602G>A (p.Arg201His)
NM_015506.3(MMACHC):c.615C>G (p.Tyr205Ter) rs747527726
NM_015506.3(MMACHC):c.615C>T (p.Tyr205=) rs747527726
NM_015506.3(MMACHC):c.619dup (p.Asp207fs) rs765913293
NM_015506.3(MMACHC):c.626T>A (p.Val209Glu)
NM_015506.3(MMACHC):c.626_627del (p.Val209fs) rs1356587420
NM_015506.3(MMACHC):c.626dup (p.Thr210fs) rs1570833527
NM_015506.3(MMACHC):c.631C>A (p.Pro211Thr)
NM_015506.3(MMACHC):c.649G>A (p.Glu217Lys) rs483352740
NM_015506.3(MMACHC):c.650A>G (p.Glu217Gly) rs199641732
NM_015506.3(MMACHC):c.651A>G (p.Glu217=) rs948189041
NM_015506.3(MMACHC):c.658_660del (p.Lys220del) rs398124296
NM_015506.3(MMACHC):c.701del (p.Leu234fs) rs767339897
NM_015506.3(MMACHC):c.729T>C (p.Pro243=) rs891106099
NM_015506.3(MMACHC):c.763C>G (p.Pro255Ala) rs533256855
NM_015506.3(MMACHC):c.763C>T (p.Pro255Ser) rs533256855
NM_015506.3(MMACHC):c.799dup (p.Arg267fs) rs1553163005
NM_015506.3(MMACHC):c.801G>A (p.Arg267=) rs751017212
NM_015506.3(MMACHC):c.81+2T>G rs777251123
NM_015506.3(MMACHC):c.82-11_82-8del rs751236442
NM_015506.3(MMACHC):c.82-1G>A rs1255179780
NM_015506.3(MMACHC):c.839del (p.Pro280fs) rs1553163017
NM_015506.3(MMACHC):c.844C>A (p.Pro282Thr) rs1553163019
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser) rs201025783
NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter) rs771673343
NM_015506.3:c.275_278del
NM_016335.6(PRODH):c.1105-14C>T rs1076466
NM_016335.6(PRODH):c.1515T>C (p.Phe505=) rs455072
NM_016335.6(PRODH):c.849+45del rs5844366
NM_018706.7(DHTKD1):c.1821C>G (p.Ile607Met) rs2062988
NM_020166.5(MCCC1):c.1315G>T (p.Val439Leu) rs398124352
NM_020166.5(MCCC1):c.231G>A (p.Ala77=) rs144230304
NM_020166.5(MCCC1):c.362C>T (p.Ala121Val) rs1367329678
NM_020166.5(MCCC1):c.453C>T (p.Gly151=) rs1716764203
NM_020166.5(MCCC1):c.503C>A (p.Ser168Tyr) rs2108526676
NM_020686.6(ABAT):c.1382-119GATG[6] rs3217123
NM_054012.4(ASS1):c.-5-172T>C rs1760275
NM_054012.4(ASS1):c.1018A>T (p.Lys340Ter) rs2118880170
NM_054012.4(ASS1):c.115G>C (p.Gly39Arg) rs2131869276
NM_054012.4(ASS1):c.323G>T (p.Arg108Leu) rs35269064
NM_054012.4(ASS1):c.439A>C (p.Met147Leu) rs2131882521
NM_054012.4(ASS1):c.495+84A>C rs11243414
NM_054012.4(ASS1):c.748C>T (p.Leu250Phe) rs772369785
NM_054012.4(ASS1):c.830_831del (p.Lys277fs) rs2118841816
NM_144639.3(UROC1):c.351+18C>T rs729456
NM_153006.3(NAGS):c.696T>A (p.His232Gln) rs1268332465
NM_183050.4(BCKDHB):c.*13G>A rs398124559
NM_183050.4(BCKDHB):c.-15C>T rs747088249
NM_183050.4(BCKDHB):c.1006G>A (p.Gly336Ser) rs398124560
NM_183050.4(BCKDHB):c.1022T>A (p.Ile341Asn) rs796051939
NM_183050.4(BCKDHB):c.1046G>A (p.Cys349Tyr) rs398124562
NM_183050.4(BCKDHB):c.1065del (p.Pro356fs) rs869312129
NM_183050.4(BCKDHB):c.1114G>T (p.Glu372Ter) rs386834234
NM_183050.4(BCKDHB):c.1144T>C (p.Cys382Arg) rs727503822
NM_183050.4(BCKDHB):c.1149T>A (p.Tyr383Ter) rs190867671
NM_183050.4(BCKDHB):c.193T>G (p.Tyr65Asp) rs1209549339
NM_183050.4(BCKDHB):c.25G>A (p.Gly9Ser) rs571728255
NM_183050.4(BCKDHB):c.275-2A>G rs1554184224
NM_183050.4(BCKDHB):c.293T>G (p.Val98Gly) rs869312126
NM_183050.4(BCKDHB):c.331C>T (p.Arg111Ter) rs371117671
NM_183050.4(BCKDHB):c.342T>G (p.Tyr114Ter) rs398124573
NM_183050.4(BCKDHB):c.348del (p.Asp117fs) rs1400121541
NM_183050.4(BCKDHB):c.368del (p.Pro123fs) rs1085307058
NM_183050.4(BCKDHB):c.403G>A (p.Gly135Arg) rs751953459
NM_183050.4(BCKDHB):c.410C>A (p.Ala137Glu) rs776631396
NM_183050.4(BCKDHB):c.487G>T (p.Glu163Ter) rs1057516799
NM_183050.4(BCKDHB):c.496A>T (p.Lys166Ter) rs1772735425
NM_183050.4(BCKDHB):c.508C>T (p.Arg170Cys) rs398124581
NM_183050.4(BCKDHB):c.509G>C (p.Arg170Pro) rs371518124
NM_183050.4(BCKDHB):c.51A>C (p.Ala17=) rs376293687
NM_183050.4(BCKDHB):c.51A>G (p.Ala17=) rs376293687
NM_183050.4(BCKDHB):c.595_596del (p.Ser199_Pro200insTer) rs398124587
NM_183050.4(BCKDHB):c.633+1G>T rs398124589
NM_183050.4(BCKDHB):c.748G>T (p.Glu250Ter) rs398124592
NM_183050.4(BCKDHB):c.840+2T>G rs398124596
NM_183050.4(BCKDHB):c.885del (p.Gly296fs) rs398124599
NM_183050.4(BCKDHB):c.93_103del (p.Ala32fs) rs398124601
NM_183050.4(BCKDHB):c.93_103dup (p.Phe35fs) rs398124601
NM_183050.4(BCKDHB):c.951+48C>T rs3749896
NM_183050.4(BCKDHB):c.988G>A (p.Glu330Lys) rs1224101411
NM_183050.4(BCKDHB):c.995C>T (p.Pro332Leu) rs1554205541

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