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
|
|