NM_006623.3(PHGDH):c.*200A>G
|
rs17258425
|
0.11740
|
NM_005589.4(ALDH6A1):c.*433C>T
|
rs1135886
|
0.11114
|
NM_000709.3(BCKDHA):c.-34T>G
|
rs45500792
|
0.09943
|
NM_000709.4(BCKDHA):c.116C>A (p.Pro39His)
|
rs11549936
|
0.07892
|
NM_000156.6(GAMT):c.*276C>T
|
rs266810
|
0.07427
|
NM_000156.6(GAMT):c.*151T>C
|
rs659460
|
0.07383
|
NM_000156.6(GAMT):c.*311C>G
|
rs266811
|
0.06572
|
NM_004577.3(PSPH):c.-632C>T
|
rs34822782
|
0.03837
|
NM_003748.4(ALDH4A1):c.-4C>A
|
rs9426797
|
0.03554
|
NM_000277.3(PAH):c.707-7A>T
|
rs62508624
|
0.02868
|
NM_000277.2(PAH):c.-147C>T
|
rs62517177
|
0.02849
|
NM_005518.4(HMGCS2):c.*332A>C
|
rs56828380
|
0.02618
|
NM_000360.4(TH):c.1401C>T (p.Asp467=)
|
rs3842724
|
0.02616
|
NM_058179.4(PSAT1):c.*592A>C
|
rs115361057
|
0.02603
|
NM_003748.4(ALDH4A1):c.47C>T (p.Pro16Leu)
|
rs146450609
|
0.02500
|
NM_001918.5(DBT):c.*8983dup
|
rs67820832
|
0.02408
|
NM_000170.3(GLDC):c.-186del
|
rs140030144
|
0.02402
|
NM_000170.3(GLDC):c.671G>A (p.Arg224His)
|
rs28617412
|
0.02214
|
NM_003748.4(ALDH4A1):c.*35C>T
|
rs2230710
|
0.02193
|
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp)
|
rs11555096
|
0.02131
|
NM_003748.4(ALDH4A1):c.-7A>G
|
rs9426679
|
0.02115
|
NM_000156.6(GAMT):c.*11C>T
|
rs149268921
|
0.01866
|
NM_000071.3(CBS):c.*383C>T
|
rs73372352
|
0.01854
|
NM_000170.2(GLDC):c.*557C>G
|
rs73639311
|
0.01818
|
NM_003748.4(ALDH4A1):c.744C>T (p.Ile248=)
|
rs60427141
|
0.01815
|
NM_003748.4(ALDH4A1):c.603+14G>A
|
rs79637190
|
0.01743
|
NM_005589.4(ALDH6A1):c.349-13G>A
|
rs45510700
|
0.01704
|
NM_000187.4(HGD):c.1221G>A (p.Ala407=)
|
rs146206905
|
0.01639
|
NM_000277.3(PAH):c.963C>T (p.Leu321=)
|
rs61747292
|
0.01582
|
NM_000161.3(GCH1):c.*1463_*1464dup
|
rs55885280
|
0.01521
|
NM_005589.4(ALDH6A1):c.636G>A (p.Glu212=)
|
rs8008790
|
0.01439
|
NM_003748.4(ALDH4A1):c.1631C>T (p.Pro544Leu)
|
rs72953172
|
0.01344
|
NM_000207.3(INS):c.36G>A (p.Ala12=)
|
rs3842744
|
0.01335
|
NM_003748.4(ALDH4A1):c.1162T>C (p.Phe388Leu)
|
rs41273175
|
0.01334
|
NM_001918.5(DBT):c.*8607G>A
|
rs150241889
|
0.01296
|
NM_000360.4(TH):c.1278G>A (p.Thr426=)
|
rs36097848
|
0.01234
|
NM_000687.4(AHCY):c.112C>T (p.Arg38Trp)
|
rs13043752
|
0.01213
|
NM_001352514.2(HLCS):c.*1744G>A
|
rs117270429
|
0.01206
|
NM_003748.4(ALDH4A1):c.*903C>T
|
rs148846466
|
0.01203
|
NM_000071.3(CBS):c.304A>C (p.Lys102Gln)
|
rs34040148
|
0.01138
|
NM_005518.4(HMGCS2):c.*165C>T
|
rs138575225
|
0.01059
|
NM_000187.4(HGD):c.142G>T (p.Ala48Ser)
|
rs138846036
|
0.01021
|
NM_003748.4(ALDH4A1):c.584C>T (p.Thr195Met)
|
rs72936434
|
0.00992
|
NM_001080.3(ALDH5A1):c.*784C>T
|
rs115442722
|
0.00977
|
NM_000170.3(GLDC):c.*257G>A
|
rs111326356
|
0.00972
|
NM_003748.4(ALDH4A1):c.433G>A (p.Ala145Thr)
|
rs113846237
|
0.00952
|
NM_000207.3(INS):c.-9C>T
|
rs5505
|
0.00878
|
NM_001918.5(DBT):c.*8552A>T
|
rs543411196
|
0.00862
|
NM_000353.3(TAT):c.*813G>C
|
rs182924845
|
0.00777
|
NM_001352514.2(HLCS):c.*2624G>A
|
rs73210780
|
0.00769
|
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn)
|
rs61750442
|
0.00751
|
NM_000481.4(AMT):c.631G>A (p.Glu211Lys)
|
rs116192290
|
0.00735
|
NM_001080.3(ALDH5A1):c.*1239T>G
|
rs191960134
|
0.00705
|
NM_020686.6(ABAT):c.*1202G>A
|
rs75730008
|
0.00704
|
NM_001080.3(ALDH5A1):c.*1877A>G
|
rs41271787
|
0.00686
|
NM_000170.3(GLDC):c.52G>T (p.Gly18Cys)
|
rs535143891
|
0.00670
|
NM_000170.3(GLDC):c.2203G>T (p.Val735Leu)
|
rs143119940
|
0.00650
|
NM_000071.3(CBS):c.1145+7C>T
|
rs201158177
|
0.00620
|
NM_015702.3(MMADHC):c.473G>A (p.Arg158Gln)
|
rs114276563
|
0.00611
|
NM_004577.4(PSPH):c.-442A>G
|
rs184427284
|
0.00526
|
NM_001352514.2(HLCS):c.331-7157C>T
|
rs149104163
|
0.00524
|
NM_000137.4(FAH):c.315-14G>A
|
rs139830755
|
0.00521
|
NM_005589.4(ALDH6A1):c.*1904G>C
|
rs147392789
|
0.00503
|
NM_002860.4(ALDH18A1):c.2207-3C>T
|
rs149309642
|
0.00472
|
NM_000170.3(GLDC):c.1707+8G>A
|
rs144666843
|
0.00464
|
NM_020686.6(ABAT):c.*1075C>T
|
rs117516993
|
0.00462
|
NM_000108.5(DLD):c.543A>T (p.Ile181=)
|
rs61749952
|
0.00461
|
NM_000317.3(PTS):c.315-3T>C
|
rs189365250
|
0.00436
|
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr)
|
rs151268759
|
0.00419
|
NM_004577.4(PSPH):c.-456T>C
|
rs190216482
|
0.00411
|
NM_000687.4(AHCY):c.28+7C>T
|
rs201479827
|
0.00410
|
NM_000687.4(AHCY):c.367G>A (p.Gly123Arg)
|
rs41301825
|
0.00406
|
NM_012463.4(ATP6V0A2):c.*998T>C
|
rs12298446
|
0.00401
|
NM_001352514.2(HLCS):c.*1725A>G
|
rs73398120
|
0.00399
|
NM_001352514.2(HLCS):c.*3247A>G
|
rs114061673
|
0.00386
|
NM_000048.4(ASL):c.*218C>T
|
rs115226772
|
0.00375
|
NM_006623.4(PHGDH):c.*151C>G
|
rs112584109
|
0.00373
|
NM_000709.4(BCKDHA):c.975C>T (p.Leu325=)
|
rs55940366
|
0.00365
|
NM_000156.6(GAMT):c.*89C>A
|
rs558767159
|
0.00362
|
NM_005589.4(ALDH6A1):c.414A>G (p.Val138=)
|
rs4899491
|
0.00354
|
NM_001352514.2(HLCS):c.1002C>T (p.Ala334=)
|
rs116114362
|
0.00352
|
NM_001080.3(ALDH5A1):c.961G>A (p.Val321Met)
|
rs115784602
|
0.00349
|
NM_000170.3(GLDC):c.678C>T (p.His226=)
|
rs12006003
|
0.00338
|
NM_002860.4(ALDH18A1):c.*292C>T
|
rs78053774
|
0.00329
|
NM_001080.3(ALDH5A1):c.*1883C>T
|
rs139473699
|
0.00318
|
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys)
|
rs149736764
|
0.00315
|
NM_012463.4(ATP6V0A2):c.-117C>T
|
rs532360215
|
0.00315
|
NM_000481.4(AMT):c.1145G>A (p.Arg382Gln)
|
rs141246107
|
0.00299
|
NM_015702.3(MMADHC):c.-8C>T
|
rs180812156
|
0.00282
|
NM_006721.4(ADK):c.*740C>T
|
rs150465356
|
0.00276
|
NM_012463.4(ATP6V0A2):c.*785T>C
|
rs146660715
|
0.00262
|
NM_000170.3(GLDC):c.1331G>A (p.Cys444Tyr)
|
rs142099123
|
0.00261
|
NM_001352514.2(HLCS):c.*19C>T
|
rs137949852
|
0.00259
|
NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu)
|
rs138716143
|
0.00258
|
NM_001080.3(ALDH5A1):c.130C>G (p.Leu44Val)
|
rs185042766
|
0.00257
|
NM_058179.4(PSAT1):c.*865C>G
|
rs529821810
|
0.00257
|
NM_006721.4(ADK):c.66-24106T>C
|
rs192064997
|
0.00255
|
NM_183050.4(BCKDHB):c.*1798C>T
|
rs535334878
|
0.00251
|
NM_004577.4(PSPH):c.72G>C (p.Thr24=)
|
rs145408555
|
0.00245
|
NM_000108.5(DLD):c.507C>T (p.Gly169=)
|
rs144351432
|
0.00241
|
NM_000137.4(FAH):c.1259G>A (p.Ter420=)
|
rs61747586
|
0.00241
|
NM_000048.4(ASL):c.162C>T (p.Leu54=)
|
rs140221164
|
0.00238
|
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys)
|
rs144090917
|
0.00234
|
NM_001080.3(ALDH5A1):c.1348G>A (p.Asp450Asn)
|
rs144177566
|
0.00229
|
NM_005589.4(ALDH6A1):c.*1820G>A
|
rs111624130
|
0.00225
|
NM_020686.6(ABAT):c.641T>C (p.Met214Thr)
|
rs149271402
|
0.00219
|
NM_001080.3(ALDH5A1):c.480C>T (p.Ser160=)
|
rs143486700
|
0.00217
|
NM_000071.3(CBS):c.*34G>A
|
rs374464201
|
0.00214
|
NM_058179.4(PSAT1):c.367A>G (p.Ile123Val)
|
rs116577685
|
0.00213
|
NM_000687.4(AHCY):c.744C>T (p.Asn248=)
|
rs150175934
|
0.00210
|
NM_000108.5(DLD):c.*1640A>G
|
rs148148357
|
0.00209
|
NM_006721.4(ADK):c.*375A>G
|
rs185021662
|
0.00206
|
NM_000170.3(GLDC):c.2748G>A (p.Leu916=)
|
rs139982267
|
0.00203
|
NM_000170.3(GLDC):c.2683A>G (p.Met895Val)
|
rs141152043
|
0.00200
|
NM_020686.6(ABAT):c.30G>A (p.Leu10=)
|
rs34813662
|
0.00200
|
NM_001918.5(DBT):c.1418A>G (p.Asn473Ser)
|
rs75525811
|
0.00196
|
NM_001171993.2(HPD):c.-115+52A>G
|
rs199549271
|
0.00192
|
NM_000071.3(CBS):c.954+8G>A
|
rs76292057
|
0.00188
|
NM_000071.2(CBS):c.-160C>T
|
rs112271970
|
0.00185
|
NM_000170.3(GLDC):c.1927-9A>G
|
rs41281773
|
0.00180
|
NM_000187.4(HGD):c.129G>A (p.Gln43=)
|
rs142789485
|
0.00165
|
NM_000481.4(AMT):c.*130G>T
|
rs143731179
|
0.00149
|
NM_000156.6(GAMT):c.392-7C>T
|
rs192416474
|
0.00144
|
NM_004577.4(PSPH):c.146G>A (p.Arg49Gln)
|
rs144281276
|
0.00138
|
NM_000071.3(CBS):c.1359-14C>T
|
rs115185587
|
0.00137
|
NM_000170.3(GLDC):c.*229C>G
|
rs184498089
|
0.00135
|
NM_000709.4(BCKDHA):c.*334C>T
|
rs528816040
|
0.00133
|
NM_001080.3(ALDH5A1):c.*40T>C
|
rs146793715
|
0.00132
|
NM_000187.4(HGD):c.919C>T (p.Arg307Cys)
|
rs143556739
|
0.00124
|
NM_001080.3(ALDH5A1):c.*3190A>G
|
rs182106500
|
0.00117
|
NM_000481.4(AMT):c.*416C>T
|
rs571207015
|
0.00114
|
NM_006721.4(ADK):c.1088G>A (p.Ter363=)
|
rs148819558
|
0.00108
|
NM_000071.3(CBS):c.1643G>A (p.Arg548Gln)
|
rs150828989
|
0.00105
|
NM_000709.4(BCKDHA):c.15C>T (p.Ile5=)
|
rs17173144
|
0.00103
|
NM_000170.3(GLDC):c.*236G>T
|
rs537707294
|
0.00102
|
NM_000360.4(TH):c.-7C>T
|
rs199925956
|
0.00098
|
NM_032316.3(NICN1):c.*2307G>C
|
rs544461335
|
0.00097
|
NM_001080.3(ALDH5A1):c.13A>G (p.Ile5Val)
|
rs200398000
|
0.00096
|
NM_000277.3(PAH):c.158G>A (p.Arg53His)
|
rs118092776
|
0.00091
|
NM_000071.3(CBS):c.52C>T (p.Arg18Cys)
|
rs201827340
|
0.00086
|
NM_001080.3(ALDH5A1):c.293C>G (p.Ala98Gly)
|
rs535825137
|
0.00076
|
NM_001918.5(DBT):c.*4273C>A
|
rs12568926
|
0.00074
|
NM_000353.3(TAT):c.*682T>C
|
rs118086978
|
0.00070
|
NM_020686.6(ABAT):c.*2629G>A
|
rs186857840
|
0.00065
|
NM_020686.6(ABAT):c.267C>T (p.Asp89=)
|
rs199666932
|
0.00057
|
NM_001918.5(DBT):c.*5969C>T
|
rs141483625
|
0.00055
|
NM_000274.4(OAT):c.1311G>T (p.Leu437Phe)
|
rs1800456
|
0.00054
|
NM_000137.4(FAH):c.181G>T (p.Val61Phe)
|
rs151264725
|
0.00053
|
NM_183050.4(BCKDHB):c.*83C>T
|
rs564127416
|
0.00052
|
NM_001918.5(DBT):c.*7307G>C
|
rs182980145
|
0.00051
|
NM_002150.3(HPD):c.1005C>G (p.Ile335Met)
|
rs137852868
|
0.00051
|
NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser)
|
rs138607412
|
0.00051
|
NM_000161.3(GCH1):c.*20C>T
|
rs143111433
|
0.00049
|
NM_001918.5(DBT):c.1210-11T>A
|
rs751951997
|
0.00049
|
NM_000161.3(GCH1):c.206C>T (p.Pro69Leu)
|
rs56127440
|
0.00035
|
NM_002860.4(ALDH18A1):c.*734C>A
|
rs184009046
|
0.00035
|
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr)
|
rs143142641
|
0.00035
|
NM_000161.3(GCH1):c.*1479G>T
|
rs533240612
|
0.00034
|
NM_001918.5(DBT):c.*6716C>G
|
rs529415312
|
0.00033
|
NM_000161.3(GCH1):c.*1130C>G
|
rs543818323
|
0.00031
|
NM_006623.4(PHGDH):c.296C>G (p.Pro99Arg)
|
rs182600362
|
0.00030
|
NM_000320.3(QDPR):c.*103C>T
|
rs117036858
|
0.00029
|
NM_005589.4(ALDH6A1):c.*2491G>T
|
rs181822532
|
0.00029
|
NM_005589.4(ALDH6A1):c.*567C>T
|
rs75199385
|
0.00029
|
NM_000156.6(GAMT):c.279C>T (p.Asp93=)
|
rs144630886
|
0.00028
|
NM_000360.4(TH):c.627C>G (p.Ile209Met)
|
rs202149985
|
0.00027
|
NM_000108.5(DLD):c.*1736T>C
|
rs190655078
|
0.00025
|
NM_000281.4(PCBD1):c.*114G>A
|
rs562433724
|
0.00025
|
NM_001352514.2(HLCS):c.*1324T>C
|
rs141644229
|
0.00024
|
NM_001918.5(DBT):c.*7698C>T
|
rs185528579
|
0.00024
|
NM_000161.3(GCH1):c.69C>T (p.Pro23=)
|
rs767294964
|
0.00023
|
NM_001918.5(DBT):c.1210-8A>T
|
rs535837017
|
0.00023
|
NM_005589.4(ALDH6A1):c.97T>A (p.Phe33Ile)
|
rs182720934
|
0.00022
|
NM_020686.6(ABAT):c.*989T>C
|
rs533930699
|
0.00021
|
NM_000353.3(TAT):c.*863G>A
|
rs185984423
|
0.00020
|
NM_183050.4(BCKDHB):c.*2072C>T
|
rs183153737
|
0.00020
|
NM_183050.4(BCKDHB):c.63G>T (p.Gly21=)
|
rs368345065
|
0.00019
|
NM_183050.4(BCKDHB):c.987C>T (p.His329=)
|
rs138670449
|
0.00019
|
NM_000170.3(GLDC):c.1581-5C>T
|
rs184463452
|
0.00018
|
NM_001080.3(ALDH5A1):c.*1249T>A
|
rs149522807
|
0.00017
|
NM_018368.4(LMBRD1):c.1192T>C (p.Tyr398His)
|
rs185334169
|
0.00016
|
NM_000161.3(GCH1):c.*256A>G
|
rs181674470
|
0.00014
|
NM_000709.4(BCKDHA):c.*134C>T
|
rs150173947
|
0.00014
|
NM_001080.3(ALDH5A1):c.*1515C>T
|
rs368136060
|
0.00014
|
NM_001080.3(ALDH5A1):c.62G>A (p.Gly21Asp)
|
rs371923295
|
0.00014
|
NM_001918.5(DBT):c.747C>A (p.Gly249=)
|
rs200612682
|
0.00013
|
NM_006623.4(PHGDH):c.743C>T (p.Ala248Val)
|
rs201782441
|
0.00013
|
NM_058179.4(PSAT1):c.1008-11G>T
|
rs200199574
|
0.00013
|
NM_000137.4(FAH):c.715A>T (p.Ile239Phe)
|
rs144228661
|
0.00012
|
NM_000048.4(ASL):c.1278C>T (p.Cys426=)
|
rs140770112
|
0.00011
|
NM_000156.6(GAMT):c.242C>T (p.Ala81Val)
|
rs751099274
|
0.00009
|
NM_000161.2(GCH1):c.-169C>T
|
rs538405738
|
0.00009
|
NM_004577.4(PSPH):c.*317G>A
|
rs565399960
|
0.00009
|
NM_012463.4(ATP6V0A2):c.1698A>G (p.Gly566=)
|
rs2271659
|
0.00008
|
NM_000161.3(GCH1):c.297C>T (p.Ala99=)
|
rs776450369
|
0.00007
|
NM_000277.3(PAH):c.*144A>G
|
rs375319584
|
0.00007
|
NM_000709.4(BCKDHA):c.288+10G>A
|
rs376894084
|
0.00007
|
NM_018368.4(LMBRD1):c.636+14G>T
|
rs376670737
|
0.00007
|
NM_000687.4(AHCY):c.663T>C (p.Tyr221=)
|
rs58020044
|
0.00006
|
NM_012463.4(ATP6V0A2):c.*2485C>T
|
rs144043973
|
0.00006
|
NM_020686.6(ABAT):c.*2074A>C
|
rs191157077
|
0.00006
|
NM_000071.3(CBS):c.1494G>A (p.Arg498=)
|
rs778800147
|
0.00005
|
NM_000161.3(GCH1):c.543T>G (p.Val181=)
|
rs765670568
|
0.00005
|
NM_000108.5(DLD):c.*1876G>A
|
rs142001971
|
0.00004
|
NM_000187.4(HGD):c.1027A>C (p.Met343Leu)
|
rs755078457
|
0.00004
|
NM_001352514.2(HLCS):c.2583C>T (p.Phe861=)
|
rs532108774
|
0.00004
|
NM_020686.6(ABAT):c.*539C>T
|
rs548945558
|
0.00004
|
NM_001080.3(ALDH5A1):c.*1349A>G
|
rs542892289
|
0.00003
|
NM_002150.3(HPD):c.1108G>A (p.Ala370Thr)
|
rs142321451
|
0.00003
|
NM_000161.3(GCH1):c.195G>A (p.Glu65=)
|
rs139350456
|
0.00002
|
NM_000156.6(GAMT):c.*136C>A
|
rs566649324
|
0.00001
|
NM_000156.6(GAMT):c.182G>A (p.Gly61Glu)
|
rs77168423
|
0.00001
|
NM_000170.3(GLDC):c.63C>A (p.Arg21=)
|
rs372141443
|
0.00001
|
NM_000317.3(PTS):c.121G>A (p.Gly41Arg)
|
rs372852903
|
0.00001
|
NM_000353.3(TAT):c.*1056G>C
|
rs535439847
|
0.00001
|
NM_000360.4(TH):c.5C>T (p.Pro2Leu)
|
rs139474171
|
0.00001
|
NM_000709.4(BCKDHA):c.*324G>A
|
rs564517344
|
0.00001
|
NM_006721.4(ADK):c.66-24289G>A
|
rs571962706
|
0.00001
|
NM_012463.4(ATP6V0A2):c.*2085C>G
|
rs185883563
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2294-4G>A
|
rs551697992
|
0.00001
|
NM_020686.6(ABAT):c.*1311C>A
|
rs532670980
|
0.00001
|
NM_000048.4(ASL):c.531C>A (p.Ala177=)
|
rs201974677
|
|
NM_000048.4(ASL):c.656-5C>A
|
rs201814807
|
|
NM_000071.3(CBS):c.1358+15C>G
|
rs186497436
|
|
NM_000108.5(DLD):c.*470G>A
|
rs111619940
|
|
NM_000161.3(GCH1):c.*1122A>T
|
rs56126158
|
|
NM_000161.3(GCH1):c.*1176C>G
|
rs113211390
|
|
NM_000170.3(GLDC):c.1545G>A (p.Arg515=)
|
rs121964976
|
|
NM_000170.3(GLDC):c.2490G>T (p.Thr830=)
|
rs145407593
|
|
NM_000187.4(HGD):c.474G>T (p.Pro158=)
|
rs2293734
|
|
NM_000274.4(OAT):c.1138A>G (p.Ile380Val)
|
rs545710763
|
|
NM_000277.2(PAH):c.-224G>A
|
rs886048892
|
|
NM_000277.2(PAH):c.-460delG
|
rs113191080
|
|
NM_000320.3(QDPR):c.-24G>T
|
rs529698353
|
|
NM_000481.4(AMT):c.148G>T (p.Val50Leu)
|
rs148917929
|
|
NM_001080.3(ALDH5A1):c.*2778del
|
rs771652776
|
|
NM_001080.3(ALDH5A1):c.709G>T (p.Ala237Ser)
|
rs62621664
|
|
NM_001352514.2(HLCS):c.*1589CAAA[2]
|
rs201997019
|
|
NM_001352514.2(HLCS):c.1620+7del
|
rs140568778
|
|
NM_001354304.2(PAH):c.-95-385_-95-382del
|
rs147576673
|
|
NM_001482.3(GATM):c.*28C>T
|
rs570994409
|
|
NM_001918.5(DBT):c.*2619G>A
|
rs541064624
|
|
NM_001918.5(DBT):c.*2633AAAT[7]
|
rs773873766
|
|
NM_001918.5(DBT):c.*3869del
|
rs141830881
|
|
NM_002860.4(ALDH18A1):c.-120A>G
|
rs181772739
|
|
NM_003748.4(ALDH4A1):c.*657del
|
rs11311839
|
|
NM_003748.4(ALDH4A1):c.1086G>A (p.Pro362=)
|
rs41310410
|
|
NM_004577.4(PSPH):c.-19-13dup
|
rs368626187
|
|
NM_004577.4(PSPH):c.249A>C (p.Gln83His)
|
rs73343757
|
|
NM_005589.4(ALDH6A1):c.*309G>A
|
rs150950908
|
|
NM_005589.4(ALDH6A1):c.*599C>G
|
rs113031892
|
|
NM_005589.4(ALDH6A1):c.112-31GTTT[5]
|
rs370924173
|
|
NM_005589.4(ALDH6A1):c.853-11dup
|
rs528185481
|
|
NM_015702.3(MMADHC):c.-145A>G
|
rs12477482
|
|
NM_018368.4(LMBRD1):c.-88C>G
|
rs557851763
|
|
NM_020686.6(ABAT):c.*1765TTCA[2]
|
rs148513949
|
|
NM_020686.6(ABAT):c.*3039del
|
rs766850207
|
|
NM_020686.6(ABAT):c.*3110_*3113del
|
rs147433667
|
|
NM_183050.4(BCKDHB):c.*263C>A
|
rs533006469
|
|