NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)
|
rs1801133
|
0.27446
|
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)
|
rs77931234
|
0.00363
|
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)
|
rs137852769
|
0.00182
|
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala)
|
rs113994167
|
0.00116
|
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)
|
rs398124292
|
0.00093
|
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)
|
rs5030858
|
0.00092
|
NM_000071.3(CBS):c.833T>C (p.Ile278Thr)
|
rs5742905
|
0.00083
|
NM_002225.5(IVD):c.932C>T (p.Ala311Val)
|
rs28940889
|
0.00077
|
NM_000016.6(ACADM):c.199T>C (p.Tyr67His)
|
rs121434280
|
0.00073
|
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)
|
rs5030857
|
0.00057
|
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys)
|
rs61732144
|
0.00055
|
NM_000277.3(PAH):c.734T>C (p.Val245Ala)
|
rs76212747
|
0.00049
|
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)
|
rs80338685
|
0.00046
|
NM_000277.3(PAH):c.1315+1G>A
|
rs5030861
|
0.00040
|
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)
|
rs13073139
|
0.00039
|
NM_014249.4(NR2E3):c.119-2A>C
|
rs2723341
|
0.00038
|
NM_000048.4(ASL):c.532G>A (p.Val178Met)
|
rs28941473
|
0.00034
|
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)
|
rs5030853
|
0.00034
|
NM_000137.4(FAH):c.1062+5G>A
|
rs80338901
|
0.00028
|
NM_000277.3(PAH):c.1066-11G>A
|
rs5030855
|
0.00028
|
NM_000159.4(GCDH):c.1262C>T (p.Ala421Val)
|
rs121434367
|
0.00027
|
NM_000159.4(GCDH):c.680G>C (p.Arg227Pro)
|
rs121434373
|
0.00026
|
NM_000071.3(CBS):c.919G>A (p.Gly307Ser)
|
rs121964962
|
0.00025
|
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys)
|
rs5030860
|
0.00025
|
NM_000277.3(PAH):c.165T>G (p.Phe55Leu)
|
rs199475598
|
0.00023
|
NM_000277.3(PAH):c.143T>C (p.Leu48Ser)
|
rs5030841
|
0.00020
|
NM_000159.4(GCDH):c.1213A>G (p.Met405Val)
|
rs141437721
|
0.00018
|
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)
|
rs104893851
|
0.00017
|
NM_000108.5(DLD):c.685G>T (p.Gly229Cys)
|
rs121964990
|
0.00016
|
NM_001370658.1(BTD):c.410G>A (p.Arg137His)
|
rs146015592
|
0.00016
|
NM_000048.4(ASL):c.857A>G (p.Gln286Arg)
|
rs28941472
|
0.00015
|
NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu)
|
rs147394623
|
0.00015
|
NM_000360.4(TH):c.605G>A (p.Arg202His)
|
rs80338892
|
0.00014
|
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)
|
rs28941784
|
0.00014
|
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)
|
rs121434274
|
0.00013
|
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn)
|
rs62644499
|
0.00011
|
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys)
|
rs80338686
|
0.00011
|
NM_000137.4(FAH):c.554-1G>T
|
rs80338895
|
0.00010
|
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)
|
rs5030851
|
0.00010
|
NM_004937.3(CTNS):c.414G>A (p.Trp138Ter)
|
rs113994205
|
0.00010
|
NM_000137.4(FAH):c.786G>A (p.Trp262Ter)
|
rs80338899
|
0.00009
|
NM_000277.3(PAH):c.117C>G (p.Phe39Leu)
|
rs62642926
|
0.00009
|
NM_000277.3(PAH):c.838G>A (p.Glu280Lys)
|
rs62508698
|
0.00009
|
NM_000048.4(ASL):c.446+1G>A
|
rs142637046
|
0.00008
|
NM_000071.3(CBS):c.1224-2A>C
|
rs375846341
|
0.00008
|
NM_000137.4(FAH):c.1069G>T (p.Glu357Ter)
|
rs121965075
|
0.00008
|
NM_000277.3(PAH):c.473G>A (p.Arg158Gln)
|
rs5030843
|
0.00007
|
NM_000277.3(PAH):c.814G>T (p.Gly272Ter)
|
rs62514952
|
0.00006
|
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly)
|
rs28934601
|
0.00006
|
NM_003060.4(SLC22A5):c.51C>G (p.Phe17Leu)
|
rs11568520
|
0.00005
|
NM_000277.3(PAH):c.1223G>A (p.Arg408Gln)
|
rs5030859
|
0.00004
|
NM_001918.5(DBT):c.75_76del (p.Cys26fs)
|
rs768832921
|
0.00004
|
NM_000159.4(GCDH):c.1244-2A>C
|
rs199999619
|
0.00003
|
NM_000170.3(GLDC):c.2316-1G>A
|
rs386833554
|
0.00003
|
NM_000481.4(AMT):c.878-1G>A
|
rs181134220
|
0.00003
|
NM_052845.4(MMAB):c.291-1G>A
|
rs199971687
|
0.00003
|
NM_000048.4(ASL):c.447-1G>A
|
rs778254333
|
0.00002
|
NM_000709.4(BCKDHA):c.288+1G>A
|
rs398123496
|
0.00002
|
NM_000018.4(ACADVL):c.753-2A>C
|
rs398123092
|
0.00001
|
NM_000045.4(ARG1):c.466-1G>C
|
rs1064794165
|
0.00001
|
NM_000108.5(DLD):c.104dup (p.Tyr35Ter)
|
rs753234219
|
0.00001
|
NM_000137.4(FAH):c.192G>T (p.Gln64His)
|
rs80338894
|
0.00001
|
NM_000277.3(PAH):c.1012G>T (p.Asp338Tyr)
|
rs62516150
|
0.00001
|
NM_000277.3(PAH):c.441+1G>A
|
rs62517166
|
0.00001
|
NM_000277.3(PAH):c.912+1G>A
|
rs62514956
|
0.00001
|
NM_000709.4(BCKDHA):c.647-1G>C
|
rs753216964
|
0.00001
|
NM_052845.4(MMAB):c.197-1G>T
|
rs763935916
|
0.00001
|
NM_000018.4(ACADVL):c.1077+2T>C
|
rs1057516370
|
|
NM_000071.3(CBS):c.209+1G>A
|
rs751464024
|
|
NM_000277.3(PAH):c.1315+2T>C
|
rs1799970
|
|
NM_000277.3(PAH):c.722G>A (p.Arg241His)
|
rs62508730
|
|
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs)
|
rs397507445
|
|
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)
|
rs80338684
|
|
NM_001876.4(CPT1A):c.733C>T (p.Arg245Ter)
|
rs767241290
|
|
NM_003060.4(SLC22A5):c.760C>T (p.Arg254Ter)
|
rs121908893
|
|
NM_025136.4(OPA3):c.143-1G>C
|
rs80356523
|
|
NM_054012.4(ASS1):c.421-2A>G
|
rs751930594
|
|