NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)
|
rs77931234
|
0.00363
|
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp)
|
rs141090143
|
0.00278
|
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr)
|
rs79389353
|
0.00238
|
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)
|
rs137852769
|
0.00182
|
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr)
|
rs121912691
|
0.00175
|
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn)
|
rs121434346
|
0.00168
|
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala)
|
rs113994167
|
0.00116
|
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)
|
rs398124292
|
0.00093
|
NM_000071.3(CBS):c.833T>C (p.Ile278Thr)
|
rs5742905
|
0.00083
|
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_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)
|
rs148660051
|
0.00056
|
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys)
|
rs61732144
|
0.00055
|
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser)
|
rs202088921
|
0.00052
|
NM_000016.6(ACADM):c.600-18G>A
|
rs370523609
|
0.00051
|
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)
|
rs61754388
|
0.00051
|
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)
|
rs5030853
|
0.00034
|
NM_000137.4(FAH):c.1062+5G>A
|
rs80338901
|
0.00028
|
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_001918.5(DBT):c.901C>T (p.Arg301Cys)
|
rs185492864
|
0.00025
|
NM_000026.4(ADSL):c.1277G>A (p.Arg426His)
|
rs119450941
|
0.00024
|
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)
|
rs104893851
|
0.00017
|
NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu)
|
rs147394623
|
0.00015
|
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)
|
rs121434274
|
0.00013
|
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys)
|
rs80338686
|
0.00011
|
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter)
|
rs121918242
|
0.00011
|
NM_000137.4(FAH):c.1069G>T (p.Glu357Ter)
|
rs121965075
|
0.00008
|
NM_001080.3(ALDH5A1):c.612G>A (p.Trp204Ter)
|
rs118203982
|
0.00007
|
NM_001142800.2(EYS):c.881C>G (p.Ser294Ter)
|
rs752683070
|
0.00007
|
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg)
|
rs119103212
|
0.00006
|
NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter)
|
rs727504020
|
0.00005
|
NM_001876.4(CPT1A):c.1163+1G>A
|
rs148059333
|
0.00005
|
NM_054012.4(ASS1):c.787G>A (p.Val263Met)
|
rs192838388
|
0.00005
|
NM_000048.4(ASL):c.578G>A (p.Arg193Gln)
|
rs373697663
|
0.00004
|
NM_052845.4(MMAB):c.700C>T (p.Gln234Ter)
|
rs369296618
|
0.00004
|
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met)
|
rs587777577
|
0.00004
|
NM_000283.4(PDE6B):c.299G>A (p.Arg100His)
|
rs555600300
|
0.00003
|
NM_001142800.2(EYS):c.3243+1G>A
|
rs1300490966
|
0.00003
|
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser)
|
rs151231558
|
0.00003
|
NM_000277.3(PAH):c.842+5G>A
|
rs62516146
|
0.00002
|
NM_000170.3(GLDC):c.128del (p.Asp43fs)
|
rs1251443902
|
0.00001
|
NM_000283.4(PDE6B):c.291C>A (p.Tyr97Ter)
|
rs876657718
|
0.00001
|
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter)
|
rs186031457
|
0.00001
|
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter)
|
rs797045089
|
0.00001
|
NM_002454.3(MTRR):c.340C>T (p.Arg114Ter)
|
rs754990692
|
0.00001
|
NM_032861.4(SERAC1):c.262_265dup (p.Gly89fs)
|
rs797045105
|
0.00001
|
NC_000023.10:g.(?_153640181)_(153641904_?)del
|
|
|
NM_000060.2(BTD):c.[511G>A;1330G>C]
|
|
|
NM_000116.5(TAFAZZIN):c.208C>T (p.Gln70Ter)
|
rs397515738
|
|
NM_000116.5(TAFAZZIN):c.307T>C (p.Cys103Arg)
|
rs397515740
|
|
NM_000116.5(TAFAZZIN):c.310T>C (p.Phe104Leu)
|
rs397515741
|
|
NM_000116.5(TAFAZZIN):c.328T>C (p.Ser110Pro)
|
rs397515739
|
|
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp)
|
rs727504327
|
|
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu)
|
rs397515746
|
|
NM_000116.5(TAFAZZIN):c.647G>T (p.Gly216Val)
|
rs727504431
|
|
NM_000116.5(TAFAZZIN):c.700-1G>A
|
rs397515747
|
|
NM_000116.5(TAFAZZIN):c.710_711del (p.Val237fs)
|
rs727504394
|
|
NM_000170.3(GLDC):c.2033_2035del (p.Ala678del)
|
rs769625871
|
|
NM_000255.4(MMUT):c.753+2T>A
|
rs796052006
|
|
NM_000277.3(PAH):c.691T>C (p.Ser231Pro)
|
rs5030845
|
|
NM_000283.4(PDE6B):c.2193+1G>A
|
rs727504075
|
|
NM_000320.3(QDPR):c.472C>T (p.His158Tyr)
|
rs750201480
|
|
NM_000341.4(SLC3A1):c.1750del (p.Arg584fs)
|
rs775827496
|
|
NM_000360.4(TH):c.283del (p.Ala95fs)
|
rs797045111
|
|
NM_000481.4(AMT):c.870G>A (p.Trp290Ter)
|
rs797045082
|
|
NM_000709.4(BCKDHA):c.511del (p.Leu171fs)
|
rs762084007
|
|
NM_001010867.4(IBA57):c.323A>C (p.Tyr108Ser)
|
rs781627051
|
|
NM_001142800.2(EYS):c.8678del (p.Asn2893fs)
|
rs1554163929
|
|
NM_001370658.1(BTD):c.-17+1G>A
|
rs1057516440
|
|
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe)
|
rs62625014
|
|
NM_003322.6(TULP1):c.855dup (p.Val286fs)
|
rs1554125752
|
|
NM_006017.3(PROM1):c.1177_1178del (p.Ile393fs)
|
rs746174328
|
|
NM_014270.5(SLC7A9):c.1399+4_1399+7del
|
rs747593886
|
|
NM_014270.5(SLC7A9):c.614dup (p.Asn206fs)
|
rs745319034
|
|
NM_014362.4(HIBCH):c.809+1G>A
|
rs143746450
|
|
NM_014362.4(HIBCH):c.852del (p.Leu284fs)
|
rs1131692017
|
|
NM_172250.3(MMAA):c.593_596del (p.Thr198fs)
|
rs796051993
|
|