NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg)
|
rs34885143
|
0.01036
|
NM_000170.3(GLDC):c.319A>G (p.Met107Val)
|
rs138454333
|
0.00707
|
NM_000170.3(GLDC):c.52G>T (p.Gly18Cys)
|
rs535143891
|
0.00670
|
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu)
|
rs41298432
|
0.00389
|
NM_000170.3(GLDC):c.2683A>G (p.Met895Val)
|
rs141152043
|
0.00200
|
NM_153006.3(NAGS):c.374C>A (p.Thr125Lys)
|
rs185863881
|
0.00187
|
NM_001698.3(AUH):c.381A>G (p.Ile127Met)
|
rs146227896
|
0.00125
|
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp)
|
rs200483477
|
0.00072
|
NM_003748.4(ALDH4A1):c.199G>A (p.Val67Met)
|
rs141327098
|
0.00070
|
NM_001608.4(ACADL):c.799C>T (p.Arg267Trp)
|
rs200297060
|
0.00044
|
NM_000045.4(ARG1):c.798A>C (p.Lys266Asn)
|
rs111253965
|
0.00041
|
NM_020166.5(MCCC1):c.1705A>T (p.Asn569Tyr)
|
rs148332041
|
0.00033
|
NM_000532.5(PCCB):c.180G>A (p.Lys60=)
|
rs140636870
|
0.00031
|
NM_005763.4(AASS):c.1048G>A (p.Val350Met)
|
rs780164559
|
0.00030
|
NM_015506.3(MMACHC):c.19G>A (p.Glu7Lys)
|
rs377405910
|
0.00030
|
NM_000161.3(GCH1):c.507G>A (p.Ala169=)
|
rs150158277
|
0.00029
|
NM_000255.4(MMUT):c.566A>G (p.Asn189Ser)
|
rs200908035
|
0.00028
|
NM_000666.3(ACY1):c.1100G>A (p.Arg367His)
|
rs201647575
|
0.00018
|
NM_001875.5(CPS1):c.3626T>C (p.Met1209Thr)
|
rs200569046
|
0.00018
|
NM_005957.5(MTHFR):c.1333C>T (p.Arg445Trp)
|
rs138469955
|
0.00009
|
NM_001003841.3(SLC6A19):c.1603C>T (p.Arg535Cys)
|
rs370093464
|
0.00006
|
NM_000709.4(BCKDHA):c.607G>A (p.Val203Ile)
|
rs988176395
|
0.00004
|
NM_014362.4(HIBCH):c.353T>C (p.Phe118Ser)
|
rs758938066
|
0.00002
|
NM_145199.3(LIPT1):c.539T>C (p.Leu180Ser)
|
rs1487643005
|
0.00002
|
NM_000666.3(ACY1):c.1000A>T (p.Met334Leu)
|
rs767883181
|
0.00001
|
NM_004813.4(PEX16):c.710T>G (p.Leu237Arg)
|
rs753577538
|
0.00001
|
NM_005050.4(ABCD4):c.1794G>C (p.Trp598Cys)
|
rs773609274
|
0.00001
|
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys)
|
rs121918329
|
0.00001
|
NM_014362.4(HIBCH):c.790C>T (p.His264Tyr)
|
rs1280144449
|
0.00001
|
NM_018706.7(DHTKD1):c.2740C>G (p.Leu914Val)
|
rs200646026
|
0.00001
|
NM_000045.4(ARG1):c.745G>C (p.Val249Leu)
|
rs182650447
|
|
NM_000170.3(GLDC):c.1357G>T (p.Ala453Ser)
|
rs1057515607
|
|
NM_000254.3(MTR):c.762C>T (p.Leu254=)
|
rs1661602756
|
|
NM_000255.4(MMUT):c.188C>T (p.Thr63Ile)
|
rs1767776360
|
|
NM_001003841.3(SLC6A19):c.712C>T (p.Leu238Phe)
|
rs901169831
|
|
NM_001608.4(ACADL):c.722G>C (p.Gly241Ala)
|
rs146511220
|
|
NM_001609.4(ACADSB):c.1128+3A>G
|
rs760423996
|
|
NM_001698.3(AUH):c.419G>A (p.Gly140Asp)
|
rs1829899485
|
|
NM_003060.4(SLC22A5):c.1537T>A (p.Phe513Ile)
|
rs1752785458
|
|
NM_005763.4(AASS):c.1876A>G (p.Ile626Val)
|
rs1793918338
|
|
NM_013247.5(HTRA2):c.739C>T (p.Arg247Cys)
|
rs763567914
|
|
NM_183050.4(BCKDHB):c.885del (p.Gly296fs)
|
rs398124599
|
|