|
NM_000666.3(ACY1):c.575dup (p.Ser192fs)
|
rs770702363
|
0.00014
|
|
NM_000161.3(GCH1):c.610G>A (p.Val204Ile)
|
rs200891969
|
0.00009
|
|
NM_000187.4(HGD):c.365C>T (p.Ala122Val)
|
rs544956641
|
0.00006
|
|
NM_000320.3(QDPR):c.545+1G>A
|
rs761619802
|
0.00003
|
|
NM_001370658.1(BTD):c.535G>A (p.Val179Met)
|
rs397514375
|
0.00003
|
|
NM_000137.4(FAH):c.709C>T (p.Arg237Ter)
|
rs769550316
|
0.00002
|
|
NM_001739.2(CA5A):c.721G>A (p.Glu241Lys)
|
rs563971993
|
0.00002
|
|
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp)
|
rs267607054
|
0.00002
|
|
NM_183050.4(BCKDHB):c.1016C>T (p.Ser339Leu)
|
rs398124561
|
0.00002
|
|
NM_000159.4(GCDH):c.1156C>T (p.Arg386Ter)
|
rs752127949
|
0.00001
|
|
NM_000159.4(GCDH):c.647C>T (p.Ser216Leu)
|
rs1449724176
|
0.00001
|
|
NM_000532.5(PCCB):c.494G>A (p.Arg165Gln)
|
rs1304714042
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp)
|
rs118203984
|
0.00001
|
|
NM_001271.4(CHD2):c.5027G>A (p.Gly1676Glu)
|
rs150951454
|
0.00001
|
|
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)
|
rs121918241
|
0.00001
|
|
NM_000019.4(ACAT1):c.578T>G (p.Met193Arg)
|
rs541517496
|
|
|
NM_000045.4(ARG1):c.32T>C (p.Ile11Thr)
|
rs28941474
|
|
|
NM_000045.4(ARG1):c.428A>G (p.Gln143Arg)
|
rs754259099
|
|
|
NM_000048.4(ASL):c.478del (p.His160fs)
|
|
|
|
NM_000137.4(FAH):c.974C>T (p.Thr325Met)
|
rs770713168
|
|
|
NM_000159.4(GCDH):c.511G>C (p.Gly171Arg)
|
rs2145950047
|
|
|
NM_000159.4(GCDH):c.542_543del (p.Glu181fs)
|
rs2145950197
|
|
|
NM_000341.4(SLC3A1):c.1106_1129delinsCCCGGCAGG (p.Asp369_Arg377delinsAlaArgGlnGly)
|
|
|
|
NM_000709.4(BCKDHA):c.117dup (p.Arg40fs)
|
rs398123489
|
|
|
NM_001271.4(CHD2):c.4909C>T (p.Arg1637Ter)
|
rs864309547
|
|
|
NM_001739.2(CA5A):c.618+1G>T
|
|
|
|
NM_020166.5(MCCC1):c.570C>A (p.Cys190Ter)
|
rs537827975
|
|
|
NM_052845.4(MMAB):c.572G>C (p.Arg191Pro)
|
|
|