NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys)
|
rs121912698
|
0.00260
|
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)
|
rs150591260
|
0.00057
|
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
NM_000277.3(PAH):c.688G>A (p.Val230Ile)
|
rs62516152
|
0.00029
|
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu)
|
rs28941773
|
0.00020
|
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)
|
rs121434369
|
0.00019
|
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)
|
rs121434274
|
0.00013
|
NM_000709.4(BCKDHA):c.943C>T (p.Arg315Trp)
|
rs373336888
|
0.00009
|
NM_000071.3(CBS):c.1135C>T (p.Arg379Trp)
|
rs769080151
|
0.00003
|
NM_001330260.2(SCN8A):c.3267C>A (p.Asn1089Lys)
|
rs761386688
|
0.00002
|
NM_005957.5(MTHFR):c.1163G>A (p.Arg388His)
|
rs769953411
|
0.00002
|
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly)
|
rs387906950
|
0.00001
|
NM_000161.3(GCH1):c.274C>A (p.Leu92Ile)
|
rs763294577
|
0.00001
|
NM_001010867.4(IBA57):c.313C>T (p.Arg105Trp)
|
rs1298056442
|
0.00001
|
NM_006623.4(PHGDH):c.797C>T (p.Pro266Leu)
|
rs775936961
|
0.00001
|
NM_054012.4(ASS1):c.40G>A (p.Gly14Ser)
|
rs121908636
|
0.00001
|
NM_000071.3(CBS):c.434C>T (p.Pro145Leu)
|
rs121964963
|
|
NM_000159.4(GCDH):c.1205G>A (p.Arg402Gln)
|
rs786204626
|
|
NM_000255.4(MMUT):c.1207C>G (p.Arg403Gly)
|
rs727504020
|
|
NM_000255.4(MMUT):c.806C>T (p.Ala269Val)
|
rs767593892
|
|
NM_000277.3(PAH):c.1180G>C (p.Asp394His)
|
rs62516142
|
|
NM_000531.6(OTC):c.674C>T (p.Pro225Leu)
|
rs67120076
|
|
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)
|
rs794727411
|
|
NM_002225.5(IVD):c.158T>C (p.Met53Thr)
|
rs1890589984
|
|
NM_002225.5(IVD):c.599del (p.Pro200fs)
|
rs1566936542
|
|
NM_003060.4(SLC22A5):c.394-141T>C
|
rs1561566541
|
|
NM_003982.4(SLC7A7):c.149T>A (p.Met50Lys)
|
rs386833811
|
|
NM_005957.5(MTHFR):c.237G>T (p.Arg79Ser)
|
rs1553187509
|
|
NM_005957.5(MTHFR):c.379C>T (p.His127Tyr)
|
rs769381688
|
|
NM_006623.4(PHGDH):c.781G>A (p.Val261Met)
|
rs267606947
|
|
NM_014336.5(AIPL1):c.294del (p.Ile99fs)
|
rs1597331616
|
|
NM_172250.3(MMAA):c.664A>G (p.Arg222Gly)
|
rs920825350
|
|