|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
|
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)
|
rs150591260
|
0.00057
|
|
NM_000108.5(DLD):c.685G>T (p.Gly229Cys)
|
rs121964990
|
0.00016
|
|
NM_000666.3(ACY1):c.575dup (p.Ser192fs)
|
rs770702363
|
0.00014
|
|
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg)
|
rs144332569
|
0.00009
|
|
NM_000372.5(TYR):c.230G>A (p.Arg77Gln)
|
rs61753185
|
0.00006
|
|
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln)
|
rs121964997
|
0.00004
|
|
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys)
|
rs373715782
|
0.00001
|
|
NM_005957.5(MTHFR):c.680C>T (p.Thr227Met)
|
rs748571395
|
0.00001
|
|
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter)
|
rs1029096863
|
0.00001
|
|
NM_000018.4(ACADVL):c.65C>A (p.Ser22Ter)
|
rs727503788
|
|
|
NM_000048.4(ASL):c.1060C>T (p.Gln354Ter)
|
rs367543005
|
|
|
NM_000071.3(CBS):c.969G>A (p.Trp323Ter)
|
rs863223432
|
|
|
NM_000255.4(MMUT):c.329A>G (p.Tyr110Cys)
|
rs796052005
|
|
|
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp)
|
rs796052019
|
|
|
NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys)
|
rs121912691
|
|
|
NM_000532.5(PCCB):c.990dup (p.Glu331Ter)
|
rs786200983
|
|
|
NM_000709.4(BCKDHA):c.347A>G (p.Asp116Gly)
|
rs398123498
|
|
|
NM_000709.4(BCKDHA):c.905A>C (p.Asp302Ala)
|
rs398123509
|
|
|
NM_001029883.3(PCARE):c.1541del (p.Pro514fs)
|
rs1667513233
|
|
|
NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val)
|
rs794726860
|
|
|
NM_003322.6(TULP1):c.901C>T (p.Gln301Ter)
|
rs201070350
|
|
|
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)
|
|
|
|
NM_004975.4(KCNB1):c.1528G>T (p.Gly510Ter)
|
rs1601070652
|
|
|
NM_006269.2(RP1):c.3396G>A (p.Trp1132Ter)
|
rs561075447
|
|
|
NM_021800.3(DNAJC12):c.214C>T (p.Arg72Ter)
|
rs569240271
|
|
|
NM_032861.4(SERAC1):c.438del (p.Thr147fs)
|
rs1583595091
|
|
|
NM_054012.4(ASS1):c.380G>T (p.Arg127Leu)
|
rs201623252
|
|
|
NM_054012.4(ASS1):c.479T>C (p.Leu160Pro)
|
rs969835605
|
|
|
NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser)
|
rs730882246
|
|