NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg)
|
rs121908641
|
0.00025
|
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)
|
rs121434369
|
0.00019
|
NM_003124.5(SPR):c.262C>T (p.Arg88Trp)
|
rs564501639
|
0.00012
|
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met)
|
rs767890671
|
0.00011
|
NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser)
|
rs373771053
|
0.00002
|
NM_001698.3(AUH):c.505+1G>C
|
rs773652620
|
0.00002
|
NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter)
|
rs999844958
|
0.00002
|
NM_000045.4(ARG1):c.295G>A (p.Gly99Arg)
|
rs753829097
|
0.00001
|
NM_000191.3(HMGCL):c.494G>A (p.Arg165Gln)
|
rs199587895
|
0.00001
|
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter)
|
rs768703749
|
0.00001
|
NM_001142800.2(EYS):c.7868G>A (p.Gly2623Glu)
|
rs559824825
|
0.00001
|
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln)
|
rs387907119
|
0.00001
|
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser)
|
rs119103232
|
0.00001
|
NM_004483.5(GCSH):c.1A>G (p.Met1Val)
|
rs886039730
|
0.00001
|
NM_005957.5(MTHFR):c.202C>G (p.Arg68Gly)
|
rs763539350
|
0.00001
|
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys)
|
rs118204046
|
0.00001
|
NM_000019.4(ACAT1):c.238+2T>A
|
rs2135334862
|
|
NM_000019.4(ACAT1):c.731-2A>G
|
rs752216720
|
|
NM_000045.4(ARG1):c.547_549del (p.Asp183del)
|
rs2114545947
|
|
NM_000088.4(COL1A1):c.1877G>A (p.Gly626Asp)
|
rs2144563979
|
|
NM_000159.4(GCDH):c.150G>A (p.Trp50Ter)
|
rs1970564149
|
|
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln)
|
rs566417795
|
|
NM_000161.3(GCH1):c.644T>C (p.Met215Thr)
|
rs2140038918
|
|
NM_000187.4(HGD):c.175del (p.Ser59fs)
|
rs397515517
|
|
NM_000277.3(PAH):c.210del (p.Arg71fs)
|
rs2136701994
|
|
NM_000282.4(PCCA):c.1682T>G (p.Leu561Arg)
|
rs2152811823
|
|
NM_000709.4(BCKDHA):c.1312T>C (p.Tyr438His)
|
rs137852870
|
|
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)
|
rs1057520918
|
|
NM_001243279.3(ACSF3):c.1367-464C>T
|
rs2151560692
|
|
NM_001370658.1(BTD):c.1259T>C (p.Leu420Pro)
|
rs1575031012
|
|
NM_001370658.1(BTD):c.1279C>T (p.His427Tyr)
|
rs397514418
|
|
NM_001370658.1(BTD):c.424G>C (p.Ala142Pro)
|
rs2125500236
|
|
NM_001698.3(AUH):c.556G>T (p.Gly186Cys)
|
rs1040881767
|
|
NM_003038.5(SLC1A4):c.1280G>A (p.Gly427Glu)
|
|
|
NM_004113.6(FGF12):c.148G>A (p.Gly50Ser)
|
rs1553798675
|
|
NM_004113.6(FGF12):c.155G>A (p.Arg52His)
|
rs886039903
|
|
NM_004408.4(DNM1):c.1335+1638G>A
|
rs747079285
|
|
NM_005957.5(MTHFR):c.1657G>T (p.Glu553Ter)
|
rs2100499494
|
|
NM_005957.5(MTHFR):c.337G>T (p.Ala113Ser)
|
rs147257424
|
|
NM_014362.4(HIBCH):c.777T>A (p.Phe259Leu)
|
rs759563092
|
|
NM_016373.4(WWOX):c.172+5G>A
|
|
|
NM_025136.4(OPA3):c.142+5G>C
|
rs1250409781
|
|
NM_030940.4(ISCA1):c.259G>A (p.Glu87Lys)
|
rs776679653
|
|
NM_052845.4(MMAB):c.571C>G (p.Arg191Gly)
|
|
|
NM_052845.4(MMAB):c.580A>G (p.Arg194Gly)
|
rs2136198139
|
|
NM_177550.5(SLC13A5):c.659G>A (p.Gly220Asp)
|
rs2151493922
|
|