NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)
|
rs1042602
|
0.24593
|
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)
|
rs1126809
|
0.18094
|
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)
|
rs121918166
|
0.00350
|
NM_053013.4(ENO3):c.115G>A (p.Ala39Thr)
|
rs141103742
|
0.00021
|
NM_000531.6(OTC):c.385C>T (p.Arg129Cys)
|
rs140046498
|
0.00013
|
NM_000360.4(TH):c.91-868C>T
|
rs148235227
|
0.00012
|
NM_018706.7(DHTKD1):c.718-5A>G
|
rs374421488
|
0.00007
|
NM_000360.4(TH):c.110G>A (p.Arg37His)
|
rs368122376
|
0.00005
|
NM_000531.6(OTC):c.1005+11A>T
|
rs375524303
|
0.00005
|
NM_000081.4(LYST):c.1390G>A (p.Glu464Lys)
|
rs374284011
|
0.00004
|
NM_000481.4(AMT):c.1082C>T (p.Ala361Val)
|
rs757293245
|
0.00003
|
NM_001876.4(CPT1A):c.1112C>T (p.Ser371Leu)
|
rs376430455
|
0.00003
|
NM_003597.5(KLF11):c.23G>A (p.Gly8Asp)
|
rs1553312826
|
0.00003
|
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met)
|
rs141322087
|
0.00002
|
NM_001807.6(CEL):c.341-2A>G
|
rs755075929
|
0.00002
|
NM_005957.5(MTHFR):c.1571C>A (p.Ala524Glu)
|
rs774934088
|
0.00002
|
NM_001498.4(GCLC):c.482A>G (p.Lys161Arg)
|
rs376535220
|
0.00001
|
NM_001876.4(CPT1A):c.421G>A (p.Gly141Ser)
|
rs1309112630
|
0.00001
|
NM_001931.5(DLAT):c.1399A>C (p.Ile467Leu)
|
rs1221769620
|
0.00001
|
NM_003124.5(SPR):c.610G>C (p.Asp204His)
|
rs1430511579
|
0.00001
|
NM_004483.5(GCSH):c.49C>T (p.Arg17Cys)
|
rs967101315
|
0.00001
|
NM_175914.5(HNF4A):c.341G>A (p.Arg114Gln)
|
rs149611886
|
0.00001
|
NM_000081.4(LYST):c.11038+11T>C
|
|
|
NM_000108.5(DLD):c.857A>G (p.Asp286Gly)
|
rs192349677
|
|
NM_000126.4(ETFA):c.379C>T (p.Leu127Phe)
|
rs910012804
|
|
NM_000284.4(PDHA1):c.1014_1034dup (p.Lys344_Glu345insAspAspValGluValArgLys)
|
rs2063244761
|
|
NM_000284.4(PDHA1):c.65G>C (p.Arg22Thr)
|
rs1057518756
|
|
NM_000284.4(PDHA1):c.998_1008+20dup
|
rs2063233544
|
|
NM_000352.6(ABCC8):c.3399+6G>A
|
rs1954472209
|
|
NM_000360.4(TH):c.818A>C (p.Glu273Ala)
|
rs1846110049
|
|
NM_000531.6(OTC):c.845A>G (p.Gln282Arg)
|
rs2068530314
|
|
NM_001690.4(ATP6V1A):c.1227-6A>G
|
rs1709148623
|
|
NM_001690.4(ATP6V1A):c.1531G>C (p.Val511Leu)
|
rs1709239976
|
|
NM_001876.4(CPT1A):c.1528C>T (p.Pro510Ser)
|
rs1279443212
|
|
NM_001918.5(DBT):c.391G>A (p.Val131Met)
|
rs1663510723
|
|
NM_002860.4(ALDH18A1):c.1990C>T (p.Leu664Phe)
|
rs2097834101
|
|
NM_002860.4(ALDH18A1):c.2159T>C (p.Phe720Ser)
|
rs2097831271
|
|
NM_002860.4(ALDH18A1):c.89-6C>G
|
rs2097895286
|
|
NM_003124.5(SPR):c.308C>G (p.Ser103Cys)
|
rs748740519
|
|
NM_003124.5(SPR):c.497G>A (p.Gly166Asp)
|
rs1404932614
|
|
NM_003477.3(PDHX):c.1204G>T (p.Asp402Tyr)
|
rs756801221
|
|
NM_005271.5(GLUD1):c.226C>T (p.Arg76Cys)
|
rs1841666156
|
|
NM_005629.4(SLC6A8):c.1767+9C>G
|
rs782076464
|
|
NM_006859.4(LIAS):c.393+7C>G
|
rs372423537
|
|
NM_020166.5(MCCC1):c.370-16T>G
|
rs1716772551
|
|
NM_175914.5(HNF4A):c.944TGC[4] (p.Leu319del)
|
rs776489992
|
|