|
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg)
|
rs121908529
|
|
NM_000030.3(AGXT):c.777-1G>C
|
rs180177267
|
|
NM_000030.3(AGXT):c.847-3C>G
|
rs180177286
|
|
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)
|
rs1800546
|
|
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp)
|
rs76917243
|
|
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys)
|
rs118203943
|
|
NM_000108.5(DLD):c.685G>T (p.Gly229Cys)
|
rs121964990
|
|
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter)
|
rs80356487
|
|
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)
|
rs1801175
|
|
NM_000151.4(G6PC1):c.508C>T (p.Arg170Ter)
|
rs373345919
|
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
|
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro)
|
rs779556619
|
|
NM_000152.5(GAA):c.169C>T (p.Gln57Ter)
|
rs1057516251
|
|
NM_000152.5(GAA):c.1979G>A (p.Arg660His)
|
rs374143224
|
|
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)
|
rs1800312
|
|
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)
|
rs121907943
|
|
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter)
|
rs780321415
|
|
NM_000155.4(GALT):c.404C>T (p.Ser135Leu)
|
rs111033690
|
|
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)
|
rs75391579
|
|
NM_000155.4(GALT):c.584T>C (p.Leu195Pro)
|
rs111033728
|
|
NM_000155.4(GALT):c.855G>T (p.Lys285Asn)
|
rs111033773
|
|
NM_000155.4(GALT):c.997C>T (p.Arg333Trp)
|
rs111033800
|
|
NM_000158.4(GBE1):c.691+2T>C
|
rs192044702
|
|
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser)
|
rs80338671
|
|
NM_000162.5(GCK):c.544G>A (p.Val182Met)
|
rs587780345
|
|
NM_000162.5(GCK):c.667G>A (p.Gly223Ser)
|
rs1360415315
|
|
NM_000162.5(GCK):c.676G>A (p.Val226Met)
|
rs148311934
|
|
NM_000162.5(GCK):c.766G>A (p.Glu256Lys)
|
rs769268803
|
|
NM_000181.4(GUSB):c.526C>T (p.Leu176Phe)
|
rs121918181
|
|
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp)
|
rs777267343
|
|
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter)
|
rs374621913
|
|
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser)
|
rs143947056
|
|
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)
|
rs121965019
|
|
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg)
|
rs121965021
|
|
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)
|
rs121965020
|
|
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)
|
rs116100695
|
|
NM_000298.6(PKLR):c.721G>T (p.Glu241Ter)
|
rs201953584
|
|
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln)
|
rs72559734
|
|
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter)
|
rs72559722
|
|
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg)
|
rs376710410
|
|
NM_000512.5(GALNS):c.268C>T (p.Arg90Trp)
|
rs1028668536
|
|
NM_000512.5(GALNS):c.901G>T (p.Gly301Cys)
|
rs118204443
|
|
NM_000642.3(AGL):c.256C>T (p.Gln86Ter)
|
rs193186112
|
|
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp)
|
rs119103229
|
|
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)
|
rs80338685
|
|
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)
|
rs104893688
|
|
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys)
|
rs80338686
|
|
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)
|
rs13073139
|
|
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly)
|
rs28934601
|
|
NM_004130.3(GYG1):c.304G>C (p.Asp102His)
|
rs143137713
|
|
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)
|
rs116987552
|
|
NM_005609.4(PYGM):c.1768+1G>A
|
rs771427957
|
|
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser)
|
rs119103251
|
|
NM_006516.3(SLC2A1):c.667C>T (p.Arg223Trp)
|
rs796053248
|
|
NM_006516.3(SLC2A1):c.997C>T (p.Arg333Trp)
|
rs80359825
|
|
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter)
|
rs201337954
|
|
NM_021957.4(GYS2):c.1156C>T (p.Arg386Ter)
|
rs146195866
|
|
NM_021957.4(GYS2):c.547C>T (p.Gln183Ter)
|
rs201157731
|
|
NM_021957.4(GYS2):c.574C>T (p.Arg192Ter)
|
rs150382575
|
|
NM_021957.4(GYS2):c.736C>T (p.Arg246Ter)
|
rs121918419
|
|
NM_138413.4(HOGA1):c.208C>T (p.Arg70Ter)
|
rs758304537
|
|
NM_138413.4(HOGA1):c.700+5G>T
|
rs185803104
|
|
NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys)
|
rs753355844
|
|
NM_152419.3(HGSNAT):c.493+1G>A
|
rs193066451
|