NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)
|
rs121907943
|
0.00063
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)
|
rs1801175
|
0.00034
|
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys)
|
rs104894636
|
0.00021
|
NM_004563.4(PCK2):c.577C>T (p.Arg193Ter)
|
rs753706965
|
0.00005
|
NM_000298.6(PKLR):c.331G>A (p.Gly111Arg)
|
rs918627824
|
0.00002
|
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys)
|
rs529855742
|
0.00001
|
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp)
|
rs104894596
|
0.00001
|
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn)
|
rs1052471595
|
0.00001
|
NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter)
|
rs72555372
|
0.00001
|
NM_000404.4(GLB1):c.443G>A (p.Arg148His)
|
rs745864233
|
0.00001
|
NM_000642.3(AGL):c.664+3A>G
|
rs370792293
|
0.00001
|
NM_152419.3(HGSNAT):c.1345dup (p.Asp449fs)
|
rs483352894
|
0.00001
|
NM_000151.4(G6PC1):c.592_593del (p.Ile198fs)
|
rs2151932243
|
|
NM_000152.5(GAA):c.896T>C (p.Leu299Pro)
|
rs121907940
|
|
NM_000158.4(GBE1):c.998A>T (p.Glu333Val)
|
rs1553684545
|
|
NM_000199.5(SGSH):c.578T>C (p.Phe193Ser)
|
rs1555621662
|
|
NM_000199.5(SGSH):c.763del (p.Gln255fs)
|
rs1555620827
|
|
NM_000199.5(SGSH):c.89-2A>G
|
rs1369704445
|
|
NM_000202.8(IDS):c.196C>T (p.Gln66Ter)
|
rs1557340403
|
|
NM_000202.8(IDS):c.473ATC[1] (p.His159del)
|
rs1557339887
|
|
NM_000203.5(IDUA):c.1029C>A (p.Tyr343Ter)
|
rs764196171
|
|
NM_000203.5(IDUA):c.612_615dup (p.Ser206fs)
|
rs875989947
|
|
NM_000263.4(NAGLU):c.1944dup (p.Trp649fs)
|
rs886039895
|
|
NM_000263.4(NAGLU):c.480del (p.Asn160fs)
|
rs886039894
|
|
NM_000284.4(PDHA1):c.1133G>A (p.Arg378His)
|
rs137853250
|
|
NM_000340.2(SLC2A2):c.1043dup (p.Asn349fs)
|
rs1553785722
|
|
NM_000340.2(SLC2A2):c.613-1G>C
|
rs1553786361
|
|
NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys)
|
rs28938469
|
|
NM_000507.4(FBP1):c.841G>T (p.Glu281Ter)
|
rs566453434
|
|
NM_000512.5(GALNS):c.542A>G (p.Tyr181Cys)
|
rs786205899
|
|
NM_000512.5(GALNS):c.952A>G (p.Met318Val)
|
rs537013895
|
|
NM_000525.4(KCNJ11):c.368dup (p.Ser124fs)
|
rs1554901822
|
|
NM_000642.3(AGL):c.4221dup (p.Leu1408fs)
|
rs786204655
|
|
NM_000642.3(AGL):c.889A>T (p.Lys297Ter)
|
|
|
NM_000891.3(KCNJ2):c.1177G>T (p.Gly393Ter)
|
rs1598211614
|
|
NM_002863.5(PYGL):c.298_307del (p.Met100fs)
|
rs1555328280
|
|
NM_004830.4(MED23):c.670C>G (p.Arg224Gly)
|
rs1293450628
|
|
NM_005609.4(PYGM):c.1A>G (p.Met1Val)
|
rs267606993
|
|
NM_024989.4(PGAP1):c.776T>G (p.Leu259Ter)
|
rs1702534679
|
|
NM_152419.3(HGSNAT):c.1048C>T (p.Gln350Ter)
|
rs752939204
|
|