NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)
|
rs1800546
|
0.00319
|
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)
|
rs121434529
|
0.00225
|
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)
|
rs75391579
|
0.00192
|
NM_000155.4(GALT):c.404C>T (p.Ser135Leu)
|
rs111033690
|
0.00094
|
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)
|
rs121965019
|
0.00086
|
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)
|
rs141976414
|
0.00080
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter)
|
rs201337954
|
0.00031
|
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro)
|
rs138504221
|
0.00015
|
NM_000642.3(AGL):c.256C>T (p.Gln86Ter)
|
rs193186112
|
0.00014
|
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys)
|
rs398123546
|
0.00014
|
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter)
|
rs104894592
|
0.00010
|
NM_000528.4(MAN2B1):c.1830+1G>C
|
rs80338677
|
0.00008
|
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro)
|
rs80338681
|
0.00006
|
NM_000151.4(G6PC1):c.508C>T (p.Arg170Ter)
|
rs373345919
|
0.00003
|
NM_000152.5(GAA):c.1831G>A (p.Gly611Ser)
|
rs1278340100
|
0.00002
|
NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter)
|
rs781784543
|
0.00002
|
NM_000642.3(AGL):c.595C>T (p.Gln199Ter)
|
rs780694207
|
0.00001
|
NM_006618.5(KDM5B):c.895C>T (p.Arg299Ter)
|
rs1558498928
|
0.00001
|
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)
|
rs1800312
|
|
NM_000202.8(IDS):c.1504T>G (p.Trp502Gly)
|
rs2089304297
|
|
NM_000208.4(INSR):c.1573C>T (p.Arg525Ter)
|
rs1599937180
|
|
NM_000284.4(PDHA1):c.628A>G (p.Met210Val)
|
rs794727843
|
|
NM_000525.4(KCNJ11):c.160dup (p.Arg54fs)
|
|
|
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp)
|
rs80338680
|
|
NM_000642.3(AGL):c.118C>T (p.Gln40Ter)
|
rs771961377
|
|
NM_000642.3(AGL):c.4249_4250del (p.Leu1417fs)
|
|
|
NM_000642.3(AGL):c.4562C>T (p.Ser1521Leu)
|
|
|
NM_001040616.3(LINS1):c.431del (p.Leu144fs)
|
rs764442764
|
|
NM_001136035.4(TRMT1):c.35del (p.Phe12fs)
|
|
|
NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His)
|
rs193302903
|
|
NM_003619.4(PRSS12):c.441_442del (p.Trp148fs)
|
rs760638778
|
|
NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln)
|
rs1553155986
|
|
NM_006765.4(TUSC3):c.55_69delinsGC (p.Tyr19fs)
|
|
|
NM_018255.4(ELP2):c.293dup (p.Leu98fs)
|
rs529659464
|
|