|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
|
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)
|
rs80356491
|
0.00026
|
|
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys)
|
rs104894636
|
0.00021
|
|
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp)
|
rs145798311
|
0.00004
|
|
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg)
|
rs28937909
|
0.00002
|
|
NM_000512.5(GALNS):c.938C>T (p.Thr313Met)
|
rs894525161
|
0.00002
|
|
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser)
|
rs536906561
|
0.00001
|
|
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln)
|
rs104894641
|
0.00001
|
|
NM_000202.8(IDS):c.1403G>A (p.Arg468Gln)
|
rs113993946
|
0.00001
|
|
NM_000203.5(IDUA):c.1883G>C (p.Arg628Pro)
|
rs200448421
|
0.00001
|
|
NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg)
|
rs1358994052
|
0.00001
|
|
NM_000340.2(SLC2A2):c.775+1G>A
|
rs756874949
|
0.00001
|
|
NM_000352.6(ABCC8):c.3641G>A (p.Arg1214Gln)
|
rs367850779
|
0.00001
|
|
NM_000434.4(NEU1):c.679G>A (p.Gly227Arg)
|
rs769765227
|
0.00001
|
|
NM_000512.5(GALNS):c.1175C>T (p.Ala392Val)
|
rs398123430
|
0.00001
|
|
NM_000512.5(GALNS):c.1240C>T (p.Gln414Ter)
|
rs757870208
|
0.00001
|
|
NM_000512.5(GALNS):c.697G>A (p.Asp233Asn)
|
rs753051547
|
0.00001
|
|
NM_001008216.2(GALE):c.280G>A (p.Val94Met)
|
rs121908047
|
0.00001
|
|
NM_000046.5(ARSB):c.157G>A (p.Asp53Asn)
|
rs1554032217
|
|
|
NM_000046.5(ARSB):c.289C>A (p.Gln97Lys)
|
|
|
|
NM_000046.5(ARSB):c.352_365dup (p.Pro123fs)
|
|
|
|
NM_000046.5(ARSB):c.438del (p.Trp146fs)
|
|
|
|
NM_000046.5(ARSB):c.943C>T (p.Arg315Ter)
|
rs891298440
|
|
|
NM_000147.5(FUCA1):c.577dup (p.Tyr193fs)
|
|
|
|
NM_000151.4(G6PC1):c.150_151del (p.Trp50fs)
|
rs1057516674
|
|
|
NM_000151.4(G6PC1):c.388_400del (p.Met130fs)
|
rs1567705064
|
|
|
NM_000152.5(GAA):c.1003G>A (p.Gly335Arg)
|
rs202095215
|
|
|
NM_000152.5(GAA):c.1861T>C (p.Trp621Arg)
|
rs1327361418
|
|
|
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn)
|
rs368438393
|
|
|
NM_000152.5(GAA):c.2092_2099del (p.Ala698fs)
|
|
|
|
NM_000152.5(GAA):c.2834_2835del (p.Glu945fs)
|
|
|
|
NM_000199.5(SGSH):c.1130G>A (p.Arg377His)
|
rs746037899
|
|
|
NM_000202.8(IDS):c.1006+1G>A
|
rs869025308
|
|
|
NM_000202.8(IDS):c.1277_1450del (p.Ser426_Asp484delinsTyr)
|
|
|
|
NM_000202.8(IDS):c.134A>G (p.Asp45Gly)
|
|
|
|
NM_000202.8(IDS):c.138C>A (p.Asp46Glu)
|
|
|
|
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp)
|
rs199422231
|
|
|
NM_000202.8(IDS):c.262C>T (p.Arg88Cys)
|
rs398123249
|
|
|
NM_000202.8(IDS):c.263G>A (p.Arg88His)
|
rs2089497431
|
|
|
NM_000202.8(IDS):c.404_405del (p.Lys135fs)
|
rs1557340221
|
|
|
NM_000202.8(IDS):c.514C>T (p.Arg172Ter)
|
rs104894860
|
|
|
NM_000202.8(IDS):c.692C>G (p.Pro231Arg)
|
rs2089450305
|
|
|
NM_000202.8(IDS):c.908C>T (p.Ser303Phe)
|
rs2124020665
|
|
|
NM_000203.5(IDUA):c.1096_1099del (p.Thr366fs)
|
rs2153022399
|
|
|
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro)
|
rs121965027
|
|
|
NM_000203.5(IDUA):c.187C>T (p.Gln63Ter)
|
rs2153015621
|
|
|
NM_000203.5(IDUA):c.300-4092_300-2318del
|
|
|
|
NM_000203.5(IDUA):c.34_46del (p.Ala12fs)
|
|
|
|
NM_000203.5(IDUA):c.784del (p.His262fs)
|
rs757928590
|
|
|
NM_000203.5(IDUA):c.895G>T (p.Glu299Ter)
|
rs1715120049
|
|
|
NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu)
|
rs104894598
|
|
|
NM_000263.4(NAGLU):c.291T>G (p.Cys97Trp)
|
rs2092906798
|
|
|
NM_000263.4(NAGLU):c.814_820dup (p.Ser274Ter)
|
|
|
|
NM_000292.3(PHKA2):c.3614C>T (p.Pro1205Leu)
|
rs137852288
|
|
|
NM_000512.5(GALNS):c.120+1G>C
|
rs911877265
|
|
|
NM_000512.5(GALNS):c.1241dup (p.Ile416fs)
|
rs1910631809
|
|
|
NM_000512.5(GALNS):c.187G>C (p.Ala63Pro)
|
|
|
|
NM_000512.5(GALNS):c.374del (p.Pro125fs)
|
|
|
|
NM_000512.5(GALNS):c.423-11_425del
|
|
|