|
NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys)
|
rs772311757
|
0.00004
|
|
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys)
|
rs104894639
|
0.00003
|
|
NM_000352.6(ABCC8):c.2921-9G>A
|
rs757171524
|
0.00003
|
|
NM_000263.4(NAGLU):c.2020C>T (p.Arg674Cys)
|
rs763299645
|
0.00002
|
|
NM_000199.5(SGSH):c.1429G>A (p.Asp477Asn)
|
rs1064795109
|
0.00001
|
|
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn)
|
rs1046551417
|
0.00001
|
|
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg)
|
rs398123246
|
0.00001
|
|
NM_000263.4(NAGLU):c.1991C>T (p.Ala664Val)
|
rs746006696
|
0.00001
|
|
NM_000512.5(GALNS):c.235T>C (p.Cys79Arg)
|
rs1478665723
|
0.00001
|
|
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu)
|
rs559063128
|
0.00001
|
|
NM_000512.5(GALNS):c.647T>C (p.Phe216Ser)
|
rs747805226
|
0.00001
|
|
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His)
|
rs769235753
|
0.00001
|
|
NC_000016.10:g.47614206_47644831del
|
|
|
|
NM_000046.5(ARSB):c.904G>A (p.Gly302Arg)
|
rs779378413
|
|
|
NM_000152.5(GAA):c.1663G>C (p.Ala555Pro)
|
|
|
|
NM_000152.5(GAA):c.1673G>A (p.Cys558Tyr)
|
|
|
|
NM_000152.5(GAA):c.2122del (p.His708fs)
|
|
|
|
NM_000152.5(GAA):c.844G>C (p.Asp282His)
|
|
|
|
NM_000202.8(IDS):c.1122C>T (p.Gly374=)
|
rs113993948
|
|
|
NM_000202.8(IDS):c.708G>A (p.Lys236=)
|
rs1602742620
|
|
|
NM_000203.5(IDUA):c.1192GAG[1] (p.Glu399del)
|
|
|
|
NM_000203.5(IDUA):c.373C>T (p.Gln125Ter)
|
|
|
|
NM_000263.4(NAGLU):c.1978A>G (p.Asn660Asp)
|
|
|
|
NM_000263.4(NAGLU):c.381C>G (p.Asn127Lys)
|
rs965226394
|
|
|
NM_000263.4(NAGLU):c.384-3C>A
|
rs1216280532
|
|
|
NM_000263.4(NAGLU):c.739G>T (p.Gly247Trp)
|
|
|
|
NM_000284.4(PDHA1):c.291+1_418+1dup
|
|
|
|
NM_000292.3(PHKA2):c.884G>A (p.Arg295His)
|
rs797044877
|
|
|
NM_000512.5(GALNS):c.1049T>C (p.Leu350Pro)
|
rs1910973930
|
|
|
NM_000512.5(GALNS):c.116A>G (p.Asp39Gly)
|
rs1967935882
|
|
|
NM_000512.5(GALNS):c.1259C>G (p.Pro420Arg)
|
rs752937387
|
|
|
NM_000512.5(GALNS):c.1387G>T (p.Glu463Ter)
|
|
|
|
NM_000512.5(GALNS):c.1483-2A>C
|
|
|
|
NM_000512.5(GALNS):c.1502G>C (p.Cys501Ser)
|
rs948490589
|
|
|
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg)
|
rs1422505598
|
|
|
NM_000512.5(GALNS):c.374C>T (p.Pro125Leu)
|
rs746949976
|
|
|
NM_000512.5(GALNS):c.764G>C (p.Gly255Ala)
|
rs1912009292
|
|
|
NM_000512.5(GALNS):c.835del (p.Asp279fs)
|
|
|
|
NM_000512.5(GALNS):c.836ACA[1] (p.Asn280del)
|
rs1389218771
|
|
|
NM_001040616.3(LINS1):c.937G>A (p.Glu313Lys)
|
rs1057519019
|
|
|
NM_005271.5(GLUD1):c.965G>A (p.Arg322His)
|
rs121909737
|
|
|
NM_006772.3(SYNGAP1):c.403C>T (p.Arg135Ter)
|
rs1131692154
|
|
|
NM_012434.5(SLC17A5):c.527G>T (p.Gly176Val)
|
|
|
|
NM_022172.2(PC):c.[2095G>A];[2095G>T]
|
|
|
|
NM_030805.4(LMAN2L):c.740G>A (p.Arg247His)
|
rs773649192
|
|
|
NM_152419.3(HGSNAT):c.836A>C (p.Asp279Ala)
|
rs1085307112
|
|