NM_000263.4(NAGLU):c.423T>C (p.Ser141=)
|
rs659497
|
0.99480
|
NM_000027.4(AGA):c.446C>G (p.Thr149Ser)
|
rs2228119
|
0.92759
|
NM_002076.4(GNS):c.198G>A (p.Pro66=)
|
rs1147096
|
0.70681
|
NM_000199.5(SGSH):c.663+17T>C
|
rs6565647
|
0.46516
|
NM_000512.5(GALNS):c.1431G>A (p.Glu477=)
|
rs2303271
|
0.40780
|
NM_000199.5(SGSH):c.1367G>A (p.Arg456His)
|
rs7503034
|
0.31021
|
NM_152419.3(HGSNAT):c.1377+20G>A
|
rs17603428
|
0.24049
|
NM_000027.4(AGA):c.281+13T>G
|
rs34241758
|
0.19395
|
NM_000512.5(GALNS):c.634-20C>T
|
rs17603837
|
0.08794
|
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile)
|
rs9894254
|
0.07931
|
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys)
|
rs149736764
|
0.00315
|
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=)
|
rs112751577
|
0.00237
|
NM_001931.5(DLAT):c.570A>G (p.Gln190=)
|
rs143107853
|
0.00160
|
NM_017721.5(CC2D1A):c.2048G>A (p.Arg683Gln)
|
rs201251295
|
0.00069
|
NM_000263.4(NAGLU):c.1446G>A (p.Arg482=)
|
rs115994665
|
0.00063
|
NM_000199.5(SGSH):c.734G>A (p.Arg245His)
|
rs104894635
|
0.00039
|
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys)
|
rs104894636
|
0.00021
|
NM_001931.5(DLAT):c.946C>T (p.Pro316Ser)
|
rs149088081
|
0.00021
|
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro)
|
rs138504221
|
0.00015
|
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp)
|
rs104894637
|
0.00011
|
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter)
|
rs104894592
|
0.00010
|
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys)
|
rs118204437
|
0.00006
|
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His)
|
rs104894590
|
0.00003
|
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg)
|
rs761607612
|
0.00002
|
NM_000027.4(AGA):c.336del (p.Ile112fs)
|
rs386833422
|
|
NM_000199.5(SGSH):c.1080del (p.Val361fs)
|
rs770947426
|
|
NM_001931.4(DLAT):c.381+22delT
|
rs5794771
|
|
NM_002076.4(GNS):c.253-10del
|
rs201654719
|
|