NM_000263.4(NAGLU):c.1558C>T (p.Arg520Trp)
|
rs992677795
|
0.00004
|
NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu)
|
rs751203469
|
0.00002
|
NM_000263.4(NAGLU):c.1208T>C (p.Ile403Thr)
|
rs796052122
|
0.00001
|
NM_000263.4(NAGLU):c.1946G>A (p.Trp649Ter)
|
rs527236038
|
0.00001
|
NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter)
|
rs752527478
|
0.00001
|
NM_000263.4(NAGLU):c.418T>A (p.Tyr140Asn)
|
rs2092909557
|
0.00001
|
NM_000263.4(NAGLU):c.701G>A (p.Arg234His)
|
rs886042073
|
0.00001
|
NC_000017.10:g.(?_40690337)_(40690793_?)dup
|
|
|
NM_000263.4(NAGLU):c.1000G>T (p.Val334Phe)
|
rs749140168
|
|
NM_000263.4(NAGLU):c.1004A>C (p.Tyr335Ser)
|
rs768918822
|
|
NM_000263.4(NAGLU):c.1082G>T (p.Trp361Leu)
|
rs753454744
|
|
NM_000263.4(NAGLU):c.1144G>T (p.Asp382Tyr)
|
rs1599260473
|
|
NM_000263.4(NAGLU):c.1172A>G (p.Tyr391Cys)
|
|
|
NM_000263.4(NAGLU):c.1207A>T (p.Ile403Phe)
|
|
|
NM_000263.4(NAGLU):c.1224C>A (p.His408Gln)
|
|
|
NM_000263.4(NAGLU):c.1277G>C (p.Gly426Ala)
|
rs771151036
|
|
NM_000263.4(NAGLU):c.1304A>C (p.Asn435Thr)
|
rs764815033
|
|
NM_000263.4(NAGLU):c.1364A>C (p.Tyr455Ser)
|
|
|
NM_000263.4(NAGLU):c.1445G>A (p.Arg482Gln)
|
rs200909691
|
|
NM_000263.4(NAGLU):c.1649T>C (p.Leu550Pro)
|
|
|
NM_000263.4(NAGLU):c.1681C>G (p.Leu561Val)
|
|
|
NM_000263.4(NAGLU):c.1682T>C (p.Leu561Pro)
|
rs2092928624
|
|
NM_000263.4(NAGLU):c.1744G>C (p.Ala582Pro)
|
rs144238669
|
|
NM_000263.4(NAGLU):c.1810C>T (p.Pro604Ser)
|
rs1347224658
|
|
NM_000263.4(NAGLU):c.1946G>C (p.Trp649Ser)
|
|
|
NM_000263.4(NAGLU):c.2021G>T (p.Arg674Leu)
|
|
|
NM_000263.4(NAGLU):c.2044C>G (p.Leu682Val)
|
rs1567894363
|
|
NM_000263.4(NAGLU):c.2171_2172del (p.Val724fs)
|
rs2143116788
|
|
NM_000263.4(NAGLU):c.291T>G (p.Cys97Trp)
|
rs2092906798
|
|
NM_000263.4(NAGLU):c.344C>T (p.Pro115Leu)
|
rs1379877908
|
|
NM_000263.4(NAGLU):c.388C>T (p.Arg130Cys)
|
|
|
NM_000263.4(NAGLU):c.418T>C (p.Tyr140His)
|
|
|
NM_000263.4(NAGLU):c.419A>C (p.Tyr140Ser)
|
|
|
NM_000263.4(NAGLU):c.459G>C (p.Glu153Asp)
|
rs746876753
|
|
NM_000263.4(NAGLU):c.461T>C (p.Ile154Thr)
|
|
|
NM_000263.4(NAGLU):c.461T>G (p.Ile154Arg)
|
rs770684838
|
|
NM_000263.4(NAGLU):c.482G>A (p.Gly161Asp)
|
|
|
NM_000263.4(NAGLU):c.531+1G>A
|
rs1245939928
|
|
NM_000263.4(NAGLU):c.532-1G>A
|
rs2143086378
|
|
NM_000263.4(NAGLU):c.532-1G>C
|
rs2143086378
|
|
NM_000263.4(NAGLU):c.638C>T (p.Pro213Leu)
|
|
|
NM_000263.4(NAGLU):c.700C>G (p.Arg234Gly)
|
rs104894601
|
|
NM_000263.4(NAGLU):c.701G>T (p.Arg234Leu)
|
rs886042073
|
|
NM_000263.4(NAGLU):c.764+2T>C
|
|
|
NM_000263.4(NAGLU):c.833C>T (p.Ser278Phe)
|
|
|
NM_000263.4(NAGLU):c.875G>A (p.Gly292Glu)
|
rs1209988199
|
|
NM_000263.4(NAGLU):c.911G>T (p.Gly304Val)
|
rs1599258487
|
|
NM_000263.4(NAGLU):c.925T>C (p.Tyr309His)
|
rs2143099180
|
|
NM_000263.4(NAGLU):c.926A>T (p.Tyr309Phe)
|
rs1305299665
|
|
NM_000263.4(NAGLU):c.934G>C (p.Asp312His)
|
|
|
NM_000263.4(NAGLU):c.935A>C (p.Asp312Ala)
|
|
|
NM_000263.4(NAGLU):c.940T>G (p.Phe314Val)
|
rs104894600
|
|
NM_000263.4(NAGLU):c.941T>C (p.Phe314Ser)
|
rs1181487342
|
|