NM_000263.4(NAGLU):c.423T>C (p.Ser141=)
|
rs659497
|
0.99480
|
NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter)
|
rs104894591
|
0.00013
|
NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp)
|
rs104894597
|
0.00010
|
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter)
|
rs104894592
|
0.00010
|
NM_000263.4(NAGLU):c.1441C>T (p.Arg481Trp)
|
rs747529593
|
0.00005
|
NM_000263.4(NAGLU):c.1073C>T (p.Pro358Leu)
|
rs368687817
|
0.00004
|
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln)
|
rs104894598
|
0.00004
|
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys)
|
rs147036053
|
0.00004
|
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu)
|
rs104894595
|
0.00002
|
NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu)
|
rs751203469
|
0.00002
|
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys)
|
rs753520553
|
0.00002
|
NM_000263.4(NAGLU):c.1021+1G>T
|
rs1447465424
|
0.00001
|
NM_000263.4(NAGLU):c.1208T>C (p.Ile403Thr)
|
rs796052122
|
0.00001
|
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg)
|
rs768814260
|
0.00001
|
NM_000263.4(NAGLU):c.1447dup (p.Tyr483fs)
|
rs778021009
|
0.00001
|
NM_000263.4(NAGLU):c.1487T>C (p.Leu496Pro)
|
rs569519789
|
0.00001
|
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter)
|
rs1244655820
|
0.00001
|
NM_000263.4(NAGLU):c.1772T>C (p.Leu591Pro)
|
rs1215582852
|
0.00001
|
NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys)
|
rs104894594
|
0.00001
|
NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter)
|
rs752527478
|
0.00001
|
NM_000263.4(NAGLU):c.384-1G>A
|
rs764134891
|
0.00001
|
NM_000263.4(NAGLU):c.608G>A (p.Arg203Gln)
|
rs904118831
|
0.00001
|
NM_000263.4(NAGLU):c.700C>T (p.Arg234Cys)
|
rs104894601
|
0.00001
|
NM_000263.4(NAGLU):c.757G>A (p.Val253Ile)
|
rs764452721
|
0.00001
|
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn)
|
rs1052471595
|
0.00001
|
NM_000263.4(NAGLU):c.1211G>A (p.Trp404Ter)
|
rs904672363
|
|
NM_000263.4(NAGLU):c.1229T>C (p.Phe410Ser)
|
rs574688121
|
|
NM_000263.4(NAGLU):c.1493T>C (p.Leu498Pro)
|
|
|
NM_000263.4(NAGLU):c.1694G>C (p.Arg565Pro)
|
rs104894598
|
|
NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu)
|
rs104894598
|
|
NM_000263.4(NAGLU):c.2113G>A (p.Glu705Lys)
|
rs1364203992
|
|
NM_000263.4(NAGLU):c.2209C>G (p.Arg737Gly)
|
rs86312
|
|
NM_000263.4(NAGLU):c.2214G>A (p.Trp738Ter)
|
|
|
NM_000263.4(NAGLU):c.358G>T (p.Glu120Ter)
|
rs1445294968
|
|
NM_000263.4(NAGLU):c.384-32_384-20dup
|
|
|
NM_000263.4(NAGLU):c.410_413del (p.Thr137fs)
|
rs1460796923
|
|
NM_000263.4(NAGLU):c.461T>C (p.Ile154Thr)
|
|
|
NM_000263.4(NAGLU):c.461T>G (p.Ile154Arg)
|
rs770684838
|
|
NM_000263.4(NAGLU):c.503G>A (p.Trp168Ter)
|
rs398123281
|
|
NM_000263.4(NAGLU):c.507_516del (p.Ser169fs)
|
rs483352897
|
|
NM_000263.4(NAGLU):c.678+1G>A
|
rs2143087145
|
|
NM_000263.4(NAGLU):c.680A>C (p.His227Pro)
|
rs747155746
|
|
NM_000263.4(NAGLU):c.736G>C (p.Ala246Pro)
|
rs1415169705
|
|
NM_000263.4(NAGLU):c.926A>G (p.Tyr309Cys)
|
rs1305299665
|
|