NM_000263.4(NAGLU):c.1558C>T (p.Arg520Trp)
|
rs992677795
|
0.00004
|
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln)
|
rs104894598
|
0.00004
|
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His)
|
rs104894590
|
0.00003
|
NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu)
|
rs751203469
|
0.00002
|
NM_000263.4(NAGLU):c.2020C>T (p.Arg674Cys)
|
rs763299645
|
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.1200del (p.Gln400fs)
|
rs1485628563
|
0.00001
|
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg)
|
rs768814260
|
0.00001
|
NM_000263.4(NAGLU):c.1390C>T (p.Arg464Ter)
|
rs138387856
|
0.00001
|
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp)
|
rs104894596
|
0.00001
|
NM_000263.4(NAGLU):c.1447dup (p.Tyr483fs)
|
rs778021009
|
0.00001
|
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter)
|
rs1244655820
|
0.00001
|
NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu)
|
rs527236037
|
0.00001
|
NM_000263.4(NAGLU):c.1991C>T (p.Ala664Val)
|
rs746006696
|
0.00001
|
NM_000263.4(NAGLU):c.383+1G>T
|
rs727504028
|
0.00001
|
NM_000263.4(NAGLU):c.384-1G>A
|
rs764134891
|
0.00001
|
NM_000263.4(NAGLU):c.556C>T (p.Gln186Ter)
|
rs1270564492
|
0.00001
|
NM_000263.4(NAGLU):c.694C>T (p.Gln232Ter)
|
rs886043792
|
0.00001
|
NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg)
|
rs1358994052
|
0.00001
|
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn)
|
rs1052471595
|
0.00001
|
NM_000263.4(NAGLU):c.1004A>C (p.Tyr335Ser)
|
rs768918822
|
|
NM_000263.4(NAGLU):c.1006G>T (p.Glu336Ter)
|
rs376090795
|
|
NM_000263.4(NAGLU):c.1063del (p.Gln355fs)
|
rs1180591588
|
|
NM_000263.4(NAGLU):c.1093C>T (p.Gln365Ter)
|
rs1555622242
|
|
NM_000263.4(NAGLU):c.1112del (p.Gly371fs)
|
rs1555622250
|
|
NM_000263.4(NAGLU):c.1313T>G (p.Met438Arg)
|
rs1567893399
|
|
NM_000263.4(NAGLU):c.1421G>A (p.Trp474Ter)
|
rs1555622351
|
|
NM_000263.4(NAGLU):c.1425del (p.Thr476fs)
|
rs1250949842
|
|
NM_000263.4(NAGLU):c.1438_1447del (p.Ala480fs)
|
rs1555622354
|
|
NM_000263.4(NAGLU):c.1463dup (p.Asp489fs)
|
rs1396150639
|
|
NM_000263.4(NAGLU):c.1674C>G (p.Tyr558Ter)
|
rs762031686
|
|
NM_000263.4(NAGLU):c.1675G>A (p.Asp559Asn)
|
rs767510451
|
|
NM_000263.4(NAGLU):c.1694G>C (p.Arg565Pro)
|
rs104894598
|
|
NM_000263.4(NAGLU):c.1705C>T (p.Gln569Ter)
|
rs1555622441
|
|
NM_000263.4(NAGLU):c.1708G>T (p.Glu570Ter)
|
rs1555622443
|
|
NM_000263.4(NAGLU):c.1863G>A (p.Trp621Ter)
|
rs1555622488
|
|
NM_000263.4(NAGLU):c.1893_1903del (p.Glu632fs)
|
rs1555622505
|
|
NM_000263.4(NAGLU):c.1915G>T (p.Glu639Ter)
|
rs555145190
|
|
NM_000263.4(NAGLU):c.1932C>G (p.Tyr644Ter)
|
rs1555622533
|
|
NM_000263.4(NAGLU):c.1978A>G (p.Asn660Asp)
|
|
|
NM_000263.4(NAGLU):c.1995del (p.Leu666fs)
|
rs1555622545
|
|
NM_000263.4(NAGLU):c.2053_2054del (p.Ser685fs)
|
rs1555622559
|
|
NM_000263.4(NAGLU):c.2062C>T (p.Gln688Ter)
|
rs1195831432
|
|
NM_000263.4(NAGLU):c.2113G>A (p.Glu705Lys)
|
rs1364203992
|
|
NM_000263.4(NAGLU):c.309G>A (p.Trp103Ter)
|
rs1567890328
|
|
NM_000263.4(NAGLU):c.343C>T (p.Pro115Ser)
|
rs758785463
|
|
NM_000263.4(NAGLU):c.381C>G (p.Asn127Lys)
|
rs965226394
|
|
NM_000263.4(NAGLU):c.384-3C>A
|
rs1216280532
|
|
NM_000263.4(NAGLU):c.397del (p.Gln133fs)
|
|
|
NM_000263.4(NAGLU):c.431G>A (p.Trp144Ter)
|
|
|
NM_000263.4(NAGLU):c.434G>A (p.Trp145Ter)
|
rs2092909726
|
|
NM_000263.4(NAGLU):c.457G>A (p.Glu153Lys)
|
rs1352416909
|
|
NM_000263.4(NAGLU):c.461T>G (p.Ile154Arg)
|
rs770684838
|
|
NM_000263.4(NAGLU):c.531+1G>A
|
rs1245939928
|
|
NM_000263.4(NAGLU):c.534_535del (p.Tyr179fs)
|
rs1567891258
|
|
NM_000263.4(NAGLU):c.587C>T (p.Pro196Leu)
|
rs1599255987
|
|
NM_000263.4(NAGLU):c.629G>A (p.Trp210Ter)
|
rs2092912895
|
|
NM_000263.4(NAGLU):c.676C>T (p.Gln226Ter)
|
|
|
NM_000263.4(NAGLU):c.680A>C (p.His227Pro)
|
rs747155746
|
|
NM_000263.4(NAGLU):c.739G>T (p.Gly247Trp)
|
|
|
NM_000263.4(NAGLU):c.798_805del (p.Ser267fs)
|
rs1555622000
|
|
NM_000263.4(NAGLU):c.809del (p.His270fs)
|
rs1555622002
|
|
NM_000263.4(NAGLU):c.838_841del (p.Leu280fs)
|
rs756865833
|
|
NM_000263.4(NAGLU):c.867del (p.Ile290fs)
|
rs1555622019
|
|