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.1558C>T (p.Arg520Trp)
|
rs992677795
|
0.00004
|
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln)
|
rs104894598
|
0.00004
|
NM_000263.4(NAGLU):c.208G>C (p.Gly70Arg)
|
rs1329159364
|
0.00004
|
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His)
|
rs104894590
|
0.00003
|
NM_000263.4(NAGLU):c.845C>T (p.Ala282Val)
|
rs144771528
|
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.1004A>G (p.Tyr335Cys)
|
rs768918822
|
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.1621C>T (p.Arg541Trp)
|
rs780527821
|
0.00001
|
NM_000263.4(NAGLU):c.1772T>C (p.Leu591Pro)
|
rs1215582852
|
0.00001
|
NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu)
|
rs527236037
|
0.00001
|
NM_000263.4(NAGLU):c.274T>C (p.Tyr92His)
|
rs1555621454
|
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.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.1000G>T (p.Val334Phe)
|
rs749140168
|
|
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.1163_1177del (p.Gln388_Thr392del)
|
rs1555622266
|
|
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.1336G>A (p.Glu446Lys)
|
rs114625063
|
|
NM_000263.4(NAGLU):c.1395_1397del (p.Lys465_Asp466delinsAsn)
|
rs1555622346
|
|
NM_000263.4(NAGLU):c.13_16del (p.Ala5fs)
|
rs1555621402
|
|
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.1445G>A (p.Arg482Gln)
|
rs200909691
|
|
NM_000263.4(NAGLU):c.144C>G (p.Phe48Leu)
|
rs104894599
|
|
NM_000263.4(NAGLU):c.1463dup (p.Asp489fs)
|
rs1396150639
|
|
NM_000263.4(NAGLU):c.1674C>G (p.Tyr558Ter)
|
rs762031686
|
|
NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu)
|
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.1851G>T (p.Leu617Phe)
|
rs1555622482
|
|
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.1928G>A (p.Arg643His)
|
rs104894593
|
|
NM_000263.4(NAGLU):c.1932C>G (p.Tyr644Ter)
|
rs1555622533
|
|
NM_000263.4(NAGLU):c.193del (p.Tyr65fs)
|
rs1555621432
|
|
NM_000263.4(NAGLU):c.1995del (p.Leu666fs)
|
rs1555622545
|
|
NM_000263.4(NAGLU):c.202_203insCCG (p.Leu67_Gly68insAla)
|
rs1469781984
|
|
NM_000263.4(NAGLU):c.203GCG[5] (p.Gly71dup)
|
rs1186888836
|
|
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.20_31dup (p.Ala7_Val10dup)
|
rs1555621404
|
|
NM_000263.4(NAGLU):c.2113G>A (p.Glu705Lys)
|
rs1364203992
|
|
NM_000263.4(NAGLU):c.2158C>T (p.Arg720Ter)
|
rs1555622589
|
|
NM_000263.4(NAGLU):c.217_221dup (p.Val75fs)
|
rs1555621442
|
|
NM_000263.4(NAGLU):c.2183AGA[1] (p.Lys729del)
|
rs1216052074
|
|
NM_000263.4(NAGLU):c.219_237del (p.Arg74fs)
|
rs1431589133
|
|
NM_000263.4(NAGLU):c.220dup (p.Arg74fs)
|
rs1555621448
|
|
NM_000263.4(NAGLU):c.2229G>A (p.Trp743Ter)
|
rs749371796
|
|
NM_000263.4(NAGLU):c.2232A>G (p.Ter744Trp)
|
rs1555622606
|
|
NM_000263.4(NAGLU):c.257_262dup (p.Ala86_Ala87dup)
|
rs1555621450
|
|
NM_000263.4(NAGLU):c.26_31del (p.Ala9_Val10del)
|
rs1555621405
|
|
NM_000263.4(NAGLU):c.2T>C (p.Met1Thr)
|
rs1013345784
|
|
NM_000263.4(NAGLU):c.343C>T (p.Pro115Ser)
|
rs758785463
|
|
NM_000263.4(NAGLU):c.358G>T (p.Glu120Ter)
|
rs1445294968
|
|
NM_000263.4(NAGLU):c.370_375del (p.Ala124_Thr125del)
|
rs1555621469
|
|
NM_000263.4(NAGLU):c.422C>T (p.Ser141Phe)
|
rs886043785
|
|
NM_000263.4(NAGLU):c.423_425del (p.Phe142del)
|
rs1555621579
|
|
NM_000263.4(NAGLU):c.461T>G (p.Ile154Arg)
|
rs770684838
|
|
NM_000263.4(NAGLU):c.465_467del (p.Asp155_Trp156delinsGlu)
|
rs1238423614
|
|
NM_000263.4(NAGLU):c.4G>T (p.Glu2Ter)
|
rs1555621397
|
|
NM_000263.4(NAGLU):c.503G>A (p.Trp168Ter)
|
rs398123281
|
|
NM_000263.4(NAGLU):c.512AGG[1] (p.Glu172del)
|
rs1555621605
|
|
NM_000263.4(NAGLU):c.531+46_531+75del
|
rs1555621618
|
|
NM_000263.4(NAGLU):c.5_10dup (p.Glu2_Ala3dup)
|
rs1555621396
|
|
NM_000263.4(NAGLU):c.680A>C (p.His227Pro)
|
rs747155746
|
|
NM_000263.4(NAGLU):c.798_805del (p.Ser267fs)
|
rs1555622000
|
|
NM_000263.4(NAGLU):c.809del (p.His270fs)
|
rs1555622002
|
|
NM_000263.4(NAGLU):c.82del (p.Glu28fs)
|
rs1430122594
|
|
NM_000263.4(NAGLU):c.838_841del (p.Leu280fs)
|
rs756865833
|
|
NM_000263.4(NAGLU):c.867del (p.Ile290fs)
|
rs1555622019
|
|