NM_000262.3(NAGA):c.-208G>C
|
rs133375
|
0.61550
|
NM_000262.3(NAGA):c.*1333T>C
|
rs1063392
|
0.38250
|
NM_000262.3(NAGA):c.598-15C>T
|
rs2854827
|
0.21339
|
NM_000262.3(NAGA):c.*1035G>A
|
rs62238588
|
0.05880
|
NM_000262.3(NAGA):c.957+4C>G
|
rs55715427
|
0.05864
|
NM_000262.3(NAGA):c.*143C>T
|
rs17002832
|
0.03106
|
NM_000262.3(NAGA):c.*1814C>T
|
rs80313011
|
0.02824
|
NM_000262.3(NAGA):c.*12A>C
|
rs2229547
|
0.02530
|
NM_000262.3(NAGA):c.*1103T>C
|
rs117826003
|
0.01315
|
NM_000262.3(NAGA):c.*1696C>T
|
rs11703233
|
0.01015
|
NM_000262.3(NAGA):c.*170G>A
|
rs142863061
|
0.00626
|
NM_000262.3(NAGA):c.*161T>C
|
rs150991002
|
0.00574
|
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)
|
rs121434529
|
0.00225
|
NM_000262.3(NAGA):c.*555C>T
|
rs141688392
|
0.00168
|
NM_000262.3(NAGA):c.*1311T>C
|
rs185586436
|
0.00142
|
NM_000262.3(NAGA):c.1209C>T (p.Ile403=)
|
rs201582948
|
0.00126
|
NM_000262.3(NAGA):c.*107G>A
|
rs531819016
|
0.00076
|
NM_000262.3(NAGA):c.787T>A (p.Leu263Ile)
|
rs140238609
|
0.00074
|
NM_000262.3(NAGA):c.837C>A (p.Pro279=)
|
rs149066012
|
0.00064
|
NM_000262.3(NAGA):c.760-7C>A
|
rs150693978
|
0.00063
|
NM_000262.3(NAGA):c.*176C>G
|
rs191051580
|
0.00048
|
NM_000262.3(NAGA):c.1146T>C (p.Asp382=)
|
rs6002590
|
0.00039
|
NM_000262.3(NAGA):c.*155A>G
|
rs761125179
|
0.00034
|
NM_000262.3(NAGA):c.*1555C>T
|
rs866446194
|
0.00032
|
NM_000262.3(NAGA):c.993G>T (p.Leu331=)
|
rs147853281
|
0.00029
|
NM_000262.3(NAGA):c.697G>A (p.Val233Met)
|
rs201294991
|
0.00018
|
NM_000262.3(NAGA):c.*572G>A
|
rs538578699
|
0.00014
|
NM_000262.3(NAGA):c.618G>A (p.Ala206=)
|
rs200770245
|
0.00010
|
NM_000262.3(NAGA):c.871G>A (p.Ala291Thr)
|
rs372146176
|
0.00008
|
NM_000262.3(NAGA):c.*1501C>G
|
rs750373836
|
0.00006
|
NM_000262.3(NAGA):c.*55C>T
|
rs1004630693
|
0.00006
|
NM_000262.3(NAGA):c.983T>C (p.Met328Thr)
|
rs140356002
|
0.00006
|
NM_000262.3(NAGA):c.*1724C>G
|
rs892278914
|
0.00004
|
NM_000262.3(NAGA):c.-43C>T
|
rs753592199
|
0.00004
|
NM_000262.3(NAGA):c.598-9G>A
|
rs772435890
|
0.00004
|
NM_000262.3(NAGA):c.986G>A (p.Arg329Gln)
|
rs121434533
|
0.00004
|
NM_000262.3(NAGA):c.*1252T>C
|
rs886057593
|
0.00003
|
NM_000262.3(NAGA):c.598-10C>T
|
rs776249174
|
0.00003
|
NM_000262.3(NAGA):c.638G>A (p.Arg213His)
|
rs781499383
|
0.00003
|
NM_000262.3(NAGA):c.859C>T (p.Arg287Cys)
|
rs368220690
|
0.00003
|
NM_000262.3(NAGA):c.1110C>T (p.Asp370=)
|
rs781670429
|
0.00002
|
NM_000262.3(NAGA):c.1111G>A (p.Val371Ile)
|
rs755283571
|
0.00002
|
NM_000262.3(NAGA):c.759+10T>G
|
rs906746504
|
0.00002
|
NM_000262.3(NAGA):c.*268G>A
|
rs886057596
|
0.00001
|
NM_000262.3(NAGA):c.1013T>C (p.Leu338Ser)
|
rs778343270
|
0.00001
|
NM_000262.3(NAGA):c.1085G>A (p.Gly362Glu)
|
rs199980021
|
0.00001
|
NM_000262.3(NAGA):c.1102-14C>A
|
rs377439996
|
0.00001
|
NM_000262.3(NAGA):c.1142G>A (p.Arg381Gln)
|
rs144771084
|
0.00001
|
NM_000262.3(NAGA):c.12G>A (p.Lys4=)
|
rs776865602
|
0.00001
|
NM_000262.3(NAGA):c.646G>A (p.Asp216Asn)
|
rs754849987
|
0.00001
|
NM_000262.3(NAGA):c.802G>A (p.Ala268Thr)
|
rs1569457519
|
0.00001
|
NM_000262.3(NAGA):c.822G>A (p.Thr274=)
|
rs765604983
|
0.00001
|
NM_000262.3(NAGA):c.957+7G>A
|
rs1193330730
|
0.00001
|
NC_000022.10:g.(?_42456283)_(42463314_?)del
|
|
|
NC_000022.10:g.(?_42461722)_(42464598_?)del
|
|
|
NM_000262.3(NAGA):c.*1090G>A
|
rs886057594
|
|
NM_000262.3(NAGA):c.*1299C>T
|
rs886057592
|
|
NM_000262.3(NAGA):c.*1484A>G
|
rs1433090840
|
|
NM_000262.3(NAGA):c.*1788_*1789del
|
rs10713176
|
|
NM_000262.3(NAGA):c.*1789del
|
rs10713176
|
|
NM_000262.3(NAGA):c.*1862C>A
|
rs1926176961
|
|
NM_000262.3(NAGA):c.*730T>C
|
rs1926239462
|
|
NM_000262.3(NAGA):c.*926C>G
|
rs886057595
|
|
NM_000262.3(NAGA):c.1008C>T (p.Ser336=)
|
|
|
NM_000262.3(NAGA):c.1009G>A (p.Ala337Thr)
|
|
|
NM_000262.3(NAGA):c.1029C>A (p.Cys343Ter)
|
|
|
NM_000262.3(NAGA):c.1035C>T (p.Thr345=)
|
|
|
NM_000262.3(NAGA):c.1036G>A (p.Asp346Asn)
|
|
|
NM_000262.3(NAGA):c.1047T>G (p.Tyr349Ter)
|
|
|
NM_000262.3(NAGA):c.1066G>A (p.Gly356Ser)
|
|
|
NM_000262.3(NAGA):c.1083C>A (p.Thr361=)
|
|
|
NM_000262.3(NAGA):c.1083C>T (p.Thr361=)
|
|
|
NM_000262.3(NAGA):c.1089T>G (p.Ser363=)
|
|
|
NM_000262.3(NAGA):c.1098T>C (p.Tyr366=)
|
|
|
NM_000262.3(NAGA):c.1101+10C>G
|
|
|
NM_000262.3(NAGA):c.1101+10C>T
|
|
|
NM_000262.3(NAGA):c.1101+11G>A
|
|
|
NM_000262.3(NAGA):c.1101+11G>C
|
|
|
NM_000262.3(NAGA):c.1102-10C>A
|
|
|
NM_000262.3(NAGA):c.1102-18T>C
|
|
|
NM_000262.3(NAGA):c.1102-7A>G
|
|
|
NM_000262.3(NAGA):c.1102-8C>T
|
|
|
NM_000262.3(NAGA):c.1102-9C>T
|
|
|
NM_000262.3(NAGA):c.1104C>T (p.Ala368=)
|
|
|
NM_000262.3(NAGA):c.1141C>T (p.Arg381Ter)
|
|
|
NM_000262.3(NAGA):c.1172A>C (p.Asn391Thr)
|
rs752717782
|
|
NM_000262.3(NAGA):c.1172A>G (p.Asn391Ser)
|
|
|
NM_000262.3(NAGA):c.1182G>A (p.Gly394=)
|
|
|
NM_000262.3(NAGA):c.1197C>T (p.Tyr399=)
|
|
|
NM_000262.3(NAGA):c.1208T>C (p.Ile403Thr)
|
|
|
NM_000262.3(NAGA):c.1224_1225insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCACGGTGAAACNNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCTGGAGATG (p.Ser409fs)
|
rs1926286045
|
|
NM_000262.3(NAGA):c.1225T>A (p.Ser409Thr)
|
rs1569456853
|
|
NM_000262.3(NAGA):c.1233G>A (p.Gln411=)
|
|
|
NM_000262.3(NAGA):c.16+12G>A
|
|
|
NM_000262.3(NAGA):c.16+16G>T
|
|
|
NM_000262.3(NAGA):c.16+1G>A
|
|
|
NM_000262.3(NAGA):c.16+8C>T
|
|
|
NM_000262.3(NAGA):c.16G>A (p.Val6Met)
|
rs1602499597
|
|
NM_000262.3(NAGA):c.598-17T>C
|
|
|
NM_000262.3(NAGA):c.598-1G>A
|
|
|
NM_000262.3(NAGA):c.598-20G>A
|
|
|
NM_000262.3(NAGA):c.598-5T>C
|
|
|
NM_000262.3(NAGA):c.606C>A (p.Tyr202Ter)
|
rs779423223
|
|
NM_000262.3(NAGA):c.606_607del (p.Tyr202_Ser203delinsTer)
|
|
|
NM_000262.3(NAGA):c.635G>A (p.Trp212Ter)
|
|
|
NM_000262.3(NAGA):c.639dup (p.Asn214Ter)
|
|
|
NM_000262.3(NAGA):c.648T>C (p.Asp216=)
|
|
|
NM_000262.3(NAGA):c.651C>T (p.Asp217=)
|
|
|
NM_000262.3(NAGA):c.655C>T (p.Gln219Ter)
|
|
|
NM_000262.3(NAGA):c.660C>T (p.Asp220=)
|
|
|
NM_000262.3(NAGA):c.665G>A (p.Trp222Ter)
|
|
|
NM_000262.3(NAGA):c.666G>A (p.Trp222Ter)
|
|
|
NM_000262.3(NAGA):c.672C>T (p.Ser224=)
|
|
|
NM_000262.3(NAGA):c.675G>T (p.Val225=)
|
|
|
NM_000262.3(NAGA):c.678C>G (p.Leu226=)
|
|
|
NM_000262.3(NAGA):c.685C>T (p.Leu229=)
|
|
|
NM_000262.3(NAGA):c.687G>A (p.Leu229=)
|
|
|
NM_000262.3(NAGA):c.696C>T (p.Phe232=)
|
|
|
NM_000262.3(NAGA):c.702G>A (p.Glu234=)
|
|
|
NM_000262.3(NAGA):c.729C>T (p.Ala243=)
|
|
|
NM_000262.3(NAGA):c.730G>A (p.Gly244Ser)
|
|
|
NM_000262.3(NAGA):c.732C>T (p.Gly244=)
|
|
|
NM_000262.3(NAGA):c.753T>C (p.Pro251=)
|
|
|
NM_000262.3(NAGA):c.756_757del (p.Met253fs)
|
|
|
NM_000262.3(NAGA):c.759+11G>A
|
|
|
NM_000262.3(NAGA):c.759+14G>A
|
|
|
NM_000262.3(NAGA):c.759+17G>T
|
|
|
NM_000262.3(NAGA):c.759+18G>A
|
|
|
NM_000262.3(NAGA):c.759+1_759+8del
|
rs768761898
|
|
NM_000262.3(NAGA):c.760-13T>C
|
|
|
NM_000262.3(NAGA):c.760-17C>G
|
|
|
NM_000262.3(NAGA):c.760-17_760-15del
|
|
|
NM_000262.3(NAGA):c.760-5C>A
|
|
|
NM_000262.3(NAGA):c.760-9T>C
|
|
|
NM_000262.3(NAGA):c.765C>A (p.Leu255=)
|
|
|
NM_000262.3(NAGA):c.774C>T (p.Asn258=)
|
|
|
NM_000262.3(NAGA):c.780T>C (p.Gly260=)
|
|
|
NM_000262.3(NAGA):c.793C>T (p.Gln265Ter)
|
|
|
NM_000262.3(NAGA):c.801G>A (p.Arg267=)
|
|
|
NM_000262.3(NAGA):c.816G>T (p.Leu272=)
|
|
|
NM_000262.3(NAGA):c.819G>T (p.Trp273Cys)
|
|
|
NM_000262.3(NAGA):c.833C>T (p.Ala278Val)
|
rs762474603
|
|
NM_000262.3(NAGA):c.834C>A (p.Ala278=)
|
|
|
NM_000262.3(NAGA):c.837C>G (p.Pro279=)
|
rs149066012
|
|
NM_000262.3(NAGA):c.838C>A (p.Leu280Ile)
|
rs578127376
|
|
NM_000262.3(NAGA):c.838C>G (p.Leu280Val)
|
|
|
NM_000262.3(NAGA):c.839del (p.Leu280fs)
|
|
|
NM_000262.3(NAGA):c.840C>A (p.Leu280=)
|
|
|
NM_000262.3(NAGA):c.843G>A (p.Leu281=)
|
|
|
NM_000262.3(NAGA):c.849C>T (p.Ser283=)
|
|
|
NM_000262.3(NAGA):c.867C>T (p.Ile289=)
|
|
|
NM_000262.3(NAGA):c.870C>T (p.Ser290=)
|
|
|
NM_000262.3(NAGA):c.874C>T (p.Gln292Ter)
|
|
|
NM_000262.3(NAGA):c.879C>T (p.Asn293=)
|
|
|
NM_000262.3(NAGA):c.894G>A (p.Gln298=)
|
|
|
NM_000262.3(NAGA):c.903C>G (p.Leu301=)
|
|
|
NM_000262.3(NAGA):c.903C>T (p.Leu301=)
|
rs765754053
|
|
NM_000262.3(NAGA):c.925C>T (p.Pro309Ser)
|
|
|
NM_000262.3(NAGA):c.928T>C (p.Leu310=)
|
|
|
NM_000262.3(NAGA):c.939G>A (p.Gln313=)
|
|
|
NM_000262.3(NAGA):c.949_957+8del
|
|
|
NM_000262.3(NAGA):c.957+13G>A
|
|
|
NM_000262.3(NAGA):c.957+16G>A
|
|
|
NM_000262.3(NAGA):c.958-12T>A
|
|
|
NM_000262.3(NAGA):c.958-14C>T
|
|
|
NM_000262.3(NAGA):c.958-16C>T
|
|
|
NM_000262.3(NAGA):c.958-20T>G
|
|
|
NM_000262.3(NAGA):c.958-6G>A
|
|
|
NM_000262.3(NAGA):c.958-7T>C
|
|
|
NM_000262.3(NAGA):c.958-8G>A
|
|
|
NM_000262.3(NAGA):c.968_969del (p.Leu323fs)
|
|
|
NM_000262.3(NAGA):c.972C>T (p.Ile324=)
|
|
|
NM_000262.3(NAGA):c.985C>T (p.Arg329Trp)
|
rs121434530
|
|