NM_001909.5(CTSD):c.912G>A (p.Pro304=)
|
rs140238987
|
0.00281
|
NM_001909.5(CTSD):c.*509C>T
|
rs780680894
|
0.00255
|
NM_001909.5(CTSD):c.639C>G (p.Pro213=)
|
rs146073498
|
0.00197
|
NM_001909.5(CTSD):c.*210C>G
|
rs528911846
|
0.00156
|
NM_001909.5(CTSD):c.*694G>A
|
rs751538234
|
0.00116
|
NM_001909.5(CTSD):c.827+13T>C
|
rs369602025
|
0.00036
|
NM_001909.5(CTSD):c.1071+12A>G
|
rs113936232
|
0.00034
|
NM_001909.5(CTSD):c.*736C>G
|
rs577842141
|
0.00032
|
NM_001909.5(CTSD):c.1071+7G>A
|
rs374010531
|
0.00029
|
NM_001909.5(CTSD):c.1009G>A (p.Ala337Thr)
|
rs147800688
|
0.00025
|
NM_001909.5(CTSD):c.*358C>T
|
rs542969755
|
0.00022
|
NM_001909.5(CTSD):c.240C>T (p.Tyr80=)
|
rs147641822
|
0.00019
|
NM_001909.5(CTSD):c.*403C>T
|
rs140852332
|
0.00014
|
NM_001909.5(CTSD):c.*494C>T
|
rs551867617
|
0.00014
|
NM_001909.5(CTSD):c.758A>G (p.Lys253Arg)
|
rs138191189
|
0.00014
|
NM_001909.5(CTSD):c.1162G>A (p.Val388Ile)
|
rs202073338
|
0.00013
|
NM_001909.5(CTSD):c.592A>G (p.Ile198Val)
|
rs556334193
|
0.00011
|
NM_001909.5(CTSD):c.614G>A (p.Arg205His)
|
rs371522391
|
0.00010
|
NM_001909.5(CTSD):c.*130G>A
|
rs1002940636
|
0.00008
|
NM_001909.5(CTSD):c.*398G>A
|
rs776662882
|
0.00007
|
NM_001909.5(CTSD):c.1084G>A (p.Gly362Arg)
|
rs746733183
|
0.00006
|
NM_001909.5(CTSD):c.926G>A (p.Arg309His)
|
rs374540411
|
0.00006
|
NM_001909.5(CTSD):c.1071+6C>T
|
rs759803379
|
0.00005
|
NM_001909.5(CTSD):c.1208G>C (p.Arg403Thr)
|
rs779858404
|
0.00005
|
NM_001909.5(CTSD):c.505C>G (p.Leu169Val)
|
rs768487717
|
0.00005
|
NM_001909.5(CTSD):c.*117C>T
|
rs527778631
|
0.00004
|
NM_001909.5(CTSD):c.*390G>A
|
rs1262477522
|
0.00004
|
NM_001909.5(CTSD):c.1183A>G (p.Thr395Ala)
|
rs778724059
|
0.00004
|
NM_001909.5(CTSD):c.283G>A (p.Val95Ile)
|
rs141482597
|
0.00004
|
NM_001909.5(CTSD):c.299C>T (p.Ser100Phe)
|
rs796052407
|
0.00004
|
NM_001909.5(CTSD):c.376G>A (p.Asp126Asn)
|
rs796052401
|
0.00004
|
NM_001909.5(CTSD):c.470C>T (p.Ser157Leu)
|
rs587779409
|
0.00004
|
NM_001909.5(CTSD):c.704+6C>T
|
rs370847523
|
0.00004
|
NM_001909.5(CTSD):c.*654C>T
|
rs148490566
|
0.00003
|
NM_001909.5(CTSD):c.511G>A (p.Gly171Ser)
|
rs775460488
|
0.00003
|
NM_001909.5(CTSD):c.817C>T (p.His273Tyr)
|
rs145905196
|
0.00003
|
NM_001909.5(CTSD):c.969C>T (p.Gly323=)
|
rs774332555
|
0.00003
|
NM_001909.5(CTSD):c.*356C>G
|
rs886048062
|
0.00002
|
NM_001909.5(CTSD):c.1076C>T (p.Ser359Leu)
|
rs545364302
|
0.00002
|
NM_001909.5(CTSD):c.527G>A (p.Arg176Lys)
|
rs757688598
|
0.00002
|
NM_001909.5(CTSD):c.52G>A (p.Ala18Thr)
|
rs796052403
|
0.00002
|
NM_001909.5(CTSD):c.622G>A (p.Val208Ile)
|
rs778031733
|
0.00002
|
NM_001909.5(CTSD):c.68+6G>A
|
rs1011130987
|
0.00002
|
NM_001909.5(CTSD):c.*200C>G
|
rs1176741600
|
0.00001
|
NM_001909.5(CTSD):c.*330G>T
|
rs955942954
|
0.00001
|
NM_001909.5(CTSD):c.1028G>A (p.Gly343Glu)
|
rs796052406
|
0.00001
|
NM_001909.5(CTSD):c.1066C>T (p.Leu356Phe)
|
rs775579878
|
0.00001
|
NM_001909.5(CTSD):c.1069A>G (p.Lys357Glu)
|
rs765270800
|
0.00001
|
NM_001909.5(CTSD):c.1150A>G (p.Ile384Val)
|
rs767863175
|
0.00001
|
NM_001909.5(CTSD):c.1159G>A (p.Asp387Asn)
|
rs764522039
|
0.00001
|
NM_001909.5(CTSD):c.1222G>A (p.Glu408Lys)
|
rs554062876
|
0.00001
|
NM_001909.5(CTSD):c.1231C>T (p.Arg411Cys)
|
rs766987476
|
0.00001
|
NM_001909.5(CTSD):c.1232G>A (p.Arg411His)
|
rs200303993
|
0.00001
|
NM_001909.5(CTSD):c.241G>A (p.Gly81Arg)
|
rs199551387
|
0.00001
|
NM_001909.5(CTSD):c.260C>T (p.Thr87Met)
|
rs770248571
|
0.00001
|
NM_001909.5(CTSD):c.289G>A (p.Asp97Asn)
|
rs754680487
|
0.00001
|
NM_001909.5(CTSD):c.301T>C (p.Ser101Pro)
|
rs1049074086
|
0.00001
|
NM_001909.5(CTSD):c.353-7G>A
|
rs1438596750
|
0.00001
|
NM_001909.5(CTSD):c.371A>G (p.Asn124Ser)
|
rs375052866
|
0.00001
|
NM_001909.5(CTSD):c.380A>T (p.Lys127Met)
|
rs1438409242
|
0.00001
|
NM_001909.5(CTSD):c.423C>G (p.His141Gln)
|
rs375323994
|
0.00001
|
NM_001909.5(CTSD):c.471G>A (p.Ser157=)
|
rs760318745
|
0.00001
|
NM_001909.5(CTSD):c.488C>T (p.Ala163Val)
|
rs772976217
|
0.00001
|
NM_001909.5(CTSD):c.491C>T (p.Ser164Leu)
|
rs1845824897
|
0.00001
|
NM_001909.5(CTSD):c.518A>G (p.Lys173Arg)
|
rs746140722
|
0.00001
|
NM_001909.5(CTSD):c.631G>A (p.Val211Met)
|
rs779469223
|
0.00001
|
NM_001909.5(CTSD):c.640G>A (p.Val214Ile)
|
rs756998360
|
0.00001
|
NM_001909.5(CTSD):c.716C>T (p.Ala239Val)
|
rs759564989
|
0.00001
|
NM_001909.5(CTSD):c.751G>A (p.Asp251Asn)
|
rs763407972
|
0.00001
|
NM_001909.5(CTSD):c.769G>A (p.Gly257Ser)
|
rs746312808
|
0.00001
|
NM_001909.5(CTSD):c.796C>T (p.Arg266Cys)
|
rs373621431
|
0.00001
|
NM_001909.5(CTSD):c.829G>A (p.Val277Met)
|
rs372319807
|
0.00001
|
NM_001909.5(CTSD):c.898C>T (p.Leu300Phe)
|
rs1256954867
|
0.00001
|
NM_001909.5(CTSD):c.946G>A (p.Gly316Arg)
|
rs764766572
|
0.00001
|
NM_001909.5(CTSD):c.956C>T (p.Pro319Leu)
|
rs373170074
|
0.00001
|
NM_001909.5(CTSD):c.972+6C>T
|
rs765320531
|
0.00001
|
NM_001909.5(CTSD):c.978G>A (p.Met326Ile)
|
rs370282882
|
0.00001
|
NC_000011.9:g.(?_1774733)_(1778806_?)del
|
|
|
NC_000011.9:g.(?_1774733)_(1778806_?)dup
|
|
|
NC_000011.9:g.(?_1774733)_(1785089_?)dup
|
|
|
NM_001909.5(CTSD):c.*133G>A
|
rs1276388326
|
|
NM_001909.5(CTSD):c.*342C>T
|
rs1050822
|
|
NM_001909.5(CTSD):c.*375A>G
|
rs916854972
|
|
NM_001909.5(CTSD):c.*555C>A
|
rs539003212
|
|
NM_001909.5(CTSD):c.*574C>T
|
rs886048061
|
|
NM_001909.5(CTSD):c.*58C>T
|
rs886048063
|
|
NM_001909.5(CTSD):c.*651C>T
|
rs991617803
|
|
NM_001909.5(CTSD):c.*98G>A
|
rs376087786
|
|
NM_001909.5(CTSD):c.1009G>T (p.Ala337Ser)
|
rs147800688
|
|
NM_001909.5(CTSD):c.1012A>C (p.Ile338Leu)
|
|
|
NM_001909.5(CTSD):c.1034A>G (p.Lys345Arg)
|
rs1845759906
|
|
NM_001909.5(CTSD):c.1064C>T (p.Thr355Met)
|
|
|
NM_001909.5(CTSD):c.1071+10C>T
|
rs2133657508
|
|
NM_001909.5(CTSD):c.1072-1G>A
|
|
|
NM_001909.5(CTSD):c.1080G>C (p.Gln360His)
|
rs2133657278
|
|
NM_001909.5(CTSD):c.1081G>T (p.Ala361Ser)
|
rs1845756287
|
|
NM_001909.5(CTSD):c.1105G>A (p.Gly369Ser)
|
rs1845755979
|
|
NM_001909.5(CTSD):c.1111A>G (p.Met371Val)
|
|
|
NM_001909.5(CTSD):c.1119G>C (p.Met373Ile)
|
rs796052398
|
|
NM_001909.5(CTSD):c.1119G>T (p.Met373Ile)
|
|
|
NM_001909.5(CTSD):c.1129C>A (p.Pro377Thr)
|
|
|
NM_001909.5(CTSD):c.1136G>A (p.Ser379Asn)
|
rs1177483130
|
|
NM_001909.5(CTSD):c.1142del (p.Pro381fs)
|
|
|
NM_001909.5(CTSD):c.1146_1147del (p.Trp383fs)
|
rs2133657191
|
|
NM_001909.5(CTSD):c.1147_1148del (p.Trp383fs)
|
rs2133657189
|
|
NM_001909.5(CTSD):c.1171G>A (p.Gly391Ser)
|
|
|
NM_001909.5(CTSD):c.1174C>T (p.Arg392Cys)
|
|
|
NM_001909.5(CTSD):c.1175G>A (p.Arg392His)
|
rs374531851
|
|
NM_001909.5(CTSD):c.1175G>T (p.Arg392Leu)
|
rs374531851
|
|
NM_001909.5(CTSD):c.1196G>A (p.Arg399His)
|
rs797045138
|
|
NM_001909.5(CTSD):c.1199ACA[2] (p.Asn402del)
|
rs2133657126
|
|
NM_001909.5(CTSD):c.1204A>G (p.Asn402Asp)
|
|
|
NM_001909.5(CTSD):c.1210G>T (p.Val404Leu)
|
rs750489880
|
|
NM_001909.5(CTSD):c.1213G>A (p.Gly405Ser)
|
|
|
NM_001909.5(CTSD):c.1228G>C (p.Ala410Pro)
|
rs1316535195
|
|
NM_001909.5(CTSD):c.1229C>G (p.Ala410Gly)
|
rs1845753565
|
|
NM_001909.5(CTSD):c.1234C>T (p.Leu412Phe)
|
|
|
NM_001909.5(CTSD):c.1235T>G (p.Leu412Arg)
|
rs1554962202
|
|
NM_001909.5(CTSD):c.253A>G (p.Ile85Val)
|
rs1565022412
|
|
NM_001909.5(CTSD):c.256G>A (p.Gly86Arg)
|
rs1845850566
|
|
NM_001909.5(CTSD):c.262C>G (p.Pro88Ala)
|
rs796052400
|
|
NM_001909.5(CTSD):c.262C>T (p.Pro88Ser)
|
|
|
NM_001909.5(CTSD):c.269A>G (p.Gln90Arg)
|
|
|
NM_001909.5(CTSD):c.271T>C (p.Cys91Arg)
|
rs1042278213
|
|
NM_001909.5(CTSD):c.285C>T (p.Val95=)
|
rs1845849997
|
|
NM_001909.5(CTSD):c.28G>T (p.Ala10Ser)
|
rs1845913637
|
|
NM_001909.5(CTSD):c.293C>G (p.Thr98Arg)
|
rs748897941
|
|
NM_001909.5(CTSD):c.304A>C (p.Asn102His)
|
rs2133664207
|
|
NM_001909.5(CTSD):c.307C>G (p.Leu103Val)
|
rs750415207
|
|
NM_001909.5(CTSD):c.313G>A (p.Val105Ile)
|
rs897944478
|
|
NM_001909.5(CTSD):c.315C>A (p.Val105=)
|
rs1845849420
|
|
NM_001909.5(CTSD):c.339G>A (p.Leu113=)
|
rs2133664177
|
|
NM_001909.5(CTSD):c.343A>G (p.Ile115Val)
|
|
|
NM_001909.5(CTSD):c.347C>T (p.Ala116Val)
|
|
|
NM_001909.5(CTSD):c.353-6G>A
|
rs1565022065
|
|
NM_001909.5(CTSD):c.355A>G (p.Ile119Val)
|
|
|
NM_001909.5(CTSD):c.358C>T (p.His120Tyr)
|
rs1381781298
|
|
NM_001909.5(CTSD):c.370A>G (p.Asn124Asp)
|
rs1590907227
|
|
NM_001909.5(CTSD):c.378C>A (p.Asp126Glu)
|
|
|
NM_001909.5(CTSD):c.394G>A (p.Val132Met)
|
rs770820791
|
|
NM_001909.5(CTSD):c.407C>T (p.Thr136Ile)
|
|
|
NM_001909.5(CTSD):c.409T>A (p.Ser137Thr)
|
rs1845842497
|
|
NM_001909.5(CTSD):c.431C>T (p.Ser144Leu)
|
rs754147413
|
|
NM_001909.5(CTSD):c.437G>T (p.Ser146Ile)
|
rs911813557
|
|
NM_001909.5(CTSD):c.445G>A (p.Gly149Arg)
|
rs762336399
|
|
NM_001909.5(CTSD):c.463A>T (p.Thr155Ser)
|
rs764778708
|
|
NM_001909.5(CTSD):c.464_465delinsGC (p.Thr155Ser)
|
rs1845841625
|
|
NM_001909.5(CTSD):c.465_466inv (p.Val156Met)
|
|
|
NM_001909.5(CTSD):c.471+6T>G
|
rs2133663481
|
|
NM_001909.5(CTSD):c.472G>A (p.Val158Met)
|
|
|
NM_001909.5(CTSD):c.478T>C (p.Cys160Arg)
|
rs1845825044
|
|
NM_001909.5(CTSD):c.493T>A (p.Ser165Thr)
|
|
|
NM_001909.5(CTSD):c.497C>T (p.Ala166Val)
|
rs796052396
|
|
NM_001909.5(CTSD):c.49C>T (p.Pro17Ser)
|
rs1845913488
|
|
NM_001909.5(CTSD):c.502G>T (p.Ala168Ser)
|
rs1554962647
|
|
NM_001909.5(CTSD):c.508G>A (p.Gly170Ser)
|
|
|
NM_001909.5(CTSD):c.509G>A (p.Gly170Asp)
|
rs1845824451
|
|
NM_001909.5(CTSD):c.52G>C (p.Ala18Pro)
|
rs796052403
|
|
NM_001909.5(CTSD):c.555G>T (p.Gln185His)
|
|
|
NM_001909.5(CTSD):c.566C>T (p.Thr189Ile)
|
rs1554962634
|
|
NM_001909.5(CTSD):c.571A>G (p.Ile191Val)
|
rs750166391
|
|
NM_001909.5(CTSD):c.574G>A (p.Ala192Thr)
|
rs767282477
|
|
NM_001909.5(CTSD):c.586G>A (p.Asp196Asn)
|
rs1388675826
|
|
NM_001909.5(CTSD):c.608A>T (p.Tyr203Phe)
|
rs1590906292
|
|
NM_001909.5(CTSD):c.613C>T (p.Arg205Cys)
|
rs769825646
|
|
NM_001909.5(CTSD):c.616A>G (p.Ile206Val)
|
rs2133661989
|
|
NM_001909.5(CTSD):c.646G>A (p.Asp216Asn)
|
rs1235872591
|
|
NM_001909.5(CTSD):c.64G>T (p.Val22Phe)
|
rs1060502503
|
|
NM_001909.5(CTSD):c.657G>T (p.Met219Ile)
|
|
|
NM_001909.5(CTSD):c.659A>C (p.Gln220Pro)
|
rs886048066
|
|
NM_001909.5(CTSD):c.660G>C (p.Gln220His)
|
rs762797920
|
|
NM_001909.5(CTSD):c.665A>G (p.Lys222Arg)
|
rs1845822086
|
|
NM_001909.5(CTSD):c.670G>A (p.Val224Met)
|
|
|
NM_001909.5(CTSD):c.671T>A (p.Val224Glu)
|
|
|
NM_001909.5(CTSD):c.68+5A>C
|
|
|
NM_001909.5(CTSD):c.683TCT[1] (p.Phe229del)
|
rs1057519591
|
|
NM_001909.5(CTSD):c.689_691del (p.Ser230del)
|
|
|
NM_001909.5(CTSD):c.692_694del (p.Phe231del)
|
rs1478615059
|
|
NM_001909.5(CTSD):c.704+6C>A
|
rs370847523
|
|
NM_001909.5(CTSD):c.725G>T (p.Gly242Val)
|
|
|
NM_001909.5(CTSD):c.767A>G (p.Lys256Arg)
|
|
|
NM_001909.5(CTSD):c.797G>A (p.Arg266His)
|
|
|
NM_001909.5(CTSD):c.799A>C (p.Lys267Gln)
|
rs749091423
|
|
NM_001909.5(CTSD):c.827+5G>A
|
|
|
NM_001909.5(CTSD):c.828-19_828-18delinsCT
|
|
|
NM_001909.5(CTSD):c.828-3C>A
|
|
|
NM_001909.5(CTSD):c.829G>T (p.Val277Leu)
|
|
|
NM_001909.5(CTSD):c.832G>C (p.Glu278Gln)
|
rs1402574017
|
|
NM_001909.5(CTSD):c.833_835dup (p.Glu278_Val279insGlu)
|
|
|
NM_001909.5(CTSD):c.834G>C (p.Glu278Asp)
|
|
|
NM_001909.5(CTSD):c.845G>T (p.Gly282Val)
|
|
|
NM_001909.5(CTSD):c.851C>G (p.Thr284Ser)
|
|
|
NM_001909.5(CTSD):c.863A>G (p.Glu288Gly)
|
|
|
NM_001909.5(CTSD):c.887C>G (p.Thr296Arg)
|
|
|
NM_001909.5(CTSD):c.904G>T (p.Val302Leu)
|
rs749491748
|
|
NM_001909.5(CTSD):c.906G>A (p.Val302=)
|
|
|
NM_001909.5(CTSD):c.908_913del (p.Gly303_Pro304del)
|
|
|
NM_001909.5(CTSD):c.908_916del (p.Gly303_Val305del)
|
|
|
NM_001909.5(CTSD):c.918T>G (p.Asp306Glu)
|
|
|
NM_001909.5(CTSD):c.928G>A (p.Glu310Lys)
|
rs373699222
|
|
NM_001909.5(CTSD):c.940G>A (p.Ala314Thr)
|
rs886048065
|
|
NM_001909.5(CTSD):c.952G>A (p.Val318Met)
|
|
|
NM_001909.5(CTSD):c.968G>A (p.Gly323Asp)
|
rs761766384
|
|
NM_001909.5(CTSD):c.970G>A (p.Glu324Lys)
|
|
|
NM_001909.5(CTSD):c.972+4A>G
|
rs2133657784
|
|
NM_001909.5(CTSD):c.972+4_972+5dup
|
rs1386489811
|
|
NM_001909.5(CTSD):c.973-8C>A
|
rs886048064
|
|
NM_001909.5(CTSD):c.976A>G (p.Met326Val)
|
rs1425884068
|
|
NM_001909.5(CTSD):c.982C>T (p.Pro328Ser)
|
rs796052397
|
|
NM_001909.5(CTSD):c.993G>C (p.Lys331Asn)
|
rs1181418072
|
|
NM_001909.5(CTSD):c.999C>A (p.Ser333=)
|
rs755867394
|
|