ClinVar Miner

List of variants in gene CTSD

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 612
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HGVS dbSNP gnomAD frequency
NM_001909.5(CTSD):c.*67A>G rs12214 0.21384
NM_001909.5(CTSD):c.705-74C>T rs2292963 0.16703
NM_001909.5(CTSD):c.*597A>C rs8839 0.14604
NM_001909.5(CTSD):c.704+233G>A rs2292962 0.14572
NM_001909.5(CTSD):c.1072-34T>C rs112379600 0.08874
NM_001909.5(CTSD):c.465T>C (p.Thr155=) rs11555039 0.08387
NM_001909.5(CTSD):c.472-99G>A rs72850956 0.08384
NM_001909.5(CTSD):c.353-17C>T rs7126177 0.06731
NM_001909.5(CTSD):c.231C>T (p.Ala77=) rs2230067 0.06127
NM_001909.5(CTSD):c.827+41C>T rs111444735 0.05845
NM_001909.5(CTSD):c.828-17G>A rs78735768 0.05315
NM_001909.5(CTSD):c.472-161G>T rs60582924 0.04708
NM_001909.5(CTSD):c.352+42T>C rs149907533 0.01641
NM_001909.5(CTSD):c.704+183G>A rs115786275 0.01477
NM_001909.5(CTSD):c.*300G>A rs113940256 0.01455
NM_001909.5(CTSD):c.1215C>A (p.Gly405=) rs138733377 0.01277
NM_001909.5(CTSD):c.352+48A>G rs139068420 0.01106
NM_001909.5(CTSD):c.472-27G>T rs146434428 0.00795
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) rs147278302 0.00650
NM_001909.5(CTSD):c.229-25C>T rs112184520 0.00603
NM_001909.5(CTSD):c.846G>A (p.Gly282=) rs112021026 0.00567
NM_001909.5(CTSD):c.1072-7G>A rs149019571 0.00560
NM_001909.5(CTSD):c.827+73C>T rs201119619 0.00542
NM_001909.5(CTSD):c.*288G>A rs112529968 0.00541
NM_001909.5(CTSD):c.828-19A>C rs200047861 0.00494
NM_001909.5(CTSD):c.*19G>A rs201434721 0.00493
NM_001909.5(CTSD):c.353-12C>T rs141523461 0.00468
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.827+22C>T rs113641298 0.00253
NM_001909.5(CTSD):c.951C>T (p.Ala317=) rs78306946 0.00211
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.353-11G>A rs372689713 0.00039
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.828-18C>T rs377228580 0.00022
NM_001909.5(CTSD):c.68+10C>T rs760082760 0.00020
NM_001909.5(CTSD):c.240C>T (p.Tyr80=) rs147641822 0.00019
NM_001909.5(CTSD):c.294G>A (p.Thr98=) rs369373285 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.*14C>T rs556410676 0.00013
NM_001909.5(CTSD):c.1077G>A (p.Ser359=) rs138940129 0.00013
NM_001909.5(CTSD):c.1162G>A (p.Val388Ile) rs202073338 0.00013
NM_001909.5(CTSD):c.1230C>T (p.Ala410=) rs772742148 0.00013
NM_001909.5(CTSD):c.957G>A (p.Pro319=) rs369229897 0.00013
NM_001909.5(CTSD):c.1202A>G (p.Asn401Ser) rs147553344 0.00012
NM_001909.5(CTSD):c.1122C>T (p.Asp374=) rs145821780 0.00011
NM_001909.5(CTSD):c.592A>G (p.Ile198Val) rs556334193 0.00011
NM_001909.5(CTSD):c.471+16G>A rs567387961 0.00010
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.1137C>T (p.Ser379=) rs141981301 0.00008
NM_001909.5(CTSD):c.471+15G>C rs201413619 0.00008
NM_001909.5(CTSD):c.630C>T (p.Asn210=) rs375282504 0.00008
NM_001909.5(CTSD):c.*398G>A rs776662882 0.00007
NM_001909.5(CTSD):c.261G>A (p.Thr87=) rs372181453 0.00007
NM_001909.5(CTSD):c.1084G>A (p.Gly362Arg) rs746733183 0.00006
NM_001909.5(CTSD):c.267C>G (p.Pro89=) rs139154882 0.00006
NM_001909.5(CTSD):c.411G>A (p.Ser137=) rs372999684 0.00006
NM_001909.5(CTSD):c.627C>T (p.Asn209=) rs772453588 0.00006
NM_001909.5(CTSD):c.685T>A (p.Phe229Ile) rs121912789 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.37C>T (p.Leu13=) rs763474887 0.00005
NM_001909.5(CTSD):c.410C>T (p.Ser137Leu) rs777645484 0.00005
NM_001909.5(CTSD):c.505C>G (p.Leu169Val) rs768487717 0.00005
NM_001909.5(CTSD):c.534C>G (p.Val178=) rs758852382 0.00005
NM_001909.5(CTSD):c.606C>G (p.Ala202=) rs775478289 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.1062C>T (p.Tyr354=) rs764106396 0.00004
NM_001909.5(CTSD):c.1071+9G>A rs747408239 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.393C>T (p.Tyr131=) rs776128996 0.00004
NM_001909.5(CTSD):c.447G>A (p.Gly149=) rs752032660 0.00004
NM_001909.5(CTSD):c.470C>T (p.Ser157Leu) rs587779409 0.00004
NM_001909.5(CTSD):c.510C>T (p.Gly170=) rs749196696 0.00004
NM_001909.5(CTSD):c.693C>T (p.Phe231=) rs534216994 0.00004
NM_001909.5(CTSD):c.697C>T (p.Leu233=) rs142330967 0.00004
NM_001909.5(CTSD):c.704+6C>T rs370847523 0.00004
NM_001909.5(CTSD):c.828-4G>A rs371034011 0.00004
NM_001909.5(CTSD):c.927C>T (p.Arg309=) rs1174115566 0.00004
NM_001909.5(CTSD):c.972+7G>A rs371747998 0.00004
NM_001909.5(CTSD):c.972+9C>T rs746243061 0.00004
NM_001909.5(CTSD):c.*654C>T rs148490566 0.00003
NM_001909.5(CTSD):c.288C>T (p.Phe96=) rs778220078 0.00003
NM_001909.5(CTSD):c.432G>A (p.Ser144=) rs587780916 0.00003
NM_001909.5(CTSD):c.472-11C>G rs753302848 0.00003
NM_001909.5(CTSD):c.511G>A (p.Gly171Ser) rs775460488 0.00003
NM_001909.5(CTSD):c.704+18C>T rs371260793 0.00003
NM_001909.5(CTSD):c.771T>C (p.Gly257=) rs376607594 0.00003
NM_001909.5(CTSD):c.817C>T (p.His273Tyr) rs145905196 0.00003
NM_001909.5(CTSD):c.828-5C>T rs762444592 0.00003
NM_001909.5(CTSD):c.882G>A (p.Val294=) rs778999077 0.00003
NM_001909.5(CTSD):c.945C>T (p.Ile315=) rs752172496 0.00003
NM_001909.5(CTSD):c.969C>T (p.Gly323=) rs774332555 0.00003
NM_001909.5(CTSD):c.*10C>T rs768283127 0.00002
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.1101G>A (p.Leu367=) rs777289049 0.00002
NM_001909.5(CTSD):c.270G>A (p.Gln90=) rs587780915 0.00002
NM_001909.5(CTSD):c.352+8A>T rs944771031 0.00002
NM_001909.5(CTSD):c.352+9C>T rs764034136 0.00002
NM_001909.5(CTSD):c.444C>T (p.Ser148=) rs767817481 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.717G>A (p.Ala239=) rs368699900 0.00002
NM_001909.5(CTSD):c.*11G>A rs377057633 0.00001
NM_001909.5(CTSD):c.*17G>A rs201616935 0.00001
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.1008C>T (p.Pro336=) rs769758232 0.00001
NM_001909.5(CTSD):c.1028G>A (p.Gly343Glu) rs796052406 0.00001
NM_001909.5(CTSD):c.1065G>A (p.Thr355=) rs377098800 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.1071+17G>A rs779757362 0.00001
NM_001909.5(CTSD):c.1072-9C>T rs1239405435 0.00001
NM_001909.5(CTSD):c.1083C>T (p.Ala361=) rs770325576 0.00001
NM_001909.5(CTSD):c.1104C>T (p.Ser368=) rs771647299 0.00001
NM_001909.5(CTSD):c.1116C>T (p.Gly372=) rs557342549 0.00001
NM_001909.5(CTSD):c.1128G>A (p.Pro376=) rs929763593 0.00001
NM_001909.5(CTSD):c.1140G>A (p.Gly380=) rs573523415 0.00001
NM_001909.5(CTSD):c.1150A>G (p.Ile384Val) rs767863175 0.00001
NM_001909.5(CTSD):c.1158C>T (p.Gly386=) rs762076054 0.00001
NM_001909.5(CTSD):c.1159G>A (p.Asp387Asn) rs764522039 0.00001
NM_001909.5(CTSD):c.1170C>T (p.Ile390=) rs370985523 0.00001
NM_001909.5(CTSD):c.1209G>A (p.Arg403=) rs756019204 0.00001
NM_001909.5(CTSD):c.1221C>T (p.Ala407=) rs1439111867 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.229-19G>A rs368152533 0.00001
NM_001909.5(CTSD):c.229-20C>T rs748457876 0.00001
NM_001909.5(CTSD):c.237C>T (p.Tyr79=) rs996421254 0.00001
NM_001909.5(CTSD):c.241G>A (p.Gly81Arg) rs199551387 0.00001
NM_001909.5(CTSD):c.244G>T (p.Glu82Ter) rs1845850847 0.00001
NM_001909.5(CTSD):c.24G>C (p.Pro8=) rs1478870280 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.345C>T (p.Ile115=) rs200875086 0.00001
NM_001909.5(CTSD):c.346G>A (p.Ala116Thr) rs367743333 0.00001
NM_001909.5(CTSD):c.353-20C>T rs1845843686 0.00001
NM_001909.5(CTSD):c.353-7G>A rs1438596750 0.00001
NM_001909.5(CTSD):c.366G>A (p.Lys122=) rs369424685 0.00001
NM_001909.5(CTSD):c.371A>G (p.Asn124Ser) rs375052866 0.00001
NM_001909.5(CTSD):c.375C>T (p.Ser125=) rs987735225 0.00001
NM_001909.5(CTSD):c.380A>T (p.Lys127Met) rs1438409242 0.00001
NM_001909.5(CTSD):c.408C>G (p.Thr136=) rs1060504644 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.472-15T>C rs758874267 0.00001
NM_001909.5(CTSD):c.488C>T (p.Ala163Val) rs772976217 0.00001
NM_001909.5(CTSD):c.489G>A (p.Ala163=) rs767476700 0.00001
NM_001909.5(CTSD):c.491C>T (p.Ser164Leu) rs1845824897 0.00001
NM_001909.5(CTSD):c.492G>A (p.Ser164=) rs577842448 0.00001
NM_001909.5(CTSD):c.518A>G (p.Lys173Arg) rs746140722 0.00001
NM_001909.5(CTSD):c.51C>T (p.Pro17=) rs1275398258 0.00001
NM_001909.5(CTSD):c.54C>T (p.Ala18=) rs753164840 0.00001
NM_001909.5(CTSD):c.552G>A (p.Lys184=) rs765849046 0.00001
NM_001909.5(CTSD):c.558A>G (p.Pro186=) rs755670512 0.00001
NM_001909.5(CTSD):c.60G>A (p.Ala20=) rs1225756370 0.00001
NM_001909.5(CTSD):c.621C>A (p.Ser207=) rs367978332 0.00001
NM_001909.5(CTSD):c.631G>A (p.Val211Met) rs779469223 0.00001
NM_001909.5(CTSD):c.636G>T (p.Leu212=) rs567625495 0.00001
NM_001909.5(CTSD):c.63C>T (p.Leu21=) rs1021613206 0.00001
NM_001909.5(CTSD):c.640G>A (p.Val214Ile) rs756998360 0.00001
NM_001909.5(CTSD):c.651C>T (p.Asn217=) rs1300811596 0.00001
NM_001909.5(CTSD):c.654G>A (p.Leu218=) rs201551100 0.00001
NM_001909.5(CTSD):c.675C>T (p.Asp225=) rs752646929 0.00001
NM_001909.5(CTSD):c.704+13G>A rs1337575299 0.00001
NM_001909.5(CTSD):c.705-4C>T rs1057521968 0.00001
NM_001909.5(CTSD):c.705-8C>T rs754748489 0.00001
NM_001909.5(CTSD):c.716C>T (p.Ala239Val) rs759564989 0.00001
NM_001909.5(CTSD):c.726G>A (p.Gly242=) rs774246142 0.00001
NM_001909.5(CTSD):c.729T>C (p.Gly243=) rs774691757 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.827+14G>A rs952272760 0.00001
NM_001909.5(CTSD):c.827+19C>T rs565656268 0.00001
NM_001909.5(CTSD):c.827+20G>A rs763211820 0.00001
NM_001909.5(CTSD):c.827+9T>A rs757270638 0.00001
NM_001909.5(CTSD):c.828-14_828-13del rs796052395 0.00001
NM_001909.5(CTSD):c.829G>A (p.Val277Met) rs372319807 0.00001
NM_001909.5(CTSD):c.843C>T (p.Ser281=) rs776321697 0.00001
NM_001909.5(CTSD):c.891C>T (p.Gly297=) rs755183661 0.00001
NM_001909.5(CTSD):c.898C>T (p.Leu300Phe) rs1256954867 0.00001
NM_001909.5(CTSD):c.933G>A (p.Leu311=) rs1428157464 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+10G>A rs531682785 0.00001
NM_001909.5(CTSD):c.972+6C>T rs765320531 0.00001
NM_001909.5(CTSD):c.973-10C>T rs542809677 0.00001
NM_001909.5(CTSD):c.973-14G>A rs1354741089 0.00001
NM_001909.5(CTSD):c.978G>A (p.Met326Ile) rs370282882 0.00001
NM_001909.5(CTSD):c.982C>G (p.Pro328Ala) rs796052397 0.00001
NM_001909.5(CTSD):c.993G>A (p.Lys331=) rs1181418072 0.00001
GRCh37/hg19 11p15.5(chr11:1774508-1785629)x3
NC_000011.9:g.(?_1774733)_(1778806_?)del
NC_000011.9:g.(?_1774733)_(1778806_?)dup
NC_000011.9:g.(?_1774733)_(1785089_?)del
NC_000011.9:g.(?_1774733)_(1785089_?)dup
NC_000011.9:g.(?_1785002)_(1785089_?)del
NM_001909.4:c.486-12G>A
NM_001909.5(CTSD):c.*133G>A rs1276388326
NM_001909.5(CTSD):c.*140G>T rs551607350
NM_001909.5(CTSD):c.*15G>A rs745784791
NM_001909.5(CTSD):c.*207TC[2] rs199970387
NM_001909.5(CTSD):c.*342C>T rs1050822
NM_001909.5(CTSD):c.*375A>G rs916854972
NM_001909.5(CTSD):c.*4C>G rs1057521403
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.1002C>T (p.Thr334=)
NM_001909.5(CTSD):c.1009G>T (p.Ala337Ser) rs147800688
NM_001909.5(CTSD):c.1010C>T (p.Ala337Val) rs1057518324
NM_001909.5(CTSD):c.1011G>A (p.Ala337=)
NM_001909.5(CTSD):c.1011G>T (p.Ala337=)
NM_001909.5(CTSD):c.1012A>C (p.Ile338Leu)
NM_001909.5(CTSD):c.1017A>G (p.Thr339=) rs1845760192
NM_001909.5(CTSD):c.1017A>T (p.Thr339=)
NM_001909.5(CTSD):c.1023G>A (p.Lys341=) rs111849172
NM_001909.5(CTSD):c.1029A>G (p.Gly343=)
NM_001909.5(CTSD):c.1034A>G (p.Lys345Arg) rs1845759906
NM_001909.5(CTSD):c.1036G>C (p.Gly346Arg) rs1565018716
NM_001909.5(CTSD):c.1047G>A (p.Leu349=) rs2133657544
NM_001909.5(CTSD):c.1050C>T (p.Ser350=)
NM_001909.5(CTSD):c.1052dup (p.Glu352fs)
NM_001909.5(CTSD):c.1056G>A (p.Glu352=)
NM_001909.5(CTSD):c.1064C>T (p.Thr355Met)
NM_001909.5(CTSD):c.1068C>G (p.Leu356=)
NM_001909.5(CTSD):c.1071+10C>A rs2133657508
NM_001909.5(CTSD):c.1071+10C>T rs2133657508
NM_001909.5(CTSD):c.1071+12A>T rs113936232
NM_001909.5(CTSD):c.1071+13_1072-57del
NM_001909.5(CTSD):c.1071+15G>A
NM_001909.5(CTSD):c.1071+16G>A
NM_001909.5(CTSD):c.1071+16G>T
NM_001909.5(CTSD):c.1071+17G>T
NM_001909.5(CTSD):c.1072-11G>A
NM_001909.5(CTSD):c.1072-11G>C rs143631836
NM_001909.5(CTSD):c.1072-12G>C
NM_001909.5(CTSD):c.1072-15C>G
NM_001909.5(CTSD):c.1072-17C>T
NM_001909.5(CTSD):c.1072-18C>T
NM_001909.5(CTSD):c.1072-1G>A
NM_001909.5(CTSD):c.1072-41G>C rs138305981
NM_001909.5(CTSD):c.1072-5C>T rs1184773829
NM_001909.5(CTSD):c.1072-7G>T rs149019571
NM_001909.5(CTSD):c.1072-8C>T
NM_001909.5(CTSD):c.1077G>C (p.Ser359=)
NM_001909.5(CTSD):c.1077G>T (p.Ser359=) rs138940129
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.1125C>T (p.Ile375=)
NM_001909.5(CTSD):c.1128G>C (p.Pro376=)
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.1146C>G (p.Leu382=) rs1030148662
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.1149G>C (p.Trp383Cys) rs121912790
NM_001909.5(CTSD):c.1155_1169dup (p.Phe389_Ile390insMetGlyAspValPhe) rs730882208
NM_001909.5(CTSD):c.1161C>T (p.Asp387=)
NM_001909.5(CTSD):c.1164C>G (p.Val388=)
NM_001909.5(CTSD):c.1164C>T (p.Val388=)
NM_001909.5(CTSD):c.1170C>G (p.Ile390Met) rs370985523
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.1176C>A (p.Arg392=)
NM_001909.5(CTSD):c.1182C>T (p.Tyr394=)
NM_001909.5(CTSD):c.1185T>C (p.Thr395=)
NM_001909.5(CTSD):c.1185T>G (p.Thr395=) rs1565018468
NM_001909.5(CTSD):c.1188G>A (p.Val396=)
NM_001909.5(CTSD):c.1194C>T (p.Asp398=)
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.1206C>T (p.Asn402=)
NM_001909.5(CTSD):c.1210G>T (p.Val404Leu) rs750489880
NM_001909.5(CTSD):c.1211T>G (p.Val404Gly) rs796052399
NM_001909.5(CTSD):c.1213G>A (p.Gly405Ser)
NM_001909.5(CTSD):c.1218C>T (p.Phe406=)
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.1236C>G (p.Leu412=) rs1565018392
NM_001909.5(CTSD):c.1236C>T (p.Leu412=)
NM_001909.5(CTSD):c.1239G>A (p.Ter413=)
NM_001909.5(CTSD):c.17_30dup (p.Leu11fs) rs2133668728
NM_001909.5(CTSD):c.229-12G>A rs767539066
NM_001909.5(CTSD):c.229-12G>C
NM_001909.5(CTSD):c.229-18del
NM_001909.5(CTSD):c.229-87_229-86insCTTCAGGG rs142871900
NM_001909.5(CTSD):c.229-8C>T
NM_001909.5(CTSD):c.241G>T (p.Gly81Trp) rs199551387
NM_001909.5(CTSD):c.243G>C (p.Gly81=)
NM_001909.5(CTSD):c.253A>G (p.Ile85Val) rs1565022412
NM_001909.5(CTSD):c.255C>T (p.Ile85=)
NM_001909.5(CTSD):c.256G>A (p.Gly86Arg) rs1845850566
NM_001909.5(CTSD):c.261G>C (p.Thr87=)
NM_001909.5(CTSD):c.262C>G (p.Pro88Ala) rs796052400
NM_001909.5(CTSD):c.262C>T (p.Pro88Ser)
NM_001909.5(CTSD):c.264C>T (p.Pro88=)
NM_001909.5(CTSD):c.266C>T (p.Pro89Leu)
NM_001909.5(CTSD):c.267C>A (p.Pro89=)
NM_001909.5(CTSD):c.267C>T (p.Pro89=)
NM_001909.5(CTSD):c.268del (p.Gln90fs) rs752612332
NM_001909.5(CTSD):c.268dup (p.Gln90fs) rs752612332
NM_001909.5(CTSD):c.269A>G (p.Gln90Arg)
NM_001909.5(CTSD):c.271T>C (p.Cys91Arg) rs1042278213
NM_001909.5(CTSD):c.276C>T (p.Phe92=)
NM_001909.5(CTSD):c.27C>T (p.Leu9=)
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.300C>T (p.Ser100=) rs1417163449
NM_001909.5(CTSD):c.304A>C (p.Asn102His) rs2133664207
NM_001909.5(CTSD):c.306C>T (p.Asn102=) rs1258957118
NM_001909.5(CTSD):c.307C>G (p.Leu103Val) rs750415207
NM_001909.5(CTSD):c.307C>T (p.Leu103=)
NM_001909.5(CTSD):c.309G>T (p.Leu103=)
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.318C>T (p.Pro106=) rs1845849397
NM_001909.5(CTSD):c.31C>T (p.Leu11Phe)
NM_001909.5(CTSD):c.330C>T (p.Cys110=)
NM_001909.5(CTSD):c.339G>A (p.Leu113=) rs2133664177
NM_001909.5(CTSD):c.342C>T (p.Asp114=)
NM_001909.5(CTSD):c.343A>G (p.Ile115Val)
NM_001909.5(CTSD):c.347C>T (p.Ala116Val)
NM_001909.5(CTSD):c.352+10G>A rs775828680
NM_001909.5(CTSD):c.352+10G>C rs775828680
NM_001909.5(CTSD):c.352+12A>G
NM_001909.5(CTSD):c.352+16T>C rs2133664139
NM_001909.5(CTSD):c.353-10C>T
NM_001909.5(CTSD):c.353-14G>C
NM_001909.5(CTSD):c.353-15T>C
NM_001909.5(CTSD):c.353-4G>A rs1565022058
NM_001909.5(CTSD):c.353-6G>A rs1565022065
NM_001909.5(CTSD):c.353-8C>G
NM_001909.5(CTSD):c.353-8C>T rs760934292
NM_001909.5(CTSD):c.353-9C>T rs1369399012
NM_001909.5(CTSD):c.355A>G (p.Ile119Val)
NM_001909.5(CTSD):c.358C>T (p.His120Tyr) rs1381781298
NM_001909.5(CTSD):c.360C>T (p.His120=) rs1456005145
NM_001909.5(CTSD):c.369C>T (p.Tyr123=)
NM_001909.5(CTSD):c.370A>G (p.Asn124Asp) rs1590907227
NM_001909.5(CTSD):c.378C>A (p.Asp126Glu)
NM_001909.5(CTSD):c.380A>G (p.Lys127Arg)
NM_001909.5(CTSD):c.384C>T (p.Ser128=)
NM_001909.5(CTSD):c.390C>T (p.Thr130=)
NM_001909.5(CTSD):c.394G>A (p.Val132Met) rs770820791
NM_001909.5(CTSD):c.396G>A (p.Val132=) rs2133663597
NM_001909.5(CTSD):c.407C>T (p.Thr136Ile)
NM_001909.5(CTSD):c.409T>A (p.Ser137Thr) rs1845842497
NM_001909.5(CTSD):c.420C>T (p.Ile140=)
NM_001909.5(CTSD):c.429C>T (p.Gly143=) rs755085691
NM_001909.5(CTSD):c.431C>G (p.Ser144Trp) rs754147413
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.443C>T (p.Ser148Phe) rs796052402
NM_001909.5(CTSD):c.445G>A (p.Gly149Arg) rs762336399
NM_001909.5(CTSD):c.446G>T (p.Gly149Val) rs797045137
NM_001909.5(CTSD):c.455G>C (p.Ser152Thr)
NM_001909.5(CTSD):c.457C>A (p.Gln153Lys)
NM_001909.5(CTSD):c.457C>T (p.Gln153Ter)
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.465dup (p.Val156fs)
NM_001909.5(CTSD):c.468G>A (p.Val156=)
NM_001909.5(CTSD):c.468_469del (p.Ser157fs)
NM_001909.5(CTSD):c.471+17C>A
NM_001909.5(CTSD):c.471+6T>G rs2133663481
NM_001909.5(CTSD):c.471+8C>T
NM_001909.5(CTSD):c.472-16_472-15del
NM_001909.5(CTSD):c.472-17T>G
NM_001909.5(CTSD):c.472-199C>T rs72850958
NM_001909.5(CTSD):c.472-19A>C rs2133662179
NM_001909.5(CTSD):c.472-20G>C
NM_001909.5(CTSD):c.472-6C>A
NM_001909.5(CTSD):c.472G>A (p.Val158Met)
NM_001909.5(CTSD):c.474G>C (p.Val158=)
NM_001909.5(CTSD):c.478T>C (p.Cys160Arg) rs1845825044
NM_001909.5(CTSD):c.489G>T (p.Ala163=)
NM_001909.5(CTSD):c.493T>A (p.Ser165Thr)
NM_001909.5(CTSD):c.495A>G (p.Ser165=)
NM_001909.5(CTSD):c.496G>A (p.Ala166Thr)
NM_001909.5(CTSD):c.497C>T (p.Ala166Val) rs796052396
NM_001909.5(CTSD):c.498C>T (p.Ala166=)
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.507G>A (p.Leu169=)
NM_001909.5(CTSD):c.507G>C (p.Leu169=)
NM_001909.5(CTSD):c.508G>A (p.Gly170Ser)
NM_001909.5(CTSD):c.509G>A (p.Gly170Asp) rs1845824451
NM_001909.5(CTSD):c.51del (p.Ala18fs)
NM_001909.5(CTSD):c.52G>C (p.Ala18Pro) rs796052403
NM_001909.5(CTSD):c.537T>C (p.Phe179=) rs11555045
NM_001909.5(CTSD):c.550A>T (p.Lys184Ter)
NM_001909.5(CTSD):c.555G>T (p.Gln185His)
NM_001909.5(CTSD):c.558A>C (p.Pro186=)
NM_001909.5(CTSD):c.561C>T (p.Gly187=) rs796052405
NM_001909.5(CTSD):c.566C>T (p.Thr189Ile) rs1554962634
NM_001909.5(CTSD):c.570C>T (p.Phe190=) rs1325097000
NM_001909.5(CTSD):c.571A>G (p.Ile191Val) rs750166391
NM_001909.5(CTSD):c.573C>T (p.Ile191=)
NM_001909.5(CTSD):c.574G>A (p.Ala192Thr) rs767282477
NM_001909.5(CTSD):c.585C>T (p.Phe195=)
NM_001909.5(CTSD):c.586G>A (p.Asp196Asn) rs1388675826
NM_001909.5(CTSD):c.594C>T (p.Ile198=)
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.621C>T (p.Ser207=) rs367978332
NM_001909.5(CTSD):c.627_628del (p.Asn209fs)
NM_001909.5(CTSD):c.633G>C (p.Val211=) rs1565021103
NM_001909.5(CTSD):c.634C>T (p.Leu212=)
NM_001909.5(CTSD):c.639C>A (p.Pro213=) rs146073498
NM_001909.5(CTSD):c.639C>T (p.Pro213=) rs146073498
NM_001909.5(CTSD):c.63C>G (p.Leu21=) rs1021613206
NM_001909.5(CTSD):c.642C>T (p.Val214=)
NM_001909.5(CTSD):c.645C>T (p.Phe215=)
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.653T>C (p.Leu218Pro) rs1131691905
NM_001909.5(CTSD):c.654G>T (p.Leu218=)
NM_001909.5(CTSD):c.657G>T (p.Met219Ile)
NM_001909.5(CTSD):c.658C>T (p.Gln220Ter)
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.666G>A (p.Lys222=) rs2133661919
NM_001909.5(CTSD):c.669G>A (p.Leu223=)
NM_001909.5(CTSD):c.670G>A (p.Val224Met)
NM_001909.5(CTSD):c.671T>A (p.Val224Glu)
NM_001909.5(CTSD):c.672G>A (p.Val224=)
NM_001909.5(CTSD):c.675_704+1dup
NM_001909.5(CTSD):c.68+10C>G rs760082760
NM_001909.5(CTSD):c.68+11_68+12del
NM_001909.5(CTSD):c.68+16C>T
NM_001909.5(CTSD):c.68+18G>A
NM_001909.5(CTSD):c.68+19G>A
NM_001909.5(CTSD):c.68+19G>C
NM_001909.5(CTSD):c.68+1G>A
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.696C>T (p.Tyr232=)
NM_001909.5(CTSD):c.704+10T>C
NM_001909.5(CTSD):c.704+11G>A
NM_001909.5(CTSD):c.704+17C>T
NM_001909.5(CTSD):c.704+19T>C
NM_001909.5(CTSD):c.704+1G>T
NM_001909.5(CTSD):c.704+58G>A rs56363318
NM_001909.5(CTSD):c.704+5G>A rs1064796905
NM_001909.5(CTSD):c.704+5del
NM_001909.5(CTSD):c.704+6C>A rs370847523
NM_001909.5(CTSD):c.704+7G>A rs748547852
NM_001909.5(CTSD):c.704+7G>T
NM_001909.5(CTSD):c.704+9G>C rs2133661868
NM_001909.5(CTSD):c.704+9G>T
NM_001909.5(CTSD):c.705-15C>T
NM_001909.5(CTSD):c.705-21A>T rs2292964
NM_001909.5(CTSD):c.705-3T>G rs112817417
NM_001909.5(CTSD):c.705-63_705-11del rs2133660021
NM_001909.5(CTSD):c.705-7C>T
NM_001909.5(CTSD):c.708C>T (p.Asp236=)
NM_001909.5(CTSD):c.717G>C (p.Ala239=)
NM_001909.5(CTSD):c.717G>T (p.Ala239=)
NM_001909.5(CTSD):c.718C>T (p.Gln240Ter)
NM_001909.5(CTSD):c.725G>T (p.Gly242Val)
NM_001909.5(CTSD):c.728del (p.Gly243fs)
NM_001909.5(CTSD):c.733C>T (p.Leu245=)
NM_001909.5(CTSD):c.741G>C (p.Leu247=)
NM_001909.5(CTSD):c.753C>T (p.Asp251=) rs2133659952
NM_001909.5(CTSD):c.756C>T (p.Ser252=)
NM_001909.5(CTSD):c.756dup (p.Lys253fs)
NM_001909.5(CTSD):c.759G>A (p.Lys253=) rs2133659945
NM_001909.5(CTSD):c.764dup (p.Tyr255Ter) rs786205105
NM_001909.5(CTSD):c.767A>G (p.Lys256Arg)
NM_001909.5(CTSD):c.768G>A (p.Lys256=)
NM_001909.5(CTSD):c.770G>C (p.Gly257Ala) rs1057518289
NM_001909.5(CTSD):c.775C>T (p.Leu259=)
NM_001909.5(CTSD):c.780C>G (p.Ser260=)
NM_001909.5(CTSD):c.780C>T (p.Ser260=) rs1404000220
NM_001909.5(CTSD):c.795C>T (p.Thr265=)
NM_001909.5(CTSD):c.797G>A (p.Arg266His)
NM_001909.5(CTSD):c.799A>C (p.Lys267Gln) rs749091423
NM_001909.5(CTSD):c.804C>T (p.Ala268=)
NM_001909.5(CTSD):c.816C>A (p.Val272=) rs1554962441
NM_001909.5(CTSD):c.816C>T (p.Val272=)
NM_001909.5(CTSD):c.824_827+30del rs2133659840
NM_001909.5(CTSD):c.827+111del rs55725229
NM_001909.5(CTSD):c.827+14_827+15delinsTT rs2133659869
NM_001909.5(CTSD):c.827+17G>A
NM_001909.5(CTSD):c.827+17G>C
NM_001909.5(CTSD):c.827+19del
NM_001909.5(CTSD):c.827+20G>T rs763211820
NM_001909.5(CTSD):c.827+2T>C rs1845791308
NM_001909.5(CTSD):c.827+5G>A
NM_001909.5(CTSD):c.828-15C>G
NM_001909.5(CTSD):c.828-16C>T
NM_001909.5(CTSD):c.828-19_828-18delinsCT
NM_001909.5(CTSD):c.828-20C>T
NM_001909.5(CTSD):c.828-247_828-221del rs1219998189
NM_001909.5(CTSD):c.828-2A>C
NM_001909.5(CTSD):c.828-3C>A
NM_001909.5(CTSD):c.828-6C>G rs1222306629
NM_001909.5(CTSD):c.828-7C>T
NM_001909.5(CTSD):c.828-8C>T
NM_001909.5(CTSD):c.828-9T>G
NM_001909.5(CTSD):c.829G>T (p.Val277Leu)
NM_001909.5(CTSD):c.831G>A (p.Val277=) rs764812657
NM_001909.5(CTSD):c.832G>C (p.Glu278Gln) rs1402574017
NM_001909.5(CTSD):c.832G>T (p.Glu278Ter)
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.849G>A (p.Leu283=) rs1014674908
NM_001909.5(CTSD):c.851C>G (p.Thr284Ser)
NM_001909.5(CTSD):c.853del (p.Leu285fs)
NM_001909.5(CTSD):c.863A>G (p.Glu288Gly)
NM_001909.5(CTSD):c.867C>T (p.Gly289=) rs1200494428
NM_001909.5(CTSD):c.873G>A (p.Glu291=)
NM_001909.5(CTSD):c.877A>C (p.Ile293Leu) rs748185051
NM_001909.5(CTSD):c.879T>A (p.Ile293=)
NM_001909.5(CTSD):c.885C>T (p.Asp295=)
NM_001909.5(CTSD):c.887C>G (p.Thr296Arg)
NM_001909.5(CTSD):c.888A>C (p.Thr296=)
NM_001909.5(CTSD):c.894T>G (p.Thr298=)
NM_001909.5(CTSD):c.897C>A (p.Ser299=)
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.908del (p.Gly303fs) rs2133657906
NM_001909.5(CTSD):c.909C>T (p.Gly303=)
NM_001909.5(CTSD):c.914_947del (p.Val305fs)
NM_001909.5(CTSD):c.918T>C (p.Asp306=) rs2133657880
NM_001909.5(CTSD):c.918T>G (p.Asp306Glu)
NM_001909.5(CTSD):c.924G>A (p.Val308=) rs1554962286
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.942C>T (p.Ala314=)
NM_001909.5(CTSD):c.949del (p.Ala317fs) rs2133657826
NM_001909.5(CTSD):c.952G>A (p.Val318Met)
NM_001909.5(CTSD):c.952del (p.Val318fs)
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+10_972+15del
NM_001909.5(CTSD):c.972+10_972+15dup
NM_001909.5(CTSD):c.972+12G>A
NM_001909.5(CTSD):c.972+13G>A
NM_001909.5(CTSD):c.972+14G>A rs752075136
NM_001909.5(CTSD):c.972+14G>C rs752075136
NM_001909.5(CTSD):c.972+14G>T
NM_001909.5(CTSD):c.972+15C>A
NM_001909.5(CTSD):c.972+15C>T
NM_001909.5(CTSD):c.972+18G>A
NM_001909.5(CTSD):c.972+1G>C
NM_001909.5(CTSD):c.972+4A>G rs2133657784
NM_001909.5(CTSD):c.972+4_972+5dup rs1386489811
NM_001909.5(CTSD):c.972+7G>C
NM_001909.5(CTSD):c.972+9C>G rs746243061
NM_001909.5(CTSD):c.973-12G>A
NM_001909.5(CTSD):c.973-12G>C
NM_001909.5(CTSD):c.973-13T>C
NM_001909.5(CTSD):c.973-15T>C
NM_001909.5(CTSD):c.973-18T>G
NM_001909.5(CTSD):c.973-20A>G
NM_001909.5(CTSD):c.973-7C>T
NM_001909.5(CTSD):c.973-8C>A rs886048064
NM_001909.5(CTSD):c.973-9C>T
NM_001909.5(CTSD):c.976A>G (p.Met326Val) rs1425884068
NM_001909.5(CTSD):c.977T>A (p.Met326Lys)
NM_001909.5(CTSD):c.977T>C (p.Met326Thr) rs1565018786
NM_001909.5(CTSD):c.982C>T (p.Pro328Ser) rs796052397
NM_001909.5(CTSD):c.984_985del (p.Pro328_Cys329insTer)
NM_001909.5(CTSD):c.993G>C (p.Lys331Asn) rs1181418072
NM_001909.5(CTSD):c.996G>T (p.Val332=)
NM_001909.5(CTSD):c.999C>A (p.Ser333=) rs755867394
NM_001909.5(CTSD):c.999C>T (p.Ser333=)

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