NM_001909.5(CTSD):c.465T>C (p.Thr155=)
|
rs11555039
|
0.08387
|
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.828-17G>A
|
rs78735768
|
0.05315
|
NM_001909.5(CTSD):c.1215C>A (p.Gly405=)
|
rs138733377
|
0.01277
|
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg)
|
rs147278302
|
0.00650
|
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.828-19A>C
|
rs200047861
|
0.00494
|
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.951C>T (p.Ala317=)
|
rs78306946
|
0.00211
|
NM_001909.5(CTSD):c.639C>G (p.Pro213=)
|
rs146073498
|
0.00197
|
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.1071+7G>A
|
rs374010531
|
0.00029
|
NM_001909.5(CTSD):c.1009G>A (p.Ala337Thr)
|
rs147800688
|
0.00025
|
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.758A>G (p.Lys253Arg)
|
rs138191189
|
0.00014
|
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.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.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.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.1062C>T (p.Tyr354=)
|
rs764106396
|
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.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.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.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.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.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.993G>A (p.Lys331=)
|
rs1181418072
|
0.00001
|
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_001909.5(CTSD):c.1002C>T (p.Thr334=)
|
|
|
NM_001909.5(CTSD):c.1009G>T (p.Ala337Ser)
|
rs147800688
|
|
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.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.1072-5C>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.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.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.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.229-12G>A
|
rs767539066
|
|
NM_001909.5(CTSD):c.229-12G>C
|
|
|
NM_001909.5(CTSD):c.229-18del
|
|
|
NM_001909.5(CTSD):c.229-8C>T
|
|
|
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.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.318C>T (p.Pro106=)
|
rs1845849397
|
|
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.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>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.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.472-19A>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.497C>T (p.Ala166Val)
|
rs796052396
|
|
NM_001909.5(CTSD):c.498C>T (p.Ala166=)
|
|
|
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.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.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.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.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+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.705-63_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=)
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|
|
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.767A>G (p.Lys256Arg)
|
|
|
NM_001909.5(CTSD):c.768G>A (p.Lys256=)
|
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|
NM_001909.5(CTSD):c.775C>T (p.Leu259=)
|
|
|
NM_001909.5(CTSD):c.780C>G (p.Ser260=)
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|
|
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)
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|
|
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+14_827+15delinsTT
|
rs2133659869
|
|
NM_001909.5(CTSD):c.827+17G>A
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|
|
NM_001909.5(CTSD):c.827+17G>C
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|
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
|
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|
NM_001909.5(CTSD):c.828-19_828-18delinsCT
|
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|
NM_001909.5(CTSD):c.828-20C>T
|
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|
NM_001909.5(CTSD):c.828-2A>C
|
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|
NM_001909.5(CTSD):c.828-3C>A
|
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|
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
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|
|
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.873G>A (p.Glu291=)
|
|
|
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.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.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.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=)
|
|
|