NM_004937.3(CTNS):c.*738T>G
|
rs224562
|
0.99537
|
NM_004937.3(CTNS):c.329+22C>G
|
rs459613
|
0.88549
|
NM_004937.3(CTNS):c.779C>T (p.Thr260Ile)
|
rs161400
|
0.84806
|
NM_004937.3(CTNS):c.*2383dup
|
rs397702352
|
0.82623
|
NM_004937.3(CTNS):c.*2306T>C
|
rs161397
|
0.71652
|
NM_004937.3(CTNS):c.*1440A>G
|
rs161398
|
0.67203
|
NM_004937.3(CTNS):c.461+52G>A
|
rs467277
|
0.51389
|
NM_004937.3(CTNS):c.461+49A>G
|
rs457419
|
0.35954
|
NM_004937.3(CTNS):c.141-103G>A
|
rs222778
|
0.35912
|
NM_004937.3(CTNS):c.970+70C>T
|
rs222753
|
0.34692
|
NM_004937.3(CTNS):c.*737T>A
|
rs222754
|
0.24184
|
NM_004937.3(CTNS):c.*405G>A
|
rs760273
|
0.21386
|
NM_004937.3(CTNS):c.*555T>C
|
rs1048646
|
0.19518
|
NM_004937.3(CTNS):c.*572A>G
|
rs3826493
|
0.19518
|
NM_004937.3(CTNS):c.*627T>C
|
rs1048647
|
0.19492
|
NM_004937.3(CTNS):c.*631T>C
|
rs1048648
|
0.19488
|
NM_004937.3(CTNS):c.*300C>G
|
rs2873624
|
0.19455
|
NM_004937.3(CTNS):c.*715C>T
|
rs1048649
|
0.19427
|
NM_004937.3(CTNS):c.*421T>C
|
rs760274
|
0.19404
|
NM_004937.3(CTNS):c.*410A>G
|
rs3826496
|
0.19387
|
NM_004937.3(CTNS):c.*1025A>G
|
rs1048674
|
0.19022
|
NM_004937.3(CTNS):c.*1024C>T
|
rs1048673
|
0.19015
|
NM_004937.3(CTNS):c.*1031_*1033dup
|
rs1355863772
|
0.18984
|
NM_004937.3(CTNS):c.*1116C>T
|
rs1048682
|
0.18891
|
NM_004937.3(CTNS):c.*1053T>G
|
rs1048677
|
0.18814
|
NM_004937.3(CTNS):c.*1152A>G
|
rs2235104
|
0.18705
|
NM_004937.3(CTNS):c.461+54G>A
|
rs12938401
|
0.15247
|
NM_004937.3(CTNS):c.504G>A (p.Thr168=)
|
rs1800528
|
0.14800
|
NM_004937.3(CTNS):c.*527G>A
|
rs79668190
|
0.06278
|
NM_004937.3(CTNS):c.462T>C (p.Ser154=)
|
rs77453839
|
0.05257
|
NM_004937.3(CTNS):c.*1665A>G
|
rs112317698
|
0.04756
|
NM_004937.3(CTNS):c.*1866C>T
|
rs111430685
|
0.03936
|
NM_004937.3(CTNS):c.*1633C>G
|
rs112032534
|
0.03822
|
NM_004937.3(CTNS):c.*1595C>T
|
rs112299490
|
0.03812
|
NM_004937.3(CTNS):c.*2115G>A
|
rs77196744
|
0.03574
|
NM_004937.3(CTNS):c.970+15G>A
|
rs76153698
|
0.03340
|
NM_004937.3(CTNS):c.-230+11A>G
|
rs116000219
|
0.03310
|
NM_004937.3(CTNS):c.*1578C>G
|
rs142813435
|
0.02513
|
NM_004937.3(CTNS):c.124G>A (p.Val42Ile)
|
rs35086888
|
0.01867
|
NM_004937.3(CTNS):c.*851G>A
|
rs75192283
|
0.01649
|
NM_004937.3(CTNS):c.*1669C>T
|
rs117079843
|
0.01548
|
NM_004937.3(CTNS):c.-635G>C
|
rs112140949
|
0.01378
|
NM_004937.3(CTNS):c.*2127G>A
|
rs72835828
|
0.01197
|
NM_004937.3(CTNS):c.*2012C>T
|
rs138871128
|
0.00686
|
NM_004937.3(CTNS):c.108C>T (p.Asn36=)
|
rs117404824
|
0.00664
|
NM_004937.3(CTNS):c.*1206T>C
|
rs115239409
|
0.00577
|
NM_004937.3(CTNS):c.*1165C>T
|
rs112915401
|
0.00534
|
NM_004937.3(CTNS):c.*2132G>A
|
rs74485511
|
0.00447
|
NM_004937.3(CTNS):c.*2119G>T
|
rs80249487
|
0.00388
|
NM_004937.3(CTNS):c.*1117G>A
|
rs78833685
|
0.00271
|
NM_004937.3(CTNS):c.-258G>A
|
rs559229383
|
0.00259
|
NM_004937.3(CTNS):c.462-7C>A
|
rs189632527
|
0.00259
|
NM_004937.3(CTNS):c.116C>T (p.Ser39Leu)
|
rs144751390
|
0.00219
|
NM_004937.3(CTNS):c.*942C>T
|
rs140127855
|
0.00207
|
NM_004937.3(CTNS):c.*835A>C
|
rs57765820
|
0.00198
|
NM_004937.3(CTNS):c.*1366C>G
|
rs558637146
|
0.00086
|
NM_004937.3(CTNS):c.*1899G>A
|
rs563849197
|
0.00072
|
NM_004937.3(CTNS):c.695G>A (p.Arg232His)
|
rs142641674
|
0.00072
|
NM_004937.3(CTNS):c.970G>A (p.Asp324Asn)
|
rs140326392
|
0.00072
|
NM_004937.3(CTNS):c.*2082C>T
|
rs182280281
|
0.00044
|
NM_004937.3(CTNS):c.853-15G>A
|
rs376050426
|
0.00043
|
NM_004937.3(CTNS):c.561+4C>T
|
rs111256750
|
0.00040
|
NM_004937.3(CTNS):c.*469G>A
|
rs150501484
|
0.00036
|
NM_004937.3(CTNS):c.94G>A (p.Val32Ile)
|
rs146684402
|
0.00036
|
NM_004937.3(CTNS):c.661G>A (p.Val221Met)
|
rs138270433
|
0.00029
|
NM_004937.3(CTNS):c.*262G>A
|
rs201647994
|
0.00026
|
NM_004937.3(CTNS):c.*1659C>T
|
rs778764728
|
0.00024
|
NM_004937.3(CTNS):c.444G>A (p.Met148Ile)
|
rs199977728
|
0.00023
|
NM_004937.3(CTNS):c.*129C>T
|
rs746209035
|
0.00021
|
NM_004937.3(CTNS):c.*431C>T
|
rs886052868
|
0.00019
|
NM_004937.3(CTNS):c.332C>T (p.Pro111Leu)
|
rs149689304
|
0.00014
|
NM_004937.3(CTNS):c.480C>T (p.Phe160=)
|
rs147565118
|
0.00012
|
NM_004937.3(CTNS):c.694C>T (p.Arg232Cys)
|
rs138823792
|
0.00011
|
NM_004937.3(CTNS):c.*55C>G
|
rs751680506
|
0.00010
|
NM_004937.3(CTNS):c.414G>A (p.Trp138Ter)
|
rs113994205
|
0.00010
|
NM_004937.3(CTNS):c.*1176C>G
|
rs553878990
|
0.00009
|
NM_004937.3(CTNS):c.*2036G>A
|
rs184828971
|
0.00009
|
NM_004937.3(CTNS):c.356G>A (p.Arg119His)
|
rs375970075
|
0.00008
|
NM_004937.3(CTNS):c.*2377G>A
|
rs543014932
|
0.00007
|
NM_004937.3(CTNS):c.-20+13T>C
|
rs780032861
|
0.00007
|
NM_004937.3(CTNS):c.*1336G>A
|
rs541263497
|
0.00006
|
NM_004937.3(CTNS):c.*1874G>A
|
rs886052880
|
0.00006
|
NM_004937.3(CTNS):c.*1331G>A
|
rs555688774
|
0.00005
|
NM_004937.3(CTNS):c.*1383C>T
|
rs886052877
|
0.00005
|
NM_004937.3(CTNS):c.*2020T>C
|
rs543577418
|
0.00005
|
NM_004937.3(CTNS):c.*657A>G
|
rs970677281
|
0.00005
|
NM_004937.3(CTNS):c.285A>T (p.Gly95=)
|
rs373998956
|
0.00005
|
NM_004937.3(CTNS):c.*1680G>A
|
rs572393960
|
0.00004
|
NM_004937.3(CTNS):c.*2477C>G
|
rs781672689
|
0.00004
|
NM_004937.3(CTNS):c.1015G>A (p.Gly339Arg)
|
rs121908127
|
0.00004
|
NM_004937.3(CTNS):c.1083G>A (p.Pro361=)
|
rs371189196
|
0.00004
|
NM_004937.3(CTNS):c.262C>A (p.Gln88Lys)
|
rs113875421
|
0.00004
|
NM_004937.3(CTNS):c.407T>G (p.Val136Gly)
|
rs764372178
|
0.00004
|
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro)
|
rs113994206
|
0.00004
|
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg)
|
rs113994207
|
0.00004
|
NM_004937.3(CTNS):c.730G>A (p.Ala244Thr)
|
rs559490847
|
0.00004
|
NM_004937.3(CTNS):c.*1249C>T
|
rs886052876
|
0.00003
|
NM_004937.3(CTNS):c.*1397C>T
|
rs886052878
|
0.00003
|
NM_004937.3(CTNS):c.*1502C>G
|
rs377728246
|
0.00003
|
NM_004937.3(CTNS):c.*16T>C
|
rs201198798
|
0.00003
|
NM_004937.3(CTNS):c.*1708A>G
|
rs867189674
|
0.00003
|
NM_004937.3(CTNS):c.*180C>T
|
rs552754402
|
0.00003
|
NM_004937.3(CTNS):c.*2195G>A
|
rs886052883
|
0.00003
|
NM_004937.3(CTNS):c.*2492G>A
|
rs886052884
|
0.00003
|
NM_004937.3(CTNS):c.*280G>A
|
rs200771636
|
0.00003
|
NM_004937.3(CTNS):c.-47A>C
|
rs886052865
|
0.00003
|
NM_004937.3(CTNS):c.461+8C>T
|
rs368822078
|
0.00003
|
NM_004937.3(CTNS):c.*176G>A
|
rs200021713
|
0.00002
|
NM_004937.3(CTNS):c.*1889C>T
|
rs557935819
|
0.00002
|
NM_004937.3(CTNS):c.*206C>T
|
rs367951710
|
0.00002
|
NM_004937.3(CTNS):c.*2243G>A
|
rs897077378
|
0.00002
|
NM_004937.3(CTNS):c.*259C>T
|
rs771746416
|
0.00002
|
NM_004937.3(CTNS):c.*550G>A
|
rs920508760
|
0.00002
|
NM_004937.3(CTNS):c.187C>T (p.Arg63Cys)
|
rs555311279
|
0.00002
|
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del)
|
rs113994204
|
0.00002
|
NM_004937.3(CTNS):c.481G>A (p.Asp161Asn)
|
rs371533565
|
0.00002
|
NM_004937.3(CTNS):c.*1250G>A
|
rs960133187
|
0.00001
|
NM_004937.3(CTNS):c.*1472G>A
|
rs563539494
|
0.00001
|
NM_004937.3(CTNS):c.*1501T>C
|
rs886052879
|
0.00001
|
NM_004937.3(CTNS):c.*2139T>C
|
rs1180495360
|
0.00001
|
NM_004937.3(CTNS):c.*599T>C
|
rs1389727221
|
0.00001
|
NM_004937.3(CTNS):c.-24C>T
|
rs886052866
|
0.00001
|
NM_004937.3(CTNS):c.-8C>T
|
rs372701935
|
0.00001
|
NM_004937.3(CTNS):c.1008T>G (p.Phe336Leu)
|
rs762561354
|
0.00001
|
NM_004937.3(CTNS):c.1071C>T (p.Tyr357=)
|
rs1210146657
|
0.00001
|
NM_004937.3(CTNS):c.363C>T (p.Ser121=)
|
rs746463725
|
0.00001
|
NM_004937.3(CTNS):c.416C>T (p.Ser139Phe)
|
rs267606754
|
0.00001
|
NM_004937.3(CTNS):c.454C>T (p.Arg152Trp)
|
rs754433265
|
0.00001
|
NM_004937.3(CTNS):c.61+2T>C
|
rs767289120
|
0.00001
|
NM_004937.3(CTNS):c.613G>A (p.Asp205Asn)
|
rs113994208
|
0.00001
|
NM_004937.3(CTNS):c.646dup (p.Thr216fs)
|
rs893207601
|
0.00001
|
NM_004937.3(CTNS):c.681+1G>A
|
rs749317721
|
0.00001
|
NM_004937.3(CTNS):c.682C>T (p.Arg228Cys)
|
rs764538705
|
0.00001
|
NM_004937.3(CTNS):c.823G>A (p.Ala275Thr)
|
rs752869556
|
0.00001
|
NM_004937.3(CTNS):c.82G>C (p.Val28Leu)
|
rs759921102
|
0.00001
|
NM_004937.3(CTNS):c.922G>A (p.Gly308Arg)
|
rs746307931
|
0.00001
|
NM_004937.2(CTNS):c.-581A>T
|
rs1031783359
|
|
NM_004937.3(CTNS):c.*100G>T
|
rs2076259110
|
|
NM_004937.3(CTNS):c.*1024_*1030delinsTGAAGCTGTC
|
rs886052872
|
|
NM_004937.3(CTNS):c.*1033_*1034insGGC
|
rs397831765
|
|
NM_004937.3(CTNS):c.*1046_*1047dup
|
rs772764926
|
|
NM_004937.3(CTNS):c.*1047dup
|
rs772764926
|
|
NM_004937.3(CTNS):c.*1125C>T
|
rs886052874
|
|
NM_004937.3(CTNS):c.*1128G>A
|
rs115643745
|
|
NM_004937.3(CTNS):c.*1174CT[1]
|
rs397857879
|
|
NM_004937.3(CTNS):c.*1176_*1179del
|
rs886052875
|
|
NM_004937.3(CTNS):c.*1956_*1957del
|
rs397856854
|
|
NM_004937.3(CTNS):c.*1957del
|
rs397856854
|
|
NM_004937.3(CTNS):c.*1957dup
|
rs397856854
|
|
NM_004937.3(CTNS):c.*2059C>G
|
rs2076290375
|
|
NM_004937.3(CTNS):c.*577T>C
|
rs886052869
|
|
NM_004937.3(CTNS):c.*654G>T
|
rs886052870
|
|
NM_004937.3(CTNS):c.*847C>T
|
rs146131305
|
|
NM_004937.3(CTNS):c.*871G>C
|
rs886052871
|
|
NM_004937.3(CTNS):c.*983G>A
|
rs2076273486
|
|
NM_004937.3(CTNS):c.-136C>A
|
rs886052863
|
|
NM_004937.3(CTNS):c.-19-1G>A
|
rs1555558034
|
|
NM_004937.3(CTNS):c.-23AG[1]
|
rs550436044
|
|
NM_004937.3(CTNS):c.-272A>C
|
rs534368692
|
|
NM_004937.3(CTNS):c.-74A>T
|
rs886052864
|
|
NM_004937.3(CTNS):c.1024_1035del (p.Ser342_Phe345del)
|
rs745806090
|
|
NM_004937.3(CTNS):c.1036_1047del (p.Asp346_Phe349del)
|
|
|
NM_004937.3(CTNS):c.1039GTC[1] (p.Val348del)
|
rs1555564879
|
|
NM_004937.3(CTNS):c.1045T>G (p.Phe349Val)
|
rs748094459
|
|
NM_004937.3(CTNS):c.1062C>A (p.Phe354Leu)
|
rs762508287
|
|
NM_004937.3(CTNS):c.1075_1076del (p.Lys359fs)
|
rs779451531
|
|
NM_004937.3(CTNS):c.1102T>C (p.Ter368Gln)
|
rs1057517330
|
|
NM_004937.3(CTNS):c.120dup (p.Asn41fs)
|
|
|
NM_004937.3(CTNS):c.140+1G>C
|
|
|
NM_004937.3(CTNS):c.140+1_140+20del
|
|
|
NM_004937.3(CTNS):c.140+2T>C
|
rs2075872773
|
|
NM_004937.3(CTNS):c.15G>A (p.Trp5Ter)
|
|
|
NM_004937.3(CTNS):c.18_21del (p.Thr7fs)
|
rs786204501
|
|
NM_004937.3(CTNS):c.199_219del (p.Ile67_Pro73del)
|
rs786204550
|
|
NM_004937.3(CTNS):c.206_210del (p.Ile69fs)
|
rs879758262
|
|
NM_004937.3(CTNS):c.20del (p.Thr7fs)
|
rs1555558078
|
|
NM_004937.3(CTNS):c.225+1G>A
|
rs1555561049
|
|
NM_004937.3(CTNS):c.225+3A>T
|
|
|
NM_004937.3(CTNS):c.225+5_225+6delinsCC
|
rs786204541
|
|
NM_004937.3(CTNS):c.225+5_225+7dup
|
rs1555561050
|
|
NM_004937.3(CTNS):c.225+5_225+8del
|
rs1555561048
|
|
NM_004937.3(CTNS):c.226-1G>A
|
|
|
NM_004937.3(CTNS):c.251del (p.Asn84fs)
|
rs1057516296
|
|
NM_004937.3(CTNS):c.257_258del (p.Ser86fs)
|
rs879255614
|
|
NM_004937.3(CTNS):c.283G>T (p.Gly95Ter)
|
rs121908124
|
|
NM_004937.3(CTNS):c.292dup (p.Thr98fs)
|
rs786204434
|
|
NM_004937.3(CTNS):c.306T>C (p.His102=)
|
rs2076094603
|
|
NM_004937.3(CTNS):c.314_317del (p.His105fs)
|
|
|
NM_004937.3(CTNS):c.320_323del (p.Asn107fs)
|
rs1555562830
|
|
NM_004937.3(CTNS):c.323del (p.Gln108fs)
|
rs879255615
|
|
NM_004937.3(CTNS):c.329+2T>C
|
rs955833453
|
|
NM_004937.3(CTNS):c.382C>T (p.Gln128Ter)
|
rs550254092
|
|
NM_004937.3(CTNS):c.395G>A (p.Trp132Ter)
|
|
|
NM_004937.3(CTNS):c.40del (p.Pro13_Leu14insTer)
|
rs1555558099
|
|
NM_004937.3(CTNS):c.422C>T (p.Ser141Phe)
|
rs1436441738
|
|
NM_004937.3(CTNS):c.425_427del (p.Phe142del)
|
rs1178364162
|
|
NM_004937.3(CTNS):c.429C>A (p.Tyr143Ter)
|
rs1597647930
|
|
NM_004937.3(CTNS):c.451A>G (p.Arg151Gly)
|
rs1555563010
|
|
NM_004937.3(CTNS):c.462-1G>A
|
|
|
NM_004937.3(CTNS):c.462-27_462-3del
|
rs1555563374
|
|
NM_004937.3(CTNS):c.479del (p.Phe160fs)
|
rs2076150607
|
|
NM_004937.3(CTNS):c.506G>A (p.Gly169Asp)
|
rs121908126
|
|
NM_004937.3(CTNS):c.518A>G (p.Tyr173Cys)
|
rs1555563446
|
|
NM_004937.3(CTNS):c.519_520del (p.Tyr173_Ser174delinsTer)
|
rs745365232
|
|
NM_004937.3(CTNS):c.530A>G (p.Asn177Ser)
|
|
|
NM_004937.3(CTNS):c.534C>A (p.Ile178=)
|
rs113967200
|
|
NM_004937.3(CTNS):c.546G>A (p.Trp182Ter)
|
|
|
NM_004937.3(CTNS):c.559_561+24del
|
rs113994211
|
|
NM_004937.3(CTNS):c.561+1del
|
rs786204667
|
|
NM_004937.3(CTNS):c.562-2A>G
|
|
|
NM_004937.3(CTNS):c.562-2_562-1del
|
rs1555563521
|
|
NM_004937.3(CTNS):c.565C>T (p.Gln189Ter)
|
rs1597654770
|
|
NM_004937.3(CTNS):c.592del (p.Gly197_Val198insTer)
|
rs1555563568
|
|
NM_004937.3(CTNS):c.600del (p.Pro200_Val201insTer)
|
|
|
NM_004937.3(CTNS):c.60_61del (p.Cys20_Glu21delinsTer)
|
rs1567695026
|
|
NM_004937.3(CTNS):c.61+1G>A
|
rs1555558116
|
|
NM_004937.3(CTNS):c.61+5G>A
|
rs1407498555
|
|
NM_004937.3(CTNS):c.611ACG[1] (p.Asp205del)
|
rs760256854
|
|
NM_004937.3(CTNS):c.619TTC[1] (p.Phe208del)
|
rs1555563619
|
|
NM_004937.3(CTNS):c.61G>T (p.Glu21Ter)
|
rs2150889009
|
|
NM_004937.3(CTNS):c.61_61+2del
|
rs2075652654
|
|
NM_004937.3(CTNS):c.62-2864_225+2278del
|
|
|
NM_004937.3(CTNS):c.62-2A>G
|
rs1555560637
|
|
NM_004937.3(CTNS):c.646_647insAA (p.Thr216fs)
|
|
|
NM_004937.3(CTNS):c.681+1del
|
rs1555563658
|
|
NM_004937.3(CTNS):c.681+2T>C
|
rs1057516723
|
|
NM_004937.3(CTNS):c.681+8del
|
rs2150923282
|
|
NM_004937.3(CTNS):c.681G>A (p.Glu227=)
|
rs778414542
|
|
NM_004937.3(CTNS):c.682-1G>A
|
rs1057516771
|
|
NM_004937.3(CTNS):c.682-1G>T
|
rs1057516771
|
|
NM_004937.3(CTNS):c.684_686dup (p.Gly230dup)
|
rs1555563962
|
|
NM_004937.3(CTNS):c.696_697dup (p.Val233fs)
|
rs1555563982
|
|
NM_004937.3(CTNS):c.696dup (p.Val233fs)
|
rs113994209
|
|
NM_004937.3(CTNS):c.699G>A (p.Val233=)
|
rs2076195866
|
|
NM_004937.3(CTNS):c.699_700del (p.Ser234fs)
|
rs766981777
|
|
NM_004937.3(CTNS):c.734G>A (p.Trp245Ter)
|
rs763089013
|
|
NM_004937.3(CTNS):c.73A>T (p.Ser25Cys)
|
rs777367316
|
|
NM_004937.3(CTNS):c.751_752del (p.Thr251fs)
|
|
|
NM_004937.3(CTNS):c.768dup (p.Val257fs)
|
rs1567713938
|
|
NM_004937.3(CTNS):c.771_793del (p.Gly258fs)
|
rs759623796
|
|
NM_004937.3(CTNS):c.782C>G (p.Thr261Arg)
|
rs370257007
|
|
NM_004937.3(CTNS):c.809_811del (p.Ser270del)
|
rs786204632
|
|
NM_004937.3(CTNS):c.814_818delinsT (p.Ile272fs)
|
|
|
NM_004937.3(CTNS):c.829dup (p.Thr277fs)
|
rs752919200
|
|
NM_004937.3(CTNS):c.838A>C (p.Lys280Gln)
|
rs2076200184
|
|
NM_004937.3(CTNS):c.839A>C (p.Lys280Thr)
|
rs2150925451
|
|
NM_004937.3(CTNS):c.839A>G (p.Lys280Arg)
|
rs2150925451
|
|
NM_004937.3(CTNS):c.853-1G>A
|
rs1555564588
|
|
NM_004937.3(CTNS):c.853-2A>G
|
rs1475322504
|
|
NM_004937.3(CTNS):c.853-3C>T
|
rs113994210
|
|
NM_004937.3(CTNS):c.864C>A (p.Asn288Lys)
|
|
|
NM_004937.3(CTNS):c.869dup (p.Tyr290Ter)
|
rs1555564600
|
|
NM_004937.3(CTNS):c.870C>G (p.Tyr290Ter)
|
rs776842972
|
|
NM_004937.3(CTNS):c.877dup (p.Ser293fs)
|
|
|
NM_004937.3(CTNS):c.890G>A (p.Trp297Ter)
|
rs917630768
|
|
NM_004937.3(CTNS):c.914A>G (p.Asp305Gly)
|
rs1263951539
|
|
NM_004937.3(CTNS):c.916T>A (p.Phe306Ile)
|
rs912184981
|
|
NM_004937.3(CTNS):c.926dup (p.Ser310fs)
|
rs786204420
|
|
NM_004937.3(CTNS):c.944A>G (p.Gln315Arg)
|
rs1064795587
|
|
NM_004937.3(CTNS):c.955C>T (p.Gln319Ter)
|
|
|
NM_004937.3(CTNS):c.963del (p.Ser320_Tyr321insTer)
|
|
|
NM_004937.3(CTNS):c.969C>G (p.Asn323Lys)
|
rs121908128
|
|
NM_004937.3(CTNS):c.971-12G>A
|
rs375952052
|
|
NM_004937.3(CTNS):c.971-1G>C
|
rs2142982540
|
|
NM_004937.3(CTNS):c.971-1dup
|
rs1555564823
|
|
NM_004937.3(CTNS):c.971-2dup
|
|
|
NM_004937.3(CTNS):c.977G>A (p.Trp326Ter)
|
|
|