NM_004937.3(CTNS):c.*1053T>G
|
rs1048677
|
0.18814
|
NM_004937.3(CTNS):c.-258G>A
|
rs559229383
|
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
|
0.00105
|
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.*431C>T
|
rs886052868
|
0.00034
|
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.697G>A (p.Val233Met)
|
rs201058200
|
0.00018
|
NM_004937.3(CTNS):c.833T>C (p.Leu278Pro)
|
rs1314998853
|
0.00015
|
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.*1176C>G
|
rs553878990
|
0.00009
|
NM_004937.3(CTNS):c.*1874G>A
|
rs886052880
|
0.00009
|
NM_004937.3(CTNS):c.*2036G>A
|
rs184828971
|
0.00009
|
NM_004937.3(CTNS):c.556A>C (p.Ile186Leu)
|
rs548772179
|
0.00009
|
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.80C>A (p.Thr27Asn)
|
rs576315457
|
0.00007
|
NM_004937.3(CTNS):c.*1336G>A
|
rs541263497
|
0.00006
|
NM_004937.3(CTNS):c.830C>T (p.Thr277Met)
|
rs757009591
|
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.139C>T (p.Arg47Trp)
|
rs201153770
|
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.*280G>A
|
rs200771636
|
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.510C>T (p.Phe170=)
|
rs747488464
|
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.*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.*2492G>A
|
rs886052884
|
0.00003
|
NM_004937.3(CTNS):c.-47A>C
|
rs886052865
|
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.*2195G>A
|
rs886052883
|
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.481G>A (p.Asp161Asn)
|
rs371533565
|
0.00002
|
NM_004937.3(CTNS):c.*1250G>A
|
rs960133187
|
0.00001
|
NM_004937.3(CTNS):c.*1397C>T
|
rs886052878
|
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.140+3A>G
|
rs778641729
|
0.00001
|
NM_004937.3(CTNS):c.140G>A (p.Arg47Gln)
|
rs745744798
|
0.00001
|
NM_004937.3(CTNS):c.355C>T (p.Arg119Cys)
|
rs771990787
|
0.00001
|
NM_004937.3(CTNS):c.363C>T (p.Ser121=)
|
rs746463725
|
0.00001
|
NM_004937.3(CTNS):c.367A>G (p.Ile123Val)
|
rs776104111
|
0.00001
|
NM_004937.3(CTNS):c.386T>A (p.Val129Glu)
|
rs1009882965
|
0.00001
|
NM_004937.3(CTNS):c.442A>T (p.Met148Leu)
|
rs779895948
|
0.00001
|
NM_004937.3(CTNS):c.454C>T (p.Arg152Trp)
|
rs754433265
|
0.00001
|
NM_004937.3(CTNS):c.535G>A (p.Gly179Ser)
|
rs752632797
|
0.00001
|
NM_004937.3(CTNS):c.5T>C (p.Ile2Thr)
|
rs768188337
|
0.00001
|
NM_004937.3(CTNS):c.634G>A (p.Ala212Thr)
|
rs768600603
|
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_004937.2(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.*1176_*1179del
|
rs886052875
|
|
NM_004937.3(CTNS):c.*1956_*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.*871G>C
|
rs886052871
|
|
NM_004937.3(CTNS):c.*983G>A
|
rs2076273486
|
|
NM_004937.3(CTNS):c.-136C>A
|
rs886052863
|
|
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.1007T>A (p.Phe336Tyr)
|
|
|
NM_004937.3(CTNS):c.1007T>C (p.Phe336Ser)
|
|
|
NM_004937.3(CTNS):c.1024_1035del (p.Ser342_Phe345del)
|
rs745806090
|
|
NM_004937.3(CTNS):c.1030G>A (p.Val344Ile)
|
|
|
NM_004937.3(CTNS):c.1036G>A (p.Asp346Asn)
|
|
|
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.1042G>A (p.Val348Ile)
|
|
|
NM_004937.3(CTNS):c.1045T>G (p.Phe349Val)
|
rs748094459
|
|
NM_004937.3(CTNS):c.1045TTC[1] (p.Phe350del)
|
rs2076255711
|
|
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.108C>G (p.Asn36Lys)
|
|
|
NM_004937.3(CTNS):c.122A>C (p.Asn41Thr)
|
|
|
NM_004937.3(CTNS):c.140+6T>C
|
|
|
NM_004937.3(CTNS):c.182C>G (p.Thr61Arg)
|
|
|
NM_004937.3(CTNS):c.188G>T (p.Arg63Leu)
|
|
|
NM_004937.3(CTNS):c.191C>G (p.Ser64Cys)
|
rs1454743016
|
|
NM_004937.3(CTNS):c.221A>G (p.Asp74Gly)
|
|
|
NM_004937.3(CTNS):c.225+3A>G
|
rs2075909295
|
|
NM_004937.3(CTNS):c.225+5_225+8del
|
rs1555561048
|
|
NM_004937.3(CTNS):c.226-13dup
|
|
|
NM_004937.3(CTNS):c.22A>G (p.Ile8Val)
|
|
|
NM_004937.3(CTNS):c.248C>T (p.Thr83Ile)
|
rs1295370570
|
|
NM_004937.3(CTNS):c.254C>G (p.Ser85Cys)
|
|
|
NM_004937.3(CTNS):c.278A>G (p.Asn93Ser)
|
|
|
NM_004937.3(CTNS):c.289C>T (p.Leu97Phe)
|
|
|
NM_004937.3(CTNS):c.306T>C (p.His102=)
|
rs2076094603
|
|
NM_004937.3(CTNS):c.30C>G (p.Ile10Met)
|
|
|
NM_004937.3(CTNS):c.311A>G (p.Asn104Ser)
|
|
|
NM_004937.3(CTNS):c.328G>A (p.Gly110Ser)
|
|
|
NM_004937.3(CTNS):c.329+3A>C
|
|
|
NM_004937.3(CTNS):c.340_348del (p.Arg114_Leu116del)
|
|
|
NM_004937.3(CTNS):c.343_354del (p.Phe115_Ile118del)
|
rs2150919478
|
|
NM_004937.3(CTNS):c.359G>A (p.Ser120Asn)
|
rs2076099606
|
|
NM_004937.3(CTNS):c.365C>T (p.Ala122Val)
|
rs2076099841
|
|
NM_004937.3(CTNS):c.376A>G (p.Ile126Val)
|
|
|
NM_004937.3(CTNS):c.399C>G (p.Ile133Met)
|
|
|
NM_004937.3(CTNS):c.410C>A (p.Ala137Asp)
|
rs1413852868
|
|
NM_004937.3(CTNS):c.425_427del (p.Phe142del)
|
rs1178364162
|
|
NM_004937.3(CTNS):c.428A>G (p.Tyr143Cys)
|
|
|
NM_004937.3(CTNS):c.455G>A (p.Arg152Gln)
|
|
|
NM_004937.3(CTNS):c.460A>C (p.Ser154Arg)
|
|
|
NM_004937.3(CTNS):c.462-27_462-3del
|
rs1555563374
|
|
NM_004937.3(CTNS):c.49G>A (p.Val17Ile)
|
|
|
NM_004937.3(CTNS):c.514G>T (p.Ala172Ser)
|
|
|
NM_004937.3(CTNS):c.518A>G (p.Tyr173Cys)
|
rs1555563446
|
|
NM_004937.3(CTNS):c.532A>G (p.Ile178Val)
|
|
|
NM_004937.3(CTNS):c.534C>A (p.Ile178=)
|
rs113967200
|
|
NM_004937.3(CTNS):c.561+3A>G
|
|
|
NM_004937.3(CTNS):c.588C>A (p.Asn196Lys)
|
|
|
NM_004937.3(CTNS):c.592G>T (p.Val198Leu)
|
|
|
NM_004937.3(CTNS):c.616G>A (p.Val206Ile)
|
|
|
NM_004937.3(CTNS):c.619TTC[1] (p.Phe208del)
|
rs1555563619
|
|
NM_004937.3(CTNS):c.640G>A (p.Val214Ile)
|
|
|
NM_004937.3(CTNS):c.647C>A (p.Thr216Lys)
|
|
|
NM_004937.3(CTNS):c.64T>A (p.Ser22Thr)
|
|
|
NM_004937.3(CTNS):c.677A>G (p.Tyr226Cys)
|
|
|
NM_004937.3(CTNS):c.681+2dup
|
|
|
NM_004937.3(CTNS):c.681+5G>A
|
|
|
NM_004937.3(CTNS):c.681G>C (p.Glu227Asp)
|
|
|
NM_004937.3(CTNS):c.683G>T (p.Arg228Leu)
|
rs754201055
|
|
NM_004937.3(CTNS):c.684_686dup (p.Gly230dup)
|
rs1555563962
|
|
NM_004937.3(CTNS):c.685G>A (p.Gly229Ser)
|
rs200336280
|
|
NM_004937.3(CTNS):c.691C>A (p.Gln231Lys)
|
rs1463026342
|
|
NM_004937.3(CTNS):c.699G>A (p.Val233=)
|
rs2076195866
|
|
NM_004937.3(CTNS):c.70G>A (p.Val24Ile)
|
|
|
NM_004937.3(CTNS):c.712A>G (p.Ile238Val)
|
|
|
NM_004937.3(CTNS):c.715G>A (p.Gly239Ser)
|
|
|
NM_004937.3(CTNS):c.722T>C (p.Leu241Pro)
|
|
|
NM_004937.3(CTNS):c.73A>T (p.Ser25Cys)
|
rs777367316
|
|
NM_004937.3(CTNS):c.742G>A (p.Ala248Thr)
|
|
|
NM_004937.3(CTNS):c.766_767delinsTT (p.Ala256Leu)
|
rs1567713916
|
|
NM_004937.3(CTNS):c.76C>T (p.Leu26Phe)
|
|
|
NM_004937.3(CTNS):c.782C>G (p.Thr261Arg)
|
rs370257007
|
|
NM_004937.3(CTNS):c.794T>C (p.Phe265Ser)
|
|
|
NM_004937.3(CTNS):c.814A>C (p.Ile272Leu)
|
|
|
NM_004937.3(CTNS):c.817A>G (p.Lys273Glu)
|
rs2076199463
|
|
NM_004937.3(CTNS):c.823G>C (p.Ala275Pro)
|
|
|
NM_004937.3(CTNS):c.829A>G (p.Thr277Ala)
|
|
|
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.853-3C>T
|
rs113994210
|
|
NM_004937.3(CTNS):c.860T>C (p.Met287Thr)
|
|
|
NM_004937.3(CTNS):c.869A>C (p.Tyr290Ser)
|
|
|
NM_004937.3(CTNS):c.86C>T (p.Pro29Leu)
|
|
|
NM_004937.3(CTNS):c.878G>A (p.Ser293Asn)
|
|
|
NM_004937.3(CTNS):c.88C>T (p.Pro30Ser)
|
|
|
NM_004937.3(CTNS):c.902A>G (p.Asn301Ser)
|
|
|
NM_004937.3(CTNS):c.904G>A (p.Val302Met)
|
|
|
NM_004937.3(CTNS):c.907C>T (p.Leu303Phe)
|
rs2142981414
|
|
NM_004937.3(CTNS):c.911T>C (p.Leu304Pro)
|
|
|
NM_004937.3(CTNS):c.914A>G (p.Asp305Gly)
|
rs1263951539
|
|
NM_004937.3(CTNS):c.916T>A (p.Phe306Ile)
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rs912184981
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NM_004937.3(CTNS):c.926G>A (p.Gly309Asp)
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NM_004937.3(CTNS):c.938T>A (p.Leu313His)
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NM_004937.3(CTNS):c.944A>G (p.Gln315Arg)
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rs1064795587
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NM_004937.3(CTNS):c.948G>A (p.Met316Ile)
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NM_004937.3(CTNS):c.976T>A (p.Trp326Arg)
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NM_004937.3(CTNS):c.976T>C (p.Trp326Arg)
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NM_004937.3(CTNS):c.980C>T (p.Thr327Met)
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NM_004937.3(CTNS):c.982C>G (p.Leu328Val)
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NM_004937.3(CTNS):c.985A>G (p.Ile329Val)
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