ClinVar Miner

List of variants in gene CTNS studied for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 751
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.327C>T (p.Thr109=) rs150554216 0.00141
NM_004937.3(CTNS):c.220G>A (p.Asp74Asn) rs139364393 0.00116
NM_004937.3(CTNS):c.*1366C>G rs558637146 0.00105
NM_004937.3(CTNS):c.834G>A (p.Leu278=) rs139519275 0.00094
NM_004937.3(CTNS):c.461+10del rs377470989 0.00077
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.516C>T (p.Ala172=) rs143405190 0.00068
NM_004937.3(CTNS):c.534C>T (p.Ile178=) rs113967200 0.00058
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.562-20T>C rs764063960 0.00042
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.123C>T (p.Asn41=) rs148084080 0.00019
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.414G>A (p.Trp138Ter) rs113994205 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.624C>T (p.Phe208=) rs771057130 0.00009
NM_004937.3(CTNS):c.684C>T (p.Arg228=) rs762346133 0.00009
NM_004937.3(CTNS):c.356G>A (p.Arg119His) rs375970075 0.00008
NM_004937.3(CTNS):c.461+16G>A rs201772152 0.00008
NM_004937.3(CTNS):c.633C>T (p.His211=) rs150428029 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.80C>A (p.Thr27Asn) rs576315457 0.00007
NM_004937.3(CTNS):c.*1336G>A rs541263497 0.00006
NM_004937.3(CTNS):c.29T>C (p.Ile10Thr) rs754092691 0.00006
NM_004937.3(CTNS):c.368T>G (p.Ile123Ser) rs200313254 0.00006
NM_004937.3(CTNS):c.487G>A (p.Val163Met) rs200818208 0.00006
NM_004937.3(CTNS):c.648G>A (p.Thr216=) rs772591288 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.225+19C>T rs550960394 0.00005
NM_004937.3(CTNS):c.285A>T (p.Gly95=) rs373998956 0.00005
NM_004937.3(CTNS):c.364G>A (p.Ala122Thr) rs187396540 0.00005
NM_004937.3(CTNS):c.600C>T (p.Pro200=) rs577044481 0.00005
NM_004937.3(CTNS):c.628C>T (p.Leu210=) rs531995684 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.1015G>A (p.Gly339Arg) rs121908127 0.00004
NM_004937.3(CTNS):c.1035C>T (p.Phe345=) rs149007536 0.00004
NM_004937.3(CTNS):c.1038C>T (p.Asp346=) rs771450572 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.510C>T (p.Phe170=) rs747488464 0.00004
NM_004937.3(CTNS):c.562-16C>T rs776712980 0.00004
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg) rs113994207 0.00004
NM_004937.3(CTNS):c.635C>T (p.Ala212Val) rs776658046 0.00004
NM_004937.3(CTNS):c.66A>C (p.Ser22=) rs748125070 0.00004
NM_004937.3(CTNS):c.682-9C>T rs943621505 0.00004
NM_004937.3(CTNS):c.69C>T (p.Ser23=) rs142642362 0.00004
NM_004937.3(CTNS):c.730G>A (p.Ala244Thr) rs559490847 0.00004
NM_004937.3(CTNS):c.852+8C>T rs780856527 0.00004
NM_004937.3(CTNS):c.853-5C>T rs979289719 0.00004
NM_004937.3(CTNS):c.921C>T (p.Thr307=) rs117654723 0.00004
NM_004937.3(CTNS):c.970+5G>A rs753451110 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.*180C>T rs552754402 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.117G>A (p.Ser39=) rs765428193 0.00003
NM_004937.3(CTNS):c.461+8C>T rs368822078 0.00003
NM_004937.3(CTNS):c.621C>T (p.Phe207=) rs749428707 0.00003
NM_004937.3(CTNS):c.726G>C (p.Val242=) rs777045218 0.00003
NM_004937.3(CTNS):c.831G>T (p.Thr277=) rs533147998 0.00003
NM_004937.3(CTNS):c.951C>T (p.Phe317=) rs770096901 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.141-4A>C rs1437667230 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.61+20G>A rs760019018 0.00002
NM_004937.3(CTNS):c.642C>G (p.Val214=) rs760843675 0.00002
NM_004937.3(CTNS):c.759C>T (p.Ile253=) rs778758718 0.00002
NM_004937.3(CTNS):c.870C>T (p.Tyr290=) rs776842972 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.1014C>T (p.Leu338=) rs766085355 0.00001
NM_004937.3(CTNS):c.1020C>G (p.Val340=) rs759909683 0.00001
NM_004937.3(CTNS):c.102G>A (p.Leu34=) rs2075871217 0.00001
NM_004937.3(CTNS):c.1071C>T (p.Tyr357=) rs1210146657 0.00001
NM_004937.3(CTNS):c.1080A>G (p.Arg360=) rs1244220520 0.00001
NM_004937.3(CTNS):c.1089T>C (p.Tyr363=) rs371237992 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.141-6C>T rs777132924 0.00001
NM_004937.3(CTNS):c.207C>T (p.Ile69=) rs765304748 0.00001
NM_004937.3(CTNS):c.225+9C>A rs779694812 0.00001
NM_004937.3(CTNS):c.270A>T (p.Thr90=) rs754247532 0.00001
NM_004937.3(CTNS):c.333G>A (p.Pro111=) rs755169805 0.00001
NM_004937.3(CTNS):c.341G>A (p.Arg114His) rs559362332 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.39C>T (p.Pro13=) rs370068809 0.00001
NM_004937.3(CTNS):c.416C>T (p.Ser139Phe) rs267606754 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.462-10C>A rs765481486 0.00001
NM_004937.3(CTNS):c.462-10C>T rs765481486 0.00001
NM_004937.3(CTNS):c.525A>G (p.Val175=) rs1040347769 0.00001
NM_004937.3(CTNS):c.535G>A (p.Gly179Ser) rs752632797 0.00001
NM_004937.3(CTNS):c.588C>T (p.Asn196=) rs757955245 0.00001
NM_004937.3(CTNS):c.597C>T (p.Asn199=) rs1325554729 0.00001
NM_004937.3(CTNS):c.5T>C (p.Ile2Thr) rs768188337 0.00001
NM_004937.3(CTNS):c.609C>T (p.Ser203=) rs200273011 0.00001
NM_004937.3(CTNS):c.61+2T>C rs767289120 0.00001
NM_004937.3(CTNS):c.61+7T>C rs762701585 0.00001
NM_004937.3(CTNS):c.612C>T (p.Asn204=) rs200170842 0.00001
NM_004937.3(CTNS):c.613G>A (p.Asp205Asn) rs113994208 0.00001
NM_004937.3(CTNS):c.615C>T (p.Asp205=) rs756137690 0.00001
NM_004937.3(CTNS):c.634G>A (p.Ala212Thr) rs768600603 0.00001
NM_004937.3(CTNS):c.646dup (p.Thr216fs) rs893207601 0.00001
NM_004937.3(CTNS):c.660C>T (p.Ile220=) rs369227591 0.00001
NM_004937.3(CTNS):c.668del (p.Cys223fs) rs770145986 0.00001
NM_004937.3(CTNS):c.681+1G>A rs749317721 0.00001
NM_004937.3(CTNS):c.681+7C>A rs757360314 0.00001
NM_004937.3(CTNS):c.681+9A>T rs1800531 0.00001
NM_004937.3(CTNS):c.682-8G>A rs759116689 0.00001
NM_004937.3(CTNS):c.682C>T (p.Arg228Cys) rs764538705 0.00001
NM_004937.3(CTNS):c.714C>T (p.Ile238=) rs372330647 0.00001
NM_004937.3(CTNS):c.720C>T (p.Phe240=) rs771577860 0.00001
NM_004937.3(CTNS):c.729C>T (p.Leu243=) rs762142619 0.00001
NM_004937.3(CTNS):c.732G>A (p.Ala244=) rs199518474 0.00001
NM_004937.3(CTNS):c.744A>G (p.Ala248=) rs767702551 0.00001
NM_004937.3(CTNS):c.768A>G (p.Ala256=) rs746564292 0.00001
NM_004937.3(CTNS):c.783G>A (p.Thr261=) rs377053292 0.00001
NM_004937.3(CTNS):c.789G>A (p.Leu263=) rs773808648 0.00001
NM_004937.3(CTNS):c.792G>A (p.Gln264=) rs148662747 0.00001
NM_004937.3(CTNS):c.822C>T (p.Leu274=) rs150773117 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.851del (p.Gln284fs) rs2076200436 0.00001
NM_004937.3(CTNS):c.855C>G (p.Ala285=) rs1425996808 0.00001
NM_004937.3(CTNS):c.879C>T (p.Ser293=) rs767558679 0.00001
NM_004937.3(CTNS):c.885G>A (p.Glu295=) rs752243433 0.00001
NM_004937.3(CTNS):c.886G>A (p.Gly296Ser) rs755702977 0.00001
NM_004937.3(CTNS):c.897T>C (p.Ile299=) rs199824920 0.00001
NM_004937.3(CTNS):c.903C>T (p.Asn301=) rs757595884 0.00001
NM_004937.3(CTNS):c.922G>A (p.Gly308Arg) rs746307931 0.00001
NM_004937.3(CTNS):c.966C>T (p.Asn322=) rs767301567 0.00001
NM_004937.3(CTNS):c.970+14C>T rs756853653 0.00001
NM_004937.3(CTNS):c.971-8G>A rs777822023 0.00001
NM_004937.3(CTNS):c.981G>A (p.Thr327=) rs779967932 0.00001
NM_004937.3(CTNS):c.990C>T (p.Phe330=) rs544777200 0.00001
GRCh37/hg19 17p13.2(chr17:3539741-3561489)
NC_000017.10:g.(?_3539712)_(3543571_?)del
NC_000017.10:g.(?_3539712)_(3552235_?)del
NC_000017.10:g.(?_3539712)_(3563663_?)del
NC_000017.10:g.(?_3543501)_(3543581_?)del
NC_000017.10:g.(?_3543501)_(3552245_?)del
NC_000017.10:g.(?_3550718)_(3552245_?)dup
NC_000017.10:g.(?_3550728)_(3550826_?)del
NC_000017.10:g.(?_3558272)_(3560109_?)del
NC_000017.11:g.(?_3647424)_(3648951_?)del
NC_000017.11:g.(?_3647434)_(3648941_?)del
NC_000017.11:g.(?_3647444)_(3658175_?)del
NC_000017.11:g.(?_3654988)_(3655362_?)del
NC_000017.11:g.(?_3657995)_(3660744_?)del
NC_000017.11:g.3636418G>T rs887657778
NC_000017.11:g.3636418_3636419insT
NC_000017.11:g.3659858del rs2142981161
NC_000017.11:g.3660238_3660245del
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.1000del (p.Thr334fs) rs2142982656
NM_004937.3(CTNS):c.1002C>T (p.Thr334=)
NM_004937.3(CTNS):c.1007T>A (p.Phe336Tyr)
NM_004937.3(CTNS):c.1007T>C (p.Phe336Ser)
NM_004937.3(CTNS):c.1014C>G (p.Leu338=)
NM_004937.3(CTNS):c.1020C>T (p.Val340=) rs759909683
NM_004937.3(CTNS):c.1024_1035del (p.Ser342_Phe345del) rs745806090
NM_004937.3(CTNS):c.1029C>A (p.Ile343=) rs147428183
NM_004937.3(CTNS):c.1029C>T (p.Ile343=) rs147428183
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.1041C>G (p.Val347=) rs779369414
NM_004937.3(CTNS):c.1041C>T (p.Val347=) rs779369414
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.1053C>T (p.Ile351=) rs2142982938
NM_004937.3(CTNS):c.1054C>T (p.Gln352Ter)
NM_004937.3(CTNS):c.1059C>T (p.His353=)
NM_004937.3(CTNS):c.105G>A (p.Glu35=) rs2150904680
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.1077G>A (p.Lys359=) rs2142983047
NM_004937.3(CTNS):c.1082C>T (p.Pro361Leu) rs560868487
NM_004937.3(CTNS):c.1086G>A (p.Gly362=) rs1055176574
NM_004937.3(CTNS):c.1086G>T (p.Gly362=)
NM_004937.3(CTNS):c.108C>G (p.Asn36Lys)
NM_004937.3(CTNS):c.1102T>C (p.Ter368Gln) rs1057517330
NM_004937.3(CTNS):c.117G>C (p.Ser39=) rs765428193
NM_004937.3(CTNS):c.117G>T (p.Ser39=)
NM_004937.3(CTNS):c.120dup (p.Asn41fs)
NM_004937.3(CTNS):c.122A>C (p.Asn41Thr)
NM_004937.3(CTNS):c.12T>C (p.Asn4=) rs550375830
NM_004937.3(CTNS):c.132C>T (p.Leu44=) rs756058217
NM_004937.3(CTNS):c.135C>A (p.Thr45=)
NM_004937.3(CTNS):c.140+10T>C
NM_004937.3(CTNS):c.140+10_140+11del rs755167662
NM_004937.3(CTNS):c.140+11G>A
NM_004937.3(CTNS):c.140+12G>C
NM_004937.3(CTNS):c.140+15C>T rs2150904807
NM_004937.3(CTNS):c.140+19C>T
NM_004937.3(CTNS):c.140+1G>A
NM_004937.3(CTNS):c.140+1G>C
NM_004937.3(CTNS):c.140+1G>T rs1567701415
NM_004937.3(CTNS):c.140+1_140+20del
NM_004937.3(CTNS):c.140+1del rs2150904759
NM_004937.3(CTNS):c.140+20G>A
NM_004937.3(CTNS):c.140+2T>C rs2075872773
NM_004937.3(CTNS):c.140+2dup
NM_004937.3(CTNS):c.140+6T>C
NM_004937.3(CTNS):c.140+9C>T rs1567701450
NM_004937.3(CTNS):c.141-14C>T
NM_004937.3(CTNS):c.141-1G>A rs2075906916
NM_004937.3(CTNS):c.141-20T>C
NM_004937.3(CTNS):c.141-24T>C
NM_004937.3(CTNS):c.141-24_141-18del
NM_004937.3(CTNS):c.141-4A>G rs1437667230
NM_004937.3(CTNS):c.141-8C>T rs768912772
NM_004937.3(CTNS):c.150A>G (p.Leu50=)
NM_004937.3(CTNS):c.152_153insCT (p.Ala52fs) rs2150906974
NM_004937.3(CTNS):c.156A>G (p.Ala52=) rs1597623923
NM_004937.3(CTNS):c.159C>T (p.Thr53=) rs769818124
NM_004937.3(CTNS):c.15G>A (p.Trp5Ter)
NM_004937.3(CTNS):c.162G>C (p.Leu54=)
NM_004937.3(CTNS):c.171T>G (p.Thr57=)
NM_004937.3(CTNS):c.180C>T (p.Ile60=)
NM_004937.3(CTNS):c.182C>G (p.Thr61Arg)
NM_004937.3(CTNS):c.183A>G (p.Thr61=)
NM_004937.3(CTNS):c.188G>T (p.Arg63Leu)
NM_004937.3(CTNS):c.18_21del (p.Thr7fs) rs786204501
NM_004937.3(CTNS):c.191C>G (p.Ser64Cys) rs1454743016
NM_004937.3(CTNS):c.198T>C (p.Asn66=)
NM_004937.3(CTNS):c.199_219del (p.Ile67_Pro73del) rs786204550
NM_004937.3(CTNS):c.1A>T (p.Met1Leu) rs2075650925
NM_004937.3(CTNS):c.204T>C (p.Thr68=)
NM_004937.3(CTNS):c.204del (p.Ile69fs)
NM_004937.3(CTNS):c.206_210del (p.Ile69fs) rs879758262
NM_004937.3(CTNS):c.20del (p.Thr7fs) rs1555558078
NM_004937.3(CTNS):c.219C>G (p.Pro73=)
NM_004937.3(CTNS):c.219C>T (p.Pro73=) rs2150907083
NM_004937.3(CTNS):c.221A>G (p.Asp74Gly)
NM_004937.3(CTNS):c.222T>C (p.Asp74=) rs1597624144
NM_004937.3(CTNS):c.225+10C>A rs2150907128
NM_004937.3(CTNS):c.225+12A>G
NM_004937.3(CTNS):c.225+1G>A rs1555561049
NM_004937.3(CTNS):c.225+1G>C
NM_004937.3(CTNS):c.225+20G>A
NM_004937.3(CTNS):c.225+3A>G rs2075909295
NM_004937.3(CTNS):c.225+3A>T
NM_004937.3(CTNS):c.225+5G>A
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.225+7A>T
NM_004937.3(CTNS):c.225+9C>G
NM_004937.3(CTNS):c.226-11C>T
NM_004937.3(CTNS):c.226-13dup
NM_004937.3(CTNS):c.226-14A>C
NM_004937.3(CTNS):c.226-15C>T
NM_004937.3(CTNS):c.226-1G>A
NM_004937.3(CTNS):c.226-1G>C
NM_004937.3(CTNS):c.226-6dup
NM_004937.3(CTNS):c.226-7C>G
NM_004937.3(CTNS):c.226-7C>T rs2076091750
NM_004937.3(CTNS):c.226-8C>T rs2150918919
NM_004937.3(CTNS):c.226del
NM_004937.3(CTNS):c.228del (p.Val77fs)
NM_004937.3(CTNS):c.22A>G (p.Ile8Val)
NM_004937.3(CTNS):c.236del (p.Pro79fs)
NM_004937.3(CTNS):c.246G>A (p.Val82=) rs2150918993
NM_004937.3(CTNS):c.248C>T (p.Thr83Ile) rs1295370570
NM_004937.3(CTNS):c.251del (p.Asn84fs) rs1057516296
NM_004937.3(CTNS):c.254C>G (p.Ser85Cys)
NM_004937.3(CTNS):c.257_258del (p.Ser86fs) rs879255614
NM_004937.3(CTNS):c.274C>T (p.Gln92Ter) rs2150919035
NM_004937.3(CTNS):c.278A>G (p.Asn93Ser)
NM_004937.3(CTNS):c.27del (p.Phe9fs) rs2150888913
NM_004937.3(CTNS):c.283G>T (p.Gly95Ter) rs121908124
NM_004937.3(CTNS):c.286C>T (p.Gln96Ter)
NM_004937.3(CTNS):c.288A>G (p.Gln96=)
NM_004937.3(CTNS):c.289C>T (p.Leu97Phe)
NM_004937.3(CTNS):c.292dup (p.Thr98fs) rs786204434
NM_004937.3(CTNS):c.300T>A (p.Tyr100Ter) rs376042415
NM_004937.3(CTNS):c.300T>C (p.Tyr100=) rs376042415
NM_004937.3(CTNS):c.306T>C (p.His102=) rs2076094603
NM_004937.3(CTNS):c.30C>A (p.Ile10=) rs2075651822
NM_004937.3(CTNS):c.30C>G (p.Ile10Met)
NM_004937.3(CTNS):c.311A>G (p.Asn104Ser)
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.328G>A (p.Gly110Ser)
NM_004937.3(CTNS):c.329+10C>T rs2150919178
NM_004937.3(CTNS):c.329+13C>T
NM_004937.3(CTNS):c.329+14_329+15del
NM_004937.3(CTNS):c.329+2T>C rs955833453
NM_004937.3(CTNS):c.329+3A>C
NM_004937.3(CTNS):c.330-16C>T
NM_004937.3(CTNS):c.330-18C>T
NM_004937.3(CTNS):c.330-20G>A
NM_004937.3(CTNS):c.330-9_330-7del rs2150919428
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.354C>T (p.Ile118=) rs2150919502
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.366C>T (p.Ala122=)
NM_004937.3(CTNS):c.372C>T (p.Ser124=)
NM_004937.3(CTNS):c.375C>T (p.Ile125=) rs1277785045
NM_004937.3(CTNS):c.376A>G (p.Ile126Val)
NM_004937.3(CTNS):c.382C>T (p.Gln128Ter) rs550254092
NM_004937.3(CTNS):c.387G>A (p.Val129=) rs2150919602
NM_004937.3(CTNS):c.395G>A (p.Trp132Ter)
NM_004937.3(CTNS):c.399C>G (p.Ile133Met)
NM_004937.3(CTNS):c.402C>G (p.Tyr134Ter) rs2076100759
NM_004937.3(CTNS):c.405dup (p.Val136fs)
NM_004937.3(CTNS):c.40C>T (p.Leu14=)
NM_004937.3(CTNS):c.40del (p.Pro13_Leu14insTer) rs1555558099
NM_004937.3(CTNS):c.410C>A (p.Ala137Asp) rs1413852868
NM_004937.3(CTNS):c.411C>T (p.Ala137=)
NM_004937.3(CTNS):c.415T>C (p.Ser139Pro)
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.426C>T (p.Phe142=) rs2150919725
NM_004937.3(CTNS):c.428A>G (p.Tyr143Cys)
NM_004937.3(CTNS):c.429C>A (p.Tyr143Ter) rs1597647930
NM_004937.3(CTNS):c.429C>G (p.Tyr143Ter)
NM_004937.3(CTNS):c.433C>T (p.Gln145Ter) rs2076101632
NM_004937.3(CTNS):c.441C>T (p.Ile147=) rs2150919757
NM_004937.3(CTNS):c.447T>C (p.Asn149=)
NM_004937.3(CTNS):c.449G>A (p.Trp150Ter) rs2076101974
NM_004937.3(CTNS):c.450G>A (p.Trp150Ter)
NM_004937.3(CTNS):c.451A>G (p.Arg151Gly) rs1555563010
NM_004937.3(CTNS):c.453G>A (p.Arg151=) rs2150919797
NM_004937.3(CTNS):c.455G>A (p.Arg152Gln)
NM_004937.3(CTNS):c.460A>C (p.Ser154Arg)
NM_004937.3(CTNS):c.461+13G>A
NM_004937.3(CTNS):c.461+15C>T
NM_004937.3(CTNS):c.461+16G>C
NM_004937.3(CTNS):c.461+17T>C
NM_004937.3(CTNS):c.461+19T>A
NM_004937.3(CTNS):c.461+19T>C
NM_004937.3(CTNS):c.461+20G>A
NM_004937.3(CTNS):c.462-12C>T
NM_004937.3(CTNS):c.462-17C>T
NM_004937.3(CTNS):c.462-1G>A
NM_004937.3(CTNS):c.462-27_462-3del rs1555563374
NM_004937.3(CTNS):c.462-2A>C
NM_004937.3(CTNS):c.462-47_462-7del
NM_004937.3(CTNS):c.462-6C>T
NM_004937.3(CTNS):c.462-8C>A
NM_004937.3(CTNS):c.462-95_462-19del
NM_004937.3(CTNS):c.462-9C>T
NM_004937.3(CTNS):c.465C>T (p.Val155=)
NM_004937.3(CTNS):c.474G>A (p.Leu158=)
NM_004937.3(CTNS):c.477C>T (p.Ser159=) rs2150922529
NM_004937.3(CTNS):c.479del (p.Phe160fs) rs2076150607
NM_004937.3(CTNS):c.486C>T (p.Phe162=) rs1335640588
NM_004937.3(CTNS):c.486del (p.Phe162fs)
NM_004937.3(CTNS):c.489G>C (p.Val163=) rs2150922571
NM_004937.3(CTNS):c.48C>T (p.Leu16=)
NM_004937.3(CTNS):c.49G>A (p.Val17Ile)
NM_004937.3(CTNS):c.506G>A (p.Gly169Asp) rs121908126
NM_004937.3(CTNS):c.513G>A (p.Val171=)
NM_004937.3(CTNS):c.514G>T (p.Ala172Ser)
NM_004937.3(CTNS):c.517T>C (p.Tyr173His)
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.525A>C (p.Val175=)
NM_004937.3(CTNS):c.530A>G (p.Asn177Ser)
NM_004937.3(CTNS):c.531C>T (p.Asn177=) rs2150922708
NM_004937.3(CTNS):c.532A>G (p.Ile178Val)
NM_004937.3(CTNS):c.534C>A (p.Ile178=) rs113967200
NM_004937.3(CTNS):c.537C>G (p.Gly179=) rs1033509163
NM_004937.3(CTNS):c.537C>T (p.Gly179=)
NM_004937.3(CTNS):c.539_551del (p.Leu180fs) rs2150922730
NM_004937.3(CTNS):c.540C>T (p.Leu180=)
NM_004937.3(CTNS):c.544T>C (p.Trp182Arg) rs764168489
NM_004937.3(CTNS):c.545G>A (p.Trp182Ter)
NM_004937.3(CTNS):c.546G>A (p.Trp182Ter)
NM_004937.3(CTNS):c.546G>T (p.Trp182Cys) rs2150922764
NM_004937.3(CTNS):c.552C>T (p.Pro184=) rs2150922782
NM_004937.3(CTNS):c.555C>T (p.Tyr185=)
NM_004937.3(CTNS):c.559_561+24del rs113994211
NM_004937.3(CTNS):c.561+12C>T
NM_004937.3(CTNS):c.561+15G>A
NM_004937.3(CTNS):c.561+18C>T
NM_004937.3(CTNS):c.561+1del rs786204667
NM_004937.3(CTNS):c.561+3A>G
NM_004937.3(CTNS):c.561+7C>G rs1230869706
NM_004937.3(CTNS):c.561+7C>T
NM_004937.3(CTNS):c.561+8C>G rs2150922813
NM_004937.3(CTNS):c.561+8C>T
NM_004937.3(CTNS):c.562-15C>T
NM_004937.3(CTNS):c.562-17T>C
NM_004937.3(CTNS):c.562-18C>A
NM_004937.3(CTNS):c.562-1G>C
NM_004937.3(CTNS):c.562-2A>G
NM_004937.3(CTNS):c.562-2_562-1del rs1555563521
NM_004937.3(CTNS):c.562-4A>T rs761366500
NM_004937.3(CTNS):c.562-8C>T rs1194962259
NM_004937.3(CTNS):c.565C>T (p.Gln189Ter) rs1597654770
NM_004937.3(CTNS):c.573C>T (p.Leu191=)
NM_004937.3(CTNS):c.587dup (p.Asn196fs) rs1597654857
NM_004937.3(CTNS):c.588C>A (p.Asn196Lys)
NM_004937.3(CTNS):c.592G>T (p.Val198Leu)
NM_004937.3(CTNS):c.592del (p.Gly197_Val198insTer) rs1555563568
NM_004937.3(CTNS):c.600del (p.Pro200_Val201insTer)
NM_004937.3(CTNS):c.603G>C (p.Val201=) rs912410408
NM_004937.3(CTNS):c.606C>T (p.Asn202=) rs2150923073
NM_004937.3(CTNS):c.60_61del (p.Cys20_Glu21delinsTer) rs1567695026
NM_004937.3(CTNS):c.61+10G>T
NM_004937.3(CTNS):c.61+17C>G
NM_004937.3(CTNS):c.61+19C>T
NM_004937.3(CTNS):c.61+1G>A rs1555558116
NM_004937.3(CTNS):c.61+1G>T rs1555558116
NM_004937.3(CTNS):c.61+5G>A rs1407498555
NM_004937.3(CTNS):c.61+5G>C
NM_004937.3(CTNS):c.61+8T>G rs2150889028
NM_004937.3(CTNS):c.611ACG[1] (p.Asp205del) rs760256854
NM_004937.3(CTNS):c.616G>A (p.Val206Ile)
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.62-14T>G
NM_004937.3(CTNS):c.62-19T>C
NM_004937.3(CTNS):c.62-1G>A rs1597619719
NM_004937.3(CTNS):c.62-1G>T rs1597619719
NM_004937.3(CTNS):c.62-2864_225+2278del
NM_004937.3(CTNS):c.62-2A>G rs1555560637
NM_004937.3(CTNS):c.62-5T>C
NM_004937.3(CTNS):c.62-8C>T rs2150904561
NM_004937.3(CTNS):c.636G>A (p.Ala212=)
NM_004937.3(CTNS):c.640G>A (p.Val214Ile)
NM_004937.3(CTNS):c.645C>T (p.Leu215=)
NM_004937.3(CTNS):c.646_647insAA (p.Thr216fs)
NM_004937.3(CTNS):c.647C>A (p.Thr216Lys)
NM_004937.3(CTNS):c.647C>G (p.Thr216Arg)
NM_004937.3(CTNS):c.649C>T (p.Leu217=)
NM_004937.3(CTNS):c.64T>A (p.Ser22Thr)
NM_004937.3(CTNS):c.651G>A (p.Leu217=) rs762581003
NM_004937.3(CTNS):c.651G>C (p.Leu217=) rs762581003
NM_004937.3(CTNS):c.666G>A (p.Gln222=) rs2076159145
NM_004937.3(CTNS):c.672C>A (p.Cys224Ter)
NM_004937.3(CTNS):c.673C>T (p.Leu225=)
NM_004937.3(CTNS):c.675G>A (p.Leu225=)
NM_004937.3(CTNS):c.677A>G (p.Tyr226Cys)
NM_004937.3(CTNS):c.681+11C>T
NM_004937.3(CTNS):c.681+12C>G
NM_004937.3(CTNS):c.681+15G>T
NM_004937.3(CTNS):c.681+16dup
NM_004937.3(CTNS):c.681+17C>T
NM_004937.3(CTNS):c.681+19C>A
NM_004937.3(CTNS):c.681+1del rs1555563658
NM_004937.3(CTNS):c.681+22del
NM_004937.3(CTNS):c.681+2T>C rs1057516723
NM_004937.3(CTNS):c.681+2dup
NM_004937.3(CTNS):c.681+5G>A
NM_004937.3(CTNS):c.681+8del rs2150923282
NM_004937.3(CTNS):c.681G>A (p.Glu227=) rs778414542
NM_004937.3(CTNS):c.681G>C (p.Glu227Asp)
NM_004937.3(CTNS):c.682-10T>A
NM_004937.3(CTNS):c.682-11C>T
NM_004937.3(CTNS):c.682-16C>T
NM_004937.3(CTNS):c.682-1G>A rs1057516771
NM_004937.3(CTNS):c.682-1G>T rs1057516771
NM_004937.3(CTNS):c.682-2A>C
NM_004937.3(CTNS):c.682-3del
NM_004937.3(CTNS):c.682-3dup rs2150924916
NM_004937.3(CTNS):c.682-5C>A
NM_004937.3(CTNS):c.682-6C>T
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.685G>T (p.Gly229Cys) rs200336280
NM_004937.3(CTNS):c.686_699del (p.Gly229fs)
NM_004937.3(CTNS):c.690C>G (p.Gly230=)
NM_004937.3(CTNS):c.691C>A (p.Gln231Lys) rs1463026342
NM_004937.3(CTNS):c.691C>T (p.Gln231Ter) rs1463026342
NM_004937.3(CTNS):c.696C>G (p.Arg232=) rs529381598
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.70G>A (p.Val24Ile)
NM_004937.3(CTNS):c.711C>T (p.Ala237=)
NM_004937.3(CTNS):c.712A>G (p.Ile238Val)
NM_004937.3(CTNS):c.715G>A (p.Gly239Ser)
NM_004937.3(CTNS):c.721C>T (p.Leu241=) rs775072561
NM_004937.3(CTNS):c.722T>C (p.Leu241Pro)
NM_004937.3(CTNS):c.729C>G (p.Leu243=) rs762142619
NM_004937.3(CTNS):c.732G>T (p.Ala244=) rs199518474
NM_004937.3(CTNS):c.734G>A (p.Trp245Ter) rs763089013
NM_004937.3(CTNS):c.735G>A (p.Trp245Ter) rs2150925108
NM_004937.3(CTNS):c.738C>G (p.Leu246=) rs2076197055
NM_004937.3(CTNS):c.73A>T (p.Ser25Cys) rs777367316
NM_004937.3(CTNS):c.741C>T (p.Phe247=)
NM_004937.3(CTNS):c.742G>A (p.Ala248Thr)
NM_004937.3(CTNS):c.751A>G (p.Thr251Ala)
NM_004937.3(CTNS):c.751_752del (p.Thr251fs)
NM_004937.3(CTNS):c.766_767delinsTT (p.Ala256Leu) rs1567713916
NM_004937.3(CTNS):c.768dup (p.Val257fs) rs1567713938
NM_004937.3(CTNS):c.76C>T (p.Leu26Phe)
NM_004937.3(CTNS):c.771_793del (p.Gly258fs) rs759623796
NM_004937.3(CTNS):c.777G>A (p.Val259=)
NM_004937.3(CTNS):c.782C>G (p.Thr261Arg) rs370257007
NM_004937.3(CTNS):c.783G>T (p.Thr261=)
NM_004937.3(CTNS):c.785G>A (p.Trp262Ter)
NM_004937.3(CTNS):c.78C>G (p.Leu26=)
NM_004937.3(CTNS):c.790C>T (p.Gln264Ter) rs2076198741
NM_004937.3(CTNS):c.790_791del (p.Gln264fs) rs2076198775
NM_004937.3(CTNS):c.794T>C (p.Phe265Ser)
NM_004937.3(CTNS):c.798C>A (p.Leu266=) rs1567714017
NM_004937.3(CTNS):c.798C>T (p.Leu266=) rs1567714017
NM_004937.3(CTNS):c.809C>T (p.Ser270Phe) rs2150925336
NM_004937.3(CTNS):c.809_811del (p.Ser270del) rs786204632
NM_004937.3(CTNS):c.810C>G (p.Ser270=)
NM_004937.3(CTNS):c.814A>C (p.Ile272Leu)
NM_004937.3(CTNS):c.814_818delinsT (p.Ile272fs)
NM_004937.3(CTNS):c.817A>G (p.Lys273Glu) rs2076199463
NM_004937.3(CTNS):c.819G>A (p.Lys273=) rs2150925362
NM_004937.3(CTNS):c.81T>C (p.Thr27=)
NM_004937.3(CTNS):c.823G>C (p.Ala275Pro)
NM_004937.3(CTNS):c.825A>G (p.Ala275=) rs904979100
NM_004937.3(CTNS):c.829A>G (p.Thr277Ala)
NM_004937.3(CTNS):c.829dup (p.Thr277fs) rs752919200
NM_004937.3(CTNS):c.82_83del (p.Val28fs) rs2150904623
NM_004937.3(CTNS):c.831G>A (p.Thr277=) rs533147998
NM_004937.3(CTNS):c.834G>C (p.Leu278=)
NM_004937.3(CTNS):c.834G>T (p.Leu278=) rs139519275
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.841dup (p.Tyr281fs) rs1411094034
NM_004937.3(CTNS):c.843T>C (p.Tyr281=) rs2076200273
NM_004937.3(CTNS):c.852+10G>A
NM_004937.3(CTNS):c.852+14C>G
NM_004937.3(CTNS):c.852+14C>T
NM_004937.3(CTNS):c.852+14_852+15del
NM_004937.3(CTNS):c.852+14_852+34del
NM_004937.3(CTNS):c.852+17G>A
NM_004937.3(CTNS):c.852+19T>A
NM_004937.3(CTNS):c.852+1G>A rs2150925483
NM_004937.3(CTNS):c.852+20C>T
NM_004937.3(CTNS):c.853-10_853-7del rs1198120476
NM_004937.3(CTNS):c.853-11G>A
NM_004937.3(CTNS):c.853-13C>G
NM_004937.3(CTNS):c.853-16C>T
NM_004937.3(CTNS):c.853-18_853-7del
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>G rs113994210
NM_004937.3(CTNS):c.853-3C>T rs113994210
NM_004937.3(CTNS):c.853-6G>T rs775425630
NM_004937.3(CTNS):c.853-8T>C
NM_004937.3(CTNS):c.858C>T (p.Tyr286=)
NM_004937.3(CTNS):c.85_86del (p.Pro29fs)
NM_004937.3(CTNS):c.860T>C (p.Met287Thr)
NM_004937.3(CTNS):c.864C>A (p.Asn288Lys)
NM_004937.3(CTNS):c.869A>C (p.Tyr290Ser)
NM_004937.3(CTNS):c.869dup (p.Tyr290Ter) rs1555564600
NM_004937.3(CTNS):c.86C>T (p.Pro29Leu)
NM_004937.3(CTNS):c.870C>G (p.Tyr290Ter) rs776842972
NM_004937.3(CTNS):c.877dup (p.Ser293fs)
NM_004937.3(CTNS):c.878G>A (p.Ser293Asn)
NM_004937.3(CTNS):c.88C>T (p.Pro30Ser)
NM_004937.3(CTNS):c.890G>A (p.Trp297Ter) rs917630768
NM_004937.3(CTNS):c.900C>T (p.Gly300=)
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.909C>T (p.Leu303=) rs1252160181
NM_004937.3(CTNS):c.90T>C (p.Pro30=) rs2075870364
NM_004937.3(CTNS):c.911T>C (p.Leu304Pro)
NM_004937.3(CTNS):c.912G>A (p.Leu304=)
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.918C>T (p.Phe306=)
NM_004937.3(CTNS):c.922G>C (p.Gly308Arg) rs746307931
NM_004937.3(CTNS):c.923G>C (p.Gly308Ala)
NM_004937.3(CTNS):c.923G>T (p.Gly308Val)
NM_004937.3(CTNS):c.926G>A (p.Gly309Asp)
NM_004937.3(CTNS):c.926dup (p.Ser310fs) rs786204420
NM_004937.3(CTNS):c.930C>T (p.Ser310=) rs1262456716
NM_004937.3(CTNS):c.936C>T (p.Ser312=)
NM_004937.3(CTNS):c.936_945del (p.Ser312fs)
NM_004937.3(CTNS):c.938T>A (p.Leu313His)
NM_004937.3(CTNS):c.93C>T (p.Val31=) rs772569260
NM_004937.3(CTNS):c.943C>T (p.Gln315Ter)
NM_004937.3(CTNS):c.944A>G (p.Gln315Arg) rs1064795587
NM_004937.3(CTNS):c.948G>A (p.Met316Ile)
NM_004937.3(CTNS):c.954C>T (p.Leu318=) rs2142981648
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.969C>T (p.Asn323=) rs121908128
NM_004937.3(CTNS):c.970+10C>T
NM_004937.3(CTNS):c.970+15_970+21del
NM_004937.3(CTNS):c.970+9G>A rs1159271531
NM_004937.3(CTNS):c.970+9G>T
NM_004937.3(CTNS):c.971-12G>A rs375952052
NM_004937.3(CTNS):c.971-12G>C
NM_004937.3(CTNS):c.971-13C>T
NM_004937.3(CTNS):c.971-13dup
NM_004937.3(CTNS):c.971-15C>T
NM_004937.3(CTNS):c.971-16C>G
NM_004937.3(CTNS):c.971-16C>T
NM_004937.3(CTNS):c.971-17C>T
NM_004937.3(CTNS):c.971-1G>C rs2142982540
NM_004937.3(CTNS):c.971-1dup rs1555564823
NM_004937.3(CTNS):c.971-2A>G
NM_004937.3(CTNS):c.971-2dup
NM_004937.3(CTNS):c.971-6T>G
NM_004937.3(CTNS):c.971-8_971-6del
NM_004937.3(CTNS):c.972C>T (p.Asp324=)
NM_004937.3(CTNS):c.975G>A (p.Gln325=)
NM_004937.3(CTNS):c.976T>A (p.Trp326Arg)
NM_004937.3(CTNS):c.976T>C (p.Trp326Arg)
NM_004937.3(CTNS):c.977G>A (p.Trp326Ter)
NM_004937.3(CTNS):c.980C>T (p.Thr327Met)
NM_004937.3(CTNS):c.981G>T (p.Thr327=)
NM_004937.3(CTNS):c.982C>G (p.Leu328Val)
NM_004937.3(CTNS):c.985A>G (p.Ile329Val)
NM_004937.3(CTNS):c.987C>T (p.Ile329=) rs2142982610
NM_004937.3(CTNS):c.999A>G (p.Pro333=)
NM_004937.3(CTNS):c.99G>A (p.Lys33=) rs2150904661

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