ClinVar Miner

List of variants in gene ALG13 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 271
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HGVS dbSNP gnomAD frequency
NM_001099922.3(ALG13):c.384-213C>T rs1078540 0.26262
NM_001099922.3(ALG13):c.1435+5A>T rs5985638 0.26139
NM_001099922.3(ALG13):c.1729+61G>A rs58580842 0.23558
NM_001099922.3(ALG13):c.835-22T>C rs5985635 0.20221
NM_001099922.3(ALG13):c.1293A>G (p.Pro431=) rs7063657 0.10892
NM_001099922.3(ALG13):c.2530-262C>T rs7055116 0.10646
NM_001099922.3(ALG13):c.383+831G>A rs146299985 0.08437
NC_000023.11:g.111680918del rs200121020 0.08071
NM_001099922.3(ALG13):c.383+239dup rs199523048 0.03223
NM_001099922.3(ALG13):c.1250+111C>T rs116840628 0.02501
NM_001099922.3(ALG13):c.834+194A>G rs114393695 0.02501
NM_001099922.3(ALG13):c.383+1129G>A rs112282413 0.02486
NM_001099922.3(ALG13):c.2529+275C>T rs16986620 0.01838
NM_001099922.3(ALG13):c.1006-97A>G rs58875439 0.01558
NM_001099922.3(ALG13):c.2933-214C>T rs57867104 0.01525
NM_001099922.3(ALG13):c.2974-41A>C rs3027819 0.01497
NM_001099922.3(ALG13):c.1266T>C (p.Gly422=) rs5985637 0.01375
NM_001099922.3(ALG13):c.835-264T>G rs16986609 0.01226
NM_001099922.3(ALG13):c.183C>T (p.Tyr61=) rs146925326 0.00950
NM_001099922.3(ALG13):c.383+2509T>C rs147964455 0.00772
NM_001099922.3(ALG13):c.1152G>A (p.Ala384=) rs145353928 0.00643
NM_001099922.3(ALG13):c.2933-57A>G rs138109869 0.00636
NM_001099922.3(ALG13):c.2530-310G>T rs142085120 0.00630
NM_001099922.3(ALG13):c.383+1029A>G rs139631003 0.00625
NM_001099922.3(ALG13):c.2248-42A>G rs147250361 0.00623
NM_001099922.3(ALG13):c.1088-55A>G rs140598403 0.00398
NM_001099922.3(ALG13):c.1501-298G>A rs183838053 0.00395
NM_001099922.3(ALG13):c.2672C>T (p.Ser891Phe) rs200066623 0.00390
NM_001099922.3(ALG13):c.2248-4A>G rs370438099 0.00325
NM_001099922.3(ALG13):c.2799T>A (p.Pro933=) rs13440710 0.00296
NM_001099922.3(ALG13):c.835-217A>G rs113803341 0.00274
NM_001099922.3(ALG13):c.2898T>C (p.Tyr966=) rs368002375 0.00247
NM_001099922.3(ALG13):c.2932+178T>A rs181510117 0.00229
NM_001099922.3(ALG13):c.2932+179C>A rs185262155 0.00228
NM_001099922.3(ALG13):c.2617G>C (p.Ala873Pro) rs142841538 0.00166
NM_001099922.3(ALG13):c.150C>T (p.Pro50=) rs147897682 0.00102
NM_001099922.3(ALG13):c.3414A>C (p.Ter1138Tyr) rs201820102 0.00089
NM_001099922.3(ALG13):c.3093A>G (p.Gln1031=) rs372260338 0.00065
NM_001099922.3(ALG13):c.1843C>T (p.Leu615=) rs374231091 0.00060
NM_001099922.3(ALG13):c.2796A>T (p.Pro932=) rs748742452 0.00058
NM_001099922.3(ALG13):c.3358A>G (p.Ile1120Val) rs369167525 0.00058
NM_001099922.3(ALG13):c.3399A>G (p.Val1133=) rs372982045 0.00047
NM_001099922.3(ALG13):c.2485A>G (p.Met829Val) rs368075878 0.00046
NM_001099922.3(ALG13):c.104A>G (p.Asn35Ser) rs149808406 0.00035
NM_001099922.3(ALG13):c.371A>G (p.Tyr124Cys) rs145518377 0.00035
NM_001099922.3(ALG13):c.2975G>A (p.Cys992Tyr) rs190790872 0.00027
NM_001099922.3(ALG13):c.3008A>G (p.Tyr1003Cys) rs201055779 0.00024
NM_001099922.3(ALG13):c.3143C>G (p.Ala1048Gly) rs773401427 0.00023
NM_001099922.3(ALG13):c.-14G>A rs199642821 0.00018
NM_001099922.3(ALG13):c.383+1033G>A rs772039609 0.00017
NM_001099922.3(ALG13):c.2070T>C (p.Asp690=) rs371239344 0.00014
NM_001099922.3(ALG13):c.2802T>A (p.Pro934=) rs865879266 0.00014
NM_001099922.3(ALG13):c.1313C>A (p.Thr438Lys) rs367783946 0.00013
NM_001099922.3(ALG13):c.1747A>G (p.Ile583Val) rs377397506 0.00013
NM_001099922.3(ALG13):c.1955G>A (p.Gly652Asp) rs372209528 0.00013
NM_001099922.3(ALG13):c.2606C>T (p.Ala869Val) rs138712375 0.00012
NM_001099922.3(ALG13):c.2685C>T (p.His895=) rs374572450 0.00012
NM_001099922.3(ALG13):c.2787A>G (p.Pro929=) rs772431643 0.00011
NM_001099922.3(ALG13):c.1922A>G (p.His641Arg) rs766772102 0.00010
NM_001099922.3(ALG13):c.2309G>A (p.Gly770Glu) rs751478782 0.00010
NM_001099922.3(ALG13):c.3379C>T (p.Pro1127Ser) rs372841179 0.00010
NM_001099922.3(ALG13):c.1834C>T (p.Pro612Ser) rs200516126 0.00009
NM_001099922.3(ALG13):c.384-5C>T rs763318921 0.00008
NM_001099922.3(ALG13):c.975T>G (p.Thr325=) rs767735916 0.00008
NM_001099922.3(ALG13):c.1813G>A (p.Gly605Ser) rs773666398 0.00007
NM_001099922.3(ALG13):c.288C>T (p.Leu96=) rs369867857 0.00007
NM_001099922.3(ALG13):c.756T>G (p.Phe252Leu) rs915629293 0.00007
NM_001099922.3(ALG13):c.2403G>C (p.Glu801Asp) rs778396216 0.00006
NM_001099922.3(ALG13):c.3297T>A (p.His1099Gln) rs1038668048 0.00006
NM_001099922.3(ALG13):c.108A>G (p.Arg36=) rs769838471 0.00005
NM_001099922.3(ALG13):c.1377C>G (p.Ala459=) rs368020541 0.00005
NM_001099922.3(ALG13):c.2213A>G (p.Glu738Gly) rs374174400 0.00005
NM_001099922.3(ALG13):c.2529+6C>G rs1569520797 0.00005
NM_001099922.3(ALG13):c.2805T>A (p.Pro935=) rs754346057 0.00005
NM_001099922.3(ALG13):c.3240A>G (p.Pro1080=) rs773452673 0.00005
NM_001099922.3(ALG13):c.952C>G (p.Arg318Gly) rs775191661 0.00005
NM_001099922.3(ALG13):c.2013G>A (p.Pro671=) rs775697727 0.00004
NM_001099922.3(ALG13):c.246T>G (p.Gly82=) rs1934561313 0.00004
NM_001099922.3(ALG13):c.3130G>A (p.Ala1044Thr) rs1064796719 0.00004
NM_001099922.3(ALG13):c.350A>T (p.His117Leu) rs754497897 0.00004
NM_001099922.3(ALG13):c.1798A>G (p.Met600Val) rs189931917 0.00003
NM_001099922.3(ALG13):c.2401+9G>T rs1036320277 0.00003
NM_001099922.3(ALG13):c.2842G>A (p.Asp948Asn) rs750257151 0.00003
NM_001099922.3(ALG13):c.1476G>C (p.Gln492His) rs760560180 0.00002
NM_001099922.3(ALG13):c.1664A>G (p.Asn555Ser) rs1198802633 0.00002
NM_001099922.3(ALG13):c.1977-12C>T rs374618611 0.00002
NM_001099922.3(ALG13):c.2078C>T (p.Ser693Phe) rs919912146 0.00002
NM_001099922.3(ALG13):c.2278G>T (p.Ala760Ser) rs773286994 0.00002
NM_001099922.3(ALG13):c.2324A>G (p.Lys775Arg) rs766946325 0.00002
NM_001099922.3(ALG13):c.3058A>G (p.Thr1020Ala) rs3027818 0.00002
NM_001099922.3(ALG13):c.3271G>C (p.Asp1091His) rs1264248744 0.00002
NM_001099922.3(ALG13):c.360T>C (p.Gly120=) rs747837898 0.00002
NM_001099922.3(ALG13):c.419C>T (p.Ala140Val) rs373025706 0.00002
NM_001099922.3(ALG13):c.834+3A>G rs370066652 0.00002
NM_001099922.3(ALG13):c.1029T>C (p.Ser343=) rs772765360 0.00001
NM_001099922.3(ALG13):c.1064A>G (p.Gln355Arg) rs372521943 0.00001
NM_001099922.3(ALG13):c.1217C>T (p.Ala406Val) rs1057522541 0.00001
NM_001099922.3(ALG13):c.1308A>G (p.Lys436=) rs1423402192 0.00001
NM_001099922.3(ALG13):c.1349T>C (p.Met450Thr) rs1057523457 0.00001
NM_001099922.3(ALG13):c.1661G>T (p.Trp554Leu) rs1364102879 0.00001
NM_001099922.3(ALG13):c.1869C>T (p.His623=) rs747208594 0.00001
NM_001099922.3(ALG13):c.1921C>G (p.His641Asp) rs760283589 0.00001
NM_001099922.3(ALG13):c.1947G>A (p.Pro649=) rs758659441 0.00001
NM_001099922.3(ALG13):c.1954G>T (p.Gly652Cys) rs1164687660 0.00001
NM_001099922.3(ALG13):c.2033_2038del (p.Tyr678_Gly680delinsCys) rs764031698 0.00001
NM_001099922.3(ALG13):c.2110C>T (p.Arg704Cys) rs767153325 0.00001
NM_001099922.3(ALG13):c.2260C>T (p.Pro754Ser) rs775045681 0.00001
NM_001099922.3(ALG13):c.2312A>G (p.His771Arg) rs756114101 0.00001
NM_001099922.3(ALG13):c.2372G>A (p.Arg791Gln) rs374290658 0.00001
NM_001099922.3(ALG13):c.2434A>G (p.Thr812Ala) rs781178409 0.00001
NM_001099922.3(ALG13):c.2564G>A (p.Cys855Tyr) rs1279923204 0.00001
NM_001099922.3(ALG13):c.2593T>C (p.Ser865Pro) rs199990990 0.00001
NM_001099922.3(ALG13):c.2607G>A (p.Ala869=) rs746842727 0.00001
NM_001099922.3(ALG13):c.2758C>A (p.Pro920Thr) rs748792396 0.00001
NM_001099922.3(ALG13):c.2834C>T (p.Pro945Leu) rs752969214 0.00001
NM_001099922.3(ALG13):c.2853G>T (p.Glu951Asp) rs755910935 0.00001
NM_001099922.3(ALG13):c.2875C>A (p.Pro959Thr) rs778329557 0.00001
NM_001099922.3(ALG13):c.2974-5T>C rs776113182 0.00001
NM_001099922.3(ALG13):c.3197A>G (p.Tyr1066Cys) rs1219035683 0.00001
NM_001099922.3(ALG13):c.3301G>C (p.Val1101Leu) rs1370248370 0.00001
NM_001099922.3(ALG13):c.426T>C (p.Ala142=) rs759472632 0.00001
NM_001099922.3(ALG13):c.486T>C (p.Phe162=) rs751015058 0.00001
NM_001099922.3(ALG13):c.652A>G (p.Asn218Asp) rs886042566 0.00001
NM_001099922.3(ALG13):c.653A>G (p.Asn218Ser) rs1381356440 0.00001
NM_001099922.3(ALG13):c.744G>A (p.Ser248=) rs755327837 0.00001
GRCh37/hg19 Xq23(chrX:110738880-110952404)x2
GRCh37/hg19 Xq23(chrX:110906272-110958618)x3
NM_001099922.3(ALG13):c.1001A>G (p.Asp334Gly) rs1940092970
NM_001099922.3(ALG13):c.1006A>G (p.Ile336Val)
NM_001099922.3(ALG13):c.1031G>A (p.Gly344Asp)
NM_001099922.3(ALG13):c.1058A>G (p.Gln353Arg) rs2148110841
NM_001099922.3(ALG13):c.1155T>G (p.Ile385Met)
NM_001099922.3(ALG13):c.1228T>C (p.Tyr410His)
NM_001099922.3(ALG13):c.124G>A (p.Gly42Ser) rs2147625157
NM_001099922.3(ALG13):c.128G>A (p.Arg43Lys) rs1057519175
NM_001099922.3(ALG13):c.1290A>G (p.Ile430Met) rs1556498080
NM_001099922.3(ALG13):c.1301A>G (p.Tyr434Cys)
NM_001099922.3(ALG13):c.1324A>G (p.Lys442Glu) rs2148136508
NM_001099922.3(ALG13):c.1334A>G (p.Glu445Gly)
NM_001099922.3(ALG13):c.1438C>G (p.Leu480Val) rs2148165155
NM_001099922.3(ALG13):c.1474C>G (p.Gln492Glu)
NM_001099922.3(ALG13):c.1501-199_1501-198del rs374664795
NM_001099922.3(ALG13):c.1651G>T (p.Val551Phe)
NM_001099922.3(ALG13):c.1709G>A (p.Gly570Glu)
NM_001099922.3(ALG13):c.1712G>A (p.Gly571Asp) rs2148191483
NM_001099922.3(ALG13):c.1799T>C (p.Met600Thr) rs2148217805
NM_001099922.3(ALG13):c.1817A>G (p.Lys606Arg)
NM_001099922.3(ALG13):c.1883A>G (p.His628Arg)
NM_001099922.3(ALG13):c.2008A>G (p.Met670Val)
NM_001099922.3(ALG13):c.2037A>C (p.Pro679=)
NM_001099922.3(ALG13):c.2091-8C>G rs939425312
NM_001099922.3(ALG13):c.2102G>A (p.Arg701His)
NM_001099922.3(ALG13):c.2108A>G (p.His703Arg)
NM_001099922.3(ALG13):c.2111G>A (p.Arg704His)
NM_001099922.3(ALG13):c.2142G>T (p.Gln714His) rs1602749741
NM_001099922.3(ALG13):c.2143T>C (p.Tyr715His)
NM_001099922.3(ALG13):c.2191A>G (p.Thr731Ala)
NM_001099922.3(ALG13):c.2237C>T (p.Pro746Leu)
NM_001099922.3(ALG13):c.2252A>T (p.His751Leu) rs1556509249
NM_001099922.3(ALG13):c.2282C>T (p.Thr761Ile) rs2148234911
NM_001099922.3(ALG13):c.2288G>C (p.Gly763Ala)
NM_001099922.3(ALG13):c.2291A>G (p.Tyr764Cys)
NM_001099922.3(ALG13):c.2324A>T (p.Lys775Ile)
NM_001099922.3(ALG13):c.2334G>C (p.Leu778Phe) rs1942288359
NM_001099922.3(ALG13):c.2337T>G (p.Asn779Lys)
NM_001099922.3(ALG13):c.2352T>A (p.Asn784Lys) rs1602753116
NM_001099922.3(ALG13):c.2369-214dup rs755444704
NM_001099922.3(ALG13):c.2380GAA[1] (p.Glu795del) rs772766102
NM_001099922.3(ALG13):c.2398G>T (p.Ala800Ser)
NM_001099922.3(ALG13):c.241G>A (p.Ala81Thr) rs1064796372
NM_001099922.3(ALG13):c.2458-1G>A rs1008287339
NM_001099922.3(ALG13):c.2458-34_2458dup rs2148313935
NM_001099922.3(ALG13):c.2465A>G (p.Gln822Arg)
NM_001099922.3(ALG13):c.2476T>A (p.Ser826Thr)
NM_001099922.3(ALG13):c.2479T>C (p.Cys827Arg)
NM_001099922.3(ALG13):c.2572A>G (p.Asn858Asp)
NM_001099922.3(ALG13):c.2585C>T (p.Pro862Leu)
NM_001099922.3(ALG13):c.2594C>T (p.Ser865Phe) rs755213977
NM_001099922.3(ALG13):c.2630C>G (p.Thr877Ser)
NM_001099922.3(ALG13):c.2639C>A (p.Ser880Tyr) rs1556517088
NM_001099922.3(ALG13):c.2668G>C (p.Val890Leu)
NM_001099922.3(ALG13):c.2680A>G (p.Thr894Ala)
NM_001099922.3(ALG13):c.2702C>G (p.Ala901Gly)
NM_001099922.3(ALG13):c.2705C>T (p.Ser902Leu)
NM_001099922.3(ALG13):c.2754ACC[10] (p.Pro941_Pro945del) rs750710267
NM_001099922.3(ALG13):c.2754ACC[11] (p.Pro942_Pro945del) rs750710267
NM_001099922.3(ALG13):c.2754ACC[14] (p.Pro945del) rs750710267
NM_001099922.3(ALG13):c.2754ACC[16] (p.Pro945dup) rs750710267
NM_001099922.3(ALG13):c.2754ACC[18] (p.Pro943_Pro945dup) rs750710267
NM_001099922.3(ALG13):c.2755C>A (p.Pro919Thr) rs1944061818
NM_001099922.3(ALG13):c.2756C>T (p.Pro919Leu)
NM_001099922.3(ALG13):c.2763A>C (p.Pro921=) rs1602887961
NM_001099922.3(ALG13):c.2768C>T (p.Pro923Leu) rs1047232159
NM_001099922.3(ALG13):c.2771C>T (p.Pro924Leu) rs2148403928
NM_001099922.3(ALG13):c.2775A>C (p.Pro925=) rs1285221362
NM_001099922.3(ALG13):c.2778A>C (p.Pro926=) rs1218547242
NM_001099922.3(ALG13):c.2781A>C (p.Pro927=) rs147870070
NM_001099922.3(ALG13):c.2793A>T (p.Pro931=)
NM_001099922.3(ALG13):c.2797CCT[10] (p.Pro943_Pro945del) rs56717389
NM_001099922.3(ALG13):c.2797CCT[11] (p.Pro944_Pro945del) rs56717389
NM_001099922.3(ALG13):c.2797CCT[12] (p.Pro945del) rs56717389
NM_001099922.3(ALG13):c.2797CCT[14] (p.Pro945dup) rs56717389
NM_001099922.3(ALG13):c.2797CCT[15] (p.Pro944_Pro945dup) rs56717389
NM_001099922.3(ALG13):c.2797CCT[8] (p.Pro941_Pro945del) rs56717389
NM_001099922.3(ALG13):c.2797CCT[9] (p.Pro942_Pro945del) rs56717389
NM_001099922.3(ALG13):c.2798_2799insACCTCC (p.Pro944_Pro945dup) rs1569522034
NM_001099922.3(ALG13):c.2828_2839del (p.Pro943_Ala946del) rs1569522062
NM_001099922.3(ALG13):c.284C>T (p.Pro95Leu) rs2147692312
NM_001099922.3(ALG13):c.2873C>T (p.Pro958Leu)
NM_001099922.3(ALG13):c.2915G>T (p.Gly972Val) rs2148407095
NM_001099922.3(ALG13):c.2974-79del rs75519151
NM_001099922.3(ALG13):c.2974-79dup rs75519151
NM_001099922.3(ALG13):c.3023AGC[2] (p.Gln1010del) rs770600982
NM_001099922.3(ALG13):c.3038T>C (p.Val1013Ala)
NM_001099922.3(ALG13):c.304G>A (p.Glu102Lys)
NM_001099922.3(ALG13):c.305A>T (p.Glu102Val)
NM_001099922.3(ALG13):c.3113G>T (p.Arg1038Ile)
NM_001099922.3(ALG13):c.3124A>G (p.Ile1042Val) rs2148514763
NM_001099922.3(ALG13):c.3149-12C>T rs1603002604
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001099922.3(ALG13):c.321T>G (p.Asn107Lys) rs748812688
NM_001099922.3(ALG13):c.3221A>G (p.Tyr1074Cys) rs372990620
NM_001099922.3(ALG13):c.3221A>T (p.Tyr1074Phe) rs372990620
NM_001099922.3(ALG13):c.3232C>T (p.Pro1078Ser)
NM_001099922.3(ALG13):c.3246T>G (p.Phe1082Leu)
NM_001099922.3(ALG13):c.3260C>T (p.Pro1087Leu) rs1945596491
NM_001099922.3(ALG13):c.327G>A (p.Gln109=) rs1602495506
NM_001099922.3(ALG13):c.3322TCT[1] (p.Ser1109del) rs1222713795
NM_001099922.3(ALG13):c.3322_3323delinsGG (p.Ser1108Gly) rs2148531992
NM_001099922.3(ALG13):c.3326C>A (p.Ser1109Tyr)
NM_001099922.3(ALG13):c.337G>A (p.Ala113Thr) rs1057521748
NM_001099922.3(ALG13):c.3385G>C (p.Ala1129Pro)
NM_001099922.3(ALG13):c.346C>T (p.Leu116=) rs1602495633
NM_001099922.3(ALG13):c.355G>C (p.Glu119Gln) rs887878543
NM_001099922.3(ALG13):c.383+2794G>A
NM_001099922.3(ALG13):c.383+2827A>C
NM_001099922.3(ALG13):c.383+2854A>C
NM_001099922.3(ALG13):c.383+2885G>A rs2147754268
NM_001099922.3(ALG13):c.383+8A>G
NM_001099922.3(ALG13):c.384G>A (p.Arg128=) rs984821885
NM_001099922.3(ALG13):c.430G>C (p.Gly144Arg)
NM_001099922.3(ALG13):c.440A>G (p.Gln147Arg) rs2147996000
NM_001099922.3(ALG13):c.473C>G (p.Ser158Ter) rs2147996566
NM_001099922.3(ALG13):c.474A>G (p.Ser158=) rs1602635527
NM_001099922.3(ALG13):c.50T>A (p.Ile17Asn) rs1569508922
NM_001099922.3(ALG13):c.518C>T (p.Ala173Val) rs188589829
NM_001099922.3(ALG13):c.539C>T (p.Pro180Leu)
NM_001099922.3(ALG13):c.568C>T (p.His190Tyr) rs1939123103
NM_001099922.3(ALG13):c.586C>T (p.Pro196Ser)
NM_001099922.3(ALG13):c.596C>A (p.Pro199His)
NM_001099922.3(ALG13):c.59T>C (p.Val20Ala) rs1057522579
NM_001099922.3(ALG13):c.632A>G (p.Tyr211Cys) rs1556483387
NM_001099922.3(ALG13):c.64G>A (p.Ala22Thr) rs1933048489
NM_001099922.3(ALG13):c.683G>A (p.Ser228Asn)
NM_001099922.3(ALG13):c.739A>G (p.Ile247Val)
NM_001099922.3(ALG13):c.74G>A (p.Ser25Asn) rs1057522540
NM_001099922.3(ALG13):c.751-8_751-6del rs765948340
NM_001099922.3(ALG13):c.82-150_82-149insCTTTA rs10674188
NM_001099922.3(ALG13):c.852T>G (p.Phe284Leu)
NM_001099922.3(ALG13):c.856A>G (p.Lys286Glu)
NM_001099922.3(ALG13):c.868C>T (p.Arg290Trp)
NM_001099922.3(ALG13):c.886-303C>G rs138878988
NM_001099922.3(ALG13):c.889A>T (p.Ser297Cys) rs372176416
NM_001099922.3(ALG13):c.896G>A (p.Gly299Asp)
NM_001099922.3(ALG13):c.912A>C (p.Arg304Ser)
NM_001099922.3(ALG13):c.92G>A (p.Ser31Asn)
NM_001099922.3(ALG13):c.931A>G (p.Asn311Asp)
NM_001099922.3(ALG13):c.932+2T>C rs2148044276
NM_001099922.3(ALG13):c.968C>T (p.Pro323Leu)
NM_001099922.3(ALG13):c.979G>A (p.Val327Ile) rs2148053185
NM_001099922.3(ALG13):c.989A>G (p.Asn330Ser)

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