ClinVar Miner

List of variants reported as benign for Occult macular dystrophy by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 246
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HGVS dbSNP gnomAD frequency
NM_178857.6(RP1L1):c.4401G>T (p.Arg1467Ser) rs4840498 0.94637
NM_178857.6(RP1L1):c.5837C>A (p.Ala1946Glu) rs11785822 0.92448
NM_178857.6(RP1L1):c.1791C>T (p.Gly597=) rs6996950 0.83140
NM_178857.6(RP1L1):c.3436C>T (p.Arg1146Trp) rs4840502 0.70110
NM_178857.6(RP1L1):c.*461T>G rs7816990 0.66630
NM_178857.6(RP1L1):c.-123C>G rs9969466 0.57812
NM_178857.6(RP1L1):c.5860A>G (p.Thr1954Ala) rs11783478 0.55174
NM_178857.6(RP1L1):c.6723A>G (p.Ser2241=) rs56382513 0.55050
NM_178857.6(RP1L1):c.2375T>C (p.Leu792Pro) rs35602868 0.45034
NM_178857.6(RP1L1):c.3956C>G (p.Ala1319Gly) rs4840501 0.44121
NM_178857.6(RP1L1):c.5126C>T (p.Ala1709Val) rs13267180 0.42095
NM_178857.6(RP1L1):c.1540G>A (p.Gly514Ser) rs74990397 0.41802
NM_178857.6(RP1L1):c.6853G>A (p.Gly2285Arg) rs55642448 0.41338
NM_178857.6(RP1L1):c.*98C>T rs12542104 0.41303
NM_178857.6(RP1L1):c.6511G>A (p.Glu2171Lys) rs4354268 0.40064
NM_178857.6(RP1L1):c.4032A>G (p.Thr1344=) rs4840499 0.34398
NM_178857.6(RP1L1):c.4019A>G (p.Glu1340Gly) rs9657518 0.28032
NM_178857.6(RP1L1):c.4484C>G (p.Pro1495Arg) rs4841399 0.28031
NM_178857.6(RP1L1):c.5666A>T (p.Asp1889Val) rs28446662 0.22939
NM_178857.6(RP1L1):c.335C>G (p.Thr112Ser) rs6601495 0.20510
NM_178857.6(RP1L1):c.665A>C (p.His222Pro) rs4388421 0.17875
NM_178857.6(RP1L1):c.*335T>G rs58309857 0.14841
NM_178857.6(RP1L1):c.*330T>G rs60196627 0.14832
NM_178857.6(RP1L1):c.4004G>T (p.Gly1335Val) rs74366179 0.14443
NM_178857.6(RP1L1):c.4020A>G (p.Glu1340=) rs78920388 0.14210
NM_178857.6(RP1L1):c.6209A>T (p.Glu2070Val) rs11782670 0.12322
NM_178857.6(RP1L1):c.2268C>T (p.Asn756=) rs57819090 0.12251
NM_178857.6(RP1L1):c.*226G>C rs12547192 0.12212
NM_178857.6(RP1L1):c.*199C>T rs12542075 0.12197
NM_178857.6(RP1L1):c.*244C>T rs12542071 0.12172
NM_178857.6(RP1L1):c.4448C>T (p.Ala1483Val) rs62490855 0.12093
NM_178857.6(RP1L1):c.2578C>T (p.Arg860Trp) rs62490856 0.11995
NM_178857.6(RP1L1):c.6264G>T (p.Gln2088His) rs11778341 0.11690
NM_178857.6(RP1L1):c.610-13G>A rs62490859 0.09888
NM_178857.6(RP1L1):c.3981A>G (p.Thr1327=) rs112656102 0.08193
NM_178857.6(RP1L1):c.3972A>G (p.Glu1324=) rs4840500 0.08185
NM_178857.6(RP1L1):c.3982G>A (p.Glu1328Lys) rs141046710 0.06937
NM_178857.6(RP1L1):c.2316G>A (p.Ser772=) rs62490857 0.06776
NM_178857.6(RP1L1):c.1460C>T (p.Ala487Val) rs74400517 0.06746
NM_178857.6(RP1L1):c.3979A>G (p.Thr1327Ala) rs139405108 0.05322
NM_178857.6(RP1L1):c.6596C>T (p.Pro2199Leu) rs75797924 0.04990
NM_178857.6(RP1L1):c.5447G>A (p.Gly1816Asp) rs79019225 0.03567
NM_178857.6(RP1L1):c.5519C>G (p.Ala1840Gly) rs77968698 0.03533
NM_178857.6(RP1L1):c.3961C>G (p.Gln1321Glu) rs200373757 0.03198
NM_178857.6(RP1L1):c.7004A>G (p.His2335Arg) rs117007660 0.03149
NM_178857.6(RP1L1):c.4003G>A (p.Gly1335Arg) rs61503212 0.02991
NM_178857.6(RP1L1):c.5997T>C (p.Asp1999=) rs78593181 0.02410
NM_178857.6(RP1L1):c.6718G>C (p.Glu2240Gln) rs80000074 0.02346
NM_178857.6(RP1L1):c.6674C>T (p.Pro2225Leu) rs74968439 0.02342
NM_178857.6(RP1L1):c.844A>C (p.Asn282His) rs75814156 0.02124
NM_178857.6(RP1L1):c.*27del rs143284016 0.02027
NM_178857.6(RP1L1):c.1478G>A (p.Arg493Gln) rs79401306 0.02007
NM_178857.6(RP1L1):c.2172G>A (p.Ser724=) rs73662876 0.01891
NM_178857.6(RP1L1):c.2780C>A (p.Thr927Asn) rs77230188 0.01852
NM_178857.6(RP1L1):c.33G>A (p.Pro11=) rs80059299 0.01638
NM_178857.6(RP1L1):c.547G>A (p.Gly183Ser) rs115126172 0.01518
NM_178857.6(RP1L1):c.*356C>G rs79353166 0.01403
NM_178857.6(RP1L1):c.850C>G (p.Pro284Ala) rs76756822 0.01307
NM_178857.6(RP1L1):c.501A>G (p.Thr167=) rs79329877 0.01208
NM_178857.6(RP1L1):c.4091G>C (p.Gly1364Ala) rs116752225 0.01122
NM_178857.6(RP1L1):c.2620G>A (p.Gly874Ser) rs12114682 0.01105
NM_178857.6(RP1L1):c.5761A>C (p.Ser1921Arg) rs149704659 0.01088
NM_178857.6(RP1L1):c.1779G>A (p.Thr593=) rs78127667 0.00995
NM_178857.6(RP1L1):c.4620G>C (p.Glu1540Asp) rs115884793 0.00966
NM_178857.6(RP1L1):c.130C>G (p.Pro44Ala) rs140397694 0.00956
NM_178857.6(RP1L1):c.6816C>T (p.Val2272=) rs74638396 0.00932
NM_178857.6(RP1L1):c.1691C>G (p.Ser564Cys) rs77585543 0.00860
NM_178857.6(RP1L1):c.*332G>A rs145601298 0.00794
NM_178857.6(RP1L1):c.4478C>T (p.Ala1493Val) rs138261433 0.00697
NM_178857.6(RP1L1):c.4865G>A (p.Arg1622Gln) rs151260617 0.00629
NM_178857.6(RP1L1):c.420C>A (p.Gly140=) rs79465957 0.00615
NM_178857.6(RP1L1):c.4105G>A (p.Glu1369Lys) rs116242305 0.00613
NM_178857.6(RP1L1):c.6545C>A (p.Ala2182Asp) rs183570817 0.00545
NM_178857.6(RP1L1):c.4031C>T (p.Thr1344Ile) rs201309656 0.00533
NM_178857.6(RP1L1):c.3955G>A (p.Ala1319Thr) rs73201156 0.00515
NM_178857.6(RP1L1):c.4028A>T (p.Glu1343Val) rs760625445 0.00494
NM_178857.6(RP1L1):c.6344G>A (p.Gly2115Asp) rs139374902 0.00407
NM_178857.6(RP1L1):c.5421C>G (p.Gly1807=) rs77593247 0.00385
NM_178857.6(RP1L1):c.*513G>C rs181865746 0.00378
NM_178857.6(RP1L1):c.*444T>A rs530449457 0.00377
NM_178857.6(RP1L1):c.6916T>A (p.Trp2306Arg) rs200403049 0.00377
NM_178857.6(RP1L1):c.1320C>T (p.His440=) rs137914071 0.00348
NM_178857.6(RP1L1):c.4044A>G (p.Gly1348=) rs13253055 0.00337
NM_178857.6(RP1L1):c.4046A>T (p.Gln1349Leu) rs13253053 0.00333
NM_178857.6(RP1L1):c.814C>G (p.Pro272Ala) rs77833234 0.00314
NM_178857.6(RP1L1):c.6812C>G (p.Pro2271Arg) rs183232880 0.00297
NM_178857.6(RP1L1):c.2238G>A (p.Ser746=) rs190077685 0.00294
NM_178857.6(RP1L1):c.4906G>A (p.Glu1636Lys) rs80094376 0.00276
NM_178857.6(RP1L1):c.2644C>T (p.Arg882Trp) rs148936402 0.00253
NM_178857.6(RP1L1):c.7047T>C (p.Thr2349=) rs202213014 0.00218
NM_178857.6(RP1L1):c.2977G>A (p.Asp993Asn) rs144078596 0.00217
NM_178857.6(RP1L1):c.3554G>A (p.Gly1185Glu) rs75613131 0.00217
NM_178857.6(RP1L1):c.32C>T (p.Pro11Leu) rs199642627 0.00215
NM_178857.6(RP1L1):c.444T>G (p.Leu148=) rs112609335 0.00208
NM_178857.6(RP1L1):c.4953G>A (p.Ala1651=) rs79563676 0.00207
NM_178857.6(RP1L1):c.273C>T (p.Ser91=) rs201810499 0.00200
NM_178857.6(RP1L1):c.5618A>T (p.Asp1873Val) rs200622636 0.00199
NM_178857.6(RP1L1):c.1138G>A (p.Gly380Arg) rs184332984 0.00198
NM_178857.6(RP1L1):c.4444G>A (p.Gly1482Arg) rs190000469 0.00195
NM_178857.6(RP1L1):c.5577T>G (p.Asp1859Glu) rs527932965 0.00195
NM_178857.6(RP1L1):c.4797G>T (p.Leu1599=) rs368140961 0.00194
NM_178857.6(RP1L1):c.6992C>T (p.Thr2331Met) rs147334256 0.00192
NM_178857.6(RP1L1):c.899C>T (p.Ser300Leu) rs200642524 0.00172
NM_178857.6(RP1L1):c.1297C>T (p.Arg433Cys) rs199589914 0.00168
NM_178857.6(RP1L1):c.1795G>A (p.Glu599Lys) rs150491290 0.00160
NM_178857.6(RP1L1):c.217C>T (p.Pro73Ser) rs202082944 0.00158
NM_178857.6(RP1L1):c.568C>T (p.Arg190Cys) rs202110498 0.00158
NM_178857.6(RP1L1):c.3263C>T (p.Ala1088Val) rs200477735 0.00145
NM_178857.6(RP1L1):c.2899G>A (p.Glu967Lys) rs201302817 0.00141
NM_178857.6(RP1L1):c.2319G>A (p.Pro773=) rs376509567 0.00130
NM_178857.6(RP1L1):c.3067G>C (p.Glu1023Gln) rs201996553 0.00125
NM_178857.6(RP1L1):c.5959C>T (p.Gln1987Ter) rs200846354 0.00124
NM_178857.6(RP1L1):c.2923T>A (p.Leu975Met) rs146002320 0.00116
NM_178857.6(RP1L1):c.156C>T (p.Ala52=) rs78501382 0.00112
NM_178857.6(RP1L1):c.5138C>A (p.Thr1713Asn) rs200130856 0.00104
NM_178857.6(RP1L1):c.4323G>A (p.Pro1441=) rs199802369 0.00103
NM_178857.6(RP1L1):c.4514C>T (p.Ser1505Leu) rs202068070 0.00096
NM_178857.6(RP1L1):c.1599G>A (p.Ser533=) rs201785951 0.00087
NM_178857.6(RP1L1):c.652G>T (p.Val218Leu) rs77679870 0.00087
NM_178857.6(RP1L1):c.5713G>A (p.Gly1905Ser) rs202121941 0.00084
NM_178857.6(RP1L1):c.2643C>T (p.Ala881=) rs374382227 0.00081
NM_178857.6(RP1L1):c.2154C>A (p.Asn718Lys) rs181556707 0.00079
NM_178857.6(RP1L1):c.3514C>A (p.Leu1172Ile) rs143870426 0.00076
NM_178857.6(RP1L1):c.1434C>T (p.Asp478=) rs138367868 0.00075
NM_178857.6(RP1L1):c.5452G>A (p.Ala1818Thr) rs199701906 0.00073
NM_178857.6(RP1L1):c.3255C>G (p.Ile1085Met) rs150752593 0.00069
NM_178857.6(RP1L1):c.249A>G (p.Thr83=) rs201392821 0.00067
NM_178857.6(RP1L1):c.3027G>A (p.Ala1009=) rs201640796 0.00061
NM_178857.6(RP1L1):c.4061C>T (p.Ala1354Val) rs201532540 0.00061
NM_178857.6(RP1L1):c.1128C>G (p.Phe376Leu) rs372681428 0.00057
NM_178857.6(RP1L1):c.6600G>A (p.Glu2200=) rs192990137 0.00053
NM_178857.6(RP1L1):c.1273A>C (p.Arg425=) rs377274495 0.00049
NM_178857.6(RP1L1):c.77C>T (p.Ser26Leu) rs185749010 0.00049
NM_178857.6(RP1L1):c.-153C>A rs570111920 0.00043
NM_178857.6(RP1L1):c.190C>T (p.Leu64Phe) rs202081611 0.00043
NM_178857.6(RP1L1):c.487C>G (p.Arg163Gly) rs187140236 0.00041
NM_178857.6(RP1L1):c.5284G>A (p.Glu1762Lys) rs141128719 0.00041
NM_178857.6(RP1L1):c.2583C>T (p.Pro861=) rs191393277 0.00040
NM_178857.6(RP1L1):c.1762G>T (p.Asp588Tyr) rs200344135 0.00038
NM_178857.6(RP1L1):c.622C>A (p.Gln208Lys) rs201753844 0.00035
NM_178857.6(RP1L1):c.198C>T (p.Asp66=) rs148800956 0.00034
NM_178857.6(RP1L1):c.6159C>T (p.Asp2053=) rs368139274 0.00034
NM_178857.6(RP1L1):c.906G>A (p.Pro302=) rs368862886 0.00033
NM_178857.6(RP1L1):c.5727G>A (p.Pro1909=) rs144541636 0.00032
NM_178857.6(RP1L1):c.954C>T (p.Asp318=) rs200317816 0.00031
NM_178857.6(RP1L1):c.6276G>A (p.Gly2092=) rs201438192 0.00030
NM_178857.6(RP1L1):c.1035G>A (p.Arg345=) rs73201157 0.00027
NM_178857.6(RP1L1):c.352C>T (p.Arg118Trp) rs200121539 0.00024
NM_178857.6(RP1L1):c.4062G>A (p.Ala1354=) rs375108865 0.00024
NM_178857.6(RP1L1):c.6611A>C (p.Glu2204Ala) rs200588941 0.00024
NM_178857.6(RP1L1):c.3201C>T (p.Gly1067=) rs200462441 0.00023
NM_178857.6(RP1L1):c.5793C>T (p.Asp1931=) rs747180512 0.00023
NM_178857.6(RP1L1):c.*38C>G rs374533327 0.00021
NM_178857.6(RP1L1):c.1290G>T (p.Gln430His) rs142459130 0.00021
NM_178857.6(RP1L1):c.6902C>G (p.Ser2301Cys) rs199631825 0.00020
NM_178857.6(RP1L1):c.213C>T (p.Arg71=) rs182267291 0.00019
NM_178857.6(RP1L1):c.4275C>A (p.Asp1425Glu) rs182279724 0.00016
NM_178857.6(RP1L1):c.6644C>T (p.Pro2215Leu) rs187850525 0.00016
NM_178857.6(RP1L1):c.3691C>T (p.Pro1231Ser) rs201440296 0.00015
NM_178857.6(RP1L1):c.289G>C (p.Glu97Gln) rs142083988 0.00014
NM_178857.6(RP1L1):c.5348C>T (p.Ala1783Val) rs374403002 0.00014
NM_178857.6(RP1L1):c.2396C>T (p.Thr799Met) rs371519198 0.00012
NM_178857.6(RP1L1):c.2849G>A (p.Arg950His) rs201968725 0.00012
NM_178857.6(RP1L1):c.488G>A (p.Arg163His) rs182807255 0.00012
NM_178857.6(RP1L1):c.1605G>A (p.Ser535=) rs200772091 0.00011
NM_178857.6(RP1L1):c.2049C>T (p.Thr683=) rs146670053 0.00011
NM_178857.6(RP1L1):c.3231C>G (p.Gly1077=) rs779905669 0.00011
NM_178857.6(RP1L1):c.3569C>T (p.Thr1190Met) rs200415537 0.00011
NM_178857.6(RP1L1):c.4482A>G (p.Gln1494=) rs201357374 0.00011
NM_178857.6(RP1L1):c.134G>A (p.Arg45Gln) rs770740394 0.00010
NM_178857.6(RP1L1):c.1555G>A (p.Gly519Ser) rs775657453 0.00010
NM_178857.6(RP1L1):c.2568G>A (p.Pro856=) rs367933781 0.00010
NM_178857.6(RP1L1):c.793C>G (p.Arg265Gly) rs367838293 0.00010
NM_178857.6(RP1L1):c.2516G>A (p.Arg839Gln) rs375534027 0.00009
NM_178857.6(RP1L1):c.2850C>T (p.Arg950=) rs542085308 0.00009
NM_178857.6(RP1L1):c.5224G>A (p.Glu1742Lys) rs558895396 0.00009
NM_178857.6(RP1L1):c.6174G>A (p.Pro2058=) rs200660179 0.00008
NM_178857.6(RP1L1):c.6431A>C (p.Glu2144Ala) rs369287525 0.00008
NM_178857.6(RP1L1):c.2174G>T (p.Gly725Val) rs529460241 0.00007
NM_178857.6(RP1L1):c.2791G>C (p.Gly931Arg) rs200981366 0.00006
NM_178857.6(RP1L1):c.2928G>A (p.Ala976=) rs770072844 0.00006
NM_178857.6(RP1L1):c.3053C>A (p.Pro1018His) rs200191362 0.00006
NM_178857.6(RP1L1):c.3660C>T (p.Asp1220=) rs375441998 0.00006
NM_178857.6(RP1L1):c.670G>A (p.Ala224Thr) rs117547822 0.00006
NM_178857.6(RP1L1):c.792G>A (p.Ser264=) rs567914782 0.00006
NM_178857.6(RP1L1):c.2441A>G (p.Glu814Gly) rs190447684 0.00005
NM_178857.6(RP1L1):c.328C>T (p.Pro110Ser) rs773440242 0.00005
NM_178857.6(RP1L1):c.3340T>A (p.Ser1114Thr) rs559059729 0.00005
NM_178857.6(RP1L1):c.3914A>G (p.Glu1305Gly) rs762801175 0.00005
NM_178857.6(RP1L1):c.4577C>T (p.Thr1526Met) rs267601688 0.00005
NM_178857.6(RP1L1):c.5794G>A (p.Glu1932Lys) rs199991672 0.00005
NM_178857.6(RP1L1):c.6322G>A (p.Gly2108Arg) rs187998469 0.00005
NM_178857.6(RP1L1):c.*200G>A rs544642796 0.00004
NM_178857.6(RP1L1):c.2465G>A (p.Arg822Gln) rs750002050 0.00004
NM_178857.6(RP1L1):c.253C>T (p.Arg85Trp) rs779469547 0.00004
NM_178857.6(RP1L1):c.2991C>G (p.Asp997Glu) rs188482891 0.00003
NM_178857.6(RP1L1):c.3026C>T (p.Ala1009Val) rs751300307 0.00003
NM_178857.6(RP1L1):c.4198C>A (p.Pro1400Thr) rs201750918 0.00003
NM_178857.6(RP1L1):c.4788C>T (p.Thr1596=) rs536918805 0.00003
NM_178857.6(RP1L1):c.5483A>C (p.Gln1828Pro) rs772616971 0.00003
NM_178857.6(RP1L1):c.5598G>T (p.Glu1866Asp) rs181718385 0.00003
NM_178857.6(RP1L1):c.940C>T (p.Arg314Cys) rs777582995 0.00003
NM_178857.6(RP1L1):c.-8C>T rs775803948 0.00002
NM_178857.6(RP1L1):c.1763A>G (p.Asp588Gly) rs770348021 0.00002
NM_178857.6(RP1L1):c.5643A>G (p.Gly1881=) rs112534810 0.00002
NM_178857.6(RP1L1):c.6689C>T (p.Thr2230Ile) rs573617450 0.00002
NM_178857.6(RP1L1):c.2696C>T (p.Pro899Leu) rs779849753 0.00001
NM_178857.6(RP1L1):c.45G>A (p.Glu15=) rs761396117 0.00001
NM_178857.6(RP1L1):c.6993G>A (p.Thr2331=) rs533478971 0.00001
NM_178857.6(RP1L1):c.*266C>T rs557198895
NM_178857.6(RP1L1):c.1386C>T (p.Pro462=) rs75355484
NM_178857.6(RP1L1):c.1551A>G (p.Gln517=) rs761588903
NM_178857.6(RP1L1):c.166C>T (p.Arg56Cys) rs150931842
NM_178857.6(RP1L1):c.168C>A (p.Arg56=) rs187433303
NM_178857.6(RP1L1):c.1811C>T (p.Ala604Val) rs200118556
NM_178857.6(RP1L1):c.2127G>A (p.Ser709=) rs367955605
NM_178857.6(RP1L1):c.2191G>A (p.Asp731Asn) rs768251529
NM_178857.6(RP1L1):c.2365G>A (p.Ala789Thr) rs535712025
NM_178857.6(RP1L1):c.2499G>A (p.Pro833=) rs373310698
NM_178857.6(RP1L1):c.24C>G (p.Ala8=) rs374965485
NM_178857.6(RP1L1):c.2848C>G (p.Arg950Gly) rs200245949
NM_178857.6(RP1L1):c.2848C>T (p.Arg950Cys) rs200245949
NM_178857.6(RP1L1):c.3122G>C (p.Gly1041Ala) rs570355453
NM_178857.6(RP1L1):c.3303C>G (p.Pro1101=) rs374612639
NM_178857.6(RP1L1):c.3582G>T (p.Thr1194=) rs200519322
NM_178857.6(RP1L1):c.3956C>T (p.Ala1319Val) rs4840501
NM_178857.6(RP1L1):c.3978_3979insGAA (p.Lys1326_Thr1327insGlu) rs146656804
NM_178857.6(RP1L1):c.3980C>T (p.Thr1327Ile) rs143544262
NM_178857.6(RP1L1):c.3983A>T (p.Glu1328Val) rs141205444
NM_178857.6(RP1L1):c.4069G>A (p.Glu1357Lys) rs757271707
NM_178857.6(RP1L1):c.4440G>A (p.Pro1480=) rs76720252
NM_178857.6(RP1L1):c.4440G>T (p.Pro1480=) rs76720252
NM_178857.6(RP1L1):c.4662C>G (p.Asp1554Glu) rs374521681
NM_178857.6(RP1L1):c.4671G>A (p.Ala1557=) rs150438402
NM_178857.6(RP1L1):c.489C>A (p.Arg163=) rs201167741
NM_178857.6(RP1L1):c.4905C>T (p.Asp1635=) rs200540100
NM_178857.6(RP1L1):c.5211G>A (p.Gly1737=) rs201594207
NM_178857.6(RP1L1):c.5589T>A (p.Ala1863=) rs199577777
NM_178857.6(RP1L1):c.5618A>G (p.Asp1873Gly) rs200622636
NM_178857.6(RP1L1):c.5646G>T (p.Glu1882Asp) rs111646478
NM_178857.6(RP1L1):c.5821C>G (p.Gln1941Glu) rs201017122
NM_178857.6(RP1L1):c.594G>A (p.Thr198=) rs778582315
NM_178857.6(RP1L1):c.6418G>A (p.Glu2140Lys) rs72494282
NM_178857.6(RP1L1):c.7143C>A (p.Leu2381=) rs112520779
NM_178857.6(RP1L1):c.776C>A (p.Pro259Gln) rs374097176
NM_178857.6(RP1L1):c.851C>T (p.Pro284Leu) rs74594406

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