ClinVar Miner

List of variants in gene combination GH-LCR, SCN4A reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 262
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HGVS dbSNP gnomAD frequency
NM_000334.4(SCN4A):c.4017+240T>C rs8074344 0.61842
NM_000334.4(SCN4A):c.4017+268C>T rs8074752 0.61705
NM_000334.4(SCN4A):c.4126A>G (p.Asn1376Asp) rs2058194 0.59717
NM_000334.4(SCN4A):c.4869A>G (p.Thr1623=) rs2070720 0.43390
NM_000334.4(SCN4A):c.3442-130G>A rs11657448 0.27202
NM_000334.4(SCN4A):c.4017+103C>A rs35501848 0.27107
NM_000334.4(SCN4A):c.3913-164G>A rs11869827 0.27059
NM_000334.4(SCN4A):c.3318+12C>A rs13341114 0.26769
NM_000334.4(SCN4A):c.*1427T>C rs2727278 0.18159
NM_000334.4(SCN4A):c.*1271T>A rs2727277 0.18122
NM_000334.4(SCN4A):c.*22A>G rs2228995 0.17899
NM_000334.4(SCN4A):c.4539C>A (p.Ile1513=) rs56342400 0.16783
NM_000334.4(SCN4A):c.5478T>G (p.Thr1826=) rs2227906 0.15916
NM_000334.4(SCN4A):c.4289-280_4289-268del rs551182184 0.12619
NM_000334.4(SCN4A):c.5403C>T (p.Ala1801=) rs2227907 0.12581
NM_000334.4(SCN4A):c.3913-102C>T rs8079073 0.09463
NM_000334.4(SCN4A):c.2631T>C (p.Asp877=) rs79893125 0.08466
NM_000334.4(SCN4A):c.2376+43G>A rs60037396 0.08251
NM_000334.4(SCN4A):c.*1737A>G rs16947276 0.06978
NM_000334.4(SCN4A):c.3913-170G>A rs60444956 0.06396
NM_000334.4(SCN4A):c.*1357A>G rs113012761 0.05971
NM_000334.4(SCN4A):c.*122G>A rs2228997 0.05774
NM_000334.4(SCN4A):c.3441+164G>C rs8075954 0.05015
NM_000334.4(SCN4A):c.2020-49G>A rs114409098 0.03315
NM_000334.4(SCN4A):c.3145-164C>T rs73992418 0.03170
NM_000334.4(SCN4A):c.2919C>T (p.Pro973=) rs73992419 0.03148
NM_000334.4(SCN4A):c.4288+10G>T rs114059193 0.03137
NM_000334.4(SCN4A):c.3720+50C>G rs116306098 0.03046
NM_000334.4(SCN4A):c.3144+141G>A rs16947283 0.03045
NM_000334.4(SCN4A):c.4018-222A>T rs12949493 0.02695
NM_000334.4(SCN4A):c.2854-153A>G rs114603084 0.02430
NM_000334.4(SCN4A):c.3720+10A>G rs111679484 0.02281
NM_000334.4(SCN4A):c.2989+5G>A rs115695396 0.02066
NM_000334.4(SCN4A):c.3759C>T (p.Ala1253=) rs72851170 0.01961
NM_000334.4(SCN4A):c.2853+30C>T rs116055964 0.01785
NM_000334.4(SCN4A):c.4017+15G>T rs77844100 0.01755
NM_000334.4(SCN4A):c.2020-252C>T rs77739011 0.01721
NM_000334.4(SCN4A):c.2854-220C>T rs79040268 0.01711
NM_000334.4(SCN4A):c.*1368G>C rs113385942 0.01686
NM_000334.4(SCN4A):c.3441+102G>A rs8076075 0.01654
NM_000334.4(SCN4A):c.*1677_*1678insAT rs397797581 0.01652
NM_000334.4(SCN4A):c.4905C>T (p.Ile1635=) rs59081944 0.01571
NM_000334.4(SCN4A):c.3912+91G>A rs115320521 0.01513
NM_000334.4(SCN4A):c.*332C>T rs77962116 0.01507
NM_000334.4(SCN4A):c.2289C>T (p.Ile763=) rs76894284 0.01359
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr) rs41280102 0.01003
NM_000334.4(SCN4A):c.*1696C>G rs367738763 0.00979
NM_000334.4(SCN4A):c.*1989C>T rs77615646 0.00968
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884 0.00873
NM_000334.4(SCN4A):c.3720+9G>T rs9303466 0.00769
NM_000334.4(SCN4A):c.*1088A>G rs77725962 0.00759
NM_000334.4(SCN4A):c.2376+321G>A rs111298169 0.00754
NC_000017.11:g.63938400G>A rs183187580 0.00744
NM_000334.4(SCN4A):c.3441+7G>A rs142270113 0.00738
NM_000334.4(SCN4A):c.5499G>A (p.Glu1833=) rs116469710 0.00716
NM_000334.4(SCN4A):c.*1215G>A rs112758825 0.00696
NM_000334.4(SCN4A):c.4288+256C>T rs112472383 0.00682
NM_000334.4(SCN4A):c.4288+320T>C rs112527704 0.00674
NM_000334.4(SCN4A):c.2376+87A>G rs142948938 0.00607
NM_000334.4(SCN4A):c.2854-211C>T rs529705195 0.00589
NM_000334.4(SCN4A):c.3912+277G>A rs9892556 0.00569
NM_000334.4(SCN4A):c.3774+88C>T rs140987365 0.00459
NM_000334.4(SCN4A):c.4288+197A>C rs2058193 0.00459
NM_000334.4(SCN4A):c.3775-38G>A rs9899194 0.00398
NM_000334.4(SCN4A):c.2645C>A (p.Pro882Gln) rs111858905 0.00367
NM_000334.4(SCN4A):c.2020-207G>A rs544164156 0.00353
NM_000334.4(SCN4A):c.4289-70C>T rs148868349 0.00351
NM_000334.4(SCN4A):c.5190C>T (p.Cys1730=) rs113277954 0.00347
NM_000334.4(SCN4A):c.2748C>G (p.Asn916Lys) rs115379510 0.00253
NM_000334.4(SCN4A):c.3319-177C>T rs72851171 0.00231
NM_000334.4(SCN4A):c.2722G>A (p.Glu908Lys) rs117664682 0.00186
NM_000334.4(SCN4A):c.4215C>T (p.Leu1405=) rs141215137 0.00153
NM_000334.4(SCN4A):c.3774+7C>T rs199659791 0.00149
NM_000334.4(SCN4A):c.2623C>T (p.Pro875Ser) rs201148948 0.00134
NM_000334.4(SCN4A):c.2854-5C>T rs374039266 0.00133
NM_000334.4(SCN4A):c.2890G>A (p.Val964Ile) rs200947169 0.00117
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) rs202106192 0.00108
NM_000334.4(SCN4A):c.2478C>T (p.Ile826=) rs371914255 0.00105
NM_000334.4(SCN4A):c.4508A>G (p.Asn1503Ser) rs114900922 0.00070
NM_000334.4(SCN4A):c.2188G>A (p.Val730Met) rs113462659 0.00058
NM_000334.4(SCN4A):c.3001C>T (p.Arg1001Cys) rs199713025 0.00048
NM_000334.4(SCN4A):c.2697G>A (p.Leu899=) rs199827271 0.00044
NM_000334.4(SCN4A):c.3429C>T (p.Phe1143=) rs373597946 0.00038
NM_000334.4(SCN4A):c.2200G>T (p.Ala734Ser) rs199651516 0.00030
NM_000334.4(SCN4A):c.5181G>A (p.Glu1727=) rs368263333 0.00027
NM_000334.4(SCN4A):c.2955C>T (p.Pro985=) rs375621334 0.00026
NM_000334.4(SCN4A):c.2995G>A (p.Val999Met) rs377277110 0.00026
NM_000334.4(SCN4A):c.5366C>T (p.Ser1789Leu) rs201414160 0.00022
NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser) rs200517944 0.00021
NM_000334.4(SCN4A):c.3285C>T (p.Asn1095=) rs371401377 0.00018
NM_000334.4(SCN4A):c.2185T>C (p.Cys729Arg) rs200025736 0.00013
NM_000334.4(SCN4A):c.4517A>T (p.Tyr1506Phe) rs762311521 0.00013
NM_000334.4(SCN4A):c.2824G>A (p.Asp942Asn) rs761589948 0.00012
NM_000334.4(SCN4A):c.2563A>G (p.Met855Val) rs372019457 0.00011
NM_000334.4(SCN4A):c.3774+20A>G rs377552760 0.00011
NM_000334.4(SCN4A):c.4334C>T (p.Thr1445Met) rs200481981 0.00011
NM_000334.4(SCN4A):c.5410A>G (p.Thr1804Ala) rs372635510 0.00011
NM_000334.4(SCN4A):c.4410G>A (p.Thr1470=) rs534861830 0.00010
NM_000334.4(SCN4A):c.4644C>T (p.Ser1548=) rs751973449 0.00010
NM_000334.4(SCN4A):c.5401G>A (p.Ala1801Thr) rs201192904 0.00010
NM_000334.4(SCN4A):c.5415G>A (p.Met1805Ile) rs368984178 0.00010
NM_000334.4(SCN4A):c.5468C>G (p.Pro1823Arg) rs376833596 0.00010
NM_000334.4(SCN4A):c.2130C>T (p.Ile710=) rs776552053 0.00009
NM_000334.4(SCN4A):c.2421C>T (p.Ala807=) rs540328974 0.00009
NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp) rs759982229 0.00009
NM_000334.4(SCN4A):c.4886C>T (p.Pro1629Leu) rs202102815 0.00009
NM_000334.4(SCN4A):c.3084C>A (p.Val1028=) rs377273244 0.00008
NM_000334.4(SCN4A):c.4386C>G (p.Ile1462Met) rs763827415 0.00008
NM_000334.4(SCN4A):c.5404G>A (p.Gly1802Arg) rs267604988 0.00007
NM_000334.4(SCN4A):c.2448T>C (p.Asp816=) rs150307926 0.00006
NM_000334.4(SCN4A):c.4609G>A (p.Gly1537Ser) rs571210585 0.00006
NM_000334.4(SCN4A):c.4680G>A (p.Pro1560=) rs370207597 0.00006
NM_000334.4(SCN4A):c.5343C>T (p.Gly1781=) rs745441690 0.00005
NM_000334.4(SCN4A):c.2452G>A (p.Glu818Lys) rs541785064 0.00004
NM_000334.4(SCN4A):c.3185G>A (p.Arg1062His) rs769704334 0.00004
NM_000334.4(SCN4A):c.3442-18G>T rs377676692 0.00004
NM_000334.4(SCN4A):c.3835A>G (p.Ile1279Val) rs367610608 0.00004
NM_000334.4(SCN4A):c.4034T>C (p.Met1345Thr) rs543985308 0.00004
NM_000334.4(SCN4A):c.4288+6C>T rs148187651 0.00004
NM_000334.4(SCN4A):c.5126A>G (p.Asn1709Ser) rs766365683 0.00004
NM_000334.4(SCN4A):c.2574C>T (p.Leu858=) rs184107335 0.00003
NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln) rs527236149 0.00003
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) rs80338958 0.00003
NM_000334.4(SCN4A):c.4010G>A (p.Arg1337Gln) rs779953580 0.00003
NM_000334.4(SCN4A):c.4378C>T (p.Arg1460Trp) rs368256039 0.00003
NM_000334.4(SCN4A):c.4387C>A (p.Arg1463Ser) rs774453167 0.00003
NM_000334.4(SCN4A):c.4704C>T (p.Cys1568=) rs548305586 0.00003
NM_000334.4(SCN4A):c.5191G>A (p.Ala1731Thr) rs371104286 0.00003
NM_000334.4(SCN4A):c.5482C>T (p.Arg1828Cys) rs758511540 0.00003
NM_000334.4(SCN4A):c.2146G>A (p.Val716Met) rs773527089 0.00002
NM_000334.4(SCN4A):c.2198T>C (p.Ile733Thr) rs753865616 0.00002
NM_000334.4(SCN4A):c.2356A>G (p.Met786Val) rs778729831 0.00002
NM_000334.4(SCN4A):c.2420C>T (p.Ala807Val) rs749013806 0.00002
NM_000334.4(SCN4A):c.2483G>A (p.Arg828His) rs556099012 0.00002
NM_000334.4(SCN4A):c.2778C>T (p.Ile926=) rs769634298 0.00002
NM_000334.4(SCN4A):c.2861C>T (p.Pro954Leu) rs201367621 0.00002
NM_000334.4(SCN4A):c.3205G>A (p.Asp1069Asn) rs373150395 0.00002
NM_000334.4(SCN4A):c.3385C>T (p.Arg1129Trp) rs772071113 0.00002
NM_000334.4(SCN4A):c.3525C>T (p.Ser1175=) rs750868036 0.00002
NM_000334.4(SCN4A):c.3622G>C (p.Glu1208Gln) rs754401226 0.00002
NM_000334.4(SCN4A):c.3688G>A (p.Val1230Met) rs778820577 0.00002
NM_000334.4(SCN4A):c.4359G>A (p.Ala1453=) rs757915411 0.00002
NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr) rs377176361 0.00002
NM_000334.4(SCN4A):c.4949C>T (p.Pro1650Leu) rs774183791 0.00002
NM_000334.4(SCN4A):c.5086G>A (p.Ala1696Thr) rs769365503 0.00002
NM_000334.4(SCN4A):c.5234G>A (p.Arg1745His) rs376526108 0.00002
NM_000334.4(SCN4A):c.2023C>T (p.Arg675Trp) rs121908556 0.00001
NM_000334.4(SCN4A):c.2055G>A (p.Thr685=) rs766227475 0.00001
NM_000334.4(SCN4A):c.2083A>G (p.Asn695Asp) rs1327920743 0.00001
NM_000334.4(SCN4A):c.2223C>T (p.Arg741=) rs1041781133 0.00001
NM_000334.4(SCN4A):c.2234A>G (p.His745Arg) rs762279435 0.00001
NM_000334.4(SCN4A):c.2267G>A (p.Arg756His) rs1343607212 0.00001
NM_000334.4(SCN4A):c.2346C>A (p.Phe782Leu) rs745492332 0.00001
NM_000334.4(SCN4A):c.2386C>T (p.Leu796=) rs750053946 0.00001
NM_000334.4(SCN4A):c.2587G>A (p.Gly863Arg) rs752706137 0.00001
NM_000334.4(SCN4A):c.2693G>A (p.Gly898Asp) rs760713282 0.00001
NM_000334.4(SCN4A):c.2713T>A (p.Ser905Thr) rs779100982 0.00001
NM_000334.4(SCN4A):c.2812G>A (p.Glu938Lys) rs374673348 0.00001
NM_000334.4(SCN4A):c.3395G>A (p.Arg1132Gln) rs80338789 0.00001
NM_000334.4(SCN4A):c.3441+4G>A rs765176007 0.00001
NM_000334.4(SCN4A):c.3443T>C (p.Val1148Ala) rs1908692504 0.00001
NM_000334.4(SCN4A):c.3465C>T (p.Gly1155=) rs566581547 0.00001
NM_000334.4(SCN4A):c.3774+9G>A rs370756492 0.00001
NM_000334.4(SCN4A):c.3877G>A (p.Val1293Ile) rs121908551 0.00001
NM_000334.4(SCN4A):c.3917G>C (p.Gly1306Ala) rs80338792 0.00001
NM_000334.4(SCN4A):c.3936G>C (p.Met1312Ile) rs1567817375 0.00001
NM_000334.4(SCN4A):c.3963C>T (p.Asn1321=) rs747602881 0.00001
NM_000334.4(SCN4A):c.4009C>T (p.Arg1337Trp) rs779717594 0.00001
NM_000334.4(SCN4A):c.4080G>C (p.Met1360Ile) rs774789710 0.00001
NM_000334.4(SCN4A):c.4390G>A (p.Gly1464Arg) rs150423825 0.00001
NM_000334.4(SCN4A):c.4484T>C (p.Ile1495Thr) rs1318966106 0.00001
NM_000334.4(SCN4A):c.4764C>A (p.Ile1588=) rs768778696 0.00001
NM_000334.4(SCN4A):c.4937C>A (p.Thr1646Asn) rs1345007864 0.00001
NM_000334.4(SCN4A):c.5023C>T (p.His1675Tyr) rs767464961 0.00001
NC_000017.11:g.63938510C>A rs73326323
NM_000334.4(SCN4A):c.*1185_*1186insCTGGAGAGCAGAGGCTGTGCCCAG rs11270863
NM_000334.4(SCN4A):c.*1384ATATATGTGT[3] rs112489358
NM_000334.4(SCN4A):c.*1679TG[7] rs66908473
NM_000334.4(SCN4A):c.2078T>C (p.Ile693Thr) rs80338956
NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr) rs1057518865
NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met) rs80338957
NM_000334.4(SCN4A):c.2150T>C (p.Val717Ala) rs1567823095
NM_000334.4(SCN4A):c.2155A>G (p.Met719Val)
NM_000334.4(SCN4A):c.2371C>T (p.Leu791Phe)
NM_000334.4(SCN4A):c.2377-17del rs761358378
NM_000334.4(SCN4A):c.2386C>G (p.Leu796Val) rs750053946
NM_000334.4(SCN4A):c.2411C>T (p.Ser804Phe) rs121908546
NM_000334.4(SCN4A):c.2585_2602del (p.Asp862_Ala867del) rs776181227
NM_000334.4(SCN4A):c.2635AAG[1] (p.Lys880del) rs760403755
NM_000334.4(SCN4A):c.2705G>A (p.Gly902Asp) rs2144786758
NM_000334.4(SCN4A):c.2804T>C (p.Met935Thr) rs778178410
NM_000334.4(SCN4A):c.2854-4G>C
NM_000334.4(SCN4A):c.2874T>A (p.Tyr958Ter) rs1567819954
NM_000334.4(SCN4A):c.2889C>A (p.Ser963=) rs757881584
NM_000334.4(SCN4A):c.2915C>A (p.Pro972His) rs1908837504
NM_000334.4(SCN4A):c.2938_2976del (p.Gln980_Glu992del) rs2144784283
NM_000334.4(SCN4A):c.2952C>A (p.Asn984Lys)
NM_000334.4(SCN4A):c.2989+59G>A rs78492637
NM_000334.4(SCN4A):c.2995G>C (p.Val999Leu) rs377277110
NM_000334.4(SCN4A):c.3118A>G (p.Met1040Val)
NM_000334.4(SCN4A):c.3240G>C (p.Met1080Ile) rs2144782622
NM_000334.4(SCN4A):c.3262G>A (p.Gly1088Ser) rs1282585219
NM_000334.4(SCN4A):c.3288C>T (p.Ala1096=) rs1597971086
NM_000334.4(SCN4A):c.3312C>T (p.Ile1104=) rs779189351
NM_000334.4(SCN4A):c.3319-256del rs35533633
NM_000334.4(SCN4A):c.3404G>A (p.Arg1135His) rs527236150
NM_000334.4(SCN4A):c.3472C>T (p.Pro1158Ser) rs121908555
NM_000334.4(SCN4A):c.3478A>G (p.Ile1160Val) rs121908549
NM_000334.4(SCN4A):c.3576C>T (p.Thr1192=) rs1598406728
NM_000334.4(SCN4A):c.3625T>G (p.Cys1209Gly)
NM_000334.4(SCN4A):c.3720+59dup rs58028318
NM_000334.4(SCN4A):c.3721-8TC[2]
NM_000334.4(SCN4A):c.3781G>T (p.Glu1261Ter) rs752611838
NM_000334.4(SCN4A):c.3896A>T (p.Asn1299Ile) rs2144778363
NM_000334.4(SCN4A):c.3912+32del rs145030641
NM_000334.4(SCN4A):c.3913-65dup rs58627885
NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu) rs80338792
NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val) rs80338792
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met) rs121908547
NM_000334.4(SCN4A):c.4018-118_4018-108del rs531252158
NM_000334.4(SCN4A):c.4018-120_4018-108del rs150461653
NM_000334.4(SCN4A):c.4018-140CT[10] rs111745569
NM_000334.4(SCN4A):c.4018-246_4018-245insAGGGGGTCCCCGGGGAGG rs147283432
NM_000334.4(SCN4A):c.4065C>A (p.Phe1355Leu) rs578214396
NM_000334.4(SCN4A):c.4080G>T (p.Met1360Ile) rs774789710
NM_000334.4(SCN4A):c.4179_4180insCC (p.Ile1394fs) rs1064794596
NM_000334.4(SCN4A):c.4222C>A (p.Arg1408Ser) rs118047588
NM_000334.4(SCN4A):c.4222C>T (p.Arg1408Cys) rs118047588
NM_000334.4(SCN4A):c.4238C>T (p.Thr1413Ile)
NM_000334.4(SCN4A):c.4289-301AC[11] rs58036769
NM_000334.4(SCN4A):c.4289-301AC[12] rs58036769
NM_000334.4(SCN4A):c.4289-301AC[13] rs58036769
NM_000334.4(SCN4A):c.4289-301AC[19] rs58036769
NM_000334.4(SCN4A):c.4289-301AC[21] rs58036769
NM_000334.4(SCN4A):c.4289-301AC[22] rs58036769
NM_000334.4(SCN4A):c.4307T>C (p.Leu1436Pro) rs1598405334
NM_000334.4(SCN4A):c.4342C>T (p.Arg1448Cys) rs121908544
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His) rs121908545
NM_000334.4(SCN4A):c.4343G>C (p.Arg1448Pro) rs121908545
NM_000334.4(SCN4A):c.4360C>A (p.Arg1454=) rs879253789
NM_000334.4(SCN4A):c.4372G>T (p.Val1458Phe) rs1199222144
NM_000334.4(SCN4A):c.4391G>C (p.Gly1464Ala) rs2144774769
NM_000334.4(SCN4A):c.4427T>C (p.Met1476Thr) rs1064795409
NM_000334.4(SCN4A):c.4428G>A (p.Met1476Ile) rs121908559
NM_000334.4(SCN4A):c.4430T>C (p.Met1477Thr) rs2144774683
NM_000334.4(SCN4A):c.4463T>C (p.Leu1488Pro) rs1057520846
NM_000334.4(SCN4A):c.4605G>A (p.Ser1535=) rs182438287
NM_000334.4(SCN4A):c.4708A>C (p.Asn1570His) rs1222651444
NM_000334.4(SCN4A):c.4765G>A (p.Val1589Met) rs121908548
NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val) rs80338962
NM_000334.4(SCN4A):c.4776G>A (p.Met1592Ile) rs886041805
NM_000334.4(SCN4A):c.4776G>T (p.Met1592Ile) rs886041805
NM_000334.4(SCN4A):c.5113T>A (p.Phe1705Ile) rs1064794243
NM_000334.4(SCN4A):c.5124C>T (p.Ala1708=) rs1555600600
NM_000334.4(SCN4A):c.5177A>G (p.His1726Arg) rs1908512330
NM_000334.4(SCN4A):c.5186T>C (p.Val1729Ala)
NM_000334.4(SCN4A):c.5210C>T (p.Ala1737Val)
NM_000334.4(SCN4A):c.5216G>T (p.Arg1739Leu) rs1388841552
NM_000334.4(SCN4A):c.5277C>T (p.Asp1759=) rs548333586
NM_000334.4(SCN4A):c.5420_5425del (p.Leu1807_Met1808del) rs781515976
NM_000334.4(SCN4A):c.5477_5478delinsTG (p.Thr1826Met) rs1567815577
NM_000334.4(SCN4A):c.5483G>A (p.Arg1828His)

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