ClinVar Miner

List of variants in gene KCNH5 reported as uncertain significance for brain disorder

Included ClinVar conditions (1834):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 281
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HGVS dbSNP gnomAD frequency
NM_139318.5(KCNH5):c.685G>A (p.Ala229Thr) rs200308580 0.00010
NM_139318.5(KCNH5):c.2884C>T (p.Pro962Ser) rs202223175 0.00007
NM_139318.5(KCNH5):c.2489A>G (p.Asn830Ser) rs151103620 0.00006
NM_139318.5(KCNH5):c.2534A>G (p.Lys845Arg) rs1189342324 0.00006
NM_139318.5(KCNH5):c.440C>T (p.Thr147Met) rs180894715 0.00006
NM_139318.5(KCNH5):c.1003G>A (p.Ala335Thr) rs376158544 0.00004
NM_139318.5(KCNH5):c.1346C>T (p.Ser449Leu) rs369774413 0.00004
NM_139318.5(KCNH5):c.1666G>A (p.Asp556Asn) rs150842380 0.00004
NM_139318.5(KCNH5):c.1694A>G (p.Glu565Gly) rs781050144 0.00004
NM_139318.5(KCNH5):c.2828C>T (p.Ser943Leu) rs761523326 0.00004
NM_139318.5(KCNH5):c.880G>A (p.Val294Met) rs376026108 0.00004
NM_139318.5(KCNH5):c.930A>T (p.Glu310Asp) rs201960719 0.00004
NM_139318.5(KCNH5):c.1339A>G (p.Met447Val) rs200506671 0.00003
NM_139318.5(KCNH5):c.2438G>A (p.Arg813Gln) rs534607642 0.00003
NM_139318.5(KCNH5):c.2872C>T (p.Pro958Ser) rs141160972 0.00003
NM_139318.5(KCNH5):c.817C>T (p.Pro273Ser) rs747654948 0.00003
NM_139318.5(KCNH5):c.1865C>T (p.Thr622Ile) rs376649352 0.00002
NM_139318.5(KCNH5):c.1883C>T (p.Ala628Val) rs761541451 0.00002
NM_139318.5(KCNH5):c.2072G>A (p.Arg691Gln) rs200737420 0.00002
NM_139318.5(KCNH5):c.2089A>T (p.Thr697Ser) rs544844321 0.00002
NM_139318.5(KCNH5):c.2842C>T (p.Pro948Ser) rs200587228 0.00002
NM_139318.5(KCNH5):c.460C>T (p.Arg154Trp) rs745970423 0.00002
NM_139318.5(KCNH5):c.1196C>T (p.Pro399Leu) rs1447297190 0.00001
NM_139318.5(KCNH5):c.1427C>G (p.Ala476Gly) rs922788543 0.00001
NM_139318.5(KCNH5):c.1465C>T (p.Arg489Trp) rs1346595307 0.00001
NM_139318.5(KCNH5):c.1658T>C (p.Leu553Ser) rs1406117275 0.00001
NM_139318.5(KCNH5):c.172G>A (p.Val58Ile) rs1057417977 0.00001
NM_139318.5(KCNH5):c.1886A>T (p.Asn629Ile) rs1204494580 0.00001
NM_139318.5(KCNH5):c.1931A>G (p.Glu644Gly) rs779052121 0.00001
NM_139318.5(KCNH5):c.2024T>C (p.Ile675Thr) rs747312358 0.00001
NM_139318.5(KCNH5):c.2045T>A (p.Val682Glu) rs547160809 0.00001
NM_139318.5(KCNH5):c.2159G>A (p.Arg720Gln) rs201820912 0.00001
NM_139318.5(KCNH5):c.2249C>T (p.Thr750Ile) rs1359517285 0.00001
NM_139318.5(KCNH5):c.2371G>C (p.Asp791His) rs1259994686 0.00001
NM_139318.5(KCNH5):c.2372A>G (p.Asp791Gly) rs548465461 0.00001
NM_139318.5(KCNH5):c.2420A>G (p.Asn807Ser) rs770323761 0.00001
NM_139318.5(KCNH5):c.2488A>G (p.Asn830Asp) rs1445149671 0.00001
NM_139318.5(KCNH5):c.249A>C (p.Gln83His) rs1051611713 0.00001
NM_139318.5(KCNH5):c.2686C>T (p.His896Tyr) rs758357872 0.00001
NM_139318.5(KCNH5):c.2782A>G (p.Met928Val) rs775247224 0.00001
NM_139318.5(KCNH5):c.2788G>T (p.Ala930Ser) rs202201734 0.00001
NM_139318.5(KCNH5):c.2837G>A (p.Ser946Asn) rs967009755 0.00001
NM_139318.5(KCNH5):c.295A>C (p.Lys99Gln) rs780461223 0.00001
NM_139318.5(KCNH5):c.395C>T (p.Thr132Met) rs765878799 0.00001
NM_139318.5(KCNH5):c.412A>G (p.Ile138Val) rs934408514 0.00001
NM_139318.5(KCNH5):c.500C>T (p.Thr167Met) rs771253745 0.00001
NM_139318.5(KCNH5):c.550G>A (p.Val184Ile) rs752609494 0.00001
NM_139318.5(KCNH5):c.942+5G>A rs1265529041 0.00001
NM_139318.5(KCNH5):c.988C>T (p.Arg330Ter) rs767049623 0.00001
NC_000014.8:g.(?_63174206)_(63269319_?)del
NC_000014.8:g.(?_63511812)_(63511904_?)dup
NC_000014.8:g.(?_63511812)_(63511924_?)dup
NM_139318.5(KCNH5):c.1034G>C (p.Gly345Ala)
NM_139318.5(KCNH5):c.106G>C (p.Val36Leu) rs138796167
NM_139318.5(KCNH5):c.1086G>T (p.Trp362Cys)
NM_139318.5(KCNH5):c.1087C>G (p.Leu363Val) rs2140130561
NM_139318.5(KCNH5):c.1096A>G (p.Ile366Val)
NM_139318.5(KCNH5):c.1111G>A (p.Gly371Arg)
NM_139318.5(KCNH5):c.1123G>A (p.Val375Ile)
NM_139318.5(KCNH5):c.1127T>A (p.Ile376Asn)
NM_139318.5(KCNH5):c.1144A>G (p.Thr382Ala)
NM_139318.5(KCNH5):c.115C>T (p.Pro39Ser)
NM_139318.5(KCNH5):c.1186A>T (p.Ile396Phe) rs1889976030
NM_139318.5(KCNH5):c.1187T>C (p.Ile396Thr)
NM_139318.5(KCNH5):c.1199A>G (p.Tyr400Cys) rs2140130437
NM_139318.5(KCNH5):c.1220G>C (p.Gly407Ala) rs1889974797
NM_139318.5(KCNH5):c.1223T>G (p.Ile408Arg)
NM_139318.5(KCNH5):c.125A>G (p.Tyr42Cys) rs1891337268
NM_139318.5(KCNH5):c.1280T>C (p.Met427Thr)
NM_139318.5(KCNH5):c.1313_1314del (p.Ile438fs)
NM_139318.5(KCNH5):c.1322C>A (p.Thr441Asn) rs189501067
NM_139318.5(KCNH5):c.1340T>C (p.Met447Thr)
NM_139318.5(KCNH5):c.1363G>A (p.Val455Ile) rs1224129490
NM_139318.5(KCNH5):c.1376_1378del (p.Leu459_Tyr460delinsHis) rs2140045667
NM_139318.5(KCNH5):c.137G>C (p.Gly46Ala) rs756167787
NM_139318.5(KCNH5):c.137G>T (p.Gly46Val)
NM_139318.5(KCNH5):c.1400T>C (p.Val467Ala) rs1887769181
NM_139318.5(KCNH5):c.1403C>A (p.Thr468Lys)
NM_139318.5(KCNH5):c.1403CAA[1] (p.Thr469del) rs2140045637
NM_139318.5(KCNH5):c.1408A>G (p.Ile470Val)
NM_139318.5(KCNH5):c.1415A>G (p.Gln472Arg)
NM_139318.5(KCNH5):c.1439G>A (p.Arg480Gln)
NM_139318.5(KCNH5):c.1448del (p.Glu483fs) rs2140045596
NM_139318.5(KCNH5):c.1466G>A (p.Arg489Gln) rs1305159522
NM_139318.5(KCNH5):c.1473C>G (p.Phe491Leu)
NM_139318.5(KCNH5):c.148C>G (p.Leu50Val)
NM_139318.5(KCNH5):c.1577C>T (p.Ser526Phe) rs2140000246
NM_139318.5(KCNH5):c.1622del (p.Asn541fs) rs2140000165
NM_139318.5(KCNH5):c.1630G>A (p.Val544Ile) rs1453474750
NM_139318.5(KCNH5):c.1635T>A (p.Phe545Leu)
NM_139318.5(KCNH5):c.1649C>T (p.Ala550Val)
NM_139318.5(KCNH5):c.1654C>T (p.Arg552Ter)
NM_139318.5(KCNH5):c.1712G>A (p.Cys571Tyr)
NM_139318.5(KCNH5):c.1712G>C (p.Cys571Ser)
NM_139318.5(KCNH5):c.1792A>G (p.Ile598Val) rs1886679317
NM_139318.5(KCNH5):c.1807del (p.Val603fs) rs2139999944
NM_139318.5(KCNH5):c.1822+3A>G rs1886679041
NM_139318.5(KCNH5):c.1822+5T>C
NM_139318.5(KCNH5):c.1871C>G (p.Ala624Gly) rs762614737
NM_139318.5(KCNH5):c.1876G>A (p.Ala626Thr)
NM_139318.5(KCNH5):c.1885A>G (p.Asn629Asp)
NM_139318.5(KCNH5):c.188G>T (p.Ser63Ile)
NM_139318.5(KCNH5):c.1906T>A (p.Cys636Ser)
NM_139318.5(KCNH5):c.1927C>G (p.Arg643Gly) rs771984476
NM_139318.5(KCNH5):c.1927C>T (p.Arg643Trp)
NM_139318.5(KCNH5):c.1928G>A (p.Arg643Gln)
NM_139318.5(KCNH5):c.1939C>T (p.Leu647Phe)
NM_139318.5(KCNH5):c.1970C>T (p.Ala657Val) rs143775193
NM_139318.5(KCNH5):c.1985G>A (p.Arg662Lys) rs1382406226
NM_139318.5(KCNH5):c.1993A>T (p.Thr665Ser) rs2139975358
NM_139318.5(KCNH5):c.2006A>G (p.Asn669Ser)
NM_139318.5(KCNH5):c.2018G>A (p.Arg673Gln)
NM_139318.5(KCNH5):c.2019G>A (p.Arg673=)
NM_139318.5(KCNH5):c.2026T>G (p.Phe676Val)
NM_139318.5(KCNH5):c.2029C>G (p.Arg677Gly)
NM_139318.5(KCNH5):c.2029C>T (p.Arg677Cys)
NM_139318.5(KCNH5):c.2030G>T (p.Arg677Leu)
NM_139318.5(KCNH5):c.2039G>T (p.Ser680Ile)
NM_139318.5(KCNH5):c.205T>C (p.Tyr69His)
NM_139318.5(KCNH5):c.2063A>T (p.Glu688Val)
NM_139318.5(KCNH5):c.2068C>G (p.Leu690Val)
NM_139318.5(KCNH5):c.2069T>G (p.Leu690Arg) rs1884490758
NM_139318.5(KCNH5):c.2071C>T (p.Arg691Trp) rs1313204598
NM_139318.5(KCNH5):c.2072G>T (p.Arg691Leu) rs200737420
NM_139318.5(KCNH5):c.2095A>G (p.Ser699Gly) rs1360641528
NM_139318.5(KCNH5):c.2114C>G (p.Pro705Arg) rs1060502866
NM_139318.5(KCNH5):c.2138T>A (p.Phe713Tyr)
NM_139318.5(KCNH5):c.2147A>C (p.Gln716Pro)
NM_139318.5(KCNH5):c.2156T>C (p.Leu719Pro)
NM_139318.5(KCNH5):c.2158C>T (p.Arg720Trp)
NM_139318.5(KCNH5):c.2166G>T (p.Gln722His) rs2139899426
NM_139318.5(KCNH5):c.2178G>C (p.Gln726His)
NM_139318.5(KCNH5):c.2185C>G (p.Pro729Ala)
NM_139318.5(KCNH5):c.2195A>G (p.Asn732Ser)
NM_139318.5(KCNH5):c.2204A>G (p.Gln735Arg)
NM_139318.5(KCNH5):c.2211G>C (p.Glu737Asp) rs1050337000
NM_139318.5(KCNH5):c.2216G>A (p.Arg739His)
NM_139318.5(KCNH5):c.2227A>G (p.Asn743Asp)
NM_139318.5(KCNH5):c.2245G>A (p.Gly749Arg)
NM_139318.5(KCNH5):c.226A>G (p.Lys76Glu)
NM_139318.5(KCNH5):c.2284C>G (p.Gln762Glu)
NM_139318.5(KCNH5):c.229A>G (p.Thr77Ala) rs1365308454
NM_139318.5(KCNH5):c.2300A>G (p.Tyr767Cys)
NM_139318.5(KCNH5):c.2303T>G (p.Val768Gly) rs2139899216
NM_139318.5(KCNH5):c.2321T>C (p.Leu774Pro)
NM_139318.5(KCNH5):c.2341G>A (p.Ala781Thr) rs1595587605
NM_139318.5(KCNH5):c.2342C>T (p.Ala781Val)
NM_139318.5(KCNH5):c.2344A>G (p.Met782Val) rs1424974763
NM_139318.5(KCNH5):c.2347G>A (p.Glu783Lys) rs373967609
NM_139318.5(KCNH5):c.2359A>G (p.Asn787Asp)
NM_139318.5(KCNH5):c.2407A>G (p.Met803Val) rs1884477605
NM_139318.5(KCNH5):c.2410A>C (p.Lys804Gln)
NM_139318.5(KCNH5):c.2428G>C (p.Gly810Arg)
NM_139318.5(KCNH5):c.2437C>T (p.Arg813Ter)
NM_139318.5(KCNH5):c.2441T>C (p.Leu814Pro)
NM_139318.5(KCNH5):c.2446A>G (p.Asn816Asp)
NM_139318.5(KCNH5):c.2448T>A (p.Asn816Lys)
NM_139318.5(KCNH5):c.2449A>G (p.Asn817Asp)
NM_139318.5(KCNH5):c.2471A>G (p.Lys824Arg)
NM_139318.5(KCNH5):c.2471A>T (p.Lys824Ile)
NM_139318.5(KCNH5):c.247C>T (p.Gln83Ter)
NM_139318.5(KCNH5):c.2481C>A (p.Asp827Glu)
NM_139318.5(KCNH5):c.2494A>C (p.Thr832Pro)
NM_139318.5(KCNH5):c.2509A>G (p.Met837Val)
NM_139318.5(KCNH5):c.2510T>C (p.Met837Thr)
NM_139318.5(KCNH5):c.2535G>C (p.Lys845Asn)
NM_139318.5(KCNH5):c.253T>C (p.Phe85Leu)
NM_139318.5(KCNH5):c.2549A>G (p.Glu850Gly)
NM_139318.5(KCNH5):c.2555G>A (p.Ser852Asn)
NM_139318.5(KCNH5):c.2561C>T (p.Thr854Ile) rs2139898851
NM_139318.5(KCNH5):c.2584G>C (p.Asp862His)
NM_139318.5(KCNH5):c.2585A>G (p.Asp862Gly) rs1595587388
NM_139318.5(KCNH5):c.2591G>A (p.Cys864Tyr) rs1595587379
NM_139318.5(KCNH5):c.2594A>G (p.Asp865Gly)
NM_139318.5(KCNH5):c.259A>C (p.Asn87His)
NM_139318.5(KCNH5):c.2615A>G (p.Asp872Gly)
NM_139318.5(KCNH5):c.2618T>C (p.Leu873Pro)
NM_139318.5(KCNH5):c.2632G>T (p.Ala878Ser) rs376837885
NM_139318.5(KCNH5):c.2641G>A (p.Ala881Thr)
NM_139318.5(KCNH5):c.2641G>T (p.Ala881Ser)
NM_139318.5(KCNH5):c.2642C>T (p.Ala881Val) rs2139898764
NM_139318.5(KCNH5):c.2645G>A (p.Arg882Gln)
NM_139318.5(KCNH5):c.265G>C (p.Glu89Gln) rs1162818997
NM_139318.5(KCNH5):c.2662A>G (p.Ser888Gly)
NM_139318.5(KCNH5):c.2677G>A (p.Asp893Asn)
NM_139318.5(KCNH5):c.2680G>A (p.Ala894Thr)
NM_139318.5(KCNH5):c.2689C>T (p.Pro897Ser) rs1393650655
NM_139318.5(KCNH5):c.2690C>A (p.Pro897His)
NM_139318.5(KCNH5):c.2704C>G (p.Pro902Ala) rs757688048
NM_139318.5(KCNH5):c.2704C>T (p.Pro902Ser) rs757688048
NM_139318.5(KCNH5):c.2707G>T (p.Glu903Ter)
NM_139318.5(KCNH5):c.2722A>T (p.Thr908Ser)
NM_139318.5(KCNH5):c.2725A>C (p.Thr909Pro) rs1884466924
NM_139318.5(KCNH5):c.2734G>A (p.Glu912Lys)
NM_139318.5(KCNH5):c.2749C>T (p.Leu917Phe)
NM_139318.5(KCNH5):c.2761A>T (p.Ile921Phe)
NM_139318.5(KCNH5):c.2786C>G (p.Thr929Ser)
NM_139318.5(KCNH5):c.2791C>G (p.Leu931Val)
NM_139318.5(KCNH5):c.2797A>G (p.Lys933Glu)
NM_139318.5(KCNH5):c.2803G>A (p.Val935Met)
NM_139318.5(KCNH5):c.2804T>C (p.Val935Ala)
NM_139318.5(KCNH5):c.2812A>G (p.Ile938Val) rs375347137
NM_139318.5(KCNH5):c.2822T>C (p.Ile941Thr)
NM_139318.5(KCNH5):c.2825T>C (p.Leu942Pro)
NM_139318.5(KCNH5):c.2831A>T (p.Glu944Val) rs2139898468
NM_139318.5(KCNH5):c.2833A>G (p.Lys945Glu) rs1566633488
NM_139318.5(KCNH5):c.2846A>C (p.Gln949Pro) rs2139898414
NM_139318.5(KCNH5):c.2855C>T (p.Ser952Phe)
NM_139318.5(KCNH5):c.2866C>A (p.Gln956Lys)
NM_139318.5(KCNH5):c.2888C>T (p.Pro963Leu)
NM_139318.5(KCNH5):c.2890C>G (p.Gln964Glu) rs753525158
NM_139318.5(KCNH5):c.2890del (p.Gln964fs)
NM_139318.5(KCNH5):c.2921C>G (p.Ser974Ter)
NM_139318.5(KCNH5):c.2927C>T (p.Pro976Leu) rs2139898259
NM_139318.5(KCNH5):c.2935C>T (p.Pro979Ser)
NM_139318.5(KCNH5):c.2936C>T (p.Pro979Leu)
NM_139318.5(KCNH5):c.2942C>T (p.Ser981Phe)
NM_139318.5(KCNH5):c.294C>G (p.Tyr98Ter)
NM_139318.5(KCNH5):c.2951A>T (p.Asp984Val) rs1566633394
NM_139318.5(KCNH5):c.2954A>T (p.Glu985Val)
NM_139318.5(KCNH5):c.304+3A>G
NM_139318.5(KCNH5):c.304+4G>A rs750807814
NM_139318.5(KCNH5):c.305-3C>T rs1249146991
NM_139318.5(KCNH5):c.318G>T (p.Trp106Cys)
NM_139318.5(KCNH5):c.323A>G (p.Tyr108Cys) rs1464940813
NM_139318.5(KCNH5):c.330A>G (p.Gln110=)
NM_139318.5(KCNH5):c.372C>A (p.Phe124Leu)
NM_139318.5(KCNH5):c.379A>G (p.Thr127Ala)
NM_139318.5(KCNH5):c.394A>T (p.Thr132Ser)
NM_139318.5(KCNH5):c.399G>T (p.Leu133Phe)
NM_139318.5(KCNH5):c.409C>A (p.Pro137Thr)
NM_139318.5(KCNH5):c.422A>C (p.Asp141Ala) rs1891006879
NM_139318.5(KCNH5):c.433+5T>C
NM_139318.5(KCNH5):c.433+9_433+10insAACAAAAGGTAATTTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGG
NM_139318.5(KCNH5):c.434-2A>C rs1890726221
NM_139318.5(KCNH5):c.463G>A (p.Ala155Thr) rs2139575336
NM_139318.5(KCNH5):c.472A>G (p.Asn158Asp)
NM_139318.5(KCNH5):c.476G>C (p.Ser159Thr) rs759714263
NM_139318.5(KCNH5):c.478C>T (p.Arg160Ter)
NM_139318.5(KCNH5):c.479G>A (p.Arg160Gln) rs148002630
NM_139318.5(KCNH5):c.488T>C (p.Leu163Ser) rs2139575303
NM_139318.5(KCNH5):c.491A>G (p.Gln164Arg)
NM_139318.5(KCNH5):c.505A>G (p.Met169Val)
NM_139318.5(KCNH5):c.515C>A (p.Thr172Lys)
NM_139318.5(KCNH5):c.520G>A (p.Val174Met)
NM_139318.5(KCNH5):c.533A>G (p.His178Arg) rs2139575209
NM_139318.5(KCNH5):c.53A>T (p.Asn18Ile)
NM_139318.5(KCNH5):c.545C>G (p.Ala182Gly) rs2139575198
NM_139318.5(KCNH5):c.550-1G>C
NM_139318.5(KCNH5):c.553C>T (p.Leu185Phe) rs780855852
NM_139318.5(KCNH5):c.558G>C (p.Gln186His)
NM_139318.5(KCNH5):c.566C>G (p.Ser189Ter) rs1381625125
NM_139318.5(KCNH5):c.568dup (p.Asp190fs)
NM_139318.5(KCNH5):c.581A>G (p.Gln194Arg) rs2139568664
NM_139318.5(KCNH5):c.589C>T (p.Gln197Ter) rs1555366656
NM_139318.5(KCNH5):c.610C>T (p.Pro204Ser) rs1165675846
NM_139318.5(KCNH5):c.611C>T (p.Pro204Leu) rs776842795
NM_139318.5(KCNH5):c.646A>G (p.Thr216Ala)
NM_139318.5(KCNH5):c.65G>A (p.Arg22His)
NM_139318.5(KCNH5):c.665dup (p.Leu222fs) rs2139568568
NM_139318.5(KCNH5):c.68C>T (p.Ser23Phe) rs2139638415
NM_139318.5(KCNH5):c.719C>G (p.Thr240Arg)
NM_139318.5(KCNH5):c.727A>T (p.Asn243Tyr)
NM_139318.5(KCNH5):c.731A>G (p.Asn244Ser)
NM_139318.5(KCNH5):c.748C>A (p.Leu250Met)
NM_139318.5(KCNH5):c.765C>A (p.Asp255Glu)
NM_139318.5(KCNH5):c.811G>C (p.Val271Leu)
NM_139318.5(KCNH5):c.816_817delinsAT (p.Pro273Ser)
NM_139318.5(KCNH5):c.820G>A (p.Gly274Ser) rs182494425
NM_139318.5(KCNH5):c.844A>G (p.Lys282Glu)
NM_139318.5(KCNH5):c.854G>A (p.Arg285Lys)
NM_139318.5(KCNH5):c.859A>T (p.Asn287Tyr)
NM_139318.5(KCNH5):c.908A>G (p.Tyr303Cys)
NM_139318.5(KCNH5):c.912C>G (p.Asp304Glu)
NM_139318.5(KCNH5):c.913A>G (p.Ile305Val) rs2139568205
NM_139318.5(KCNH5):c.918C>T (p.Ile306=)
NM_139318.5(KCNH5):c.919A>G (p.Asn307Asp)
NM_139318.5(KCNH5):c.932dup (p.Asn311fs) rs1566729319
NM_139318.5(KCNH5):c.950G>C (p.Ser317Thr)
NM_139318.5(KCNH5):c.953G>A (p.Ser318Asn)
NM_139318.5(KCNH5):c.987A>T (p.Leu329Phe) rs2140130662

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