ClinVar Miner

List of variants in gene ABCG5, DYNC2LI1 studied for syndromic dyslipidemia

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 296
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HGVS dbSNP gnomAD frequency
NM_022436.3(ABCG5):c.*380T>G rs2278356 0.42073
NM_022436.3(ABCG5):c.*622C>T rs4148195 0.24225
NM_022436.3(ABCG5):c.*416G>A rs2278357 0.21979
NM_022436.3(ABCG5):c.1810C>G (p.Gln604Glu) rs6720173 0.21159
NM_022436.3(ABCG5):c.*522G>A rs77105521 0.18100
NM_022436.3(ABCG5):c.*399C>T rs79475203 0.01918
NM_022436.3(ABCG5):c.785A>G (p.Lys262Arg) rs78070897 0.01647
NM_022436.3(ABCG5):c.1550C>G (p.Thr517Ser) rs17031672 0.01119
NM_022436.3(ABCG5):c.775-10G>T rs114549158 0.00688
NM_022436.3(ABCG5):c.*535C>T rs77638440 0.00642
NM_022436.3(ABCG5):c.1864A>G (p.Met622Val) rs140374206 0.00461
NM_022436.3(ABCG5):c.1763-7T>G rs114780578 0.00288
NM_022436.3(ABCG5):c.*621C>T rs144987434 0.00231
NM_022436.3(ABCG5):c.1284C>T (p.Gly428=) rs143972075 0.00198
NM_022436.3(ABCG5):c.1567A>G (p.Ile523Val) rs140899003 0.00189
NM_022436.3(ABCG5):c.696C>T (p.Val232=) rs72796720 0.00145
NM_022436.3(ABCG5):c.957C>T (p.Ser319=) rs146131711 0.00145
NM_022436.3(ABCG5):c.1744G>A (p.Gly582Arg) rs144973796 0.00127
NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln) rs141828689 0.00109
NM_022436.3(ABCG5):c.510C>T (p.Ala170=) rs147061424 0.00065
NM_022436.3(ABCG5):c.1251G>A (p.Gln417=) rs146801512 0.00063
NM_022436.3(ABCG5):c.1806C>T (p.Phe602=) rs150716811 0.00052
NM_022436.3(ABCG5):c.1870T>C (p.Phe624Leu) rs150401285 0.00047
NM_022436.3(ABCG5):c.1365C>T (p.Asp455=) rs141016088 0.00038
NM_022436.3(ABCG5):c.1171C>T (p.Leu391Phe) rs148997255 0.00027
NM_022436.3(ABCG5):c.634+3A>G rs374755597 0.00026
NM_022436.3(ABCG5):c.1528C>A (p.His510Asn) rs199984328 0.00025
NM_022436.3(ABCG5):c.1118+13C>G rs371609600 0.00021
NM_022436.3(ABCG5):c.897C>T (p.Asp299=) rs373237261 0.00020
NM_022436.3(ABCG5):c.1347C>T (p.Ser449=) rs139361486 0.00019
NM_022436.3(ABCG5):c.775-7T>A rs201469377 0.00016
NM_022436.3(ABCG5):c.1163C>T (p.Thr388Met) rs149418765 0.00015
NM_022436.3(ABCG5):c.1336C>T (p.Arg446Ter) rs199689137 0.00011
NM_022436.3(ABCG5):c.1166G>A (p.Arg389His) rs119480069 0.00009
NM_022436.3(ABCG5):c.1733A>G (p.Asn578Ser) rs146534033 0.00009
NM_022436.3(ABCG5):c.1348G>A (p.Asp450Asn) rs530616214 0.00008
NM_022436.3(ABCG5):c.758G>A (p.Arg253His) rs148186696 0.00007
NM_022436.3(ABCG5):c.775-17G>A rs368001054 0.00007
NM_022436.3(ABCG5):c.1216C>T (p.Arg406Trp) rs752962014 0.00006
NM_022436.3(ABCG5):c.1324+13G>A rs773653057 0.00006
NM_022436.3(ABCG5):c.1410C>T (p.His470=) rs369709495 0.00006
NM_022436.3(ABCG5):c.1856G>C (p.Arg619Thr) rs374012053 0.00006
NM_022436.3(ABCG5):c.1180C>T (p.Leu394=) rs771802286 0.00005
NM_022436.3(ABCG5):c.1500A>G (p.Gly500=) rs767584159 0.00005
NM_022436.3(ABCG5):c.1398C>T (p.Ala466=) rs373514009 0.00004
NM_022436.3(ABCG5):c.1411G>A (p.Val471Ile) rs143402711 0.00004
NM_022436.3(ABCG5):c.1569C>T (p.Ile523=) rs376969021 0.00004
NM_022436.3(ABCG5):c.1570G>A (p.Val524Ile) rs200839584 0.00004
NM_022436.3(ABCG5):c.658A>G (p.Thr220Ala) rs781732933 0.00004
NM_022436.3(ABCG5):c.751C>T (p.Gln251Ter) rs140111105 0.00004
NM_022436.3(ABCG5):c.915G>A (p.Thr305=) rs773296588 0.00004
NM_022436.3(ABCG5):c.*352T>C rs536340107 0.00003
NM_022436.3(ABCG5):c.1256G>C (p.Arg419Pro) rs119479067 0.00003
NM_022436.3(ABCG5):c.1258G>A (p.Val420Ile) rs747481748 0.00003
NM_022436.3(ABCG5):c.1320T>A (p.Asn440Lys) rs150002815 0.00003
NM_022436.3(ABCG5):c.1462T>C (p.Trp488Arg) rs1299933608 0.00003
NM_022436.3(ABCG5):c.1770A>C (p.Ser590=) rs1280347803 0.00003
NM_022436.3(ABCG5):c.834G>A (p.Ala278=) rs373182673 0.00003
NM_022436.3(ABCG5):c.1121G>C (p.Arg374Thr) rs770254073 0.00002
NM_022436.3(ABCG5):c.1256G>A (p.Arg419His) rs119479067 0.00002
NM_022436.3(ABCG5):c.1324+11A>G rs764721117 0.00002
NM_022436.3(ABCG5):c.1337G>A (p.Arg446Gln) rs536081800 0.00002
NM_022436.3(ABCG5):c.1467G>A (p.Thr489=) rs765708869 0.00002
NM_022436.3(ABCG5):c.511G>A (p.Val171Ile) rs777411661 0.00002
NM_022436.3(ABCG5):c.599G>A (p.Arg200Gln) rs751809765 0.00002
NM_022436.3(ABCG5):c.804C>T (p.Phe268=) rs554183818 0.00002
NM_022436.3(ABCG5):c.827C>T (p.Thr276Met) rs368800131 0.00002
NM_022436.3(ABCG5):c.861C>T (p.Cys287=) rs530120175 0.00002
NM_022436.3(ABCG5):c.900C>G (p.Phe300Leu) rs748009304 0.00002
NM_022436.3(ABCG5):c.*511C>A rs547604287 0.00001
NM_022436.3(ABCG5):c.*592G>A rs151005348 0.00001
NM_022436.3(ABCG5):c.1049C>T (p.Thr350Met) rs148131742 0.00001
NM_022436.3(ABCG5):c.1196T>G (p.Phe399Cys) rs1369215333 0.00001
NM_022436.3(ABCG5):c.1218G>A (p.Arg406=) rs146992652 0.00001
NM_022436.3(ABCG5):c.1222C>T (p.Arg408Ter) rs119479065 0.00001
NM_022436.3(ABCG5):c.1285G>A (p.Ala429Thr) rs779125742 0.00001
NM_022436.3(ABCG5):c.1358G>C (p.Ser453Thr) rs778497502 0.00001
NM_022436.3(ABCG5):c.1366G>A (p.Gly456Ser) rs200378113 0.00001
NM_022436.3(ABCG5):c.1374C>G (p.Tyr458Ter) rs1558738919 0.00001
NM_022436.3(ABCG5):c.1419C>A (p.Pro473=) rs377076958 0.00001
NM_022436.3(ABCG5):c.1446C>T (p.Phe482=) rs886044572 0.00001
NM_022436.3(ABCG5):c.1602G>C (p.Val534=) rs1280735521 0.00001
NM_022436.3(ABCG5):c.1649+2dup rs748047359 0.00001
NM_022436.3(ABCG5):c.1711T>C (p.Cys571Arg) rs370371131 0.00001
NM_022436.3(ABCG5):c.1775T>C (p.Val592Ala) rs777055543 0.00001
NM_022436.3(ABCG5):c.1878T>C (p.Ile626=) rs768890956 0.00001
NM_022436.3(ABCG5):c.538G>A (p.Val180Met) rs761153980 0.00001
NM_022436.3(ABCG5):c.570G>A (p.Leu190=) rs886056030 0.00001
NM_022436.3(ABCG5):c.610G>A (p.Ala204Thr) rs765266332 0.00001
NM_022436.3(ABCG5):c.634A>G (p.Lys212Glu) rs772952717 0.00001
NM_022436.3(ABCG5):c.642G>A (p.Met214Ile) rs1369776473 0.00001
NM_022436.3(ABCG5):c.780T>C (p.Phe260=) rs765847597 0.00001
NM_022436.3(ABCG5):c.828G>A (p.Thr276=) rs539178581 0.00001
NM_022436.3(ABCG5):c.940C>T (p.Arg314Trp) rs142971825 0.00001
NM_022436.3(ABCG5):c.941G>A (p.Arg314Gln) rs544541406 0.00001
NM_022436.3(ABCG5):c.975A>G (p.Ile325Met) rs1296464024 0.00001
NM_022436.3(ABCG5):c.*153C>A rs922810299
NM_022436.3(ABCG5):c.*225G>T rs376140340
NM_022436.3(ABCG5):c.*285G>C rs114868704
NM_022436.3(ABCG5):c.*357dup rs886056027
NM_022436.3(ABCG5):c.1008T>C (p.His336=)
NM_022436.3(ABCG5):c.1015T>G (p.Leu339Val)
NM_022436.3(ABCG5):c.1043T>C (p.Leu348Pro)
NM_022436.3(ABCG5):c.1043T>G (p.Leu348Arg)
NM_022436.3(ABCG5):c.1082C>G (p.Ser361Cys) rs776365033
NM_022436.3(ABCG5):c.1113C>T (p.Leu371=)
NM_022436.3(ABCG5):c.1118+17T>C
NM_022436.3(ABCG5):c.1118+20G>A
NM_022436.3(ABCG5):c.1119-11T>C
NM_022436.3(ABCG5):c.1119-15del
NM_022436.3(ABCG5):c.1119-8_1119-5del
NM_022436.3(ABCG5):c.1128A>C (p.Thr376=)
NM_022436.3(ABCG5):c.1128A>G (p.Thr376=) rs781466225
NM_022436.3(ABCG5):c.1138del (p.Leu379_Val380insTer) rs755809709
NM_022436.3(ABCG5):c.1146T>C (p.Asn382=)
NM_022436.3(ABCG5):c.1155A>G (p.Ala385=) rs886056028
NM_022436.3(ABCG5):c.1164G>A (p.Thr388=)
NM_022436.3(ABCG5):c.1165C>T (p.Arg389Cys)
NM_022436.3(ABCG5):c.1175A>C (p.Gln392Pro)
NM_022436.3(ABCG5):c.1179T>C (p.Asn393=)
NM_022436.3(ABCG5):c.1180C>A (p.Leu394Met)
NM_022436.3(ABCG5):c.1183A>G (p.Ile395Val) rs897344189
NM_022436.3(ABCG5):c.1185C>T (p.Ile395=)
NM_022436.3(ABCG5):c.1188G>C (p.Met396Ile)
NM_022436.3(ABCG5):c.1189G>T (p.Gly397Cys)
NM_022436.3(ABCG5):c.1197C>T (p.Phe399=) rs868540610
NM_022436.3(ABCG5):c.1205T>C (p.Phe402Ser)
NM_022436.3(ABCG5):c.1209C>T (p.Phe403=)
NM_022436.3(ABCG5):c.1210G>A (p.Val404Ile)
NM_022436.3(ABCG5):c.1213C>T (p.Leu405=)
NM_022436.3(ABCG5):c.1215G>A (p.Leu405=)
NM_022436.3(ABCG5):c.1217G>A (p.Arg406Gln)
NM_022436.3(ABCG5):c.1228A>C (p.Asn410His) rs115590670
NM_022436.3(ABCG5):c.1228A>G (p.Asn410Asp) rs115590670
NM_022436.3(ABCG5):c.1250A>G (p.Gln417Arg)
NM_022436.3(ABCG5):c.1255C>T (p.Arg419Cys) rs771475759
NM_022436.3(ABCG5):c.1259T>G (p.Val420Gly)
NM_022436.3(ABCG5):c.1262G>C (p.Gly421Ala)
NM_022436.3(ABCG5):c.1271A>C (p.Tyr424Ser)
NM_022436.3(ABCG5):c.1273C>T (p.Gln425Ter)
NM_022436.3(ABCG5):c.1293G>A (p.Pro431=)
NM_022436.3(ABCG5):c.1311C>G (p.Asn437Lys)
NM_022436.3(ABCG5):c.1311C>T (p.Asn437=) rs575266356
NM_022436.3(ABCG5):c.1323_1324+2del rs780744534
NM_022436.3(ABCG5):c.1324+12C>T
NM_022436.3(ABCG5):c.1324+8C>T
NM_022436.3(ABCG5):c.1324_1324+15del
NM_022436.3(ABCG5):c.1325-2A>G rs1241774005
NM_022436.3(ABCG5):c.1325-4C>G
NM_022436.3(ABCG5):c.1325-8A>G rs1667331562
NM_022436.3(ABCG5):c.1327C>T (p.Pro443Ser)
NM_022436.3(ABCG5):c.1329C>T (p.Pro443=)
NM_022436.3(ABCG5):c.1330G>A (p.Val444Met)
NM_022436.3(ABCG5):c.1340C>T (p.Ala447Val)
NM_022436.3(ABCG5):c.1348G>C (p.Asp450His) rs530616214
NM_022436.3(ABCG5):c.1365C>A (p.Asp455Glu)
NM_022436.3(ABCG5):c.1376A>G (p.Gln459Arg) rs1667326037
NM_022436.3(ABCG5):c.1381T>C (p.Trp461Arg)
NM_022436.3(ABCG5):c.1425C>T (p.Ser475=)
NM_022436.3(ABCG5):c.1437C>T (p.Thr479=)
NM_022436.3(ABCG5):c.1452T>G (p.Ser484Arg)
NM_022436.3(ABCG5):c.1458C>T (p.Cys486=) rs779676205
NM_022436.3(ABCG5):c.1460A>G (p.Tyr487Cys)
NM_022436.3(ABCG5):c.1463+20A>T
NM_022436.3(ABCG5):c.1464-15C>A
NM_022436.3(ABCG5):c.1464-16G>A
NM_022436.3(ABCG5):c.1464-17A>G
NM_022436.3(ABCG5):c.1464-1G>C
NM_022436.3(ABCG5):c.1488T>G (p.Val496=)
NM_022436.3(ABCG5):c.1514C>A (p.Ala505Asp)
NM_022436.3(ABCG5):c.1527C>T (p.Pro509=)
NM_022436.3(ABCG5):c.1528C>G (p.His510Asp) rs199984328
NM_022436.3(ABCG5):c.1528del (p.His510fs)
NM_022436.3(ABCG5):c.1528dup (p.His510fs)
NM_022436.3(ABCG5):c.1537G>C (p.Gly513Arg) rs1418170362
NM_022436.3(ABCG5):c.1573C>T (p.Gln525Ter)
NM_022436.3(ABCG5):c.1586T>C (p.Ile529Thr)
NM_022436.3(ABCG5):c.1593C>A (p.Asn531Lys)
NM_022436.3(ABCG5):c.1606C>T (p.Leu536=)
NM_022436.3(ABCG5):c.1620G>A (p.Ala540=) rs145527220
NM_022436.3(ABCG5):c.1621G>T (p.Gly541Trp) rs142109022
NM_022436.3(ABCG5):c.1637_1642dup (p.Gly547_Phe548insSerGly)
NM_022436.3(ABCG5):c.1649+10C>A
NM_022436.3(ABCG5):c.1649+10_1649+12del
NM_022436.3(ABCG5):c.1649+9T>A rs770594428
NM_022436.3(ABCG5):c.1650-14T>C
NM_022436.3(ABCG5):c.1650-2A>T
NM_022436.3(ABCG5):c.1657C>T (p.Gln553Ter)
NM_022436.3(ABCG5):c.1681dup (p.Ile561fs)
NM_022436.3(ABCG5):c.1727T>C (p.Val576Ala)
NM_022436.3(ABCG5):c.1735G>T (p.Glu579Ter)
NM_022436.3(ABCG5):c.1758T>C (p.Thr586=)
NM_022436.3(ABCG5):c.1762+11T>C
NM_022436.3(ABCG5):c.1762+14T>C
NM_022436.3(ABCG5):c.1762+15T>C
NM_022436.3(ABCG5):c.1762+1G>A
NM_022436.3(ABCG5):c.1763-16A>C
NM_022436.3(ABCG5):c.1763-18C>T
NM_022436.3(ABCG5):c.1763-1G>A
NM_022436.3(ABCG5):c.1768T>C (p.Ser590Pro) rs1666580204
NM_022436.3(ABCG5):c.1770A>T (p.Ser590=)
NM_022436.3(ABCG5):c.1776T>G (p.Val592=)
NM_022436.3(ABCG5):c.1799G>A (p.Cys600Tyr)
NM_022436.3(ABCG5):c.1826T>C (p.Ile609Thr)
NM_022436.3(ABCG5):c.1827T>G (p.Ile609Met)
NM_022436.3(ABCG5):c.1838G>A (p.Cys613Tyr) rs1572735428
NM_022436.3(ABCG5):c.1846G>A (p.Ala616Thr)
NM_022436.3(ABCG5):c.1850C>G (p.Thr617Arg) rs528636525
NM_022436.3(ABCG5):c.1873C>G (p.Leu625Val) rs774651183
NM_022436.3(ABCG5):c.1886C>G (p.Ser629Ter) rs772295351
NM_022436.3(ABCG5):c.1890del (p.Phe630fs) rs769429015
NM_022436.3(ABCG5):c.1904T>C (p.Val635Ala) rs1666569140
NM_022436.3(ABCG5):c.1913G>A (p.Gly638Glu)
NM_022436.3(ABCG5):c.1953G>A (p.Arg651=)
NM_022436.3(ABCG5):c.502-7C>T
NM_022436.3(ABCG5):c.509C>A (p.Ala170Asp)
NM_022436.3(ABCG5):c.509C>T (p.Ala170Val) rs145505499
NM_022436.3(ABCG5):c.529C>G (p.Leu177Val)
NM_022436.3(ABCG5):c.531G>C (p.Leu177=)
NM_022436.3(ABCG5):c.537T>A (p.His179Gln)
NM_022436.3(ABCG5):c.539T>A (p.Val180Glu)
NM_022436.3(ABCG5):c.543A>C (p.Ala181=)
NM_022436.3(ABCG5):c.547C>T (p.Arg183Ter)
NM_022436.3(ABCG5):c.550C>T (p.Leu184=) rs762951266
NM_022436.3(ABCG5):c.566G>C (p.Ser189Thr)
NM_022436.3(ABCG5):c.575del (p.Gly192fs) rs762031825
NM_022436.3(ABCG5):c.576del (p.Ile193fs)
NM_022436.3(ABCG5):c.595C>T (p.Arg199Cys) rs376129056
NM_022436.3(ABCG5):c.598C>G (p.Arg200Gly) rs986330996
NM_022436.3(ABCG5):c.598C>T (p.Arg200Trp)
NM_022436.3(ABCG5):c.600G>A (p.Arg200=)
NM_022436.3(ABCG5):c.606C>T (p.Ser202=)
NM_022436.3(ABCG5):c.609C>T (p.Ile203=)
NM_022436.3(ABCG5):c.634+19T>C
NM_022436.3(ABCG5):c.634+1G>A rs370368811
NM_022436.3(ABCG5):c.634+1G>C rs370368811
NM_022436.3(ABCG5):c.634+6T>G rs1397305308
NM_022436.3(ABCG5):c.635-153_1588del
NM_022436.3(ABCG5):c.635-15C>T
NM_022436.3(ABCG5):c.651T>C (p.Asp217=)
NM_022436.3(ABCG5):c.656C>G (p.Pro219Arg)
NM_022436.3(ABCG5):c.676A>G (p.Met226Val)
NM_022436.3(ABCG5):c.680C>G (p.Thr227Ser)
NM_022436.3(ABCG5):c.686A>C (p.Asn229Thr)
NM_022436.3(ABCG5):c.697G>A (p.Val233Ile)
NM_022436.3(ABCG5):c.706G>C (p.Val236Leu)
NM_022436.3(ABCG5):c.711A>G (p.Glu237=)
NM_022436.3(ABCG5):c.715G>A (p.Ala239Thr) rs886056029
NM_022436.3(ABCG5):c.718C>T (p.Arg240Cys) rs1018070975
NM_022436.3(ABCG5):c.719G>A (p.Arg240His)
NM_022436.3(ABCG5):c.719G>T (p.Arg240Leu)
NM_022436.3(ABCG5):c.720C>T (p.Arg240=)
NM_022436.3(ABCG5):c.723G>T (p.Arg241Ser)
NM_022436.3(ABCG5):c.727C>T (p.Arg243Ter) rs119479066
NM_022436.3(ABCG5):c.728G>T (p.Arg243Leu)
NM_022436.3(ABCG5):c.731T>C (p.Ile244Thr)
NM_022436.3(ABCG5):c.735G>T (p.Val245=)
NM_022436.3(ABCG5):c.736G>A (p.Val246Ile)
NM_022436.3(ABCG5):c.757C>T (p.Arg253Cys)
NM_022436.3(ABCG5):c.761C>T (p.Ser254Phe)
NM_022436.3(ABCG5):c.774+13A>T
NM_022436.3(ABCG5):c.774+17G>A
NM_022436.3(ABCG5):c.775-16T>A
NM_022436.3(ABCG5):c.775-18C>G rs200416765
NM_022436.3(ABCG5):c.775-18C>T rs200416765
NM_022436.3(ABCG5):c.775C>T (p.Leu259Phe)
NM_022436.3(ABCG5):c.791C>T (p.Ala264Val)
NM_022436.3(ABCG5):c.803T>A (p.Phe268Tyr) rs770103215
NM_022436.3(ABCG5):c.805G>A (p.Gly269Arg)
NM_022436.3(ABCG5):c.832G>A (p.Ala278Thr) rs1479033652
NM_022436.3(ABCG5):c.833C>A (p.Ala278Glu)
NM_022436.3(ABCG5):c.833C>T (p.Ala278Val)
NM_022436.3(ABCG5):c.849C>T (p.Phe283=)
NM_022436.3(ABCG5):c.854A>G (p.Asn285Ser)
NM_022436.3(ABCG5):c.862G>A (p.Gly288Ser)
NM_022436.3(ABCG5):c.862G>T (p.Gly288Cys) rs139264483
NM_022436.3(ABCG5):c.866A>G (p.Tyr289Cys) rs759892269
NM_022436.3(ABCG5):c.901T>C (p.Tyr301His)
NM_022436.3(ABCG5):c.904+17C>T
NM_022436.3(ABCG5):c.904+1G>A
NM_022436.3(ABCG5):c.904+3_904+6del
NM_022436.3(ABCG5):c.905-13G>C
NM_022436.3(ABCG5):c.905-20C>A
NM_022436.3(ABCG5):c.905-3T>C
NM_022436.3(ABCG5):c.905-3dup rs142037828
NM_022436.3(ABCG5):c.914C>G (p.Thr305Arg) rs143740796
NM_022436.3(ABCG5):c.914C>T (p.Thr305Met)
NM_022436.3(ABCG5):c.918A>C (p.Ser306=)
NM_022436.3(ABCG5):c.922G>C (p.Asp308His) rs767648807
NM_022436.3(ABCG5):c.933C>T (p.Ser311=) rs774304589
NM_022436.3(ABCG5):c.939A>G (p.Glu313=)
NM_022436.3(ABCG5):c.962G>A (p.Arg321Lys) rs1348348567
NM_022436.3(ABCG5):c.963A>C (p.Arg321Ser) rs1667456050
NM_022436.3(ABCG5):c.978A>G (p.Glu326=)
NM_022436.3(ABCG5):c.978del (p.Glu326fs) rs869025350
NM_022436.3(ABCG5):c.988A>G (p.Lys330Glu)

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