ClinVar Miner

List of variants in gene ITGB2 reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 261
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HGVS dbSNP gnomAD frequency
NM_000211.5(ITGB2):c.1358G>A (p.Ser453Asn) rs138659490 0.00056
NM_000211.5(ITGB2):c.314T>C (p.Leu105Pro) rs145851783 0.00031
NM_000211.5(ITGB2):c.1697C>T (p.Pro566Leu) rs373223342 0.00024
NM_000211.5(ITGB2):c.805T>C (p.Phe269Leu) rs151274588 0.00020
NM_000211.5(ITGB2):c.1274C>T (p.Ser425Leu) rs375122306 0.00019
NM_000211.5(ITGB2):c.1247C>T (p.Thr416Met) rs113084585 0.00013
NM_000211.5(ITGB2):c.2041G>A (p.Gly681Arg) rs778865777 0.00013
NM_000211.5(ITGB2):c.1306A>G (p.Ile436Val) rs142489611 0.00011
NM_000211.5(ITGB2):c.1969G>A (p.Val657Met) rs376990045 0.00011
NM_000211.5(ITGB2):c.625A>C (p.Lys209Gln) rs769571214 0.00011
NM_000211.5(ITGB2):c.327A>G (p.Pro109=) rs199932521 0.00010
NM_000211.5(ITGB2):c.335C>T (p.Ala112Val) rs374494108 0.00010
NM_000211.5(ITGB2):c.77C>G (p.Thr26Arg) rs148038936 0.00010
NM_000211.5(ITGB2):c.892G>A (p.Glu298Lys) rs368371881 0.00010
NM_000211.5(ITGB2):c.733G>A (p.Ala245Thr) rs144280462 0.00009
NM_000211.5(ITGB2):c.1349G>A (p.Arg450Gln) rs764262758 0.00008
NM_000211.5(ITGB2):c.1754C>T (p.Pro585Leu) rs370702628 0.00007
NM_000211.5(ITGB2):c.1070A>G (p.Lys357Arg) rs530620955 0.00006
NM_000211.5(ITGB2):c.1462C>T (p.Arg488Trp) rs766548458 0.00006
NM_000211.5(ITGB2):c.1567G>A (p.Asp523Asn) rs199976562 0.00006
NM_000211.5(ITGB2):c.1570G>A (p.Val524Ile) rs201654243 0.00006
NM_000211.5(ITGB2):c.181C>T (p.Arg61Cys) rs375038257 0.00006
NM_000211.5(ITGB2):c.2128G>A (p.Ala710Thr) rs776689530 0.00006
NM_000211.5(ITGB2):c.2149A>G (p.Ile717Val) rs753452987 0.00006
NM_000211.5(ITGB2):c.2210G>A (p.Arg737His) rs138714119 0.00006
NM_000211.5(ITGB2):c.275A>G (p.Asn92Ser) rs760545709 0.00006
NM_000211.5(ITGB2):c.854G>A (p.Arg285His) rs769752245 0.00006
NM_000211.5(ITGB2):c.112G>A (p.Glu38Lys) rs374031101 0.00005
NM_000211.5(ITGB2):c.163G>C (p.Gly55Arg) rs778653538 0.00005
NM_000211.5(ITGB2):c.194G>A (p.Arg65Gln) rs144806686 0.00005
NM_000211.5(ITGB2):c.740C>T (p.Pro247Leu) rs772666841 0.00005
NM_000211.5(ITGB2):c.763G>A (p.Val255Ile) rs200206541 0.00005
NM_000211.5(ITGB2):c.767C>T (p.Thr256Met) rs756545465 0.00005
NM_000211.5(ITGB2):c.961G>A (p.Ala321Thr) rs377140902 0.00005
NM_000211.5(ITGB2):c.1343G>A (p.Arg448Gln) rs149279736 0.00004
NM_000211.5(ITGB2):c.1885G>A (p.Ala629Thr) rs200894474 0.00004
NM_000211.5(ITGB2):c.1937C>T (p.Ala646Val) rs201413647 0.00004
NM_000211.5(ITGB2):c.2107G>A (p.Ala703Thr) rs1045859276 0.00004
NM_000211.5(ITGB2):c.221C>T (p.Ala74Val) rs201354221 0.00004
NM_000211.5(ITGB2):c.359G>A (p.Arg120Gln) rs371519127 0.00004
NM_000211.5(ITGB2):c.493C>T (p.Arg165Cys) rs759935924 0.00004
NM_000211.5(ITGB2):c.500-3C>T rs376484884 0.00004
NM_000211.5(ITGB2):c.57C>T (p.Cys19=) rs533892661 0.00004
NM_000211.5(ITGB2):c.796G>A (p.Gly266Ser) rs764894987 0.00004
NM_000211.5(ITGB2):c.808G>A (p.Ala270Thr) rs148775158 0.00004
NM_000211.5(ITGB2):c.101G>A (p.Arg34Gln) rs140032296 0.00003
NM_000211.5(ITGB2):c.1678G>A (p.Gly560Arg) rs747266748 0.00003
NM_000211.5(ITGB2):c.1715C>T (p.Ala572Val) rs773732447 0.00003
NM_000211.5(ITGB2):c.1726G>A (p.Glu576Lys) rs145507744 0.00003
NM_000211.5(ITGB2):c.1778G>A (p.Arg593His) rs749255547 0.00003
NM_000211.5(ITGB2):c.178A>G (p.Ile60Val) rs781730372 0.00003
NM_000211.5(ITGB2):c.182G>A (p.Arg61His) rs752119939 0.00003
NM_000211.5(ITGB2):c.1943C>T (p.Pro648Leu) rs373963624 0.00003
NM_000211.5(ITGB2):c.2004G>C (p.Glu668Asp) rs565042973 0.00003
NM_000211.5(ITGB2):c.2051G>A (p.Arg684His) rs780361764 0.00003
NM_000211.5(ITGB2):c.2078G>A (p.Arg693Gln) rs200335681 0.00003
NM_000211.5(ITGB2):c.260C>G (p.Thr87Ser) rs754994927 0.00003
NM_000211.5(ITGB2):c.602C>T (p.Pro201Leu) rs372179082 0.00003
NM_000211.5(ITGB2):c.829G>A (p.Ala277Thr) rs752291593 0.00003
NM_000211.5(ITGB2):c.1024G>A (p.Val342Met) rs759487369 0.00002
NM_000211.5(ITGB2):c.1117G>A (p.Ala373Thr) rs752903416 0.00002
NM_000211.5(ITGB2):c.1165G>A (p.Gly389Arg) rs372510204 0.00002
NM_000211.5(ITGB2):c.1223C>T (p.Pro408Leu) rs763860990 0.00002
NM_000211.5(ITGB2):c.1655C>T (p.Pro552Leu) rs201000019 0.00002
NM_000211.5(ITGB2):c.172G>A (p.Asp58Asn) rs1439079846 0.00002
NM_000211.5(ITGB2):c.1760G>A (p.Arg587His) rs772406915 0.00002
NM_000211.5(ITGB2):c.176C>T (p.Ser59Phe) rs1038389954 0.00002
NM_000211.5(ITGB2):c.1784G>A (p.Arg595Gln) rs750019280 0.00002
NM_000211.5(ITGB2):c.2027T>A (p.Leu676Gln) rs986681121 0.00002
NM_000211.5(ITGB2):c.213G>C (p.Arg71Ser) rs371854500 0.00002
NM_000211.5(ITGB2):c.2295G>C (p.Lys765Asn) rs750477817 0.00002
NM_000211.5(ITGB2):c.353C>A (p.Thr118Asn) rs758449686 0.00002
NM_000211.5(ITGB2):c.475G>A (p.Glu159Lys) rs765779500 0.00002
NM_000211.5(ITGB2):c.563G>A (p.Arg188Gln) rs1053155608 0.00002
NM_000211.5(ITGB2):c.634A>G (p.Asn212Asp) rs376609171 0.00002
NM_000211.5(ITGB2):c.643A>G (p.Asn215Asp) rs770505759 0.00002
NM_000211.5(ITGB2):c.80A>G (p.Lys27Arg) rs568718880 0.00002
NM_000211.5(ITGB2):c.1003G>A (p.Glu335Lys) rs762699337 0.00001
NM_000211.5(ITGB2):c.100C>T (p.Arg34Trp) rs775878305 0.00001
NM_000211.5(ITGB2):c.1083T>C (p.Asn361=) rs536046546 0.00001
NM_000211.5(ITGB2):c.1126G>A (p.Asp376Asn) rs371120443 0.00001
NM_000211.5(ITGB2):c.116C>T (p.Ser39Leu) rs368899902 0.00001
NM_000211.5(ITGB2):c.1179G>C (p.Arg393Ser) rs1162085262 0.00001
NM_000211.5(ITGB2):c.1187C>T (p.Pro396Leu) rs998582323 0.00001
NM_000211.5(ITGB2):c.1207G>A (p.Val403Met) rs779705397 0.00001
NM_000211.5(ITGB2):c.1219G>A (p.Val407Ile) rs1342077214 0.00001
NM_000211.5(ITGB2):c.1224G>A (p.Pro408=) rs777120738 0.00001
NM_000211.5(ITGB2):c.1286G>A (p.Arg429Gln) rs775531955 0.00001
NM_000211.5(ITGB2):c.1342C>T (p.Arg448Trp) rs532267693 0.00001
NM_000211.5(ITGB2):c.1379A>G (p.His460Arg) rs201739251 0.00001
NM_000211.5(ITGB2):c.1410C>T (p.Cys470=) rs753427314 0.00001
NM_000211.5(ITGB2):c.1424G>A (p.Gly475Asp) rs1460164455 0.00001
NM_000211.5(ITGB2):c.1430T>C (p.Ile477Thr) rs376491409 0.00001
NM_000211.5(ITGB2):c.1435A>G (p.Lys479Glu) rs946605387 0.00001
NM_000211.5(ITGB2):c.1473G>C (p.Gln491His) rs1052256139 0.00001
NM_000211.5(ITGB2):c.1493G>A (p.Arg498Gln) rs369318947 0.00001
NM_000211.5(ITGB2):c.1571T>C (p.Val524Ala) rs764061135 0.00001
NM_000211.5(ITGB2):c.1576G>A (p.Gly526Ser) rs745512221 0.00001
NM_000211.5(ITGB2):c.1630T>C (p.Tyr544His) rs201703437 0.00001
NM_000211.5(ITGB2):c.1687C>T (p.Arg563Cys) rs777922680 0.00001
NM_000211.5(ITGB2):c.1757G>A (p.Arg586Gln) rs921337956 0.00001
NM_000211.5(ITGB2):c.1762G>A (p.Val588Ile) rs748258747 0.00001
NM_000211.5(ITGB2):c.1850G>A (p.Gly617Asp) rs1023125903 0.00001
NM_000211.5(ITGB2):c.1861C>G (p.Pro621Ala) rs1278051736 0.00001
NM_000211.5(ITGB2):c.187G>A (p.Asp63Asn) rs758534687 0.00001
NM_000211.5(ITGB2):c.1903G>A (p.Glu635Lys) rs758504990 0.00001
NM_000211.5(ITGB2):c.1904A>T (p.Glu635Val) rs374132330 0.00001
NM_000211.5(ITGB2):c.1934C>T (p.Ala645Val) rs371045998 0.00001
NM_000211.5(ITGB2):c.1958C>T (p.Ser653Leu) rs899349769 0.00001
NM_000211.5(ITGB2):c.2024C>T (p.Thr675Met) rs778278328 0.00001
NM_000211.5(ITGB2):c.2073G>C (p.Glu691Asp) rs879017906 0.00001
NM_000211.5(ITGB2):c.2104G>A (p.Ala702Thr) rs540038454 0.00001
NM_000211.5(ITGB2):c.2113G>A (p.Val705Ile) rs373065825 0.00001
NM_000211.5(ITGB2):c.2119G>T (p.Gly707Cys) rs1338483196 0.00001
NM_000211.5(ITGB2):c.2125G>A (p.Val709Met) rs775809970 0.00001
NM_000211.5(ITGB2):c.2132G>T (p.Gly711Val) rs771201581 0.00001
NM_000211.5(ITGB2):c.2141T>C (p.Leu714Pro) rs1261871346 0.00001
NM_000211.5(ITGB2):c.2247T>C (p.Asn749=) rs773262146 0.00001
NM_000211.5(ITGB2):c.235A>G (p.Met79Val) rs932194440 0.00001
NM_000211.5(ITGB2):c.253G>A (p.Ala85Thr) rs548099370 0.00001
NM_000211.5(ITGB2):c.302A>G (p.Gln101Arg) rs763707922 0.00001
NM_000211.5(ITGB2):c.329-2dup rs758945566 0.00001
NM_000211.5(ITGB2):c.349G>A (p.Val117Met) rs777688420 0.00001
NM_000211.5(ITGB2):c.400G>A (p.Asp134Asn) rs745917556 0.00001
NM_000211.5(ITGB2):c.464G>A (p.Arg155Gln) rs778870549 0.00001
NM_000211.5(ITGB2):c.514G>A (p.Val172Met) rs2083962040 0.00001
NM_000211.5(ITGB2):c.702G>A (p.Glu234=) rs747079516 0.00001
NM_000211.5(ITGB2):c.718A>G (p.Met240Val) rs1601305422 0.00001
NM_000211.5(ITGB2):c.770G>A (p.Arg257Gln) rs1482665972 0.00001
NM_000211.5(ITGB2):c.814G>A (p.Asp272Asn) rs749335770 0.00001
NM_000211.5(ITGB2):c.897C>T (p.Phe299=) rs150327269 0.00001
NM_000211.5(ITGB2):c.908C>T (p.Ser303Leu) rs758627354 0.00001
NM_000211.5(ITGB2):c.918G>C (p.Gln306His) rs541510772 0.00001
NM_000211.5(ITGB2):c.956T>C (p.Ile319Thr) rs1601299390 0.00001
NM_000211.5(ITGB2):c.993+6T>A rs1374911814 0.00001
NM_000211.5(ITGB2):c.1034T>C (p.Leu345Pro) rs1460516188
NM_000211.5(ITGB2):c.106T>G (p.Cys36Gly) rs2084111337
NM_000211.5(ITGB2):c.1081A>C (p.Asn361His) rs2083842316
NM_000211.5(ITGB2):c.1105C>A (p.Leu369Met) rs2146508445
NM_000211.5(ITGB2):c.1112A>T (p.His371Leu) rs2083821185
NM_000211.5(ITGB2):c.1130_1131delinsTT (p.Thr377Ile)
NM_000211.5(ITGB2):c.1138G>C (p.Val380Leu) rs1273615785
NM_000211.5(ITGB2):c.1159A>C (p.Ser387Arg)
NM_000211.5(ITGB2):c.1176C>G (p.His392Gln)
NM_000211.5(ITGB2):c.1177A>G (p.Arg393Gly) rs2083819691
NM_000211.5(ITGB2):c.1202A>G (p.Asp401Gly)
NM_000211.5(ITGB2):c.1205G>A (p.Gly402Asp) rs2146508200
NM_000211.5(ITGB2):c.1206C>T (p.Gly402=) rs753706143
NM_000211.5(ITGB2):c.121C>T (p.Pro41Ser) rs2146546214
NM_000211.5(ITGB2):c.1224+5G>A rs2146508114
NM_000211.5(ITGB2):c.1225-3C>T
NM_000211.5(ITGB2):c.124G>A (p.Gly42Ser)
NM_000211.5(ITGB2):c.1286G>C (p.Arg429Pro) rs775531955
NM_000211.5(ITGB2):c.1301C>T (p.Thr434Met) rs147537677
NM_000211.5(ITGB2):c.1315G>A (p.Val439Met)
NM_000211.5(ITGB2):c.1319A>C (p.Gln440Pro)
NM_000211.5(ITGB2):c.1319A>G (p.Gln440Arg)
NM_000211.5(ITGB2):c.131C>T (p.Thr44Ile) rs1601322083
NM_000211.5(ITGB2):c.1321G>A (p.Val441Ile)
NM_000211.5(ITGB2):c.1332G>T (p.Gln444His) rs767850773
NM_000211.5(ITGB2):c.1366C>T (p.Arg456Cys) rs146014032
NM_000211.5(ITGB2):c.1367G>A (p.Arg456His)
NM_000211.5(ITGB2):c.137G>T (p.Cys46Phe)
NM_000211.5(ITGB2):c.1382G>C (p.Gly461Ala) rs1451408184
NM_000211.5(ITGB2):c.1390T>G (p.Phe464Val) rs1601287199
NM_000211.5(ITGB2):c.1392C>G (p.Phe464Leu)
NM_000211.5(ITGB2):c.13C>A (p.Arg5Ser) rs61737078
NM_000211.5(ITGB2):c.1405A>G (p.Ile469Val) rs2146504186
NM_000211.5(ITGB2):c.1413-6C>A rs905822395
NM_000211.5(ITGB2):c.1467C>G (p.Ser489Arg) rs2146500437
NM_000211.5(ITGB2):c.1492C>T (p.Arg498Trp) rs372695770
NM_000211.5(ITGB2):c.1495A>C (p.Lys499Gln) rs2083765900
NM_000211.5(ITGB2):c.1507T>A (p.Ser503Thr) rs1568882038
NM_000211.5(ITGB2):c.1507T>C (p.Ser503Pro)
NM_000211.5(ITGB2):c.1513A>G (p.Ile505Val) rs2083765269
NM_000211.5(ITGB2):c.151T>A (p.Phe51Ile)
NM_000211.5(ITGB2):c.1570G>T (p.Val524Phe)
NM_000211.5(ITGB2):c.1576_1581del (p.Gly526_Lys527del) rs2083763778
NM_000211.5(ITGB2):c.1602C>T (p.Cys534=) rs748574145
NM_000211.5(ITGB2):c.1619A>G (p.Asn540Ser)
NM_000211.5(ITGB2):c.1628G>A (p.Arg543His)
NM_000211.5(ITGB2):c.1636G>A (p.Gly546Ser) rs1052752055
NM_000211.5(ITGB2):c.1648G>A (p.Gly550Ser)
NM_000211.5(ITGB2):c.1651G>A (p.Gly551Ser)
NM_000211.5(ITGB2):c.1656G>A (p.Pro552=) rs759039359
NM_000211.5(ITGB2):c.1656G>C (p.Pro552=) rs759039359
NM_000211.5(ITGB2):c.1666C>T (p.Leu556Phe)
NM_000211.5(ITGB2):c.1678G>C (p.Gly560Arg) rs747266748
NM_000211.5(ITGB2):c.1694A>T (p.His565Leu) rs965990834
NM_000211.5(ITGB2):c.169C>A (p.Pro57Thr) rs1401782366
NM_000211.5(ITGB2):c.1700G>T (p.Gly567Val) rs754953540
NM_000211.5(ITGB2):c.1709G>A (p.Gly570Asp) rs2083752823
NM_000211.5(ITGB2):c.1711T>G (p.Ser571Ala) rs1006758335
NM_000211.5(ITGB2):c.175T>A (p.Ser59Thr)
NM_000211.5(ITGB2):c.1790G>A (p.Arg597His)
NM_000211.5(ITGB2):c.1798G>A (p.Val600Ile)
NM_000211.5(ITGB2):c.1804G>A (p.Glu602Lys) rs145850370
NM_000211.5(ITGB2):c.1828C>T (p.Pro610Ser) rs2083749841
NM_000211.5(ITGB2):c.1849G>A (p.Gly617Ser)
NM_000211.5(ITGB2):c.1862C>T (p.Pro621Leu) rs2083748907
NM_000211.5(ITGB2):c.1877+4A>T rs2146497740
NM_000211.5(ITGB2):c.187G>C (p.Asp63His) rs758534687
NM_000211.5(ITGB2):c.1880C>G (p.Ser627Cys) rs964332173
NM_000211.5(ITGB2):c.1908G>C (p.Lys636Asn) rs1601281049
NM_000211.5(ITGB2):c.1912C>T (p.Pro638Ser)
NM_000211.5(ITGB2):c.1933G>A (p.Ala645Thr) rs142112499
NM_000211.5(ITGB2):c.1933G>T (p.Ala645Ser) rs142112499
NM_000211.5(ITGB2):c.193C>T (p.Arg65Trp)
NM_000211.5(ITGB2):c.1982C>T (p.Thr661Ile) rs2083736727
NM_000211.5(ITGB2):c.19C>G (p.Pro7Ala) rs753110953
NM_000211.5(ITGB2):c.2014G>T (p.Val672Leu)
NM_000211.5(ITGB2):c.2029G>A (p.Glu677Lys)
NM_000211.5(ITGB2):c.203T>G (p.Leu68Arg)
NM_000211.5(ITGB2):c.2078G>C (p.Arg693Pro) rs200335681
NM_000211.5(ITGB2):c.2080+6G>C rs1044311307
NM_000211.5(ITGB2):c.2090C>T (p.Ala697Val)
NM_000211.5(ITGB2):c.20C>A (p.Pro7Gln) rs759479855
NM_000211.5(ITGB2):c.2116G>A (p.Gly706Arg) rs202203340
NM_000211.5(ITGB2):c.2120G>C (p.Gly707Ala) rs2146491308
NM_000211.5(ITGB2):c.218G>A (p.Cys73Tyr)
NM_000211.5(ITGB2):c.2198G>A (p.Arg733Gln)
NM_000211.5(ITGB2):c.2269G>A (p.Ala757Thr) rs1421408165
NM_000211.5(ITGB2):c.2285T>G (p.Met762Arg)
NM_000211.5(ITGB2):c.228C>A (p.Asp76Glu) rs368629638
NM_000211.5(ITGB2):c.229G>T (p.Asp77Tyr) rs141799330
NM_000211.5(ITGB2):c.2302G>C (p.Glu768Gln)
NM_000211.5(ITGB2):c.242C>G (p.Pro81Arg) rs2146538855
NM_000211.5(ITGB2):c.248G>A (p.Ser83Asn)
NM_000211.5(ITGB2):c.260C>T (p.Thr87Ile) rs754994927
NM_000211.5(ITGB2):c.263A>G (p.Gln88Arg)
NM_000211.5(ITGB2):c.281G>A (p.Gly94Asp) rs761719553
NM_000211.5(ITGB2):c.289C>A (p.Gln97Lys) rs2146538713
NM_000211.5(ITGB2):c.323G>A (p.Arg108Gln) rs550007417
NM_000211.5(ITGB2):c.347A>G (p.Asn116Ser) rs915995681
NM_000211.5(ITGB2):c.353C>T (p.Thr118Ile)
NM_000211.5(ITGB2):c.355T>G (p.Phe119Val)
NM_000211.5(ITGB2):c.377C>G (p.Pro126Arg) rs763505620
NM_000211.5(ITGB2):c.400G>T (p.Asp134Tyr) rs745917556
NM_000211.5(ITGB2):c.402C>G (p.Asp134Glu) rs1601310189
NM_000211.5(ITGB2):c.421G>C (p.Asp141His)
NM_000211.5(ITGB2):c.474C>A (p.Asn158Lys)
NM_000211.5(ITGB2):c.493C>G (p.Arg165Gly) rs759935924
NM_000211.5(ITGB2):c.494G>A (p.Arg165His)
NM_000211.5(ITGB2):c.503T>C (p.Phe168Ser) rs2083962255
NM_000211.5(ITGB2):c.555T>G (p.Asp185Glu) rs2083961139
NM_000211.5(ITGB2):c.58G>A (p.Val20Ile) rs111663308
NM_000211.5(ITGB2):c.646C>G (p.Gln216Glu) rs976487831
NM_000211.5(ITGB2):c.662T>A (p.Val221Asp)
NM_000211.5(ITGB2):c.730G>A (p.Ala244Thr)
NM_000211.5(ITGB2):c.757C>A (p.Arg253Ser) rs772607011
NM_000211.5(ITGB2):c.757C>T (p.Arg253Cys)
NM_000211.5(ITGB2):c.758G>A (p.Arg253His) rs200423927
NM_000211.5(ITGB2):c.827G>A (p.Gly276Asp) rs1207286440
NM_000211.5(ITGB2):c.880A>G (p.Lys294Glu) rs2083933179
NM_000211.5(ITGB2):c.88G>A (p.Val30Ile) rs962637993
NM_000211.5(ITGB2):c.897+6T>C rs2083932728
NM_000211.5(ITGB2):c.898G>A (p.Asp300Asn)
NM_000211.5(ITGB2):c.932T>C (p.Leu311Pro) rs2083910472
NM_000211.5(ITGB2):c.974G>A (p.Arg325Lys)
NM_000211.5(ITGB2):c.979G>C (p.Val327Leu) rs753051803
NM_000211.5(ITGB2):c.991G>A (p.Glu331Lys)

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