ClinVar Miner

List of variants in gene BAP1 reported as uncertain significance by Ambry Genetics

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 566
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HGVS dbSNP gnomAD frequency
NM_004656.4(BAP1):c.905C>T (p.Pro302Leu) rs149158790 0.00041
NM_004656.4(BAP1):c.404C>T (p.Pro135Leu) rs374928824 0.00017
NM_004656.4(BAP1):c.1045A>G (p.Asn349Asp) rs765742255 0.00004
NM_004656.4(BAP1):c.1442A>G (p.His481Arg) rs150441842 0.00004
NM_004656.4(BAP1):c.916G>A (p.Glu306Lys) rs779566198 0.00004
NM_004656.4(BAP1):c.1058T>C (p.Ile353Thr) rs754217069 0.00003
NM_004656.4(BAP1):c.1066C>T (p.Arg356Trp) rs761029538 0.00003
NM_004656.4(BAP1):c.1073C>T (p.Pro358Leu) rs773379358 0.00003
NM_004656.4(BAP1):c.1218G>T (p.Glu406Asp) rs752703914 0.00003
NM_004656.4(BAP1):c.1249A>G (p.Arg417Gly) rs767064896 0.00003
NM_004656.4(BAP1):c.316G>A (p.Val106Met) rs754385495 0.00003
NM_004656.4(BAP1):c.1049C>T (p.Pro350Leu) rs1454833874 0.00002
NM_004656.4(BAP1):c.1225G>A (p.Val409Met) rs756443059 0.00002
NM_004656.4(BAP1):c.1345G>A (p.Ala449Thr) rs764734266 0.00002
NM_004656.4(BAP1):c.1652G>A (p.Arg551His) rs759448397 0.00002
NM_004656.4(BAP1):c.1807G>A (p.Val603Ile) rs1329653090 0.00002
NM_004656.4(BAP1):c.358A>G (p.Lys120Glu) rs774573926 0.00002
NM_004656.4(BAP1):c.895A>G (p.Asn299Asp) rs1411545493 0.00002
NM_004656.4(BAP1):c.1030A>C (p.Asn344His) rs1332735229 0.00001
NM_004656.4(BAP1):c.1057A>G (p.Ile353Val) rs1454672768 0.00001
NM_004656.4(BAP1):c.1067G>A (p.Arg356Gln) rs1192490528 0.00001
NM_004656.4(BAP1):c.1081C>T (p.Leu361=) rs1460743052 0.00001
NM_004656.4(BAP1):c.1129C>G (p.Leu377Val) rs376033003 0.00001
NM_004656.4(BAP1):c.1133C>T (p.Ala378Val) rs1466585782 0.00001
NM_004656.4(BAP1):c.1148G>A (p.Arg383His) rs374620220 0.00001
NM_004656.4(BAP1):c.1152C>G (p.Ser384Arg) rs752864098 0.00001
NM_004656.4(BAP1):c.1154G>A (p.Arg385Gln) rs765258055 0.00001
NM_004656.4(BAP1):c.1156G>A (p.Val386Ile) rs372213315 0.00001
NM_004656.4(BAP1):c.1160C>A (p.Pro387Gln) rs1404481415 0.00001
NM_004656.4(BAP1):c.1165C>T (p.Arg389Cys) rs373809972 0.00001
NM_004656.4(BAP1):c.1168C>G (p.Pro390Ala) rs1425178905 0.00001
NM_004656.4(BAP1):c.1178A>G (p.Gln393Arg) rs772689479 0.00001
NM_004656.4(BAP1):c.1210G>A (p.Asp404Asn) rs1035262201 0.00001
NM_004656.4(BAP1):c.1213G>A (p.Glu405Lys) rs1705082679 0.00001
NM_004656.4(BAP1):c.1238A>C (p.Asn413Thr) rs1231899667 0.00001
NM_004656.4(BAP1):c.1243G>C (p.Ala415Pro) rs773097896 0.00001
NM_004656.4(BAP1):c.124C>T (p.Pro42Ser) rs1467630034 0.00001
NM_004656.4(BAP1):c.1251-3C>T rs767276752 0.00001
NM_004656.4(BAP1):c.1251-4A>G rs750343039 0.00001
NM_004656.4(BAP1):c.1253A>G (p.Tyr418Cys) rs773947541 0.00001
NM_004656.4(BAP1):c.1280G>T (p.Gly427Val) rs761183483 0.00001
NM_004656.4(BAP1):c.1334T>C (p.Ile445Thr) rs781013694 0.00001
NM_004656.4(BAP1):c.1349A>G (p.Glu450Gly) rs1459047463 0.00001
NM_004656.4(BAP1):c.1354C>T (p.Leu452Phe) rs1273586744 0.00001
NM_004656.4(BAP1):c.1358A>G (p.Lys453Arg) rs758996824 0.00001
NM_004656.4(BAP1):c.1375C>T (p.Leu459Phe) rs1578221032 0.00001
NM_004656.4(BAP1):c.1385C>T (p.Pro462Leu) rs772505081 0.00001
NM_004656.4(BAP1):c.1411G>A (p.Ala471Thr) rs946145283 0.00001
NM_004656.4(BAP1):c.1412C>T (p.Ala471Val) rs749456076 0.00001
NM_004656.4(BAP1):c.1439C>T (p.Thr480Ile) rs752302472 0.00001
NM_004656.4(BAP1):c.1446G>A (p.Ser482=) rs768062289 0.00001
NM_004656.4(BAP1):c.1495A>G (p.Ile499Val) rs775760293 0.00001
NM_004656.4(BAP1):c.1498G>A (p.Gly500Ser) rs1378012462 0.00001
NM_004656.4(BAP1):c.1512C>G (p.Asn504Lys) rs1228626983 0.00001
NM_004656.4(BAP1):c.1534C>T (p.Arg512Cys) rs747938225 0.00001
NM_004656.4(BAP1):c.1547C>T (p.Pro516Leu) rs755719248 0.00001
NM_004656.4(BAP1):c.1549A>C (p.Thr517Pro) rs1449536422 0.00001
NM_004656.4(BAP1):c.1553G>A (p.Arg518Gln) rs535796204 0.00001
NM_004656.4(BAP1):c.1576C>A (p.His526Asn) rs1553644875 0.00001
NM_004656.4(BAP1):c.157A>T (p.Ile53Phe) rs1300365099 0.00001
NM_004656.4(BAP1):c.1583C>T (p.Ser528Phe) rs1578220482 0.00001
NM_004656.4(BAP1):c.1619G>A (p.Arg540His) rs772037576 0.00001
NM_004656.4(BAP1):c.1621G>A (p.Val541Ile) rs1403009542 0.00001
NM_004656.4(BAP1):c.1628G>A (p.Cys543Tyr) rs907231325 0.00001
NM_004656.4(BAP1):c.1633C>T (p.Arg545Cys) rs778628881 0.00001
NM_004656.4(BAP1):c.1634G>A (p.Arg545His) rs71651687 0.00001
NM_004656.4(BAP1):c.1642C>T (p.Arg548Cys) rs748853790 0.00001
NM_004656.4(BAP1):c.1643G>A (p.Arg548His) rs779877855 0.00001
NM_004656.4(BAP1):c.1660G>C (p.Gly554Arg) rs1578220332 0.00001
NM_004656.4(BAP1):c.1663C>A (p.Pro555Thr) rs753264498 0.00001
NM_004656.4(BAP1):c.1669A>G (p.Ile557Val) rs776549962 0.00001
NM_004656.4(BAP1):c.1678G>A (p.Gly560Ser) rs546888007 0.00001
NM_004656.4(BAP1):c.1712G>A (p.Ser571Asn) rs909772484 0.00001
NM_004656.4(BAP1):c.1721C>T (p.Ala574Val) rs761596789 0.00001
NM_004656.4(BAP1):c.1739A>G (p.Lys580Arg) rs1322739239 0.00001
NM_004656.4(BAP1):c.1748C>T (p.Ser583Leu) rs369259771 0.00001
NM_004656.4(BAP1):c.1751C>A (p.Pro584His) rs374877744 0.00001
NM_004656.4(BAP1):c.1769A>T (p.Gln590Leu) rs756472919 0.00001
NM_004656.4(BAP1):c.1790G>T (p.Ser597Ile) rs556046793 0.00001
NM_004656.4(BAP1):c.1793C>G (p.Pro598Arg) rs763927840 0.00001
NM_004656.4(BAP1):c.1833G>C (p.Glu611Asp) rs771494475 0.00001
NM_004656.4(BAP1):c.1837A>G (p.Thr613Ala) rs749728488 0.00001
NM_004656.4(BAP1):c.1858G>A (p.Glu620Lys) rs758585834 0.00001
NM_004656.4(BAP1):c.188C>T (p.Ser63Phe) rs747311942 0.00001
NM_004656.4(BAP1):c.1890+5G>A rs1226269496 0.00001
NM_004656.4(BAP1):c.1943C>T (p.Ala648Val) rs755915077 0.00001
NM_004656.4(BAP1):c.1951_1953del (p.Lys651del) rs1226165465 0.00001
NM_004656.4(BAP1):c.2014G>A (p.Asp672Asn) rs144881611 0.00001
NM_004656.4(BAP1):c.2119G>A (p.Gly707Ser) rs1294983956 0.00001
NM_004656.4(BAP1):c.2150G>A (p.Arg717Gln) rs765539314 0.00001
NM_004656.4(BAP1):c.2158C>T (p.Arg720Cys) rs759611495 0.00001
NM_004656.4(BAP1):c.2165G>A (p.Arg722His) rs1272136993 0.00001
NM_004656.4(BAP1):c.2182C>T (p.Arg728Cys) rs1704980796 0.00001
NM_004656.4(BAP1):c.2185C>T (p.Gln729Ter) rs1412940366 0.00001
NM_004656.4(BAP1):c.227T>C (p.Ile76Thr) rs1221534458 0.00001
NM_004656.4(BAP1):c.250C>T (p.His84Tyr) rs1338231889 0.00001
NM_004656.4(BAP1):c.262C>A (p.Pro88Thr) rs1304265975 0.00001
NM_004656.4(BAP1):c.331A>G (p.Thr111Ala) rs1303575075 0.00001
NM_004656.4(BAP1):c.332C>T (p.Thr111Ile) rs527433244 0.00001
NM_004656.4(BAP1):c.343A>G (p.Met115Val) rs1705219847 0.00001
NM_004656.4(BAP1):c.356C>G (p.Thr119Ser) rs762084469 0.00001
NM_004656.4(BAP1):c.438-3C>T rs1240586632 0.00001
NM_004656.4(BAP1):c.440C>T (p.Pro147Leu) rs775836183 0.00001
NM_004656.4(BAP1):c.449G>A (p.Arg150His) rs1578226535 0.00001
NM_004656.4(BAP1):c.487C>T (p.Arg163Trp) rs1385279115 0.00001
NM_004656.4(BAP1):c.536G>A (p.Arg179Gln) rs1440561167 0.00001
NM_004656.4(BAP1):c.581-4C>T rs1578225974 0.00001
NM_004656.4(BAP1):c.588G>C (p.Trp196Cys) rs1193212091 0.00001
NM_004656.4(BAP1):c.589G>C (p.Gly197Arg) rs1060503739 0.00001
NM_004656.4(BAP1):c.619C>T (p.Arg207Trp) rs1323972421 0.00001
NM_004656.4(BAP1):c.649G>A (p.Ala217Thr) rs1553645702 0.00001
NM_004656.4(BAP1):c.664C>A (p.Pro222Thr) rs780457225 0.00001
NM_004656.4(BAP1):c.722A>G (p.Tyr241Cys) rs367867008 0.00001
NM_004656.4(BAP1):c.737A>G (p.His246Arg) rs1705155794 0.00001
NM_004656.4(BAP1):c.74A>G (p.Lys25Arg) rs759337168 0.00001
NM_004656.4(BAP1):c.750G>A (p.Val250=) rs1270417244 0.00001
NM_004656.4(BAP1):c.754C>T (p.Arg252Cys) rs764891422 0.00001
NM_004656.4(BAP1):c.755G>A (p.Arg252His) rs759024400 0.00001
NM_004656.4(BAP1):c.779A>G (p.Gln260Arg) rs878854742 0.00001
NM_004656.4(BAP1):c.791G>C (p.Arg264Thr) rs978943999 0.00001
NM_004656.4(BAP1):c.801G>C (p.Gln267His) rs1553645511 0.00001
NM_004656.4(BAP1):c.806A>G (p.Glu269Gly) rs1187708513 0.00001
NM_004656.4(BAP1):c.832G>A (p.Glu278Lys) rs892726365 0.00001
NM_004656.4(BAP1):c.914C>T (p.Ser305Phe) rs1462186340 0.00001
NM_004656.4(BAP1):c.977A>G (p.His326Arg) rs1459459390 0.00001
NM_004656.4(BAP1):c.982C>G (p.Pro328Ala) rs760860535 0.00001
NM_004656.4(BAP1):c.998A>G (p.Lys333Arg) rs774251645 0.00001
NM_004656.4(BAP1):c.-1G>A
NM_004656.4(BAP1):c.-3A>G rs1553646425
NM_004656.4(BAP1):c.1000C>A (p.Leu334Ile) rs1705111035
NM_004656.4(BAP1):c.1018G>A (p.Gly340Ser) rs755950173
NM_004656.4(BAP1):c.1022G>A (p.Ser341Asn) rs2153227038
NM_004656.4(BAP1):c.1027C>G (p.Leu343Val) rs1060503734
NM_004656.4(BAP1):c.1028T>C (p.Leu343Pro) rs1311383282
NM_004656.4(BAP1):c.1034G>A (p.Gly345Glu) rs756779992
NM_004656.4(BAP1):c.1036G>A (p.Val346Ile) rs1705109194
NM_004656.4(BAP1):c.1037T>C (p.Val346Ala)
NM_004656.4(BAP1):c.1039C>G (p.His347Asp)
NM_004656.4(BAP1):c.103C>T (p.Leu35Phe)
NM_004656.4(BAP1):c.1041C>G (p.His347Gln) rs1553645289
NM_004656.4(BAP1):c.1042C>G (p.Pro348Ala) rs1250297448
NM_004656.4(BAP1):c.1042C>T (p.Pro348Ser) rs1250297448
NM_004656.4(BAP1):c.1047C>G (p.Asn349Lys) rs938452807
NM_004656.4(BAP1):c.1060G>A (p.Val354Ile) rs1174579740
NM_004656.4(BAP1):c.1069C>A (p.Leu357Met)
NM_004656.4(BAP1):c.1094A>G (p.Asn365Ser)
NM_004656.4(BAP1):c.1106C>A (p.Ser369Tyr) rs2153226993
NM_004656.4(BAP1):c.1108C>G (p.Pro370Ala)
NM_004656.4(BAP1):c.1114C>G (p.Gln372Glu)
NM_004656.4(BAP1):c.1116G>A (p.Gln372=) rs1559588330
NM_004656.4(BAP1):c.1117-5C>A rs771441619
NM_004656.4(BAP1):c.1117-5C>T rs771441619
NM_004656.4(BAP1):c.1135G>A (p.Ala379Thr)
NM_004656.4(BAP1):c.1138G>T (p.Gly380Cys) rs1221168827
NM_004656.4(BAP1):c.1139G>A (p.Gly380Asp) rs1559587902
NM_004656.4(BAP1):c.1139G>C (p.Gly380Ala)
NM_004656.4(BAP1):c.113A>G (p.Lys38Arg)
NM_004656.4(BAP1):c.1141G>A (p.Val381Met)
NM_004656.4(BAP1):c.1154G>C (p.Arg385Pro) rs765258055
NM_004656.4(BAP1):c.1168C>A (p.Pro390Thr) rs1425178905
NM_004656.4(BAP1):c.1171C>T (p.Pro391Ser) rs1705085681
NM_004656.4(BAP1):c.1172C>T (p.Pro391Leu) rs1705085614
NM_004656.4(BAP1):c.1184C>T (p.Ser395Leu)
NM_004656.4(BAP1):c.1188TGA[1] (p.Asp397del)
NM_004656.4(BAP1):c.1191T>A (p.Asp397Glu)
NM_004656.4(BAP1):c.1191T>G (p.Asp397Glu) rs1273468859
NM_004656.4(BAP1):c.1199A>G (p.Asp400Gly)
NM_004656.4(BAP1):c.1201_1203delinsGAG (p.Tyr401Glu) rs1553645128
NM_004656.4(BAP1):c.1202A>G (p.Tyr401Cys) rs1553645130
NM_004656.4(BAP1):c.1202A>T (p.Tyr401Phe) rs1553645130
NM_004656.4(BAP1):c.1209T>G (p.Asp403Glu)
NM_004656.4(BAP1):c.1214_1225del (p.Glu405_Asp408del) rs1553645109
NM_004656.4(BAP1):c.1215GGA[1] (p.Glu406del) rs768718216
NM_004656.4(BAP1):c.1218G>C (p.Glu406Asp)
NM_004656.4(BAP1):c.1224C>G (p.Asp408Glu) rs755110121
NM_004656.4(BAP1):c.122G>C (p.Gly41Ala) rs1553646278
NM_004656.4(BAP1):c.1233C>G (p.Asn411Lys)
NM_004656.4(BAP1):c.1234A>G (p.Thr412Ala) rs1705080758
NM_004656.4(BAP1):c.1235C>T (p.Thr412Ile) rs760363108
NM_004656.4(BAP1):c.1237A>G (p.Asn413Asp) rs1705080415
NM_004656.4(BAP1):c.1238A>G (p.Asn413Ser) rs1231899667
NM_004656.4(BAP1):c.1240T>A (p.Ser414Thr) rs1705080146
NM_004656.4(BAP1):c.1250+1G>A
NM_004656.4(BAP1):c.1250+3C>T
NM_004656.4(BAP1):c.1259G>T (p.Gly420Val)
NM_004656.4(BAP1):c.125C>T (p.Pro42Leu) rs1705241156
NM_004656.4(BAP1):c.1268C>G (p.Thr423Arg) rs115109161
NM_004656.4(BAP1):c.1271G>T (p.Gly424Val)
NM_004656.4(BAP1):c.1276C>T (p.Pro426Ser) rs771326820
NM_004656.4(BAP1):c.1279G>A (p.Gly427Arg) rs1553644999
NM_004656.4(BAP1):c.1280G>A (p.Gly427Glu) rs761183483
NM_004656.4(BAP1):c.1282G>A (p.Ala428Thr) rs371601284
NM_004656.4(BAP1):c.1282G>T (p.Ala428Ser) rs371601284
NM_004656.4(BAP1):c.1291G>T (p.Gly431Cys) rs915913191
NM_004656.4(BAP1):c.1292G>A (p.Gly431Asp)
NM_004656.4(BAP1):c.1297G>A (p.Ala433Thr) rs1553644988
NM_004656.4(BAP1):c.1301A>G (p.Asp434Gly)
NM_004656.4(BAP1):c.1303G>A (p.Gly435Arg)
NM_004656.4(BAP1):c.1304G>C (p.Gly435Ala)
NM_004656.4(BAP1):c.1306C>A (p.Gln436Lys) rs2153226757
NM_004656.4(BAP1):c.1308A>T (p.Gln436His)
NM_004656.4(BAP1):c.1309C>A (p.Leu437Met)
NM_004656.4(BAP1):c.1313C>T (p.Ser438Leu) rs1443225407
NM_004656.4(BAP1):c.1315G>T (p.Val439Leu) rs1559587112
NM_004656.4(BAP1):c.1319T>C (p.Leu440Pro) rs1553644982
NM_004656.4(BAP1):c.1336A>G (p.Asn446Asp) rs1361354120
NM_004656.4(BAP1):c.1337A>C (p.Asn446Thr) rs751399960
NM_004656.4(BAP1):c.1337A>T (p.Asn446Ile) rs751399960
NM_004656.4(BAP1):c.133G>A (p.Gly45Arg) rs1553646045
NM_004656.4(BAP1):c.1345G>T (p.Ala449Ser)
NM_004656.4(BAP1):c.1354C>G (p.Leu452Val) rs1273586744
NM_004656.4(BAP1):c.1357A>C (p.Lys453Gln)
NM_004656.4(BAP1):c.1379C>T (p.Ser460Leu) rs1553644949
NM_004656.4(BAP1):c.1388T>C (p.Leu463Pro)
NM_004656.4(BAP1):c.1390T>A (p.Ser464Thr)
NM_004656.4(BAP1):c.1396A>C (p.Lys466Gln)
NM_004656.4(BAP1):c.139A>G (p.Ile47Val)
NM_004656.4(BAP1):c.13T>C (p.Trp5Arg) rs1578231363
NM_004656.4(BAP1):c.1400C>G (p.Thr467Ser) rs1268207501
NM_004656.4(BAP1):c.1409G>C (p.Gly470Ala) rs1553644942
NM_004656.4(BAP1):c.1411G>C (p.Ala471Pro) rs946145283
NM_004656.4(BAP1):c.1411_1412delinsAT (p.Ala471Ile) rs1578220936
NM_004656.4(BAP1):c.1417A>T (p.Ser473Cys)
NM_004656.4(BAP1):c.1421C>G (p.Pro474Arg)
NM_004656.4(BAP1):c.1426G>A (p.Val476Met) rs1559586874
NM_004656.4(BAP1):c.1429_1434del (p.475AV[1])
NM_004656.4(BAP1):c.1432G>A (p.Val478Met) rs1559586864
NM_004656.4(BAP1):c.1439C>G (p.Thr480Arg) rs752302472
NM_004656.4(BAP1):c.1442A>T (p.His481Leu) rs150441842
NM_004656.4(BAP1):c.1445C>T (p.Ser482Leu) rs753329341
NM_004656.4(BAP1):c.1450C>T (p.Pro484Ser) rs1705050172
NM_004656.4(BAP1):c.1460C>T (p.Thr487Ile)
NM_004656.4(BAP1):c.1462C>T (p.Pro488Ser)
NM_004656.4(BAP1):c.1469A>G (p.Asn490Ser)
NM_004656.4(BAP1):c.1474A>T (p.Ser492Cys)
NM_004656.4(BAP1):c.1475G>T (p.Ser492Ile)
NM_004656.4(BAP1):c.1478C>G (p.Thr493Arg)
NM_004656.4(BAP1):c.1478C>T (p.Thr493Ile)
NM_004656.4(BAP1):c.1486G>T (p.Ala496Ser)
NM_004656.4(BAP1):c.1497C>G (p.Ile499Met) rs777417522
NM_004656.4(BAP1):c.1505C>T (p.Ala502Val)
NM_004656.4(BAP1):c.1507T>C (p.Phe503Leu) rs745959970
NM_004656.4(BAP1):c.1511A>G (p.Asn504Ser)
NM_004656.4(BAP1):c.1514C>T (p.Ser505Leu) rs1322319973
NM_004656.4(BAP1):c.1516C>T (p.Pro506Ser)
NM_004656.4(BAP1):c.1522C>T (p.Arg508Cys) rs951076425
NM_004656.4(BAP1):c.1526C>T (p.Ser509Leu) rs1705045724
NM_004656.4(BAP1):c.1531A>G (p.Ile511Val) rs1559586695
NM_004656.4(BAP1):c.1533C>G (p.Ile511Met)
NM_004656.4(BAP1):c.1535G>A (p.Arg512His) rs778596308
NM_004656.4(BAP1):c.1535G>T (p.Arg512Leu) rs778596308
NM_004656.4(BAP1):c.1537T>C (p.Ser513Pro) rs753373047
NM_004656.4(BAP1):c.1543A>C (p.Asn515His)
NM_004656.4(BAP1):c.1544A>C (p.Asn515Thr)
NM_004656.4(BAP1):c.1549A>G (p.Thr517Ala) rs1449536422
NM_004656.4(BAP1):c.154T>A (p.Trp52Arg)
NM_004656.4(BAP1):c.1550C>T (p.Thr517Met) rs764748646
NM_004656.4(BAP1):c.1558T>C (p.Ser520Pro)
NM_004656.4(BAP1):c.1564C>G (p.Pro522Ala)
NM_004656.4(BAP1):c.1570A>C (p.Thr524Pro)
NM_004656.4(BAP1):c.1576C>T (p.His526Tyr)
NM_004656.4(BAP1):c.1578C>A (p.His526Gln) rs1250224373
NM_004656.4(BAP1):c.1581C>G (p.Ile527Met)
NM_004656.4(BAP1):c.1585A>C (p.Lys529Gln)
NM_004656.4(BAP1):c.15G>T (p.Trp5Cys)
NM_004656.4(BAP1):c.1600G>A (p.Glu534Lys) rs1578220449
NM_004656.4(BAP1):c.1608C>A (p.Asp536Glu)
NM_004656.4(BAP1):c.160G>A (p.Glu54Lys) rs199564379
NM_004656.4(BAP1):c.1610G>A (p.Ser537Asn) rs1705041261
NM_004656.4(BAP1):c.1615C>G (p.Leu539Val)
NM_004656.4(BAP1):c.1616T>G (p.Leu539Arg) rs1553644856
NM_004656.4(BAP1):c.1618C>T (p.Arg540Cys) rs903346372
NM_004656.4(BAP1):c.1631T>A (p.Ile544Lys)
NM_004656.4(BAP1):c.163G>A (p.Glu55Lys)
NM_004656.4(BAP1):c.1642C>G (p.Arg548Gly) rs748853790
NM_004656.4(BAP1):c.1646C>T (p.Ala549Val) rs1553644842
NM_004656.4(BAP1):c.1651C>G (p.Arg551Gly) rs755664216
NM_004656.4(BAP1):c.1660G>A (p.Gly554Ser) rs1578220332
NM_004656.4(BAP1):c.1661G>C (p.Gly554Ala) rs1284389116
NM_004656.4(BAP1):c.1666G>A (p.Val556Ile)
NM_004656.4(BAP1):c.166C>T (p.Arg56Cys)
NM_004656.4(BAP1):c.1672A>G (p.Ser558Gly)
NM_004656.4(BAP1):c.1681C>G (p.Leu561Val) rs1553644818
NM_004656.4(BAP1):c.1687C>T (p.His563Tyr) rs1559586451
NM_004656.4(BAP1):c.1688A>C (p.His563Pro)
NM_004656.4(BAP1):c.1688A>G (p.His563Arg) rs1705037340
NM_004656.4(BAP1):c.1705G>A (p.Val569Met) rs2153226580
NM_004656.4(BAP1):c.1708C>A (p.Leu570Met)
NM_004656.4(BAP1):c.1709T>C (p.Leu570Pro) rs1705036379
NM_004656.4(BAP1):c.1714C>A (p.Pro572Thr) rs1553644803
NM_004656.4(BAP1):c.1715C>A (p.Pro572His) rs1553644798
NM_004656.4(BAP1):c.1715C>T (p.Pro572Leu) rs1553644798
NM_004656.4(BAP1):c.1721C>A (p.Ala574Glu) rs761596789
NM_004656.4(BAP1):c.1724T>G (p.Leu575Arg)
NM_004656.4(BAP1):c.1729+3G>A rs2153226566
NM_004656.4(BAP1):c.172T>C (p.Ser58Pro)
NM_004656.4(BAP1):c.172T>G (p.Ser58Ala)
NM_004656.4(BAP1):c.1731G>A (p.Glu577=) rs1705029620
NM_004656.4(BAP1):c.1732G>A (p.Gly578Ser) rs1559586163
NM_004656.4(BAP1):c.1736G>A (p.Gly579Glu)
NM_004656.4(BAP1):c.173C>A (p.Ser58Tyr)
NM_004656.4(BAP1):c.1741G>A (p.Gly581Ser) rs779252716
NM_004656.4(BAP1):c.1742G>A (p.Gly581Asp) rs1578219900
NM_004656.4(BAP1):c.1742G>C (p.Gly581Ala) rs1578219900
NM_004656.4(BAP1):c.1745C>T (p.Ser582Phe) rs1705028518
NM_004656.4(BAP1):c.1756A>C (p.Ile586Leu) rs1553644740
NM_004656.4(BAP1):c.175C>T (p.Arg59Trp) rs1404823823
NM_004656.4(BAP1):c.1760G>A (p.Arg587Lys)
NM_004656.4(BAP1):c.1762C>G (p.Pro588Ala)
NM_004656.4(BAP1):c.1763C>G (p.Pro588Arg) rs780338105
NM_004656.4(BAP1):c.1770A>T (p.Gln590His) rs1705027042
NM_004656.4(BAP1):c.1778A>G (p.Gln593Arg) rs1553644733
NM_004656.4(BAP1):c.1795G>A (p.Val599Met)
NM_004656.4(BAP1):c.17T>C (p.Leu6Pro) rs2153228689
NM_004656.4(BAP1):c.1802AGG[1] (p.Glu602del) rs2153226476
NM_004656.4(BAP1):c.1805A>G (p.Glu602Gly) rs144993791
NM_004656.4(BAP1):c.1807G>C (p.Val603Leu)
NM_004656.4(BAP1):c.1808T>C (p.Val603Ala) rs1578219733
NM_004656.4(BAP1):c.1816G>C (p.Ala606Pro)
NM_004656.4(BAP1):c.1840G>A (p.Gly614Arg) rs746271680
NM_004656.4(BAP1):c.1845G>A (p.Met615Ile)
NM_004656.4(BAP1):c.184G>T (p.Val62Phe) rs759957857
NM_004656.4(BAP1):c.1850G>A (p.Arg617Lys) rs751746876
NM_004656.4(BAP1):c.1852C>G (p.Pro618Ala) rs1060503728
NM_004656.4(BAP1):c.1852C>T (p.Pro618Ser)
NM_004656.4(BAP1):c.1853C>T (p.Pro618Leu)
NM_004656.4(BAP1):c.1857C>T (p.Gly619=) rs116604051
NM_004656.4(BAP1):c.1861C>A (p.Pro621Thr) rs866649101
NM_004656.4(BAP1):c.1868G>A (p.Ser623Asn) rs1207146972
NM_004656.4(BAP1):c.1873G>A (p.Glu625Lys) rs1482404545
NM_004656.4(BAP1):c.1877A>G (p.Lys626Arg)
NM_004656.4(BAP1):c.188C>G (p.Ser63Cys) rs747311942
NM_004656.4(BAP1):c.1890G>C (p.Lys630Asn)
NM_004656.4(BAP1):c.1891-1G>A rs1705011794
NM_004656.4(BAP1):c.1895T>C (p.Leu632Pro) rs1705011626
NM_004656.4(BAP1):c.1900G>A (p.Ala634Thr) rs1705011344
NM_004656.4(BAP1):c.1907T>C (p.Leu636Pro) rs1705011087
NM_004656.4(BAP1):c.1912T>C (p.Cys638Arg) rs1578219121
NM_004656.4(BAP1):c.1913G>A (p.Cys638Tyr)
NM_004656.4(BAP1):c.1913G>C (p.Cys638Ser)
NM_004656.4(BAP1):c.1916T>C (p.Val639Ala) rs1578219105
NM_004656.4(BAP1):c.1919A>G (p.Glu640Gly)
NM_004656.4(BAP1):c.1924G>A (p.Glu642Lys)
NM_004656.4(BAP1):c.1926G>C (p.Glu642Asp) rs1386810597
NM_004656.4(BAP1):c.1928T>C (p.Ile643Thr) rs376519545
NM_004656.4(BAP1):c.1930G>A (p.Ala644Thr)
NM_004656.4(BAP1):c.1937A>G (p.Tyr646Cys)
NM_004656.4(BAP1):c.1939G>C (p.Glu647Gln) rs1705009525
NM_004656.4(BAP1):c.1942G>A (p.Ala648Thr) rs1705009460
NM_004656.4(BAP1):c.1945T>C (p.Cys649Arg)
NM_004656.4(BAP1):c.1949T>C (p.Leu650Pro)
NM_004656.4(BAP1):c.1952A>G (p.Lys651Arg) rs1578219024
NM_004656.4(BAP1):c.1953G>C (p.Lys651Asn)
NM_004656.4(BAP1):c.1959G>C (p.Glu653Asp)
NM_004656.4(BAP1):c.1960G>A (p.Val654Ile)
NM_004656.4(BAP1):c.1961T>G (p.Val654Gly)
NM_004656.4(BAP1):c.196G>C (p.Val66Leu)
NM_004656.4(BAP1):c.1973A>G (p.Lys658Arg) rs372282516
NM_004656.4(BAP1):c.1976A>G (p.Lys659Arg)
NM_004656.4(BAP1):c.1991del (p.Asp664fs) rs2153226220
NM_004656.4(BAP1):c.1995G>C (p.Gln665His) rs1705000474
NM_004656.4(BAP1):c.2005C>T (p.His669Tyr) rs762288547
NM_004656.4(BAP1):c.2014G>C (p.Asp672His)
NM_004656.4(BAP1):c.2015A>G (p.Asp672Gly)
NM_004656.4(BAP1):c.2035A>G (p.Ile679Val) rs1578218674
NM_004656.4(BAP1):c.2056+3G>A rs2153226175
NM_004656.4(BAP1):c.2057-4G>A rs149499021
NM_004656.4(BAP1):c.2061G>C (p.Met687Ile) rs757553269
NM_004656.4(BAP1):c.2065G>C (p.Ala689Pro) rs1578218248
NM_004656.4(BAP1):c.2066C>T (p.Ala689Val)
NM_004656.4(BAP1):c.2069A>G (p.Asn690Ser) rs1704987226
NM_004656.4(BAP1):c.2070C>G (p.Asn690Lys)
NM_004656.4(BAP1):c.2092G>A (p.Val698Met)
NM_004656.4(BAP1):c.2095C>T (p.Arg699Trp)
NM_004656.4(BAP1):c.2096G>A (p.Arg699Gln) rs1466334306
NM_004656.4(BAP1):c.2096G>T (p.Arg699Leu)
NM_004656.4(BAP1):c.2110G>A (p.Val704Ile)
NM_004656.4(BAP1):c.2115C>G (p.Ser705Arg)
NM_004656.4(BAP1):c.211G>A (p.Val71Met) rs753629908
NM_004656.4(BAP1):c.2122C>T (p.Arg708Trp) rs1345279795
NM_004656.4(BAP1):c.2123G>A (p.Arg708Gln)
NM_004656.4(BAP1):c.212T>G (p.Val71Gly)
NM_004656.4(BAP1):c.2135A>C (p.Gln712Pro) rs2153226096
NM_004656.4(BAP1):c.2138G>A (p.Arg713Gln) rs1435755592
NM_004656.4(BAP1):c.2143C>A (p.Pro715Thr)
NM_004656.4(BAP1):c.2152C>T (p.Arg718Trp) rs1186981831
NM_004656.4(BAP1):c.2153G>A (p.Arg718Gln) rs1440748203
NM_004656.4(BAP1):c.2159G>A (p.Arg720His) rs776746400
NM_004656.4(BAP1):c.215T>C (p.Ile72Thr)
NM_004656.4(BAP1):c.2162C>G (p.Ser721Cys) rs1553644521
NM_004656.4(BAP1):c.2164C>G (p.Arg722Gly)
NM_004656.4(BAP1):c.2164C>T (p.Arg722Cys) rs771007826
NM_004656.4(BAP1):c.2171A>G (p.Tyr724Cys)
NM_004656.4(BAP1):c.2176G>A (p.Ala726Thr)
NM_004656.4(BAP1):c.2183G>T (p.Arg728Leu) rs773230722
NM_004656.4(BAP1):c.2186A>T (p.Gln729Leu)
NM_004656.4(BAP1):c.2188T>C (p.Ter730Arg)
NM_004656.4(BAP1):c.223G>A (p.Asp75Asn)
NM_004656.4(BAP1):c.233A>C (p.Asn78Thr) rs1319729011
NM_004656.4(BAP1):c.240G>T (p.Met80Ile) rs755878197
NM_004656.4(BAP1):c.248C>A (p.Ala83Asp)
NM_004656.4(BAP1):c.255G>A (p.Gln85=)
NM_004656.4(BAP1):c.256-3C>T rs752536342
NM_004656.4(BAP1):c.257T>C (p.Leu86Pro)
NM_004656.4(BAP1):c.262C>G (p.Pro88Ala) rs1304265975
NM_004656.4(BAP1):c.263C>T (p.Pro88Leu)
NM_004656.4(BAP1):c.269C>T (p.Ser90Phe)
NM_004656.4(BAP1):c.271T>G (p.Cys91Gly) rs1705222655
NM_004656.4(BAP1):c.277A>G (p.Thr93Ala) rs375129361
NM_004656.4(BAP1):c.278C>T (p.Thr93Ile)
NM_004656.4(BAP1):c.281A>G (p.His94Arg) rs1553645950
NM_004656.4(BAP1):c.302T>C (p.Leu101Pro)
NM_004656.4(BAP1):c.314G>C (p.Ser105Thr)
NM_004656.4(BAP1):c.315C>G (p.Ser105Arg) rs576176888
NM_004656.4(BAP1):c.316G>T (p.Val106Leu) rs754385495
NM_004656.4(BAP1):c.31G>C (p.Asp11His) rs1578231322
NM_004656.4(BAP1):c.326G>T (p.Gly109Val) rs1553645939
NM_004656.4(BAP1):c.328C>G (p.Pro110Ala)
NM_004656.4(BAP1):c.337A>C (p.Ser113Arg) rs1553645933
NM_004656.4(BAP1):c.338G>A (p.Ser113Asn) rs1705220109
NM_004656.4(BAP1):c.338G>C (p.Ser113Thr) rs1705220109
NM_004656.4(BAP1):c.344T>C (p.Met115Thr)
NM_004656.4(BAP1):c.347A>C (p.Lys116Thr) rs1705219656
NM_004656.4(BAP1):c.349G>A (p.Asp117Asn)
NM_004656.4(BAP1):c.367A>G (p.Ser123Gly)
NM_004656.4(BAP1):c.367A>T (p.Ser123Cys) rs1578227417
NM_004656.4(BAP1):c.37+3G>A rs373910684
NM_004656.4(BAP1):c.375+5G>C rs1578227385
NM_004656.4(BAP1):c.376-4G>T
NM_004656.4(BAP1):c.37G>A (p.Gly13Ser)
NM_004656.4(BAP1):c.38-1G>C
NM_004656.4(BAP1):c.38-2A>G rs2153228637
NM_004656.4(BAP1):c.383G>A (p.Gly128Glu) rs1559590768
NM_004656.4(BAP1):c.385T>C (p.Tyr129His) rs1705203099
NM_004656.4(BAP1):c.389C>T (p.Ala130Val) rs1559590761
NM_004656.4(BAP1):c.38G>A (p.Gly13Asp)
NM_004656.4(BAP1):c.392T>A (p.Ile131Asn) rs1559590753
NM_004656.4(BAP1):c.401C>T (p.Ala134Val) rs1578226823
NM_004656.4(BAP1):c.407A>C (p.Glu136Ala)
NM_004656.4(BAP1):c.40C>G (p.Leu14Val)
NM_004656.4(BAP1):c.412G>A (p.Ala138Thr)
NM_004656.4(BAP1):c.419C>T (p.Ala140Val) rs1578226781
NM_004656.4(BAP1):c.421C>T (p.His141Tyr)
NM_004656.4(BAP1):c.422A>G (p.His141Arg) rs1705201896
NM_004656.4(BAP1):c.437+3G>A
NM_004656.4(BAP1):c.437+3del rs757063339
NM_004656.4(BAP1):c.438-5C>A
NM_004656.4(BAP1):c.448C>T (p.Arg150Cys) rs548946316
NM_004656.4(BAP1):c.451C>T (p.His151Tyr) rs1705197376
NM_004656.4(BAP1):c.454C>G (p.Leu152Val) rs887658889
NM_004656.4(BAP1):c.454C>T (p.Leu152Phe) rs887658889
NM_004656.4(BAP1):c.457C>A (p.Pro153Thr)
NM_004656.4(BAP1):c.457C>T (p.Pro153Ser)
NM_004656.4(BAP1):c.464A>G (p.Lys155Arg) rs1578226495
NM_004656.4(BAP1):c.470A>G (p.Asn157Ser)
NM_004656.4(BAP1):c.475C>T (p.Leu159Phe) rs1559590603
NM_004656.4(BAP1):c.488G>A (p.Arg163Gln) rs1268089896
NM_004656.4(BAP1):c.490A>G (p.Thr164Ala) rs748856655
NM_004656.4(BAP1):c.499G>A (p.Ala167Thr)
NM_004656.4(BAP1):c.500C>A (p.Ala167Glu)
NM_004656.4(BAP1):c.518A>G (p.Tyr173Cys)
NM_004656.4(BAP1):c.524C>T (p.Pro175Leu) rs1705195086
NM_004656.4(BAP1):c.529A>G (p.Thr177Ala) rs1705194837
NM_004656.4(BAP1):c.533G>A (p.Gly178Asp)
NM_004656.4(BAP1):c.539T>A (p.Leu180His)
NM_004656.4(BAP1):c.541T>C (p.Phe181Leu)
NM_004656.4(BAP1):c.544G>A (p.Glu182Lys) rs1060503726
NM_004656.4(BAP1):c.55G>C (p.Val19Leu) rs745359087
NM_004656.4(BAP1):c.562G>T (p.Val188Phe)
NM_004656.4(BAP1):c.566A>G (p.Tyr189Cys) rs1578226365
NM_004656.4(BAP1):c.569C>T (p.Pro190Leu) rs1578226360
NM_004656.4(BAP1):c.571A>C (p.Ile191Leu) rs758802692
NM_004656.4(BAP1):c.577C>T (p.His193Tyr)
NM_004656.4(BAP1):c.578A>G (p.His193Arg) rs1553645788
NM_004656.4(BAP1):c.580+5G>A
NM_004656.4(BAP1):c.587G>T (p.Trp196Leu)
NM_004656.4(BAP1):c.588G>T (p.Trp196Cys) rs1193212091
NM_004656.4(BAP1):c.589G>A (p.Gly197Arg) rs1060503739
NM_004656.4(BAP1):c.595G>A (p.Asp199Asn)
NM_004656.4(BAP1):c.599A>C (p.Glu200Ala)
NM_004656.4(BAP1):c.5A>G (p.Asn2Ser) rs2153228692
NM_004656.4(BAP1):c.601G>C (p.Glu201Gln) rs1578225887
NM_004656.4(BAP1):c.612C>G (p.Asp204Glu)
NM_004656.4(BAP1):c.619C>G (p.Arg207Gly)
NM_004656.4(BAP1):c.620G>A (p.Arg207Gln) rs1277247682
NM_004656.4(BAP1):c.622C>T (p.Arg208Trp) rs1705177686
NM_004656.4(BAP1):c.623G>A (p.Arg208Gln) rs867416499
NM_004656.4(BAP1):c.626T>C (p.Val209Ala) rs878854740
NM_004656.4(BAP1):c.631A>T (p.Met211Leu) rs1578225825
NM_004656.4(BAP1):c.637C>T (p.Arg213Cys)
NM_004656.4(BAP1):c.638G>A (p.Arg213His) rs1220529268
NM_004656.4(BAP1):c.643G>A (p.Gly215Ser) rs1407261660
NM_004656.4(BAP1):c.64T>A (p.Phe22Ile)
NM_004656.4(BAP1):c.652A>G (p.Thr218Ala)
NM_004656.4(BAP1):c.655G>A (p.Ala219Thr)
NM_004656.4(BAP1):c.660-4G>A rs1360711033
NM_004656.4(BAP1):c.660-4G>T
NM_004656.4(BAP1):c.664C>T (p.Pro222Ser)
NM_004656.4(BAP1):c.670_672del (p.His224del) rs1337893429
NM_004656.4(BAP1):c.679C>T (p.Arg227Cys) rs1705157962
NM_004656.4(BAP1):c.67G>A (p.Gly23Ser) rs1578230869
NM_004656.4(BAP1):c.68-4G>A rs1559592875
NM_004656.4(BAP1):c.6T>A (p.Asn2Lys)
NM_004656.4(BAP1):c.701T>C (p.Val234Ala)
NM_004656.4(BAP1):c.706G>A (p.Asp236Asn) rs1559589762
NM_004656.4(BAP1):c.709C>G (p.Arg237Gly)
NM_004656.4(BAP1):c.709C>T (p.Arg237Cys) rs1705157079
NM_004656.4(BAP1):c.710G>A (p.Arg237His) rs751298953
NM_004656.4(BAP1):c.713G>A (p.Arg238Lys) rs1578225161
NM_004656.4(BAP1):c.714G>C (p.Arg238Ser) rs1340520481
NM_004656.4(BAP1):c.732G>C (p.Arg244Ser) rs1578225108
NM_004656.4(BAP1):c.736C>G (p.His246Asp) rs999764581
NM_004656.4(BAP1):c.739G>A (p.Val247Met) rs1197753868
NM_004656.4(BAP1):c.743T>G (p.Leu248Arg)
NM_004656.4(BAP1):c.747G>T (p.Lys249Asn) rs1553645603
NM_004656.4(BAP1):c.758A>G (p.Gln253Arg)
NM_004656.4(BAP1):c.772G>A (p.Ala258Thr) rs1559589668
NM_004656.4(BAP1):c.775C>G (p.Leu259Val) rs1559589659
NM_004656.4(BAP1):c.77G>C (p.Gly26Ala)
NM_004656.4(BAP1):c.783+4_783+13del rs876661262
NM_004656.4(BAP1):c.783+5G>A
NM_004656.4(BAP1):c.785T>C (p.Leu262Pro)
NM_004656.4(BAP1):c.787A>C (p.Ile263Leu) rs370841382
NM_004656.4(BAP1):c.79G>A (p.Val27Met)
NM_004656.4(BAP1):c.808C>G (p.Leu270Val) rs1705141434
NM_004656.4(BAP1):c.809T>C (p.Leu270Pro) rs1020385611
NM_004656.4(BAP1):c.820C>T (p.His274Tyr)
NM_004656.4(BAP1):c.821A>C (p.His274Pro) rs565400314
NM_004656.4(BAP1):c.821A>G (p.His274Arg)
NM_004656.4(BAP1):c.822C>G (p.His274Gln) rs1553645500
NM_004656.4(BAP1):c.825G>C (p.Lys275Asn)
NM_004656.4(BAP1):c.829C>G (p.Gln277Glu)
NM_004656.4(BAP1):c.836C>T (p.Ser279Leu) rs1553645494
NM_004656.4(BAP1):c.845C>T (p.Pro282Leu) rs1204584108
NM_004656.4(BAP1):c.847G>A (p.Glu283Lys)
NM_004656.4(BAP1):c.850G>A (p.Glu284Lys) rs1553645487
NM_004656.4(BAP1):c.851A>G (p.Glu284Gly)
NM_004656.4(BAP1):c.857A>G (p.Lys286Arg)
NM_004656.4(BAP1):c.863C>A (p.Ala288Asp)
NM_004656.4(BAP1):c.863C>G (p.Ala288Gly) rs545587662
NM_004656.4(BAP1):c.872A>C (p.Lys291Thr)
NM_004656.4(BAP1):c.875C>G (p.Ser292Cys) rs1553645470
NM_004656.4(BAP1):c.889G>C (p.Glu297Gln) rs1578224345
NM_004656.4(BAP1):c.890A>C (p.Glu297Ala)
NM_004656.4(BAP1):c.895A>C (p.Asn299His)
NM_004656.4(BAP1):c.899G>A (p.Arg300Lys) rs2153227223
NM_004656.4(BAP1):c.904C>G (p.Pro302Ala) rs1172088152
NM_004656.4(BAP1):c.907G>A (p.Ala303Thr) rs754740693
NM_004656.4(BAP1):c.910_911delinsAA (p.Ala304Asn) rs1553645448
NM_004656.4(BAP1):c.932-2A>G
NM_004656.4(BAP1):c.934G>A (p.Gly312Ser) rs1705114996
NM_004656.4(BAP1):c.934G>C (p.Gly312Arg) rs1705114996
NM_004656.4(BAP1):c.935G>T (p.Gly312Val) rs1705114923
NM_004656.4(BAP1):c.937G>A (p.Ala313Thr) rs1578223547
NM_004656.4(BAP1):c.947C>A (p.Ala316Glu)
NM_004656.4(BAP1):c.950C>A (p.Ala317Asp)
NM_004656.4(BAP1):c.958T>C (p.Cys320Arg) rs1158601931
NM_004656.4(BAP1):c.959G>A (p.Cys320Tyr) rs1705113756
NM_004656.4(BAP1):c.961G>T (p.Ala321Ser) rs143891879
NM_004656.4(BAP1):c.967G>A (p.Ala323Thr) rs1559588616
NM_004656.4(BAP1):c.982C>T (p.Pro328Ser)
NM_004656.4(BAP1):c.983C>T (p.Pro328Leu) rs1578223418
NM_004656.4(BAP1):c.988A>G (p.Asn330Asp) rs2153227061
NM_004656.4(BAP1):c.98A>G (p.Tyr33Cys)
NM_004656.4(BAP1):c.990C>G (p.Asn330Lys) rs773432365
NM_004656.4(BAP1):c.998A>T (p.Lys333Met) rs774251645

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