ClinVar Miner

List of variants in gene CBL reported as uncertain significance for RASopathy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 543
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HGVS dbSNP gnomAD frequency
NM_005188.4(CBL):c.2262T>G (p.Asn754Lys) rs148139669 0.00006
NM_005188.4(CBL):c.2461G>A (p.Glu821Lys) rs759358775 0.00006
NM_005188.4(CBL):c.1095+3G>A rs373738394 0.00005
NM_005188.4(CBL):c.2520T>G (p.Cys840Trp) rs112330156 0.00005
NM_005188.4(CBL):c.1360A>G (p.Asn454Asp) rs371850672 0.00004
NM_005188.4(CBL):c.1511C>T (p.Pro504Leu) rs533554769 0.00004
NM_005188.4(CBL):c.1648C>T (p.Arg550Trp) rs202065722 0.00004
NM_005188.4(CBL):c.195+3G>A rs762062705 0.00004
NM_005188.4(CBL):c.2486G>A (p.Arg829Gln) rs374672276 0.00004
NM_005188.4(CBL):c.2614C>A (p.Gln872Lys) rs746795014 0.00004
NM_005188.4(CBL):c.2677C>T (p.Arg893Trp) rs368138875 0.00004
NM_005188.4(CBL):c.1484C>T (p.Pro495Leu) rs373989524 0.00003
NM_005188.4(CBL):c.1676G>T (p.Arg559Leu) rs143034856 0.00003
NM_005188.4(CBL):c.1703C>T (p.Thr568Ile) rs762016318 0.00003
NM_005188.4(CBL):c.1211G>A (p.Cys404Tyr) rs192712314 0.00002
NM_005188.4(CBL):c.1394A>T (p.Asp465Val) rs770644035 0.00002
NM_005188.4(CBL):c.1463C>T (p.Ala488Val) rs377502790 0.00002
NM_005188.4(CBL):c.1468C>G (p.Gln490Glu) rs1368426444 0.00002
NM_005188.4(CBL):c.1651C>T (p.Pro551Ser) rs200305176 0.00002
NM_005188.4(CBL):c.1783A>G (p.Ile595Val) rs775675805 0.00002
NM_005188.4(CBL):c.2153G>A (p.Arg718Gln) rs144894769 0.00002
NM_005188.4(CBL):c.2189C>T (p.Thr730Met) rs376848406 0.00002
NM_005188.4(CBL):c.2287G>A (p.Gly763Ser) rs1454216416 0.00002
NM_005188.4(CBL):c.2350G>A (p.Val784Met) rs140725852 0.00002
NM_005188.4(CBL):c.2485C>T (p.Arg829Trp) rs761245258 0.00002
NM_005188.4(CBL):c.2678G>A (p.Arg893Gln) rs751198294 0.00002
NM_005188.4(CBL):c.286C>T (p.Arg96Cys) rs147438359 0.00002
NM_005188.4(CBL):c.446G>A (p.Arg149Gln) rs199739868 0.00002
NM_005188.4(CBL):c.560C>T (p.Ala187Val) rs587778162 0.00002
NM_005188.4(CBL):c.664A>C (p.Met222Leu) rs773611782 0.00002
NM_005188.4(CBL):c.698A>G (p.Asn233Ser) rs143276937 0.00002
NM_005188.4(CBL):c.838C>T (p.Arg280Trp) rs730880432 0.00002
NM_005188.4(CBL):c.1027C>T (p.Arg343Ter) rs765471101 0.00001
NM_005188.4(CBL):c.1028G>A (p.Arg343Gln) rs759585425 0.00001
NM_005188.4(CBL):c.1074A>G (p.Gln358=) rs1060500678 0.00001
NM_005188.4(CBL):c.1094A>G (p.Gln365Arg) rs756742202 0.00001
NM_005188.4(CBL):c.1217C>T (p.Thr406Ile) rs757834577 0.00001
NM_005188.4(CBL):c.1227+5G>A rs756550704 0.00001
NM_005188.4(CBL):c.1240C>G (p.Gln414Glu) rs1268484791 0.00001
NM_005188.4(CBL):c.1277C>T (p.Thr426Ile) rs769547118 0.00001
NM_005188.4(CBL):c.1282C>T (p.Pro428Ser) rs762677807 0.00001
NM_005188.4(CBL):c.1288G>A (p.Val430Met) rs991981291 0.00001
NM_005188.4(CBL):c.1298C>T (p.Pro433Leu) rs140627020 0.00001
NM_005188.4(CBL):c.1324C>A (p.Leu442Met) rs200508558 0.00001
NM_005188.4(CBL):c.1364A>G (p.Tyr455Cys) rs1565872426 0.00001
NM_005188.4(CBL):c.1399C>G (p.Leu467Val) rs771673435 0.00001
NM_005188.4(CBL):c.1424G>T (p.Gly475Val) rs200054267 0.00001
NM_005188.4(CBL):c.1460T>C (p.Met487Thr) rs995860476 0.00001
NM_005188.4(CBL):c.1517G>T (p.Arg506Leu) rs746728465 0.00001
NM_005188.4(CBL):c.1529C>G (p.Pro510Arg) rs776055321 0.00001
NM_005188.4(CBL):c.1534A>G (p.Ser512Gly) rs1427688105 0.00001
NM_005188.4(CBL):c.1558T>C (p.Ser520Pro) rs371686364 0.00001
NM_005188.4(CBL):c.1622A>T (p.Asp541Val) rs147285276 0.00001
NM_005188.4(CBL):c.1637C>T (p.Pro546Leu) rs751274314 0.00001
NM_005188.4(CBL):c.1649G>A (p.Arg550Gln) rs1949973841 0.00001
NM_005188.4(CBL):c.1687C>T (p.Arg563Cys) rs768837912 0.00001
NM_005188.4(CBL):c.1688G>A (p.Arg563His) rs1423287961 0.00001
NM_005188.4(CBL):c.1694T>C (p.Leu565Ser) rs1174693367 0.00001
NM_005188.4(CBL):c.1735C>T (p.Pro579Ser) rs752260506 0.00001
NM_005188.4(CBL):c.1786C>T (p.Pro596Ser) rs1304284873 0.00001
NM_005188.4(CBL):c.1804G>T (p.Ala602Ser) rs1365230067 0.00001
NM_005188.4(CBL):c.1822C>A (p.Pro608Thr) rs763666786 0.00001
NM_005188.4(CBL):c.1849C>T (p.Arg617Trp) rs538013681 0.00001
NM_005188.4(CBL):c.1891A>G (p.Arg631Gly) rs552590011 0.00001
NM_005188.4(CBL):c.1997C>T (p.Pro666Leu) rs1461378431 0.00001
NM_005188.4(CBL):c.2012A>G (p.Asn671Ser) rs760168148 0.00001
NM_005188.4(CBL):c.202C>T (p.Arg68Trp) rs730880429 0.00001
NM_005188.4(CBL):c.2044C>G (p.Pro682Ala) rs764430929 0.00001
NM_005188.4(CBL):c.2053A>G (p.Lys685Glu) rs1555027603 0.00001
NM_005188.4(CBL):c.2062C>T (p.Pro688Ser) rs730880428 0.00001
NM_005188.4(CBL):c.2108C>T (p.Pro703Leu) rs368798262 0.00001
NM_005188.4(CBL):c.2125C>T (p.Arg709Trp) rs587778155 0.00001
NM_005188.4(CBL):c.2155G>A (p.Ala719Thr) rs757126995 0.00001
NM_005188.4(CBL):c.2227T>C (p.Ser743Pro) rs759665371 0.00001
NM_005188.4(CBL):c.2230A>G (p.Ile744Val) rs1422371091 0.00001
NM_005188.4(CBL):c.227C>T (p.Ala76Val) rs757898729 0.00001
NM_005188.4(CBL):c.2308G>A (p.Glu770Lys) rs749595774 0.00001
NM_005188.4(CBL):c.2318G>A (p.Gly773Glu) rs1241925405 0.00001
NM_005188.4(CBL):c.2339C>T (p.Pro780Leu) rs1401610037 0.00001
NM_005188.4(CBL):c.2366C>T (p.Thr789Ile) rs757530036 0.00001
NM_005188.4(CBL):c.2389A>C (p.Ser797Arg) rs138151048 0.00001
NM_005188.4(CBL):c.2390G>C (p.Ser797Thr) rs747073805 0.00001
NM_005188.4(CBL):c.2393C>T (p.Ser798Phe) rs587778158 0.00001
NM_005188.4(CBL):c.2401G>T (p.Gly801Cys) rs1465141746 0.00001
NM_005188.4(CBL):c.2414_2416dup (p.Leu805_Asp806insVal) rs777761446 0.00001
NM_005188.4(CBL):c.2432C>T (p.Thr811Ile) rs749068285 0.00001
NM_005188.4(CBL):c.2433A>G (p.Thr811=) rs200566020 0.00001
NM_005188.4(CBL):c.2458C>G (p.Pro820Ala) rs1356499832 0.00001
NM_005188.4(CBL):c.2503C>T (p.Arg835Trp) rs368696716 0.00001
NM_005188.4(CBL):c.2515A>G (p.Ser839Gly) rs748936051 0.00001
NM_005188.4(CBL):c.2530A>C (p.Ser844Arg) rs587778159 0.00001
NM_005188.4(CBL):c.2533G>A (p.Gly845Ser) rs997859448 0.00001
NM_005188.4(CBL):c.2537C>T (p.Pro846Leu) rs771831548 0.00001
NM_005188.4(CBL):c.2557G>A (p.Ala853Thr) rs1393832618 0.00001
NM_005188.4(CBL):c.2584G>A (p.Glu862Lys) rs397507498 0.00001
NM_005188.4(CBL):c.2612A>G (p.Tyr871Cys) rs1237783221 0.00001
NM_005188.4(CBL):c.2656G>A (p.Glu886Lys) rs1435757249 0.00001
NM_005188.4(CBL):c.2692A>G (p.Ile898Val) rs397507499 0.00001
NM_005188.4(CBL):c.271A>G (p.Thr91Ala) rs587778160 0.00001
NM_005188.4(CBL):c.292A>G (p.Ile98Val) rs1415440583 0.00001
NM_005188.4(CBL):c.469A>G (p.Ile157Val) rs730880430 0.00001
NM_005188.4(CBL):c.511A>G (p.Ser171Gly) rs1358074406 0.00001
NM_005188.4(CBL):c.572G>C (p.Arg191Thr) rs756736832 0.00001
NM_005188.4(CBL):c.578C>T (p.Ala193Val) rs749633193 0.00001
NM_005188.4(CBL):c.611G>C (p.Ser204Thr) rs759082853 0.00001
NM_005188.4(CBL):c.625C>G (p.Leu209Val) rs767162260 0.00001
NM_005188.4(CBL):c.691A>G (p.Thr231Ala) rs1457872297 0.00001
NM_005188.4(CBL):c.755C>G (p.Ser252Cys) rs1477764968 0.00001
NM_005188.4(CBL):c.805A>G (p.Met269Val) rs372452974 0.00001
NM_005188.4(CBL):c.826G>A (p.Glu276Lys) rs755244263 0.00001
NM_005188.4(CBL):c.829G>T (p.Val277Leu) rs1439017220 0.00001
NM_005188.4(CBL):c.839G>A (p.Arg280Gln) rs145155035 0.00001
NC_000011.9:g.(?_119077128)_(119077342_?)del
NC_000011.9:g.(?_119077128)_(119077342_?)dup
NC_000011.9:g.(?_119077128)_(119142611_?)dup
NC_000011.9:g.(?_119077128)_(119170491_?)del
NC_000011.9:g.(?_119103138)_(119158676_?)del
NC_000011.9:g.(?_119144558)_(119156296_?)del
NC_000011.9:g.(?_119167608)_(119170491_?)dup
NM_005188.4(CBL):c.1027C>G (p.Arg343Gly)
NM_005188.4(CBL):c.1033C>G (p.Gln345Glu) rs202095002
NM_005188.4(CBL):c.1039C>T (p.Pro347Ser)
NM_005188.4(CBL):c.1043A>G (p.Asp348Gly) rs1592400595
NM_005188.4(CBL):c.1049C>T (p.Thr350Ile)
NM_005188.4(CBL):c.1081A>G (p.Ile361Val)
NM_005188.4(CBL):c.1082T>C (p.Ile361Thr)
NM_005188.4(CBL):c.1088T>C (p.Val363Ala) rs1592400621
NM_005188.4(CBL):c.1088T>G (p.Val363Gly) rs1592400621
NM_005188.4(CBL):c.1091C>T (p.Thr364Ile) rs2135303015
NM_005188.4(CBL):c.1095+18_1095+19delinsGT rs2135303045
NM_005188.4(CBL):c.1096-26_1099inv
NM_005188.4(CBL):c.1096-7A>G rs1057517968
NM_005188.4(CBL):c.1097A>G (p.Glu366Gly)
NM_005188.4(CBL):c.1107_1118del (p.Leu370_Glu373del)
NM_005188.4(CBL):c.1110A>C (p.Leu370Phe)
NM_005188.4(CBL):c.1119G>T (p.Glu373Asp) rs571152174
NM_005188.4(CBL):c.1120A>T (p.Met374Leu)
NM_005188.4(CBL):c.1126T>C (p.Ser376Pro)
NM_005188.4(CBL):c.1129del (p.Thr377fs)
NM_005188.4(CBL):c.1132_1137del (p.Phe378_Gln379del) rs2135303632
NM_005188.4(CBL):c.1137A>C (p.Gln379His) rs757933118
NM_005188.4(CBL):c.1141T>C (p.Cys381Arg) rs757874631
NM_005188.4(CBL):c.1142G>A (p.Cys381Tyr)
NM_005188.4(CBL):c.1144A>G (p.Lys382Glu) rs267606705
NM_005188.4(CBL):c.1145A>G (p.Lys382Arg)
NM_005188.4(CBL):c.1147A>C (p.Ile383Leu)
NM_005188.4(CBL):c.1148T>C (p.Ile383Thr)
NM_005188.4(CBL):c.1149A>G (p.Ile383Met) rs2135303712
NM_005188.4(CBL):c.1150T>C (p.Cys384Arg) rs387906664
NM_005188.4(CBL):c.1150T>G (p.Cys384Gly) rs387906664
NM_005188.4(CBL):c.1151G>A (p.Cys384Tyr)
NM_005188.4(CBL):c.1153G>A (p.Ala385Thr)
NM_005188.4(CBL):c.1163A>G (p.Asp388Gly) rs2135303762
NM_005188.4(CBL):c.1165A>G (p.Lys389Glu) rs1060500676
NM_005188.4(CBL):c.1167G>C (p.Lys389Asn)
NM_005188.4(CBL):c.1167G>T (p.Lys389Asn) rs773598122
NM_005188.4(CBL):c.1169A>T (p.Asp390Val) rs763058208
NM_005188.4(CBL):c.1175A>T (p.Lys392Met) rs2135303785
NM_005188.4(CBL):c.1183C>T (p.Pro395Ser)
NM_005188.4(CBL):c.1186T>C (p.Cys396Arg) rs387906665
NM_005188.4(CBL):c.1187G>A (p.Cys396Tyr) rs1949905062
NM_005188.4(CBL):c.1196T>A (p.Leu399His)
NM_005188.4(CBL):c.1196T>C (p.Leu399Pro)
NM_005188.4(CBL):c.1198A>C (p.Met400Leu)
NM_005188.4(CBL):c.1198A>G (p.Met400Val)
NM_005188.4(CBL):c.1198A>T (p.Met400Leu)
NM_005188.4(CBL):c.1199T>C (p.Met400Thr) rs397507491
NM_005188.4(CBL):c.1201T>C (p.Cys401Arg) rs397507492
NM_005188.4(CBL):c.1202G>T (p.Cys401Phe) rs1357686410
NM_005188.4(CBL):c.1210T>A (p.Cys404Ser) rs1949905314
NM_005188.4(CBL):c.1210T>C (p.Cys404Arg) rs1949905314
NM_005188.4(CBL):c.1219T>C (p.Ser407Pro)
NM_005188.4(CBL):c.1220C>A (p.Ser407Tyr) rs2135303902
NM_005188.4(CBL):c.1220C>T (p.Ser407Phe)
NM_005188.4(CBL):c.1227+2T>C
NM_005188.4(CBL):c.1227+5G>C
NM_005188.4(CBL):c.1231_1236del (p.Ser411_Glu412del) rs2135304373
NM_005188.4(CBL):c.1237G>A (p.Gly413Ser) rs371679886
NM_005188.4(CBL):c.1238G>A (p.Gly413Asp) rs2135304402
NM_005188.4(CBL):c.1243G>A (p.Gly415Ser) rs756530482
NM_005188.4(CBL):c.1246T>A (p.Cys416Ser) rs1949907918
NM_005188.4(CBL):c.1246T>C (p.Cys416Arg)
NM_005188.4(CBL):c.1247G>A (p.Cys416Tyr)
NM_005188.4(CBL):c.1247G>C (p.Cys416Ser) rs757456261
NM_005188.4(CBL):c.1250C>G (p.Pro417Arg)
NM_005188.4(CBL):c.1253T>C (p.Phe418Ser) rs772156285
NM_005188.4(CBL):c.1254C>G (p.Phe418Leu)
NM_005188.4(CBL):c.1256G>A (p.Cys419Tyr)
NM_005188.4(CBL):c.1258C>G (p.Arg420Gly)
NM_005188.4(CBL):c.1259G>C (p.Arg420Pro)
NM_005188.4(CBL):c.1259G>T (p.Arg420Leu) rs267606708
NM_005188.4(CBL):c.1263T>G (p.Cys421Trp) rs1592401139
NM_005188.4(CBL):c.1274G>A (p.Gly425Asp) rs1949908282
NM_005188.4(CBL):c.1286T>A (p.Ile429Asn)
NM_005188.4(CBL):c.1298C>A (p.Pro433Gln) rs140627020
NM_005188.4(CBL):c.1306C>T (p.Pro436Ser)
NM_005188.4(CBL):c.1319G>T (p.Gly440Val) rs757570929
NM_005188.4(CBL):c.1321A>C (p.Ser441Arg)
NM_005188.4(CBL):c.1322G>T (p.Ser441Ile)
NM_005188.4(CBL):c.1346del (p.Gly449fs) rs1592401235
NM_005188.4(CBL):c.1349C>T (p.Ala450Val)
NM_005188.4(CBL):c.1351C>G (p.Pro451Ala) rs886041313
NM_005188.4(CBL):c.1361A>G (p.Asn454Ser) rs2135304767
NM_005188.4(CBL):c.1363T>G (p.Tyr455Asp)
NM_005188.4(CBL):c.1365TGA[3] (p.Asp458_Asp460del)
NM_005188.4(CBL):c.1365TGA[5] (p.Asp460del) rs397507494
NM_005188.4(CBL):c.1384C>T (p.Arg462Ter) rs886041425
NM_005188.4(CBL):c.1385G>A (p.Arg462Gln)
NM_005188.4(CBL):c.1393G>A (p.Asp465Asn) rs2135304845
NM_005188.4(CBL):c.1400T>C (p.Leu467Pro) rs1385198964
NM_005188.4(CBL):c.1401_1402del (p.Phe468fs) rs2135304862
NM_005188.4(CBL):c.1406T>C (p.Met469Thr)
NM_005188.4(CBL):c.1431+6A>G
NM_005188.4(CBL):c.1435G>T (p.Glu479Ter)
NM_005188.4(CBL):c.1436A>T (p.Glu479Val)
NM_005188.4(CBL):c.1442C>T (p.Pro481Leu)
NM_005188.4(CBL):c.1457C>T (p.Ser486Phe)
NM_005188.4(CBL):c.1463C>A (p.Ala488Asp)
NM_005188.4(CBL):c.1466dup (p.Gln490fs)
NM_005188.4(CBL):c.1471G>A (p.Ala491Thr)
NM_005188.4(CBL):c.1480C>G (p.Pro494Ala)
NM_005188.4(CBL):c.1484C>A (p.Pro495Gln)
NM_005188.4(CBL):c.1484del (p.Pro495fs) rs2135310015
NM_005188.4(CBL):c.1496G>A (p.Arg499Gln) rs1949969900
NM_005188.4(CBL):c.1499T>C (p.Leu500Pro)
NM_005188.4(CBL):c.1504C>T (p.Leu502Phe)
NM_005188.4(CBL):c.1517G>A (p.Arg506Gln)
NM_005188.4(CBL):c.1523G>A (p.Cys508Tyr)
NM_005188.4(CBL):c.1523G>C (p.Cys508Ser) rs2135310108
NM_005188.4(CBL):c.1527_1528delinsCT (p.Pro510Ser)
NM_005188.4(CBL):c.1534del (p.Ser512fs)
NM_005188.4(CBL):c.1537G>A (p.Ala513Thr) rs200442365
NM_005188.4(CBL):c.1538C>T (p.Ala513Val) rs1949970576
NM_005188.4(CBL):c.1543G>C (p.Ala515Pro) rs1171133734
NM_005188.4(CBL):c.1547T>C (p.Leu516Pro)
NM_005188.4(CBL):c.1561A>G (p.Lys521Glu)
NM_005188.4(CBL):c.1562A>T (p.Lys521Met)
NM_005188.4(CBL):c.1563+1G>A
NM_005188.4(CBL):c.1564-3C>T rs1555230585
NM_005188.4(CBL):c.1570T>G (p.Ser524Ala)
NM_005188.4(CBL):c.1579C>T (p.Leu527Phe)
NM_005188.4(CBL):c.1585A>G (p.Lys529Glu)
NM_005188.4(CBL):c.1598T>C (p.Leu533Ser)
NM_005188.4(CBL):c.1598dup (p.Leu533fs)
NM_005188.4(CBL):c.1618C>T (p.Arg540Ter) rs764340189
NM_005188.4(CBL):c.1619G>A (p.Arg540Gln) rs980503623
NM_005188.4(CBL):c.1622A>G (p.Asp541Gly)
NM_005188.4(CBL):c.1630C>T (p.Pro544Ser)
NM_005188.4(CBL):c.1633C>G (p.Pro545Ala)
NM_005188.4(CBL):c.1633C>T (p.Pro545Ser)
NM_005188.4(CBL):c.1634C>A (p.Pro545Gln) rs1949973481
NM_005188.4(CBL):c.1634C>T (p.Pro545Leu) rs1949973481
NM_005188.4(CBL):c.1655A>G (p.Tyr552Cys)
NM_005188.4(CBL):c.1675C>G (p.Arg559Gly) rs779425249
NM_005188.4(CBL):c.1696C>A (p.Pro566Thr)
NM_005188.4(CBL):c.1697C>G (p.Pro566Arg) rs1428398685
NM_005188.4(CBL):c.1699_1701dup (p.Cys567_Thr568insCys)
NM_005188.4(CBL):c.1700G>A (p.Cys567Tyr) rs1949974480
NM_005188.4(CBL):c.1710C>T (p.Gly570=)
NM_005188.4(CBL):c.1711G>A (p.Asp571Asn) rs483352825
NM_005188.4(CBL):c.1717C>T (p.Pro573Ser)
NM_005188.4(CBL):c.1732dup (p.Leu578fs) rs1949974996
NM_005188.4(CBL):c.1733T>C (p.Leu578Pro) rs776651600
NM_005188.4(CBL):c.1735C>G (p.Pro579Ala) rs752260506
NM_005188.4(CBL):c.1742T>G (p.Val581Gly)
NM_005188.4(CBL):c.1744C>A (p.Pro582Thr) rs2135310666
NM_005188.4(CBL):c.1745C>T (p.Pro582Leu) rs1949975295
NM_005188.4(CBL):c.1754G>A (p.Arg585His) rs727504640
NM_005188.4(CBL):c.1754G>C (p.Arg585Pro)
NM_005188.4(CBL):c.1754G>T (p.Arg585Leu) rs727504640
NM_005188.4(CBL):c.1757T>C (p.Leu586Pro)
NM_005188.4(CBL):c.1765T>C (p.Ser589Pro) rs1555230612
NM_005188.4(CBL):c.1768T>G (p.Trp590Gly)
NM_005188.4(CBL):c.1769G>C (p.Trp590Ser)
NM_005188.4(CBL):c.1771C>G (p.Leu591Val) rs1060500679
NM_005188.4(CBL):c.1778G>A (p.Arg593Gln) rs730880435
NM_005188.4(CBL):c.1781C>T (p.Pro594Leu)
NM_005188.4(CBL):c.1789A>G (p.Lys597Glu) rs1949976299
NM_005188.4(CBL):c.1790A>G (p.Lys597Arg) rs1363189852
NM_005188.4(CBL):c.1792G>A (p.Val598Ile)
NM_005188.4(CBL):c.1793T>A (p.Val598Glu) rs1060500675
NM_005188.4(CBL):c.1795C>A (p.Pro599Thr) rs1340017837
NM_005188.4(CBL):c.1795C>G (p.Pro599Ala) rs1340017837
NM_005188.4(CBL):c.1801T>C (p.Ser601Pro) rs1271364778
NM_005188.4(CBL):c.1810A>G (p.Ser604Gly) rs1555230616
NM_005188.4(CBL):c.1816A>G (p.Ser606Gly)
NM_005188.4(CBL):c.1818T>A (p.Ser606Arg)
NM_005188.4(CBL):c.1821T>A (p.Asp607Glu) rs2135310845
NM_005188.4(CBL):c.1822C>T (p.Pro608Ser) rs763666786
NM_005188.4(CBL):c.1823C>A (p.Pro608His) rs397507495
NM_005188.4(CBL):c.1831G>C (p.Gly611Arg)
NM_005188.4(CBL):c.1834A>G (p.Arg612Gly)
NM_005188.4(CBL):c.1837G>T (p.Glu613Ter)
NM_005188.4(CBL):c.1847A>C (p.Asn616Thr) rs376094293
NM_005188.4(CBL):c.1847A>G (p.Asn616Ser)
NM_005188.4(CBL):c.1847A>T (p.Asn616Ile)
NM_005188.4(CBL):c.1850G>T (p.Arg617Leu) rs780457588
NM_005188.4(CBL):c.1858C>G (p.Leu620Val)
NM_005188.4(CBL):c.1912G>A (p.Gly638Arg)
NM_005188.4(CBL):c.1915A>G (p.Ser639Gly)
NM_005188.4(CBL):c.1917C>G (p.Ser639Arg)
NM_005188.4(CBL):c.1919C>T (p.Thr640Met)
NM_005188.4(CBL):c.1928T>C (p.Leu643Pro)
NM_005188.4(CBL):c.192C>A (p.Asp64Glu)
NM_005188.4(CBL):c.192C>G (p.Asp64Glu) rs1565851628
NM_005188.4(CBL):c.1934C>T (p.Thr645Ile)
NM_005188.4(CBL):c.1937C>T (p.Ser646Phe)
NM_005188.4(CBL):c.1941+2T>G
NM_005188.4(CBL):c.1941+4A>C
NM_005188.4(CBL):c.1945A>G (p.Met649Val) rs769423231
NM_005188.4(CBL):c.1949_1951del (p.Asn650del)
NM_005188.4(CBL):c.195+5A>G rs1949271201
NM_005188.4(CBL):c.1951A>G (p.Ser651Gly)
NM_005188.4(CBL):c.1953C>A (p.Ser651Arg)
NM_005188.4(CBL):c.1954A>C (p.Ser652Arg) rs1055456727
NM_005188.4(CBL):c.1957C>T (p.Pro653Ser) rs1591265497
NM_005188.4(CBL):c.1958C>T (p.Pro653Leu)
NM_005188.4(CBL):c.1962A>T (p.Leu654Phe) rs727502915
NM_005188.4(CBL):c.196G>A (p.Val66Met)
NM_005188.4(CBL):c.1991T>C (p.Ile664Thr) rs397507496
NM_005188.4(CBL):c.2009C>T (p.Ala670Val)
NM_005188.4(CBL):c.2015C>A (p.Ala672Asp)
NM_005188.4(CBL):c.2017A>G (p.Ile673Val) rs1439055502
NM_005188.4(CBL):c.2021A>G (p.Tyr674Cys) rs768160029
NM_005188.4(CBL):c.2024C>A (p.Ser675Tyr)
NM_005188.4(CBL):c.2041_2044inv (p.Leu681_Pro682delinsGluAla)
NM_005188.4(CBL):c.2047G>A (p.Val683Met) rs2135319783
NM_005188.4(CBL):c.2050C>T (p.Pro684Ser) rs587778154
NM_005188.4(CBL):c.2053A>C (p.Lys685Gln) rs1555027603
NM_005188.4(CBL):c.2056C>G (p.Leu686Val)
NM_005188.4(CBL):c.2063C>G (p.Pro688Arg)
NM_005188.4(CBL):c.2065G>T (p.Gly689Trp)
NM_005188.4(CBL):c.2069A>T (p.Glu690Val)
NM_005188.4(CBL):c.206T>C (p.Leu69Ser)
NM_005188.4(CBL):c.2077G>A (p.Glu693Lys) rs587778156
NM_005188.4(CBL):c.2093C>A (p.Thr698Lys) rs1565272125
NM_005188.4(CBL):c.2095G>A (p.Glu699Lys)
NM_005188.4(CBL):c.2097G>C (p.Glu699Asp) rs1057519031
NM_005188.4(CBL):c.2100C>A (p.Tyr700Ter)
NM_005188.4(CBL):c.2107C>T (p.Pro703Ser)
NM_005188.4(CBL):c.2116A>T (p.Arg706Trp)
NM_005188.4(CBL):c.2120C>G (p.Pro707Arg) rs576175174
NM_005188.4(CBL):c.2135A>G (p.Asp712Gly)
NM_005188.4(CBL):c.213_214del (p.Asn72fs)
NM_005188.4(CBL):c.2144A>C (p.Gln715Pro)
NM_005188.4(CBL):c.2146A>G (p.Ser716Gly)
NM_005188.4(CBL):c.2152C>T (p.Arg718Ter)
NM_005188.4(CBL):c.2153+5G>C
NM_005188.4(CBL):c.2155G>T (p.Ala719Ser)
NM_005188.4(CBL):c.2161G>T (p.Asp721Tyr)
NM_005188.4(CBL):c.2164T>G (p.Cys722Gly)
NM_005188.4(CBL):c.2167G>A (p.Asp723Asn)
NM_005188.4(CBL):c.2177T>C (p.Ile726Thr)
NM_005188.4(CBL):c.2180A>G (p.Asp727Gly)
NM_005188.4(CBL):c.2192A>G (p.Tyr731Cys) rs1212670088
NM_005188.4(CBL):c.2201T>C (p.Met734Thr)
NM_005188.4(CBL):c.2202_2203dup (p.Tyr735fs)
NM_005188.4(CBL):c.2212C>G (p.Gln738Glu)
NM_005188.4(CBL):c.2228C>G (p.Ser743Cys)
NM_005188.4(CBL):c.2231T>G (p.Ile744Ser)
NM_005188.4(CBL):c.2232C>G (p.Ile744Met)
NM_005188.4(CBL):c.2236G>A (p.Glu746Lys)
NM_005188.4(CBL):c.223C>G (p.Leu75Val)
NM_005188.4(CBL):c.2249_2251dup (p.Phe750_Gly751insVal) rs1950072398
NM_005188.4(CBL):c.2251+6T>A
NM_005188.4(CBL):c.2252-2A>G rs1950077587
NM_005188.4(CBL):c.2252G>C (p.Gly751Ala)
NM_005188.4(CBL):c.2252G>T (p.Gly751Val) rs2135320929
NM_005188.4(CBL):c.2260A>G (p.Asn754Asp)
NM_005188.4(CBL):c.2266G>T (p.Ala756Ser)
NM_005188.4(CBL):c.226G>A (p.Ala76Thr) rs1483168332
NM_005188.4(CBL):c.2270C>T (p.Ala757Val) rs1489560722
NM_005188.4(CBL):c.2273C>T (p.Ala758Val)
NM_005188.4(CBL):c.227C>A (p.Ala76Glu) rs757898729
NM_005188.4(CBL):c.2282A>G (p.Asn761Ser)
NM_005188.4(CBL):c.2284A>G (p.Thr762Ala)
NM_005188.4(CBL):c.2285C>G (p.Thr762Ser)
NM_005188.4(CBL):c.2291C>G (p.Pro764Arg)
NM_005188.4(CBL):c.2293G>A (p.Glu765Lys)
NM_005188.4(CBL):c.2300C>T (p.Ser767Leu)
NM_005188.4(CBL):c.2309A>G (p.Glu770Gly)
NM_005188.4(CBL):c.2314G>A (p.Asp772Asn) rs1950078039
NM_005188.4(CBL):c.2315A>T (p.Asp772Val) rs2135321028
NM_005188.4(CBL):c.2338C>T (p.Pro780Ser) rs1555027886
NM_005188.4(CBL):c.2341G>C (p.Val781Leu)
NM_005188.4(CBL):c.2347G>T (p.Ala783Ser)
NM_005188.4(CBL):c.2349C>A (p.Ala783=) rs552509693
NM_005188.4(CBL):c.2350G>C (p.Val784Leu) rs140725852
NM_005188.4(CBL):c.2356del (p.Ala786fs)
NM_005188.4(CBL):c.2357C>T (p.Ala786Val)
NM_005188.4(CBL):c.235A>G (p.Asn79Asp)
NM_005188.4(CBL):c.2363G>C (p.Arg788Pro)
NM_005188.4(CBL):c.2369T>A (p.Leu790His) rs1950078661
NM_005188.4(CBL):c.2377A>G (p.Ile793Val)
NM_005188.4(CBL):c.2378T>C (p.Ile793Thr)
NM_005188.4(CBL):c.2381C>G (p.Ser794Cys)
NM_005188.4(CBL):c.2389A>G (p.Ser797Gly)
NM_005188.4(CBL):c.2390G>A (p.Ser797Asn)
NM_005188.4(CBL):c.2393CCT[1] (p.Ser799del) rs755938138
NM_005188.4(CBL):c.2396C>T (p.Ser799Phe)
NM_005188.4(CBL):c.2399T>G (p.Phe800Cys) rs1285510326
NM_005188.4(CBL):c.239G>A (p.Ser80Asn)
NM_005188.4(CBL):c.2404T>A (p.Trp802Arg) rs2135321282
NM_005188.4(CBL):c.2406G>A (p.Trp802Ter)
NM_005188.4(CBL):c.2408T>C (p.Leu803Ser) rs2135321296
NM_005188.4(CBL):c.2413C>G (p.Leu805Val) rs1950079119
NM_005188.4(CBL):c.2418T>G (p.Asp806Glu)
NM_005188.4(CBL):c.2420G>A (p.Gly807Asp)
NM_005188.4(CBL):c.2428A>G (p.Thr810Ala)
NM_005188.4(CBL):c.2429CAA[1] (p.Thr811del)
NM_005188.4(CBL):c.2432C>A (p.Thr811Lys)
NM_005188.4(CBL):c.2434+2T>A
NM_005188.4(CBL):c.2434+3G>A rs2135321343
NM_005188.4(CBL):c.2434A>G (p.Asn812Asp) rs907398440
NM_005188.4(CBL):c.2435-1_2435del rs749424087
NM_005188.4(CBL):c.2443G>A (p.Glu815Lys)
NM_005188.4(CBL):c.2452C>T (p.Gln818Ter)
NM_005188.4(CBL):c.2453A>C (p.Gln818Pro)
NM_005188.4(CBL):c.2458C>T (p.Pro820Ser)
NM_005188.4(CBL):c.2467C>T (p.Pro823Ser)
NM_005188.4(CBL):c.2470C>T (p.Pro824Ser)
NM_005188.4(CBL):c.2471C>T (p.Pro824Leu) rs2135322034
NM_005188.4(CBL):c.2483C>T (p.Pro828Leu)
NM_005188.4(CBL):c.248A>G (p.Tyr83Cys) rs1555226659
NM_005188.4(CBL):c.2494_2495del (p.Asn832fs)
NM_005188.4(CBL):c.2502A>T (p.Glu834Asp) rs1950085952
NM_005188.4(CBL):c.2504G>A (p.Arg835Gln) rs1057518072
NM_005188.4(CBL):c.2509G>A (p.Ala837Thr) rs1950086093
NM_005188.4(CBL):c.250A>G (p.Ile84Val)
NM_005188.4(CBL):c.2519G>A (p.Cys840Tyr) rs376536789
NM_005188.4(CBL):c.251T>C (p.Ile84Thr)
NM_005188.4(CBL):c.2530A>G (p.Ser844Gly)
NM_005188.4(CBL):c.2531G>A (p.Ser844Asn)
NM_005188.4(CBL):c.2536C>T (p.Pro846Ser)
NM_005188.4(CBL):c.2542G>T (p.Ala848Ser)
NM_005188.4(CBL):c.2546C>T (p.Ser849Phe)
NM_005188.4(CBL):c.2551G>T (p.Ala851Ser)
NM_005188.4(CBL):c.2554A>C (p.Thr852Pro)
NM_005188.4(CBL):c.2558C>T (p.Ala853Val)
NM_005188.4(CBL):c.2569_2574dup (p.Ser858_Ser859insLeuSer)
NM_005188.4(CBL):c.2573C>G (p.Ser858Cys)
NM_005188.4(CBL):c.2573C>T (p.Ser858Phe) rs2135322201
NM_005188.4(CBL):c.2579A>T (p.Glu860Val) rs1950087188
NM_005188.4(CBL):c.2590C>G (p.Leu864Val) rs2135322234
NM_005188.4(CBL):c.2599C>T (p.Gln867Ter)
NM_005188.4(CBL):c.2600A>C (p.Gln867Pro)
NM_005188.4(CBL):c.260T>A (p.Leu87Gln) rs2135266203
NM_005188.4(CBL):c.2614C>G (p.Gln872Glu) rs746795014
NM_005188.4(CBL):c.2629G>C (p.Ala877Pro)
NM_005188.4(CBL):c.263T>C (p.Leu88Pro)
NM_005188.4(CBL):c.2642C>G (p.Ala881Gly)
NM_005188.4(CBL):c.2644C>A (p.Gln882Lys)
NM_005188.4(CBL):c.265C>T (p.Pro89Ser) rs1949511407
NM_005188.4(CBL):c.2684T>C (p.Phe895Ser)
NM_005188.4(CBL):c.2686G>A (p.Val896Ile) rs2135322351
NM_005188.4(CBL):c.2687T>C (p.Val896Ala)
NM_005188.4(CBL):c.2694T>G (p.Ile898Met)
NM_005188.4(CBL):c.269A>G (p.Asp90Gly) rs1555226661
NM_005188.4(CBL):c.2701_2703del (p.Pro901del)
NM_005188.4(CBL):c.2708A>G (p.His903Arg) rs1950088762
NM_005188.4(CBL):c.2710_2711del (p.Val904fs)
NM_005188.4(CBL):c.2714C>A (p.Ala905Asp)
NM_005188.4(CBL):c.272C>A (p.Thr91Asn)
NM_005188.4(CBL):c.287G>A (p.Arg96His)
NM_005188.4(CBL):c.313A>C (p.Lys105Gln)
NM_005188.4(CBL):c.320A>C (p.Glu107Ala)
NM_005188.4(CBL):c.326T>C (p.Leu109Pro)
NM_005188.4(CBL):c.328G>A (p.Gly110Arg) rs1565859798
NM_005188.4(CBL):c.337G>A (p.Glu113Lys)
NM_005188.4(CBL):c.338A>C (p.Glu113Ala)
NM_005188.4(CBL):c.346A>G (p.Arg116Gly)
NM_005188.4(CBL):c.355A>G (p.Met119Val) rs1173256276
NM_005188.4(CBL):c.357G>A (p.Met119Ile) rs1490142046
NM_005188.4(CBL):c.357G>T (p.Met119Ile) rs1490142046
NM_005188.4(CBL):c.367A>G (p.Met123Val) rs1949512275
NM_005188.4(CBL):c.372G>C (p.Lys124Asn)
NM_005188.4(CBL):c.383A>G (p.Gln128Arg)
NM_005188.4(CBL):c.385A>G (p.Thr129Ala)
NM_005188.4(CBL):c.394del (p.Leu132fs)
NM_005188.4(CBL):c.401A>G (p.Lys134Arg) rs2135266374
NM_005188.4(CBL):c.406G>A (p.Gly136Arg) rs2135266379
NM_005188.4(CBL):c.419T>G (p.Met140Arg) rs1555226684
NM_005188.4(CBL):c.420G>A (p.Met140Ile) rs2135266393
NM_005188.4(CBL):c.421T>C (p.Tyr141His)
NM_005188.4(CBL):c.438G>C (p.Gln146His)
NM_005188.4(CBL):c.438G>T (p.Gln146His)
NM_005188.4(CBL):c.443+18C>T
NM_005188.4(CBL):c.444-10T>C
NM_005188.4(CBL):c.444-14C>A
NM_005188.4(CBL):c.444-3T>C
NM_005188.4(CBL):c.444-5del
NM_005188.4(CBL):c.445C>T (p.Arg149Ter) rs267602720
NM_005188.4(CBL):c.453A>C (p.Leu151=)
NM_005188.4(CBL):c.454A>C (p.Thr152Pro)
NM_005188.4(CBL):c.455C>A (p.Thr152Asn)
NM_005188.4(CBL):c.457A>G (p.Lys153Glu)
NM_005188.4(CBL):c.471C>G (p.Ile157Met)
NM_005188.4(CBL):c.473T>C (p.Phe158Ser) rs2135297020
NM_005188.4(CBL):c.481A>C (p.Met161Leu)
NM_005188.4(CBL):c.482T>A (p.Met161Lys)
NM_005188.4(CBL):c.493C>G (p.Leu165Val) rs1555229540
NM_005188.4(CBL):c.498A>C (p.Lys166Asn) rs1565870421
NM_005188.4(CBL):c.522T>G (p.Phe174Leu)
NM_005188.4(CBL):c.538C>T (p.Arg180Trp)
NM_005188.4(CBL):c.550G>A (p.Ala184Thr)
NM_005188.4(CBL):c.586dup (p.Glu196fs) rs2135297170
NM_005188.4(CBL):c.590+2T>G
NM_005188.4(CBL):c.590+3A>C
NM_005188.4(CBL):c.591-3C>G
NM_005188.4(CBL):c.619C>A (p.Gln207Lys)
NM_005188.4(CBL):c.628C>G (p.His210Asp)
NM_005188.4(CBL):c.634G>A (p.Val212Met)
NM_005188.4(CBL):c.643A>G (p.Ile215Val)
NM_005188.4(CBL):c.646A>G (p.Ser216Gly)
NM_005188.4(CBL):c.650C>G (p.Ser217Cys)
NM_005188.4(CBL):c.650C>T (p.Ser217Phe)
NM_005188.4(CBL):c.656T>C (p.Leu219Pro) rs895664191
NM_005188.4(CBL):c.664A>G (p.Met222Val)
NM_005188.4(CBL):c.665T>C (p.Met222Thr) rs1057518053
NM_005188.4(CBL):c.686A>G (p.Asp229Gly)
NM_005188.4(CBL):c.704A>G (p.Tyr235Cys)
NM_005188.4(CBL):c.710C>A (p.Ser237Ter)
NM_005188.4(CBL):c.727A>T (p.Ile243Phe)
NM_005188.4(CBL):c.728T>C (p.Ile243Thr) rs1268100574
NM_005188.4(CBL):c.747+3A>G rs1592398477
NM_005188.4(CBL):c.747G>A (p.Gln249=) rs1949869019
NM_005188.4(CBL):c.748-3T>C rs1060500677
NM_005188.4(CBL):c.765C>G (p.Leu255=)
NM_005188.4(CBL):c.785C>T (p.Ala262Val) rs1949876321
NM_005188.4(CBL):c.838C>G (p.Arg280Gly)
NM_005188.4(CBL):c.851T>C (p.Phe284Ser)
NM_005188.4(CBL):c.864dup (p.Gly289fs)
NM_005188.4(CBL):c.866G>T (p.Gly289Val) rs2135300624
NM_005188.4(CBL):c.880C>T (p.Arg294Trp)
NM_005188.4(CBL):c.892A>C (p.Thr298Pro) rs1949886947
NM_005188.4(CBL):c.895C>T (p.Arg299Cys) rs1053471259
NM_005188.4(CBL):c.913A>G (p.Ile305Val)
NM_005188.4(CBL):c.929C>G (p.Ala310Gly)
NM_005188.4(CBL):c.936G>T (p.Gly312=) rs1949887269
NM_005188.4(CBL):c.938A>G (p.Asn313Ser)
NM_005188.4(CBL):c.940A>T (p.Ile314Phe)
NM_005188.4(CBL):c.952A>G (p.Ile318Val)
NM_005188.4(CBL):c.960C>A (p.His320Gln) rs1949887450

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