Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.119278069_119278256delinsCGGCA645576427CBLc.*548-97_*638delinsCGG
c.1096-97_1186delinsCGG
c.1090-97_1180delinsCGG
COSMIC
11g.119278155_119278179delCA2695215601CBLc.*548-11_*561del
c.1096-11_1109del
c.1090-11_1103del
11g.119278156_119278176delinsCCGGGGCA645576428CBLc.*548-10_*558delinsCCGGGG
c.1096-10_1106delinsCCGGGG
c.1090-10_1100delinsCCGGGG
COSMIC
11g.119278159_119278180delCA645576429CBLc.*548-7_*562del
c.1096-7_1110del
c.1090-7_1104del
COSMIC
11g.119278167_119278714delCA645576430CBLc.*549_*883+1del
c.1097_1431+1del
c.1091_1425+1del
COSMIC
11g.119278167_119278298delCA645576432CBLc.*549_*679+1del
c.1097_1227+1del
c.1091_1221+1del
COSMIC
11g.119278167_119278193delCA2580611939CBLc.*549_*575del
c.1097_1123del
c.1091_1117del
11g.119278166_119278178delinsCAGTCTTCACA645576433CBLc.*548_*560delinsCAGTCTTCA (n.*548_*560delinsCAGTCTTCA)
c.1096_1108delinsCAGTCTTCA (p.Glu366GlnfsTer25)
c.1090_1102delinsCAGTCTTCA (p.Glu364GlnfsTer25)
COSMIC
11g.119278173_119278178delCA2580083685CBLc.*555_*560del (n.*555_*560del)
c.1103_1108del (p.Tyr368_Glu369del)
c.1097_1102del (p.Tyr366_Glu367del)
ClinVar
11g.119278174_119278182delCA2695215604CBLc.*556_*564del (n.*556_*564del)
c.1104_1112del (p.Glu369_Tyr371del)
c.1098_1106del (p.Glu367_Tyr369del)
11g.119278175_119278176insCAGATGCA645576436CBLc.*557_*558insCAGATG (n.*557_*558insCAGATG)
c.1105_1106insCAGATG (p.Tyr368_Glu369insAlaAsp)
c.1099_1100insCAGATG (p.Tyr366_Glu367insAlaAsp)
COSMIC
11g.119278176_119278241delCA645576435CBLc.*558_*623del (n.*558_*623del)
c.1106_1171del (p.Glu369_Asp390del)
c.1100_1165del (p.Glu367_Asp388del)
COSMIC COSMIC
11g.119278174T>ACA382912248CBLc.*556T>A (n.*556T>A)
c.1104T>A (p.Tyr368Ter)
c.1098T>A (p.Tyr366Ter)
dbSNP
11g.119278174T>CCA477135323CBLc.*556T>C (n.*556T>C)
c.1104T>C (p.Tyr368=)
c.1098T>C (p.Tyr366=)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.119278174T>GCA382912250CBLc.*556T>G (n.*556T>G)
c.1104T>G (p.Tyr368Ter)
c.1098T>G (p.Tyr366Ter)
dbSNP
11g.119278174T=CA2003905829CBLc.*556T= (n.*556T=)
c.1104T= (p.Tyr368=)
c.1098T= (p.Tyr366=)
11g.119278177_119278188delCA2697559051CBLc.*559_*570del (n.*559_*570del)
c.1107_1118del (p.Leu370_Glu373del)
c.1101_1112del (p.Leu368_Glu371del)
ClinVar
11g.119278175G>ACA382912251CBLc.*557G>A (n.*557G>A)
c.1105G>A (p.Glu369Lys)
c.1099G>A (p.Glu367Lys)
11g.119278175G>CCA382912253CBLc.*557G>C (n.*557G>C)
c.1105G>C (p.Glu369Gln)
c.1099G>C (p.Glu367Gln)
11g.119278175G>TCA382912255CBLc.*557G>T (n.*557G>T)
c.1105G>T (p.Glu369Ter)
c.1099G>T (p.Glu367Ter)
11g.119278179_119278513delCA645576437CBLc.*561_*683del
c.1109_1231del
c.1103_1225del
COSMIC
11g.119278176A>CCA382912258CBLc.*558A>C (n.*558A>C)
c.1106A>C (p.Glu369Ala)
c.1100A>C (p.Glu367Ala)
11g.119278176A>GCA382912270CBLc.*558A>G (n.*558A>G)
c.1106A>G (p.Glu369Gly)
c.1100A>G (p.Glu367Gly)
11g.119278176A>TCA382912273CBLc.*558A>T (n.*558A>T)
c.1106A>T (p.Glu369Val)
c.1100A>T (p.Glu367Val)
dbSNP
11g.119278177A>CCA382912276CBLc.*559A>C (n.*559A>C)
c.1107A>C (p.Glu369Asp)
c.1101A>C (p.Glu367Asp)
11g.119278177A>GCA477135340CBLc.*559A>G (n.*559A>G)
c.1107A>G (p.Glu369=)
c.1101A>G (p.Glu367=)
11g.119278177A>TCA382912278CBLc.*559A>T (n.*559A>T)
c.1107A>T (p.Glu369Asp)
c.1101A>T (p.Glu367Asp)
dbSNP
11g.119278179_119278181dupCA645576438CBLc.*561_*563dup (n.*561_*563dup)
c.1109_1111dup (p.Leu370_Tyr371insLeu)
c.1103_1105dup (p.Leu368_Tyr369insLeu)
ClinVar COSMIC
11g.119278178T>ACA382912281CBLc.*560T>A (n.*560T>A)
c.1108T>A (p.Leu370Ile)
c.1102T>A (p.Leu368Ile)
dbSNP
11g.119278178T>CCA477135345CBLc.*560T>C (n.*560T>C)
c.1108T>C (p.Leu370=)
c.1102T>C (p.Leu368=)
11g.119278178T>GCA382912283CBLc.*560T>G (n.*560T>G)
c.1108T>G (p.Leu370Val)
c.1102T>G (p.Leu368Val)
gnomAD v4
11g.119278179T>ACA382912285CBLc.*561T>A (n.*561T>A)
c.1109T>A (p.Leu370Ter)
c.1103T>A (p.Leu368Ter)
dbSNP
11g.119278179T>CCA382912288CBLc.*561T>C (n.*561T>C)
c.1109T>C (p.Leu370Ser)
c.1103T>C (p.Leu368Ser)
11g.119278179T>GCA382912298CBLc.*561T>G (n.*561T>G)
c.1109T>G (p.Leu370Ter)
c.1103T>G (p.Leu368Ter)
11g.119278179_119278183delinsCGAGGGTTCA645576439CBLc.*561_*565delinsCGAGGGTT (n.*561_*565delinsCGAGGGTT)
c.1109_1113delinsCGAGGGTT (p.Leu370_Tyr371delinsSerArgVal)
c.1103_1107delinsCGAGGGTT (p.Leu368_Tyr369delinsSerArgVal)
COSMIC
11g.119278180A=CA2003905832CBLc.*562A= (n.*562A=)
c.1110A= (p.Leu370=)
c.1104A= (p.Leu368=)
11g.119278180A>CCA229661803CBLc.*562A>C (n.*562A>C)
c.1110A>C (p.Leu370Phe)
c.1104A>C (p.Leu368Phe)
ClinVar dbSNP
11g.119278180A>GCA477135363CBLc.*562A>G (n.*562A>G)
c.1110A>G (p.Leu370=)
c.1104A>G (p.Leu368=)
ClinVar dbSNP gnomAD v4
11g.119278180A>TCA382912299CBLc.*562A>T (n.*562A>T)
c.1110A>T (p.Leu370Phe)
c.1104A>T (p.Leu368Phe)
gnomAD v4 COSMIC
11g.119278180_119278182delCA2695215605CBLc.*562_*564del (n.*562_*564del)
c.1110_1112del (p.Leu370_Tyr371delinsPhe)
c.1104_1106del (p.Leu368_Tyr369delinsPhe)
11g.119278181T>ACA296015CBLc.*563T>A (n.*563T>A)
c.1111T>A (p.Tyr371Asn)
c.1105T>A (p.Tyr369Asn)
ClinVar dbSNP gnomAD v4 COSMIC
11g.119278181T>CCA123492CBLc.*563T>C (n.*563T>C)
c.1111T>C (p.Tyr371His)
c.1105T>C (p.Tyr369His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.119278181T>GCA382912301CBLc.*563T>G (n.*563T>G)
c.1111T>G (p.Tyr371Asp)
c.1105T>G (p.Tyr369Asp)
ClinVar dbSNP gnomAD v4 COSMIC
11g.119278181T=CA2003905836CBLc.*563T= (n.*563T=)
c.1111T= (p.Tyr371=)
c.1105T= (p.Tyr369=)
11g.119278182_119278184delCA2573146903CBLc.*564_*566del (n.*564_*566del)
c.1112_1114del (p.Tyr371del)
c.1106_1108del (p.Tyr369del)
ClinVar dbSNP
11g.119278182A=CA2003905846CBLc.*564A= (n.*564A=)
c.1112A= (p.Tyr371=)
c.1106A= (p.Tyr369=)
11g.119278182A>CCA382912305CBLc.*564A>C (n.*564A>C)
c.1112A>C (p.Tyr371Ser)
c.1106A>C (p.Tyr369Ser)
ClinVar dbSNP gnomAD v4 COSMIC
11g.119278182A>GCA128671CBLc.*564A>G (n.*564A>G)
c.1112A>G (p.Tyr371Cys)
c.1106A>G (p.Tyr369Cys)
ClinVar dbSNP gnomAD v4 COSMIC
11g.119278182A>TCA382912312CBLc.*564A>T (n.*564A>T)
c.1112A>T (p.Tyr371Phe)
c.1106A>T (p.Tyr369Phe)
ClinVar dbSNP
11g.119278182_119278183delinsACCA2003905855CBLc.*564_*565delinsAC (n.*564_*565delinsAC)
c.1112_1113delinsAC (p.Tyr371=)
c.1106_1107delinsAC (p.Tyr369=)
11g.119278183delCA602578942CBLc.*565del (n.*565del)
c.1113del (p.Cys372ValfsTer20)
c.1107del (p.Cys370ValfsTer20)
dbSNP gnomAD v2
11g.119278183C>ACA382912315CBLc.*565C>A (n.*565C>A)
c.1113C>A (p.Tyr371Ter)
c.1107C>A (p.Tyr369Ter)
dbSNP
11g.119278183C=CA2003905862CBLc.*565C= (n.*565C=)
c.1113C= (p.Tyr371=)
c.1107C= (p.Tyr369=)
11g.119278183C>GCA382912314CBLc.*565C>G (n.*565C>G)
c.1113C>G (p.Tyr371Ter)
c.1107C>G (p.Tyr369Ter)
dbSNP
11g.119278183C>TCA477135390CBLc.*565C>T (n.*565C>T)
c.1113C>T (p.Tyr371=)
c.1107C>T (p.Tyr369=)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.119278184T>ACA382912318CBLc.*566T>A (n.*566T>A)
c.1114T>A (p.Cys372Ser)
c.1108T>A (p.Cys370Ser)
11g.119278184T>CCA382912321CBLc.*566T>C (n.*566T>C)
c.1114T>C (p.Cys372Arg)
c.1108T>C (p.Cys370Arg)
11g.119278184T>GCA382912324CBLc.*566T>G (n.*566T>G)
c.1114T>G (p.Cys372Gly)
c.1108T>G (p.Cys370Gly)
11g.119278186_119278187delCA2616387488CBLc.*568_*569del (n.*568_*569del)
c.1116_1117del (p.Cys372Ter)
c.1110_1111del (p.Cys370Ter)
gnomAD v4
11g.119278185G>ACA382912327CBLc.*567G>A (n.*567G>A)
c.1115G>A (p.Cys372Tyr)
c.1109G>A (p.Cys370Tyr)
dbSNP
11g.119278185G>CCA382912328CBLc.*567G>C (n.*567G>C)
c.1115G>C (p.Cys372Ser)
c.1109G>C (p.Cys370Ser)
dbSNP
11g.119278185G>TCA382912331CBLc.*567G>T (n.*567G>T)
c.1115G>T (p.Cys372Phe)
c.1109G>T (p.Cys370Phe)
dbSNP
11g.119278186T>ACA382912338CBLc.*568T>A (n.*568T>A)
c.1116T>A (p.Cys372Ter)
c.1110T>A (p.Cys370Ter)
dbSNP
11g.119278186T>CCA477135413CBLc.*568T>C (n.*568T>C)
c.1116T>C (p.Cys372=)
c.1110T>C (p.Cys370=)
11g.119278186T>GCA382912335CBLc.*568T>G (n.*568T>G)
c.1116T>G (p.Cys372Trp)
c.1110T>G (p.Cys370Trp)
11g.119278187G>ACA382912340CBLc.*569G>A (n.*569G>A)
c.1117G>A (p.Glu373Lys)
c.1111G>A (p.Glu371Lys)
11g.119278187G>CCA382912342CBLc.*569G>C (n.*569G>C)
c.1117G>C (p.Glu373Gln)
c.1111G>C (p.Glu371Gln)
dbSNP
11g.119278187G>TCA382912345CBLc.*569G>T (n.*569G>T)
c.1117G>T (p.Glu373Ter)
c.1111G>T (p.Glu371Ter)
11g.119278188A>CCA382912348CBLc.*570A>C (n.*570A>C)
c.1118A>C (p.Glu373Ala)
c.1112A>C (p.Glu371Ala)
11g.119278188A>GCA382912350CBLc.*570A>G (n.*570A>G)
c.1118A>G (p.Glu373Gly)
c.1112A>G (p.Glu371Gly)
11g.119278188A>TCA382912352CBLc.*570A>T (n.*570A>T)
c.1118A>T (p.Glu373Val)
c.1112A>T (p.Glu371Val)
dbSNP
11g.119278189G>ACA6318433CBLc.*571G>A (n.*571G>A)
c.1119G>A (p.Glu373=)
c.1113G>A (p.Glu371=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.119278189G>CCA382912358CBLc.*571G>C (n.*571G>C)
c.1119G>C (p.Glu373Asp)
c.1113G>C (p.Glu371Asp)
dbSNP
11g.119278189G=CA2003905866CBLc.*571G= (n.*571G=)
c.1119G= (p.Glu373=)
c.1113G= (p.Glu371=)
11g.119278189G>TCA382912355CBLc.*571G>T (n.*571G>T)
c.1119G>T (p.Glu373Asp)
c.1113G>T (p.Glu371Asp)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.119278190A=CA2003905873CBLc.*572A= (n.*572A=)
c.1120A= (p.Met374=)
c.1114A= (p.Met372=)
11g.119278190A>CCA382912361CBLc.*572A>C (n.*572A>C)
c.1120A>C (p.Met374Leu)
c.1114A>C (p.Met372Leu)
gnomAD v4
11g.119278190A>GCA382912362CBLc.*572A>G (n.*572A>G)
c.1120A>G (p.Met374Val)
c.1114A>G (p.Met372Val)
dbSNP COSMIC
11g.119278190A>TCA382912366CBLc.*572A>T (n.*572A>T)
c.1120A>T (p.Met374Leu)
c.1114A>T (p.Met372Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.119278191T>ACA382912369CBLc.*573T>A (n.*573T>A)
c.1121T>A (p.Met374Lys)
c.1115T>A (p.Met372Lys)
11g.119278191T>CCA382912372CBLc.*573T>C (n.*573T>C)
c.1121T>C (p.Met374Thr)
c.1115T>C (p.Met372Thr)
gnomAD v4
11g.119278191T>GCA382912374CBLc.*573T>G (n.*573T>G)
c.1121T>G (p.Met374Arg)
c.1115T>G (p.Met372Arg)
11g.119278192G>ACA6318434CBLc.*574G>A (n.*574G>A)
c.1122G>A (p.Met374Ile)
c.1116G>A (p.Met372Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.119278192G>CCA382912378CBLc.*574G>C (n.*574G>C)
c.1122G>C (p.Met374Ile)
c.1116G>C (p.Met372Ile)
dbSNP
11g.119278192G=CA2003905877CBLc.*574G= (n.*574G=)
c.1122G= (p.Met374=)
c.1116G= (p.Met372=)
11g.119278192G>TCA382912380CBLc.*574G>T (n.*574G>T)
c.1122G>T (p.Met374Ile)
c.1116G>T (p.Met372Ile)
11g.119278193G>ACA382912383CBLc.*575G>A (n.*575G>A)
c.1123G>A (p.Gly375Ser)
c.1117G>A (p.Gly373Ser)
dbSNP
11g.119278193G>CCA382912385CBLc.*575G>C (n.*575G>C)
c.1123G>C (p.Gly375Arg)
c.1117G>C (p.Gly373Arg)
ClinVar dbSNP gnomAD v4
11g.119278193G>TCA382912386CBLc.*575G>T (n.*575G>T)
c.1123G>T (p.Gly375Cys)
c.1117G>T (p.Gly373Cys)
dbSNP
11g.119278194G>ACA382912391CBLc.*576G>A (n.*576G>A)
c.1124G>A (p.Gly375Asp)
c.1118G>A (p.Gly373Asp)
dbSNP
11g.119278194G>CCA382912392CBLc.*576G>C (n.*576G>C)
c.1124G>C (p.Gly375Ala)
c.1118G>C (p.Gly373Ala)
dbSNP
11g.119278194G>TCA382912389CBLc.*576G>T (n.*576G>T)
c.1124G>T (p.Gly375Val)
c.1118G>T (p.Gly373Val)
dbSNP gnomAD v4
11g.119278195C>ACA477135475CBLc.*577C>A (n.*577C>A)
c.1125C>A (p.Gly375=)
c.1119C>A (p.Gly373=)
dbSNP
11g.119278195C=CA2003905883CBLc.*577C= (n.*577C=)
c.1125C= (p.Gly375=)
c.1119C= (p.Gly373=)
11g.119278195C>GCA477135477CBLc.*577C>G (n.*577C>G)
c.1125C>G (p.Gly375=)
c.1119C>G (p.Gly373=)
dbSNP gnomAD v4
11g.119278195C>TCA6318435CBLc.*577C>T (n.*577C>T)
c.1125C>T (p.Gly375=)
c.1119C>T (p.Gly373=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.119278196T>ACA382912398CBLc.*578T>A (n.*578T>A)
c.1126T>A (p.Ser376Thr)
c.1120T>A (p.Ser374Thr)
11g.119278196T>CCA382912403CBLc.*578T>C (n.*578T>C)
c.1126T>C (p.Ser376Pro)
c.1120T>C (p.Ser374Pro)
ClinVar
11g.119278196T>GCA382912401CBLc.*578T>G (n.*578T>G)
c.1126T>G (p.Ser376Ala)
c.1120T>G (p.Ser374Ala)
11g.119278197C>ACA382912405CBLc.*579C>A (n.*579C>A)
c.1127C>A (p.Ser376Tyr)
c.1121C>A (p.Ser374Tyr)
dbSNP gnomAD v4
11g.119278197C=CA2003905884CBLc.*579C= (n.*579C=)
c.1127C= (p.Ser376=)
c.1121C= (p.Ser374=)
11g.119278197C>GCA382912406CBLc.*579C>G (n.*579C>G)
c.1127C>G (p.Ser376Cys)
c.1121C>G (p.Ser374Cys)
dbSNP
11g.119278197C>TCA382912407CBLc.*579C>T (n.*579C>T)
c.1127C>T (p.Ser376Phe)
c.1121C>T (p.Ser374Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.119278198C>ACA477135497CBLc.*580C>A (n.*580C>A)
c.1128C>A (p.Ser376=)
c.1122C>A (p.Ser374=)
dbSNP
11g.119278198C=CA2003905887CBLc.*580C= (n.*580C=)
c.1128C= (p.Ser376=)
c.1122C= (p.Ser374=)
11g.119278198C>GCA477135509CBLc.*580C>G (n.*580C>G)
c.1128C>G (p.Ser376=)
c.1122C>G (p.Ser374=)
dbSNP
11g.119278198C>TCA477135512CBLc.*580C>T (n.*580C>T)
c.1128C>T (p.Ser376=)
c.1122C>T (p.Ser374=)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.119278199delCA2580083686CBLc.*581del (n.*581del)
c.1129del (p.Thr377HisfsTer15)
c.1123del (p.Thr375HisfsTer15)
ClinVar
11g.119278199A=CA2003905892CBLc.*581A= (n.*581A=)
c.1129A= (p.Thr377=)
c.1123A= (p.Thr375=)
11g.119278199A>CCA382912408CBLc.*581A>C (n.*581A>C)
c.1129A>C (p.Thr377Pro)
c.1123A>C (p.Thr375Pro)
dbSNP
11g.119278199A>GCA175402CBLc.*581A>G (n.*581A>G)
c.1129A>G (p.Thr377Ala)
c.1123A>G (p.Thr375Ala)
ClinVar dbSNP gnomAD v4 COSMIC
11g.119278199A>TCA382912410CBLc.*581A>T (n.*581A>T)
c.1129A>T (p.Thr377Ser)
c.1123A>T (p.Thr375Ser)
dbSNP
11g.119278200C>ACA382912421CBLc.*582C>A (n.*582C>A)
c.1130C>A (p.Thr377Lys)
c.1124C>A (p.Thr375Lys)
11g.119278200C=CA2003905895CBLc.*582C= (n.*582C=)
c.1130C= (p.Thr377=)
c.1124C= (p.Thr375=)
11g.119278200C>GCA382912418CBLc.*582C>G (n.*582C>G)
c.1130C>G (p.Thr377Arg)
c.1124C>G (p.Thr375Arg)
dbSNP
11g.119278200C>TCA382912415CBLc.*582C>T (n.*582C>T)
c.1130C>T (p.Thr377Ile)
c.1124C>T (p.Thr375Ile)
dbSNP gnomAD v4
11g.119278201A>CCA477135538CBLc.*583A>C (n.*583A>C)
c.1131A>C (p.Thr377=)
c.1125A>C (p.Thr375=)
gnomAD v4
11g.119278201A>GCA477135541CBLc.*583A>G (n.*583A>G)
c.1131A>G (p.Thr377=)
c.1125A>G (p.Thr375=)
dbSNP
11g.119278201A>TCA477135536CBLc.*583A>T (n.*583A>T)
c.1131A>T (p.Thr377=)
c.1125A>T (p.Thr375=)
11g.119278202_119278207delCA2573146907CBLc.*584_*589del (n.*584_*589del)
c.1132_1137del (p.Phe378_Gln379del)
c.1126_1131del (p.Phe376_Gln377del)
ClinVar dbSNP
11g.119278202T>ACA382912422CBLc.*584T>A (n.*584T>A)
c.1132T>A (p.Phe378Ile)
c.1126T>A (p.Phe376Ile)
gnomAD v4
11g.119278202T>CCA382912424CBLc.*584T>C (n.*584T>C)
c.1132T>C (p.Phe378Leu)
c.1126T>C (p.Phe376Leu)
ClinVar dbSNP
11g.119278202T>GCA382912427CBLc.*584T>G (n.*584T>G)
c.1132T>G (p.Phe378Val)
c.1126T>G (p.Phe376Val)
11g.119278203T>ACA382912431CBLc.*585T>A (n.*585T>A)
c.1133T>A (p.Phe378Tyr)
c.1127T>A (p.Phe376Tyr)
dbSNP
11g.119278203T>CCA382912434CBLc.*585T>C (n.*585T>C)
c.1133T>C (p.Phe378Ser)
c.1127T>C (p.Phe376Ser)
11g.119278203T>GCA382912436CBLc.*585T>G (n.*585T>G)
c.1133T>G (p.Phe378Cys)
c.1127T>G (p.Phe376Cys)
11g.119278204C>ACA382912441CBLc.*586C>A (n.*586C>A)
c.1134C>A (p.Phe378Leu)
c.1128C>A (p.Phe376Leu)
ClinVar dbSNP gnomAD v4
11g.119278204C=CA2003905899CBLc.*586C= (n.*586C=)
c.1134C= (p.Phe378=)
c.1128C= (p.Phe376=)
11g.119278204C>GCA382912443CBLc.*586C>G (n.*586C>G)
c.1134C>G (p.Phe378Leu)
c.1128C>G (p.Phe376Leu)
dbSNP
11g.119278204C>TCA6318436CBLc.*586C>T (n.*586C>T)
c.1134C>T (p.Phe378=)
c.1128C>T (p.Phe376=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.119278205C>ACA382912445CBLc.*587C>A (n.*587C>A)
c.1135C>A (p.Gln379Lys)
c.1129C>A (p.Gln377Lys)
ClinVar dbSNP gnomAD v4
11g.119278205C>GCA382912447CBLc.*587C>G (n.*587C>G)
c.1135C>G (p.Gln379Glu)
c.1129C>G (p.Gln377Glu)
dbSNP
11g.119278205C>TCA382912450CBLc.*587C>T (n.*587C>T)
c.1135C>T (p.Gln379Ter)
c.1129C>T (p.Gln377Ter)
dbSNP
11g.119278206A>CCA382912452CBLc.*588A>C (n.*588A>C)
c.1136A>C (p.Gln379Pro)
c.1130A>C (p.Gln377Pro)
11g.119278206A>GCA382912454CBLc.*588A>G (n.*588A>G)
c.1136A>G (p.Gln379Arg)
c.1130A>G (p.Gln377Arg)
COSMIC
11g.119278206A>TCA382912456CBLc.*588A>T (n.*588A>T)
c.1136A>T (p.Gln379Leu)
c.1130A>T (p.Gln377Leu)
dbSNP
11g.119278207A=CA2003905910CBLc.*589A= (n.*589A=)
c.1137A= (p.Gln379=)
c.1131A= (p.Gln377=)
11g.119278207A>CCA382912459CBLc.*589A>C (n.*589A>C)
c.1137A>C (p.Gln379His)
c.1131A>C (p.Gln377His)
ClinVar dbSNP gnomAD v4
11g.119278207A>GCA6318437CBLc.*589A>G (n.*589A>G)
c.1137A>G (p.Gln379=)
c.1131A>G (p.Gln377=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.119278207A>TCA382912463CBLc.*589A>T (n.*589A>T)
c.1137A>T (p.Gln379His)
c.1131A>T (p.Gln377His)
dbSNP
11g.119278208C>ACA382912467CBLc.*590C>A (n.*590C>A)
c.1138C>A (p.Leu380Ile)
c.1132C>A (p.Leu378Ile)
dbSNP
11g.119278208C>GCA382912468CBLc.*590C>G (n.*590C>G)
c.1138C>G (p.Leu380Val)
c.1132C>G (p.Leu378Val)
dbSNP
11g.119278208C>TCA477135590CBLc.*590C>T (n.*590C>T)
c.1138C>T (p.Leu380=)
c.1132C>T (p.Leu378=)
dbSNP gnomAD v4
11g.119278209T>ACA382912473CBLc.*591T>A (n.*591T>A)
c.1139T>A (p.Leu380Gln)
c.1133T>A (p.Leu378Gln)
dbSNP
11g.119278209T>CCA382912479CBLc.*591T>C (n.*591T>C)
c.1139T>C (p.Leu380Pro)
c.1133T>C (p.Leu378Pro)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.119278209T>GCA382912477CBLc.*591T>G (n.*591T>G)
c.1139T>G (p.Leu380Arg)
c.1133T>G (p.Leu378Arg)
dbSNP COSMIC
11g.119278209T=CA2003905921CBLc.*591T= (n.*591T=)
c.1139T= (p.Leu380=)
c.1133T= (p.Leu378=)
11g.119278210A=CA2003905929CBLc.*592A= (n.*592A=)
c.1140A= (p.Leu380=)
c.1134A= (p.Leu378=)
11g.119278210A>CCA477135620CBLc.*592A>C (n.*592A>C)
c.1140A>C (p.Leu380=)
c.1134A>C (p.Leu378=)
ClinVar dbSNP
11g.119278210A>GCA6318438CBLc.*592A>G (n.*592A>G)
c.1140A>G (p.Leu380=)
c.1134A>G (p.Leu378=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.119278210A>TCA477135629CBLc.*592A>T (n.*592A>T)
c.1140A>T (p.Leu380=)
c.1134A>T (p.Leu378=)
dbSNP gnomAD v2 gnomAD v4
11g.119278211T>ACA382912480CBLc.*593T>A (n.*593T>A)
c.1141T>A (p.Cys381Ser)
c.1135T>A (p.Cys379Ser)
dbSNP gnomAD v2
11g.119278211T>CCA6318439CBLc.*593T>C (n.*593T>C)
c.1141T>C (p.Cys381Arg)
c.1135T>C (p.Cys379Arg)
ClinVar dbSNP ExAC gnomAD v4 COSMIC
11g.119278211T>GCA382912481CBLc.*593T>G (n.*593T>G)
c.1141T>G (p.Cys381Gly)
c.1135T>G (p.Cys379Gly)
11g.119278211T=CA2003905933CBLc.*593T= (n.*593T=)
c.1141T= (p.Cys381=)
c.1135T= (p.Cys379=)
11g.119278212G>ACA6318440CBLc.*594G>A (n.*594G>A)
c.1142G>A (p.Cys381Tyr)
c.1136G>A (p.Cys379Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.119278212G>CCA382912482CBLc.*594G>C (n.*594G>C)
c.1142G>C (p.Cys381Ser)
c.1136G>C (p.Cys379Ser)
dbSNP
11g.119278212G=CA2003905935CBLc.*594G= (n.*594G=)
c.1142G= (p.Cys381=)
c.1136G= (p.Cys379=)
11g.119278212G>TCA382912483CBLc.*594G>T (n.*594G>T)
c.1142G>T (p.Cys381Phe)
c.1136G>T (p.Cys379Phe)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.119278213T>ACA382912488CBLc.*595T>A (n.*595T>A)
c.1143T>A (p.Cys381Ter)
c.1137T>A (p.Cys379Ter)
11g.119278213T>CCA6318441CBLc.*595T>C (n.*595T>C)
c.1143T>C (p.Cys381=)
c.1137T>C (p.Cys379=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.119278213T>GCA382912495CBLc.*595T>G (n.*595T>G)
c.1143T>G (p.Cys381Trp)
c.1137T>G (p.Cys379Trp)
11g.119278213T=CA2003905937CBLc.*595T= (n.*595T=)
c.1143T= (p.Cys381=)
c.1137T= (p.Cys379=)
11g.119278214A=CA2003905939CBLc.*596A= (n.*596A=)
c.1144A= (p.Lys382=)
c.1138A= (p.Lys380=)
11g.119278214A>CCA382912498CBLc.*596A>C (n.*596A>C)
c.1144A>C (p.Lys382Gln)
c.1138A>C (p.Lys380Gln)
11g.119278214A>GCA123486CBLc.*596A>G (n.*596A>G)
c.1144A>G (p.Lys382Glu)
c.1138A>G (p.Lys380Glu)
ClinVar dbSNP gnomAD v4 COSMIC
11g.119278214A>TCA382912501CBLc.*596A>T (n.*596A>T)
c.1144A>T (p.Lys382Ter)
c.1138A>T (p.Lys380Ter)
11g.119278217dupCA2616387489CBLc.*599dup (n.*599dup)
c.1147dup (p.Ile383AsnfsTer4)
c.1141dup (p.Ile381AsnfsTer4)
gnomAD v4
11g.119278215A>CCA382912504CBLc.*597A>C (n.*597A>C)
c.1145A>C (p.Lys382Thr)
c.1139A>C (p.Lys380Thr)
gnomAD v4
11g.119278215A>GCA382912510CBLc.*597A>G (n.*597A>G)
c.1145A>G (p.Lys382Arg)
c.1139A>G (p.Lys380Arg)
ClinVar dbSNP
11g.119278215A>TCA382912509CBLc.*597A>T (n.*597A>T)
c.1145A>T (p.Lys382Ile)
c.1139A>T (p.Lys380Ile)
dbSNP
11g.119278216A>CCA382912514CBLc.*598A>C (n.*598A>C)
c.1146A>C (p.Lys382Asn)
c.1140A>C (p.Lys380Asn)
11g.119278216A>GCA477135650CBLc.*598A>G (n.*598A>G)
c.1146A>G (p.Lys382=)
c.1140A>G (p.Lys380=)
11g.119278216A>TCA382912515CBLc.*598A>T (n.*598A>T)
c.1146A>T (p.Lys382Asn)
c.1140A>T (p.Lys380Asn)
dbSNP
11g.119278217A=CA2003905942CBLc.*599A= (n.*599A=)
c.1147A= (p.Ile383=)
c.1141A= (p.Ile381=)
11g.119278217A>CCA382912518CBLc.*599A>C (n.*599A>C)
c.1147A>C (p.Ile383Leu)
c.1141A>C (p.Ile381Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.119278217A>GCA382912520CBLc.*599A>G (n.*599A>G)
c.1147A>G (p.Ile383Val)
c.1141A>G (p.Ile381Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.119278217A>TCA382912523CBLc.*599A>T (n.*599A>T)
c.1147A>T (p.Ile383Leu)
c.1141A>T (p.Ile381Leu)
dbSNP
11g.119278218T>ACA382912527CBLc.*600T>A (n.*600T>A)
c.1148T>A (p.Ile383Lys)
c.1142T>A (p.Ile381Lys)
dbSNP
11g.119278218T>CCA382912529CBLc.*600T>C (n.*600T>C)
c.1148T>C (p.Ile383Thr)
c.1142T>C (p.Ile381Thr)
ClinVar COSMIC
11g.119278218T>GCA382912533CBLc.*600T>G (n.*600T>G)
c.1148T>G (p.Ile383Arg)
c.1142T>G (p.Ile381Arg)
dbSNP
11g.119278219A>CCA477135659CBLc.*601A>C (n.*601A>C)
c.1149A>C (p.Ile383=)
c.1143A>C (p.Ile381=)
11g.119278219A>GCA382912538CBLc.*601A>G (n.*601A>G)
c.1149A>G (p.Ile383Met)
c.1143A>G (p.Ile381Met)
ClinVar dbSNP gnomAD v4 COSMIC
11g.119278219A>TCA477135660CBLc.*601A>T (n.*601A>T)
c.1149A>T (p.Ile383=)
c.1143A>T (p.Ile381=)
dbSNP
11g.119278220T>ACA382912545CBLc.*602T>A (n.*602T>A)
c.1150T>A (p.Cys384Ser)
c.1144T>A (p.Cys382Ser)
11g.119278220T>CCA128665CBLc.*602T>C (n.*602T>C)
c.1150T>C (p.Cys384Arg)
c.1144T>C (p.Cys382Arg)
ClinVar dbSNP gnomAD v4 COSMIC
11g.119278220T>GCA295987CBLc.*602T>G (n.*602T>G)
c.1150T>G (p.Cys384Gly)
c.1144T>G (p.Cys382Gly)
ClinVar dbSNP gnomAD v4
11g.119278220T=CA2003905944CBLc.*602T= (n.*602T=)
c.1150T= (p.Cys384=)
c.1144T= (p.Cys382=)
11g.119278221G>ACA229661870CBLc.*603G>A (n.*603G>A)
c.1151G>A (p.Cys384Tyr)
c.1145G>A (p.Cys382Tyr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.119278221G>CCA382912551CBLc.*603G>C (n.*603G>C)
c.1151G>C (p.Cys384Ser)
c.1145G>C (p.Cys382Ser)
dbSNP
11g.119278221G=CA2003905949CBLc.*603G= (n.*603G=)
c.1151G= (p.Cys384=)
c.1145G= (p.Cys382=)
11g.119278221G>TCA382912549CBLc.*603G>T (n.*603G>T)
c.1151G>T (p.Cys384Phe)
c.1145G>T (p.Cys382Phe)
11g.119278222T>ACA382912553CBLc.*604T>A (n.*604T>A)
c.1152T>A (p.Cys384Ter)
c.1146T>A (p.Cys382Ter)
dbSNP
11g.119278222T>CCA477135675CBLc.*604T>C (n.*604T>C)
c.1152T>C (p.Cys384=)
c.1146T>C (p.Cys382=)
11g.119278222T>GCA382912554CBLc.*604T>G (n.*604T>G)
c.1152T>G (p.Cys384Trp)
c.1146T>G (p.Cys382Trp)
dbSNP COSMIC
11g.119278223G>ACA382912558CBLc.*605G>A (n.*605G>A)
c.1153G>A (p.Ala385Thr)
c.1147G>A (p.Ala383Thr)
ClinVar dbSNP
11g.119278223G>CCA382912560CBLc.*605G>C (n.*605G>C)
c.1153G>C (p.Ala385Pro)
c.1147G>C (p.Ala383Pro)
dbSNP gnomAD v4
11g.119278223G>TCA382912562CBLc.*605G>T (n.*605G>T)
c.1153G>T (p.Ala385Ser)
c.1147G>T (p.Ala383Ser)
11g.119278224C>ACA382912564CBLc.*606C>A (n.*606C>A)
c.1154C>A (p.Ala385Asp)
c.1148C>A (p.Ala383Asp)
dbSNP
11g.119278224C>GCA382912566CBLc.*606C>G (n.*606C>G)
c.1154C>G (p.Ala385Gly)
c.1148C>G (p.Ala383Gly)
dbSNP
11g.119278224C>TCA382912567CBLc.*606C>T (n.*606C>T)
c.1154C>T (p.Ala385Val)
c.1148C>T (p.Ala383Val)
dbSNP
11g.119278225T>ACA477135684CBLc.*607T>A (n.*607T>A)
c.1155T>A (p.Ala385=)
c.1149T>A (p.Ala383=)
dbSNP
11g.119278225T>CCA477135685CBLc.*607T>C (n.*607T>C)
c.1155T>C (p.Ala385=)
c.1149T>C (p.Ala383=)
dbSNP gnomAD v4
11g.119278225T>GCA477135689CBLc.*607T>G (n.*607T>G)
c.1155T>G (p.Ala385=)
c.1149T>G (p.Ala383=)
11g.119278226G>ACA382912571CBLc.*608G>A (n.*608G>A)
c.1156G>A (p.Glu386Lys)
c.1150G>A (p.Glu384Lys)
ClinVar dbSNP gnomAD v4
11g.119278226G>CCA382912573CBLc.*608G>C (n.*608G>C)
c.1156G>C (p.Glu386Gln)
c.1150G>C (p.Glu384Gln)
11g.119278226G=CA2003905951CBLc.*608G= (n.*608G=)
c.1156G= (p.Glu386=)
c.1150G= (p.Glu384=)
11g.119278226G>TCA382912575CBLc.*608G>T (n.*608G>T)
c.1156G>T (p.Glu386Ter)
c.1150G>T (p.Glu384Ter)
11g.119278227A>CCA382912585CBLc.*609A>C (n.*609A>C)
c.1157A>C (p.Glu386Ala)
c.1151A>C (p.Glu384Ala)
11g.119278227A>GCA382912580CBLc.*609A>G (n.*609A>G)
c.1157A>G (p.Glu386Gly)
c.1151A>G (p.Glu384Gly)
11g.119278227A>TCA382912579CBLc.*609A>T (n.*609A>T)
c.1157A>T (p.Glu386Val)
c.1151A>T (p.Glu384Val)
dbSNP
11g.119278230delCA2725171835CBLc.*612del (n.*612del)
c.1160del (p.Asn387MetfsTer5)
c.1154del (p.Asn385MetfsTer5)
dbSNP
11g.119278228A=CA2003905953CBLc.*610A= (n.*610A=)
c.1158A= (p.Glu386=)
c.1152A= (p.Glu384=)
11g.119278228A>CCA382912588CBLc.*610A>C (n.*610A>C)
c.1158A>C (p.Glu386Asp)
c.1152A>C (p.Glu384Asp)
11g.119278228A>GCA6318442CBLc.*610A>G (n.*610A>G)
c.1158A>G (p.Glu386=)
c.1152A>G (p.Glu384=)
dbSNP ExAC gnomAD v2
11g.119278228A>TCA382912591CBLc.*610A>T (n.*610A>T)
c.1158A>T (p.Glu386Asp)
c.1152A>T (p.Glu384Asp)
11g.119278229A=CA2003905955CBLc.*611A= (n.*611A=)
c.1159A= (p.Asn387=)
c.1153A= (p.Asn385=)
11g.119278229A>CCA382912594CBLc.*611A>C (n.*611A>C)
c.1159A>C (p.Asn387His)
c.1153A>C (p.Asn385His)
dbSNP
11g.119278229A>GCA382912596CBLc.*611A>G (n.*611A>G)
c.1159A>G (p.Asn387Asp)
c.1153A>G (p.Asn385Asp)
11g.119278229A>TCA382912597CBLc.*611A>T (n.*611A>T)
c.1159A>T (p.Asn387Tyr)
c.1153A>T (p.Asn385Tyr)
dbSNP
11g.119278230A>CCA382912600CBLc.*612A>C (n.*612A>C)
c.1160A>C (p.Asn387Thr)
c.1154A>C (p.Asn385Thr)
11g.119278230A>GCA382912602CBLc.*612A>G (n.*612A>G)
c.1160A>G (p.Asn387Ser)
c.1154A>G (p.Asn385Ser)
dbSNP
11g.119278230A>TCA382912604CBLc.*612A>T (n.*612A>T)
c.1160A>T (p.Asn387Ile)
c.1154A>T (p.Asn385Ile)
dbSNP
11g.119278231T>ACA382912607CBLc.*613T>A (n.*613T>A)
c.1161T>A (p.Asn387Lys)
c.1155T>A (p.Asn385Lys)
dbSNP
11g.119278231T>CCA6318443CBLc.*613T>C (n.*613T>C)
c.1161T>C (p.Asn387=)
c.1155T>C (p.Asn385=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.119278231T>GCA382912611CBLc.*613T>G (n.*613T>G)
c.1161T>G (p.Asn387Lys)
c.1155T>G (p.Asn385Lys)
dbSNP
11g.119278231T=CA2003905957CBLc.*613T= (n.*613T=)
c.1161T= (p.Asn387=)
c.1155T= (p.Asn385=)
11g.119278232G>ACA382912613CBLc.*614G>A (n.*614G>A)
c.1162G>A (p.Asp388Asn)
c.1156G>A (p.Asp386Asn)
dbSNP gnomAD v2 gnomAD v4
11g.119278232G>CCA382912612CBLc.*614G>C (n.*614G>C)
c.1162G>C (p.Asp388His)
c.1156G>C (p.Asp386His)
dbSNP gnomAD v4
11g.119278232G=CA2003905959CBLc.*614G= (n.*614G=)
c.1162G= (p.Asp388=)
c.1156G= (p.Asp386=)
11g.119278232G>TCA229661880CBLc.*614G>T (n.*614G>T)
c.1162G>T (p.Asp388Tyr)
c.1156G>T (p.Asp386Tyr)
dbSNP gnomAD v3 gnomAD v4
11g.119278233delCA2695202508CBLc.*615del (n.*615del)
c.1163del (p.Asp388ValfsTer4)
c.1157del (p.Asp386ValfsTer4)
11g.119278233A>CCA382912616CBLc.*615A>C (n.*615A>C)
c.1163A>C (p.Asp388Ala)
c.1157A>C (p.Asp386Ala)
11g.119278233A>GCA382912619CBLc.*615A>G (n.*615A>G)
c.1163A>G (p.Asp388Gly)
c.1157A>G (p.Asp386Gly)
ClinVar dbSNP gnomAD v4
11g.119278233A>TCA382912620CBLc.*615A>T (n.*615A>T)
c.1163A>T (p.Asp388Val)
c.1157A>T (p.Asp386Val)
11g.119278234T>ACA382912624CBLc.*616T>A (n.*616T>A)
c.1164T>A (p.Asp388Glu)
c.1158T>A (p.Asp386Glu)
11g.119278234T>CCA477135738CBLc.*616T>C (n.*616T>C)
c.1164T>C (p.Asp388=)
c.1158T>C (p.Asp386=)
11g.119278234T>GCA382912626CBLc.*616T>G (n.*616T>G)
c.1164T>G (p.Asp388Glu)
c.1158T>G (p.Asp386Glu)
11g.119278235A=CA2003905960CBLc.*617A= (n.*617A=)
c.1165A= (p.Lys389=)
c.1159A= (p.Lys387=)
11g.119278235A>CCA382912633CBLc.*617A>C (n.*617A>C)
c.1165A>C (p.Lys389Gln)
c.1159A>C (p.Lys387Gln)
11g.119278235A>GCA16613479CBLc.*617A>G (n.*617A>G)
c.1165A>G (p.Lys389Glu)
c.1159A>G (p.Lys387Glu)
ClinVar dbSNP gnomAD v4
11g.119278235A>TCA382912628CBLc.*617A>T (n.*617A>T)
c.1165A>T (p.Lys389Ter)
c.1159A>T (p.Lys387Ter)
11g.119278236A=CA2003905963CBLc.*618A= (n.*618A=)
c.1166A= (p.Lys389=)
c.1160A= (p.Lys387=)
11g.119278236A>CCA382912636CBLc.*618A>C (n.*618A>C)
c.1166A>C (p.Lys389Thr)
c.1160A>C (p.Lys387Thr)
ClinVar dbSNP gnomAD v4
11g.119278236A>GCA382912638CBLc.*618A>G (n.*618A>G)
c.1166A>G (p.Lys389Arg)
c.1160A>G (p.Lys387Arg)
ClinVar dbSNP gnomAD v4
11g.119278236A>TCA382912642CBLc.*618A>T (n.*618A>T)
c.1166A>T (p.Lys389Met)
c.1160A>T (p.Lys387Met)
dbSNP
11g.119278237G>ACA6318444CBLc.*619G>A (n.*619G>A)
c.1167G>A (p.Lys389=)
c.1161G>A (p.Lys387=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.119278237G>CCA382912647CBLc.*619G>C (n.*619G>C)
c.1167G>C (p.Lys389Asn)
c.1161G>C (p.Lys387Asn)
ClinVar
11g.119278237G=CA2003905966CBLc.*619G= (n.*619G=)
c.1167G= (p.Lys389=)
c.1161G= (p.Lys387=)
11g.119278237G>TCA382912654CBLc.*619G>T (n.*619G>T)
c.1167G>T (p.Lys389Asn)
c.1161G>T (p.Lys387Asn)
ClinVar dbSNP COSMIC
11g.119278237_119278242dupCA645576440CBLc.*619_*624dup (n.*619_*624dup)
c.1167_1172dup (p.Val391_Lys392insAspVal)
c.1161_1166dup (p.Val389_Lys390insAspVal)
COSMIC
11g.119278238G>ACA382912657CBLc.*620G>A (n.*620G>A)
c.1168G>A (p.Asp390Asn)
c.1162G>A (p.Asp388Asn)
dbSNP
11g.119278238G>CCA382912659CBLc.*620G>C (n.*620G>C)
c.1168G>C (p.Asp390His)
c.1162G>C (p.Asp388His)
ClinVar dbSNP
11g.119278238G=CA2003905969CBLc.*620G= (n.*620G=)
c.1168G= (p.Asp390=)
c.1162G= (p.Asp388=)
11g.119278238G>TCA123488CBLc.*620G>T (n.*620G>T)
c.1168G>T (p.Asp390Tyr)
c.1162G>T (p.Asp388Tyr)
ClinVar dbSNP
11g.119278239A=CA2003905973CBLc.*621A= (n.*621A=)
c.1169A= (p.Asp390=)
c.1163A= (p.Asp388=)
11g.119278239A>CCA382912660CBLc.*621A>C (n.*621A>C)
c.1169A>C (p.Asp390Ala)
c.1163A>C (p.Asp388Ala)
11g.119278239A>GCA382912661CBLc.*621A>G (n.*621A>G)
c.1169A>G (p.Asp390Gly)
c.1163A>G (p.Asp388Gly)
dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.119278239A>TCA6318445CBLc.*621A>T (n.*621A>T)
c.1169A>T (p.Asp390Val)
c.1163A>T (p.Asp388Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.119278240T>ACA382912668CBLc.*622T>A (n.*622T>A)
c.1170T>A (p.Asp390Glu)
c.1164T>A (p.Asp388Glu)
dbSNP
11g.119278240T>CCA477135773CBLc.*622T>C (n.*622T>C)
c.1170T>C (p.Asp390=)
c.1164T>C (p.Asp388=)
dbSNP
11g.119278240T>GCA382912670CBLc.*622T>G (n.*622T>G)
c.1170T>G (p.Asp390Glu)
c.1164T>G (p.Asp388Glu)
11g.119278241G>ACA6318446CBLc.*623G>A (n.*623G>A)
c.1171G>A (p.Val391Ile)
c.1165G>A (p.Val389Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.119278241G>CCA382912672CBLc.*623G>C (n.*623G>C)
c.1171G>C (p.Val391Leu)
c.1165G>C (p.Val389Leu)
dbSNP
11g.119278241G=CA2003905977CBLc.*623G= (n.*623G=)
c.1171G= (p.Val391=)
c.1165G= (p.Val389=)
11g.119278241G>TCA382912673CBLc.*623G>T (n.*623G>T)
c.1171G>T (p.Val391Leu)
c.1165G>T (p.Val389Leu)
11g.119278242T>ACA382912674CBLc.*624T>A (n.*624T>A)
c.1172T>A (p.Val391Glu)
c.1166T>A (p.Val389Glu)
11g.119278242T>CCA382912675CBLc.*624T>C (n.*624T>C)
c.1172T>C (p.Val391Ala)
c.1166T>C (p.Val389Ala)
11g.119278242T>GCA382912676CBLc.*624T>G (n.*624T>G)
c.1172T>G (p.Val391Gly)
c.1166T>G (p.Val389Gly)
11g.119278243A=CA2003905980CBLc.*625A= (n.*625A=)
c.1173A= (p.Val391=)
c.1167A= (p.Val389=)
11g.119278243A>CCA477135796CBLc.*625A>C (n.*625A>C)
c.1173A>C (p.Val391=)
c.1167A>C (p.Val389=)
11g.119278243A>GCA477135795CBLc.*625A>G (n.*625A>G)
c.1173A>G (p.Val391=)
c.1167A>G (p.Val389=)
ClinVar dbSNP
11g.119278243A>TCA477135794CBLc.*625A>T (n.*625A>T)
c.1173A>T (p.Val391=)
c.1167A>T (p.Val389=)
dbSNP
11g.119278244A>CCA382912678CBLc.*626A>C (n.*626A>C)
c.1174A>C (p.Lys392Gln)
c.1168A>C (p.Lys390Gln)
11g.119278244A>GCA382912679CBLc.*626A>G (n.*626A>G)
c.1174A>G (p.Lys392Glu)
c.1168A>G (p.Lys390Glu)
11g.119278244A>TCA382912677CBLc.*626A>T (n.*626A>T)
c.1174A>T (p.Lys392Ter)
c.1168A>T (p.Lys390Ter)
dbSNP
11g.119278245A>CCA382912681CBLc.*627A>C (n.*627A>C)
c.1175A>C (p.Lys392Thr)
c.1169A>C (p.Lys390Thr)
11g.119278245A>GCA382912680CBLc.*627A>G (n.*627A>G)
c.1175A>G (p.Lys392Arg)
c.1169A>G (p.Lys390Arg)
11g.119278245A>TCA382912682CBLc.*627A>T (n.*627A>T)
c.1175A>T (p.Lys392Met)
c.1169A>T (p.Lys390Met)
ClinVar dbSNP
11g.119278249_119278477delCA645576441CBLc.*631_*680-33del
c.1179_1228-33del
c.1173_1222-33del
COSMIC
11g.119278246G>ACA477135806CBLc.*628G>A (n.*628G>A)
c.1176G>A (p.Lys392=)
c.1170G>A (p.Lys390=)
dbSNP
11g.119278246G>CCA382912683CBLc.*628G>C (n.*628G>C)
c.1176G>C (p.Lys392Asn)
c.1170G>C (p.Lys390Asn)
dbSNP
11g.119278246G>TCA382912684CBLc.*628G>T (n.*628G>T)
c.1176G>T (p.Lys392Asn)
c.1170G>T (p.Lys390Asn)
gnomAD v4
11g.119278247A>CCA382912685CBLc.*629A>C (n.*629A>C)
c.1177A>C (p.Ile393Leu)
c.1171A>C (p.Ile391Leu)
dbSNP
11g.119278247A>GCA382912686CBLc.*629A>G (n.*629A>G)
c.1177A>G (p.Ile393Val)
c.1171A>G (p.Ile391Val)
11g.119278247A>TCA382912687CBLc.*629A>T (n.*629A>T)
c.1177A>T (p.Ile393Phe)
c.1171A>T (p.Ile391Phe)
dbSNP
11g.119278248T>ACA382912688CBLc.*630T>A (n.*630T>A)
c.1178T>A (p.Ile393Asn)
c.1172T>A (p.Ile391Asn)
ClinVar dbSNP COSMIC
11g.119278248T>CCA6318447CBLc.*630T>C (n.*630T>C)
c.1178T>C (p.Ile393Thr)
c.1172T>C (p.Ile391Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.119278248T>GCA382912689CBLc.*630T>G (n.*630T>G)
c.1178T>G (p.Ile393Ser)
c.1172T>G (p.Ile391Ser)
dbSNP gnomAD v4
11g.119278248T=CA2003905983CBLc.*630T= (n.*630T=)
c.1178T= (p.Ile393=)
c.1172T= (p.Ile391=)
11g.119278248_119278249delinsGACA645576442CBLc.*630_*631delinsGA (n.*630_*631delinsGA)
c.1178_1179delinsGA (p.Ile393Arg)
c.1172_1173delinsGA (p.Ile391Arg)
COSMIC
11g.119278248_119278256delCA2575031878CBLc.*630_*638del (n.*630_*638del)
c.1178_1186del (p.Ile393_Cys396delinsSer)
c.1172_1180del (p.Ile391_Cys394delinsSer)
11g.119278249T>ACA477135819CBLc.*631T>A (n.*631T>A)
c.1179T>A (p.Ile393=)
c.1173T>A (p.Ile391=)
dbSNP
11g.119278249T>CCA477135827CBLc.*631T>C (n.*631T>C)
c.1179T>C (p.Ile393=)
c.1173T>C (p.Ile391=)
11g.119278249T>GCA382912690CBLc.*631T>G (n.*631T>G)
c.1179T>G (p.Ile393Met)
c.1173T>G (p.Ile391Met)
11g.119278250G>ACA382912691CBLc.*632G>A (n.*632G>A)
c.1180G>A (p.Glu394Lys)
c.1174G>A (p.Glu392Lys)
dbSNP
11g.119278250G>CCA382912692CBLc.*632G>C (n.*632G>C)
c.1180G>C (p.Glu394Gln)
c.1174G>C (p.Glu392Gln)
dbSNP
11g.119278250G>TCA382912693CBLc.*632G>T (n.*632G>T)
c.1180G>T (p.Glu394Ter)
c.1174G>T (p.Glu392Ter)
11g.119278251A>CCA382912696CBLc.*633A>C (n.*633A>C)
c.1181A>C (p.Glu394Ala)
c.1175A>C (p.Glu392Ala)
dbSNP
11g.119278251A>GCA382912694CBLc.*633A>G (n.*633A>G)
c.1181A>G (p.Glu394Gly)
c.1175A>G (p.Glu392Gly)
dbSNP
11g.119278251A>TCA382912695CBLc.*633A>T (n.*633A>T)
c.1181A>T (p.Glu394Val)
c.1175A>T (p.Glu392Val)
dbSNP
11g.119278252G>ACA6318448CBLc.*634G>A (n.*634G>A)
c.1182G>A (p.Glu394=)
c.1176G>A (p.Glu392=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.119278252G>CCA382912697CBLc.*634G>C (n.*634G>C)
c.1182G>C (p.Glu394Asp)
c.1176G>C (p.Glu392Asp)
dbSNP
11g.119278252G=CA2003905986CBLc.*634G= (n.*634G=)
c.1182G= (p.Glu394=)
c.1176G= (p.Glu392=)
11g.119278252G>TCA382912698CBLc.*634G>T (n.*634G>T)
c.1182G>T (p.Glu394Asp)
c.1176G>T (p.Glu392Asp)
11g.119278253C>ACA382912700CBLc.*635C>A (n.*635C>A)
c.1183C>A (p.Pro395Thr)
c.1177C>A (p.Pro393Thr)
dbSNP
11g.119278253C>GCA382912702CBLc.*635C>G (n.*635C>G)
c.1183C>G (p.Pro395Ala)
c.1177C>G (p.Pro393Ala)
dbSNP COSMIC
11g.119278253C>TCA382912704CBLc.*635C>T (n.*635C>T)
c.1183C>T (p.Pro395Ser)
c.1177C>T (p.Pro393Ser)
ClinVar dbSNP gnomAD v4
11g.119278254C>ACA382912706CBLc.*636C>A (n.*636C>A)
c.1184C>A (p.Pro395His)
c.1178C>A (p.Pro393His)
dbSNP
11g.119278254C>GCA382912708CBLc.*636C>G (n.*636C>G)
c.1184C>G (p.Pro395Arg)
c.1178C>G (p.Pro393Arg)
dbSNP
11g.119278254C>TCA382912712CBLc.*636C>T (n.*636C>T)
c.1184C>T (p.Pro395Leu)
c.1178C>T (p.Pro393Leu)
dbSNP COSMIC
11g.119278255C>ACA477135867CBLc.*637C>A (n.*637C>A)
c.1185C>A (p.Pro395=)
c.1179C>A (p.Pro393=)
dbSNP
11g.119278255C>GCA477135872CBLc.*637C>G (n.*637C>G)
c.1185C>G (p.Pro395=)
c.1179C>G (p.Pro393=)
dbSNP
11g.119278255C>TCA477135870CBLc.*637C>T (n.*637C>T)
c.1185C>T (p.Pro395=)
c.1179C>T (p.Pro393=)
dbSNP
11g.119278256T>ACA382912715CBLc.*638T>A (n.*638T>A)
c.1186T>A (p.Cys396Ser)
c.1180T>A (p.Cys394Ser)
dbSNP gnomAD v4
11g.119278256T>CCA128668CBLc.*638T>C (n.*638T>C)
c.1186T>C (p.Cys396Arg)
c.1180T>C (p.Cys394Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.119278256T>GCA382912721CBLc.*638T>G (n.*638T>G)
c.1186T>G (p.Cys396Gly)
c.1180T>G (p.Cys394Gly)
dbSNP gnomAD v4 COSMIC
11g.119278256T=CA2003905990CBLc.*638T= (n.*638T=)
c.1186T= (p.Cys396=)
c.1180T= (p.Cys394=)
11g.119278257G>ACA382912724CBLc.*639G>A (n.*639G>A)
c.1187G>A (p.Cys396Tyr)
c.1181G>A (p.Cys394Tyr)
ClinVar dbSNP gnomAD v4 COSMIC
11g.119278257G>CCA382912725CBLc.*639G>C (n.*639G>C)
c.1187G>C (p.Cys396Ser)
c.1181G>C (p.Cys394Ser)
dbSNP COSMIC
11g.119278257G=CA2003905994CBLc.*639G= (n.*639G=)
c.1187G= (p.Cys396=)
c.1181G= (p.Cys394=)
11g.119278257G>TCA382912723CBLc.*639G>T (n.*639G>T)
c.1187G>T (p.Cys396Phe)
c.1181G>T (p.Cys394Phe)
dbSNP
11g.119278258T>ACA382912727CBLc.*640T>A (n.*640T>A)
c.1188T>A (p.Cys396Ter)
c.1182T>A (p.Cys394Ter)
11g.119278258T>CCA477135891CBLc.*640T>C (n.*640T>C)
c.1188T>C (p.Cys396=)
c.1182T>C (p.Cys394=)
COSMIC
11g.119278258T>GCA382912729CBLc.*640T>G (n.*640T>G)
c.1188T>G (p.Cys396Trp)
c.1182T>G (p.Cys394Trp)
11g.119278258T=CA2003905997CBLc.*640T= (n.*640T=)
c.1188T= (p.Cys396=)
c.1182T= (p.Cys394=)
11g.119278259G>ACA382912730CBLc.*641G>A (n.*641G>A)
c.1189G>A (p.Gly397Arg)
c.1183G>A (p.Gly395Arg)
dbSNP gnomAD v2 gnomAD v4
11g.119278259G>CCA382912736CBLc.*641G>C (n.*641G>C)
c.1189G>C (p.Gly397Arg)
c.1183G>C (p.Gly395Arg)
dbSNP
11g.119278259G=CA2003906000CBLc.*641G= (n.*641G=)
c.1189G= (p.Gly397=)
c.1183G= (p.Gly395=)
11g.119278259G>TCA382912738CBLc.*641G>T (n.*641G>T)
c.1189G>T (p.Gly397Ter)
c.1183G>T (p.Gly395Ter)
dbSNP
11g.119278260dupCA2003905999CBLc.*642dup (n.*642dup)
c.1190dup (p.His398ThrfsTer25)
c.1184dup (p.His396ThrfsTer25)
dbSNP
11g.119278260_119278570delCA645576443CBLc.*642_*740del
c.1190_1288del
c.1184_1282del
COSMIC
11g.119278260G>ACA6318449CBLc.*642G>A (n.*642G>A)
c.1190G>A (p.Gly397Glu)
c.1184G>A (p.Gly395Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.119278260G>CCA382912746CBLc.*642G>C (n.*642G>C)
c.1190G>C (p.Gly397Ala)
c.1184G>C (p.Gly395Ala)
dbSNP
11g.119278260G=CA2003906007CBLc.*642G= (n.*642G=)
c.1190G= (p.Gly397=)
c.1184G= (p.Gly395=)
11g.119278260G>TCA382912747CBLc.*642G>T (n.*642G>T)
c.1190G>T (p.Gly397Val)
c.1184G>T (p.Gly395Val)
dbSNP gnomAD v4 COSMIC
11g.119278261A=CA2003906011CBLc.*643A= (n.*643A=)
c.1191A= (p.Gly397=)
c.1185A= (p.Gly395=)
11g.119278261A>CCA477135930CBLc.*643A>C (n.*643A>C)
c.1191A>C (p.Gly397=)
c.1185A>C (p.Gly395=)
dbSNP
11g.119278261A>GCA6318450CBLc.*643A>G (n.*643A>G)
c.1191A>G (p.Gly397=)
c.1185A>G (p.Gly395=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.119278261A>TCA477135936CBLc.*643A>T (n.*643A>T)
c.1191A>T (p.Gly397=)
c.1185A>T (p.Gly395=)
dbSNP
11g.119278262C>ACA382912750CBLc.*644C>A (n.*644C>A)
c.1192C>A (p.His398Asn)
c.1186C>A (p.His396Asn)
dbSNP gnomAD v4
11g.119278262C=CA2003906012CBLc.*644C= (n.*644C=)
c.1192C= (p.His398=)
c.1186C= (p.His396=)
11g.119278262C>GCA382912751CBLc.*644C>G (n.*644C>G)
c.1192C>G (p.His398Asp)
c.1186C>G (p.His396Asp)
dbSNP
11g.119278262C>TCA229661898CBLc.*644C>T (n.*644C>T)
c.1192C>T (p.His398Tyr)
c.1186C>T (p.His396Tyr)
ClinVar dbSNP gnomAD v4 COSMIC
11g.119278263A=CA2003906019CBLc.*645A= (n.*645A=)
c.1193A= (p.His398=)
c.1187A= (p.His396=)
11g.119278263A>CCA382912753CBLc.*645A>C (n.*645A>C)
c.1193A>C (p.His398Pro)
c.1187A>C (p.His396Pro)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.119278263A>GCA382912755CBLc.*645A>G (n.*645A>G)
c.1193A>G (p.His398Arg)
c.1187A>G (p.His396Arg)
ClinVar dbSNP gnomAD v4 COSMIC
11g.119278263A>TCA382912752CBLc.*645A>T (n.*645A>T)
c.1193A>T (p.His398Leu)
c.1187A>T (p.His396Leu)
dbSNP
11g.119278264C>ACA382912756CBLc.*646C>A (n.*646C>A)
c.1194C>A (p.His398Gln)
c.1188C>A (p.His396Gln)
dbSNP COSMIC
11g.119278264C>GCA382912757CBLc.*646C>G (n.*646C>G)
c.1194C>G (p.His398Gln)
c.1188C>G (p.His396Gln)
dbSNP
11g.119278264C>TCA477135965CBLc.*646C>T (n.*646C>T)
c.1194C>T (p.His398=)
c.1188C>T (p.His396=)
dbSNP
11g.119278265C>ACA382912758CBLc.*647C>A (n.*647C>A)
c.1195C>A (p.Leu399Ile)
c.1189C>A (p.Leu397Ile)
dbSNP gnomAD v4
11g.119278265C>GCA382912760CBLc.*647C>G (n.*647C>G)
c.1195C>G (p.Leu399Val)
c.1189C>G (p.Leu397Val)
dbSNP gnomAD v4 COSMIC
11g.119278265C>TCA382912761CBLc.*647C>T (n.*647C>T)
c.1195C>T (p.Leu399Phe)
c.1189C>T (p.Leu397Phe)
ClinVar dbSNP gnomAD v4
11g.119278266T>ACA382912764CBLc.*648T>A (n.*648T>A)
c.1196T>A (p.Leu399His)
c.1190T>A (p.Leu397His)
ClinVar gnomAD v4 COSMIC
11g.119278266T>CCA382912763CBLc.*648T>C (n.*648T>C)
c.1196T>C (p.Leu399Pro)
c.1190T>C (p.Leu397Pro)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.119278266T>GCA382912762CBLc.*648T>G (n.*648T>G)
c.1196T>G (p.Leu399Arg)
c.1190T>G (p.Leu397Arg)
11g.119278266T=CA2003906023CBLc.*648T= (n.*648T=)
c.1196T= (p.Leu399=)
c.1190T= (p.Leu397=)
11g.119278267C>ACA477135993CBLc.*649C>A (n.*649C>A)
c.1197C>A (p.Leu399=)
c.1191C>A (p.Leu397=)
ClinVar gnomAD v4
11g.119278267C>GCA477135996CBLc.*649C>G (n.*649C>G)
c.1197C>G (p.Leu399=)
c.1191C>G (p.Leu397=)
dbSNP
11g.119278267C>TCA477136001CBLc.*649C>T (n.*649C>T)
c.1197C>T (p.Leu399=)
c.1191C>T (p.Leu397=)
dbSNP gnomAD v4
11g.119278268A=CA2003906027CBLc.*650A= (n.*650A=)
c.1198A= (p.Met400=)
c.1192A= (p.Met398=)
11g.119278268A>CCA382912765CBLc.*650A>C (n.*650A>C)
c.1198A>C (p.Met400Leu)
c.1192A>C (p.Met398Leu)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.119278268A>GCA382912767CBLc.*650A>G (n.*650A>G)
c.1198A>G (p.Met400Val)
c.1192A>G (p.Met398Val)
ClinVar dbSNP gnomAD v4 COSMIC
11g.119278268A>TCA229661901CBLc.*650A>T (n.*650A>T)
c.1198A>T (p.Met400Leu)
c.1192A>T (p.Met398Leu)
ClinVar dbSNP gnomAD v4
11g.119278269T>ACA382912771CBLc.*651T>A (n.*651T>A)
c.1199T>A (p.Met400Lys)
c.1193T>A (p.Met398Lys)
dbSNP gnomAD v4
11g.119278269T>CCA382912773CBLc.*651T>C (n.*651T>C)
c.1199T>C (p.Met400Thr)
c.1193T>C (p.Met398Thr)
ClinVar dbSNP gnomAD v4
11g.119278269T>GCA282021CBLc.*651T>G (n.*651T>G)
c.1199T>G (p.Met400Arg)
c.1193T>G (p.Met398Arg)
ClinVar dbSNP gnomAD v4 COSMIC
11g.119278269T=CA2003906033CBLc.*651T= (n.*651T=)
c.1199T= (p.Met400=)
c.1193T= (p.Met398=)
11g.119278270G>ACA382912781CBLc.*652G>A (n.*652G>A)
c.1200G>A (p.Met400Ile)
c.1194G>A (p.Met398Ile)
dbSNP gnomAD v4
11g.119278270G>CCA382912779CBLc.*652G>C (n.*652G>C)
c.1200G>C (p.Met400Ile)
c.1194G>C (p.Met398Ile)
dbSNP
11g.119278270G>TCA382912777CBLc.*652G>T (n.*652G>T)
c.1200G>T (p.Met400Ile)
c.1194G>T (p.Met398Ile)
11g.119278271T>ACA382912786CBLc.*653T>A (n.*653T>A)
c.1201T>A (p.Cys401Ser)
c.1195T>A (p.Cys399Ser)
dbSNP COSMIC
11g.119278271T>CCA282024CBLc.*653T>C (n.*653T>C)
c.1201T>C (p.Cys401Arg)
c.1195T>C (p.Cys399Arg)
ClinVar dbSNP
11g.119278271T>GCA382912788CBLc.*653T>G (n.*653T>G)
c.1201T>G (p.Cys401Gly)
c.1195T>G (p.Cys399Gly)
dbSNP COSMIC
11g.119278271T=CA2003906036CBLc.*653T= (n.*653T=)
c.1201T= (p.Cys401=)
c.1195T= (p.Cys399=)
11g.119278272G>ACA382912791CBLc.*654G>A (n.*654G>A)
c.1202G>A (p.Cys401Tyr)
c.1196G>A (p.Cys399Tyr)
dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.119278272G>CCA382912794CBLc.*654G>C (n.*654G>C)
c.1202G>C (p.Cys401Ser)
c.1196G>C (p.Cys399Ser)
dbSNP COSMIC
11g.119278272G=CA2003906046CBLc.*654G= (n.*654G=)
c.1202G= (p.Cys401=)
c.1196G= (p.Cys399=)
11g.119278272G>TCA382912797CBLc.*654G>T (n.*654G>T)
c.1202G>T (p.Cys401Phe)
c.1196G>T (p.Cys399Phe)
ClinVar dbSNP gnomAD v4 COSMIC
11g.119278273delCA645576444CBLc.*655del (n.*655del)
c.1203del (p.Cys401Ter)
c.1197del (p.Cys399Ter)
COSMIC
11g.119278273C>ACA382912804CBLc.*655C>A (n.*655C>A)
c.1203C>A (p.Cys401Ter)
c.1197C>A (p.Cys399Ter)
11g.119278273C>GCA382912815CBLc.*655C>G (n.*655C>G)
c.1203C>G (p.Cys401Trp)
c.1197C>G (p.Cys399Trp)
11g.119278273C>TCA477136049CBLc.*655C>T (n.*655C>T)
c.1203C>T (p.Cys401=)
c.1197C>T (p.Cys399=)
11g.119278274delCA477136052CBLc.*656del (n.*656del)
c.1204del (p.Thr402HisfsTer30)
c.1198del (p.Thr400HisfsTer30)
COSMIC
11g.119278274A>CCA382912816CBLc.*656A>C (n.*656A>C)
c.1204A>C (p.Thr402Pro)
c.1198A>C (p.Thr400Pro)
dbSNP
11g.119278274A>GCA382912818CBLc.*656A>G (n.*656A>G)
c.1204A>G (p.Thr402Ala)
c.1198A>G (p.Thr400Ala)
11g.119278274A>TCA382912820CBLc.*656A>T (n.*656A>T)
c.1204A>T (p.Thr402Ser)
c.1198A>T (p.Thr400Ser)
dbSNP
11g.119278282_119278293dupCA2573053445CBLc.*664_*675dup (n.*664_*675dup)
c.1212_1223dup (p.Ser407_Trp408insCysLeuThrSer)
c.1206_1217dup (p.Ser405_Trp406insCysLeuThrSer)
ClinVar dbSNP gnomAD v4
11g.119278282_119278293delCA2793839083CBLc.*664_*675del (n.*664_*675del)
c.1212_1223del (p.Cys404_Ser407del)
c.1206_1217del (p.Cys402_Ser405del)

Number of alleles fetched