Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.119277742_119277752delCA2573320397CBLc.*460-15_*460-5del (n.*460-15_*460-5del)
c.1008-15_1008-5del (n.1008-15_1008-5del)
c.1002-15_1002-5del (n.1002-15_1002-5del)
11g.119277752T>ACA2793839032CBLc.*460-5T>A (n.*460-5T>A)
c.1008-5T>A (n.1008-5T>A)
c.1002-5T>A (n.1002-5T>A)
11g.119277752T>CCA6318409CBLc.*460-5T>C (n.*460-5T>C)
c.1008-5T>C (n.1008-5T>C)
c.1002-5T>C (n.1002-5T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.119277752T=CA2003905142CBLc.*460-5T= (n.*460-5T=)
c.1008-5T= (n.1008-5T=)
c.1002-5T= (n.1002-5T=)
11g.119277754C=CA2003905145CBLc.*460-3C= (n.*460-3C=)
c.1008-3C= (n.1008-3C=)
c.1002-3C= (n.1002-3C=)
11g.119277754C>TCA6318410CBLc.*460-3C>T (n.*460-3C>T)
c.1008-3C>T (n.1008-3C>T)
c.1002-3C>T (n.1002-3C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.119277755A>CCA382911776CBLc.*460-2A>C (n.*460-2A>C)
c.1008-2A>C (n.1008-2A>C)
c.1002-2A>C (n.1002-2A>C)
11g.119277755A>GCA382911778CBLc.*460-2A>G (n.*460-2A>G)
c.1008-2A>G (n.1008-2A>G)
c.1002-2A>G (n.1002-2A>G)
11g.119277755A>TCA382911780CBLc.*460-2A>T (n.*460-2A>T)
c.1008-2A>T (n.1008-2A>T)
c.1002-2A>T (n.1002-2A>T)
11g.119277756G>ACA382911781CBLc.*460-1G>A (n.*460-1G>A)
c.1008-1G>A (n.1008-1G>A)
c.1002-1G>A (n.1002-1G>A)
11g.119277756G>CCA382911783CBLc.*460-1G>C (n.*460-1G>C)
c.1008-1G>C (n.1008-1G>C)
c.1002-1G>C (n.1002-1G>C)
11g.119277756G>TCA382911785CBLc.*460-1G>T (n.*460-1G>T)
c.1008-1G>T (n.1008-1G>T)
c.1002-1G>T (n.1002-1G>T)
11g.119277757C>ACA382911788CBLc.*460C>A (n.*460C>A)
c.1008C>A (p.Phe336Leu)
c.1002C>A (p.Phe334Leu)
 gnomAD v4
11g.119277757C>GCA382911787CBLc.*460C>G (n.*460C>G)
c.1008C>G (p.Phe336Leu)
c.1002C>G (p.Phe334Leu)
11g.119277757C>TCA477133960CBLc.*460C>T (n.*460C>T)
c.1008C>T (p.Phe336=)
c.1002C>T (p.Phe334=)
11g.119277758T>ACA382911790CBLc.*461T>A (n.*461T>A)
c.1009T>A (p.Tyr337Asn)
c.1003T>A (p.Tyr335Asn)
11g.119277758T>CCA382911793CBLc.*461T>C (n.*461T>C)
c.1009T>C (p.Tyr337His)
c.1003T>C (p.Tyr335His)
 dbSNP
11g.119277758T>GCA382911792CBLc.*461T>G (n.*461T>G)
c.1009T>G (p.Tyr337Asp)
c.1003T>G (p.Tyr335Asp)
11g.119277758T=CA2003905149CBLc.*461T= (n.*461T=)
c.1009T= (p.Tyr337=)
c.1003T= (p.Tyr335=)
11g.119277759A=CA2003905153CBLc.*462A= (n.*462A=)
c.1010A= (p.Tyr337=)
c.1004A= (p.Tyr335=)
11g.119277759A>CCA382911795CBLc.*462A>C (n.*462A>C)
c.1010A>C (p.Tyr337Ser)
c.1004A>C (p.Tyr335Ser)
11g.119277759A>GCA382911796CBLc.*462A>G (n.*462A>G)
c.1010A>G (p.Tyr337Cys)
c.1004A>G (p.Tyr335Cys)
 COSMIC
11g.119277759A>TCA382911797CBLc.*462A>T (n.*462A>T)
c.1010A>T (p.Tyr337Phe)
c.1004A>T (p.Tyr335Phe)
 dbSNP
11g.119277760T>ACA382911798CBLc.*463T>A (n.*463T>A)
c.1011T>A (p.Tyr337Ter)
c.1005T>A (p.Tyr335Ter)
11g.119277760T>CCA477133986CBLc.*463T>C (n.*463T>C)
c.1011T>C (p.Tyr337=)
c.1005T>C (p.Tyr335=)
11g.119277760T>GCA382911800CBLc.*463T>G (n.*463T>G)
c.1011T>G (p.Tyr337Ter)
c.1005T>G (p.Tyr335Ter)
11g.119277761T>ACA382911801CBLc.*464T>A (n.*464T>A)
c.1012T>A (p.Leu338Met)
c.1006T>A (p.Leu336Met)
11g.119277761T>CCA477133994CBLc.*464T>C (n.*464T>C)
c.1012T>C (p.Leu338=)
c.1006T>C (p.Leu336=)
 COSMIC
11g.119277761T>GCA382911803CBLc.*464T>G (n.*464T>G)
c.1012T>G (p.Leu338Val)
c.1006T>G (p.Leu336Val)
11g.119277762T>ACA382911804CBLc.*465T>A (n.*465T>A)
c.1013T>A (p.Leu338Ter)
c.1007T>A (p.Leu336Ter)
11g.119277762T>CCA382911806CBLc.*465T>C (n.*465T>C)
c.1013T>C (p.Leu338Ser)
c.1007T>C (p.Leu336Ser)
11g.119277762T>GCA382911808CBLc.*465T>G (n.*465T>G)
c.1013T>G (p.Leu338Trp)
c.1007T>G (p.Leu336Trp)
11g.119277763G>ACA477134004CBLc.*466G>A (n.*466G>A)
c.1014G>A (p.Leu338=)
c.1008G>A (p.Leu336=)
 dbSNP gnomAD v4
11g.119277763G>CCA382911810CBLc.*466G>C (n.*466G>C)
c.1014G>C (p.Leu338Phe)
c.1008G>C (p.Leu336Phe)
11g.119277763G=CA2003905156CBLc.*466G= (n.*466G=)
c.1014G= (p.Leu338=)
c.1008G= (p.Leu336=)
11g.119277763G>TCA382911811CBLc.*466G>T (n.*466G>T)
c.1014G>T (p.Leu338Phe)
c.1008G>T (p.Leu336Phe)
11g.119277764T>ACA382911816CBLc.*467T>A (n.*467T>A)
c.1015T>A (p.Phe339Ile)
c.1009T>A (p.Phe337Ile)
11g.119277764T>CCA382911813CBLc.*467T>C (n.*467T>C)
c.1015T>C (p.Phe339Leu)
c.1009T>C (p.Phe337Leu)
11g.119277764T>GCA382911814CBLc.*467T>G (n.*467T>G)
c.1015T>G (p.Phe339Val)
c.1009T>G (p.Phe337Val)
11g.119277765T>ACA382911817CBLc.*468T>A (n.*468T>A)
c.1016T>A (p.Phe339Tyr)
c.1010T>A (p.Phe337Tyr)
11g.119277765T>CCA382911818CBLc.*468T>C (n.*468T>C)
c.1016T>C (p.Phe339Ser)
c.1010T>C (p.Phe337Ser)
11g.119277765T>GCA382911820CBLc.*468T>G (n.*468T>G)
c.1016T>G (p.Phe339Cys)
c.1010T>G (p.Phe337Cys)
11g.119277766T>ACA382911822CBLc.*469T>A (n.*469T>A)
c.1017T>A (p.Phe339Leu)
c.1011T>A (p.Phe337Leu)
11g.119277766T>CCA477134017CBLc.*469T>C (n.*469T>C)
c.1017T>C (p.Phe339=)
c.1011T>C (p.Phe337=)
11g.119277766T>GCA382911824CBLc.*469T>G (n.*469T>G)
c.1017T>G (p.Phe339Leu)
c.1011T>G (p.Phe337Leu)
11g.119277767C>ACA382911825CBLc.*470C>A (n.*470C>A)
c.1018C>A (p.Pro340Thr)
c.1012C>A (p.Pro338Thr)
11g.119277767C>GCA382911826CBLc.*470C>G (n.*470C>G)
c.1018C>G (p.Pro340Ala)
c.1012C>G (p.Pro338Ala)
11g.119277767C>TCA382911829CBLc.*470C>T (n.*470C>T)
c.1018C>T (p.Pro340Ser)
c.1012C>T (p.Pro338Ser)
11g.119277768C>ACA382911830CBLc.*471C>A (n.*471C>A)
c.1019C>A (p.Pro340His)
c.1013C>A (p.Pro338His)
11g.119277768C>GCA382911832CBLc.*471C>G (n.*471C>G)
c.1019C>G (p.Pro340Arg)
c.1013C>G (p.Pro338Arg)
11g.119277768C>TCA382911833CBLc.*471C>T (n.*471C>T)
c.1019C>T (p.Pro340Leu)
c.1013C>T (p.Pro338Leu)
 dbSNP COSMIC
11g.119277769T>ACA477134052CBLc.*472T>A (n.*472T>A)
c.1020T>A (p.Pro340=)
c.1014T>A (p.Pro338=)
11g.119277769T>CCA477134053CBLc.*472T>C (n.*472T>C)
c.1020T>C (p.Pro340=)
c.1014T>C (p.Pro338=)
11g.119277769T>GCA477134054CBLc.*472T>G (n.*472T>G)
c.1020T>G (p.Pro340=)
c.1014T>G (p.Pro338=)
11g.119277770G>ACA382911837CBLc.*473G>A (n.*473G>A)
c.1021G>A (p.Asp341Asn)
c.1015G>A (p.Asp339Asn)
11g.119277770G>CCA382911838CBLc.*473G>C (n.*473G>C)
c.1021G>C (p.Asp341His)
c.1015G>C (p.Asp339His)
11g.119277770G>TCA382911835CBLc.*473G>T (n.*473G>T)
c.1021G>T (p.Asp341Tyr)
c.1015G>T (p.Asp339Tyr)
11g.119277771A>CCA382911840CBLc.*474A>C (n.*474A>C)
c.1022A>C (p.Asp341Ala)
c.1016A>C (p.Asp339Ala)
11g.119277771A>GCA382911841CBLc.*474A>G (n.*474A>G)
c.1022A>G (p.Asp341Gly)
c.1016A>G (p.Asp339Gly)
 COSMIC
11g.119277771A>TCA382911842CBLc.*474A>T (n.*474A>T)
c.1022A>T (p.Asp341Val)
c.1016A>T (p.Asp339Val)
11g.119277772T>ACA382911844CBLc.*475T>A (n.*475T>A)
c.1023T>A (p.Asp341Glu)
c.1017T>A (p.Asp339Glu)
11g.119277772T>CCA477134062CBLc.*475T>C (n.*475T>C)
c.1023T>C (p.Asp341=)
c.1017T>C (p.Asp339=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.119277772T>GCA382911846CBLc.*475T>G (n.*475T>G)
c.1023T>G (p.Asp341Glu)
c.1017T>G (p.Asp339Glu)
 gnomAD v4
11g.119277772T=CA2003905162CBLc.*475T= (n.*475T=)
c.1023T= (p.Asp341=)
c.1017T= (p.Asp339=)
11g.119277773G>ACA382911848CBLc.*476G>A (n.*476G>A)
c.1024G>A (p.Gly342Arg)
c.1018G>A (p.Gly340Arg)
11g.119277773G>CCA382911849CBLc.*476G>C (n.*476G>C)
c.1024G>C (p.Gly342Arg)
c.1018G>C (p.Gly340Arg)
11g.119277773G>TCA382911851CBLc.*476G>T (n.*476G>T)
c.1024G>T (p.Gly342Ter)
c.1018G>T (p.Gly340Ter)
11g.119277774G>ACA382911852CBLc.*477G>A (n.*477G>A)
c.1025G>A (p.Gly342Glu)
c.1019G>A (p.Gly340Glu)
11g.119277774G>CCA382911854CBLc.*477G>C (n.*477G>C)
c.1025G>C (p.Gly342Ala)
c.1019G>C (p.Gly340Ala)
11g.119277774G>TCA382911855CBLc.*477G>T (n.*477G>T)
c.1025G>T (p.Gly342Val)
c.1019G>T (p.Gly340Val)
11g.119277775A>CCA477134080CBLc.*478A>C (n.*478A>C)
c.1026A>C (p.Gly342=)
c.1020A>C (p.Gly340=)
11g.119277775A>GCA477134083CBLc.*478A>G (n.*478A>G)
c.1026A>G (p.Gly342=)
c.1020A>G (p.Gly340=)
11g.119277775A>TCA477134093CBLc.*478A>T (n.*478A>T)
c.1026A>T (p.Gly342=)
c.1020A>T (p.Gly340=)
11g.119277776C>ACA477134094CBLc.*479C>A (n.*479C>A)
c.1027C>A (p.Arg343=)
c.1021C>A (p.Arg341=)
11g.119277776C=CA2003905167CBLc.*479C= (n.*479C=)
c.1027C= (p.Arg343=)
c.1021C= (p.Arg341=)
11g.119277776C>GCA6318411CBLc.*479C>G (n.*479C>G)
c.1027C>G (p.Arg343Gly)
c.1021C>G (p.Arg341Gly)
 ClinVar dbSNP ExAC gnomAD v4
11g.119277776C>TCA6318412CBLc.*479C>T (n.*479C>T)
c.1027C>T (p.Arg343Ter)
c.1021C>T (p.Arg341Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.119277777G>ACA6318413CBLc.*480G>A (n.*480G>A)
c.1028G>A (p.Arg343Gln)
c.1022G>A (p.Arg341Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.119277777G>CCA382911860CBLc.*480G>C (n.*480G>C)
c.1028G>C (p.Arg343Pro)
c.1022G>C (p.Arg341Pro)
11g.119277777G=CA2003905176CBLc.*480G= (n.*480G=)
c.1028G= (p.Arg343=)
c.1022G= (p.Arg341=)
11g.119277777G>TCA382911858CBLc.*480G>T (n.*480G>T)
c.1028G>T (p.Arg343Leu)
c.1022G>T (p.Arg341Leu)
 gnomAD v4
11g.119277778A=CA2003905182CBLc.*481A= (n.*481A=)
c.1029A= (p.Arg343=)
c.1023A= (p.Arg341=)
11g.119277778A>CCA477134101CBLc.*481A>C (n.*481A>C)
c.1029A>C (p.Arg343=)
c.1023A>C (p.Arg341=)
11g.119277778A>GCA477134107CBLc.*481A>G (n.*481A>G)
c.1029A>G (p.Arg343=)
c.1023A>G (p.Arg341=)
 dbSNP gnomAD v2
11g.119277778A>TCA477134100CBLc.*481A>T (n.*481A>T)
c.1029A>T (p.Arg343=)
c.1023A>T (p.Arg341=)
11g.119277779A>CCA382911862CBLc.*482A>C (n.*482A>C)
c.1030A>C (p.Asn344His)
c.1024A>C (p.Asn342His)
11g.119277779A>GCA382911864CBLc.*482A>G (n.*482A>G)
c.1030A>G (p.Asn344Asp)
c.1024A>G (p.Asn342Asp)
11g.119277779A>TCA382911866CBLc.*482A>T (n.*482A>T)
c.1030A>T (p.Asn344Tyr)
c.1024A>T (p.Asn342Tyr)
11g.119277780A=CA2003905190CBLc.*483A= (n.*483A=)
c.1031A= (p.Asn344=)
c.1025A= (p.Asn342=)
11g.119277780A>CCA382911868CBLc.*483A>C (n.*483A>C)
c.1031A>C (p.Asn344Thr)
c.1025A>C (p.Asn342Thr)
11g.119277780A>GCA6318414CBLc.*483A>G (n.*483A>G)
c.1031A>G (p.Asn344Ser)
c.1025A>G (p.Asn342Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.119277780A>TCA382911870CBLc.*483A>T (n.*483A>T)
c.1031A>T (p.Asn344Ile)
c.1025A>T (p.Asn342Ile)
11g.119277781T>ACA382911872CBLc.*484T>A (n.*484T>A)
c.1032T>A (p.Asn344Lys)
c.1026T>A (p.Asn342Lys)
11g.119277781T>CCA477134129CBLc.*484T>C (n.*484T>C)
c.1032T>C (p.Asn344=)
c.1026T>C (p.Asn342=)
11g.119277781T>GCA382911874CBLc.*484T>G (n.*484T>G)
c.1032T>G (p.Asn344Lys)
c.1026T>G (p.Asn342Lys)
11g.119277782C>ACA382911876CBLc.*485C>A (n.*485C>A)
c.1033C>A (p.Gln345Lys)
c.1027C>A (p.Gln343Lys)
11g.119277782C=CA2003905197CBLc.*485C= (n.*485C=)
c.1033C= (p.Gln345=)
c.1027C= (p.Gln343=)
11g.119277782C>GCA6318415CBLc.*485C>G (n.*485C>G)
c.1033C>G (p.Gln345Glu)
c.1027C>G (p.Gln343Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.119277782C>TCA382911878CBLc.*485C>T (n.*485C>T)
c.1033C>T (p.Gln345Ter)
c.1027C>T (p.Gln343Ter)
11g.119277783A>CCA382911880CBLc.*486A>C (n.*486A>C)
c.1034A>C (p.Gln345Pro)
c.1028A>C (p.Gln343Pro)
11g.119277783A>GCA382911882CBLc.*486A>G (n.*486A>G)
c.1034A>G (p.Gln345Arg)
c.1028A>G (p.Gln343Arg)
11g.119277783A>TCA382911883CBLc.*486A>T (n.*486A>T)
c.1034A>T (p.Gln345Leu)
c.1028A>T (p.Gln343Leu)
11g.119277784G>ACA477134147CBLc.*487G>A (n.*487G>A)
c.1035G>A (p.Gln345=)
c.1029G>A (p.Gln343=)
11g.119277784G>CCA382911887CBLc.*487G>C (n.*487G>C)
c.1035G>C (p.Gln345His)
c.1029G>C (p.Gln343His)
11g.119277784G>TCA382911885CBLc.*487G>T (n.*487G>T)
c.1035G>T (p.Gln345His)
c.1029G>T (p.Gln343His)
11g.119277785A>CCA382911888CBLc.*488A>C (n.*488A>C)
c.1036A>C (p.Asn346His)
c.1030A>C (p.Asn344His)
11g.119277785A>GCA382911892CBLc.*488A>G (n.*488A>G)
c.1036A>G (p.Asn346Asp)
c.1030A>G (p.Asn344Asp)
11g.119277785A>TCA382911890CBLc.*488A>T (n.*488A>T)
c.1036A>T (p.Asn346Tyr)
c.1030A>T (p.Asn344Tyr)
11g.119277786A>CCA382911894CBLc.*489A>C (n.*489A>C)
c.1037A>C (p.Asn346Thr)
c.1031A>C (p.Asn344Thr)
11g.119277786A>GCA382911896CBLc.*489A>G (n.*489A>G)
c.1037A>G (p.Asn346Ser)
c.1031A>G (p.Asn344Ser)
11g.119277786A>TCA382911895CBLc.*489A>T (n.*489A>T)
c.1037A>T (p.Asn346Ile)
c.1031A>T (p.Asn344Ile)
11g.119277787T>ACA382911898CBLc.*490T>A (n.*490T>A)
c.1038T>A (p.Asn346Lys)
c.1032T>A (p.Asn344Lys)
11g.119277787T>CCA477134191CBLc.*490T>C (n.*490T>C)
c.1038T>C (p.Asn346=)
c.1032T>C (p.Asn344=)
11g.119277787T>GCA382911899CBLc.*490T>G (n.*490T>G)
c.1038T>G (p.Asn346Lys)
c.1032T>G (p.Asn344Lys)
11g.119277788C>ACA382911901CBLc.*491C>A (n.*491C>A)
c.1039C>A (p.Pro347Thr)
c.1033C>A (p.Pro345Thr)
11g.119277788C>GCA382911903CBLc.*491C>G (n.*491C>G)
c.1039C>G (p.Pro347Ala)
c.1033C>G (p.Pro345Ala)
11g.119277788C>TCA382911904CBLc.*491C>T (n.*491C>T)
c.1039C>T (p.Pro347Ser)
c.1033C>T (p.Pro345Ser)
 ClinVar
11g.119277789C>ACA382911905CBLc.*492C>A (n.*492C>A)
c.1040C>A (p.Pro347His)
c.1034C>A (p.Pro345His)
11g.119277789C>GCA382911907CBLc.*492C>G (n.*492C>G)
c.1040C>G (p.Pro347Arg)
c.1034C>G (p.Pro345Arg)
11g.119277789C>TCA382911909CBLc.*492C>T (n.*492C>T)
c.1040C>T (p.Pro347Leu)
c.1034C>T (p.Pro345Leu)
11g.119277790T>ACA477134227CBLc.*493T>A (n.*493T>A)
c.1041T>A (p.Pro347=)
c.1035T>A (p.Pro345=)
11g.119277790T>CCA477134234CBLc.*493T>C (n.*493T>C)
c.1041T>C (p.Pro347=)
c.1035T>C (p.Pro345=)
11g.119277790T>GCA477134235CBLc.*493T>G (n.*493T>G)
c.1041T>G (p.Pro347=)
c.1035T>G (p.Pro345=)
11g.119277791G>ACA382911910CBLc.*494G>A (n.*494G>A)
c.1042G>A (p.Asp348Asn)
c.1036G>A (p.Asp346Asn)
11g.119277791G>CCA382911912CBLc.*494G>C (n.*494G>C)
c.1042G>C (p.Asp348His)
c.1036G>C (p.Asp346His)
11g.119277791G>TCA382911913CBLc.*494G>T (n.*494G>T)
c.1042G>T (p.Asp348Tyr)
c.1036G>T (p.Asp346Tyr)
11g.119277792A=CA2003905205CBLc.*495A= (n.*495A=)
c.1043A= (p.Asp348=)
c.1037A= (p.Asp346=)
11g.119277792A>CCA382911917CBLc.*495A>C (n.*495A>C)
c.1043A>C (p.Asp348Ala)
c.1037A>C (p.Asp346Ala)
11g.119277792A>GCA382911916CBLc.*495A>G (n.*495A>G)
c.1043A>G (p.Asp348Gly)
c.1037A>G (p.Asp346Gly)
 ClinVar dbSNP
11g.119277792A>TCA382911914CBLc.*495A>T (n.*495A>T)
c.1043A>T (p.Asp348Val)
c.1037A>T (p.Asp346Val)
11g.119277793T>ACA382911919CBLc.*496T>A (n.*496T>A)
c.1044T>A (p.Asp348Glu)
c.1038T>A (p.Asp346Glu)
11g.119277793T>CCA477134268CBLc.*496T>C (n.*496T>C)
c.1044T>C (p.Asp348=)
c.1038T>C (p.Asp346=)
11g.119277793T>GCA382911921CBLc.*496T>G (n.*496T>G)
c.1044T>G (p.Asp348Glu)
c.1038T>G (p.Asp346Glu)
11g.119277794C>ACA382911922CBLc.*497C>A (n.*497C>A)
c.1045C>A (p.Leu349Met)
c.1039C>A (p.Leu347Met)
11g.119277794C>GCA382911923CBLc.*497C>G (n.*497C>G)
c.1045C>G (p.Leu349Val)
c.1039C>G (p.Leu347Val)
11g.119277794C>TCA477134269CBLc.*497C>T (n.*497C>T)
c.1045C>T (p.Leu349=)
c.1039C>T (p.Leu347=)
11g.119277795T>ACA382911925CBLc.*498T>A (n.*498T>A)
c.1046T>A (p.Leu349Gln)
c.1040T>A (p.Leu347Gln)
11g.119277795T>CCA382911927CBLc.*498T>C (n.*498T>C)
c.1046T>C (p.Leu349Pro)
c.1040T>C (p.Leu347Pro)
 gnomAD v4
11g.119277795T>GCA382911929CBLc.*498T>G (n.*498T>G)
c.1046T>G (p.Leu349Arg)
c.1040T>G (p.Leu347Arg)
11g.119277796G>ACA477134283CBLc.*499G>A (n.*499G>A)
c.1047G>A (p.Leu349=)
c.1041G>A (p.Leu347=)
 COSMIC
11g.119277796G>CCA477134287CBLc.*499G>C (n.*499G>C)
c.1047G>C (p.Leu349=)
c.1041G>C (p.Leu347=)
11g.119277796G>TCA477134288CBLc.*499G>T (n.*499G>T)
c.1047G>T (p.Leu349=)
c.1041G>T (p.Leu347=)
11g.119277797A=CA2003905212CBLc.*500A= (n.*500A=)
c.1048A= (p.Thr350=)
c.1042A= (p.Thr348=)
11g.119277797A>CCA382911930CBLc.*500A>C (n.*500A>C)
c.1048A>C (p.Thr350Pro)
c.1042A>C (p.Thr348Pro)
11g.119277797A>GCA382911931CBLc.*500A>G (n.*500A>G)
c.1048A>G (p.Thr350Ala)
c.1042A>G (p.Thr348Ala)
 dbSNP gnomAD v3 gnomAD v4
11g.119277797A>TCA382911933CBLc.*500A>T (n.*500A>T)
c.1048A>T (p.Thr350Ser)
c.1042A>T (p.Thr348Ser)
 dbSNP gnomAD v2 gnomAD v4
11g.119277798C>ACA382911935CBLc.*501C>A (n.*501C>A)
c.1049C>A (p.Thr350Asn)
c.1043C>A (p.Thr348Asn)
11g.119277798C>GCA382911937CBLc.*501C>G (n.*501C>G)
c.1049C>G (p.Thr350Ser)
c.1043C>G (p.Thr348Ser)
11g.119277798C>TCA382911938CBLc.*501C>T (n.*501C>T)
c.1049C>T (p.Thr350Ile)
c.1043C>T (p.Thr348Ile)
 ClinVar gnomAD v4
11g.119277799T>ACA477134296CBLc.*502T>A (n.*502T>A)
c.1050T>A (p.Thr350=)
c.1044T>A (p.Thr348=)
11g.119277799T>CCA477134301CBLc.*502T>C (n.*502T>C)
c.1050T>C (p.Thr350=)
c.1044T>C (p.Thr348=)
11g.119277799T>GCA477134298CBLc.*502T>G (n.*502T>G)
c.1050T>G (p.Thr350=)
c.1044T>G (p.Thr348=)
11g.119277800G>ACA382911943CBLc.*503G>A (n.*503G>A)
c.1051G>A (p.Gly351Ser)
c.1045G>A (p.Gly349Ser)
11g.119277800G>CCA382911941CBLc.*503G>C (n.*503G>C)
c.1051G>C (p.Gly351Arg)
c.1045G>C (p.Gly349Arg)
11g.119277800G>TCA382911939CBLc.*503G>T (n.*503G>T)
c.1051G>T (p.Gly351Cys)
c.1045G>T (p.Gly349Cys)
11g.119277801delCA2616387235CBLc.*504del (n.*504del)
c.1052del (p.Gly351AlafsTer13)
c.1046del (p.Gly349AlafsTer13)
 gnomAD v4
11g.119277801G>ACA382911948CBLc.*504G>A (n.*504G>A)
c.1052G>A (p.Gly351Asp)
c.1046G>A (p.Gly349Asp)
 dbSNP
11g.119277801G>CCA382911944CBLc.*504G>C (n.*504G>C)
c.1052G>C (p.Gly351Ala)
c.1046G>C (p.Gly349Ala)
11g.119277801G>TCA382911946CBLc.*504G>T (n.*504G>T)
c.1052G>T (p.Gly351Val)
c.1046G>T (p.Gly349Val)
11g.119277802C>ACA477134770CBLc.*505C>A (n.*505C>A)
c.1053C>A (p.Gly351=)
c.1047C>A (p.Gly349=)
11g.119277802C=CA2003905220CBLc.*505C= (n.*505C=)
c.1053C= (p.Gly351=)
c.1047C= (p.Gly349=)
11g.119277802C>GCA477134773CBLc.*505C>G (n.*505C>G)
c.1053C>G (p.Gly351=)
c.1047C>G (p.Gly349=)
11g.119277802C>TCA477134777CBLc.*505C>T (n.*505C>T)
c.1053C>T (p.Gly351=)
c.1047C>T (p.Gly349=)
 dbSNP gnomAD v2 gnomAD v4
11g.119277803T>ACA382911949CBLc.*506T>A (n.*506T>A)
c.1054T>A (p.Leu352Ile)
c.1048T>A (p.Leu350Ile)
11g.119277803T>CCA477134791CBLc.*506T>C (n.*506T>C)
c.1054T>C (p.Leu352=)
c.1048T>C (p.Leu350=)
11g.119277803T>GCA382911951CBLc.*506T>G (n.*506T>G)
c.1054T>G (p.Leu352Val)
c.1048T>G (p.Leu350Val)
 COSMIC
11g.119277804T>ACA382911952CBLc.*507T>A (n.*507T>A)
c.1055T>A (p.Leu352Ter)
c.1049T>A (p.Leu350Ter)
11g.119277804T>CCA382911954CBLc.*507T>C (n.*507T>C)
c.1055T>C (p.Leu352Ser)
c.1049T>C (p.Leu350Ser)
11g.119277804T>GCA382911955CBLc.*507T>G (n.*507T>G)
c.1055T>G (p.Leu352Ter)
c.1049T>G (p.Leu350Ter)
11g.119277805A=CA2003905226CBLc.*508A= (n.*508A=)
c.1056A= (p.Leu352=)
c.1050A= (p.Leu350=)
11g.119277805A>CCA382911957CBLc.*508A>C (n.*508A>C)
c.1056A>C (p.Leu352Phe)
c.1050A>C (p.Leu350Phe)
11g.119277805A>GCA6318416CBLc.*508A>G (n.*508A>G)
c.1056A>G (p.Leu352=)
c.1050A>G (p.Leu350=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.119277805A>TCA382911959CBLc.*508A>T (n.*508A>T)
c.1056A>T (p.Leu352Phe)
c.1050A>T (p.Leu350Phe)
11g.119277806T>ACA382911961CBLc.*509T>A (n.*509T>A)
c.1057T>A (p.Cys353Ser)
c.1051T>A (p.Cys351Ser)
11g.119277806T>CCA382911963CBLc.*509T>C (n.*509T>C)
c.1057T>C (p.Cys353Arg)
c.1051T>C (p.Cys351Arg)
11g.119277806T>GCA382911964CBLc.*509T>G (n.*509T>G)
c.1057T>G (p.Cys353Gly)
c.1051T>G (p.Cys351Gly)
11g.119277807G>ACA382911969CBLc.*510G>A (n.*510G>A)
c.1058G>A (p.Cys353Tyr)
c.1052G>A (p.Cys351Tyr)
11g.119277807G>CCA382911966CBLc.*510G>C (n.*510G>C)
c.1058G>C (p.Cys353Ser)
c.1052G>C (p.Cys351Ser)
11g.119277807G>TCA382911967CBLc.*510G>T (n.*510G>T)
c.1058G>T (p.Cys353Phe)
c.1052G>T (p.Cys351Phe)
11g.119277808T>ACA382911975CBLc.*511T>A (n.*511T>A)
c.1059T>A (p.Cys353Ter)
c.1053T>A (p.Cys351Ter)
11g.119277808T>CCA477134822CBLc.*511T>C (n.*511T>C)
c.1059T>C (p.Cys353=)
c.1053T>C (p.Cys351=)
11g.119277808T>GCA382911976CBLc.*511T>G (n.*511T>G)
c.1059T>G (p.Cys353Trp)
c.1053T>G (p.Cys351Trp)
11g.119277809G>ACA382911977CBLc.*512G>A (n.*512G>A)
c.1060G>A (p.Glu354Lys)
c.1054G>A (p.Glu352Lys)
11g.119277809G>CCA382911978CBLc.*512G>C (n.*512G>C)
c.1060G>C (p.Glu354Gln)
c.1054G>C (p.Glu352Gln)
11g.119277809G>TCA382911979CBLc.*512G>T (n.*512G>T)
c.1060G>T (p.Glu354Ter)
c.1054G>T (p.Glu352Ter)
11g.119277810A>CCA382911980CBLc.*513A>C (n.*513A>C)
c.1061A>C (p.Glu354Ala)
c.1055A>C (p.Glu352Ala)
11g.119277810A>GCA382911981CBLc.*513A>G (n.*513A>G)
c.1061A>G (p.Glu354Gly)
c.1055A>G (p.Glu352Gly)
 ClinVar dbSNP
11g.119277810A>TCA382911982CBLc.*513A>T (n.*513A>T)
c.1061A>T (p.Glu354Val)
c.1055A>T (p.Glu352Val)
11g.119277811A>CCA382911983CBLc.*514A>C (n.*514A>C)
c.1062A>C (p.Glu354Asp)
c.1056A>C (p.Glu352Asp)
 gnomAD v4
11g.119277811A>GCA477134839CBLc.*514A>G (n.*514A>G)
c.1062A>G (p.Glu354=)
c.1056A>G (p.Glu352=)
 ClinVar
11g.119277811A>TCA382911984CBLc.*514A>T (n.*514A>T)
c.1062A>T (p.Glu354Asp)
c.1056A>T (p.Glu352Asp)
11g.119277812C>ACA382911985CBLc.*515C>A (n.*515C>A)
c.1063C>A (p.Pro355Thr)
c.1057C>A (p.Pro353Thr)
 dbSNP gnomAD v4
11g.119277812C>GCA382911986CBLc.*515C>G (n.*515C>G)
c.1063C>G (p.Pro355Ala)
c.1057C>G (p.Pro353Ala)
11g.119277812C>TCA382911987CBLc.*515C>T (n.*515C>T)
c.1063C>T (p.Pro355Ser)
c.1057C>T (p.Pro353Ser)
11g.119277813C>ACA382911989CBLc.*516C>A (n.*516C>A)
c.1064C>A (p.Pro355Gln)
c.1058C>A (p.Pro353Gln)
11g.119277813C>GCA382911990CBLc.*516C>G (n.*516C>G)
c.1064C>G (p.Pro355Arg)
c.1058C>G (p.Pro353Arg)
11g.119277813C>TCA382911988CBLc.*516C>T (n.*516C>T)
c.1064C>T (p.Pro355Leu)
c.1058C>T (p.Pro353Leu)
11g.119277814A>CCA477134870CBLc.*517A>C (n.*517A>C)
c.1065A>C (p.Pro355=)
c.1059A>C (p.Pro353=)
11g.119277814A>GCA477134856CBLc.*517A>G (n.*517A>G)
c.1065A>G (p.Pro355=)
c.1059A>G (p.Pro353=)
11g.119277814A>TCA477134862CBLc.*517A>T (n.*517A>T)
c.1065A>T (p.Pro355=)
c.1059A>T (p.Pro353=)
11g.119277815A=CA2003905233CBLc.*518A= (n.*518A=)
c.1066A= (p.Thr356=)
c.1060A= (p.Thr354=)
11g.119277815A>CCA382911991CBLc.*518A>C (n.*518A>C)
c.1066A>C (p.Thr356Pro)
c.1060A>C (p.Thr354Pro)
11g.119277815A>GCA382911996CBLc.*518A>G (n.*518A>G)
c.1066A>G (p.Thr356Ala)
c.1060A>G (p.Thr354Ala)
 dbSNP
11g.119277815A>TCA382911998CBLc.*518A>T (n.*518A>T)
c.1066A>T (p.Thr356Ser)
c.1060A>T (p.Thr354Ser)
11g.119277816C>ACA382912000CBLc.*519C>A (n.*519C>A)
c.1067C>A (p.Thr356Asn)
c.1061C>A (p.Thr354Asn)
11g.119277816C=CA2003905240CBLc.*519C= (n.*519C=)
c.1067C= (p.Thr356=)
c.1061C= (p.Thr354=)
11g.119277816C>GCA382912002CBLc.*519C>G (n.*519C>G)
c.1067C>G (p.Thr356Ser)
c.1061C>G (p.Thr354Ser)
 gnomAD v4
11g.119277816C>TCA229661714CBLc.*519C>T (n.*519C>T)
c.1067C>T (p.Thr356Ile)
c.1061C>T (p.Thr354Ile)
 dbSNP
11g.119277817T>ACA477134877CBLc.*520T>A (n.*520T>A)
c.1068T>A (p.Thr356=)
c.1062T>A (p.Thr354=)
11g.119277817T>CCA477134878CBLc.*520T>C (n.*520T>C)
c.1068T>C (p.Thr356=)
c.1062T>C (p.Thr354=)
11g.119277817T>GCA477134890CBLc.*520T>G (n.*520T>G)
c.1068T>G (p.Thr356=)
c.1062T>G (p.Thr354=)
11g.119277818C>ACA382912006CBLc.*521C>A (n.*521C>A)
c.1069C>A (p.Pro357Thr)
c.1063C>A (p.Pro355Thr)
11g.119277818C>GCA382912007CBLc.*521C>G (n.*521C>G)
c.1069C>G (p.Pro357Ala)
c.1063C>G (p.Pro355Ala)
11g.119277818C>TCA382912009CBLc.*521C>T (n.*521C>T)
c.1069C>T (p.Pro357Ser)
c.1063C>T (p.Pro355Ser)
 ClinVar dbSNP gnomAD v4
11g.119277819C>ACA382912010CBLc.*522C>A (n.*522C>A)
c.1070C>A (p.Pro357His)
c.1064C>A (p.Pro355His)
11g.119277819C>GCA382912012CBLc.*522C>G (n.*522C>G)
c.1070C>G (p.Pro357Arg)
c.1064C>G (p.Pro355Arg)
 gnomAD v4
11g.119277819C>TCA382912014CBLc.*522C>T (n.*522C>T)
c.1070C>T (p.Pro357Leu)
c.1064C>T (p.Pro355Leu)
 gnomAD v4
11g.119277820C>ACA477134926CBLc.*523C>A (n.*523C>A)
c.1071C>A (p.Pro357=)
c.1065C>A (p.Pro355=)
11g.119277820C=CA2003905246CBLc.*523C= (n.*523C=)
c.1071C= (p.Pro357=)
c.1065C= (p.Pro355=)
11g.119277820C>GCA477134928CBLc.*523C>G (n.*523C>G)
c.1071C>G (p.Pro357=)
c.1065C>G (p.Pro355=)
11g.119277820C>TCA135693CBLc.*523C>T (n.*523C>T)
c.1071C>T (p.Pro357=)
c.1065C>T (p.Pro355=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.119277821C>ACA382912021CBLc.*524C>A (n.*524C>A)
c.1072C>A (p.Gln358Lys)
c.1066C>A (p.Gln356Lys)
11g.119277821C>GCA382912019CBLc.*524C>G (n.*524C>G)
c.1072C>G (p.Gln358Glu)
c.1066C>G (p.Gln356Glu)
11g.119277821C>TCA382912017CBLc.*524C>T (n.*524C>T)
c.1072C>T (p.Gln358Ter)
c.1066C>T (p.Gln356Ter)
11g.119277821_119277833delinsCAAGACCATATCACA2003905256CBLc.*524_*536delinsCAAGACCATATCA (n.*524_*536delinsCAAGACCATATCA)
c.1072_1084delinsCAAGACCATATCA (p.Gln358=)
c.1066_1078delinsCAAGACCATATCA (p.Gln356=)
11g.119277822A>CCA382912024CBLc.*525A>C (n.*525A>C)
c.1073A>C (p.Gln358Pro)
c.1067A>C (p.Gln356Pro)
11g.119277822A>GCA382912025CBLc.*525A>G (n.*525A>G)
c.1073A>G (p.Gln358Arg)
c.1067A>G (p.Gln356Arg)
11g.119277822A>TCA382912027CBLc.*525A>T (n.*525A>T)
c.1073A>T (p.Gln358Leu)
c.1067A>T (p.Gln356Leu)
11g.119277825_119277836delCA282018CBLc.*528_*539del (n.*528_*539del)
c.1076_1087del (p.Asp359_Lys362del)
c.1070_1081del (p.Asp357_Lys360del)
 ClinVar dbSNP
11g.119277823A=CA2003905270CBLc.*526A= (n.*526A=)
c.1074A= (p.Gln358=)
c.1068A= (p.Gln356=)
11g.119277823A>CCA382912029CBLc.*526A>C (n.*526A>C)
c.1074A>C (p.Gln358His)
c.1068A>C (p.Gln356His)
11g.119277823A>GCA16613531CBLc.*526A>G (n.*526A>G)
c.1074A>G (p.Gln358=)
c.1068A>G (p.Gln356=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.119277823A>TCA382912032CBLc.*526A>T (n.*526A>T)
c.1074A>T (p.Gln358His)
c.1068A>T (p.Gln356His)
11g.119277824G>ACA382912036CBLc.*527G>A (n.*527G>A)
c.1075G>A (p.Asp359Asn)
c.1069G>A (p.Asp357Asn)
 dbSNP gnomAD v2
11g.119277824G>CCA382912038CBLc.*527G>C (n.*527G>C)
c.1075G>C (p.Asp359His)
c.1069G>C (p.Asp357His)
11g.119277824G=CA2003905276CBLc.*527G= (n.*527G=)
c.1075G= (p.Asp359=)
c.1069G= (p.Asp357=)
11g.119277824G>TCA382912040CBLc.*527G>T (n.*527G>T)
c.1075G>T (p.Asp359Tyr)
c.1069G>T (p.Asp357Tyr)
11g.119277825A>CCA382912041CBLc.*528A>C (n.*528A>C)
c.1076A>C (p.Asp359Ala)
c.1070A>C (p.Asp357Ala)
11g.119277825A>GCA382912042CBLc.*528A>G (n.*528A>G)
c.1076A>G (p.Asp359Gly)
c.1070A>G (p.Asp357Gly)
 gnomAD v4
11g.119277825A>TCA382912044CBLc.*528A>T (n.*528A>T)
c.1076A>T (p.Asp359Val)
c.1070A>T (p.Asp357Val)
11g.119277826C>ACA382912046CBLc.*529C>A (n.*529C>A)
c.1077C>A (p.Asp359Glu)
c.1071C>A (p.Asp357Glu)
11g.119277826C>GCA382912047CBLc.*529C>G (n.*529C>G)
c.1077C>G (p.Asp359Glu)
c.1071C>G (p.Asp357Glu)
 dbSNP
11g.119277826C>TCA477134978CBLc.*529C>T (n.*529C>T)
c.1077C>T (p.Asp359=)
c.1071C>T (p.Asp357=)
11g.119277827C>ACA382912049CBLc.*530C>A (n.*530C>A)
c.1078C>A (p.His360Asn)
c.1072C>A (p.His358Asn)
11g.119277827C=CA2003905279CBLc.*530C= (n.*530C=)
c.1078C= (p.His360=)
c.1072C= (p.His358=)
11g.119277827C>GCA382912051CBLc.*530C>G (n.*530C>G)
c.1078C>G (p.His360Asp)
c.1072C>G (p.His358Asp)
11g.119277827C>TCA229661723CBLc.*530C>T (n.*530C>T)
c.1078C>T (p.His360Tyr)
c.1072C>T (p.His358Tyr)
 ClinVar dbSNP
11g.119277828A>CCA382912053CBLc.*531A>C (n.*531A>C)
c.1079A>C (p.His360Pro)
c.1073A>C (p.His358Pro)
11g.119277828A>GCA382912055CBLc.*531A>G (n.*531A>G)
c.1079A>G (p.His360Arg)
c.1073A>G (p.His358Arg)
 gnomAD v4
11g.119277828A>TCA382912056CBLc.*531A>T (n.*531A>T)
c.1079A>T (p.His360Leu)
c.1073A>T (p.His358Leu)
11g.119277829T>ACA382912058CBLc.*532T>A (n.*532T>A)
c.1080T>A (p.His360Gln)
c.1074T>A (p.His358Gln)
11g.119277829T>CCA477134990CBLc.*532T>C (n.*532T>C)
c.1080T>C (p.His360=)
c.1074T>C (p.His358=)
11g.119277829T>GCA382912059CBLc.*532T>G (n.*532T>G)
c.1080T>G (p.His360Gln)
c.1074T>G (p.His358Gln)
11g.119277830A=CA2003905284CBLc.*533A= (n.*533A=)
c.1081A= (p.Ile361=)
c.1075A= (p.Ile359=)
11g.119277830A>CCA382912060CBLc.*533A>C (n.*533A>C)
c.1081A>C (p.Ile361Leu)
c.1075A>C (p.Ile359Leu)
 gnomAD v4
11g.119277830A>GCA6318417CBLc.*533A>G (n.*533A>G)
c.1081A>G (p.Ile361Val)
c.1075A>G (p.Ile359Val)
 ClinVar dbSNP ExAC gnomAD v4
11g.119277830A>TCA382912064CBLc.*533A>T (n.*533A>T)
c.1081A>T (p.Ile361Phe)
c.1075A>T (p.Ile359Phe)
11g.119277830_119277831insCACACCCAACCA2793839042CBLc.*533_*534insCACACCCAAC (n.*533_*534insCACACCCAAC)
c.1081_1082insCACACCCAAC (p.Ile361ThrfsTer12)
c.1075_1076insCACACCCAAC (p.Ile359ThrfsTer12)
11g.119277831T>ACA382912065CBLc.*534T>A (n.*534T>A)
c.1082T>A (p.Ile361Asn)
c.1076T>A (p.Ile359Asn)
 dbSNP gnomAD v2 gnomAD v4
11g.119277831T>CCA382912067CBLc.*534T>C (n.*534T>C)
c.1082T>C (p.Ile361Thr)
c.1076T>C (p.Ile359Thr)
 ClinVar gnomAD v4
11g.119277831T>GCA382912070CBLc.*534T>G (n.*534T>G)
c.1082T>G (p.Ile361Ser)
c.1076T>G (p.Ile359Ser)
 dbSNP gnomAD v2 gnomAD v4
11g.119277831T=CA2003905294CBLc.*534T= (n.*534T=)
c.1082T= (p.Ile361=)
c.1076T= (p.Ile359=)
11g.119277831_119277853delCA645576426CBLc.*534_*547+9del
c.1082_1095+9del
c.1076_1089+9del
 COSMIC
11g.119277832C>ACA477135014CBLc.*535C>A (n.*535C>A)
c.1083C>A (p.Ile361=)
c.1077C>A (p.Ile359=)
 gnomAD v4
11g.119277832C=CA2003905301CBLc.*535C= (n.*535C=)
c.1083C= (p.Ile361=)
c.1077C= (p.Ile359=)
11g.119277832C>GCA382912071CBLc.*535C>G (n.*535C>G)
c.1083C>G (p.Ile361Met)
c.1077C>G (p.Ile359Met)
11g.119277832C>TCA477135020CBLc.*535C>T (n.*535C>T)
c.1083C>T (p.Ile361=)
c.1077C>T (p.Ile359=)
 dbSNP
11g.119277833A>CCA382912076CBLc.*536A>C (n.*536A>C)
c.1084A>C (p.Lys362Gln)
c.1078A>C (p.Lys360Gln)
 gnomAD v4
11g.119277833A>GCA382912073CBLc.*536A>G (n.*536A>G)
c.1084A>G (p.Lys362Glu)
c.1078A>G (p.Lys360Glu)
11g.119277833A>TCA382912075CBLc.*536A>T (n.*536A>T)
c.1084A>T (p.Lys362Ter)
c.1078A>T (p.Lys360Ter)
11g.119277835delCA2616387239CBLc.*538del (n.*538del)
c.1086del (p.Val363Ter)
c.1080del (p.Val361Ter)
 gnomAD v4
11g.119277834A>CCA382912078CBLc.*537A>C (n.*537A>C)
c.1085A>C (p.Lys362Thr)
c.1079A>C (p.Lys360Thr)
11g.119277834A>GCA382912079CBLc.*537A>G (n.*537A>G)
c.1085A>G (p.Lys362Arg)
c.1079A>G (p.Lys360Arg)
11g.119277834A>TCA382912080CBLc.*537A>T (n.*537A>T)
c.1085A>T (p.Lys362Ile)
c.1079A>T (p.Lys360Ile)
11g.119277835_119277843delCA2793839045CBLc.*538_*546del (n.*538_*546del)
c.1086_1094del (p.Val363_Gln365del)
c.1080_1088del (p.Val361_Gln363del)
11g.119277835A>CCA382912082CBLc.*538A>C (n.*538A>C)
c.1086A>C (p.Lys362Asn)
c.1080A>C (p.Lys360Asn)
11g.119277835A>GCA477135049CBLc.*538A>G (n.*538A>G)
c.1086A>G (p.Lys362=)
c.1080A>G (p.Lys360=)
11g.119277835A>TCA382912084CBLc.*538A>T (n.*538A>T)
c.1086A>T (p.Lys362Asn)
c.1080A>T (p.Lys360Asn)
11g.119277836G>ACA382912085CBLc.*539G>A (n.*539G>A)
c.1087G>A (p.Val363Met)
c.1081G>A (p.Val361Met)
11g.119277836G>CCA382912086CBLc.*539G>C (n.*539G>C)
c.1087G>C (p.Val363Leu)
c.1081G>C (p.Val361Leu)
11g.119277836G>TCA382912088CBLc.*539G>T (n.*539G>T)
c.1087G>T (p.Val363Leu)
c.1081G>T (p.Val361Leu)
11g.119277840_119277848delCA2580083681CBLc.*543_*547+4del
c.1091_1095+4del
c.1085_1089+4del
 ClinVar gnomAD v4
11g.119277837T>ACA382912091CBLc.*540T>A (n.*540T>A)
c.1088T>A (p.Val363Glu)
c.1082T>A (p.Val361Glu)
11g.119277837T>CCA382912093CBLc.*540T>C (n.*540T>C)
c.1088T>C (p.Val363Ala)
c.1082T>C (p.Val361Ala)
 ClinVar dbSNP
11g.119277837T>GCA382912094CBLc.*540T>G (n.*540T>G)
c.1088T>G (p.Val363Gly)
c.1082T>G (p.Val361Gly)
 ClinVar dbSNP
11g.119277837T=CA2003905307CBLc.*540T= (n.*540T=)
c.1088T= (p.Val363=)
c.1082T= (p.Val361=)
11g.119277838G>ACA477135086CBLc.*541G>A (n.*541G>A)
c.1089G>A (p.Val363=)
c.1083G>A (p.Val361=)
11g.119277838G>CCA477135087CBLc.*541G>C (n.*541G>C)
c.1089G>C (p.Val363=)
c.1083G>C (p.Val361=)
11g.119277838G>TCA477135088CBLc.*541G>T (n.*541G>T)
c.1089G>T (p.Val363=)
c.1083G>T (p.Val361=)
 gnomAD v4
11g.119277839A>CCA382912097CBLc.*542A>C (n.*542A>C)
c.1090A>C (p.Thr364Pro)
c.1084A>C (p.Thr362Pro)
11g.119277839A>GCA382912100CBLc.*542A>G (n.*542A>G)
c.1090A>G (p.Thr364Ala)
c.1084A>G (p.Thr362Ala)
11g.119277839A>TCA382912099CBLc.*542A>T (n.*542A>T)
c.1090A>T (p.Thr364Ser)
c.1084A>T (p.Thr362Ser)
11g.119277840C>ACA382912104CBLc.*543C>A (n.*543C>A)
c.1091C>A (p.Thr364Asn)
c.1085C>A (p.Thr362Asn)
11g.119277840C>GCA382912110CBLc.*543C>G (n.*543C>G)
c.1091C>G (p.Thr364Ser)
c.1085C>G (p.Thr362Ser)
11g.119277840C>TCA382912106CBLc.*543C>T (n.*543C>T)
c.1091C>T (p.Thr364Ile)
c.1085C>T (p.Thr362Ile)
 ClinVar dbSNP gnomAD v4
11g.119277842delCA2616387241CBLc.*545del (n.*545del)
c.1093del (p.Gln365ArgfsTer27)
c.1087del (p.Gln363ArgfsTer27)
 gnomAD v4
11g.119277841C>ACA477135098CBLc.*544C>A (n.*544C>A)
c.1092C>A (p.Thr364=)
c.1086C>A (p.Thr362=)
 gnomAD v4
11g.119277841C>GCA477135103CBLc.*544C>G (n.*544C>G)
c.1092C>G (p.Thr364=)
c.1086C>G (p.Thr362=)
11g.119277841C>TCA477135100CBLc.*544C>T (n.*544C>T)
c.1092C>T (p.Thr364=)
c.1086C>T (p.Thr362=)
11g.119277842C>ACA382912112CBLc.*545C>A (n.*545C>A)
c.1093C>A (p.Gln365Lys)
c.1087C>A (p.Gln363Lys)
 gnomAD v4
11g.119277842C>GCA382912116CBLc.*545C>G (n.*545C>G)
c.1093C>G (p.Gln365Glu)
c.1087C>G (p.Gln363Glu)
11g.119277842C>TCA382912113CBLc.*545C>T (n.*545C>T)
c.1093C>T (p.Gln365Ter)
c.1087C>T (p.Gln363Ter)
 gnomAD v4
11g.119277843A=CA2003905312CBLc.*546A= (n.*546A=)
c.1094A= (p.Gln365=)
c.1088A= (p.Gln363=)
11g.119277843A>CCA382912117CBLc.*546A>C (n.*546A>C)
c.1094A>C (p.Gln365Pro)
c.1088A>C (p.Gln363Pro)
11g.119277843A>GCA6318418CBLc.*546A>G (n.*546A>G)
c.1094A>G (p.Gln365Arg)
c.1088A>G (p.Gln363Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.119277843A>TCA382912127CBLc.*546A>T (n.*546A>T)
c.1094A>T (p.Gln365Leu)
c.1088A>T (p.Gln363Leu)
 dbSNP
11g.119277844G>ACA477135142CBLc.*547G>A (n.*547G>A)
c.1095G>A (p.Gln365=)
c.1089G>A (p.Gln363=)
11g.119277844G>CCA382912130CBLc.*547G>C (n.*547G>C)
c.1095G>C (p.Gln365His)
c.1089G>C (p.Gln363His)
11g.119277844G>TCA382912133CBLc.*547G>T (n.*547G>T)
c.1095G>T (p.Gln365His)
c.1089G>T (p.Gln363His)
11g.119277845G>ACA382912135CBLc.*547+1G>A (n.*547+1G>A)
c.1095+1G>A (n.1095+1G>A)
c.1089+1G>A (n.1089+1G>A)
11g.119277845G>CCA382912138CBLc.*547+1G>C (n.*547+1G>C)
c.1095+1G>C (n.1095+1G>C)
c.1089+1G>C (n.1089+1G>C)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.119277845G=CA2003905322CBLc.*547+1G= (n.*547+1G=)
c.1095+1G= (n.1095+1G=)
c.1089+1G= (n.1089+1G=)
11g.119277845G>TCA382912139CBLc.*547+1G>T (n.*547+1G>T)
c.1095+1G>T (n.1095+1G>T)
c.1089+1G>T (n.1089+1G>T)
11g.119277846T>ACA382912141CBLc.*547+2T>A (n.*547+2T>A)
c.1095+2T>A (n.1095+2T>A)
c.1089+2T>A (n.1089+2T>A)
11g.119277846T>CCA382912143CBLc.*547+2T>C (n.*547+2T>C)
c.1095+2T>C (n.1095+2T>C)
c.1089+2T>C (n.1089+2T>C)
11g.119277846T>GCA382912145CBLc.*547+2T>G (n.*547+2T>G)
c.1095+2T>G (n.1095+2T>G)
c.1089+2T>G (n.1089+2T>G)
11g.119277847G>ACA229661724CBLc.*547+3G>A (n.*547+3G>A)
c.1095+3G>A (n.1095+3G>A)
c.1089+3G>A (n.1089+3G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.119277847G>CCA2616387242CBLc.*547+3G>C (n.*547+3G>C)
c.1095+3G>C (n.1095+3G>C)
c.1089+3G>C (n.1089+3G>C)
 gnomAD v4
11g.119277847G=CA2003905329CBLc.*547+3G= (n.*547+3G=)
c.1095+3G= (n.1095+3G=)
c.1089+3G= (n.1089+3G=)
11g.119277849G>ACA2575013235CBLc.*547+5G>A (n.*547+5G>A)
c.1095+5G>A (n.1095+5G>A)
c.1089+5G>A (n.1089+5G>A)
11g.119277851T>CCA2616387243CBLc.*547+7T>C (n.*547+7T>C)
c.1095+7T>C (n.1095+7T>C)
c.1089+7T>C (n.1089+7T>C)
 gnomAD v4
11g.119277852T>CCA672424935CBLc.*547+8T>C (n.*547+8T>C)
c.1095+8T>C (n.1095+8T>C)
c.1089+8T>C (n.1089+8T>C)
 dbSNP gnomAD v4
11g.119277852T>GCA2793839046CBLc.*547+8T>G (n.*547+8T>G)
c.1095+8T>G (n.1095+8T>G)
c.1089+8T>G (n.1089+8T>G)
11g.119277852T=CA2003905332CBLc.*547+8T= (n.*547+8T=)
c.1095+8T= (n.1095+8T=)
c.1089+8T= (n.1089+8T=)

Number of alleles fetched