Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.119278069_119278256delinsCGGCA645576427CBLc.*548-97_*638delinsCGG
c.1096-97_1186delinsCGG
c.1090-97_1180delinsCGG
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.119278176_119278241delCA645576435CBLc.*558_*623del (n.*558_*623del)
c.1106_1171del (p.Glu369_Asp390del)
c.1100_1165del (p.Glu367_Asp388del)
COSMIC COSMIC
11g.119278179_119278513delCA645576437CBLc.*561_*683del
c.1109_1231del
c.1103_1225del
COSMIC
11g.119278217dupCA2616387489CBLc.*599dup (n.*599dup)
c.1147dup (p.Ile383AsnfsTer4)
c.1141dup (p.Ile381AsnfsTer4)
gnomAD v4
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)
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)
11g.119278275C>ACA382912824CBLc.*657C>A (n.*657C>A)
c.1205C>A (p.Thr402Lys)
c.1199C>A (p.Thr400Lys)
11g.119278275C>GCA382912825CBLc.*657C>G (n.*657C>G)
c.1205C>G (p.Thr402Arg)
c.1199C>G (p.Thr400Arg)
dbSNP
11g.119278275C>TCA382912826CBLc.*657C>T (n.*657C>T)
c.1205C>T (p.Thr402Ile)
c.1199C>T (p.Thr400Ile)
dbSNP gnomAD v4
11g.119278276A=CA2003906053CBLc.*658A= (n.*658A=)
c.1206A= (p.Thr402=)
c.1200A= (p.Thr400=)
11g.119278276A>CCA477136064CBLc.*658A>C (n.*658A>C)
c.1206A>C (p.Thr402=)
c.1200A>C (p.Thr400=)
dbSNP
11g.119278276A>GCA6318451CBLc.*658A>G (n.*658A>G)
c.1206A>G (p.Thr402=)
c.1200A>G (p.Thr400=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.119278276A>TCA477136072CBLc.*658A>T (n.*658A>T)
c.1206A>T (p.Thr402=)
c.1200A>T (p.Thr400=)
dbSNP gnomAD v4
11g.119278276_119278277insGGGCA645576446CBLc.*658_*659insGGG (n.*658_*659insGGG)
c.1206_1207insGGG (p.Thr402_Ser403insGly)
c.1200_1201insGGG (p.Thr400_Ser401insGly)
COSMIC
11g.119278277T>ACA382912839CBLc.*659T>A (n.*659T>A)
c.1207T>A (p.Ser403Thr)
c.1201T>A (p.Ser401Thr)
dbSNP
11g.119278277T>CCA382912829CBLc.*659T>C (n.*659T>C)
c.1207T>C (p.Ser403Pro)
c.1201T>C (p.Ser401Pro)
dbSNP
11g.119278277T>GCA382912836CBLc.*659T>G (n.*659T>G)
c.1207T>G (p.Ser403Ala)
c.1201T>G (p.Ser401Ala)
11g.119278277_119278313delinsCTTTCA645576445CBLc.*659_*679+16delinsCTTT
c.1207_1227+16delinsCTTT
c.1201_1221+16delinsCTTT
COSMIC
11g.119278278C>ACA382912841CBLc.*660C>A (n.*660C>A)
c.1208C>A (p.Ser403Tyr)
c.1202C>A (p.Ser401Tyr)
dbSNP
11g.119278278C>GCA382912842CBLc.*660C>G (n.*660C>G)
c.1208C>G (p.Ser403Cys)
c.1202C>G (p.Ser401Cys)
gnomAD v4 COSMIC
11g.119278278C>TCA382912843CBLc.*660C>T (n.*660C>T)
c.1208C>T (p.Ser403Phe)
c.1202C>T (p.Ser401Phe)
dbSNP COSMIC
11g.119278279C>ACA477136092CBLc.*661C>A (n.*661C>A)
c.1209C>A (p.Ser403=)
c.1203C>A (p.Ser401=)
dbSNP
11g.119278279C=CA2003906057CBLc.*661C= (n.*661C=)
c.1209C= (p.Ser403=)
c.1203C= (p.Ser401=)
11g.119278279C>GCA477136090CBLc.*661C>G (n.*661C>G)
c.1209C>G (p.Ser403=)
c.1203C>G (p.Ser401=)
dbSNP
11g.119278279C>TCA229661908CBLc.*661C>T (n.*661C>T)
c.1209C>T (p.Ser403=)
c.1203C>T (p.Ser401=)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.119278280T>ACA382912846CBLc.*662T>A (n.*662T>A)
c.1210T>A (p.Cys404Ser)
c.1204T>A (p.Cys402Ser)
ClinVar dbSNP COSMIC
11g.119278280T>CCA382912847CBLc.*662T>C (n.*662T>C)
c.1210T>C (p.Cys404Arg)
c.1204T>C (p.Cys402Arg)
ClinVar dbSNP COSMIC
11g.119278280T>GCA382912852CBLc.*662T>G (n.*662T>G)
c.1210T>G (p.Cys404Gly)
c.1204T>G (p.Cys402Gly)
dbSNP COSMIC
11g.119278280T=CA2003906061CBLc.*662T= (n.*662T=)
c.1210T= (p.Cys404=)
c.1204T= (p.Cys402=)
11g.119278280_119278303delinsATCA2580610931CBLc.*662_*679+6delinsAT
c.1210_1227+6delinsAT
c.1204_1221+6delinsAT
11g.119278281G>ACA6318452CBLc.*663G>A (n.*663G>A)
c.1211G>A (p.Cys404Tyr)
c.1205G>A (p.Cys402Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.119278281G>CCA382912855CBLc.*663G>C (n.*663G>C)
c.1211G>C (p.Cys404Ser)
c.1205G>C (p.Cys402Ser)
dbSNP gnomAD v4
11g.119278281G=CA2003906066CBLc.*663G= (n.*663G=)
c.1211G= (p.Cys404=)
c.1205G= (p.Cys402=)
11g.119278281G>TCA382912857CBLc.*663G>T (n.*663G>T)
c.1211G>T (p.Cys404Phe)
c.1205G>T (p.Cys402Phe)
dbSNP gnomAD v4
11g.119278282T>ACA382912861CBLc.*664T>A (n.*664T>A)
c.1212T>A (p.Cys404Ter)
c.1206T>A (p.Cys402Ter)
dbSNP gnomAD v4
11g.119278282T>CCA477136104CBLc.*664T>C (n.*664T>C)
c.1212T>C (p.Cys404=)
c.1206T>C (p.Cys402=)
dbSNP
11g.119278282T>GCA382912863CBLc.*664T>G (n.*664T>G)
c.1212T>G (p.Cys404Trp)
c.1206T>G (p.Cys402Trp)
dbSNP COSMIC
11g.119278283C>ACA382912868CBLc.*665C>A (n.*665C>A)
c.1213C>A (p.Leu405Ile)
c.1207C>A (p.Leu403Ile)
11g.119278283C>GCA382912870CBLc.*665C>G (n.*665C>G)
c.1213C>G (p.Leu405Val)
c.1207C>G (p.Leu403Val)
11g.119278283C>TCA382912866CBLc.*665C>T (n.*665C>T)
c.1213C>T (p.Leu405Phe)
c.1207C>T (p.Leu403Phe)
11g.119278284T>ACA382912876CBLc.*666T>A (n.*666T>A)
c.1214T>A (p.Leu405His)
c.1208T>A (p.Leu403His)
dbSNP gnomAD v2 gnomAD v4
11g.119278284T>CCA382912878CBLc.*666T>C (n.*666T>C)
c.1214T>C (p.Leu405Pro)
c.1208T>C (p.Leu403Pro)
COSMIC
11g.119278284T>GCA382912880CBLc.*666T>G (n.*666T>G)
c.1214T>G (p.Leu405Arg)
c.1208T>G (p.Leu403Arg)
dbSNP gnomAD v2 gnomAD v4
11g.119278284T=CA2003906069CBLc.*666T= (n.*666T=)
c.1214T= (p.Leu405=)
c.1208T= (p.Leu403=)
11g.119278285T>ACA477136127CBLc.*667T>A (n.*667T>A)
c.1215T>A (p.Leu405=)
c.1209T>A (p.Leu403=)
11g.119278285T>CCA477136129CBLc.*667T>C (n.*667T>C)
c.1215T>C (p.Leu405=)
c.1209T>C (p.Leu403=)
11g.119278285T>GCA477136132CBLc.*667T>G (n.*667T>G)
c.1215T>G (p.Leu405=)
c.1209T>G (p.Leu403=)
11g.119278287_119278308delCA2695215606CBLc.*669_*679+11del
c.1217_1227+11del
c.1211_1221+11del
11g.119278286A=CA2003906071CBLc.*668A= (n.*668A=)
c.1216A= (p.Thr406=)
c.1210A= (p.Thr404=)
11g.119278286A>CCA382912885CBLc.*668A>C (n.*668A>C)
c.1216A>C (p.Thr406Pro)
c.1210A>C (p.Thr404Pro)
dbSNP gnomAD v3 gnomAD v4
11g.119278286A>GCA382912886CBLc.*668A>G (n.*668A>G)
c.1216A>G (p.Thr406Ala)
c.1210A>G (p.Thr404Ala)
dbSNP
11g.119278286A>TCA382912888CBLc.*668A>T (n.*668A>T)
c.1216A>T (p.Thr406Ser)
c.1210A>T (p.Thr404Ser)
dbSNP
11g.119278287C>ACA382912889CBLc.*669C>A (n.*669C>A)
c.1217C>A (p.Thr406Lys)
c.1211C>A (p.Thr404Lys)
dbSNP
11g.119278287C=CA2003906073CBLc.*669C= (n.*669C=)
c.1217C= (p.Thr406=)
c.1211C= (p.Thr404=)
11g.119278287C>GCA382912891CBLc.*669C>G (n.*669C>G)
c.1217C>G (p.Thr406Arg)
c.1211C>G (p.Thr404Arg)
dbSNP
11g.119278287C>TCA6318453CBLc.*669C>T (n.*669C>T)
c.1217C>T (p.Thr406Ile)
c.1211C>T (p.Thr404Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.119278288A=CA2003906078CBLc.*670A= (n.*670A=)
c.1218A= (p.Thr406=)
c.1212A= (p.Thr404=)
11g.119278288A>CCA477136150CBLc.*670A>C (n.*670A>C)
c.1218A>C (p.Thr406=)
c.1212A>C (p.Thr404=)
ClinVar dbSNP
11g.119278288A>GCA6318454CBLc.*670A>G (n.*670A>G)
c.1218A>G (p.Thr406=)
c.1212A>G (p.Thr404=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.119278288A>TCA477136154CBLc.*670A>T (n.*670A>T)
c.1218A>T (p.Thr406=)
c.1212A>T (p.Thr404=)
dbSNP
11g.119278289T>ACA382912894CBLc.*671T>A (n.*671T>A)
c.1219T>A (p.Ser407Thr)
c.1213T>A (p.Ser405Thr)
dbSNP
11g.119278289T>CCA382912895CBLc.*671T>C (n.*671T>C)
c.1219T>C (p.Ser407Pro)
c.1213T>C (p.Ser405Pro)
ClinVar dbSNP
11g.119278289T>GCA382912896CBLc.*671T>G (n.*671T>G)
c.1219T>G (p.Ser407Ala)
c.1213T>G (p.Ser405Ala)
11g.119278290C>ACA382912903CBLc.*672C>A (n.*672C>A)
c.1220C>A (p.Ser407Tyr)
c.1214C>A (p.Ser405Tyr)
ClinVar dbSNP
11g.119278290C>GCA382912900CBLc.*672C>G (n.*672C>G)
c.1220C>G (p.Ser407Cys)
c.1214C>G (p.Ser405Cys)
dbSNP COSMIC
11g.119278290C>TCA382912897CBLc.*672C>T (n.*672C>T)
c.1220C>T (p.Ser407Phe)
c.1214C>T (p.Ser405Phe)
ClinVar dbSNP gnomAD v4 COSMIC
11g.119278291C>ACA477136169CBLc.*673C>A (n.*673C>A)
c.1221C>A (p.Ser407=)
c.1215C>A (p.Ser405=)
dbSNP
11g.119278291C=CA2003906082CBLc.*673C= (n.*673C=)
c.1221C= (p.Ser407=)
c.1215C= (p.Ser405=)
11g.119278291C>GCA477136172CBLc.*673C>G (n.*673C>G)
c.1221C>G (p.Ser407=)
c.1215C>G (p.Ser405=)
dbSNP
11g.119278291C>TCA6318455CBLc.*673C>T (n.*673C>T)
c.1221C>T (p.Ser407=)
c.1215C>T (p.Ser405=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.119278292T>ACA6318457CBLc.*674T>A (n.*674T>A)
c.1222T>A (p.Trp408Arg)
c.1216T>A (p.Trp406Arg)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.119278292T>CCA382912908CBLc.*674T>C (n.*674T>C)
c.1222T>C (p.Trp408Arg)
c.1216T>C (p.Trp406Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.119278292T>GCA382912910CBLc.*674T>G (n.*674T>G)
c.1222T>G (p.Trp408Gly)
c.1216T>G (p.Trp406Gly)
dbSNP COSMIC
11g.119278292T=CA2003906085CBLc.*674T= (n.*674T=)
c.1222T= (p.Trp408=)
c.1216T= (p.Trp406=)
11g.119278292_119278297delinsTGGCAGCA2003906086CBLc.*674_*679delinsTGGCAG (n.*674_*679delinsTGGCAG)
c.1222_1227delinsTGGCAG (p.Trp408=)
c.1216_1221delinsTGGCAG (p.Trp406=)
11g.119278293G>ACA382912914CBLc.*675G>A (n.*675G>A)
c.1223G>A (p.Trp408Ter)
c.1217G>A (p.Trp406Ter)
dbSNP
11g.119278293G>CCA382912916CBLc.*675G>C (n.*675G>C)
c.1223G>C (p.Trp408Ser)
c.1217G>C (p.Trp406Ser)
dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.119278293G=CA2003906092CBLc.*675G= (n.*675G=)
c.1223G= (p.Trp408=)
c.1217G= (p.Trp406=)
11g.119278293G>TCA382912919CBLc.*675G>T (n.*675G>T)
c.1223G>T (p.Trp408Leu)
c.1217G>T (p.Trp406Leu)
dbSNP COSMIC
11g.119278294_119278298delCA6318456CBLc.*676_*679+1del
c.1224_1227+1del
c.1218_1221+1del
dbSNP ExAC gnomAD v2
11g.119278294G>ACA382912922CBLc.*676G>A (n.*676G>A)
c.1224G>A (p.Trp408Ter)
c.1218G>A (p.Trp406Ter)
dbSNP
11g.119278294G>CCA382912930CBLc.*676G>C (n.*676G>C)
c.1224G>C (p.Trp408Cys)
c.1218G>C (p.Trp406Cys)
ClinVar dbSNP COSMIC
11g.119278294G>TCA382912931CBLc.*676G>T (n.*676G>T)
c.1224G>T (p.Trp408Cys)
c.1218G>T (p.Trp406Cys)
dbSNP gnomAD v4 COSMIC
11g.119278295C>ACA382912943CBLc.*677C>A (n.*677C>A)
c.1225C>A (p.Gln409Lys)
c.1219C>A (p.Gln407Lys)
11g.119278295C>GCA382912945CBLc.*677C>G (n.*677C>G)
c.1225C>G (p.Gln409Glu)
c.1219C>G (p.Gln407Glu)
dbSNP
11g.119278295C>TCA382912947CBLc.*677C>T (n.*677C>T)
c.1225C>T (p.Gln409Ter)
c.1219C>T (p.Gln407Ter)
dbSNP
11g.119278296A=CA2003906095CBLc.*678A= (n.*678A=)
c.1226A= (p.Gln409=)
c.1220A= (p.Gln407=)
11g.119278296A>CCA382912950CBLc.*678A>C (n.*678A>C)
c.1226A>C (p.Gln409Pro)
c.1220A>C (p.Gln407Pro)
11g.119278296A>GCA382912951CBLc.*678A>G (n.*678A>G)
c.1226A>G (p.Gln409Arg)
c.1220A>G (p.Gln407Arg)
dbSNP gnomAD v2
11g.119278296A>TCA382912948CBLc.*678A>T (n.*678A>T)
c.1226A>T (p.Gln409Leu)
c.1220A>T (p.Gln407Leu)
dbSNP
11g.119278297G>ACA477136219CBLc.*679G>A (n.*679G>A)
c.1227G>A (p.Gln409=)
c.1221G>A (p.Gln407=)
dbSNP
11g.119278297G>CCA382912953CBLc.*679G>C (n.*679G>C)
c.1227G>C (p.Gln409His)
c.1221G>C (p.Gln407His)
dbSNP
11g.119278297G=CA2003906097CBLc.*679G= (n.*679G=)
c.1227G= (p.Gln409=)
c.1221G= (p.Gln407=)
11g.119278297G>TCA382912952CBLc.*679G>T (n.*679G>T)
c.1227G>T (p.Gln409His)
c.1221G>T (p.Gln407His)
dbSNP gnomAD v3 gnomAD v4
11g.119278298dupCA2575031915CBLc.*679+1dup
c.1227+1dup
c.1221+1dup
11g.119278298G>ACA382912955CBLc.*679+1G>A (n.*679+1G>A)
c.1227+1G>A (n.1227+1G>A)
c.1221+1G>A (n.1221+1G>A)
dbSNP gnomAD v4
11g.119278298G>CCA382912954CBLc.*679+1G>C (n.*679+1G>C)
c.1227+1G>C (n.1227+1G>C)
c.1221+1G>C (n.1221+1G>C)
dbSNP
11g.119278298G>TCA382912956CBLc.*679+1G>T (n.*679+1G>T)
c.1227+1G>T (n.1227+1G>T)
c.1221+1G>T (n.1221+1G>T)
11g.119278299T>ACA382912960CBLc.*679+2T>A (n.*679+2T>A)
c.1227+2T>A (n.1227+2T>A)
c.1221+2T>A (n.1221+2T>A)
dbSNP
11g.119278299T>CCA382912962CBLc.*679+2T>C (n.*679+2T>C)
c.1227+2T>C (n.1227+2T>C)
c.1221+2T>C (n.1221+2T>C)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.119278299T>GCA382912963CBLc.*679+2T>G (n.*679+2T>G)
c.1227+2T>G (n.1227+2T>G)
c.1221+2T>G (n.1221+2T>G)
dbSNP
11g.119278299_119278301delinsAAGCA282027CBLc.*679+2_*679+4delinsAAG (n.*679+2_*679+4delinsAAG)
c.1227+2_1227+4delinsAAG (n.1227+2_1227+4delinsAAG)
c.1221+2_1221+4delinsAAG (n.1221+2_1221+4delinsAAG)
ClinVar dbSNP
11g.119278299_119278301delinsTACCA2003906101CBLc.*679+2_*679+4delinsTAC (n.*679+2_*679+4delinsTAC)
c.1227+2_1227+4delinsTAC (n.1227+2_1227+4delinsTAC)
c.1221+2_1221+4delinsTAC (n.1221+2_1221+4delinsTAC)
11g.119278299_119278311delCA2695202280CBLc.*679+2_*679+14del (n.*679+2_*679+14del)
c.1227+2_1227+14del (n.1227+2_1227+14del)
c.1221+2_1221+14del (n.1221+2_1221+14del)
11g.119278300A=CA2003906105CBLc.*679+3A= (n.*679+3A=)
c.1227+3A= (n.1227+3A=)
c.1221+3A= (n.1221+3A=)
11g.119278300A>CCA2724946266CBLc.*679+3A>C (n.*679+3A>C)
c.1227+3A>C (n.1227+3A>C)
c.1221+3A>C (n.1221+3A>C)
dbSNP
11g.119278300A>GCA6318458CBLc.*679+3A>G (n.*679+3A>G)
c.1227+3A>G (n.1227+3A>G)
c.1221+3A>G (n.1221+3A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.119278300A>TCA2724946265CBLc.*679+3A>T (n.*679+3A>T)
c.1227+3A>T (n.1227+3A>T)
c.1221+3A>T (n.1221+3A>T)
dbSNP
11g.119278301C>ACA2724941179CBLc.*679+4C>A (n.*679+4C>A)
c.1227+4C>A (n.1227+4C>A)
c.1221+4C>A (n.1221+4C>A)
dbSNP
11g.119278301C=CA2003906107CBLc.*679+4C= (n.*679+4C=)
c.1227+4C= (n.1227+4C=)
c.1221+4C= (n.1221+4C=)
11g.119278301C>GCA602578943CBLc.*679+4C>G (n.*679+4C>G)
c.1227+4C>G (n.1227+4C>G)
c.1221+4C>G (n.1221+4C>G)
dbSNP gnomAD v2 gnomAD v4
11g.119278301C>TCA135698CBLc.*679+4C>T (n.*679+4C>T)
c.1227+4C>T (n.1227+4C>T)
c.1221+4C>T (n.1221+4C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.119278302G>ACA6318459CBLc.*679+5G>A (n.*679+5G>A)
c.1227+5G>A (n.1227+5G>A)
c.1221+5G>A (n.1221+5G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.119278302G>CCA2580083692CBLc.*679+5G>C (n.*679+5G>C)
c.1227+5G>C (n.1227+5G>C)
c.1221+5G>C (n.1221+5G>C)
ClinVar dbSNP
11g.119278302G=CA2003906110CBLc.*679+5G= (n.*679+5G=)
c.1227+5G= (n.1227+5G=)
c.1221+5G= (n.1221+5G=)
11g.119278302G>TCA2724944584CBLc.*679+5G>T (n.*679+5G>T)
c.1227+5G>T (n.1227+5G>T)
c.1221+5G>T (n.1221+5G>T)
dbSNP
11g.119278302_119278305delCA2695215607CBLc.*679+5_*679+8del (n.*679+5_*679+8del)
c.1227+5_1227+8del (n.1227+5_1227+8del)
c.1221+5_1221+8del (n.1221+5_1221+8del)
11g.119278303G>ACA2725174979CBLc.*679+6G>A (n.*679+6G>A)
c.1227+6G>A (n.1227+6G>A)
c.1221+6G>A (n.1221+6G>A)
dbSNP
11g.119278303G>CCA2725174943CBLc.*679+6G>C (n.*679+6G>C)
c.1227+6G>C (n.1227+6G>C)
c.1221+6G>C (n.1221+6G>C)
dbSNP
11g.119278303G>TCA2725174950CBLc.*679+6G>T (n.*679+6G>T)
c.1227+6G>T (n.1227+6G>T)
c.1221+6G>T (n.1221+6G>T)
dbSNP
11g.119278304A=CA2003906112CBLc.*679+7A= (n.*679+7A=)
c.1227+7A= (n.1227+7A=)
c.1221+7A= (n.1221+7A=)
11g.119278304A>CCA2003906113CBLc.*679+7A>C (n.*679+7A>C)
c.1227+7A>C (n.1227+7A>C)
c.1221+7A>C (n.1221+7A>C)
dbSNP
11g.119278304A>GCA2724997572CBLc.*679+7A>G (n.*679+7A>G)
c.1227+7A>G (n.1227+7A>G)
c.1221+7A>G (n.1221+7A>G)
dbSNP
11g.119278304A>TCA2724997570CBLc.*679+7A>T (n.*679+7A>T)
c.1227+7A>T (n.1227+7A>T)
c.1221+7A>T (n.1221+7A>T)
dbSNP
11g.119278305T>ACA2724946267CBLc.*679+8T>A (n.*679+8T>A)
c.1227+8T>A (n.1227+8T>A)
c.1221+8T>A (n.1221+8T>A)
dbSNP
11g.119278305T>GCA6318460CBLc.*679+8T>G (n.*679+8T>G)
c.1227+8T>G (n.1227+8T>G)
c.1221+8T>G (n.1221+8T>G)
dbSNP ExAC gnomAD v2
11g.119278305T=CA2003906114CBLc.*679+8T= (n.*679+8T=)
c.1227+8T= (n.1227+8T=)
c.1221+8T= (n.1221+8T=)
11g.119278306C>GCA2725174998CBLc.*679+9C>G (n.*679+9C>G)
c.1227+9C>G (n.1227+9C>G)
c.1221+9C>G (n.1221+9C>G)
dbSNP
11g.119278306C>TCA2725174984CBLc.*679+9C>T (n.*679+9C>T)
c.1227+9C>T (n.1227+9C>T)
c.1221+9C>T (n.1221+9C>T)
dbSNP
11g.119278307T>CCA10637375CBLc.*679+10T>C (n.*679+10T>C)
c.1227+10T>C (n.1227+10T>C)
c.1221+10T>C (n.1221+10T>C)
ClinVar dbSNP
11g.119278307T=CA2003906116CBLc.*679+10T= (n.*679+10T=)
c.1227+10T= (n.1227+10T=)
c.1221+10T= (n.1221+10T=)
11g.119278308A>GCA2725175071CBLc.*679+11A>G (n.*679+11A>G)
c.1227+11A>G (n.1227+11A>G)
c.1221+11A>G (n.1221+11A>G)
dbSNP
11g.119278308A>TCA2725175086CBLc.*679+11A>T (n.*679+11A>T)
c.1227+11A>T (n.1227+11A>T)
c.1221+11A>T (n.1221+11A>T)
dbSNP
11g.119278309A>CCA2725175202CBLc.*679+12A>C (n.*679+12A>C)
c.1227+12A>C (n.1227+12A>C)
c.1221+12A>C (n.1221+12A>C)
dbSNP
11g.119278309A>GCA2725175201CBLc.*679+12A>G (n.*679+12A>G)
c.1227+12A>G (n.1227+12A>G)
c.1221+12A>G (n.1221+12A>G)
dbSNP
11g.119278309A>TCA2725175200CBLc.*679+12A>T (n.*679+12A>T)
c.1227+12A>T (n.1227+12A>T)
c.1221+12A>T (n.1221+12A>T)
dbSNP
11g.119278310A>CCA2725175203CBLc.*679+13A>C (n.*679+13A>C)
c.1227+13A>C (n.1227+13A>C)
c.1221+13A>C (n.1221+13A>C)
dbSNP
11g.119278310A>TCA2725175204CBLc.*679+13A>T (n.*679+13A>T)
c.1227+13A>T (n.1227+13A>T)
c.1221+13A>T (n.1221+13A>T)
dbSNP
11g.119278311C>ACA2725175207CBLc.*679+14C>A (n.*679+14C>A)
c.1227+14C>A (n.1227+14C>A)
c.1221+14C>A (n.1221+14C>A)
dbSNP
11g.119278311C>GCA2725175210CBLc.*679+14C>G (n.*679+14C>G)
c.1227+14C>G (n.1227+14C>G)
c.1221+14C>G (n.1221+14C>G)
dbSNP
11g.119278311C>TCA2616387234CBLc.*679+14C>T (n.*679+14C>T)
c.1227+14C>T (n.1227+14C>T)
c.1221+14C>T (n.1221+14C>T)
dbSNP gnomAD v4
11g.119278312A=CA2003906118CBLc.*679+15A= (n.*679+15A=)
c.1227+15A= (n.1227+15A=)
c.1221+15A= (n.1221+15A=)
11g.119278312A>GCA672425431CBLc.*679+15A>G (n.*679+15A>G)
c.1227+15A>G (n.1227+15A>G)
c.1221+15A>G (n.1221+15A>G)
dbSNP gnomAD v3 gnomAD v4
11g.119278312A>TCA2724975273CBLc.*679+15A>T (n.*679+15A>T)
c.1227+15A>T (n.1227+15A>T)
c.1221+15A>T (n.1221+15A>T)
dbSNP
11g.119278313G>ACA2575031920CBLc.*679+16G>A (n.*679+16G>A)
c.1227+16G>A (n.1227+16G>A)
c.1221+16G>A (n.1221+16G>A)
dbSNP gnomAD v4
11g.119278313G>CCA2725175307CBLc.*679+16G>C (n.*679+16G>C)
c.1227+16G>C (n.1227+16G>C)
c.1221+16G>C (n.1221+16G>C)
dbSNP
11g.119278314C>ACA6318461CBLc.*679+17C>A (n.*679+17C>A)
c.1227+17C>A (n.1227+17C>A)
c.1221+17C>A (n.1221+17C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.119278314C=CA2003906120CBLc.*679+17C= (n.*679+17C=)
c.1227+17C= (n.1227+17C=)
c.1221+17C= (n.1221+17C=)
11g.119278314C>GCA2724944177CBLc.*679+17C>G (n.*679+17C>G)
c.1227+17C>G (n.1227+17C>G)
c.1221+17C>G (n.1221+17C>G)
dbSNP
11g.119278314C>TCA6318462CBLc.*679+17C>T (n.*679+17C>T)
c.1227+17C>T (n.1227+17C>T)
c.1221+17C>T (n.1221+17C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.119278315G>ACA6318463CBLc.*679+18G>A (n.*679+18G>A)
c.1227+18G>A (n.1227+18G>A)
c.1221+18G>A (n.1221+18G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.119278315G>CCA2724945839CBLc.*679+18G>C (n.*679+18G>C)
c.1227+18G>C (n.1227+18G>C)
c.1221+18G>C (n.1221+18G>C)
dbSNP
11g.119278315G=CA2003906122CBLc.*679+18G= (n.*679+18G=)
c.1227+18G= (n.1227+18G=)
c.1221+18G= (n.1221+18G=)
11g.119278315G>TCA2724945838CBLc.*679+18G>T (n.*679+18G>T)
c.1227+18G>T (n.1227+18G>T)
c.1221+18G>T (n.1221+18G>T)
dbSNP
11g.119278316A=CA2003906123CBLc.*679+19A= (n.*679+19A=)
c.1227+19A= (n.1227+19A=)
c.1221+19A= (n.1221+19A=)
11g.119278316A>CCA2725175345CBLc.*679+19A>C (n.*679+19A>C)
c.1227+19A>C (n.1227+19A>C)
c.1221+19A>C (n.1221+19A>C)
dbSNP
11g.119278316A>GCA2725175347CBLc.*679+19A>G (n.*679+19A>G)
c.1227+19A>G (n.1227+19A>G)
c.1221+19A>G (n.1221+19A>G)
dbSNP
11g.119278316A>TCA2725175344CBLc.*679+19A>T (n.*679+19A>T)
c.1227+19A>T (n.1227+19A>T)
c.1221+19A>T (n.1221+19A>T)
dbSNP
11g.119278317dupCA6318464CBLc.*679+20dup (n.*679+20dup)
c.1227+20dup (n.1227+20dup)
c.1221+20dup (n.1221+20dup)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched