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.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)

Number of alleles fetched