Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.119206535_119206546dupCA2838032525CBLc.118_129dup (p.Leu43_Ser44insHisHisHisLeu)
c.112_123dup (p.Leu41_Ser42insHisHisHisLeu)
11g.119206538_119206546dupCA2580083641CBLc.121_129dup (p.Leu43_Ser44insHisHisLeu)
c.115_123dup (p.Leu41_Ser42insHisHisLeu)
ClinVar
11g.119206544_119206546dupCA658797813CBLc.127_129dup (p.Leu43_Ser44insLeu)
c.121_123dup (p.Leu41_Ser42insLeu)
ClinVar dbSNP
11g.119206545T>ACA382976308CBLc.128T>A (p.Leu43His)
c.122T>A (p.Leu41His)
11g.119206545T>CCA382976310CBLc.128T>C (p.Leu43Pro)
c.122T>C (p.Leu41Pro)
11g.119206545T>GCA382976312CBLc.128T>G (p.Leu43Arg)
c.122T>G (p.Leu41Arg)
11g.119206546C>ACA477374841CBLc.129C>A (p.Leu43=)
c.123C>A (p.Leu41=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.119206546C=CA2003863086CBLc.129C= (p.Leu43=)
c.123C= (p.Leu41=)
11g.119206546C>GCA477374839CBLc.129C>G (p.Leu43=)
c.123C>G (p.Leu41=)
11g.119206546C>TCA477374840CBLc.129C>T (p.Leu43=)
c.123C>T (p.Leu41=)
ClinVar dbSNP gnomAD v4
11g.119206547A>CCA382976314CBLc.130A>C (p.Ser44Arg)
c.124A>C (p.Ser42Arg)
11g.119206547A>GCA382976317CBLc.130A>G (p.Ser44Gly)
c.124A>G (p.Ser42Gly)
11g.119206547A>TCA382976318CBLc.130A>T (p.Ser44Cys)
c.124A>T (p.Ser42Cys)
11g.119206548G>ACA382976320CBLc.131G>A (p.Ser44Asn)
c.125G>A (p.Ser42Asn)
11g.119206548G>CCA382976322CBLc.131G>C (p.Ser44Thr)
c.125G>C (p.Ser42Thr)
11g.119206548G>TCA382976324CBLc.131G>T (p.Ser44Ile)
c.125G>T (p.Ser42Ile)
11g.119206549C>ACA382976326CBLc.132C>A (p.Ser44Arg)
c.126C>A (p.Ser42Arg)
dbSNP
11g.119206549C=CA2003863091CBLc.132C= (p.Ser44=)
c.126C= (p.Ser42=)
11g.119206549C>GCA382976329CBLc.132C>G (p.Ser44Arg)
c.126C>G (p.Ser42Arg)
gnomAD v4
11g.119206549C>TCA477374850CBLc.132C>T (p.Ser44=)
c.126C>T (p.Ser42=)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.119206553dupCA1139625450CBLc.136dup (p.His46ProfsTer24)
c.136dup (p.His46ProfsTer?)
c.130dup (p.His44ProfsTer?)
11g.119206553delCA2725115831CBLc.136del (p.His46ThrfsTer?)
c.130del (p.His44ThrfsTer?)
dbSNP
11g.119206550C>ACA382976333CBLc.133C>A (p.Pro45Thr)
c.127C>A (p.Pro43Thr)
gnomAD v4
11g.119206550C>GCA382976334CBLc.133C>G (p.Pro45Ala)
c.127C>G (p.Pro43Ala)
11g.119206550C>TCA382976331CBLc.133C>T (p.Pro45Ser)
c.127C>T (p.Pro43Ser)
11g.119206551C>ACA382976338CBLc.134C>A (p.Pro45His)
c.128C>A (p.Pro43His)
gnomAD v4
11g.119206551C>GCA382976342CBLc.134C>G (p.Pro45Arg)
c.128C>G (p.Pro43Arg)
11g.119206551C>TCA382976340CBLc.134C>T (p.Pro45Leu)
c.128C>T (p.Pro43Leu)
11g.119206552C>ACA477374857CBLc.135C>A (p.Pro45=)
c.129C>A (p.Pro43=)
gnomAD v4
11g.119206552C>GCA477374858CBLc.135C>G (p.Pro45=)
c.129C>G (p.Pro43=)
11g.119206552C>TCA477374859CBLc.135C>T (p.Pro45=)
c.129C>T (p.Pro43=)
11g.119206553C>ACA382976343CBLc.136C>A (p.His46Asn)
c.130C>A (p.His44Asn)
ClinVar gnomAD v4
11g.119206553C=CA2003863094CBLc.136C= (p.His46=)
c.130C= (p.His44=)
11g.119206553C>GCA382976344CBLc.136C>G (p.His46Asp)
c.130C>G (p.His44Asp)
11g.119206553C>TCA229653748CBLc.136C>T (p.His46Tyr)
c.130C>T (p.His44Tyr)
ClinVar dbSNP
11g.119206554A>CCA382976345CBLc.137A>C (p.His46Pro)
c.131A>C (p.His44Pro)
11g.119206554A>GCA382976348CBLc.137A>G (p.His46Arg)
c.131A>G (p.His44Arg)
11g.119206554A>TCA382976346CBLc.137A>T (p.His46Leu)
c.131A>T (p.His44Leu)
11g.119206555C>ACA382976350CBLc.138C>A (p.His46Gln)
c.132C>A (p.His44Gln)
gnomAD v4
11g.119206555C>GCA382976355CBLc.138C>G (p.His46Gln)
c.132C>G (p.His44Gln)
11g.119206555C>TCA477374869CBLc.138C>T (p.His46=)
c.132C>T (p.His44=)
11g.119206557dupCA2573331814CBLc.140dup (p.Pro48AlafsTer22)
c.140dup (p.Pro48AlafsTer?)
c.134dup (p.Pro46AlafsTer?)
11g.119206556C>ACA382976358CBLc.139C>A (p.Pro47Thr)
c.133C>A (p.Pro45Thr)
gnomAD v4
11g.119206556C>GCA382976359CBLc.139C>G (p.Pro47Ala)
c.133C>G (p.Pro45Ala)
11g.119206556C>TCA382976363CBLc.139C>T (p.Pro47Ser)
c.133C>T (p.Pro45Ser)
gnomAD v4
11g.119206557C>ACA382976364CBLc.140C>A (p.Pro47Gln)
c.134C>A (p.Pro45Gln)
11g.119206557C=CA2003863099CBLc.140C= (p.Pro47=)
c.134C= (p.Pro45=)
11g.119206557C>GCA382976365CBLc.140C>G (p.Pro47Arg)
c.134C>G (p.Pro45Arg)
11g.119206557C>TCA6318234CBLc.140C>T (p.Pro47Leu)
c.134C>T (p.Pro45Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.119206558G>ACA229653754CBLc.141G>A (p.Pro47=)
c.135G>A (p.Pro45=)
ClinVar dbSNP gnomAD v4

Number of alleles fetched