Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.119278167_119278714delCA645576430CBLc.*549_*883+1del
c.1097_1431+1del
c.1091_1425+1del
 COSMIC
11g.119278260_119278570delCA645576443CBLc.*642_*740del
c.1190_1288del
c.1184_1282del
 COSMIC
11g.119278541G>ACA123490CBLc.*711G>A (n.*711G>A)
c.1259G>A (p.Arg420Gln)
c.1253G>A (p.Arg418Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.119278541G>CCA382913844CBLc.*711G>C (n.*711G>C)
c.1259G>C (p.Arg420Pro)
c.1253G>C (p.Arg418Pro)
 ClinVar dbSNP gnomAD v4 COSMIC
11g.119278541G=CA2003906322CBLc.*711G= (n.*711G=)
c.1259G= (p.Arg420=)
c.1253G= (p.Arg418=)
11g.119278541G>TCA382913849CBLc.*711G>T (n.*711G>T)
c.1259G>T (p.Arg420Leu)
c.1253G>T (p.Arg418Leu)
 ClinVar dbSNP gnomAD v4 COSMIC
11g.119278542A=CA2003906324CBLc.*712A= (n.*712A=)
c.1260A= (p.Arg420=)
c.1254A= (p.Arg418=)
11g.119278542A>CCA477137345CBLc.*712A>C (n.*712A>C)
c.1260A>C (p.Arg420=)
c.1254A>C (p.Arg418=)
11g.119278542A>GCA477137347CBLc.*712A>G (n.*712A>G)
c.1260A>G (p.Arg420=)
c.1254A>G (p.Arg418=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.119278542A>TCA477137352CBLc.*712A>T (n.*712A>T)
c.1260A>T (p.Arg420=)
c.1254A>T (p.Arg418=)
 dbSNP
11g.119278543T>ACA382913858CBLc.*713T>A (n.*713T>A)
c.1261T>A (p.Cys421Ser)
c.1255T>A (p.Cys419Ser)
 dbSNP
11g.119278543T>CCA382913862CBLc.*713T>C (n.*713T>C)
c.1261T>C (p.Cys421Arg)
c.1255T>C (p.Cys419Arg)
 gnomAD v4
11g.119278543T>GCA382913855CBLc.*713T>G (n.*713T>G)
c.1261T>G (p.Cys421Gly)
c.1255T>G (p.Cys419Gly)
11g.119278544G>ACA382913870CBLc.*714G>A (n.*714G>A)
c.1262G>A (p.Cys421Tyr)
c.1256G>A (p.Cys419Tyr)
 dbSNP
11g.119278544G>CCA382913866CBLc.*714G>C (n.*714G>C)
c.1262G>C (p.Cys421Ser)
c.1256G>C (p.Cys419Ser)
 dbSNP
11g.119278544G>TCA382913869CBLc.*714G>T (n.*714G>T)
c.1262G>T (p.Cys421Phe)
c.1256G>T (p.Cys419Phe)
 dbSNP
11g.119278545T>ACA382913871CBLc.*715T>A (n.*715T>A)
c.1263T>A (p.Cys421Ter)
c.1257T>A (p.Cys419Ter)
 dbSNP gnomAD v4
11g.119278545T>CCA477137385CBLc.*715T>C (n.*715T>C)
c.1263T>C (p.Cys421=)
c.1257T>C (p.Cys419=)
11g.119278545T>GCA382913872CBLc.*715T>G (n.*715T>G)
c.1263T>G (p.Cys421Trp)
c.1257T>G (p.Cys419Trp)
 ClinVar dbSNP COSMIC
11g.119278545T=CA2003906327CBLc.*715T= (n.*715T=)
c.1263T= (p.Cys421=)
c.1257T= (p.Cys419=)
11g.119278549_119278563delCA645576447CBLc.*719_*733del (n.*719_*733del)
c.1267_1281del (p.Ile423_Glu427del)
c.1261_1275del (p.Ile421_Glu425del)
 COSMIC
11g.119278546G>ACA382913874CBLc.*716G>A (n.*716G>A)
c.1264G>A (p.Glu422Lys)
c.1258G>A (p.Glu420Lys)
 dbSNP
11g.119278546G>CCA382913875CBLc.*716G>C (n.*716G>C)
c.1264G>C (p.Glu422Gln)
c.1258G>C (p.Glu420Gln)
 dbSNP
11g.119278546G>TCA382913877CBLc.*716G>T (n.*716G>T)
c.1264G>T (p.Glu422Ter)
c.1258G>T (p.Glu420Ter)
11g.119278546_119278547delinsGACA2003906330CBLc.*716_*717delinsGA (n.*716_*717delinsGA)
c.1264_1265delinsGA (p.Glu422=)
c.1258_1259delinsGA (p.Glu420=)
11g.119278547A>CCA382913889CBLc.*717A>C (n.*717A>C)
c.1265A>C (p.Glu422Ala)
c.1259A>C (p.Glu420Ala)
11g.119278547A>GCA382913884CBLc.*717A>G (n.*717A>G)
c.1265A>G (p.Glu422Gly)
c.1259A>G (p.Glu420Gly)
11g.119278547A>TCA382913885CBLc.*717A>T (n.*717A>T)
c.1265A>T (p.Glu422Val)
c.1259A>T (p.Glu420Val)
 dbSNP
11g.119278549delCA229662000CBLc.*719del (n.*719del)
c.1267del (p.Ile423LeufsTer9)
c.1261del (p.Ile421LeufsTer9)
 dbSNP
11g.119278548A>CCA382913893CBLc.*718A>C (n.*718A>C)
c.1266A>C (p.Glu422Asp)
c.1260A>C (p.Glu420Asp)
11g.119278548A>GCA477137419CBLc.*718A>G (n.*718A>G)
c.1266A>G (p.Glu422=)
c.1260A>G (p.Glu420=)
 gnomAD v4
11g.119278548A>TCA382913896CBLc.*718A>T (n.*718A>T)
c.1266A>T (p.Glu422Asp)
c.1260A>T (p.Glu420Asp)
 dbSNP
11g.119278548_119278557delinsAATTAAAGGTCA2003906332CBLc.*718_*727delinsAATTAAAGGT (n.*718_*727delinsAATTAAAGGT)
c.1266_1275delinsAATTAAAGGT (p.Glu422=)
c.1260_1269delinsAATTAAAGGT (p.Glu420=)
11g.119278549A>CCA382913900CBLc.*719A>C (n.*719A>C)
c.1267A>C (p.Ile423Leu)
c.1261A>C (p.Ile421Leu)
11g.119278549A>GCA382913902CBLc.*719A>G (n.*719A>G)
c.1267A>G (p.Ile423Val)
c.1261A>G (p.Ile421Val)
11g.119278549A>TCA382913917CBLc.*719A>T (n.*719A>T)
c.1267A>T (p.Ile423Phe)
c.1261A>T (p.Ile421Phe)
 COSMIC
11g.119278550_119278558delCA2003906334CBLc.*720_*728del (n.*720_*728del)
c.1268_1276del (p.Ile423_Gly425del)
c.1262_1270del (p.Ile421_Gly423del)
 dbSNP
11g.119278550T>ACA229662003CBLc.*720T>A (n.*720T>A)
c.1268T>A (p.Ile423Asn)
c.1262T>A (p.Ile421Asn)
 dbSNP gnomAD v4
11g.119278550T>CCA382913926CBLc.*720T>C (n.*720T>C)
c.1268T>C (p.Ile423Thr)
c.1262T>C (p.Ile421Thr)
 dbSNP
11g.119278550T>GCA382913924CBLc.*720T>G (n.*720T>G)
c.1268T>G (p.Ile423Ser)
c.1262T>G (p.Ile421Ser)
 dbSNP
11g.119278550T=CA2003906336CBLc.*720T= (n.*720T=)
c.1268T= (p.Ile423=)
c.1262T= (p.Ile421=)
11g.119278552_119278584delCA2575031981CBLc.*722_*754del (n.*722_*754del)
c.1270_1302del (p.Lys424_Phe434del)
c.1264_1296del (p.Lys422_Phe432del)
11g.119278551T>ACA477137442CBLc.*721T>A (n.*721T>A)
c.1269T>A (p.Ile423=)
c.1263T>A (p.Ile421=)
11g.119278551T>CCA477137444CBLc.*721T>C (n.*721T>C)
c.1269T>C (p.Ile423=)
c.1263T>C (p.Ile421=)
11g.119278551T>GCA382913929CBLc.*721T>G (n.*721T>G)
c.1269T>G (p.Ile423Met)
c.1263T>G (p.Ile421Met)
 gnomAD v4
11g.119278552A>CCA382913933CBLc.*722A>C (n.*722A>C)
c.1270A>C (p.Lys424Gln)
c.1264A>C (p.Lys422Gln)
11g.119278552A>GCA382913934CBLc.*722A>G (n.*722A>G)
c.1270A>G (p.Lys424Glu)
c.1264A>G (p.Lys422Glu)
 dbSNP
11g.119278552A>TCA382913936CBLc.*722A>T (n.*722A>T)
c.1270A>T (p.Lys424Ter)
c.1264A>T (p.Lys422Ter)
 dbSNP
11g.119278553A>CCA382913939CBLc.*723A>C (n.*723A>C)
c.1271A>C (p.Lys424Thr)
c.1265A>C (p.Lys422Thr)
11g.119278553A>GCA382913942CBLc.*723A>G (n.*723A>G)
c.1271A>G (p.Lys424Arg)
c.1265A>G (p.Lys422Arg)

Number of alleles fetched