Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.119206535_119206546dup | CA2838032525 | CBL | c.118_129dup (p.Leu43_Ser44insHisHisHisLeu) c.112_123dup (p.Leu41_Ser42insHisHisHisLeu) | |
11 | g.119206538_119206546dup | CA2580083641 | CBL | c.121_129dup (p.Leu43_Ser44insHisHisLeu) c.115_123dup (p.Leu41_Ser42insHisHisLeu) | ClinVar |
11 | g.119206544_119206546dup | CA658797813 | CBL | c.127_129dup (p.Leu43_Ser44insLeu) c.121_123dup (p.Leu41_Ser42insLeu) | ClinVar dbSNP |
11 | g.119206545T>A | CA382976308 | CBL | c.128T>A (p.Leu43His) c.122T>A (p.Leu41His) | |
11 | g.119206545T>C | CA382976310 | CBL | c.128T>C (p.Leu43Pro) c.122T>C (p.Leu41Pro) | |
11 | g.119206545T>G | CA382976312 | CBL | c.128T>G (p.Leu43Arg) c.122T>G (p.Leu41Arg) | |
11 | g.119206546C>A | CA477374841 | CBL | c.129C>A (p.Leu43=) c.123C>A (p.Leu41=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.119206546C= | CA2003863086 | CBL | c.129C= (p.Leu43=) c.123C= (p.Leu41=) | |
11 | g.119206546C>G | CA477374839 | CBL | c.129C>G (p.Leu43=) c.123C>G (p.Leu41=) | |
11 | g.119206546C>T | CA477374840 | CBL | c.129C>T (p.Leu43=) c.123C>T (p.Leu41=) | ClinVar dbSNP gnomAD v4 |
11 | g.119206547A>C | CA382976314 | CBL | c.130A>C (p.Ser44Arg) c.124A>C (p.Ser42Arg) | |
11 | g.119206547A>G | CA382976317 | CBL | c.130A>G (p.Ser44Gly) c.124A>G (p.Ser42Gly) | |
11 | g.119206547A>T | CA382976318 | CBL | c.130A>T (p.Ser44Cys) c.124A>T (p.Ser42Cys) | |
11 | g.119206548G>A | CA382976320 | CBL | c.131G>A (p.Ser44Asn) c.125G>A (p.Ser42Asn) | |
11 | g.119206548G>C | CA382976322 | CBL | c.131G>C (p.Ser44Thr) c.125G>C (p.Ser42Thr) | |
11 | g.119206548G>T | CA382976324 | CBL | c.131G>T (p.Ser44Ile) c.125G>T (p.Ser42Ile) | |
11 | g.119206549C>A | CA382976326 | CBL | c.132C>A (p.Ser44Arg) c.126C>A (p.Ser42Arg) | dbSNP |
11 | g.119206549C= | CA2003863091 | CBL | c.132C= (p.Ser44=) c.126C= (p.Ser42=) | |
11 | g.119206549C>G | CA382976329 | CBL | c.132C>G (p.Ser44Arg) c.126C>G (p.Ser42Arg) | gnomAD v4 |
11 | g.119206549C>T | CA477374850 | CBL | c.132C>T (p.Ser44=) c.126C>T (p.Ser42=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
11 | g.119206553dup | CA1139625450 | CBL | c.136dup (p.His46ProfsTer24) c.136dup (p.His46ProfsTer?) c.130dup (p.His44ProfsTer?) | |
11 | g.119206553del | CA2725115831 | CBL | c.136del (p.His46ThrfsTer?) c.130del (p.His44ThrfsTer?) | dbSNP |
11 | g.119206550C>A | CA382976333 | CBL | c.133C>A (p.Pro45Thr) c.127C>A (p.Pro43Thr) | gnomAD v4 |
11 | g.119206550C>G | CA382976334 | CBL | c.133C>G (p.Pro45Ala) c.127C>G (p.Pro43Ala) | |
11 | g.119206550C>T | CA382976331 | CBL | c.133C>T (p.Pro45Ser) c.127C>T (p.Pro43Ser) | |
11 | g.119206551C>A | CA382976338 | CBL | c.134C>A (p.Pro45His) c.128C>A (p.Pro43His) | gnomAD v4 |
11 | g.119206551C>G | CA382976342 | CBL | c.134C>G (p.Pro45Arg) c.128C>G (p.Pro43Arg) | |
11 | g.119206551C>T | CA382976340 | CBL | c.134C>T (p.Pro45Leu) c.128C>T (p.Pro43Leu) | |
11 | g.119206552C>A | CA477374857 | CBL | c.135C>A (p.Pro45=) c.129C>A (p.Pro43=) | gnomAD v4 |
11 | g.119206552C>G | CA477374858 | CBL | c.135C>G (p.Pro45=) c.129C>G (p.Pro43=) | |
11 | g.119206552C>T | CA477374859 | CBL | c.135C>T (p.Pro45=) c.129C>T (p.Pro43=) | |
11 | g.119206553C>A | CA382976343 | CBL | c.136C>A (p.His46Asn) c.130C>A (p.His44Asn) | ClinVar gnomAD v4 |
11 | g.119206553C= | CA2003863094 | CBL | c.136C= (p.His46=) c.130C= (p.His44=) | |
11 | g.119206553C>G | CA382976344 | CBL | c.136C>G (p.His46Asp) c.130C>G (p.His44Asp) | |
11 | g.119206553C>T | CA229653748 | CBL | c.136C>T (p.His46Tyr) c.130C>T (p.His44Tyr) | ClinVar dbSNP |
11 | g.119206554A>C | CA382976345 | CBL | c.137A>C (p.His46Pro) c.131A>C (p.His44Pro) | |
11 | g.119206554A>G | CA382976348 | CBL | c.137A>G (p.His46Arg) c.131A>G (p.His44Arg) | |
11 | g.119206554A>T | CA382976346 | CBL | c.137A>T (p.His46Leu) c.131A>T (p.His44Leu) | |
11 | g.119206555C>A | CA382976350 | CBL | c.138C>A (p.His46Gln) c.132C>A (p.His44Gln) | gnomAD v4 |
11 | g.119206555C>G | CA382976355 | CBL | c.138C>G (p.His46Gln) c.132C>G (p.His44Gln) | |
11 | g.119206555C>T | CA477374869 | CBL | c.138C>T (p.His46=) c.132C>T (p.His44=) | |
11 | g.119206557dup | CA2573331814 | CBL | c.140dup (p.Pro48AlafsTer22) c.140dup (p.Pro48AlafsTer?) c.134dup (p.Pro46AlafsTer?) | |
11 | g.119206556C>A | CA382976358 | CBL | c.139C>A (p.Pro47Thr) c.133C>A (p.Pro45Thr) | gnomAD v4 |
11 | g.119206556C>G | CA382976359 | CBL | c.139C>G (p.Pro47Ala) c.133C>G (p.Pro45Ala) | |
11 | g.119206556C>T | CA382976363 | CBL | c.139C>T (p.Pro47Ser) c.133C>T (p.Pro45Ser) | gnomAD v4 |
11 | g.119206557C>A | CA382976364 | CBL | c.140C>A (p.Pro47Gln) c.134C>A (p.Pro45Gln) | |
11 | g.119206557C= | CA2003863099 | CBL | c.140C= (p.Pro47=) c.134C= (p.Pro45=) | |
11 | g.119206557C>G | CA382976365 | CBL | c.140C>G (p.Pro47Arg) c.134C>G (p.Pro45Arg) | |
11 | g.119206557C>T | CA6318234 | CBL | c.140C>T (p.Pro47Leu) c.134C>T (p.Pro45Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.119206558G>A | CA229653754 | CBL | c.141G>A (p.Pro47=) c.135G>A (p.Pro45=) | ClinVar dbSNP gnomAD v4 |