Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.119206439_119206462dup | CA6318210 | CBL | c.22_45dup (p.Ser15_Gly16insSerSerGlyAlaGlyGlyGlySer) c.16_39dup (p.Ser13_Gly14insSerSerGlyAlaGlyGlyGlySer) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.119206444_119206445delinsTG | CA2003862813 | CBL | c.27_28delinsTG (p.Ser9=) c.21_22delinsTG (p.Ser7=) | |
11 | g.119206445G>A | CA382975681 | CBL | c.28G>A (p.Gly10Arg) c.22G>A (p.Gly8Arg) | gnomAD v4 |
11 | g.119206445G>C | CA382975685 | CBL | c.28G>C (p.Gly10Arg) c.22G>C (p.Gly8Arg) | |
11 | g.119206445G>T | CA382975687 | CBL | c.28G>T (p.Gly10Trp) c.22G>T (p.Gly8Trp) | gnomAD v4 |
11 | g.119206448del | CA6318214 | CBL | c.31del (p.Ala11ProfsTer15) c.25del (p.Ala9ProfsTer15) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.119206447_119206464dup | CA2616383873 | CBL | c.30_47dup (p.Gly16_Ser17insAlaGlyGlyGlySerGly) c.24_41dup (p.Gly14_Ser15insAlaGlyGlyGlySerGly) | gnomAD v4 |
11 | g.119206446G>A | CA382975692 | CBL | c.29G>A (p.Gly10Glu) c.23G>A (p.Gly8Glu) | |
11 | g.119206446G>C | CA382975690 | CBL | c.29G>C (p.Gly10Ala) c.23G>C (p.Gly8Ala) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.119206446G= | CA2003862822 | CBL | c.29G= (p.Gly10=) c.23G= (p.Gly8=) | |
11 | g.119206446G>T | CA382975695 | CBL | c.29G>T (p.Gly10Val) c.23G>T (p.Gly8Val) | gnomAD v4 |
11 | g.119206447G>A | CA477374723 | CBL | c.30G>A (p.Gly10=) c.24G>A (p.Gly8=) | ClinVar dbSNP gnomAD v4 |
11 | g.119206447G>C | CA477374722 | CBL | c.30G>C (p.Gly10=) c.24G>C (p.Gly8=) | |
11 | g.119206447G>T | CA477374721 | CBL | c.30G>T (p.Gly10=) c.24G>T (p.Gly8=) | gnomAD v4 |
11 | g.119206448G>A | CA382975698 | CBL | c.31G>A (p.Ala11Thr) c.25G>A (p.Ala9Thr) | gnomAD v4 |
11 | g.119206448G>C | CA382975700 | CBL | c.31G>C (p.Ala11Pro) c.25G>C (p.Ala9Pro) | gnomAD v4 |
11 | g.119206448G>T | CA382975701 | CBL | c.31G>T (p.Ala11Ser) c.25G>T (p.Ala9Ser) | ClinVar gnomAD v4 |
11 | g.119206449C>A | CA382975706 | CBL | c.32C>A (p.Ala11Asp) c.26C>A (p.Ala9Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.119206449C= | CA2003862824 | CBL | c.32C= (p.Ala11=) c.26C= (p.Ala9=) | |
11 | g.119206449C>G | CA382975709 | CBL | c.32C>G (p.Ala11Gly) c.26C>G (p.Ala9Gly) | ClinVar dbSNP gnomAD v2 |
11 | g.119206449C>T | CA382975711 | CBL | c.32C>T (p.Ala11Val) c.26C>T (p.Ala9Val) | ClinVar dbSNP gnomAD v4 |
11 | g.119206450C>A | CA477374725 | CBL | c.33C>A (p.Ala11=) c.27C>A (p.Ala9=) | gnomAD v4 |
11 | g.119206450C= | CA2003862827 | CBL | c.33C= (p.Ala11=) c.27C= (p.Ala9=) | |
11 | g.119206450C>G | CA477374724 | CBL | c.33C>G (p.Ala11=) c.27C>G (p.Ala9=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.119206450C>T | CA6318215 | CBL | c.33C>T (p.Ala11=) c.27C>T (p.Ala9=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.119206453_119206458dup | CA2616383929 | CBL | c.36_41dup (p.Gly14_Ser15insGlyGly) c.30_35dup (p.Gly12_Ser13insGlyGly) | gnomAD v4 |
11 | g.119206451G>A | CA382975718 | CBL | c.34G>A (p.Gly12Arg) c.28G>A (p.Gly10Arg) | dbSNP gnomAD v4 |
11 | g.119206451G>C | CA382975725 | CBL | c.34G>C (p.Gly12Arg) c.28G>C (p.Gly10Arg) | dbSNP gnomAD v4 |
11 | g.119206451G= | CA2003862831 | CBL | c.34G= (p.Gly12=) c.28G= (p.Gly10=) | |
11 | g.119206451G>T | CA229653580 | CBL | c.34G>T (p.Gly12Trp) c.28G>T (p.Gly10Trp) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.119206455dup | CA2616383970 | CBL | c.38dup (p.Gly14ArgfsTer?) c.32dup (p.Gly12ArgfsTer?) | gnomAD v4 |
11 | g.119206455del | CA602578768 | CBL | c.38del (p.Gly13AlafsTer13) c.32del (p.Gly11AlafsTer13) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.119206452G>A | CA382975732 | CBL | c.35G>A (p.Gly12Glu) c.29G>A (p.Gly10Glu) | gnomAD v4 |
11 | g.119206452G>C | CA382975736 | CBL | c.35G>C (p.Gly12Ala) c.29G>C (p.Gly10Ala) | |
11 | g.119206452G= | CA2003862834 | CBL | c.35G= (p.Gly12=) c.29G= (p.Gly10=) | |
11 | g.119206452G>T | CA229653586 | CBL | c.35G>T (p.Gly12Val) c.29G>T (p.Gly10Val) | dbSNP gnomAD v4 |
11 | g.119206453G>A | CA6318216 | CBL | c.36G>A (p.Gly12=) c.30G>A (p.Gly10=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.119206453G>C | CA477374727 | CBL | c.36G>C (p.Gly12=) c.30G>C (p.Gly10=) | |
11 | g.119206453G= | CA2003862840 | CBL | c.36G= (p.Gly12=) c.30G= (p.Gly10=) | |
11 | g.119206453G>T | CA477374726 | CBL | c.36G>T (p.Gly12=) c.30G>T (p.Gly10=) | gnomAD v4 COSMIC |
11 | g.119206454G>A | CA382975743 | CBL | c.37G>A (p.Gly13Ser) c.31G>A (p.Gly11Ser) | ClinVar gnomAD v4 |
11 | g.119206454G>C | CA382975746 | CBL | c.37G>C (p.Gly13Arg) c.31G>C (p.Gly11Arg) | |
11 | g.119206454G>T | CA382975749 | CBL | c.37G>T (p.Gly13Cys) c.31G>T (p.Gly11Cys) | gnomAD v4 |
11 | g.119206455G>A | CA6318217 | CBL | c.38G>A (p.Gly13Asp) c.32G>A (p.Gly11Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.119206455G>C | CA382975756 | CBL | c.38G>C (p.Gly13Ala) c.32G>C (p.Gly11Ala) | |
11 | g.119206455G= | CA2003862844 | CBL | c.38G= (p.Gly13=) c.32G= (p.Gly11=) | |
11 | g.119206455G>T | CA382975760 | CBL | c.38G>T (p.Gly13Val) c.32G>T (p.Gly11Val) | gnomAD v4 |
11 | g.119206460_119206465dup | CA2616384003 | CBL | c.43_48dup (p.Gly16_Ser17insSerGly) c.37_42dup (p.Gly14_Ser15insSerGly) | gnomAD v4 |
11 | g.119206456C>A | CA477374729 | CBL | c.39C>A (p.Gly13=) c.33C>A (p.Gly11=) | gnomAD v4 |
11 | g.119206456C= | CA2003862847 | CBL | c.39C= (p.Gly13=) c.33C= (p.Gly11=) |