Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.119278069_119278256delinsCGG | CA645576427 | CBL | c.*548-97_*638delinsCGG c.1096-97_1186delinsCGG c.1090-97_1180delinsCGG | COSMIC |
11 | g.119278167_119278714del | CA645576430 | CBL | c.*549_*883+1del c.1097_1431+1del c.1091_1425+1del | COSMIC |
11 | g.119278167_119278298del | CA645576432 | CBL | c.*549_*679+1del c.1097_1227+1del c.1091_1221+1del | COSMIC |
11 | g.119278167_119278193del | CA2580611939 | CBL | c.*549_*575del c.1097_1123del c.1091_1117del | |
11 | g.119278174_119278182del | CA2695215604 | CBL | c.*556_*564del (n.*556_*564del) c.1104_1112del (p.Glu369_Tyr371del) c.1098_1106del (p.Glu367_Tyr369del) | |
11 | g.119278176_119278241del | CA645576435 | CBL | c.*558_*623del (n.*558_*623del) c.1106_1171del (p.Glu369_Asp390del) c.1100_1165del (p.Glu367_Asp388del) | COSMIC COSMIC |
11 | g.119278177_119278188del | CA2697559051 | CBL | c.*559_*570del (n.*559_*570del) c.1107_1118del (p.Leu370_Glu373del) c.1101_1112del (p.Leu368_Glu371del) | ClinVar |
11 | g.119278179_119278513del | CA645576437 | CBL | c.*561_*683del c.1109_1231del c.1103_1225del | COSMIC |
11 | g.119278179_119278181dup | CA645576438 | CBL | c.*561_*563dup (n.*561_*563dup) c.1109_1111dup (p.Leu370_Tyr371insLeu) c.1103_1105dup (p.Leu368_Tyr369insLeu) | ClinVar COSMIC |
11 | g.119278179_119278183delinsCGAGGGTT | CA645576439 | CBL | c.*561_*565delinsCGAGGGTT (n.*561_*565delinsCGAGGGTT) c.1109_1113delinsCGAGGGTT (p.Leu370_Tyr371delinsSerArgVal) c.1103_1107delinsCGAGGGTT (p.Leu368_Tyr369delinsSerArgVal) | COSMIC |
11 | g.119278180_119278182del | CA2695215605 | CBL | c.*562_*564del (n.*562_*564del) c.1110_1112del (p.Leu370_Tyr371delinsPhe) c.1104_1106del (p.Leu368_Tyr369delinsPhe) | |
11 | g.119278181T>A | CA296015 | CBL | c.*563T>A (n.*563T>A) c.1111T>A (p.Tyr371Asn) c.1105T>A (p.Tyr369Asn) | ClinVar dbSNP gnomAD v4 COSMIC |
11 | g.119278181T>C | CA123492 | CBL | c.*563T>C (n.*563T>C) c.1111T>C (p.Tyr371His) c.1105T>C (p.Tyr369His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.119278181T>G | CA382912301 | CBL | c.*563T>G (n.*563T>G) c.1111T>G (p.Tyr371Asp) c.1105T>G (p.Tyr369Asp) | ClinVar dbSNP gnomAD v4 COSMIC |
11 | g.119278181T= | CA2003905836 | CBL | c.*563T= (n.*563T=) c.1111T= (p.Tyr371=) c.1105T= (p.Tyr369=) | |
11 | g.119278182_119278184del | CA2573146903 | CBL | c.*564_*566del (n.*564_*566del) c.1112_1114del (p.Tyr371del) c.1106_1108del (p.Tyr369del) | ClinVar dbSNP |
11 | g.119278182A= | CA2003905846 | CBL | c.*564A= (n.*564A=) c.1112A= (p.Tyr371=) c.1106A= (p.Tyr369=) | |
11 | g.119278182A>C | CA382912305 | CBL | c.*564A>C (n.*564A>C) c.1112A>C (p.Tyr371Ser) c.1106A>C (p.Tyr369Ser) | ClinVar dbSNP gnomAD v4 COSMIC |
11 | g.119278182A>G | CA128671 | CBL | c.*564A>G (n.*564A>G) c.1112A>G (p.Tyr371Cys) c.1106A>G (p.Tyr369Cys) | ClinVar dbSNP gnomAD v4 COSMIC |
11 | g.119278182A>T | CA382912312 | CBL | c.*564A>T (n.*564A>T) c.1112A>T (p.Tyr371Phe) c.1106A>T (p.Tyr369Phe) | ClinVar dbSNP |
11 | g.119278182_119278183delinsAC | CA2003905855 | CBL | c.*564_*565delinsAC (n.*564_*565delinsAC) c.1112_1113delinsAC (p.Tyr371=) c.1106_1107delinsAC (p.Tyr369=) | |
11 | g.119278183del | CA602578942 | CBL | c.*565del (n.*565del) c.1113del (p.Cys372ValfsTer20) c.1107del (p.Cys370ValfsTer20) | dbSNP gnomAD v2 |
11 | g.119278183C>A | CA382912315 | CBL | c.*565C>A (n.*565C>A) c.1113C>A (p.Tyr371Ter) c.1107C>A (p.Tyr369Ter) | dbSNP |
11 | g.119278183C= | CA2003905862 | CBL | c.*565C= (n.*565C=) c.1113C= (p.Tyr371=) c.1107C= (p.Tyr369=) | |
11 | g.119278183C>G | CA382912314 | CBL | c.*565C>G (n.*565C>G) c.1113C>G (p.Tyr371Ter) c.1107C>G (p.Tyr369Ter) | dbSNP |
11 | g.119278183C>T | CA477135390 | CBL | c.*565C>T (n.*565C>T) c.1113C>T (p.Tyr371=) c.1107C>T (p.Tyr369=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.119278184T>A | CA382912318 | CBL | c.*566T>A (n.*566T>A) c.1114T>A (p.Cys372Ser) c.1108T>A (p.Cys370Ser) | |
11 | g.119278184T>C | CA382912321 | CBL | c.*566T>C (n.*566T>C) c.1114T>C (p.Cys372Arg) c.1108T>C (p.Cys370Arg) | |
11 | g.119278184T>G | CA382912324 | CBL | c.*566T>G (n.*566T>G) c.1114T>G (p.Cys372Gly) c.1108T>G (p.Cys370Gly) | |
11 | g.119278186_119278187del | CA2616387488 | CBL | c.*568_*569del (n.*568_*569del) c.1116_1117del (p.Cys372Ter) c.1110_1111del (p.Cys370Ter) | gnomAD v4 |
11 | g.119278185G>A | CA382912327 | CBL | c.*567G>A (n.*567G>A) c.1115G>A (p.Cys372Tyr) c.1109G>A (p.Cys370Tyr) | dbSNP |
11 | g.119278185G>C | CA382912328 | CBL | c.*567G>C (n.*567G>C) c.1115G>C (p.Cys372Ser) c.1109G>C (p.Cys370Ser) | dbSNP |
11 | g.119278185G>T | CA382912331 | CBL | c.*567G>T (n.*567G>T) c.1115G>T (p.Cys372Phe) c.1109G>T (p.Cys370Phe) | dbSNP |
11 | g.119278186T>A | CA382912338 | CBL | c.*568T>A (n.*568T>A) c.1116T>A (p.Cys372Ter) c.1110T>A (p.Cys370Ter) | dbSNP |
11 | g.119278186T>C | CA477135413 | CBL | c.*568T>C (n.*568T>C) c.1116T>C (p.Cys372=) c.1110T>C (p.Cys370=) | |
11 | g.119278186T>G | CA382912335 | CBL | c.*568T>G (n.*568T>G) c.1116T>G (p.Cys372Trp) c.1110T>G (p.Cys370Trp) | |
11 | g.119278187G>A | CA382912340 | CBL | c.*569G>A (n.*569G>A) c.1117G>A (p.Glu373Lys) c.1111G>A (p.Glu371Lys) | |
11 | g.119278187G>C | CA382912342 | CBL | c.*569G>C (n.*569G>C) c.1117G>C (p.Glu373Gln) c.1111G>C (p.Glu371Gln) | dbSNP |
11 | g.119278187G>T | CA382912345 | CBL | c.*569G>T (n.*569G>T) c.1117G>T (p.Glu373Ter) c.1111G>T (p.Glu371Ter) | |
11 | g.119278188A>C | CA382912348 | CBL | c.*570A>C (n.*570A>C) c.1118A>C (p.Glu373Ala) c.1112A>C (p.Glu371Ala) | |
11 | g.119278188A>G | CA382912350 | CBL | c.*570A>G (n.*570A>G) c.1118A>G (p.Glu373Gly) c.1112A>G (p.Glu371Gly) | |
11 | g.119278188A>T | CA382912352 | CBL | c.*570A>T (n.*570A>T) c.1118A>T (p.Glu373Val) c.1112A>T (p.Glu371Val) | dbSNP |
11 | g.119278189G>A | CA6318433 | CBL | c.*571G>A (n.*571G>A) c.1119G>A (p.Glu373=) c.1113G>A (p.Glu371=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.119278189G>C | CA382912358 | CBL | c.*571G>C (n.*571G>C) c.1119G>C (p.Glu373Asp) c.1113G>C (p.Glu371Asp) | dbSNP |
11 | g.119278189G= | CA2003905866 | CBL | c.*571G= (n.*571G=) c.1119G= (p.Glu373=) c.1113G= (p.Glu371=) | |
11 | g.119278189G>T | CA382912355 | CBL | c.*571G>T (n.*571G>T) c.1119G>T (p.Glu373Asp) c.1113G>T (p.Glu371Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.119278190A= | CA2003905873 | CBL | c.*572A= (n.*572A=) c.1120A= (p.Met374=) c.1114A= (p.Met372=) | |
11 | g.119278190A>C | CA382912361 | CBL | c.*572A>C (n.*572A>C) c.1120A>C (p.Met374Leu) c.1114A>C (p.Met372Leu) | gnomAD v4 |
11 | g.119278190A>G | CA382912362 | CBL | c.*572A>G (n.*572A>G) c.1120A>G (p.Met374Val) c.1114A>G (p.Met372Val) | dbSNP COSMIC |
11 | g.119278190A>T | CA382912366 | CBL | c.*572A>T (n.*572A>T) c.1120A>T (p.Met374Leu) c.1114A>T (p.Met372Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |