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.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.119278179_119278513del | CA645576437 | CBL | c.*561_*683del c.1109_1231del c.1103_1225del | COSMIC |
11 | g.119278214A= | CA2003905939 | CBL | c.*596A= (n.*596A=) c.1144A= (p.Lys382=) c.1138A= (p.Lys380=) | |
11 | g.119278214A>C | CA382912498 | CBL | c.*596A>C (n.*596A>C) c.1144A>C (p.Lys382Gln) c.1138A>C (p.Lys380Gln) | |
11 | g.119278214A>G | CA123486 | CBL | c.*596A>G (n.*596A>G) c.1144A>G (p.Lys382Glu) c.1138A>G (p.Lys380Glu) | ClinVar dbSNP gnomAD v4 COSMIC |
11 | g.119278214A>T | CA382912501 | CBL | c.*596A>T (n.*596A>T) c.1144A>T (p.Lys382Ter) c.1138A>T (p.Lys380Ter) | |
11 | g.119278217dup | CA2616387489 | CBL | c.*599dup (n.*599dup) c.1147dup (p.Ile383AsnfsTer4) c.1141dup (p.Ile381AsnfsTer4) | gnomAD v4 |
11 | g.119278215A>C | CA382912504 | CBL | c.*597A>C (n.*597A>C) c.1145A>C (p.Lys382Thr) c.1139A>C (p.Lys380Thr) | gnomAD v4 |
11 | g.119278215A>G | CA382912510 | CBL | c.*597A>G (n.*597A>G) c.1145A>G (p.Lys382Arg) c.1139A>G (p.Lys380Arg) | ClinVar dbSNP |
11 | g.119278215A>T | CA382912509 | CBL | c.*597A>T (n.*597A>T) c.1145A>T (p.Lys382Ile) c.1139A>T (p.Lys380Ile) | dbSNP |
11 | g.119278216A>C | CA382912514 | CBL | c.*598A>C (n.*598A>C) c.1146A>C (p.Lys382Asn) c.1140A>C (p.Lys380Asn) | |
11 | g.119278216A>G | CA477135650 | CBL | c.*598A>G (n.*598A>G) c.1146A>G (p.Lys382=) c.1140A>G (p.Lys380=) | |
11 | g.119278216A>T | CA382912515 | CBL | c.*598A>T (n.*598A>T) c.1146A>T (p.Lys382Asn) c.1140A>T (p.Lys380Asn) | dbSNP |
11 | g.119278217A= | CA2003905942 | CBL | c.*599A= (n.*599A=) c.1147A= (p.Ile383=) c.1141A= (p.Ile381=) | |
11 | g.119278217A>C | CA382912518 | CBL | c.*599A>C (n.*599A>C) c.1147A>C (p.Ile383Leu) c.1141A>C (p.Ile381Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.119278217A>G | CA382912520 | CBL | c.*599A>G (n.*599A>G) c.1147A>G (p.Ile383Val) c.1141A>G (p.Ile381Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.119278217A>T | CA382912523 | CBL | c.*599A>T (n.*599A>T) c.1147A>T (p.Ile383Leu) c.1141A>T (p.Ile381Leu) | dbSNP |
11 | g.119278218T>A | CA382912527 | CBL | c.*600T>A (n.*600T>A) c.1148T>A (p.Ile383Lys) c.1142T>A (p.Ile381Lys) | dbSNP |
11 | g.119278218T>C | CA382912529 | CBL | c.*600T>C (n.*600T>C) c.1148T>C (p.Ile383Thr) c.1142T>C (p.Ile381Thr) | ClinVar COSMIC |
11 | g.119278218T>G | CA382912533 | CBL | c.*600T>G (n.*600T>G) c.1148T>G (p.Ile383Arg) c.1142T>G (p.Ile381Arg) | dbSNP |
11 | g.119278219A>C | CA477135659 | CBL | c.*601A>C (n.*601A>C) c.1149A>C (p.Ile383=) c.1143A>C (p.Ile381=) | |
11 | g.119278219A>G | CA382912538 | CBL | c.*601A>G (n.*601A>G) c.1149A>G (p.Ile383Met) c.1143A>G (p.Ile381Met) | ClinVar dbSNP gnomAD v4 COSMIC |
11 | g.119278219A>T | CA477135660 | CBL | c.*601A>T (n.*601A>T) c.1149A>T (p.Ile383=) c.1143A>T (p.Ile381=) | dbSNP |
11 | g.119278220T>A | CA382912545 | CBL | c.*602T>A (n.*602T>A) c.1150T>A (p.Cys384Ser) c.1144T>A (p.Cys382Ser) | |
11 | g.119278220T>C | CA128665 | CBL | c.*602T>C (n.*602T>C) c.1150T>C (p.Cys384Arg) c.1144T>C (p.Cys382Arg) | ClinVar dbSNP gnomAD v4 COSMIC |
11 | g.119278220T>G | CA295987 | CBL | c.*602T>G (n.*602T>G) c.1150T>G (p.Cys384Gly) c.1144T>G (p.Cys382Gly) | ClinVar dbSNP gnomAD v4 |
11 | g.119278220T= | CA2003905944 | CBL | c.*602T= (n.*602T=) c.1150T= (p.Cys384=) c.1144T= (p.Cys382=) | |
11 | g.119278221G>A | CA229661870 | CBL | c.*603G>A (n.*603G>A) c.1151G>A (p.Cys384Tyr) c.1145G>A (p.Cys382Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.119278221G>C | CA382912551 | CBL | c.*603G>C (n.*603G>C) c.1151G>C (p.Cys384Ser) c.1145G>C (p.Cys382Ser) | dbSNP |
11 | g.119278221G= | CA2003905949 | CBL | c.*603G= (n.*603G=) c.1151G= (p.Cys384=) c.1145G= (p.Cys382=) | |
11 | g.119278221G>T | CA382912549 | CBL | c.*603G>T (n.*603G>T) c.1151G>T (p.Cys384Phe) c.1145G>T (p.Cys382Phe) | |
11 | g.119278222T>A | CA382912553 | CBL | c.*604T>A (n.*604T>A) c.1152T>A (p.Cys384Ter) c.1146T>A (p.Cys382Ter) | dbSNP |
11 | g.119278222T>C | CA477135675 | CBL | c.*604T>C (n.*604T>C) c.1152T>C (p.Cys384=) c.1146T>C (p.Cys382=) | |
11 | g.119278222T>G | CA382912554 | CBL | c.*604T>G (n.*604T>G) c.1152T>G (p.Cys384Trp) c.1146T>G (p.Cys382Trp) | dbSNP COSMIC |
11 | g.119278223G>A | CA382912558 | CBL | c.*605G>A (n.*605G>A) c.1153G>A (p.Ala385Thr) c.1147G>A (p.Ala383Thr) | ClinVar dbSNP |
11 | g.119278223G>C | CA382912560 | CBL | c.*605G>C (n.*605G>C) c.1153G>C (p.Ala385Pro) c.1147G>C (p.Ala383Pro) | dbSNP gnomAD v4 |
11 | g.119278223G>T | CA382912562 | CBL | c.*605G>T (n.*605G>T) c.1153G>T (p.Ala385Ser) c.1147G>T (p.Ala383Ser) | |
11 | g.119278224C>A | CA382912564 | CBL | c.*606C>A (n.*606C>A) c.1154C>A (p.Ala385Asp) c.1148C>A (p.Ala383Asp) | dbSNP |
11 | g.119278224C>G | CA382912566 | CBL | c.*606C>G (n.*606C>G) c.1154C>G (p.Ala385Gly) c.1148C>G (p.Ala383Gly) | dbSNP |
11 | g.119278224C>T | CA382912567 | CBL | c.*606C>T (n.*606C>T) c.1154C>T (p.Ala385Val) c.1148C>T (p.Ala383Val) | dbSNP |
11 | g.119278225T>A | CA477135684 | CBL | c.*607T>A (n.*607T>A) c.1155T>A (p.Ala385=) c.1149T>A (p.Ala383=) | dbSNP |
11 | g.119278225T>C | CA477135685 | CBL | c.*607T>C (n.*607T>C) c.1155T>C (p.Ala385=) c.1149T>C (p.Ala383=) | dbSNP gnomAD v4 |
11 | g.119278225T>G | CA477135689 | CBL | c.*607T>G (n.*607T>G) c.1155T>G (p.Ala385=) c.1149T>G (p.Ala383=) | |
11 | g.119278226G>A | CA382912571 | CBL | c.*608G>A (n.*608G>A) c.1156G>A (p.Glu386Lys) c.1150G>A (p.Glu384Lys) | ClinVar dbSNP gnomAD v4 |
11 | g.119278226G>C | CA382912573 | CBL | c.*608G>C (n.*608G>C) c.1156G>C (p.Glu386Gln) c.1150G>C (p.Glu384Gln) | |
11 | g.119278226G= | CA2003905951 | CBL | c.*608G= (n.*608G=) c.1156G= (p.Glu386=) c.1150G= (p.Glu384=) | |
11 | g.119278226G>T | CA382912575 | CBL | c.*608G>T (n.*608G>T) c.1156G>T (p.Glu386Ter) c.1150G>T (p.Glu384Ter) |