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.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) | |
11 | g.119278227A>C | CA382912585 | CBL | c.*609A>C (n.*609A>C) c.1157A>C (p.Glu386Ala) c.1151A>C (p.Glu384Ala) | |
11 | g.119278227A>G | CA382912580 | CBL | c.*609A>G (n.*609A>G) c.1157A>G (p.Glu386Gly) c.1151A>G (p.Glu384Gly) | |
11 | g.119278227A>T | CA382912579 | CBL | c.*609A>T (n.*609A>T) c.1157A>T (p.Glu386Val) c.1151A>T (p.Glu384Val) | dbSNP |
11 | g.119278230del | CA2725171835 | CBL | c.*612del (n.*612del) c.1160del (p.Asn387MetfsTer5) c.1154del (p.Asn385MetfsTer5) | dbSNP |
11 | g.119278228A= | CA2003905953 | CBL | c.*610A= (n.*610A=) c.1158A= (p.Glu386=) c.1152A= (p.Glu384=) | |
11 | g.119278228A>C | CA382912588 | CBL | c.*610A>C (n.*610A>C) c.1158A>C (p.Glu386Asp) c.1152A>C (p.Glu384Asp) | |
11 | g.119278228A>G | CA6318442 | CBL | c.*610A>G (n.*610A>G) c.1158A>G (p.Glu386=) c.1152A>G (p.Glu384=) | dbSNP ExAC gnomAD v2 |
11 | g.119278228A>T | CA382912591 | CBL | c.*610A>T (n.*610A>T) c.1158A>T (p.Glu386Asp) c.1152A>T (p.Glu384Asp) | |
11 | g.119278229A= | CA2003905955 | CBL | c.*611A= (n.*611A=) c.1159A= (p.Asn387=) c.1153A= (p.Asn385=) | |
11 | g.119278229A>C | CA382912594 | CBL | c.*611A>C (n.*611A>C) c.1159A>C (p.Asn387His) c.1153A>C (p.Asn385His) | dbSNP |
11 | g.119278229A>G | CA382912596 | CBL | c.*611A>G (n.*611A>G) c.1159A>G (p.Asn387Asp) c.1153A>G (p.Asn385Asp) | |
11 | g.119278229A>T | CA382912597 | CBL | c.*611A>T (n.*611A>T) c.1159A>T (p.Asn387Tyr) c.1153A>T (p.Asn385Tyr) | dbSNP |
11 | g.119278230A>C | CA382912600 | CBL | c.*612A>C (n.*612A>C) c.1160A>C (p.Asn387Thr) c.1154A>C (p.Asn385Thr) | |
11 | g.119278230A>G | CA382912602 | CBL | c.*612A>G (n.*612A>G) c.1160A>G (p.Asn387Ser) c.1154A>G (p.Asn385Ser) | dbSNP |
11 | g.119278230A>T | CA382912604 | CBL | c.*612A>T (n.*612A>T) c.1160A>T (p.Asn387Ile) c.1154A>T (p.Asn385Ile) | dbSNP |
11 | g.119278231T>A | CA382912607 | CBL | c.*613T>A (n.*613T>A) c.1161T>A (p.Asn387Lys) c.1155T>A (p.Asn385Lys) | dbSNP |
11 | g.119278231T>C | CA6318443 | CBL | c.*613T>C (n.*613T>C) c.1161T>C (p.Asn387=) c.1155T>C (p.Asn385=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.119278231T>G | CA382912611 | CBL | c.*613T>G (n.*613T>G) c.1161T>G (p.Asn387Lys) c.1155T>G (p.Asn385Lys) | dbSNP |
11 | g.119278231T= | CA2003905957 | CBL | c.*613T= (n.*613T=) c.1161T= (p.Asn387=) c.1155T= (p.Asn385=) | |
11 | g.119278232G>A | CA382912613 | CBL | c.*614G>A (n.*614G>A) c.1162G>A (p.Asp388Asn) c.1156G>A (p.Asp386Asn) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.119278232G>C | CA382912612 | CBL | c.*614G>C (n.*614G>C) c.1162G>C (p.Asp388His) c.1156G>C (p.Asp386His) | dbSNP gnomAD v4 |
11 | g.119278232G= | CA2003905959 | CBL | c.*614G= (n.*614G=) c.1162G= (p.Asp388=) c.1156G= (p.Asp386=) | |
11 | g.119278232G>T | CA229661880 | CBL | c.*614G>T (n.*614G>T) c.1162G>T (p.Asp388Tyr) c.1156G>T (p.Asp386Tyr) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.119278233del | CA2695202508 | CBL | c.*615del (n.*615del) c.1163del (p.Asp388ValfsTer4) c.1157del (p.Asp386ValfsTer4) | |
11 | g.119278233A>C | CA382912616 | CBL | c.*615A>C (n.*615A>C) c.1163A>C (p.Asp388Ala) c.1157A>C (p.Asp386Ala) | |
11 | g.119278233A>G | CA382912619 | CBL | c.*615A>G (n.*615A>G) c.1163A>G (p.Asp388Gly) c.1157A>G (p.Asp386Gly) | ClinVar dbSNP gnomAD v4 |
11 | g.119278233A>T | CA382912620 | CBL | c.*615A>T (n.*615A>T) c.1163A>T (p.Asp388Val) c.1157A>T (p.Asp386Val) | |
11 | g.119278234T>A | CA382912624 | CBL | c.*616T>A (n.*616T>A) c.1164T>A (p.Asp388Glu) c.1158T>A (p.Asp386Glu) | |
11 | g.119278234T>C | CA477135738 | CBL | c.*616T>C (n.*616T>C) c.1164T>C (p.Asp388=) c.1158T>C (p.Asp386=) | |
11 | g.119278234T>G | CA382912626 | CBL | c.*616T>G (n.*616T>G) c.1164T>G (p.Asp388Glu) c.1158T>G (p.Asp386Glu) | |
11 | g.119278235A= | CA2003905960 | CBL | c.*617A= (n.*617A=) c.1165A= (p.Lys389=) c.1159A= (p.Lys387=) | |
11 | g.119278235A>C | CA382912633 | CBL | c.*617A>C (n.*617A>C) c.1165A>C (p.Lys389Gln) c.1159A>C (p.Lys387Gln) | |
11 | g.119278235A>G | CA16613479 | CBL | c.*617A>G (n.*617A>G) c.1165A>G (p.Lys389Glu) c.1159A>G (p.Lys387Glu) | ClinVar dbSNP gnomAD v4 |
11 | g.119278235A>T | CA382912628 | CBL | c.*617A>T (n.*617A>T) c.1165A>T (p.Lys389Ter) c.1159A>T (p.Lys387Ter) | |
11 | g.119278236A= | CA2003905963 | CBL | c.*618A= (n.*618A=) c.1166A= (p.Lys389=) c.1160A= (p.Lys387=) | |
11 | g.119278236A>C | CA382912636 | CBL | c.*618A>C (n.*618A>C) c.1166A>C (p.Lys389Thr) c.1160A>C (p.Lys387Thr) | ClinVar dbSNP gnomAD v4 |
11 | g.119278236A>G | CA382912638 | CBL | c.*618A>G (n.*618A>G) c.1166A>G (p.Lys389Arg) c.1160A>G (p.Lys387Arg) | ClinVar dbSNP gnomAD v4 |
11 | g.119278236A>T | CA382912642 | CBL | c.*618A>T (n.*618A>T) c.1166A>T (p.Lys389Met) c.1160A>T (p.Lys387Met) | dbSNP |
11 | g.119278237G>A | CA6318444 | CBL | c.*619G>A (n.*619G>A) c.1167G>A (p.Lys389=) c.1161G>A (p.Lys387=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.119278237G>C | CA382912647 | CBL | c.*619G>C (n.*619G>C) c.1167G>C (p.Lys389Asn) c.1161G>C (p.Lys387Asn) | ClinVar |
11 | g.119278237G= | CA2003905966 | CBL | c.*619G= (n.*619G=) c.1167G= (p.Lys389=) c.1161G= (p.Lys387=) | |
11 | g.119278237G>T | CA382912654 | CBL | c.*619G>T (n.*619G>T) c.1167G>T (p.Lys389Asn) c.1161G>T (p.Lys387Asn) | ClinVar dbSNP COSMIC |
11 | g.119278237_119278242dup | CA645576440 | CBL | c.*619_*624dup (n.*619_*624dup) c.1167_1172dup (p.Val391_Lys392insAspVal) c.1161_1166dup (p.Val389_Lys390insAspVal) | COSMIC |
11 | g.119278238G>A | CA382912657 | CBL | c.*620G>A (n.*620G>A) c.1168G>A (p.Asp390Asn) c.1162G>A (p.Asp388Asn) | dbSNP |
11 | g.119278238G>C | CA382912659 | CBL | c.*620G>C (n.*620G>C) c.1168G>C (p.Asp390His) c.1162G>C (p.Asp388His) | ClinVar dbSNP |
11 | g.119278238G= | CA2003905969 | CBL | c.*620G= (n.*620G=) c.1168G= (p.Asp390=) c.1162G= (p.Asp388=) | |
11 | g.119278238G>T | CA123488 | CBL | c.*620G>T (n.*620G>T) c.1168G>T (p.Asp390Tyr) c.1162G>T (p.Asp388Tyr) | ClinVar dbSNP |
11 | g.119278239A= | CA2003905973 | CBL | c.*621A= (n.*621A=) c.1169A= (p.Asp390=) c.1163A= (p.Asp388=) | |
11 | g.119278239A>C | CA382912660 | CBL | c.*621A>C (n.*621A>C) c.1169A>C (p.Asp390Ala) c.1163A>C (p.Asp388Ala) | |
11 | g.119278239A>G | CA382912661 | CBL | c.*621A>G (n.*621A>G) c.1169A>G (p.Asp390Gly) c.1163A>G (p.Asp388Gly) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
11 | g.119278239A>T | CA6318445 | CBL | c.*621A>T (n.*621A>T) c.1169A>T (p.Asp390Val) c.1163A>T (p.Asp388Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
11 | g.119278240T>A | CA382912668 | CBL | c.*622T>A (n.*622T>A) c.1170T>A (p.Asp390Glu) c.1164T>A (p.Asp388Glu) | dbSNP |
11 | g.119278240T>C | CA477135773 | CBL | c.*622T>C (n.*622T>C) c.1170T>C (p.Asp390=) c.1164T>C (p.Asp388=) | dbSNP |
11 | g.119278240T>G | CA382912670 | CBL | c.*622T>G (n.*622T>G) c.1170T>G (p.Asp390Glu) c.1164T>G (p.Asp388Glu) | |
11 | g.119278241G>A | CA6318446 | CBL | c.*623G>A (n.*623G>A) c.1171G>A (p.Val391Ile) c.1165G>A (p.Val389Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.119278241G>C | CA382912672 | CBL | c.*623G>C (n.*623G>C) c.1171G>C (p.Val391Leu) c.1165G>C (p.Val389Leu) | dbSNP |
11 | g.119278241G= | CA2003905977 | CBL | c.*623G= (n.*623G=) c.1171G= (p.Val391=) c.1165G= (p.Val389=) | |
11 | g.119278241G>T | CA382912673 | CBL | c.*623G>T (n.*623G>T) c.1171G>T (p.Val391Leu) c.1165G>T (p.Val389Leu) | |
11 | g.119278242T>A | CA382912674 | CBL | c.*624T>A (n.*624T>A) c.1172T>A (p.Val391Glu) c.1166T>A (p.Val389Glu) | |
11 | g.119278242T>C | CA382912675 | CBL | c.*624T>C (n.*624T>C) c.1172T>C (p.Val391Ala) c.1166T>C (p.Val389Ala) | |
11 | g.119278242T>G | CA382912676 | CBL | c.*624T>G (n.*624T>G) c.1172T>G (p.Val391Gly) c.1166T>G (p.Val389Gly) | |
11 | g.119278243A= | CA2003905980 | CBL | c.*625A= (n.*625A=) c.1173A= (p.Val391=) c.1167A= (p.Val389=) | |
11 | g.119278243A>C | CA477135796 | CBL | c.*625A>C (n.*625A>C) c.1173A>C (p.Val391=) c.1167A>C (p.Val389=) | |
11 | g.119278243A>G | CA477135795 | CBL | c.*625A>G (n.*625A>G) c.1173A>G (p.Val391=) c.1167A>G (p.Val389=) | ClinVar dbSNP |
11 | g.119278243A>T | CA477135794 | CBL | c.*625A>T (n.*625A>T) c.1173A>T (p.Val391=) c.1167A>T (p.Val389=) | dbSNP |
11 | g.119278244A>C | CA382912678 | CBL | c.*626A>C (n.*626A>C) c.1174A>C (p.Lys392Gln) c.1168A>C (p.Lys390Gln) | |
11 | g.119278244A>G | CA382912679 | CBL | c.*626A>G (n.*626A>G) c.1174A>G (p.Lys392Glu) c.1168A>G (p.Lys390Glu) | |
11 | g.119278244A>T | CA382912677 | CBL | c.*626A>T (n.*626A>T) c.1174A>T (p.Lys392Ter) c.1168A>T (p.Lys390Ter) | dbSNP |
11 | g.119278245A>C | CA382912681 | CBL | c.*627A>C (n.*627A>C) c.1175A>C (p.Lys392Thr) c.1169A>C (p.Lys390Thr) | |
11 | g.119278245A>G | CA382912680 | CBL | c.*627A>G (n.*627A>G) c.1175A>G (p.Lys392Arg) c.1169A>G (p.Lys390Arg) | |
11 | g.119278245A>T | CA382912682 | CBL | c.*627A>T (n.*627A>T) c.1175A>T (p.Lys392Met) c.1169A>T (p.Lys390Met) | ClinVar dbSNP |
11 | g.119278249_119278477del | CA645576441 | CBL | c.*631_*680-33del c.1179_1228-33del c.1173_1222-33del | COSMIC |
11 | g.119278246G>A | CA477135806 | CBL | c.*628G>A (n.*628G>A) c.1176G>A (p.Lys392=) c.1170G>A (p.Lys390=) | dbSNP |
11 | g.119278246G>C | CA382912683 | CBL | c.*628G>C (n.*628G>C) c.1176G>C (p.Lys392Asn) c.1170G>C (p.Lys390Asn) | dbSNP |
11 | g.119278246G>T | CA382912684 | CBL | c.*628G>T (n.*628G>T) c.1176G>T (p.Lys392Asn) c.1170G>T (p.Lys390Asn) | gnomAD v4 |
11 | g.119278247A>C | CA382912685 | CBL | c.*629A>C (n.*629A>C) c.1177A>C (p.Ile393Leu) c.1171A>C (p.Ile391Leu) | dbSNP |
11 | g.119278247A>G | CA382912686 | CBL | c.*629A>G (n.*629A>G) c.1177A>G (p.Ile393Val) c.1171A>G (p.Ile391Val) | |
11 | g.119278247A>T | CA382912687 | CBL | c.*629A>T (n.*629A>T) c.1177A>T (p.Ile393Phe) c.1171A>T (p.Ile391Phe) | dbSNP |
11 | g.119278248T>A | CA382912688 | CBL | c.*630T>A (n.*630T>A) c.1178T>A (p.Ile393Asn) c.1172T>A (p.Ile391Asn) | ClinVar dbSNP COSMIC |
11 | g.119278248T>C | CA6318447 | CBL | c.*630T>C (n.*630T>C) c.1178T>C (p.Ile393Thr) c.1172T>C (p.Ile391Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.119278248T>G | CA382912689 | CBL | c.*630T>G (n.*630T>G) c.1178T>G (p.Ile393Ser) c.1172T>G (p.Ile391Ser) | dbSNP gnomAD v4 |
11 | g.119278248T= | CA2003905983 | CBL | c.*630T= (n.*630T=) c.1178T= (p.Ile393=) c.1172T= (p.Ile391=) | |
11 | g.119278248_119278249delinsGA | CA645576442 | CBL | c.*630_*631delinsGA (n.*630_*631delinsGA) c.1178_1179delinsGA (p.Ile393Arg) c.1172_1173delinsGA (p.Ile391Arg) | COSMIC |
11 | g.119278248_119278256del | CA2575031878 | CBL | c.*630_*638del (n.*630_*638del) c.1178_1186del (p.Ile393_Cys396delinsSer) c.1172_1180del (p.Ile391_Cys394delinsSer) | |
11 | g.119278249T>A | CA477135819 | CBL | c.*631T>A (n.*631T>A) c.1179T>A (p.Ile393=) c.1173T>A (p.Ile391=) | dbSNP |
11 | g.119278249T>C | CA477135827 | CBL | c.*631T>C (n.*631T>C) c.1179T>C (p.Ile393=) c.1173T>C (p.Ile391=) | |
11 | g.119278249T>G | CA382912690 | CBL | c.*631T>G (n.*631T>G) c.1179T>G (p.Ile393Met) c.1173T>G (p.Ile391Met) | |
11 | g.119278250G>A | CA382912691 | CBL | c.*632G>A (n.*632G>A) c.1180G>A (p.Glu394Lys) c.1174G>A (p.Glu392Lys) | dbSNP |
11 | g.119278250G>C | CA382912692 | CBL | c.*632G>C (n.*632G>C) c.1180G>C (p.Glu394Gln) c.1174G>C (p.Glu392Gln) | dbSNP |
11 | g.119278250G>T | CA382912693 | CBL | c.*632G>T (n.*632G>T) c.1180G>T (p.Glu394Ter) c.1174G>T (p.Glu392Ter) | |
11 | g.119278251A>C | CA382912696 | CBL | c.*633A>C (n.*633A>C) c.1181A>C (p.Glu394Ala) c.1175A>C (p.Glu392Ala) | dbSNP |
11 | g.119278251A>G | CA382912694 | CBL | c.*633A>G (n.*633A>G) c.1181A>G (p.Glu394Gly) c.1175A>G (p.Glu392Gly) | dbSNP |
11 | g.119278251A>T | CA382912695 | CBL | c.*633A>T (n.*633A>T) c.1181A>T (p.Glu394Val) c.1175A>T (p.Glu392Val) | dbSNP |
11 | g.119278252G>A | CA6318448 | CBL | c.*634G>A (n.*634G>A) c.1182G>A (p.Glu394=) c.1176G>A (p.Glu392=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.119278252G>C | CA382912697 | CBL | c.*634G>C (n.*634G>C) c.1182G>C (p.Glu394Asp) c.1176G>C (p.Glu392Asp) | dbSNP |
11 | g.119278252G= | CA2003905986 | CBL | c.*634G= (n.*634G=) c.1182G= (p.Glu394=) c.1176G= (p.Glu392=) | |
11 | g.119278252G>T | CA382912698 | CBL | c.*634G>T (n.*634G>T) c.1182G>T (p.Glu394Asp) c.1176G>T (p.Glu392Asp) | |
11 | g.119278253C>A | CA382912700 | CBL | c.*635C>A (n.*635C>A) c.1183C>A (p.Pro395Thr) c.1177C>A (p.Pro393Thr) | dbSNP |
11 | g.119278253C>G | CA382912702 | CBL | c.*635C>G (n.*635C>G) c.1183C>G (p.Pro395Ala) c.1177C>G (p.Pro393Ala) | dbSNP COSMIC |
11 | g.119278253C>T | CA382912704 | CBL | c.*635C>T (n.*635C>T) c.1183C>T (p.Pro395Ser) c.1177C>T (p.Pro393Ser) | ClinVar dbSNP gnomAD v4 |
11 | g.119278254C>A | CA382912706 | CBL | c.*636C>A (n.*636C>A) c.1184C>A (p.Pro395His) c.1178C>A (p.Pro393His) | dbSNP |
11 | g.119278254C>G | CA382912708 | CBL | c.*636C>G (n.*636C>G) c.1184C>G (p.Pro395Arg) c.1178C>G (p.Pro393Arg) | dbSNP |
11 | g.119278254C>T | CA382912712 | CBL | c.*636C>T (n.*636C>T) c.1184C>T (p.Pro395Leu) c.1178C>T (p.Pro393Leu) | dbSNP COSMIC |
11 | g.119278255C>A | CA477135867 | CBL | c.*637C>A (n.*637C>A) c.1185C>A (p.Pro395=) c.1179C>A (p.Pro393=) | dbSNP |
11 | g.119278255C>G | CA477135872 | CBL | c.*637C>G (n.*637C>G) c.1185C>G (p.Pro395=) c.1179C>G (p.Pro393=) | dbSNP |
11 | g.119278255C>T | CA477135870 | CBL | c.*637C>T (n.*637C>T) c.1185C>T (p.Pro395=) c.1179C>T (p.Pro393=) | dbSNP |
11 | g.119278256T>A | CA382912715 | CBL | c.*638T>A (n.*638T>A) c.1186T>A (p.Cys396Ser) c.1180T>A (p.Cys394Ser) | dbSNP gnomAD v4 |
11 | g.119278256T>C | CA128668 | CBL | c.*638T>C (n.*638T>C) c.1186T>C (p.Cys396Arg) c.1180T>C (p.Cys394Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
11 | g.119278256T>G | CA382912721 | CBL | c.*638T>G (n.*638T>G) c.1186T>G (p.Cys396Gly) c.1180T>G (p.Cys394Gly) | dbSNP gnomAD v4 COSMIC |
11 | g.119278256T= | CA2003905990 | CBL | c.*638T= (n.*638T=) c.1186T= (p.Cys396=) c.1180T= (p.Cys394=) | |
11 | g.119278257G>A | CA382912724 | CBL | c.*639G>A (n.*639G>A) c.1187G>A (p.Cys396Tyr) c.1181G>A (p.Cys394Tyr) | ClinVar dbSNP gnomAD v4 COSMIC |
11 | g.119278257G>C | CA382912725 | CBL | c.*639G>C (n.*639G>C) c.1187G>C (p.Cys396Ser) c.1181G>C (p.Cys394Ser) | dbSNP COSMIC |
11 | g.119278257G= | CA2003905994 | CBL | c.*639G= (n.*639G=) c.1187G= (p.Cys396=) c.1181G= (p.Cys394=) | |
11 | g.119278257G>T | CA382912723 | CBL | c.*639G>T (n.*639G>T) c.1187G>T (p.Cys396Phe) c.1181G>T (p.Cys394Phe) | dbSNP |
11 | g.119278258T>A | CA382912727 | CBL | c.*640T>A (n.*640T>A) c.1188T>A (p.Cys396Ter) c.1182T>A (p.Cys394Ter) | |
11 | g.119278258T>C | CA477135891 | CBL | c.*640T>C (n.*640T>C) c.1188T>C (p.Cys396=) c.1182T>C (p.Cys394=) | COSMIC |
11 | g.119278258T>G | CA382912729 | CBL | c.*640T>G (n.*640T>G) c.1188T>G (p.Cys396Trp) c.1182T>G (p.Cys394Trp) | |
11 | g.119278258T= | CA2003905997 | CBL | c.*640T= (n.*640T=) c.1188T= (p.Cys396=) c.1182T= (p.Cys394=) | |
11 | g.119278259G>A | CA382912730 | CBL | c.*641G>A (n.*641G>A) c.1189G>A (p.Gly397Arg) c.1183G>A (p.Gly395Arg) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.119278259G>C | CA382912736 | CBL | c.*641G>C (n.*641G>C) c.1189G>C (p.Gly397Arg) c.1183G>C (p.Gly395Arg) | dbSNP |
11 | g.119278259G= | CA2003906000 | CBL | c.*641G= (n.*641G=) c.1189G= (p.Gly397=) c.1183G= (p.Gly395=) | |
11 | g.119278259G>T | CA382912738 | CBL | c.*641G>T (n.*641G>T) c.1189G>T (p.Gly397Ter) c.1183G>T (p.Gly395Ter) | dbSNP |
11 | g.119278260dup | CA2003905999 | CBL | c.*642dup (n.*642dup) c.1190dup (p.His398ThrfsTer25) c.1184dup (p.His396ThrfsTer25) | dbSNP |
11 | g.119278260_119278570del | CA645576443 | CBL | c.*642_*740del c.1190_1288del c.1184_1282del | COSMIC |
11 | g.119278260G>A | CA6318449 | CBL | c.*642G>A (n.*642G>A) c.1190G>A (p.Gly397Glu) c.1184G>A (p.Gly395Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.119278260G>C | CA382912746 | CBL | c.*642G>C (n.*642G>C) c.1190G>C (p.Gly397Ala) c.1184G>C (p.Gly395Ala) | dbSNP |
11 | g.119278260G= | CA2003906007 | CBL | c.*642G= (n.*642G=) c.1190G= (p.Gly397=) c.1184G= (p.Gly395=) | |
11 | g.119278260G>T | CA382912747 | CBL | c.*642G>T (n.*642G>T) c.1190G>T (p.Gly397Val) c.1184G>T (p.Gly395Val) | dbSNP gnomAD v4 COSMIC |
11 | g.119278261A= | CA2003906011 | CBL | c.*643A= (n.*643A=) c.1191A= (p.Gly397=) c.1185A= (p.Gly395=) | |
11 | g.119278261A>C | CA477135930 | CBL | c.*643A>C (n.*643A>C) c.1191A>C (p.Gly397=) c.1185A>C (p.Gly395=) | dbSNP |
11 | g.119278261A>G | CA6318450 | CBL | c.*643A>G (n.*643A>G) c.1191A>G (p.Gly397=) c.1185A>G (p.Gly395=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.119278261A>T | CA477135936 | CBL | c.*643A>T (n.*643A>T) c.1191A>T (p.Gly397=) c.1185A>T (p.Gly395=) | dbSNP |
11 | g.119278262C>A | CA382912750 | CBL | c.*644C>A (n.*644C>A) c.1192C>A (p.His398Asn) c.1186C>A (p.His396Asn) | dbSNP gnomAD v4 |
11 | g.119278262C= | CA2003906012 | CBL | c.*644C= (n.*644C=) c.1192C= (p.His398=) c.1186C= (p.His396=) | |
11 | g.119278262C>G | CA382912751 | CBL | c.*644C>G (n.*644C>G) c.1192C>G (p.His398Asp) c.1186C>G (p.His396Asp) | dbSNP |
11 | g.119278262C>T | CA229661898 | CBL | c.*644C>T (n.*644C>T) c.1192C>T (p.His398Tyr) c.1186C>T (p.His396Tyr) | ClinVar dbSNP gnomAD v4 COSMIC |
11 | g.119278263A= | CA2003906019 | CBL | c.*645A= (n.*645A=) c.1193A= (p.His398=) c.1187A= (p.His396=) | |
11 | g.119278263A>C | CA382912753 | CBL | c.*645A>C (n.*645A>C) c.1193A>C (p.His398Pro) c.1187A>C (p.His396Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.119278263A>G | CA382912755 | CBL | c.*645A>G (n.*645A>G) c.1193A>G (p.His398Arg) c.1187A>G (p.His396Arg) | ClinVar dbSNP gnomAD v4 COSMIC |
11 | g.119278263A>T | CA382912752 | CBL | c.*645A>T (n.*645A>T) c.1193A>T (p.His398Leu) c.1187A>T (p.His396Leu) | dbSNP |
11 | g.119278264C>A | CA382912756 | CBL | c.*646C>A (n.*646C>A) c.1194C>A (p.His398Gln) c.1188C>A (p.His396Gln) | dbSNP COSMIC |
11 | g.119278264C>G | CA382912757 | CBL | c.*646C>G (n.*646C>G) c.1194C>G (p.His398Gln) c.1188C>G (p.His396Gln) | dbSNP |
11 | g.119278264C>T | CA477135965 | CBL | c.*646C>T (n.*646C>T) c.1194C>T (p.His398=) c.1188C>T (p.His396=) | dbSNP |
11 | g.119278265C>A | CA382912758 | CBL | c.*647C>A (n.*647C>A) c.1195C>A (p.Leu399Ile) c.1189C>A (p.Leu397Ile) | dbSNP gnomAD v4 |
11 | g.119278265C>G | CA382912760 | CBL | c.*647C>G (n.*647C>G) c.1195C>G (p.Leu399Val) c.1189C>G (p.Leu397Val) | dbSNP gnomAD v4 COSMIC |
11 | g.119278265C>T | CA382912761 | CBL | c.*647C>T (n.*647C>T) c.1195C>T (p.Leu399Phe) c.1189C>T (p.Leu397Phe) | ClinVar dbSNP gnomAD v4 |
11 | g.119278266T>A | CA382912764 | CBL | c.*648T>A (n.*648T>A) c.1196T>A (p.Leu399His) c.1190T>A (p.Leu397His) | ClinVar gnomAD v4 COSMIC |
11 | g.119278266T>C | CA382912763 | CBL | c.*648T>C (n.*648T>C) c.1196T>C (p.Leu399Pro) c.1190T>C (p.Leu397Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
11 | g.119278266T>G | CA382912762 | CBL | c.*648T>G (n.*648T>G) c.1196T>G (p.Leu399Arg) c.1190T>G (p.Leu397Arg) | |
11 | g.119278266T= | CA2003906023 | CBL | c.*648T= (n.*648T=) c.1196T= (p.Leu399=) c.1190T= (p.Leu397=) | |
11 | g.119278267C>A | CA477135993 | CBL | c.*649C>A (n.*649C>A) c.1197C>A (p.Leu399=) c.1191C>A (p.Leu397=) | ClinVar gnomAD v4 |
11 | g.119278267C>G | CA477135996 | CBL | c.*649C>G (n.*649C>G) c.1197C>G (p.Leu399=) c.1191C>G (p.Leu397=) | dbSNP |
11 | g.119278267C>T | CA477136001 | CBL | c.*649C>T (n.*649C>T) c.1197C>T (p.Leu399=) c.1191C>T (p.Leu397=) | dbSNP gnomAD v4 |
11 | g.119278268A= | CA2003906027 | CBL | c.*650A= (n.*650A=) c.1198A= (p.Met400=) c.1192A= (p.Met398=) | |
11 | g.119278268A>C | CA382912765 | CBL | c.*650A>C (n.*650A>C) c.1198A>C (p.Met400Leu) c.1192A>C (p.Met398Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.119278268A>G | CA382912767 | CBL | c.*650A>G (n.*650A>G) c.1198A>G (p.Met400Val) c.1192A>G (p.Met398Val) | ClinVar dbSNP gnomAD v4 COSMIC |
11 | g.119278268A>T | CA229661901 | CBL | c.*650A>T (n.*650A>T) c.1198A>T (p.Met400Leu) c.1192A>T (p.Met398Leu) | ClinVar dbSNP gnomAD v4 |
11 | g.119278269T>A | CA382912771 | CBL | c.*651T>A (n.*651T>A) c.1199T>A (p.Met400Lys) c.1193T>A (p.Met398Lys) | dbSNP gnomAD v4 |
11 | g.119278269T>C | CA382912773 | CBL | c.*651T>C (n.*651T>C) c.1199T>C (p.Met400Thr) c.1193T>C (p.Met398Thr) | ClinVar dbSNP gnomAD v4 |
11 | g.119278269T>G | CA282021 | CBL | c.*651T>G (n.*651T>G) c.1199T>G (p.Met400Arg) c.1193T>G (p.Met398Arg) | ClinVar dbSNP gnomAD v4 COSMIC |
11 | g.119278269T= | CA2003906033 | CBL | c.*651T= (n.*651T=) c.1199T= (p.Met400=) c.1193T= (p.Met398=) | |
11 | g.119278270G>A | CA382912781 | CBL | c.*652G>A (n.*652G>A) c.1200G>A (p.Met400Ile) c.1194G>A (p.Met398Ile) | dbSNP gnomAD v4 |
11 | g.119278270G>C | CA382912779 | CBL | c.*652G>C (n.*652G>C) c.1200G>C (p.Met400Ile) c.1194G>C (p.Met398Ile) | dbSNP |
11 | g.119278270G>T | CA382912777 | CBL | c.*652G>T (n.*652G>T) c.1200G>T (p.Met400Ile) c.1194G>T (p.Met398Ile) | |
11 | g.119278271T>A | CA382912786 | CBL | c.*653T>A (n.*653T>A) c.1201T>A (p.Cys401Ser) c.1195T>A (p.Cys399Ser) | dbSNP COSMIC |
11 | g.119278271T>C | CA282024 | CBL | c.*653T>C (n.*653T>C) c.1201T>C (p.Cys401Arg) c.1195T>C (p.Cys399Arg) | ClinVar dbSNP |
11 | g.119278271T>G | CA382912788 | CBL | c.*653T>G (n.*653T>G) c.1201T>G (p.Cys401Gly) c.1195T>G (p.Cys399Gly) | dbSNP COSMIC |
11 | g.119278271T= | CA2003906036 | CBL | c.*653T= (n.*653T=) c.1201T= (p.Cys401=) c.1195T= (p.Cys399=) | |
11 | g.119278272G>A | CA382912791 | CBL | c.*654G>A (n.*654G>A) c.1202G>A (p.Cys401Tyr) c.1196G>A (p.Cys399Tyr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
11 | g.119278272G>C | CA382912794 | CBL | c.*654G>C (n.*654G>C) c.1202G>C (p.Cys401Ser) c.1196G>C (p.Cys399Ser) | dbSNP COSMIC |
11 | g.119278272G= | CA2003906046 | CBL | c.*654G= (n.*654G=) c.1202G= (p.Cys401=) c.1196G= (p.Cys399=) | |
11 | g.119278272G>T | CA382912797 | CBL | c.*654G>T (n.*654G>T) c.1202G>T (p.Cys401Phe) c.1196G>T (p.Cys399Phe) | ClinVar dbSNP gnomAD v4 COSMIC |
11 | g.119278273del | CA645576444 | CBL | c.*655del (n.*655del) c.1203del (p.Cys401Ter) c.1197del (p.Cys399Ter) | COSMIC |
11 | g.119278273C>A | CA382912804 | CBL | c.*655C>A (n.*655C>A) c.1203C>A (p.Cys401Ter) c.1197C>A (p.Cys399Ter) | |
11 | g.119278273C>G | CA382912815 | CBL | c.*655C>G (n.*655C>G) c.1203C>G (p.Cys401Trp) c.1197C>G (p.Cys399Trp) | |
11 | g.119278273C>T | CA477136049 | CBL | c.*655C>T (n.*655C>T) c.1203C>T (p.Cys401=) c.1197C>T (p.Cys399=) | |
11 | g.119278274del | CA477136052 | CBL | c.*656del (n.*656del) c.1204del (p.Thr402HisfsTer30) c.1198del (p.Thr400HisfsTer30) | COSMIC |
11 | g.119278274A>C | CA382912816 | CBL | c.*656A>C (n.*656A>C) c.1204A>C (p.Thr402Pro) c.1198A>C (p.Thr400Pro) | dbSNP |
11 | g.119278274A>G | CA382912818 | CBL | c.*656A>G (n.*656A>G) c.1204A>G (p.Thr402Ala) c.1198A>G (p.Thr400Ala) | |
11 | g.119278274A>T | CA382912820 | CBL | c.*656A>T (n.*656A>T) c.1204A>T (p.Thr402Ser) c.1198A>T (p.Thr400Ser) | dbSNP |
11 | g.119278282_119278293dup | CA2573053445 | CBL | c.*664_*675dup (n.*664_*675dup) c.1212_1223dup (p.Ser407_Trp408insCysLeuThrSer) c.1206_1217dup (p.Ser405_Trp406insCysLeuThrSer) | ClinVar dbSNP gnomAD v4 |
11 | g.119278282_119278293del | CA2793839083 | CBL | c.*664_*675del (n.*664_*675del) c.1212_1223del (p.Cys404_Ser407del) c.1206_1217del (p.Cys402_Ser405del) | |
11 | g.119278275C>A | CA382912824 | CBL | c.*657C>A (n.*657C>A) c.1205C>A (p.Thr402Lys) c.1199C>A (p.Thr400Lys) | |
11 | g.119278275C>G | CA382912825 | CBL | c.*657C>G (n.*657C>G) c.1205C>G (p.Thr402Arg) c.1199C>G (p.Thr400Arg) | dbSNP |
11 | g.119278275C>T | CA382912826 | CBL | c.*657C>T (n.*657C>T) c.1205C>T (p.Thr402Ile) c.1199C>T (p.Thr400Ile) | dbSNP gnomAD v4 |
11 | g.119278276A= | CA2003906053 | CBL | c.*658A= (n.*658A=) c.1206A= (p.Thr402=) c.1200A= (p.Thr400=) | |
11 | g.119278276A>C | CA477136064 | CBL | c.*658A>C (n.*658A>C) c.1206A>C (p.Thr402=) c.1200A>C (p.Thr400=) | dbSNP |
11 | g.119278276A>G | CA6318451 | CBL | c.*658A>G (n.*658A>G) c.1206A>G (p.Thr402=) c.1200A>G (p.Thr400=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.119278276A>T | CA477136072 | CBL | c.*658A>T (n.*658A>T) c.1206A>T (p.Thr402=) c.1200A>T (p.Thr400=) | dbSNP gnomAD v4 |
11 | g.119278276_119278277insGGG | CA645576446 | CBL | c.*658_*659insGGG (n.*658_*659insGGG) c.1206_1207insGGG (p.Thr402_Ser403insGly) c.1200_1201insGGG (p.Thr400_Ser401insGly) | COSMIC |
11 | g.119278277T>A | CA382912839 | CBL | c.*659T>A (n.*659T>A) c.1207T>A (p.Ser403Thr) c.1201T>A (p.Ser401Thr) | dbSNP |
11 | g.119278277T>C | CA382912829 | CBL | c.*659T>C (n.*659T>C) c.1207T>C (p.Ser403Pro) c.1201T>C (p.Ser401Pro) | dbSNP |
11 | g.119278277T>G | CA382912836 | CBL | c.*659T>G (n.*659T>G) c.1207T>G (p.Ser403Ala) c.1201T>G (p.Ser401Ala) | |
11 | g.119278277_119278313delinsCTTT | CA645576445 | CBL | c.*659_*679+16delinsCTTT c.1207_1227+16delinsCTTT c.1201_1221+16delinsCTTT | COSMIC |
11 | g.119278278C>A | CA382912841 | CBL | c.*660C>A (n.*660C>A) c.1208C>A (p.Ser403Tyr) c.1202C>A (p.Ser401Tyr) | dbSNP |
11 | g.119278278C>G | CA382912842 | CBL | c.*660C>G (n.*660C>G) c.1208C>G (p.Ser403Cys) c.1202C>G (p.Ser401Cys) | gnomAD v4 COSMIC |
11 | g.119278278C>T | CA382912843 | CBL | c.*660C>T (n.*660C>T) c.1208C>T (p.Ser403Phe) c.1202C>T (p.Ser401Phe) | dbSNP COSMIC |
11 | g.119278279C>A | CA477136092 | CBL | c.*661C>A (n.*661C>A) c.1209C>A (p.Ser403=) c.1203C>A (p.Ser401=) | dbSNP |
11 | g.119278279C= | CA2003906057 | CBL | c.*661C= (n.*661C=) c.1209C= (p.Ser403=) c.1203C= (p.Ser401=) | |
11 | g.119278279C>G | CA477136090 | CBL | c.*661C>G (n.*661C>G) c.1209C>G (p.Ser403=) c.1203C>G (p.Ser401=) | dbSNP |
11 | g.119278279C>T | CA229661908 | CBL | c.*661C>T (n.*661C>T) c.1209C>T (p.Ser403=) c.1203C>T (p.Ser401=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.119278280T>A | CA382912846 | CBL | c.*662T>A (n.*662T>A) c.1210T>A (p.Cys404Ser) c.1204T>A (p.Cys402Ser) | ClinVar dbSNP COSMIC |
11 | g.119278280T>C | CA382912847 | CBL | c.*662T>C (n.*662T>C) c.1210T>C (p.Cys404Arg) c.1204T>C (p.Cys402Arg) | ClinVar dbSNP COSMIC |
11 | g.119278280T>G | CA382912852 | CBL | c.*662T>G (n.*662T>G) c.1210T>G (p.Cys404Gly) c.1204T>G (p.Cys402Gly) | dbSNP COSMIC |
11 | g.119278280T= | CA2003906061 | CBL | c.*662T= (n.*662T=) c.1210T= (p.Cys404=) c.1204T= (p.Cys402=) | |
11 | g.119278280_119278303delinsAT | CA2580610931 | CBL | c.*662_*679+6delinsAT c.1210_1227+6delinsAT c.1204_1221+6delinsAT | |
11 | g.119278281G>A | CA6318452 | CBL | c.*663G>A (n.*663G>A) c.1211G>A (p.Cys404Tyr) c.1205G>A (p.Cys402Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.119278281G>C | CA382912855 | CBL | c.*663G>C (n.*663G>C) c.1211G>C (p.Cys404Ser) c.1205G>C (p.Cys402Ser) | dbSNP gnomAD v4 |
11 | g.119278281G= | CA2003906066 | CBL | c.*663G= (n.*663G=) c.1211G= (p.Cys404=) c.1205G= (p.Cys402=) | |
11 | g.119278281G>T | CA382912857 | CBL | c.*663G>T (n.*663G>T) c.1211G>T (p.Cys404Phe) c.1205G>T (p.Cys402Phe) | dbSNP gnomAD v4 |
11 | g.119278282T>A | CA382912861 | CBL | c.*664T>A (n.*664T>A) c.1212T>A (p.Cys404Ter) c.1206T>A (p.Cys402Ter) | dbSNP gnomAD v4 |
11 | g.119278282T>C | CA477136104 | CBL | c.*664T>C (n.*664T>C) c.1212T>C (p.Cys404=) c.1206T>C (p.Cys402=) | dbSNP |
11 | g.119278282T>G | CA382912863 | CBL | c.*664T>G (n.*664T>G) c.1212T>G (p.Cys404Trp) c.1206T>G (p.Cys402Trp) | dbSNP COSMIC |
11 | g.119278283C>A | CA382912868 | CBL | c.*665C>A (n.*665C>A) c.1213C>A (p.Leu405Ile) c.1207C>A (p.Leu403Ile) | |
11 | g.119278283C>G | CA382912870 | CBL | c.*665C>G (n.*665C>G) c.1213C>G (p.Leu405Val) c.1207C>G (p.Leu403Val) | |
11 | g.119278283C>T | CA382912866 | CBL | c.*665C>T (n.*665C>T) c.1213C>T (p.Leu405Phe) c.1207C>T (p.Leu403Phe) | |
11 | g.119278284T>A | CA382912876 | CBL | c.*666T>A (n.*666T>A) c.1214T>A (p.Leu405His) c.1208T>A (p.Leu403His) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.119278284T>C | CA382912878 | CBL | c.*666T>C (n.*666T>C) c.1214T>C (p.Leu405Pro) c.1208T>C (p.Leu403Pro) | COSMIC |
11 | g.119278284T>G | CA382912880 | CBL | c.*666T>G (n.*666T>G) c.1214T>G (p.Leu405Arg) c.1208T>G (p.Leu403Arg) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.119278284T= | CA2003906069 | CBL | c.*666T= (n.*666T=) c.1214T= (p.Leu405=) c.1208T= (p.Leu403=) | |
11 | g.119278285T>A | CA477136127 | CBL | c.*667T>A (n.*667T>A) c.1215T>A (p.Leu405=) c.1209T>A (p.Leu403=) | |
11 | g.119278285T>C | CA477136129 | CBL | c.*667T>C (n.*667T>C) c.1215T>C (p.Leu405=) c.1209T>C (p.Leu403=) | |
11 | g.119278285T>G | CA477136132 | CBL | c.*667T>G (n.*667T>G) c.1215T>G (p.Leu405=) c.1209T>G (p.Leu403=) | |
11 | g.119278287_119278308del | CA2695215606 | CBL | c.*669_*679+11del c.1217_1227+11del c.1211_1221+11del | |
11 | g.119278286A= | CA2003906071 | CBL | c.*668A= (n.*668A=) c.1216A= (p.Thr406=) c.1210A= (p.Thr404=) | |
11 | g.119278286A>C | CA382912885 | CBL | c.*668A>C (n.*668A>C) c.1216A>C (p.Thr406Pro) c.1210A>C (p.Thr404Pro) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.119278286A>G | CA382912886 | CBL | c.*668A>G (n.*668A>G) c.1216A>G (p.Thr406Ala) c.1210A>G (p.Thr404Ala) | dbSNP |
11 | g.119278286A>T | CA382912888 | CBL | c.*668A>T (n.*668A>T) c.1216A>T (p.Thr406Ser) c.1210A>T (p.Thr404Ser) | dbSNP |
11 | g.119278287C>A | CA382912889 | CBL | c.*669C>A (n.*669C>A) c.1217C>A (p.Thr406Lys) c.1211C>A (p.Thr404Lys) | dbSNP |
11 | g.119278287C= | CA2003906073 | CBL | c.*669C= (n.*669C=) c.1217C= (p.Thr406=) c.1211C= (p.Thr404=) | |
11 | g.119278287C>G | CA382912891 | CBL | c.*669C>G (n.*669C>G) c.1217C>G (p.Thr406Arg) c.1211C>G (p.Thr404Arg) | dbSNP |
11 | g.119278287C>T | CA6318453 | CBL | c.*669C>T (n.*669C>T) c.1217C>T (p.Thr406Ile) c.1211C>T (p.Thr404Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.119278288A= | CA2003906078 | CBL | c.*670A= (n.*670A=) c.1218A= (p.Thr406=) c.1212A= (p.Thr404=) | |
11 | g.119278288A>C | CA477136150 | CBL | c.*670A>C (n.*670A>C) c.1218A>C (p.Thr406=) c.1212A>C (p.Thr404=) | ClinVar dbSNP |
11 | g.119278288A>G | CA6318454 | CBL | c.*670A>G (n.*670A>G) c.1218A>G (p.Thr406=) c.1212A>G (p.Thr404=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.119278288A>T | CA477136154 | CBL | c.*670A>T (n.*670A>T) c.1218A>T (p.Thr406=) c.1212A>T (p.Thr404=) | dbSNP |
11 | g.119278289T>A | CA382912894 | CBL | c.*671T>A (n.*671T>A) c.1219T>A (p.Ser407Thr) c.1213T>A (p.Ser405Thr) | dbSNP |
11 | g.119278289T>C | CA382912895 | CBL | c.*671T>C (n.*671T>C) c.1219T>C (p.Ser407Pro) c.1213T>C (p.Ser405Pro) | ClinVar dbSNP |
11 | g.119278289T>G | CA382912896 | CBL | c.*671T>G (n.*671T>G) c.1219T>G (p.Ser407Ala) c.1213T>G (p.Ser405Ala) | |
11 | g.119278290C>A | CA382912903 | CBL | c.*672C>A (n.*672C>A) c.1220C>A (p.Ser407Tyr) c.1214C>A (p.Ser405Tyr) | ClinVar dbSNP |
11 | g.119278290C>G | CA382912900 | CBL | c.*672C>G (n.*672C>G) c.1220C>G (p.Ser407Cys) c.1214C>G (p.Ser405Cys) | dbSNP COSMIC |
11 | g.119278290C>T | CA382912897 | CBL | c.*672C>T (n.*672C>T) c.1220C>T (p.Ser407Phe) c.1214C>T (p.Ser405Phe) | ClinVar dbSNP gnomAD v4 COSMIC |
11 | g.119278291C>A | CA477136169 | CBL | c.*673C>A (n.*673C>A) c.1221C>A (p.Ser407=) c.1215C>A (p.Ser405=) | dbSNP |
11 | g.119278291C= | CA2003906082 | CBL | c.*673C= (n.*673C=) c.1221C= (p.Ser407=) c.1215C= (p.Ser405=) | |
11 | g.119278291C>G | CA477136172 | CBL | c.*673C>G (n.*673C>G) c.1221C>G (p.Ser407=) c.1215C>G (p.Ser405=) | dbSNP |
11 | g.119278291C>T | CA6318455 | CBL | c.*673C>T (n.*673C>T) c.1221C>T (p.Ser407=) c.1215C>T (p.Ser405=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.119278292T>A | CA6318457 | CBL | c.*674T>A (n.*674T>A) c.1222T>A (p.Trp408Arg) c.1216T>A (p.Trp406Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
11 | g.119278292T>C | CA382912908 | CBL | c.*674T>C (n.*674T>C) c.1222T>C (p.Trp408Arg) c.1216T>C (p.Trp406Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.119278292T>G | CA382912910 | CBL | c.*674T>G (n.*674T>G) c.1222T>G (p.Trp408Gly) c.1216T>G (p.Trp406Gly) | dbSNP COSMIC |
11 | g.119278292T= | CA2003906085 | CBL | c.*674T= (n.*674T=) c.1222T= (p.Trp408=) c.1216T= (p.Trp406=) | |
11 | g.119278292_119278297delinsTGGCAG | CA2003906086 | CBL | c.*674_*679delinsTGGCAG (n.*674_*679delinsTGGCAG) c.1222_1227delinsTGGCAG (p.Trp408=) c.1216_1221delinsTGGCAG (p.Trp406=) | |
11 | g.119278293G>A | CA382912914 | CBL | c.*675G>A (n.*675G>A) c.1223G>A (p.Trp408Ter) c.1217G>A (p.Trp406Ter) | dbSNP |
11 | g.119278293G>C | CA382912916 | CBL | c.*675G>C (n.*675G>C) c.1223G>C (p.Trp408Ser) c.1217G>C (p.Trp406Ser) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
11 | g.119278293G= | CA2003906092 | CBL | c.*675G= (n.*675G=) c.1223G= (p.Trp408=) c.1217G= (p.Trp406=) | |
11 | g.119278293G>T | CA382912919 | CBL | c.*675G>T (n.*675G>T) c.1223G>T (p.Trp408Leu) c.1217G>T (p.Trp406Leu) | dbSNP COSMIC |
11 | g.119278294_119278298del | CA6318456 | CBL | c.*676_*679+1del c.1224_1227+1del c.1218_1221+1del | dbSNP ExAC gnomAD v2 |
11 | g.119278294G>A | CA382912922 | CBL | c.*676G>A (n.*676G>A) c.1224G>A (p.Trp408Ter) c.1218G>A (p.Trp406Ter) | dbSNP |
11 | g.119278294G>C | CA382912930 | CBL | c.*676G>C (n.*676G>C) c.1224G>C (p.Trp408Cys) c.1218G>C (p.Trp406Cys) | ClinVar dbSNP COSMIC |
11 | g.119278294G>T | CA382912931 | CBL | c.*676G>T (n.*676G>T) c.1224G>T (p.Trp408Cys) c.1218G>T (p.Trp406Cys) | dbSNP gnomAD v4 COSMIC |
11 | g.119278295C>A | CA382912943 | CBL | c.*677C>A (n.*677C>A) c.1225C>A (p.Gln409Lys) c.1219C>A (p.Gln407Lys) | |
11 | g.119278295C>G | CA382912945 | CBL | c.*677C>G (n.*677C>G) c.1225C>G (p.Gln409Glu) c.1219C>G (p.Gln407Glu) | dbSNP |
11 | g.119278295C>T | CA382912947 | CBL | c.*677C>T (n.*677C>T) c.1225C>T (p.Gln409Ter) c.1219C>T (p.Gln407Ter) | dbSNP |
11 | g.119278296A= | CA2003906095 | CBL | c.*678A= (n.*678A=) c.1226A= (p.Gln409=) c.1220A= (p.Gln407=) | |
11 | g.119278296A>C | CA382912950 | CBL | c.*678A>C (n.*678A>C) c.1226A>C (p.Gln409Pro) c.1220A>C (p.Gln407Pro) | |
11 | g.119278296A>G | CA382912951 | CBL | c.*678A>G (n.*678A>G) c.1226A>G (p.Gln409Arg) c.1220A>G (p.Gln407Arg) | dbSNP gnomAD v2 |
11 | g.119278296A>T | CA382912948 | CBL | c.*678A>T (n.*678A>T) c.1226A>T (p.Gln409Leu) c.1220A>T (p.Gln407Leu) | dbSNP |
11 | g.119278297G>A | CA477136219 | CBL | c.*679G>A (n.*679G>A) c.1227G>A (p.Gln409=) c.1221G>A (p.Gln407=) | dbSNP |
11 | g.119278297G>C | CA382912953 | CBL | c.*679G>C (n.*679G>C) c.1227G>C (p.Gln409His) c.1221G>C (p.Gln407His) | dbSNP |
11 | g.119278297G= | CA2003906097 | CBL | c.*679G= (n.*679G=) c.1227G= (p.Gln409=) c.1221G= (p.Gln407=) | |
11 | g.119278297G>T | CA382912952 | CBL | c.*679G>T (n.*679G>T) c.1227G>T (p.Gln409His) c.1221G>T (p.Gln407His) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.119278298dup | CA2575031915 | CBL | c.*679+1dup c.1227+1dup c.1221+1dup | |
11 | g.119278298G>A | CA382912955 | CBL | c.*679+1G>A (n.*679+1G>A) c.1227+1G>A (n.1227+1G>A) c.1221+1G>A (n.1221+1G>A) | dbSNP gnomAD v4 |
11 | g.119278298G>C | CA382912954 | CBL | c.*679+1G>C (n.*679+1G>C) c.1227+1G>C (n.1227+1G>C) c.1221+1G>C (n.1221+1G>C) | dbSNP |
11 | g.119278298G>T | CA382912956 | CBL | c.*679+1G>T (n.*679+1G>T) c.1227+1G>T (n.1227+1G>T) c.1221+1G>T (n.1221+1G>T) | |
11 | g.119278299T>A | CA382912960 | CBL | c.*679+2T>A (n.*679+2T>A) c.1227+2T>A (n.1227+2T>A) c.1221+2T>A (n.1221+2T>A) | dbSNP |
11 | g.119278299T>C | CA382912962 | CBL | c.*679+2T>C (n.*679+2T>C) c.1227+2T>C (n.1227+2T>C) c.1221+2T>C (n.1221+2T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
11 | g.119278299T>G | CA382912963 | CBL | c.*679+2T>G (n.*679+2T>G) c.1227+2T>G (n.1227+2T>G) c.1221+2T>G (n.1221+2T>G) | dbSNP |
11 | g.119278299_119278301delinsAAG | CA282027 | CBL | c.*679+2_*679+4delinsAAG (n.*679+2_*679+4delinsAAG) c.1227+2_1227+4delinsAAG (n.1227+2_1227+4delinsAAG) c.1221+2_1221+4delinsAAG (n.1221+2_1221+4delinsAAG) | ClinVar dbSNP |
11 | g.119278299_119278301delinsTAC | CA2003906101 | CBL | c.*679+2_*679+4delinsTAC (n.*679+2_*679+4delinsTAC) c.1227+2_1227+4delinsTAC (n.1227+2_1227+4delinsTAC) c.1221+2_1221+4delinsTAC (n.1221+2_1221+4delinsTAC) | |
11 | g.119278299_119278311del | CA2695202280 | CBL | c.*679+2_*679+14del (n.*679+2_*679+14del) c.1227+2_1227+14del (n.1227+2_1227+14del) c.1221+2_1221+14del (n.1221+2_1221+14del) | |
11 | g.119278300A= | CA2003906105 | CBL | c.*679+3A= (n.*679+3A=) c.1227+3A= (n.1227+3A=) c.1221+3A= (n.1221+3A=) | |
11 | g.119278300A>C | CA2724946266 | CBL | c.*679+3A>C (n.*679+3A>C) c.1227+3A>C (n.1227+3A>C) c.1221+3A>C (n.1221+3A>C) | dbSNP |
11 | g.119278300A>G | CA6318458 | CBL | c.*679+3A>G (n.*679+3A>G) c.1227+3A>G (n.1227+3A>G) c.1221+3A>G (n.1221+3A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.119278300A>T | CA2724946265 | CBL | c.*679+3A>T (n.*679+3A>T) c.1227+3A>T (n.1227+3A>T) c.1221+3A>T (n.1221+3A>T) | dbSNP |
11 | g.119278301C>A | CA2724941179 | CBL | c.*679+4C>A (n.*679+4C>A) c.1227+4C>A (n.1227+4C>A) c.1221+4C>A (n.1221+4C>A) | dbSNP |
11 | g.119278301C= | CA2003906107 | CBL | c.*679+4C= (n.*679+4C=) c.1227+4C= (n.1227+4C=) c.1221+4C= (n.1221+4C=) | |
11 | g.119278301C>G | CA602578943 | CBL | c.*679+4C>G (n.*679+4C>G) c.1227+4C>G (n.1227+4C>G) c.1221+4C>G (n.1221+4C>G) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.119278301C>T | CA135698 | CBL | c.*679+4C>T (n.*679+4C>T) c.1227+4C>T (n.1227+4C>T) c.1221+4C>T (n.1221+4C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.119278302G>A | CA6318459 | CBL | c.*679+5G>A (n.*679+5G>A) c.1227+5G>A (n.1227+5G>A) c.1221+5G>A (n.1221+5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.119278302G>C | CA2580083692 | CBL | c.*679+5G>C (n.*679+5G>C) c.1227+5G>C (n.1227+5G>C) c.1221+5G>C (n.1221+5G>C) | ClinVar dbSNP |
11 | g.119278302G= | CA2003906110 | CBL | c.*679+5G= (n.*679+5G=) c.1227+5G= (n.1227+5G=) c.1221+5G= (n.1221+5G=) | |
11 | g.119278302G>T | CA2724944584 | CBL | c.*679+5G>T (n.*679+5G>T) c.1227+5G>T (n.1227+5G>T) c.1221+5G>T (n.1221+5G>T) | dbSNP |
11 | g.119278302_119278305del | CA2695215607 | CBL | c.*679+5_*679+8del (n.*679+5_*679+8del) c.1227+5_1227+8del (n.1227+5_1227+8del) c.1221+5_1221+8del (n.1221+5_1221+8del) | |
11 | g.119278303G>A | CA2725174979 | CBL | c.*679+6G>A (n.*679+6G>A) c.1227+6G>A (n.1227+6G>A) c.1221+6G>A (n.1221+6G>A) | dbSNP |
11 | g.119278303G>C | CA2725174943 | CBL | c.*679+6G>C (n.*679+6G>C) c.1227+6G>C (n.1227+6G>C) c.1221+6G>C (n.1221+6G>C) | dbSNP |
11 | g.119278303G>T | CA2725174950 | CBL | c.*679+6G>T (n.*679+6G>T) c.1227+6G>T (n.1227+6G>T) c.1221+6G>T (n.1221+6G>T) | dbSNP |
11 | g.119278304A= | CA2003906112 | CBL | c.*679+7A= (n.*679+7A=) c.1227+7A= (n.1227+7A=) c.1221+7A= (n.1221+7A=) | |
11 | g.119278304A>C | CA2003906113 | CBL | c.*679+7A>C (n.*679+7A>C) c.1227+7A>C (n.1227+7A>C) c.1221+7A>C (n.1221+7A>C) | dbSNP |
11 | g.119278304A>G | CA2724997572 | CBL | c.*679+7A>G (n.*679+7A>G) c.1227+7A>G (n.1227+7A>G) c.1221+7A>G (n.1221+7A>G) | dbSNP |
11 | g.119278304A>T | CA2724997570 | CBL | c.*679+7A>T (n.*679+7A>T) c.1227+7A>T (n.1227+7A>T) c.1221+7A>T (n.1221+7A>T) | dbSNP |
11 | g.119278305T>A | CA2724946267 | CBL | c.*679+8T>A (n.*679+8T>A) c.1227+8T>A (n.1227+8T>A) c.1221+8T>A (n.1221+8T>A) | dbSNP |
11 | g.119278305T>G | CA6318460 | CBL | c.*679+8T>G (n.*679+8T>G) c.1227+8T>G (n.1227+8T>G) c.1221+8T>G (n.1221+8T>G) | dbSNP ExAC gnomAD v2 |
11 | g.119278305T= | CA2003906114 | CBL | c.*679+8T= (n.*679+8T=) c.1227+8T= (n.1227+8T=) c.1221+8T= (n.1221+8T=) | |
11 | g.119278306C>G | CA2725174998 | CBL | c.*679+9C>G (n.*679+9C>G) c.1227+9C>G (n.1227+9C>G) c.1221+9C>G (n.1221+9C>G) | dbSNP |
11 | g.119278306C>T | CA2725174984 | CBL | c.*679+9C>T (n.*679+9C>T) c.1227+9C>T (n.1227+9C>T) c.1221+9C>T (n.1221+9C>T) | dbSNP |
11 | g.119278307T>C | CA10637375 | CBL | c.*679+10T>C (n.*679+10T>C) c.1227+10T>C (n.1227+10T>C) c.1221+10T>C (n.1221+10T>C) | ClinVar dbSNP |
11 | g.119278307T= | CA2003906116 | CBL | c.*679+10T= (n.*679+10T=) c.1227+10T= (n.1227+10T=) c.1221+10T= (n.1221+10T=) | |
11 | g.119278308A>G | CA2725175071 | CBL | c.*679+11A>G (n.*679+11A>G) c.1227+11A>G (n.1227+11A>G) c.1221+11A>G (n.1221+11A>G) | dbSNP |
11 | g.119278308A>T | CA2725175086 | CBL | c.*679+11A>T (n.*679+11A>T) c.1227+11A>T (n.1227+11A>T) c.1221+11A>T (n.1221+11A>T) | dbSNP |
11 | g.119278309A>C | CA2725175202 | CBL | c.*679+12A>C (n.*679+12A>C) c.1227+12A>C (n.1227+12A>C) c.1221+12A>C (n.1221+12A>C) | dbSNP |
11 | g.119278309A>G | CA2725175201 | CBL | c.*679+12A>G (n.*679+12A>G) c.1227+12A>G (n.1227+12A>G) c.1221+12A>G (n.1221+12A>G) | dbSNP |
11 | g.119278309A>T | CA2725175200 | CBL | c.*679+12A>T (n.*679+12A>T) c.1227+12A>T (n.1227+12A>T) c.1221+12A>T (n.1221+12A>T) | dbSNP |
11 | g.119278310A>C | CA2725175203 | CBL | c.*679+13A>C (n.*679+13A>C) c.1227+13A>C (n.1227+13A>C) c.1221+13A>C (n.1221+13A>C) | dbSNP |
11 | g.119278310A>T | CA2725175204 | CBL | c.*679+13A>T (n.*679+13A>T) c.1227+13A>T (n.1227+13A>T) c.1221+13A>T (n.1221+13A>T) | dbSNP |
11 | g.119278311C>A | CA2725175207 | CBL | c.*679+14C>A (n.*679+14C>A) c.1227+14C>A (n.1227+14C>A) c.1221+14C>A (n.1221+14C>A) | dbSNP |
11 | g.119278311C>G | CA2725175210 | CBL | c.*679+14C>G (n.*679+14C>G) c.1227+14C>G (n.1227+14C>G) c.1221+14C>G (n.1221+14C>G) | dbSNP |
11 | g.119278311C>T | CA2616387234 | CBL | c.*679+14C>T (n.*679+14C>T) c.1227+14C>T (n.1227+14C>T) c.1221+14C>T (n.1221+14C>T) | dbSNP gnomAD v4 |
11 | g.119278312A= | CA2003906118 | CBL | c.*679+15A= (n.*679+15A=) c.1227+15A= (n.1227+15A=) c.1221+15A= (n.1221+15A=) | |
11 | g.119278312A>G | CA672425431 | CBL | c.*679+15A>G (n.*679+15A>G) c.1227+15A>G (n.1227+15A>G) c.1221+15A>G (n.1221+15A>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.119278312A>T | CA2724975273 | CBL | c.*679+15A>T (n.*679+15A>T) c.1227+15A>T (n.1227+15A>T) c.1221+15A>T (n.1221+15A>T) | dbSNP |
11 | g.119278313G>A | CA2575031920 | CBL | c.*679+16G>A (n.*679+16G>A) c.1227+16G>A (n.1227+16G>A) c.1221+16G>A (n.1221+16G>A) | dbSNP gnomAD v4 |
11 | g.119278313G>C | CA2725175307 | CBL | c.*679+16G>C (n.*679+16G>C) c.1227+16G>C (n.1227+16G>C) c.1221+16G>C (n.1221+16G>C) | dbSNP |
11 | g.119278314C>A | CA6318461 | CBL | c.*679+17C>A (n.*679+17C>A) c.1227+17C>A (n.1227+17C>A) c.1221+17C>A (n.1221+17C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.119278314C= | CA2003906120 | CBL | c.*679+17C= (n.*679+17C=) c.1227+17C= (n.1227+17C=) c.1221+17C= (n.1221+17C=) | |
11 | g.119278314C>G | CA2724944177 | CBL | c.*679+17C>G (n.*679+17C>G) c.1227+17C>G (n.1227+17C>G) c.1221+17C>G (n.1221+17C>G) | dbSNP |
11 | g.119278314C>T | CA6318462 | CBL | c.*679+17C>T (n.*679+17C>T) c.1227+17C>T (n.1227+17C>T) c.1221+17C>T (n.1221+17C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.119278315G>A | CA6318463 | CBL | c.*679+18G>A (n.*679+18G>A) c.1227+18G>A (n.1227+18G>A) c.1221+18G>A (n.1221+18G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.119278315G>C | CA2724945839 | CBL | c.*679+18G>C (n.*679+18G>C) c.1227+18G>C (n.1227+18G>C) c.1221+18G>C (n.1221+18G>C) | dbSNP |
11 | g.119278315G= | CA2003906122 | CBL | c.*679+18G= (n.*679+18G=) c.1227+18G= (n.1227+18G=) c.1221+18G= (n.1221+18G=) | |
11 | g.119278315G>T | CA2724945838 | CBL | c.*679+18G>T (n.*679+18G>T) c.1227+18G>T (n.1227+18G>T) c.1221+18G>T (n.1221+18G>T) | dbSNP |
11 | g.119278316A= | CA2003906123 | CBL | c.*679+19A= (n.*679+19A=) c.1227+19A= (n.1227+19A=) c.1221+19A= (n.1221+19A=) | |
11 | g.119278316A>C | CA2725175345 | CBL | c.*679+19A>C (n.*679+19A>C) c.1227+19A>C (n.1227+19A>C) c.1221+19A>C (n.1221+19A>C) | dbSNP |
11 | g.119278316A>G | CA2725175347 | CBL | c.*679+19A>G (n.*679+19A>G) c.1227+19A>G (n.1227+19A>G) c.1221+19A>G (n.1221+19A>G) | dbSNP |
11 | g.119278316A>T | CA2725175344 | CBL | c.*679+19A>T (n.*679+19A>T) c.1227+19A>T (n.1227+19A>T) c.1221+19A>T (n.1221+19A>T) | dbSNP |
11 | g.119278317dup | CA6318464 | CBL | c.*679+20dup (n.*679+20dup) c.1227+20dup (n.1227+20dup) c.1221+20dup (n.1221+20dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.119278318T>C | CA6318465 | CBL | c.*679+21T>C (n.*679+21T>C) c.1227+21T>C (n.1227+21T>C) c.1221+21T>C (n.1221+21T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.119278318T= | CA2003906126 | CBL | c.*679+21T= (n.*679+21T=) c.1227+21T= (n.1227+21T=) c.1221+21T= (n.1221+21T=) | |
11 | g.119278322_119278323dup | CA2793839084 | CBL | c.*679+25_*679+26dup (n.*679+25_*679+26dup) c.1227+25_1227+26dup (n.1227+25_1227+26dup) c.1221+25_1221+26dup (n.1221+25_1221+26dup) |