UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.85270632_85270669delinsAGTTTTATATTTCTAAGTTTCAGCACTTCATCTGTAAT | CA2476012510 | BCL10 | c.295_332delinsATTACAGATGAAGTGCTGAAACTTAGAAATATAAAACT (p.Ile99=) n.361_398delinsATTACAGATGAAGTGCTGAAACTTAGAAATATAAAACT n.826_863delinsATTACAGATGAAGTGCTGAAACTTAGAAATATAAAACT c.454_491delinsATTACAGATGAAGTGCTGAAACTTAGAAATATAAAACT (p.Ile152=) c.241_278delinsATTACAGATGAAGTGCTGAAACTTAGAAATATAAAACT (p.Ile81=) | |
| 1 | g.85270633_85270669del | CA2476012511 | BCL10 | c.295_331del (p.Ile99Ter) n.361_397del n.826_862del c.454_490del (p.Ile152Ter) c.241_277del (p.Ile81Ter) | dbSNP |
| 1 | g.85270639T>A | CA340951016 | BCL10 | c.325A>T (p.Ile109Leu) n.391A>T n.856A>T c.484A>T (p.Ile162Leu) c.271A>T (p.Ile91Leu) | |
| 1 | g.85270639T>C | CA340951027 | BCL10 | c.325A>G (p.Ile109Val) n.391A>G n.856A>G c.484A>G (p.Ile162Val) c.271A>G (p.Ile91Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.85270639T>G | CA340951024 | BCL10 | c.325A>C (p.Ile109Leu) n.391A>C n.856A>C c.484A>C (p.Ile162Leu) c.271A>C (p.Ile91Leu) | |
| 1 | g.85270639T= | CA2476012513 | BCL10 | c.325A= (p.Ile109=) n.391A= n.856A= c.484A= (p.Ile162=) c.271A= (p.Ile91=) | |
| 1 | g.85270640A= | CA2476012514 | BCL10 | c.324T= (p.Asn108=) n.390T= n.855T= c.483T= (p.Asn161=) c.270T= (p.Asn90=) | |
| 1 | g.85270640A>C | CA340951030 | BCL10 | c.324T>G (p.Asn108Lys) n.390T>G n.855T>G c.483T>G (p.Asn161Lys) c.270T>G (p.Asn90Lys) | |
| 1 | g.85270640A>G | CA418704228 | BCL10 | c.324T>C (p.Asn108=) n.390T>C n.855T>C c.483T>C (p.Asn161=) c.270T>C (p.Asn90=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.85270640A>T | CA340951031 | BCL10 | c.324T>A (p.Asn108Lys) n.390T>A n.855T>A c.483T>A (p.Asn161Lys) c.270T>A (p.Asn90Lys) | |
| 1 | g.85270641T>A | CA340951032 | BCL10 | c.323A>T (p.Asn108Ile) n.389A>T n.854A>T c.482A>T (p.Asn161Ile) c.269A>T (p.Asn90Ile) | |
| 1 | g.85270641T>C | CA929781 | BCL10 | c.323A>G (p.Asn108Ser) n.389A>G n.854A>G c.482A>G (p.Asn161Ser) c.269A>G (p.Asn90Ser) | dbSNP ExAC gnomAD v2 |
| 1 | g.85270641T>G | CA340951034 | BCL10 | c.323A>C (p.Asn108Thr) n.389A>C n.854A>C c.482A>C (p.Asn161Thr) c.269A>C (p.Asn90Thr) | |
| 1 | g.85270641T= | CA2476012515 | BCL10 | c.323A= (p.Asn108=) n.389A= n.854A= c.482A= (p.Asn161=) c.269A= (p.Asn90=) | |
| 1 | g.85270642T>A | CA340951037 | BCL10 | c.322A>T (p.Asn108Tyr) n.388A>T n.853A>T c.481A>T (p.Asn161Tyr) c.268A>T (p.Asn90Tyr) | |
| 1 | g.85270642T>C | CA340951040 | BCL10 | c.322A>G (p.Asn108Asp) n.388A>G n.853A>G c.481A>G (p.Asn161Asp) c.268A>G (p.Asn90Asp) | ClinVar dbSNP |
| 1 | g.85270642T>G | CA340951042 | BCL10 | c.322A>C (p.Asn108His) n.388A>C n.853A>C c.481A>C (p.Asn161His) c.268A>C (p.Asn90His) | COSMIC |
| 1 | g.85270642T= | CA2476012516 | BCL10 | c.322A= (p.Asn108=) n.388A= n.853A= c.481A= (p.Asn161=) c.268A= (p.Asn90=) | |
| 1 | g.85270643T>A | CA340951044 | BCL10 | c.321A>T (p.Arg107Ser) n.387A>T n.852A>T c.480A>T (p.Arg160Ser) c.267A>T (p.Arg89Ser) | |
| 1 | g.85270643T>C | CA418704232 | BCL10 | c.321A>G (p.Arg107=) n.387A>G n.852A>G c.480A>G (p.Arg160=) c.267A>G (p.Arg89=) | gnomAD v4 |
| 1 | g.85270643T>G | CA340951048 | BCL10 | c.321A>C (p.Arg107Ser) n.387A>C n.852A>C c.480A>C (p.Arg160Ser) c.267A>C (p.Arg89Ser) | |
| 1 | g.85270644C>A | CA340951049 | BCL10 | c.320G>T (p.Arg107Ile) n.386G>T n.851G>T c.479G>T (p.Arg160Ile) c.266G>T (p.Arg89Ile) | |
| 1 | g.85270644C= | CA2476012517 | BCL10 | c.320G= (p.Arg107=) n.386G= n.851G= c.479G= (p.Arg160=) c.266G= (p.Arg89=) | |
| 1 | g.85270644C>G | CA340951051 | BCL10 | c.320G>C (p.Arg107Thr) n.386G>C n.851G>C c.479G>C (p.Arg160Thr) c.266G>C (p.Arg89Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.85270644C>T | CA340951053 | BCL10 | c.320G>A (p.Arg107Lys) n.386G>A n.851G>A c.479G>A (p.Arg160Lys) c.266G>A (p.Arg89Lys) | |
| 1 | g.85270645T>A | CA340951056 | BCL10 | c.319A>T (p.Arg107Ter) n.385A>T n.850A>T c.478A>T (p.Arg160Ter) c.265A>T (p.Arg89Ter) | |
| 1 | g.85270645T>C | CA340951058 | BCL10 | c.319A>G (p.Arg107Gly) n.385A>G n.850A>G c.478A>G (p.Arg160Gly) c.265A>G (p.Arg89Gly) | |
| 1 | g.85270645T>G | CA418704234 | BCL10 | c.319A>C (p.Arg107=) n.385A>C n.850A>C c.478A>C (p.Arg160=) c.265A>C (p.Arg89=) | |
| 1 | g.85270646A>C | CA418704237 | BCL10 | c.318T>G (p.Leu106=) n.384T>G n.849T>G c.477T>G (p.Leu159=) c.264T>G (p.Leu88=) | |
| 1 | g.85270646A>G | CA418704239 | BCL10 | c.318T>C (p.Leu106=) n.384T>C n.849T>C c.477T>C (p.Leu159=) c.264T>C (p.Leu88=) | |
| 1 | g.85270646A>T | CA418704240 | BCL10 | c.318T>A (p.Leu106=) n.384T>A n.849T>A c.477T>A (p.Leu159=) c.264T>A (p.Leu88=) | |
| 1 | g.85270647A>C | CA340951061 | BCL10 | c.317T>G (p.Leu106Arg) n.383T>G n.848T>G c.476T>G (p.Leu159Arg) c.263T>G (p.Leu88Arg) | |
| 1 | g.85270647A>G | CA340951064 | BCL10 | c.317T>C (p.Leu106Pro) n.383T>C n.848T>C c.476T>C (p.Leu159Pro) c.263T>C (p.Leu88Pro) | |
| 1 | g.85270647A>T | CA340951066 | BCL10 | c.317T>A (p.Leu106His) n.383T>A n.848T>A c.476T>A (p.Leu159His) c.263T>A (p.Leu88His) | |
| 1 | g.85270648G>A | CA340951069 | BCL10 | c.316C>T (p.Leu106Phe) n.382C>T n.847C>T c.475C>T (p.Leu159Phe) c.262C>T (p.Leu88Phe) | |
| 1 | g.85270648G>C | CA340951073 | BCL10 | c.316C>G (p.Leu106Val) n.382C>G n.847C>G c.475C>G (p.Leu159Val) c.262C>G (p.Leu88Val) | |
| 1 | g.85270648G>T | CA340951077 | BCL10 | c.316C>A (p.Leu106Ile) n.382C>A n.847C>A c.475C>A (p.Leu159Ile) c.262C>A (p.Leu88Ile) | |
| 1 | g.85270649T>A | CA340951078 | BCL10 | c.315A>T (p.Lys105Asn) n.381A>T n.846A>T c.474A>T (p.Lys158Asn) c.261A>T (p.Lys87Asn) | |
| 1 | g.85270649T>C | CA418704242 | BCL10 | c.315A>G (p.Lys105=) n.381A>G n.846A>G c.474A>G (p.Lys158=) c.261A>G (p.Lys87=) | |
| 1 | g.85270649T>G | CA340951081 | BCL10 | c.315A>C (p.Lys105Asn) n.381A>C n.846A>C c.474A>C (p.Lys158Asn) c.261A>C (p.Lys87Asn) | |
| 1 | g.85270650T>A | CA340951083 | BCL10 | c.314A>T (p.Lys105Ile) n.380A>T n.845A>T c.473A>T (p.Lys158Ile) c.260A>T (p.Lys87Ile) | |
| 1 | g.85270650T>C | CA340951086 | BCL10 | c.314A>G (p.Lys105Arg) n.380A>G n.845A>G c.473A>G (p.Lys158Arg) c.260A>G (p.Lys87Arg) | |
| 1 | g.85270650T>G | CA340951088 | BCL10 | c.314A>C (p.Lys105Thr) n.380A>C n.845A>C c.473A>C (p.Lys158Thr) c.260A>C (p.Lys87Thr) | |
| 1 | g.85270651T>A | CA340951098 | BCL10 | c.313A>T (p.Lys105Ter) n.379A>T n.844A>T c.472A>T (p.Lys158Ter) c.259A>T (p.Lys87Ter) | |
| 1 | g.85270651T>C | CA340951095 | BCL10 | c.313A>G (p.Lys105Glu) n.379A>G n.844A>G c.472A>G (p.Lys158Glu) c.259A>G (p.Lys87Glu) | |
| 1 | g.85270651T>G | CA340951091 | BCL10 | c.313A>C (p.Lys105Gln) n.379A>C n.844A>C c.472A>C (p.Lys158Gln) c.259A>C (p.Lys87Gln) | |
| 1 | g.85270652C>A | CA418704244 | BCL10 | c.312G>T (p.Leu104=) n.378G>T n.843G>T c.471G>T (p.Leu157=) c.258G>T (p.Leu86=) | |
| 1 | g.85270652C>G | CA418704245 | BCL10 | c.312G>C (p.Leu104=) n.378G>C n.843G>C c.471G>C (p.Leu157=) c.258G>C (p.Leu86=) | |
| 1 | g.85270652C>T | CA418704246 | BCL10 | c.312G>A (p.Leu104=) n.378G>A n.843G>A c.471G>A (p.Leu157=) c.258G>A (p.Leu86=) | |
| 1 | g.85270653A>C | CA340951100 | BCL10 | c.311T>G (p.Leu104Arg) n.377T>G n.842T>G c.470T>G (p.Leu157Arg) c.257T>G (p.Leu86Arg) |