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.85267919_85267921delinsTTT | CA1148224394 | BCL10 | c.375_377delinsAAA (p.Ser125=) c.408_410delinsAAA (p.Ser136=) n.939_941delinsAAA c.567_569delinsAAA (p.Ser189=) c.534_536delinsAAA (p.Ser178=) c.354_356delinsAAA (p.Ser118=) | |
| 1 | g.85267921del | CA212594 | BCL10 | c.377del (p.Asn126IlefsTer11) c.410del (p.Asn137IlefsTer11) n.941del c.569del (p.Asn190IlefsTer11) c.536del (p.Asn179IlefsTer11) c.356del (p.Asn119IlefsTer11) | ClinVar dbSNP |
| 1 | g.85267921T>A | CA418704298 | BCL10 | c.375A>T (p.Ser125=) c.408A>T (p.Ser136=) n.939A>T c.567A>T (p.Ser189=) c.534A>T (p.Ser178=) c.354A>T (p.Ser118=) | |
| 1 | g.85267921T>C | CA418704296 | BCL10 | c.375A>G (p.Ser125=) c.408A>G (p.Ser136=) n.939A>G c.567A>G (p.Ser189=) c.534A>G (p.Ser178=) c.354A>G (p.Ser118=) | |
| 1 | g.85267921T>G | CA418704297 | BCL10 | c.375A>C (p.Ser125=) c.408A>C (p.Ser136=) n.939A>C c.567A>C (p.Ser189=) c.534A>C (p.Ser178=) c.354A>C (p.Ser118=) | |
| 1 | g.85267922G>A | CA340949403 | BCL10 | c.374C>T (p.Ser125Leu) c.407C>T (p.Ser136Leu) n.938C>T c.566C>T (p.Ser189Leu) c.533C>T (p.Ser178Leu) c.353C>T (p.Ser118Leu) | |
| 1 | g.85267922G>C | CA340949407 | BCL10 | c.374C>G (p.Ser125Ter) c.407C>G (p.Ser136Ter) n.938C>G c.566C>G (p.Ser189Ter) c.533C>G (p.Ser178Ter) c.353C>G (p.Ser118Ter) | COSMIC |
| 1 | g.85267922G>T | CA340949410 | BCL10 | c.374C>A (p.Ser125Ter) c.407C>A (p.Ser136Ter) n.938C>A c.566C>A (p.Ser189Ter) c.533C>A (p.Ser178Ter) c.353C>A (p.Ser118Ter) | |
| 1 | g.85267922_85267923insCCTGTTCTAGAAGTAGGCAG | CA2696330246 | BCL10 | c.374_375insTGCCTACTTCTAGAACAGGC (p.Asn126AlafsTer4) c.407_408insTGCCTACTTCTAGAACAGGC (p.Asn137AlafsTer4) n.938_939insTGCCTACTTCTAGAACAGGC c.566_567insTGCCTACTTCTAGAACAGGC (p.Asn190AlafsTer4) c.533_534insTGCCTACTTCTAGAACAGGC (p.Asn179AlafsTer4) c.353_354insTGCCTACTTCTAGAACAGGC (p.Asn119AlafsTer4) | dbSNP |
| 1 | g.85267923A>C | CA340949421 | BCL10 | c.373T>G (p.Ser125Ala) c.406T>G (p.Ser136Ala) n.937T>G c.565T>G (p.Ser189Ala) c.532T>G (p.Ser178Ala) c.352T>G (p.Ser118Ala) | |
| 1 | g.85267923A>G | CA340949425 | BCL10 | c.373T>C (p.Ser125Pro) c.406T>C (p.Ser136Pro) n.937T>C c.565T>C (p.Ser189Pro) c.532T>C (p.Ser178Pro) c.352T>C (p.Ser118Pro) | |
| 1 | g.85267923A>T | CA340949418 | BCL10 | c.373T>A (p.Ser125Thr) c.406T>A (p.Ser136Thr) n.937T>A c.565T>A (p.Ser189Thr) c.532T>A (p.Ser178Thr) c.352T>A (p.Ser118Thr) | |
| 1 | g.85267924T>A | CA340949429 | BCL10 | c.372A>T (p.Arg124Ser) c.405A>T (p.Arg135Ser) n.936A>T c.564A>T (p.Arg188Ser) c.531A>T (p.Arg177Ser) c.351A>T (p.Arg117Ser) | |
| 1 | g.85267924T>C | CA418704299 | BCL10 | c.372A>G (p.Arg124=) c.405A>G (p.Arg135=) n.936A>G c.564A>G (p.Arg188=) c.531A>G (p.Arg177=) c.351A>G (p.Arg117=) | gnomAD v4 |
| 1 | g.85267924T>G | CA340949427 | BCL10 | c.372A>C (p.Arg124Ser) c.405A>C (p.Arg135Ser) n.936A>C c.564A>C (p.Arg188Ser) c.531A>C (p.Arg177Ser) c.351A>C (p.Arg117Ser) | |
| 1 | g.85267924_85267925insAC | CA2696330248 | BCL10 | c.371_372insGT (p.Ser125TyrfsTer13) c.404_405insGT (p.Ser136TyrfsTer13) n.935_936insGT c.563_564insGT (p.Ser189TyrfsTer13) c.530_531insGT (p.Ser178TyrfsTer13) c.350_351insGT (p.Ser118TyrfsTer13) | dbSNP |
| 1 | g.85267925C>A | CA340949432 | BCL10 | c.371G>T (p.Arg124Ile) c.404G>T (p.Arg135Ile) n.935G>T c.563G>T (p.Arg188Ile) c.530G>T (p.Arg177Ile) c.350G>T (p.Arg117Ile) | dbSNP |
| 1 | g.85267925C= | CA2476011409 | BCL10 | c.371G= (p.Arg124=) c.404G= (p.Arg135=) n.935G= c.563G= (p.Arg188=) c.530G= (p.Arg177=) c.350G= (p.Arg117=) | |
| 1 | g.85267925C>G | CA340949435 | BCL10 | c.371G>C (p.Arg124Thr) c.404G>C (p.Arg135Thr) n.935G>C c.563G>C (p.Arg188Thr) c.530G>C (p.Arg177Thr) c.350G>C (p.Arg117Thr) | |
| 1 | g.85267925C>T | CA340949442 | BCL10 | c.371G>A (p.Arg124Lys) c.404G>A (p.Arg135Lys) n.935G>A c.563G>A (p.Arg188Lys) c.530G>A (p.Arg177Lys) c.350G>A (p.Arg117Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.85267926T>A | CA340949444 | BCL10 | c.370A>T (p.Arg124Ter) c.403A>T (p.Arg135Ter) n.934A>T c.562A>T (p.Arg188Ter) c.529A>T (p.Arg177Ter) c.349A>T (p.Arg117Ter) | COSMIC |
| 1 | g.85267926T>C | CA340949445 | BCL10 | c.370A>G (p.Arg124Gly) c.403A>G (p.Arg135Gly) n.934A>G c.562A>G (p.Arg188Gly) c.529A>G (p.Arg177Gly) c.349A>G (p.Arg117Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.85267926T>G | CA418704301 | BCL10 | c.370A>C (p.Arg124=) c.403A>C (p.Arg135=) n.934A>C c.562A>C (p.Arg188=) c.529A>C (p.Arg177=) c.349A>C (p.Arg117=) | |
| 1 | g.85267926T= | CA2476011410 | BCL10 | c.370A= (p.Arg124=) c.403A= (p.Arg135=) n.934A= c.562A= (p.Arg188=) c.529A= (p.Arg177=) c.349A= (p.Arg117=) | |
| 1 | g.85267927G>A | CA929748 | BCL10 | c.369C>T (p.Ser123=) c.402C>T (p.Ser134=) n.933C>T c.561C>T (p.Ser187=) c.528C>T (p.Ser176=) c.348C>T (p.Ser116=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.85267927G>C | CA418704302 | BCL10 | c.369C>G (p.Ser123=) c.402C>G (p.Ser134=) n.933C>G c.561C>G (p.Ser187=) c.528C>G (p.Ser176=) c.348C>G (p.Ser116=) | |
| 1 | g.85267927G= | CA1148269216 | BCL10 | c.369C= (p.Ser123=) c.402C= (p.Ser134=) n.933C= c.561C= (p.Ser187=) c.528C= (p.Ser176=) c.348C= (p.Ser116=) | |
| 1 | g.85267927G>T | CA929747 | BCL10 | c.369C>A (p.Ser123=) c.402C>A (p.Ser134=) n.933C>A c.561C>A (p.Ser187=) c.528C>A (p.Ser176=) c.348C>A (p.Ser116=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.85267928del | CA2646404645 | BCL10 | c.369del (p.Arg124AspfsTer13) c.402del (p.Arg135AspfsTer13) n.933del c.561del (p.Arg188AspfsTer13) c.528del (p.Arg177AspfsTer13) c.348del (p.Arg117AspfsTer13) | gnomAD v4 |
| 1 | g.85267928G>A | CA340949446 | BCL10 | c.368C>T (p.Ser123Phe) c.401C>T (p.Ser134Phe) n.932C>T c.560C>T (p.Ser187Phe) c.527C>T (p.Ser176Phe) c.347C>T (p.Ser116Phe) | gnomAD v4 |
| 1 | g.85267928G>C | CA340949448 | BCL10 | c.368C>G (p.Ser123Cys) c.401C>G (p.Ser134Cys) n.932C>G c.560C>G (p.Ser187Cys) c.527C>G (p.Ser176Cys) c.347C>G (p.Ser116Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.85267928G= | CA2476011411 | BCL10 | c.368C= (p.Ser123=) c.401C= (p.Ser134=) n.932C= c.560C= (p.Ser187=) c.527C= (p.Ser176=) c.347C= (p.Ser116=) | |
| 1 | g.85267928G>T | CA340949450 | BCL10 | c.368C>A (p.Ser123Tyr) c.401C>A (p.Ser134Tyr) n.932C>A c.560C>A (p.Ser187Tyr) c.527C>A (p.Ser176Tyr) c.347C>A (p.Ser116Tyr) | |
| 1 | g.85267929A>C | CA340949452 | BCL10 | c.367T>G (p.Ser123Ala) c.400T>G (p.Ser134Ala) n.931T>G c.559T>G (p.Ser187Ala) c.526T>G (p.Ser176Ala) c.346T>G (p.Ser116Ala) | |
| 1 | g.85267929A>G | CA340949454 | BCL10 | c.367T>C (p.Ser123Pro) c.400T>C (p.Ser134Pro) n.931T>C c.559T>C (p.Ser187Pro) c.526T>C (p.Ser176Pro) c.346T>C (p.Ser116Pro) | |
| 1 | g.85267929A>T | CA340949456 | BCL10 | c.367T>A (p.Ser123Thr) c.400T>A (p.Ser134Thr) n.931T>A c.559T>A (p.Ser187Thr) c.526T>A (p.Ser176Thr) c.346T>A (p.Ser116Thr) | |
| 1 | g.85267930G>A | CA418704306 | BCL10 | c.366C>T (p.Leu122=) c.399C>T (p.Leu133=) n.930C>T c.558C>T (p.Leu186=) c.525C>T (p.Leu175=) c.345C>T (p.Leu115=) | |
| 1 | g.85267930G>C | CA418704307 | BCL10 | c.366C>G (p.Leu122=) c.399C>G (p.Leu133=) n.930C>G c.558C>G (p.Leu186=) c.525C>G (p.Leu175=) c.345C>G (p.Leu115=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.85267930G= | CA2476011412 | BCL10 | c.366C= (p.Leu122=) c.399C= (p.Leu133=) n.930C= c.558C= (p.Leu186=) c.525C= (p.Leu175=) c.345C= (p.Leu115=) | |
| 1 | g.85267930G>T | CA418704308 | BCL10 | c.366C>A (p.Leu122=) c.399C>A (p.Leu133=) n.930C>A c.558C>A (p.Leu186=) c.525C>A (p.Leu175=) c.345C>A (p.Leu115=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.85267931A= | CA1148224395 | BCL10 | c.365T= (p.Leu122=) c.398T= (p.Leu133=) n.929T= c.557T= (p.Leu186=) c.524T= (p.Leu175=) c.344T= (p.Leu115=) | |
| 1 | g.85267931A>C | CA340949460 | BCL10 | c.365T>G (p.Leu122Arg) c.398T>G (p.Leu133Arg) n.929T>G c.557T>G (p.Leu186Arg) c.524T>G (p.Leu175Arg) c.344T>G (p.Leu115Arg) | |
| 1 | g.85267931A>G | CA340949466 | BCL10 | c.365T>C (p.Leu122Pro) c.398T>C (p.Leu133Pro) n.929T>C c.557T>C (p.Leu186Pro) c.524T>C (p.Leu175Pro) c.344T>C (p.Leu115Pro) | |
| 1 | g.85267931A>T | CA340949465 | BCL10 | c.365T>A (p.Leu122His) c.398T>A (p.Leu133His) n.929T>A c.557T>A (p.Leu186His) c.524T>A (p.Leu175His) c.344T>A (p.Leu115His) | |
| 1 | g.85267931dup | CA212595 | BCL10 | c.365dup (p.Ser123LeufsTer7) c.398dup (p.Ser134LeufsTer7) n.929dup c.557dup (p.Ser187LeufsTer7) c.524dup (p.Ser176LeufsTer7) c.344dup (p.Ser116LeufsTer7) | ClinVar dbSNP |
| 1 | g.85267932G>A | CA340949468 | BCL10 | c.364C>T (p.Leu122Phe) c.397C>T (p.Leu133Phe) n.928C>T c.556C>T (p.Leu186Phe) c.523C>T (p.Leu175Phe) c.343C>T (p.Leu115Phe) | |
| 1 | g.85267932G>C | CA340949470 | BCL10 | c.364C>G (p.Leu122Val) c.397C>G (p.Leu133Val) n.928C>G c.556C>G (p.Leu186Val) c.523C>G (p.Leu175Val) c.343C>G (p.Leu115Val) | gnomAD v4 |
| 1 | g.85267932G>T | CA340949478 | BCL10 | c.364C>A (p.Leu122Ile) c.397C>A (p.Leu133Ile) n.928C>A c.556C>A (p.Leu186Ile) c.523C>A (p.Leu175Ile) c.343C>A (p.Leu115Ile) | |
| 1 | g.85267933G>A | CA418704309 | BCL10 | c.363C>T (p.Asn121=) c.396C>T (p.Asn132=) n.927C>T c.555C>T (p.Asn185=) c.522C>T (p.Asn174=) c.342C>T (p.Asn114=) | dbSNP |
| 1 | g.85267933G>C | CA340949481 | BCL10 | c.363C>G (p.Asn121Lys) c.396C>G (p.Asn132Lys) n.927C>G c.555C>G (p.Asn185Lys) c.522C>G (p.Asn174Lys) c.342C>G (p.Asn114Lys) |