WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.67181432_67181446delinsGAGCTGACACGGAGA | CA2184414937 | SMAD3 | c.265_279delinsGAGCTGACACGGAGA (p.Glu89=) c.535_549delinsGAGCTGACACGGAGA (p.Glu179=) c.850_864delinsGAGCTGACACGGAGA (p.Glu284=) n.553_567delinsGAGCTGACACGGAGA c.718_732delinsGAGCTGACACGGAGA (p.Glu240=) n.282+6848_282+6862delinsGAGCTGACACGGAGA c.703_717delinsGAGCTGACACGGAGA (p.Glu235=) | |
| 15 | g.67181433_67181446del | CA891843528 | SMAD3 | c.266_279del (p.Glu89AlafsTer22) c.536_549del (p.Glu179AlafsTer22) c.851_864del (p.Glu284AlafsTer22) n.554_567del c.719_732del (p.Glu240AlafsTer22) c.266_279del (p.Glu89AlafsTer?) c.536_549del (p.Glu179AlafsTer27) n.282+6849_282+6862del c.704_717del (p.Glu235AlafsTer22) | ClinVar dbSNP |
| 15 | g.67181442_67181449del | CA2629118804 | SMAD3 | c.275_282del (p.Arg92HisfsTer21) c.545_552del (p.Arg182HisfsTer21) c.860_867del (p.Arg287HisfsTer21) n.563_570del c.728_735del (p.Arg243HisfsTer21) c.275_282del (p.Arg92HisfsTer?) c.545_552del (p.Arg182HisfsTer26) n.282+6858_282+6865del c.713_720del (p.Arg238HisfsTer21) | gnomAD v4 |
| 15 | g.67181444_67181454dup | CA658820896 | SMAD3 | c.277_286+1dup c.547_556+1dup c.862_871+1dup n.565_574+1dup c.730_739+1dup n.282+6860_282+6870dup c.715_724+1dup | |
| 15 | g.67181442G>A | CA020135 | SMAD3 | c.275G>A (p.Arg92Gln) c.545G>A (p.Arg182Gln) c.860G>A (p.Arg287Gln) n.563G>A c.728G>A (p.Arg243Gln) n.282+6858G>A c.713G>A (p.Arg238Gln) | ClinVar dbSNP gnomAD v4 |
| 15 | g.67181442G>C | CA392956410 | SMAD3 | c.275G>C (p.Arg92Pro) c.545G>C (p.Arg182Pro) c.860G>C (p.Arg287Pro) n.563G>C c.728G>C (p.Arg243Pro) n.282+6858G>C c.713G>C (p.Arg238Pro) | COSMIC COSMIC |
| 15 | g.67181442G= | CA2184414967 | SMAD3 | c.275G= (p.Arg92=) c.545G= (p.Arg182=) c.860G= (p.Arg287=) n.563G= c.728G= (p.Arg243=) n.282+6858G= c.713G= (p.Arg238=) | |
| 15 | g.67181442G>T | CA392956411 | SMAD3 | c.275G>T (p.Arg92Leu) c.545G>T (p.Arg182Leu) c.860G>T (p.Arg287Leu) n.563G>T c.728G>T (p.Arg243Leu) n.282+6858G>T c.713G>T (p.Arg238Leu) | |
| 15 | g.67181443del | CA658820895 | SMAD3 | c.276del (p.Arg93AspfsTer?) c.546del (p.Arg183AspfsTer?) c.861del (p.Arg288AspfsTer?) n.564del c.729del (p.Arg244AspfsTer?) c.546del (p.Arg183AspfsTer7) n.282+6859del c.714del (p.Arg239AspfsTer?) | |
| 15 | g.67181442_67181444delinsGGA | CA2184414969 | SMAD3 | c.275_277delinsGGA (p.Arg92=) c.545_547delinsGGA (p.Arg182=) c.860_862delinsGGA (p.Arg287=) n.563_565delinsGGA c.728_730delinsGGA (p.Arg243=) n.282+6858_282+6860delinsGGA c.713_715delinsGGA (p.Arg238=) | |
| 15 | g.67181444_67181461del | CA2695220927 | SMAD3 | c.277_286+8del c.547_556+8del c.862_871+8del n.565_574+8del c.730_739+8del n.282+6860_282+6877del c.715_724+8del | |
| 15 | g.67181443G>A | CA490915821 | SMAD3 | c.276G>A (p.Arg92=) c.546G>A (p.Arg182=) c.861G>A (p.Arg287=) n.564G>A c.729G>A (p.Arg243=) n.282+6859G>A c.714G>A (p.Arg238=) | dbSNP |
| 15 | g.67181443G>C | CA490915823 | SMAD3 | c.276G>C (p.Arg92=) c.546G>C (p.Arg182=) c.861G>C (p.Arg287=) n.564G>C c.729G>C (p.Arg243=) n.282+6859G>C c.714G>C (p.Arg238=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.67181443G= | CA2184414974 | SMAD3 | c.276G= (p.Arg92=) c.546G= (p.Arg182=) c.861G= (p.Arg287=) n.564G= c.729G= (p.Arg243=) n.282+6859G= c.714G= (p.Arg238=) | |
| 15 | g.67181443G>T | CA490915826 | SMAD3 | c.276G>T (p.Arg92=) c.546G>T (p.Arg182=) c.861G>T (p.Arg287=) n.564G>T c.729G>T (p.Arg243=) n.282+6859G>T c.714G>T (p.Arg238=) | gnomAD v4 |
| 15 | g.67181445_67181446del | CA715080991 | SMAD3 | c.278_279del (p.Arg93ThrfsTer22) c.548_549del (p.Arg183ThrfsTer22) c.863_864del (p.Arg288ThrfsTer22) n.566_567del c.731_732del (p.Arg244ThrfsTer22) c.278_279del (p.Arg93ThrfsTer?) c.548_549del (p.Arg183ThrfsTer27) n.282+6861_282+6862del c.716_717del (p.Arg239ThrfsTer22) | dbSNP |
| 15 | g.67181444A>C | CA490915832 | SMAD3 | c.277A>C (p.Arg93=) c.547A>C (p.Arg183=) c.862A>C (p.Arg288=) n.565A>C c.730A>C (p.Arg244=) n.282+6860A>C c.715A>C (p.Arg239=) | |
| 15 | g.67181444A>G | CA392956412 | SMAD3 | c.277A>G (p.Arg93Gly) c.547A>G (p.Arg183Gly) c.862A>G (p.Arg288Gly) n.565A>G c.730A>G (p.Arg244Gly) n.282+6860A>G c.715A>G (p.Arg239Gly) | |
| 15 | g.67181444A>T | CA392956413 | SMAD3 | c.277A>T (p.Arg93Ter) c.547A>T (p.Arg183Ter) c.862A>T (p.Arg288Ter) n.565A>T c.730A>T (p.Arg244Ter) n.282+6860A>T c.715A>T (p.Arg239Ter) | |
| 15 | g.67181444_67181451dup | CA2499223058 | SMAD3 | c.277_284dup (p.Gly96AspfsTer?) c.547_554dup (p.Gly186AspfsTer?) c.862_869dup (p.Gly291AspfsTer?) n.565_572dup c.730_737dup (p.Gly247AspfsTer?) c.547_554dup (p.Gly186AspfsTer7) n.282+6860_282+6867dup c.715_722dup (p.Gly242AspfsTer?) | ClinVar dbSNP |
| 15 | g.67181445G>A | CA392956414 | SMAD3 | c.278G>A (p.Arg93Lys) c.548G>A (p.Arg183Lys) c.863G>A (p.Arg288Lys) n.566G>A c.731G>A (p.Arg244Lys) n.282+6861G>A c.716G>A (p.Arg239Lys) | |
| 15 | g.67181445G>C | CA392956415 | SMAD3 | c.278G>C (p.Arg93Thr) c.548G>C (p.Arg183Thr) c.863G>C (p.Arg288Thr) n.566G>C c.731G>C (p.Arg244Thr) n.282+6861G>C c.716G>C (p.Arg239Thr) | |
| 15 | g.67181445G>T | CA392956416 | SMAD3 | c.278G>T (p.Arg93Ile) c.548G>T (p.Arg183Ile) c.863G>T (p.Arg288Ile) n.566G>T c.731G>T (p.Arg244Ile) n.282+6861G>T c.716G>T (p.Arg239Ile) | |
| 15 | g.67181446A>C | CA392956417 | SMAD3 | c.279A>C (p.Arg93Ser) c.549A>C (p.Arg183Ser) c.864A>C (p.Arg288Ser) n.567A>C c.732A>C (p.Arg244Ser) n.282+6862A>C c.717A>C (p.Arg239Ser) | |
| 15 | g.67181446A>G | CA490915841 | SMAD3 | c.279A>G (p.Arg93=) c.549A>G (p.Arg183=) c.864A>G (p.Arg288=) n.567A>G c.732A>G (p.Arg244=) n.282+6862A>G c.717A>G (p.Arg239=) | |
| 15 | g.67181446A>T | CA392956418 | SMAD3 | c.279A>T (p.Arg93Ser) c.549A>T (p.Arg183Ser) c.864A>T (p.Arg288Ser) n.567A>T c.732A>T (p.Arg244Ser) n.282+6862A>T c.717A>T (p.Arg239Ser) | |
| 15 | g.67181446_67181448dup | CA2580089890 | SMAD3 | c.279_281dup (p.Arg93_His94insGln) c.549_551dup (p.Arg183_His184insGln) c.864_866dup (p.Arg288_His289insGln) n.567_569dup c.732_734dup (p.Arg244_His245insGln) n.282+6862_282+6864dup c.717_719dup (p.Arg239_His240insGln) | ClinVar |
| 15 | g.67181449_67181450dup | CA2739269520 | SMAD3 | c.282_283dup (p.Ile95ThrfsTer?) c.552_553dup (p.Ile185ThrfsTer?) c.867_868dup (p.Ile290ThrfsTer?) n.570_571dup c.735_736dup (p.Ile246ThrfsTer?) c.552_553dup (p.Ile185ThrfsTer6) n.282+6865_282+6866dup c.720_721dup (p.Ile241ThrfsTer?) | ClinVar |
| 15 | g.67181447C>A | CA392956419 | SMAD3 | c.280C>A (p.His94Asn) c.550C>A (p.His184Asn) c.865C>A (p.His289Asn) n.568C>A c.733C>A (p.His245Asn) n.282+6863C>A c.718C>A (p.His240Asn) | |
| 15 | g.67181447C>G | CA392956421 | SMAD3 | c.280C>G (p.His94Asp) c.550C>G (p.His184Asp) c.865C>G (p.His289Asp) n.568C>G c.733C>G (p.His245Asp) n.282+6863C>G c.718C>G (p.His240Asp) | |
| 15 | g.67181447C>T | CA392956420 | SMAD3 | c.280C>T (p.His94Tyr) c.550C>T (p.His184Tyr) c.865C>T (p.His289Tyr) n.568C>T c.733C>T (p.His245Tyr) n.282+6863C>T c.718C>T (p.His240Tyr) | gnomAD v4 |
| 15 | g.67181448A>C | CA392956422 | SMAD3 | c.281A>C (p.His94Pro) c.551A>C (p.His184Pro) c.866A>C (p.His289Pro) n.569A>C c.734A>C (p.His245Pro) n.282+6864A>C c.719A>C (p.His240Pro) | |
| 15 | g.67181448A>G | CA392956423 | SMAD3 | c.281A>G (p.His94Arg) c.551A>G (p.His184Arg) c.866A>G (p.His289Arg) n.569A>G c.734A>G (p.His245Arg) n.282+6864A>G c.719A>G (p.His240Arg) | |
| 15 | g.67181448A>T | CA392956424 | SMAD3 | c.281A>T (p.His94Leu) c.551A>T (p.His184Leu) c.866A>T (p.His289Leu) n.569A>T c.734A>T (p.His245Leu) n.282+6864A>T c.719A>T (p.His240Leu) | |
| 15 | g.67181449C>A | CA392956425 | SMAD3 | c.282C>A (p.His94Gln) c.552C>A (p.His184Gln) c.867C>A (p.His289Gln) n.570C>A c.735C>A (p.His245Gln) n.282+6865C>A c.720C>A (p.His240Gln) | |
| 15 | g.67181449C>G | CA392956426 | SMAD3 | c.282C>G (p.His94Gln) c.552C>G (p.His184Gln) c.867C>G (p.His289Gln) n.570C>G c.735C>G (p.His245Gln) n.282+6865C>G c.720C>G (p.His240Gln) | gnomAD v4 |
| 15 | g.67181449C>T | CA490915862 | SMAD3 | c.282C>T (p.His94=) c.552C>T (p.His184=) c.867C>T (p.His289=) n.570C>T c.735C>T (p.His245=) n.282+6865C>T c.720C>T (p.His240=) | |
| 15 | g.67181450A= | CA2184414976 | SMAD3 | c.283A= (p.Ile95=) c.553A= (p.Ile185=) c.868A= (p.Ile290=) n.571A= c.736A= (p.Ile246=) n.282+6866A= c.721A= (p.Ile241=) | |
| 15 | g.67181450A>C | CA392956427 | SMAD3 | c.283A>C (p.Ile95Leu) c.553A>C (p.Ile185Leu) c.868A>C (p.Ile290Leu) n.571A>C c.736A>C (p.Ile246Leu) n.282+6866A>C c.721A>C (p.Ile241Leu) | |
| 15 | g.67181450A>G | CA062719 | SMAD3 | c.283A>G (p.Ile95Val) c.553A>G (p.Ile185Val) c.868A>G (p.Ile290Val) n.571A>G c.736A>G (p.Ile246Val) n.282+6866A>G c.721A>G (p.Ile241Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.67181450A>T | CA392956428 | SMAD3 | c.283A>T (p.Ile95Phe) c.553A>T (p.Ile185Phe) c.868A>T (p.Ile290Phe) n.571A>T c.736A>T (p.Ile246Phe) n.282+6866A>T c.721A>T (p.Ile241Phe) | dbSNP |
| 15 | g.67181451T>A | CA392956429 | SMAD3 | c.284T>A (p.Ile95Asn) c.554T>A (p.Ile185Asn) c.869T>A (p.Ile290Asn) n.572T>A c.737T>A (p.Ile246Asn) n.282+6867T>A c.722T>A (p.Ile241Asn) | |
| 15 | g.67181451T>C | CA392956430 | SMAD3 | c.284T>C (p.Ile95Thr) c.554T>C (p.Ile185Thr) c.869T>C (p.Ile290Thr) n.572T>C c.737T>C (p.Ile246Thr) n.282+6867T>C c.722T>C (p.Ile241Thr) | |
| 15 | g.67181451T>G | CA392956431 | SMAD3 | c.284T>G (p.Ile95Ser) c.554T>G (p.Ile185Ser) c.869T>G (p.Ile290Ser) n.572T>G c.737T>G (p.Ile246Ser) n.282+6867T>G c.722T>G (p.Ile241Ser) | |
| 15 | g.67181452C>A | CA490915871 | SMAD3 | c.285C>A (p.Ile95=) c.555C>A (p.Ile185=) c.870C>A (p.Ile290=) n.573C>A c.738C>A (p.Ile246=) n.282+6868C>A c.723C>A (p.Ile241=) | gnomAD v4 |
| 15 | g.67181452C= | CA2184414979 | SMAD3 | c.285C= (p.Ile95=) c.555C= (p.Ile185=) c.870C= (p.Ile290=) n.573C= c.738C= (p.Ile246=) n.282+6868C= c.723C= (p.Ile241=) | |
| 15 | g.67181452C>G | CA392956432 | SMAD3 | c.285C>G (p.Ile95Met) c.555C>G (p.Ile185Met) c.870C>G (p.Ile290Met) n.573C>G c.738C>G (p.Ile246Met) n.282+6868C>G c.723C>G (p.Ile241Met) | |
| 15 | g.67181452C>T | CA020145 | SMAD3 | c.285C>T (p.Ile95=) c.555C>T (p.Ile185=) c.870C>T (p.Ile290=) n.573C>T c.738C>T (p.Ile246=) n.282+6868C>T c.723C>T (p.Ile241=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.67181453G>A | CA020150 | SMAD3 | c.286G>A (p.Gly96Arg) c.556G>A (p.Gly186Arg) c.871G>A (p.Gly291Arg) n.574G>A c.739G>A (p.Gly247Arg) n.282+6869G>A c.724G>A (p.Gly242Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.67181453G>C | CA392956434 | SMAD3 | c.286G>C (p.Gly96Arg) c.556G>C (p.Gly186Arg) c.871G>C (p.Gly291Arg) n.574G>C c.739G>C (p.Gly247Arg) n.282+6869G>C c.724G>C (p.Gly242Arg) | ClinVar |