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 |
|---|---|---|---|---|---|
| 11 | g.2169766C>A | CA379112345 | TH | c.196G>T (p.Asp66Tyr) c.91-71G>T (n.91-71G>T) c.103-71G>T (n.103-71G>T) c.277G>T (p.Asp93Tyr) c.289G>T (p.Asp97Tyr) c.208G>T (p.Asp70Tyr) | |
| 11 | g.2169766C= | CA1948009647 | TH | c.196G= (p.Asp66=) c.91-71G= (n.91-71G=) c.103-71G= (n.103-71G=) c.277G= (p.Asp93=) c.289G= (p.Asp97=) c.208G= (p.Asp70=) | |
| 11 | g.2169766C>G | CA379112346 | TH | c.196G>C (p.Asp66His) c.91-71G>C (n.91-71G>C) c.103-71G>C (n.103-71G>C) c.277G>C (p.Asp93His) c.289G>C (p.Asp97His) c.208G>C (p.Asp70His) | |
| 11 | g.2169766C>T | CA5818767 | TH | c.196G>A (p.Asp66Asn) c.91-71G>A (n.91-71G>A) c.103-71G>A (n.103-71G>A) c.277G>A (p.Asp93Asn) c.289G>A (p.Asp97Asn) c.208G>A (p.Asp70Asn) | dbSNP ExAC gnomAD v2 |
| 11 | g.2169769del | CA2611979891 | TH | c.196del (p.Asp66ThrfsTer17) c.91-71del (n.91-71del) c.103-71del (n.103-71del) c.277del (p.Asp93ThrfsTer17) c.289del (p.Asp97ThrfsTer17) c.208del (p.Asp70ThrfsTer17) | gnomAD v4 |
| 11 | g.2169767C>A | CA472018844 | TH | c.195G>T (p.Gly65=) c.91-72G>T (n.91-72G>T) c.103-72G>T (n.103-72G>T) c.276G>T (p.Gly92=) c.288G>T (p.Gly96=) c.207G>T (p.Gly69=) | |
| 11 | g.2169767C= | CA1948009653 | TH | c.195G= (p.Gly65=) c.91-72G= (n.91-72G=) c.103-72G= (n.103-72G=) c.276G= (p.Gly92=) c.288G= (p.Gly96=) c.207G= (p.Gly69=) | |
| 11 | g.2169767C>G | CA472018845 | TH | c.195G>C (p.Gly65=) c.91-72G>C (n.91-72G>C) c.103-72G>C (n.103-72G>C) c.276G>C (p.Gly92=) c.288G>C (p.Gly96=) c.207G>C (p.Gly69=) | |
| 11 | g.2169767C>T | CA5818768 | TH | c.195G>A (p.Gly65=) c.91-72G>A (n.91-72G>A) c.103-72G>A (n.103-72G>A) c.276G>A (p.Gly92=) c.288G>A (p.Gly96=) c.207G>A (p.Gly69=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169768C>A | CA379112347 | TH | c.194G>T (p.Gly65Val) c.91-73G>T (n.91-73G>T) c.103-73G>T (n.103-73G>T) c.275G>T (p.Gly92Val) c.287G>T (p.Gly96Val) c.206G>T (p.Gly69Val) | |
| 11 | g.2169768C>G | CA379112349 | TH | c.194G>C (p.Gly65Ala) c.91-73G>C (n.91-73G>C) c.103-73G>C (n.103-73G>C) c.275G>C (p.Gly92Ala) c.287G>C (p.Gly96Ala) c.206G>C (p.Gly69Ala) | |
| 11 | g.2169768C>T | CA379112348 | TH | c.194G>A (p.Gly65Glu) c.91-73G>A (n.91-73G>A) c.103-73G>A (n.103-73G>A) c.275G>A (p.Gly92Glu) c.287G>A (p.Gly96Glu) c.206G>A (p.Gly69Glu) | |
| 11 | g.2169769C>A | CA379112350 | TH | c.193G>T (p.Gly65Trp) c.91-74G>T (n.91-74G>T) c.103-74G>T (n.103-74G>T) c.274G>T (p.Gly92Trp) c.286G>T (p.Gly96Trp) c.205G>T (p.Gly69Trp) | gnomAD v4 |
| 11 | g.2169769C= | CA1948009658 | TH | c.193G= (p.Gly65=) c.91-74G= (n.91-74G=) c.103-74G= (n.103-74G=) c.274G= (p.Gly92=) c.286G= (p.Gly96=) c.205G= (p.Gly69=) | |
| 11 | g.2169769C>G | CA379112351 | TH | c.193G>C (p.Gly65Arg) c.91-74G>C (n.91-74G>C) c.103-74G>C (n.103-74G>C) c.274G>C (p.Gly92Arg) c.286G>C (p.Gly96Arg) c.205G>C (p.Gly69Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2169769C>T | CA16613285 | TH | c.193G>A (p.Gly65Arg) c.91-74G>A (n.91-74G>A) c.103-74G>A (n.103-74G>A) c.274G>A (p.Gly92Arg) c.286G>A (p.Gly96Arg) c.205G>A (p.Gly69Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169769_2169770delinsCG | CA1948009661 | TH | c.192_193delinsCG (p.Pro64=) c.91-75_91-74delinsCG (n.91-75_91-74delinsCG) c.103-75_103-74delinsCG (n.103-75_103-74delinsCG) c.273_274delinsCG (p.Pro91=) c.285_286delinsCG (p.Pro95=) c.204_205delinsCG (p.Pro68=) | |
| 11 | g.2169770G>A | CA5818769 | TH | c.192C>T (p.Pro64=) c.91-75C>T (n.91-75C>T) c.103-75C>T (n.103-75C>T) c.273C>T (p.Pro91=) c.285C>T (p.Pro95=) c.204C>T (p.Pro68=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169770G>C | CA472018846 | TH | c.192C>G (p.Pro64=) c.91-75C>G (n.91-75C>G) c.103-75C>G (n.103-75C>G) c.273C>G (p.Pro91=) c.285C>G (p.Pro95=) c.204C>G (p.Pro68=) | gnomAD v4 |
| 11 | g.2169770G= | CA1948009669 | TH | c.192C= (p.Pro64=) c.91-75C= (n.91-75C=) c.103-75C= (n.103-75C=) c.273C= (p.Pro91=) c.285C= (p.Pro95=) c.204C= (p.Pro68=) | |
| 11 | g.2169770G>T | CA472018847 | TH | c.192C>A (p.Pro64=) c.91-75C>A (n.91-75C>A) c.103-75C>A (n.103-75C>A) c.273C>A (p.Pro91=) c.285C>A (p.Pro95=) c.204C>A (p.Pro68=) | dbSNP |
| 11 | g.2169772del | CA934420210 | TH | c.192del (p.Asp66ThrfsTer17) c.91-75del (n.91-75del) c.103-75del (n.103-75del) c.273del (p.Asp93ThrfsTer17) c.285del (p.Asp97ThrfsTer17) c.204del (p.Asp70ThrfsTer17) | ClinVar dbSNP |
| 11 | g.2169771G>A | CA379112352 | TH | c.191C>T (p.Pro64Leu) c.91-76C>T (n.91-76C>T) c.103-76C>T (n.103-76C>T) c.272C>T (p.Pro91Leu) c.284C>T (p.Pro95Leu) c.203C>T (p.Pro68Leu) | |
| 11 | g.2169771G>C | CA379112354 | TH | c.191C>G (p.Pro64Arg) c.91-76C>G (n.91-76C>G) c.103-76C>G (n.103-76C>G) c.272C>G (p.Pro91Arg) c.284C>G (p.Pro95Arg) c.203C>G (p.Pro68Arg) | |
| 11 | g.2169771G>T | CA379112353 | TH | c.191C>A (p.Pro64His) c.91-76C>A (n.91-76C>A) c.103-76C>A (n.103-76C>A) c.272C>A (p.Pro91His) c.284C>A (p.Pro95His) c.203C>A (p.Pro68His) | |
| 11 | g.2169772G>A | CA5818770 | TH | c.190C>T (p.Pro64Ser) c.91-77C>T (n.91-77C>T) c.103-77C>T (n.103-77C>T) c.271C>T (p.Pro91Ser) c.283C>T (p.Pro95Ser) c.202C>T (p.Pro68Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2169772G>C | CA379112355 | TH | c.190C>G (p.Pro64Ala) c.91-77C>G (n.91-77C>G) c.103-77C>G (n.103-77C>G) c.271C>G (p.Pro91Ala) c.283C>G (p.Pro95Ala) c.202C>G (p.Pro68Ala) | |
| 11 | g.2169772G= | CA1948009672 | TH | c.190C= (p.Pro64=) c.91-77C= (n.91-77C=) c.103-77C= (n.103-77C=) c.271C= (p.Pro91=) c.283C= (p.Pro95=) c.202C= (p.Pro68=) | |
| 11 | g.2169772G>T | CA379112356 | TH | c.190C>A (p.Pro64Thr) c.91-77C>A (n.91-77C>A) c.103-77C>A (n.103-77C>A) c.271C>A (p.Pro91Thr) c.283C>A (p.Pro95Thr) c.202C>A (p.Pro68Thr) | |
| 11 | g.2169773C>A | CA379112357 | TH | c.189G>T (p.Glu63Asp) c.91-78G>T (n.91-78G>T) c.103-78G>T (n.103-78G>T) c.270G>T (p.Glu90Asp) c.282G>T (p.Glu94Asp) c.201G>T (p.Glu67Asp) | |
| 11 | g.2169773C>G | CA379112358 | TH | c.189G>C (p.Glu63Asp) c.91-78G>C (n.91-78G>C) c.103-78G>C (n.103-78G>C) c.270G>C (p.Glu90Asp) c.282G>C (p.Glu94Asp) c.201G>C (p.Glu67Asp) | |
| 11 | g.2169773C>T | CA472018848 | TH | c.189G>A (p.Glu63=) c.91-78G>A (n.91-78G>A) c.103-78G>A (n.103-78G>A) c.270G>A (p.Glu90=) c.282G>A (p.Glu94=) c.201G>A (p.Glu67=) | |
| 11 | g.2169774T>A | CA379112359 | TH | c.188A>T (p.Glu63Val) c.91-79A>T (n.91-79A>T) c.103-79A>T (n.103-79A>T) c.269A>T (p.Glu90Val) c.281A>T (p.Glu94Val) c.200A>T (p.Glu67Val) | |
| 11 | g.2169774T>C | CA379112360 | TH | c.188A>G (p.Glu63Gly) c.91-79A>G (n.91-79A>G) c.103-79A>G (n.103-79A>G) c.269A>G (p.Glu90Gly) c.281A>G (p.Glu94Gly) c.200A>G (p.Glu67Gly) | |
| 11 | g.2169774T>G | CA379112361 | TH | c.188A>C (p.Glu63Ala) c.91-79A>C (n.91-79A>C) c.103-79A>C (n.103-79A>C) c.269A>C (p.Glu90Ala) c.281A>C (p.Glu94Ala) c.200A>C (p.Glu67Ala) | |
| 11 | g.2169775C>A | CA379112362 | TH | c.187G>T (p.Glu63Ter) c.91-80G>T (n.91-80G>T) c.103-80G>T (n.103-80G>T) c.268G>T (p.Glu90Ter) c.280G>T (p.Glu94Ter) c.199G>T (p.Glu67Ter) | |
| 11 | g.2169775C>G | CA379112364 | TH | c.187G>C (p.Glu63Gln) c.91-80G>C (n.91-80G>C) c.103-80G>C (n.103-80G>C) c.268G>C (p.Glu90Gln) c.280G>C (p.Glu94Gln) c.199G>C (p.Glu67Gln) | |
| 11 | g.2169775C>T | CA379112363 | TH | c.187G>A (p.Glu63Lys) c.91-80G>A (n.91-80G>A) c.103-80G>A (n.103-80G>A) c.268G>A (p.Glu90Lys) c.280G>A (p.Glu94Lys) c.199G>A (p.Glu67Lys) | |
| 11 | g.2169776C>A | CA472018849 | TH | c.186G>T (p.Ser62=) c.91-81G>T (n.91-81G>T) c.103-81G>T (n.103-81G>T) c.267G>T (p.Ser89=) c.279G>T (p.Ser93=) c.198G>T (p.Ser66=) | |
| 11 | g.2169776C= | CA1948009676 | TH | c.186G= (p.Ser62=) c.91-81G= (n.91-81G=) c.103-81G= (n.103-81G=) c.267G= (p.Ser89=) c.279G= (p.Ser93=) c.198G= (p.Ser66=) | |
| 11 | g.2169776C>G | CA472018850 | TH | c.186G>C (p.Ser62=) c.91-81G>C (n.91-81G>C) c.103-81G>C (n.103-81G>C) c.267G>C (p.Ser89=) c.279G>C (p.Ser93=) c.198G>C (p.Ser66=) | |
| 11 | g.2169776C>T | CA5818771 | TH | c.186G>A (p.Ser62=) c.91-81G>A (n.91-81G>A) c.103-81G>A (n.103-81G>A) c.267G>A (p.Ser89=) c.279G>A (p.Ser93=) c.198G>A (p.Ser66=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169777G>A | CA5818772 | TH | c.185C>T (p.Ser62Leu) c.91-82C>T (n.91-82C>T) c.103-82C>T (n.103-82C>T) c.266C>T (p.Ser89Leu) c.278C>T (p.Ser93Leu) c.197C>T (p.Ser66Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169777G>C | CA5818773 | TH | c.185C>G (p.Ser62Trp) c.91-82C>G (n.91-82C>G) c.103-82C>G (n.103-82C>G) c.266C>G (p.Ser89Trp) c.278C>G (p.Ser93Trp) c.197C>G (p.Ser66Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2169777G= | CA1948009679 | TH | c.185C= (p.Ser62=) c.91-82C= (n.91-82C=) c.103-82C= (n.103-82C=) c.266C= (p.Ser89=) c.278C= (p.Ser93=) c.197C= (p.Ser66=) | |
| 11 | g.2169777G>T | CA379112365 | TH | c.185C>A (p.Ser62Ter) c.91-82C>A (n.91-82C>A) c.103-82C>A (n.103-82C>A) c.266C>A (p.Ser89Ter) c.278C>A (p.Ser93Ter) c.197C>A (p.Ser66Ter) | |
| 11 | g.2169778A>C | CA379112366 | TH | c.184T>G (p.Ser62Ala) c.91-83T>G (n.91-83T>G) c.103-83T>G (n.103-83T>G) c.265T>G (p.Ser89Ala) c.277T>G (p.Ser93Ala) c.196T>G (p.Ser66Ala) | |
| 11 | g.2169778A>G | CA379112368 | TH | c.184T>C (p.Ser62Pro) c.91-83T>C (n.91-83T>C) c.103-83T>C (n.103-83T>C) c.265T>C (p.Ser89Pro) c.277T>C (p.Ser93Pro) c.196T>C (p.Ser66Pro) | |
| 11 | g.2169778A>T | CA379112367 | TH | c.184T>A (p.Ser62Thr) c.91-83T>A (n.91-83T>A) c.103-83T>A (n.103-83T>A) c.265T>A (p.Ser89Thr) c.277T>A (p.Ser93Thr) c.196T>A (p.Ser66Thr) | |
| 11 | g.2169779G>A | CA216227719 | TH | c.183C>T (p.Pro61=) c.91-84C>T (n.91-84C>T) c.103-84C>T (n.103-84C>T) c.264C>T (p.Pro88=) c.276C>T (p.Pro92=) c.195C>T (p.Pro65=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |