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 |
|---|---|---|---|---|---|
| 10 | g.124403019C>A | CA378635550 | OAT | c.808G>T (p.Ala270Ser) n.609G>T n.318G>T c.394G>T (p.Ala132Ser) c.487G>T (p.Ala163Ser) c.208G>T (p.Ala70Ser) | |
| 10 | g.124403019C= | CA1942337938 | OAT | c.808G= (p.Ala270=) n.609G= n.318G= c.394G= (p.Ala132=) c.487G= (p.Ala163=) c.208G= (p.Ala70=) | |
| 10 | g.124403019C>G | CA113934 | OAT | c.808G>C (p.Ala270Pro) n.609G>C n.318G>C c.394G>C (p.Ala132Pro) c.487G>C (p.Ala163Pro) c.208G>C (p.Ala70Pro) | ClinVar dbSNP gnomAD v4 |
| 10 | g.124403019C>T | CA378635552 | OAT | c.808G>A (p.Ala270Thr) n.609G>A n.318G>A c.394G>A (p.Ala132Thr) c.487G>A (p.Ala163Thr) c.208G>A (p.Ala70Thr) | |
| 10 | g.124403020C>A | CA378635554 | OAT | c.807G>T (p.Leu269Phe) n.608G>T n.317G>T c.393G>T (p.Leu131Phe) c.486G>T (p.Leu162Phe) c.207G>T (p.Leu69Phe) | |
| 10 | g.124403020C>G | CA378635556 | OAT | c.807G>C (p.Leu269Phe) n.608G>C n.317G>C c.393G>C (p.Leu131Phe) c.486G>C (p.Leu162Phe) c.207G>C (p.Leu69Phe) | |
| 10 | g.124403020C>T | CA471762836 | OAT | c.807G>A (p.Leu269=) n.608G>A n.317G>A c.393G>A (p.Leu131=) c.486G>A (p.Leu162=) c.207G>A (p.Leu69=) | ClinVar dbSNP |
| 10 | g.124403021A>C | CA378635558 | OAT | c.806T>G (p.Leu269Trp) n.607T>G n.316T>G c.392T>G (p.Leu131Trp) c.485T>G (p.Leu162Trp) c.206T>G (p.Leu69Trp) | |
| 10 | g.124403021A>G | CA378635560 | OAT | c.806T>C (p.Leu269Ser) n.607T>C n.316T>C c.392T>C (p.Leu131Ser) c.485T>C (p.Leu162Ser) c.206T>C (p.Leu69Ser) | |
| 10 | g.124403021A>T | CA378635561 | OAT | c.806T>A (p.Leu269Ter) n.607T>A n.316T>A c.392T>A (p.Leu131Ter) c.485T>A (p.Leu162Ter) c.206T>A (p.Leu69Ter) | |
| 10 | g.124403022A= | CA1942337939 | OAT | c.805T= (p.Leu269=) n.606T= n.315T= c.391T= (p.Leu131=) c.484T= (p.Leu162=) c.205T= (p.Leu69=) | |
| 10 | g.124403022A>C | CA378635563 | OAT | c.805T>G (p.Leu269Val) n.606T>G n.315T>G c.391T>G (p.Leu131Val) c.484T>G (p.Leu162Val) c.205T>G (p.Leu69Val) | |
| 10 | g.124403022A>G | CA471762837 | OAT | c.805T>C (p.Leu269=) n.606T>C n.315T>C c.391T>C (p.Leu131=) c.484T>C (p.Leu162=) c.205T>C (p.Leu69=) | dbSNP gnomAD v2 |
| 10 | g.124403022A>T | CA378635564 | OAT | c.805T>A (p.Leu269Met) n.606T>A n.315T>A c.391T>A (p.Leu131Met) c.484T>A (p.Leu162Met) c.205T>A (p.Leu69Met) | |
| 10 | g.124403023T>A | CA471762838 | OAT | c.804A>T (p.Gly268=) n.605A>T n.314A>T c.390A>T (p.Gly130=) c.483A>T (p.Gly161=) c.204A>T (p.Gly68=) | |
| 10 | g.124403023T>C | CA5733414 | OAT | c.804A>G (p.Gly268=) n.605A>G n.314A>G c.390A>G (p.Gly130=) c.483A>G (p.Gly161=) c.204A>G (p.Gly68=) | dbSNP ExAC gnomAD v2 |
| 10 | g.124403023T>G | CA471762839 | OAT | c.804A>C (p.Gly268=) n.605A>C n.314A>C c.390A>C (p.Gly130=) c.483A>C (p.Gly161=) c.204A>C (p.Gly68=) | |
| 10 | g.124403023T= | CA1942337940 | OAT | c.804A= (p.Gly268=) n.605A= n.314A= c.390A= (p.Gly130=) c.483A= (p.Gly161=) c.204A= (p.Gly68=) | |
| 10 | g.124403024C>A | CA378635567 | OAT | c.803G>T (p.Gly268Val) n.604G>T n.313G>T c.389G>T (p.Gly130Val) c.482G>T (p.Gly161Val) c.203G>T (p.Gly68Val) | |
| 10 | g.124403024C>G | CA378635568 | OAT | c.803G>C (p.Gly268Ala) n.604G>C n.313G>C c.389G>C (p.Gly130Ala) c.482G>C (p.Gly161Ala) c.203G>C (p.Gly68Ala) | |
| 10 | g.124403024C>T | CA378635569 | OAT | c.803G>A (p.Gly268Glu) n.604G>A n.313G>A c.389G>A (p.Gly130Glu) c.482G>A (p.Gly161Glu) c.203G>A (p.Gly68Glu) | |
| 10 | g.124403025C>A | CA378635570 | OAT | c.802G>T (p.Gly268Ter) n.603G>T n.312G>T c.388G>T (p.Gly130Ter) c.481G>T (p.Gly161Ter) c.202G>T (p.Gly68Ter) | |
| 10 | g.124403025C= | CA1942337941 | OAT | c.802G= (p.Gly268=) n.603G= n.312G= c.388G= (p.Gly130=) c.481G= (p.Gly161=) c.202G= (p.Gly68=) | |
| 10 | g.124403025C>G | CA378635572 | OAT | c.802G>C (p.Gly268Arg) n.603G>C n.312G>C c.388G>C (p.Gly130Arg) c.481G>C (p.Gly161Arg) c.202G>C (p.Gly68Arg) | |
| 10 | g.124403025C>T | CA378635571 | OAT | c.802G>A (p.Gly268Arg) n.603G>A n.312G>A c.388G>A (p.Gly130Arg) c.481G>A (p.Gly161Arg) c.202G>A (p.Gly68Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.124403026T>A | CA471762842 | OAT | c.801A>T (p.Thr267=) n.602A>T n.311A>T c.387A>T (p.Thr129=) c.480A>T (p.Thr160=) c.201A>T (p.Thr67=) | |
| 10 | g.124403026T>C | CA471762841 | OAT | c.801A>G (p.Thr267=) n.602A>G n.311A>G c.387A>G (p.Thr129=) c.480A>G (p.Thr160=) c.201A>G (p.Thr67=) | |
| 10 | g.124403026T>G | CA471762840 | OAT | c.801A>C (p.Thr267=) n.602A>C n.311A>C c.387A>C (p.Thr129=) c.480A>C (p.Thr160=) c.201A>C (p.Thr67=) | |
| 10 | g.124403027G>A | CA144180 | OAT | c.800C>T (p.Thr267Ile) n.601C>T n.310C>T c.386C>T (p.Thr129Ile) c.479C>T (p.Thr160Ile) c.200C>T (p.Thr67Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.124403027G>C | CA378635573 | OAT | c.800C>G (p.Thr267Arg) n.601C>G n.310C>G c.386C>G (p.Thr129Arg) c.479C>G (p.Thr160Arg) c.200C>G (p.Thr67Arg) | |
| 10 | g.124403027G= | CA1942337942 | OAT | c.800C= (p.Thr267=) n.601C= n.310C= c.386C= (p.Thr129=) c.479C= (p.Thr160=) c.200C= (p.Thr67=) | |
| 10 | g.124403027G>T | CA378635574 | OAT | c.800C>A (p.Thr267Lys) n.601C>A n.310C>A c.386C>A (p.Thr129Lys) c.479C>A (p.Thr160Lys) c.200C>A (p.Thr67Lys) | |
| 10 | g.124403028T>A | CA378635576 | OAT | c.799A>T (p.Thr267Ser) n.600A>T n.309A>T c.385A>T (p.Thr129Ser) c.478A>T (p.Thr160Ser) c.199A>T (p.Thr67Ser) | |
| 10 | g.124403028T>C | CA378635577 | OAT | c.799A>G (p.Thr267Ala) n.600A>G n.309A>G c.385A>G (p.Thr129Ala) c.478A>G (p.Thr160Ala) c.199A>G (p.Thr67Ala) | ClinVar dbSNP |
| 10 | g.124403028T>G | CA378635578 | OAT | c.799A>C (p.Thr267Pro) n.600A>C n.309A>C c.385A>C (p.Thr129Pro) c.478A>C (p.Thr160Pro) c.199A>C (p.Thr67Pro) | |
| 10 | g.124403029C>A | CA378635580 | OAT | c.798G>T (p.Gln266His) n.599G>T n.308G>T c.384G>T (p.Gln128His) c.477G>T (p.Gln159His) c.198G>T (p.Gln66His) | |
| 10 | g.124403029C>G | CA378635581 | OAT | c.798G>C (p.Gln266His) n.599G>C n.308G>C c.384G>C (p.Gln128His) c.477G>C (p.Gln159His) c.198G>C (p.Gln66His) | |
| 10 | g.124403029C>T | CA471762843 | OAT | c.798G>A (p.Gln266=) n.599G>A n.308G>A c.384G>A (p.Gln128=) c.477G>A (p.Gln159=) c.198G>A (p.Gln66=) | |
| 10 | g.124403030T>A | CA378635583 | OAT | c.797A>T (p.Gln266Leu) n.598A>T n.307A>T c.383A>T (p.Gln128Leu) c.476A>T (p.Gln159Leu) c.197A>T (p.Gln66Leu) | |
| 10 | g.124403030T>C | CA378635585 | OAT | c.797A>G (p.Gln266Arg) n.598A>G n.307A>G c.383A>G (p.Gln128Arg) c.476A>G (p.Gln159Arg) c.197A>G (p.Gln66Arg) | gnomAD v4 |
| 10 | g.124403030T>G | CA378635586 | OAT | c.797A>C (p.Gln266Pro) n.598A>C n.307A>C c.383A>C (p.Gln128Pro) c.476A>C (p.Gln159Pro) c.197A>C (p.Gln66Pro) | gnomAD v4 |
| 10 | g.124403031G>A | CA378635591 | OAT | c.796C>T (p.Gln266Ter) n.597C>T n.306C>T c.382C>T (p.Gln128Ter) c.475C>T (p.Gln159Ter) c.196C>T (p.Gln66Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.124403031G>C | CA378635589 | OAT | c.796C>G (p.Gln266Glu) n.597C>G n.306C>G c.382C>G (p.Gln128Glu) c.475C>G (p.Gln159Glu) c.196C>G (p.Gln66Glu) | gnomAD v4 |
| 10 | g.124403031G= | CA1942337943 | OAT | c.796C= (p.Gln266=) n.597C= n.306C= c.382C= (p.Gln128=) c.475C= (p.Gln159=) c.196C= (p.Gln66=) | |
| 10 | g.124403031G>T | CA378635588 | OAT | c.796C>A (p.Gln266Lys) n.597C>A n.306C>A c.382C>A (p.Gln128Lys) c.475C>A (p.Gln159Lys) c.196C>A (p.Gln66Lys) | ClinVar dbSNP |
| 10 | g.124403032T>A | CA471762844 | OAT | c.795A>T (p.Ile265=) n.596A>T n.305A>T c.381A>T (p.Ile127=) c.474A>T (p.Ile158=) c.195A>T (p.Ile65=) | |
| 10 | g.124403032T>C | CA378635593 | OAT | c.795A>G (p.Ile265Met) n.596A>G n.305A>G c.381A>G (p.Ile127Met) c.474A>G (p.Ile158Met) c.195A>G (p.Ile65Met) | |
| 10 | g.124403032T>G | CA471762845 | OAT | c.795A>C (p.Ile265=) n.596A>C n.305A>C c.381A>C (p.Ile127=) c.474A>C (p.Ile158=) c.195A>C (p.Ile65=) | |
| 10 | g.124403033A= | CA1942337944 | OAT | c.794T= (p.Ile265=) n.595T= n.304T= c.380T= (p.Ile127=) c.473T= (p.Ile158=) c.194T= (p.Ile65=) | |
| 10 | g.124403033A>C | CA378635595 | OAT | c.794T>G (p.Ile265Arg) n.595T>G n.304T>G c.380T>G (p.Ile127Arg) c.473T>G (p.Ile158Arg) c.194T>G (p.Ile65Arg) |