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 |
|---|---|---|---|---|---|
| 1 | g.12192903G>A | CA338455009 | TNFRSF1B | c.592G>A (p.Ala198Thr) n.304G>A n.581G>A c.571G>A (p.Ala191Thr) c.7G>A (p.Ala3Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.12192903G>C | CA338455011 | TNFRSF1B | c.592G>C (p.Ala198Pro) n.304G>C n.581G>C c.571G>C (p.Ala191Pro) c.7G>C (p.Ala3Pro) | |
| 1 | g.12192903G= | CA1154001420 | TNFRSF1B | c.592G= (p.Ala198=) n.304G= n.581G= c.571G= (p.Ala191=) c.7G= (p.Ala3=) | |
| 1 | g.12192903G>T | CA338455012 | TNFRSF1B | c.592G>T (p.Ala198Ser) n.304G>T n.581G>T c.571G>T (p.Ala191Ser) c.7G>T (p.Ala3Ser) | |
| 1 | g.12192904C>A | CA338455015 | TNFRSF1B | c.593C>A (p.Ala198Glu) n.305C>A n.582C>A c.572C>A (p.Ala191Glu) c.8C>A (p.Ala3Glu) | |
| 1 | g.12192904C= | CA1154001421 | TNFRSF1B | c.593C= (p.Ala198=) n.305C= n.582C= c.572C= (p.Ala191=) c.8C= (p.Ala3=) | |
| 1 | g.12192904C>G | CA338455017 | TNFRSF1B | c.593C>G (p.Ala198Gly) n.305C>G n.582C>G c.572C>G (p.Ala191Gly) c.8C>G (p.Ala3Gly) | |
| 1 | g.12192904C>T | CA18022060 | TNFRSF1B | c.593C>T (p.Ala198Val) n.305C>T n.582C>T c.572C>T (p.Ala191Val) c.8C>T (p.Ala3Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.12192905A>C | CA416364730 | TNFRSF1B | c.594A>C (p.Ala198=) n.306A>C n.583A>C c.573A>C (p.Ala191=) c.9A>C (p.Ala3=) | |
| 1 | g.12192905A>G | CA416364732 | TNFRSF1B | c.594A>G (p.Ala198=) n.306A>G n.583A>G c.573A>G (p.Ala191=) c.9A>G (p.Ala3=) | |
| 1 | g.12192905A>T | CA416364731 | TNFRSF1B | c.594A>T (p.Ala198=) n.306A>T n.583A>T c.573A>T (p.Ala191=) c.9A>T (p.Ala3=) | |
| 1 | g.12192906G>A | CA338455022 | TNFRSF1B | c.595G>A (p.Val199Ile) n.307G>A n.584G>A c.574G>A (p.Val192Ile) c.10G>A (p.Val4Ile) | |
| 1 | g.12192906G>C | CA338455021 | TNFRSF1B | c.595G>C (p.Val199Leu) n.307G>C n.584G>C c.574G>C (p.Val192Leu) c.10G>C (p.Val4Leu) | |
| 1 | g.12192906G>T | CA338455019 | TNFRSF1B | c.595G>T (p.Val199Phe) n.307G>T n.584G>T c.574G>T (p.Val192Phe) c.10G>T (p.Val4Phe) | |
| 1 | g.12192907T>A | CA338455026 | TNFRSF1B | c.596T>A (p.Val199Asp) n.308T>A n.585T>A c.575T>A (p.Val192Asp) c.11T>A (p.Val4Asp) | |
| 1 | g.12192907T>C | CA338455027 | TNFRSF1B | c.596T>C (p.Val199Ala) n.308T>C n.585T>C c.575T>C (p.Val192Ala) c.11T>C (p.Val4Ala) | |
| 1 | g.12192907T>G | CA338455029 | TNFRSF1B | c.596T>G (p.Val199Gly) n.308T>G n.585T>G c.575T>G (p.Val192Gly) c.11T>G (p.Val4Gly) | |
| 1 | g.12192908C>A | CA416364733 | TNFRSF1B | c.597C>A (p.Val199=) n.309C>A n.586C>A c.576C>A (p.Val192=) c.12C>A (p.Val4=) | |
| 1 | g.12192908C>G | CA416364734 | TNFRSF1B | c.597C>G (p.Val199=) n.309C>G n.586C>G c.576C>G (p.Val192=) c.12C>G (p.Val4=) | |
| 1 | g.12192908C>T | CA416364735 | TNFRSF1B | c.597C>T (p.Val199=) n.309C>T n.586C>T c.576C>T (p.Val192=) c.12C>T (p.Val4=) | |
| 1 | g.12192909T>A | CA338455032 | TNFRSF1B | c.598T>A (p.Cys200Ser) n.310T>A n.587T>A c.577T>A (p.Cys193Ser) c.13T>A (p.Cys5Ser) | |
| 1 | g.12192909T>C | CA338455033 | TNFRSF1B | c.598T>C (p.Cys200Arg) n.310T>C n.587T>C c.577T>C (p.Cys193Arg) c.13T>C (p.Cys5Arg) | |
| 1 | g.12192909T>G | CA338455035 | TNFRSF1B | c.598T>G (p.Cys200Gly) n.310T>G n.587T>G c.577T>G (p.Cys193Gly) c.13T>G (p.Cys5Gly) | |
| 1 | g.12192910G>A | CA338455037 | TNFRSF1B | c.599G>A (p.Cys200Tyr) n.311G>A n.588G>A c.578G>A (p.Cys193Tyr) c.14G>A (p.Cys5Tyr) | |
| 1 | g.12192910G>C | CA338455038 | TNFRSF1B | c.599G>C (p.Cys200Ser) n.311G>C n.588G>C c.578G>C (p.Cys193Ser) c.14G>C (p.Cys5Ser) | |
| 1 | g.12192910G>T | CA338455039 | TNFRSF1B | c.599G>T (p.Cys200Phe) n.311G>T n.588G>T c.578G>T (p.Cys193Phe) c.14G>T (p.Cys5Phe) | |
| 1 | g.12192911C>A | CA338455040 | TNFRSF1B | c.600C>A (p.Cys200Ter) n.312C>A n.589C>A c.579C>A (p.Cys193Ter) c.15C>A (p.Cys5Ter) | |
| 1 | g.12192911C>G | CA338455042 | TNFRSF1B | c.600C>G (p.Cys200Trp) n.312C>G n.589C>G c.579C>G (p.Cys193Trp) c.15C>G (p.Cys5Trp) | |
| 1 | g.12192911C>T | CA416364736 | TNFRSF1B | c.600C>T (p.Cys200=) n.312C>T n.589C>T c.579C>T (p.Cys193=) c.15C>T (p.Cys5=) | COSMIC |
| 1 | g.12192912A>C | CA338455049 | TNFRSF1B | c.601A>C (p.Thr201Pro) n.313A>C n.590A>C c.580A>C (p.Thr194Pro) c.16A>C (p.Thr6Pro) | |
| 1 | g.12192912A>G | CA338455047 | TNFRSF1B | c.601A>G (p.Thr201Ala) n.313A>G n.590A>G c.580A>G (p.Thr194Ala) c.16A>G (p.Thr6Ala) | |
| 1 | g.12192912A>T | CA338455045 | TNFRSF1B | c.601A>T (p.Thr201Ser) n.313A>T n.590A>T c.580A>T (p.Thr194Ser) c.16A>T (p.Thr6Ser) | |
| 1 | g.12192913C>A | CA338455051 | TNFRSF1B | c.602C>A (p.Thr201Lys) n.314C>A n.591C>A c.581C>A (p.Thr194Lys) c.17C>A (p.Thr6Lys) | |
| 1 | g.12192913C= | CA1154001422 | TNFRSF1B | c.602C= (p.Thr201=) n.314C= n.591C= c.581C= (p.Thr194=) c.17C= (p.Thr6=) | |
| 1 | g.12192913C>G | CA338455053 | TNFRSF1B | c.602C>G (p.Thr201Arg) n.314C>G n.591C>G c.581C>G (p.Thr194Arg) c.17C>G (p.Thr6Arg) | ClinVar gnomAD v4 |
| 1 | g.12192913C>T | CA18022061 | TNFRSF1B | c.602C>T (p.Thr201Met) n.314C>T n.591C>T c.581C>T (p.Thr194Met) c.17C>T (p.Thr6Met) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.12192914G>A | CA416364737 | TNFRSF1B | c.603G>A (p.Thr201=) n.315G>A n.592G>A c.582G>A (p.Thr194=) c.18G>A (p.Thr6=) | dbSNP gnomAD v4 COSMIC |
| 1 | g.12192914G>C | CA416364738 | TNFRSF1B | c.603G>C (p.Thr201=) n.315G>C n.592G>C c.582G>C (p.Thr194=) c.18G>C (p.Thr6=) | |
| 1 | g.12192914G= | CA1154001423 | TNFRSF1B | c.603G= (p.Thr201=) n.315G= n.592G= c.582G= (p.Thr194=) c.18G= (p.Thr6=) | |
| 1 | g.12192914G>T | CA416364739 | TNFRSF1B | c.603G>T (p.Thr201=) n.315G>T n.592G>T c.582G>T (p.Thr194=) c.18G>T (p.Thr6=) | |
| 1 | g.12192915T>A | CA338455062 | TNFRSF1B | c.604T>A (p.Ser202Thr) n.316T>A n.593T>A c.583T>A (p.Ser195Thr) c.19T>A (p.Ser7Thr) | |
| 1 | g.12192915T>C | CA338455064 | TNFRSF1B | c.604T>C (p.Ser202Pro) n.316T>C n.593T>C c.583T>C (p.Ser195Pro) c.19T>C (p.Ser7Pro) | |
| 1 | g.12192915T>G | CA338455066 | TNFRSF1B | c.604T>G (p.Ser202Ala) n.316T>G n.593T>G c.583T>G (p.Ser195Ala) c.19T>G (p.Ser7Ala) | |
| 1 | g.12192916C>A | CA338455073 | TNFRSF1B | c.605C>A (p.Ser202Tyr) n.317C>A n.594C>A c.584C>A (p.Ser195Tyr) c.20C>A (p.Ser7Tyr) | |
| 1 | g.12192916C>G | CA338455074 | TNFRSF1B | c.605C>G (p.Ser202Cys) n.317C>G n.594C>G c.584C>G (p.Ser195Cys) c.20C>G (p.Ser7Cys) | |
| 1 | g.12192916C>T | CA338455077 | TNFRSF1B | c.605C>T (p.Ser202Phe) n.317C>T n.594C>T c.584C>T (p.Ser195Phe) c.20C>T (p.Ser7Phe) | |
| 1 | g.12192920_12192928dup | CA2643340370 | TNFRSF1B | c.609_617dup (p.Thr206_Arg207insSerProThr) n.321_329dup n.598_606dup c.588_596dup (p.Thr199_Arg200insSerProThr) c.24_32dup (p.Thr11_Arg12insSerProThr) | gnomAD v4 |
| 1 | g.12192917C>A | CA416364740 | TNFRSF1B | c.606C>A (p.Ser202=) n.318C>A n.595C>A c.585C>A (p.Ser195=) c.21C>A (p.Ser7=) | |
| 1 | g.12192917C= | CA1154001424 | TNFRSF1B | c.606C= (p.Ser202=) n.318C= n.595C= c.585C= (p.Ser195=) c.21C= (p.Ser7=) | |
| 1 | g.12192917C>G | CA416364741 | TNFRSF1B | c.606C>G (p.Ser202=) n.318C>G n.595C>G c.585C>G (p.Ser195=) c.21C>G (p.Ser7=) |