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.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=) | |
| 1 | g.12192917C>T | CA416364742 | TNFRSF1B | c.606C>T (p.Ser202=) n.318C>T n.595C>T c.585C>T (p.Ser195=) c.21C>T (p.Ser7=) | dbSNP |
| 1 | g.12192918A>C | CA338455079 | TNFRSF1B | c.607A>C (p.Thr203Pro) n.319A>C n.596A>C c.586A>C (p.Thr196Pro) c.22A>C (p.Thr8Pro) | |
| 1 | g.12192918A>G | CA338455084 | TNFRSF1B | c.607A>G (p.Thr203Ala) n.319A>G n.596A>G c.586A>G (p.Thr196Ala) c.22A>G (p.Thr8Ala) | |
| 1 | g.12192918A>T | CA338455086 | TNFRSF1B | c.607A>T (p.Thr203Ser) n.319A>T n.596A>T c.586A>T (p.Thr196Ser) c.22A>T (p.Thr8Ser) | |
| 1 | g.12192919C>A | CA338455100 | TNFRSF1B | c.608C>A (p.Thr203Lys) n.320C>A n.597C>A c.587C>A (p.Thr196Lys) c.23C>A (p.Thr8Lys) | |
| 1 | g.12192919C= | CA1143379683 | TNFRSF1B | c.608C= (p.Thr203=) n.320C= n.597C= c.587C= (p.Thr196=) c.23C= (p.Thr8=) | |
| 1 | g.12192919C>G | CA338455098 | TNFRSF1B | c.608C>G (p.Thr203Arg) n.320C>G n.597C>G c.587C>G (p.Thr196Arg) c.23C>G (p.Thr8Arg) | |
| 1 | g.12192919C>T | CA600832 | TNFRSF1B | c.608C>T (p.Thr203Met) n.320C>T n.597C>T c.587C>T (p.Thr196Met) c.23C>T (p.Thr8Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.12192920G>A | CA600833 | TNFRSF1B | c.609G>A (p.Thr203=) n.321G>A n.598G>A c.588G>A (p.Thr196=) c.24G>A (p.Thr8=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.12192920G>C | CA416364743 | TNFRSF1B | c.609G>C (p.Thr203=) n.321G>C n.598G>C c.588G>C (p.Thr196=) c.24G>C (p.Thr8=) | |
| 1 | g.12192920G= | CA1154001425 | TNFRSF1B | c.609G= (p.Thr203=) n.321G= n.598G= c.588G= (p.Thr196=) c.24G= (p.Thr8=) | |
| 1 | g.12192920G>T | CA416364744 | TNFRSF1B | c.609G>T (p.Thr203=) n.321G>T n.598G>T c.588G>T (p.Thr196=) c.24G>T (p.Thr8=) | COSMIC |
| 1 | g.12192921T>A | CA338455113 | TNFRSF1B | c.610T>A (p.Ser204Thr) n.322T>A n.599T>A c.589T>A (p.Ser197Thr) c.25T>A (p.Ser9Thr) | |
| 1 | g.12192921T>C | CA338455107 | TNFRSF1B | c.610T>C (p.Ser204Pro) n.322T>C n.599T>C c.589T>C (p.Ser197Pro) c.25T>C (p.Ser9Pro) | dbSNP gnomAD v2 |
| 1 | g.12192921T>G | CA338455109 | TNFRSF1B | c.610T>G (p.Ser204Ala) n.322T>G n.599T>G c.589T>G (p.Ser197Ala) c.25T>G (p.Ser9Ala) | |
| 1 | g.12192921T= | CA1154001426 | TNFRSF1B | c.610T= (p.Ser204=) n.322T= n.599T= c.589T= (p.Ser197=) c.25T= (p.Ser9=) | |
| 1 | g.12192922C>A | CA338455117 | TNFRSF1B | c.611C>A (p.Ser204Tyr) n.323C>A n.600C>A c.590C>A (p.Ser197Tyr) c.26C>A (p.Ser9Tyr) | |
| 1 | g.12192922C>G | CA338455120 | TNFRSF1B | c.611C>G (p.Ser204Cys) n.323C>G n.600C>G c.590C>G (p.Ser197Cys) c.26C>G (p.Ser9Cys) | |
| 1 | g.12192922C>T | CA338455123 | TNFRSF1B | c.611C>T (p.Ser204Phe) n.323C>T n.600C>T c.590C>T (p.Ser197Phe) c.26C>T (p.Ser9Phe) | |
| 1 | g.12192923C>A | CA416364745 | TNFRSF1B | c.612C>A (p.Ser204=) n.324C>A n.601C>A c.591C>A (p.Ser197=) c.27C>A (p.Ser9=) |