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 |
|---|---|---|---|---|---|
| 3 | g.136298050G>A | CA343146 | PCCB | c.862G>A (p.Val288Ile) c.793G>A (p.Val265Ile) c.955G>A (p.Val319Ile) c.922G>A (p.Val308Ile) n.819G>A n.487G>A n.776G>A c.514G>A (p.Val172Ile) c.805G>A (p.Val269Ile) c.691G>A (p.Val231Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.136298050G>C | CA2631894 | PCCB | c.862G>C (p.Val288Leu) c.793G>C (p.Val265Leu) c.955G>C (p.Val319Leu) c.922G>C (p.Val308Leu) n.819G>C n.487G>C n.776G>C c.514G>C (p.Val172Leu) c.805G>C (p.Val269Leu) c.691G>C (p.Val231Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.136298050G= | CA1404333885 | PCCB | c.862G= (p.Val288=) c.793G= (p.Val265=) c.955G= (p.Val319=) c.922G= (p.Val308=) n.819G= n.487G= n.776G= c.514G= (p.Val172=) c.805G= (p.Val269=) c.691G= (p.Val231=) | |
| 3 | g.136298050G>T | CA354644906 | PCCB | c.862G>T (p.Val288Phe) c.793G>T (p.Val265Phe) c.955G>T (p.Val319Phe) c.922G>T (p.Val308Phe) n.819G>T n.487G>T n.776G>T c.514G>T (p.Val172Phe) c.805G>T (p.Val269Phe) c.691G>T (p.Val231Phe) | |
| 3 | g.136298051T>A | CA354644908 | PCCB | c.863T>A (p.Val288Asp) c.794T>A (p.Val265Asp) c.956T>A (p.Val319Asp) c.923T>A (p.Val308Asp) n.820T>A n.488T>A n.777T>A c.515T>A (p.Val172Asp) c.806T>A (p.Val269Asp) c.692T>A (p.Val231Asp) | |
| 3 | g.136298051T>C | CA354644910 | PCCB | c.863T>C (p.Val288Ala) c.794T>C (p.Val265Ala) c.956T>C (p.Val319Ala) c.923T>C (p.Val308Ala) n.820T>C n.488T>C n.777T>C c.515T>C (p.Val172Ala) c.806T>C (p.Val269Ala) c.692T>C (p.Val231Ala) | |
| 3 | g.136298051T>G | CA354644912 | PCCB | c.863T>G (p.Val288Gly) c.794T>G (p.Val265Gly) c.956T>G (p.Val319Gly) c.923T>G (p.Val308Gly) n.820T>G n.488T>G n.777T>G c.515T>G (p.Val172Gly) c.806T>G (p.Val269Gly) c.692T>G (p.Val231Gly) | |
| 3 | g.136298052C>A | CA435839960 | PCCB | c.864C>A (p.Val288=) c.795C>A (p.Val265=) c.957C>A (p.Val319=) c.924C>A (p.Val308=) n.821C>A n.489C>A n.778C>A c.516C>A (p.Val172=) c.807C>A (p.Val269=) c.693C>A (p.Val231=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.136298052C= | CA1404333891 | PCCB | c.864C= (p.Val288=) c.795C= (p.Val265=) c.957C= (p.Val319=) c.924C= (p.Val308=) n.821C= n.489C= n.778C= c.516C= (p.Val172=) c.807C= (p.Val269=) c.693C= (p.Val231=) | |
| 3 | g.136298052C>G | CA435839963 | PCCB | c.864C>G (p.Val288=) c.795C>G (p.Val265=) c.957C>G (p.Val319=) c.924C>G (p.Val308=) n.821C>G n.489C>G n.778C>G c.516C>G (p.Val172=) c.807C>G (p.Val269=) c.693C>G (p.Val231=) | |
| 3 | g.136298052C>T | CA435839965 | PCCB | c.864C>T (p.Val288=) c.795C>T (p.Val265=) c.957C>T (p.Val319=) c.924C>T (p.Val308=) n.821C>T n.489C>T n.778C>T c.516C>T (p.Val172=) c.807C>T (p.Val269=) c.693C>T (p.Val231=) | dbSNP |
| 3 | g.136298053C>A | CA354644916 | PCCB | c.865C>A (p.Arg289Ser) c.796C>A (p.Arg266Ser) c.958C>A (p.Arg320Ser) c.925C>A (p.Arg309Ser) n.822C>A n.490C>A n.779C>A c.517C>A (p.Arg173Ser) c.808C>A (p.Arg270Ser) c.694C>A (p.Arg232Ser) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.136298053C= | CA1404333896 | PCCB | c.865C= (p.Arg289=) c.796C= (p.Arg266=) c.958C= (p.Arg320=) c.925C= (p.Arg309=) n.822C= n.490C= n.779C= c.517C= (p.Arg173=) c.808C= (p.Arg270=) c.694C= (p.Arg232=) | |
| 3 | g.136298053C>G | CA354644914 | PCCB | c.865C>G (p.Arg289Gly) c.796C>G (p.Arg266Gly) c.958C>G (p.Arg320Gly) c.925C>G (p.Arg309Gly) n.822C>G n.490C>G n.779C>G c.517C>G (p.Arg173Gly) c.808C>G (p.Arg270Gly) c.694C>G (p.Arg232Gly) | gnomAD v4 |
| 3 | g.136298053C>T | CA2631895 | PCCB | c.865C>T (p.Arg289Cys) c.796C>T (p.Arg266Cys) c.958C>T (p.Arg320Cys) c.925C>T (p.Arg309Cys) n.822C>T n.490C>T n.779C>T c.517C>T (p.Arg173Cys) c.808C>T (p.Arg270Cys) c.694C>T (p.Arg232Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.136298054G>A | CA2631896 | PCCB | c.866G>A (p.Arg289His) c.797G>A (p.Arg266His) c.959G>A (p.Arg320His) c.926G>A (p.Arg309His) n.823G>A n.491G>A n.780G>A c.518G>A (p.Arg173His) c.809G>A (p.Arg270His) c.695G>A (p.Arg232His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.136298054G>C | CA2631897 | PCCB | c.866G>C (p.Arg289Pro) c.797G>C (p.Arg266Pro) c.959G>C (p.Arg320Pro) c.926G>C (p.Arg309Pro) n.823G>C n.491G>C n.780G>C c.518G>C (p.Arg173Pro) c.809G>C (p.Arg270Pro) c.695G>C (p.Arg232Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.136298054G= | CA1404333904 | PCCB | c.866G= (p.Arg289=) c.797G= (p.Arg266=) c.959G= (p.Arg320=) c.926G= (p.Arg309=) n.823G= n.491G= n.780G= c.518G= (p.Arg173=) c.809G= (p.Arg270=) c.695G= (p.Arg232=) | |
| 3 | g.136298054G>T | CA354644920 | PCCB | c.866G>T (p.Arg289Leu) c.797G>T (p.Arg266Leu) c.959G>T (p.Arg320Leu) c.926G>T (p.Arg309Leu) n.823G>T n.491G>T n.780G>T c.518G>T (p.Arg173Leu) c.809G>T (p.Arg270Leu) c.695G>T (p.Arg232Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.136298055T>A | CA435839969 | PCCB | c.867T>A (p.Arg289=) c.798T>A (p.Arg266=) c.960T>A (p.Arg320=) c.927T>A (p.Arg309=) n.824T>A n.492T>A n.781T>A c.519T>A (p.Arg173=) c.810T>A (p.Arg270=) c.696T>A (p.Arg232=) | |
| 3 | g.136298055T>C | CA435839971 | PCCB | c.867T>C (p.Arg289=) c.798T>C (p.Arg266=) c.960T>C (p.Arg320=) c.927T>C (p.Arg309=) n.824T>C n.492T>C n.781T>C c.519T>C (p.Arg173=) c.810T>C (p.Arg270=) c.696T>C (p.Arg232=) | |
| 3 | g.136298055T>G | CA435839970 | PCCB | c.867T>G (p.Arg289=) c.798T>G (p.Arg266=) c.960T>G (p.Arg320=) c.927T>G (p.Arg309=) n.824T>G n.492T>G n.781T>G c.519T>G (p.Arg173=) c.810T>G (p.Arg270=) c.696T>G (p.Arg232=) | |
| 3 | g.136298056G>A | CA354644922 | PCCB | c.868G>A (p.Glu290Lys) c.799G>A (p.Glu267Lys) c.961G>A (p.Glu321Lys) c.928G>A (p.Glu310Lys) n.825G>A n.493G>A n.782G>A c.520G>A (p.Glu174Lys) c.811G>A (p.Glu271Lys) c.697G>A (p.Glu233Lys) | |
| 3 | g.136298056G>C | CA354644924 | PCCB | c.868G>C (p.Glu290Gln) c.799G>C (p.Glu267Gln) c.961G>C (p.Glu321Gln) c.928G>C (p.Glu310Gln) n.825G>C n.493G>C n.782G>C c.520G>C (p.Glu174Gln) c.811G>C (p.Glu271Gln) c.697G>C (p.Glu233Gln) | |
| 3 | g.136298056G>T | CA354644925 | PCCB | c.868G>T (p.Glu290Ter) c.799G>T (p.Glu267Ter) c.961G>T (p.Glu321Ter) c.928G>T (p.Glu310Ter) n.825G>T n.493G>T n.782G>T c.520G>T (p.Glu174Ter) c.811G>T (p.Glu271Ter) c.697G>T (p.Glu233Ter) | |
| 3 | g.136298057A>C | CA354644931 | PCCB | c.869A>C (p.Glu290Ala) c.800A>C (p.Glu267Ala) c.962A>C (p.Glu321Ala) c.929A>C (p.Glu310Ala) n.826A>C n.494A>C n.783A>C c.521A>C (p.Glu174Ala) c.812A>C (p.Glu271Ala) c.698A>C (p.Glu233Ala) | |
| 3 | g.136298057A>G | CA354644927 | PCCB | c.869A>G (p.Glu290Gly) c.800A>G (p.Glu267Gly) c.962A>G (p.Glu321Gly) c.929A>G (p.Glu310Gly) n.826A>G n.494A>G n.783A>G c.521A>G (p.Glu174Gly) c.812A>G (p.Glu271Gly) c.698A>G (p.Glu233Gly) | |
| 3 | g.136298057A>T | CA354644929 | PCCB | c.869A>T (p.Glu290Val) c.800A>T (p.Glu267Val) c.962A>T (p.Glu321Val) c.929A>T (p.Glu310Val) n.826A>T n.494A>T n.783A>T c.521A>T (p.Glu174Val) c.812A>T (p.Glu271Val) c.698A>T (p.Glu233Val) | |
| 3 | g.136298058G>A | CA435839973 | PCCB | c.870G>A (p.Glu290=) c.801G>A (p.Glu267=) c.963G>A (p.Glu321=) c.930G>A (p.Glu310=) n.827G>A n.495G>A n.784G>A c.522G>A (p.Glu174=) c.813G>A (p.Glu271=) c.699G>A (p.Glu233=) | gnomAD v4 |
| 3 | g.136298058G>C | CA354644933 | PCCB | c.870G>C (p.Glu290Asp) c.801G>C (p.Glu267Asp) c.963G>C (p.Glu321Asp) c.930G>C (p.Glu310Asp) n.827G>C n.495G>C n.784G>C c.522G>C (p.Glu174Asp) c.813G>C (p.Glu271Asp) c.699G>C (p.Glu233Asp) | |
| 3 | g.136298058G>T | CA354644935 | PCCB | c.870G>T (p.Glu290Asp) c.801G>T (p.Glu267Asp) c.963G>T (p.Glu321Asp) c.930G>T (p.Glu310Asp) n.827G>T n.495G>T n.784G>T c.522G>T (p.Glu174Asp) c.813G>T (p.Glu271Asp) c.699G>T (p.Glu233Asp) | |
| 3 | g.136298059T>A | CA354644937 | PCCB | c.871T>A (p.Cys291Ser) c.802T>A (p.Cys268Ser) c.964T>A (p.Cys322Ser) c.931T>A (p.Cys311Ser) n.828T>A n.496T>A n.785T>A c.523T>A (p.Cys175Ser) c.814T>A (p.Cys272Ser) c.700T>A (p.Cys234Ser) | |
| 3 | g.136298059T>C | CA354644939 | PCCB | c.871T>C (p.Cys291Arg) c.802T>C (p.Cys268Arg) c.964T>C (p.Cys322Arg) c.931T>C (p.Cys311Arg) n.828T>C n.496T>C n.785T>C c.523T>C (p.Cys175Arg) c.814T>C (p.Cys272Arg) c.700T>C (p.Cys234Arg) | |
| 3 | g.136298059T>G | CA354644941 | PCCB | c.871T>G (p.Cys291Gly) c.802T>G (p.Cys268Gly) c.964T>G (p.Cys322Gly) c.931T>G (p.Cys311Gly) n.828T>G n.496T>G n.785T>G c.523T>G (p.Cys175Gly) c.814T>G (p.Cys272Gly) c.700T>G (p.Cys234Gly) | |
| 3 | g.136298060G>A | CA2631898 | PCCB | c.872G>A (p.Cys291Tyr) c.803G>A (p.Cys268Tyr) c.965G>A (p.Cys322Tyr) c.932G>A (p.Cys311Tyr) n.829G>A n.497G>A n.786G>A c.524G>A (p.Cys175Tyr) c.815G>A (p.Cys272Tyr) c.701G>A (p.Cys234Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.136298060G>C | CA354644945 | PCCB | c.872G>C (p.Cys291Ser) c.803G>C (p.Cys268Ser) c.965G>C (p.Cys322Ser) c.932G>C (p.Cys311Ser) n.829G>C n.497G>C n.786G>C c.524G>C (p.Cys175Ser) c.815G>C (p.Cys272Ser) c.701G>C (p.Cys234Ser) | |
| 3 | g.136298060G= | CA1404333913 | PCCB | c.872G= (p.Cys291=) c.803G= (p.Cys268=) c.965G= (p.Cys322=) c.932G= (p.Cys311=) n.829G= n.497G= n.786G= c.524G= (p.Cys175=) c.815G= (p.Cys272=) c.701G= (p.Cys234=) | |
| 3 | g.136298060G>T | CA354644943 | PCCB | c.872G>T (p.Cys291Phe) c.803G>T (p.Cys268Phe) c.965G>T (p.Cys322Phe) c.932G>T (p.Cys311Phe) n.829G>T n.497G>T n.786G>T c.524G>T (p.Cys175Phe) c.815G>T (p.Cys272Phe) c.701G>T (p.Cys234Phe) | |
| 3 | g.136298061C>A | CA354644947 | PCCB | c.873C>A (p.Cys291Ter) c.804C>A (p.Cys268Ter) c.966C>A (p.Cys322Ter) c.933C>A (p.Cys311Ter) n.830C>A n.498C>A n.787C>A c.525C>A (p.Cys175Ter) c.816C>A (p.Cys272Ter) c.702C>A (p.Cys234Ter) | |
| 3 | g.136298061C>G | CA354644949 | PCCB | c.873C>G (p.Cys291Trp) c.804C>G (p.Cys268Trp) c.966C>G (p.Cys322Trp) c.933C>G (p.Cys311Trp) n.830C>G n.498C>G n.787C>G c.525C>G (p.Cys175Trp) c.816C>G (p.Cys272Trp) c.702C>G (p.Cys234Trp) | |
| 3 | g.136298061C>T | CA435839975 | PCCB | c.873C>T (p.Cys291=) c.804C>T (p.Cys268=) c.966C>T (p.Cys322=) c.933C>T (p.Cys311=) n.830C>T n.498C>T n.787C>T c.525C>T (p.Cys175=) c.816C>T (p.Cys272=) c.702C>T (p.Cys234=) | |
| 3 | g.136298062C>A | CA354644951 | PCCB | c.874C>A (p.His292Asn) c.805C>A (p.His269Asn) c.967C>A (p.His323Asn) c.934C>A (p.His312Asn) n.831C>A n.499C>A n.788C>A c.526C>A (p.His176Asn) c.817C>A (p.His273Asn) c.703C>A (p.His235Asn) | |
| 3 | g.136298062C= | CA1404333916 | PCCB | c.874C= (p.His292=) c.805C= (p.His269=) c.967C= (p.His323=) c.934C= (p.His312=) n.831C= n.499C= n.788C= c.526C= (p.His176=) c.817C= (p.His273=) c.703C= (p.His235=) | |
| 3 | g.136298062C>G | CA354644953 | PCCB | c.874C>G (p.His292Asp) c.805C>G (p.His269Asp) c.967C>G (p.His323Asp) c.934C>G (p.His312Asp) n.831C>G n.499C>G n.788C>G c.526C>G (p.His176Asp) c.817C>G (p.His273Asp) c.703C>G (p.His235Asp) | |
| 3 | g.136298062C>T | CA354644954 | PCCB | c.874C>T (p.His292Tyr) c.805C>T (p.His269Tyr) c.967C>T (p.His323Tyr) c.934C>T (p.His312Tyr) n.831C>T n.499C>T n.788C>T c.526C>T (p.His176Tyr) c.817C>T (p.His273Tyr) c.703C>T (p.His235Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.136298063A>C | CA354644956 | PCCB | c.875A>C (p.His292Pro) c.806A>C (p.His269Pro) c.968A>C (p.His323Pro) c.935A>C (p.His312Pro) n.832A>C n.500A>C n.789A>C c.527A>C (p.His176Pro) c.818A>C (p.His273Pro) c.704A>C (p.His235Pro) | |
| 3 | g.136298063A>G | CA354644958 | PCCB | c.875A>G (p.His292Arg) c.806A>G (p.His269Arg) c.968A>G (p.His323Arg) c.935A>G (p.His312Arg) n.832A>G n.500A>G n.789A>G c.527A>G (p.His176Arg) c.818A>G (p.His273Arg) c.704A>G (p.His235Arg) | ClinVar dbSNP |
| 3 | g.136298063A>T | CA354644960 | PCCB | c.875A>T (p.His292Leu) c.806A>T (p.His269Leu) c.968A>T (p.His323Leu) c.935A>T (p.His312Leu) n.832A>T n.500A>T n.789A>T c.527A>T (p.His176Leu) c.818A>T (p.His273Leu) c.704A>T (p.His235Leu) | |
| 3 | g.136298064C>A | CA354644961 | PCCB | c.876C>A (p.His292Gln) c.807C>A (p.His269Gln) c.969C>A (p.His323Gln) c.936C>A (p.His312Gln) n.833C>A n.501C>A n.790C>A c.528C>A (p.His176Gln) c.819C>A (p.His273Gln) c.705C>A (p.His235Gln) | |
| 3 | g.136298064C= | CA1404333920 | PCCB | c.876C= (p.His292=) c.807C= (p.His269=) c.969C= (p.His323=) c.936C= (p.His312=) n.833C= n.501C= n.790C= c.528C= (p.His176=) c.819C= (p.His273=) c.705C= (p.His235=) |