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 |
|---|---|---|---|---|---|
| 7 | g.41967887_41967888delinsTG | CA1702661963 | GLI3 | c.2139_2140delinsCA (p.Cys713=) c.1965_1966delinsCA (p.Cys655=) n.2116_2117delinsCA c.1962_1963delinsCA (p.Cys654=) c.2136_2137delinsCA (p.Cys712=) | |
| 7 | g.41967888del | CA342920 | GLI3 | c.2139del (p.Cys713Ter) c.1965del (p.Cys655Ter) n.2116del c.1962del (p.Cys654Ter) c.2136del (p.Cys712Ter) | dbSNP |
| 7 | g.41967888G>A | CA454525164 | GLI3 | c.2139C>T (p.Cys713=) c.1965C>T (p.Cys655=) n.2116C>T c.1962C>T (p.Cys654=) c.2136C>T (p.Cys712=) | |
| 7 | g.41967888G>C | CA367321721 | GLI3 | c.2139C>G (p.Cys713Trp) c.1965C>G (p.Cys655Trp) n.2116C>G c.1962C>G (p.Cys654Trp) c.2136C>G (p.Cys712Trp) | gnomAD v4 |
| 7 | g.41967888G>T | CA367321722 | GLI3 | c.2139C>A (p.Cys713Ter) c.1965C>A (p.Cys655Ter) n.2116C>A c.1962C>A (p.Cys654Ter) c.2136C>A (p.Cys712Ter) | |
| 7 | g.41967889C>A | CA367321723 | GLI3 | c.2138G>T (p.Cys713Phe) c.1964G>T (p.Cys655Phe) n.2115G>T c.1961G>T (p.Cys654Phe) c.2135G>T (p.Cys712Phe) | |
| 7 | g.41967889C>G | CA367321724 | GLI3 | c.2138G>C (p.Cys713Ser) c.1964G>C (p.Cys655Ser) n.2115G>C c.1961G>C (p.Cys654Ser) c.2135G>C (p.Cys712Ser) | |
| 7 | g.41967889C>T | CA367321725 | GLI3 | c.2138G>A (p.Cys713Tyr) c.1964G>A (p.Cys655Tyr) n.2115G>A c.1961G>A (p.Cys654Tyr) c.2135G>A (p.Cys712Tyr) | |
| 7 | g.41967890A>C | CA367321727 | GLI3 | c.2137T>G (p.Cys713Gly) c.1963T>G (p.Cys655Gly) n.2114T>G c.1960T>G (p.Cys654Gly) c.2134T>G (p.Cys712Gly) | |
| 7 | g.41967890A>G | CA367321728 | GLI3 | c.2137T>C (p.Cys713Arg) c.1963T>C (p.Cys655Arg) n.2114T>C c.1960T>C (p.Cys654Arg) c.2134T>C (p.Cys712Arg) | ClinVar |
| 7 | g.41967890A>T | CA367321726 | GLI3 | c.2137T>A (p.Cys713Ser) c.1963T>A (p.Cys655Ser) n.2114T>A c.1960T>A (p.Cys654Ser) c.2134T>A (p.Cys712Ser) | |
| 7 | g.41967891T>A | CA454525171 | GLI3 | c.2136A>T (p.Ser712=) c.1962A>T (p.Ser654=) n.2113A>T c.1959A>T (p.Ser653=) c.2133A>T (p.Ser711=) | |
| 7 | g.41967891T>C | CA454525172 | GLI3 | c.2136A>G (p.Ser712=) c.1962A>G (p.Ser654=) n.2113A>G c.1959A>G (p.Ser653=) c.2133A>G (p.Ser711=) | |
| 7 | g.41967891T>G | CA454525173 | GLI3 | c.2136A>C (p.Ser712=) c.1962A>C (p.Ser654=) n.2113A>C c.1959A>C (p.Ser653=) c.2133A>C (p.Ser711=) | |
| 7 | g.41967892G>A | CA367321729 | GLI3 | c.2135C>T (p.Ser712Leu) c.1961C>T (p.Ser654Leu) n.2112C>T c.1958C>T (p.Ser653Leu) c.2132C>T (p.Ser711Leu) | |
| 7 | g.41967892G>C | CA367321730 | GLI3 | c.2135C>G (p.Ser712Ter) c.1961C>G (p.Ser654Ter) n.2112C>G c.1958C>G (p.Ser653Ter) c.2132C>G (p.Ser711Ter) | |
| 7 | g.41967892G>T | CA367321731 | GLI3 | c.2135C>A (p.Ser712Ter) c.1961C>A (p.Ser654Ter) n.2112C>A c.1958C>A (p.Ser653Ter) c.2132C>A (p.Ser711Ter) | |
| 7 | g.41967893A>C | CA367321732 | GLI3 | c.2134T>G (p.Ser712Ala) c.1960T>G (p.Ser654Ala) n.2111T>G c.1957T>G (p.Ser653Ala) c.2131T>G (p.Ser711Ala) | |
| 7 | g.41967893A>G | CA367321733 | GLI3 | c.2134T>C (p.Ser712Pro) c.1960T>C (p.Ser654Pro) n.2111T>C c.1957T>C (p.Ser653Pro) c.2131T>C (p.Ser711Pro) | ClinVar dbSNP |
| 7 | g.41967893A>T | CA367321734 | GLI3 | c.2134T>A (p.Ser712Thr) c.1960T>A (p.Ser654Thr) n.2111T>A c.1957T>A (p.Ser653Thr) c.2131T>A (p.Ser711Thr) | |
| 7 | g.41967894A>C | CA454525175 | GLI3 | c.2133T>G (p.Ser711=) c.1959T>G (p.Ser653=) n.2110T>G c.1956T>G (p.Ser652=) c.2130T>G (p.Ser710=) | |
| 7 | g.41967894A>G | CA454525176 | GLI3 | c.2133T>C (p.Ser711=) c.1959T>C (p.Ser653=) n.2110T>C c.1956T>C (p.Ser652=) c.2130T>C (p.Ser710=) | |
| 7 | g.41967894A>T | CA454525178 | GLI3 | c.2133T>A (p.Ser711=) c.1959T>A (p.Ser653=) n.2110T>A c.1956T>A (p.Ser652=) c.2130T>A (p.Ser710=) | |
| 7 | g.41967895G>A | CA367321735 | GLI3 | c.2132C>T (p.Ser711Phe) c.1958C>T (p.Ser653Phe) n.2109C>T c.1955C>T (p.Ser652Phe) c.2129C>T (p.Ser710Phe) | |
| 7 | g.41967895G>C | CA367321737 | GLI3 | c.2132C>G (p.Ser711Cys) c.1958C>G (p.Ser653Cys) n.2109C>G c.1955C>G (p.Ser652Cys) c.2129C>G (p.Ser710Cys) | |
| 7 | g.41967895G>T | CA367321736 | GLI3 | c.2132C>A (p.Ser711Tyr) c.1958C>A (p.Ser653Tyr) n.2109C>A c.1955C>A (p.Ser652Tyr) c.2129C>A (p.Ser710Tyr) | |
| 7 | g.41967896A>C | CA367321738 | GLI3 | c.2131T>G (p.Ser711Ala) c.1957T>G (p.Ser653Ala) n.2108T>G c.1954T>G (p.Ser652Ala) c.2128T>G (p.Ser710Ala) | |
| 7 | g.41967896A>G | CA367321739 | GLI3 | c.2131T>C (p.Ser711Pro) c.1957T>C (p.Ser653Pro) n.2108T>C c.1954T>C (p.Ser652Pro) c.2128T>C (p.Ser710Pro) | |
| 7 | g.41967896A>T | CA367321740 | GLI3 | c.2131T>A (p.Ser711Thr) c.1957T>A (p.Ser653Thr) n.2108T>A c.1954T>A (p.Ser652Thr) c.2128T>A (p.Ser710Thr) | |
| 7 | g.41967897C>A | CA4230674 | GLI3 | c.2130G>T (p.Gln710His) c.1956G>T (p.Gln652His) n.2107G>T c.1953G>T (p.Gln651His) c.2127G>T (p.Gln709His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41967897C= | CA1702661964 | GLI3 | c.2130G= (p.Gln710=) c.1956G= (p.Gln652=) n.2107G= c.1953G= (p.Gln651=) c.2127G= (p.Gln709=) | |
| 7 | g.41967897C>G | CA367321741 | GLI3 | c.2130G>C (p.Gln710His) c.1956G>C (p.Gln652His) n.2107G>C c.1953G>C (p.Gln651His) c.2127G>C (p.Gln709His) | |
| 7 | g.41967897C>T | CA454525179 | GLI3 | c.2130G>A (p.Gln710=) c.1956G>A (p.Gln652=) n.2107G>A c.1953G>A (p.Gln651=) c.2127G>A (p.Gln709=) | |
| 7 | g.41967898T>A | CA367321743 | GLI3 | c.2129A>T (p.Gln710Leu) c.1955A>T (p.Gln652Leu) n.2106A>T c.1952A>T (p.Gln651Leu) c.2126A>T (p.Gln709Leu) | |
| 7 | g.41967898T>C | CA367321744 | GLI3 | c.2129A>G (p.Gln710Arg) c.1955A>G (p.Gln652Arg) n.2106A>G c.1952A>G (p.Gln651Arg) c.2126A>G (p.Gln709Arg) | |
| 7 | g.41967898T>G | CA367321742 | GLI3 | c.2129A>C (p.Gln710Pro) c.1955A>C (p.Gln652Pro) n.2106A>C c.1952A>C (p.Gln651Pro) c.2126A>C (p.Gln709Pro) | |
| 7 | g.41967899G>A | CA367321746 | GLI3 | c.2128C>T (p.Gln710Ter) c.1954C>T (p.Gln652Ter) n.2105C>T c.1951C>T (p.Gln651Ter) c.2125C>T (p.Gln709Ter) | |
| 7 | g.41967899G>C | CA367321745 | GLI3 | c.2128C>G (p.Gln710Glu) c.1954C>G (p.Gln652Glu) n.2105C>G c.1951C>G (p.Gln651Glu) c.2125C>G (p.Gln709Glu) | gnomAD v4 |
| 7 | g.41967899G>T | CA367321747 | GLI3 | c.2128C>A (p.Gln710Lys) c.1954C>A (p.Gln652Lys) n.2105C>A c.1951C>A (p.Gln651Lys) c.2125C>A (p.Gln709Lys) | |
| 7 | g.41967900A>C | CA454525183 | GLI3 | c.2127T>G (p.Gly709=) c.1953T>G (p.Gly651=) n.2104T>G c.1950T>G (p.Gly650=) c.2124T>G (p.Gly708=) | |
| 7 | g.41967900A>G | CA454525184 | GLI3 | c.2127T>C (p.Gly709=) c.1953T>C (p.Gly651=) n.2104T>C c.1950T>C (p.Gly650=) c.2124T>C (p.Gly708=) | |
| 7 | g.41967900A>T | CA454525185 | GLI3 | c.2127T>A (p.Gly709=) c.1953T>A (p.Gly651=) n.2104T>A c.1950T>A (p.Gly650=) c.2124T>A (p.Gly708=) | |
| 7 | g.41967901C>A | CA367321748 | GLI3 | c.2126G>T (p.Gly709Val) c.1952G>T (p.Gly651Val) n.2103G>T c.1949G>T (p.Gly650Val) c.2123G>T (p.Gly708Val) | |
| 7 | g.41967901C>G | CA367321750 | GLI3 | c.2126G>C (p.Gly709Ala) c.1952G>C (p.Gly651Ala) n.2103G>C c.1949G>C (p.Gly650Ala) c.2123G>C (p.Gly708Ala) | |
| 7 | g.41967901C>T | CA367321749 | GLI3 | c.2126G>A (p.Gly709Asp) c.1952G>A (p.Gly651Asp) n.2103G>A c.1949G>A (p.Gly650Asp) c.2123G>A (p.Gly708Asp) | |
| 7 | g.41967902_41967905del | CA2695207650 | GLI3 | c.2123_2126del (p.Gly708ValfsTer24) c.1949_1952del (p.Gly650ValfsTer24) n.2100_2103del c.1946_1949del (p.Gly649ValfsTer24) c.2120_2123del (p.Gly707ValfsTer24) | |
| 7 | g.41967902C>A | CA367321751 | GLI3 | c.2125G>T (p.Gly709Cys) c.1951G>T (p.Gly651Cys) n.2102G>T c.1948G>T (p.Gly650Cys) c.2122G>T (p.Gly708Cys) | gnomAD v4 |
| 7 | g.41967902C>G | CA367321753 | GLI3 | c.2125G>C (p.Gly709Arg) c.1951G>C (p.Gly651Arg) n.2102G>C c.1948G>C (p.Gly650Arg) c.2122G>C (p.Gly708Arg) | |
| 7 | g.41967902C>T | CA367321752 | GLI3 | c.2125G>A (p.Gly709Ser) c.1951G>A (p.Gly651Ser) n.2102G>A c.1948G>A (p.Gly650Ser) c.2122G>A (p.Gly708Ser) | |
| 7 | g.41967903A>C | CA454525187 | GLI3 | c.2124T>G (p.Gly708=) c.1950T>G (p.Gly650=) n.2101T>G c.1947T>G (p.Gly649=) c.2121T>G (p.Gly707=) |