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.41967808T>A | CA367321546 | GLI3 | c.2219A>T (p.Asp740Val) c.2045A>T (p.Asp682Val) n.2196A>T c.2042A>T (p.Asp681Val) c.2216A>T (p.Asp739Val) | dbSNP |
| 7 | g.41967808T>C | CA367321547 | GLI3 | c.2219A>G (p.Asp740Gly) c.2045A>G (p.Asp682Gly) n.2196A>G c.2042A>G (p.Asp681Gly) c.2216A>G (p.Asp739Gly) | dbSNP |
| 7 | g.41967808T>G | CA367321548 | GLI3 | c.2219A>C (p.Asp740Ala) c.2045A>C (p.Asp682Ala) n.2196A>C c.2042A>C (p.Asp681Ala) c.2216A>C (p.Asp739Ala) | |
| 7 | g.41967809C>A | CA367321549 | GLI3 | c.2218G>T (p.Asp740Tyr) c.2044G>T (p.Asp682Tyr) n.2195G>T c.2041G>T (p.Asp681Tyr) c.2215G>T (p.Asp739Tyr) | dbSNP |
| 7 | g.41967809C>G | CA367321550 | GLI3 | c.2218G>C (p.Asp740His) c.2044G>C (p.Asp682His) n.2195G>C c.2041G>C (p.Asp681His) c.2215G>C (p.Asp739His) | dbSNP |
| 7 | g.41967809C>T | CA367321551 | GLI3 | c.2218G>A (p.Asp740Asn) c.2044G>A (p.Asp682Asn) n.2195G>A c.2041G>A (p.Asp681Asn) c.2215G>A (p.Asp739Asn) | dbSNP |
| 7 | g.41967810T>A | CA454663491 | GLI3 | c.2217A>T (p.Gly739=) c.2043A>T (p.Gly681=) n.2194A>T c.2040A>T (p.Gly680=) c.2214A>T (p.Gly738=) | dbSNP |
| 7 | g.41967810T>C | CA454663490 | GLI3 | c.2217A>G (p.Gly739=) c.2043A>G (p.Gly681=) n.2194A>G c.2040A>G (p.Gly680=) c.2214A>G (p.Gly738=) | |
| 7 | g.41967810T>G | CA454663489 | GLI3 | c.2217A>C (p.Gly739=) c.2043A>C (p.Gly681=) n.2194A>C c.2040A>C (p.Gly680=) c.2214A>C (p.Gly738=) | |
| 7 | g.41967811C>A | CA367321552 | GLI3 | c.2216G>T (p.Gly739Val) c.2042G>T (p.Gly681Val) n.2193G>T c.2039G>T (p.Gly680Val) c.2213G>T (p.Gly738Val) | |
| 7 | g.41967811C>G | CA367321553 | GLI3 | c.2216G>C (p.Gly739Ala) c.2042G>C (p.Gly681Ala) n.2193G>C c.2039G>C (p.Gly680Ala) c.2213G>C (p.Gly738Ala) | |
| 7 | g.41967811C>T | CA367321554 | GLI3 | c.2216G>A (p.Gly739Glu) c.2042G>A (p.Gly681Glu) n.2193G>A c.2039G>A (p.Gly680Glu) c.2213G>A (p.Gly738Glu) | |
| 7 | g.41967812C>A | CA367321555 | GLI3 | c.2215G>T (p.Gly739Ter) c.2041G>T (p.Gly681Ter) n.2192G>T c.2038G>T (p.Gly680Ter) c.2212G>T (p.Gly738Ter) | dbSNP |
| 7 | g.41967812C>G | CA367321556 | GLI3 | c.2215G>C (p.Gly739Arg) c.2041G>C (p.Gly681Arg) n.2192G>C c.2038G>C (p.Gly680Arg) c.2212G>C (p.Gly738Arg) | dbSNP |
| 7 | g.41967812C>T | CA367321557 | GLI3 | c.2215G>A (p.Gly739Arg) c.2041G>A (p.Gly681Arg) n.2192G>A c.2038G>A (p.Gly680Arg) c.2212G>A (p.Gly738Arg) | dbSNP |
| 7 | g.41967813T>A | CA454663497 | GLI3 | c.2214A>T (p.Ile738=) c.2040A>T (p.Ile680=) n.2191A>T c.2037A>T (p.Ile679=) c.2211A>T (p.Ile737=) | |
| 7 | g.41967813T>C | CA367321558 | GLI3 | c.2214A>G (p.Ile738Met) c.2040A>G (p.Ile680Met) n.2191A>G c.2037A>G (p.Ile679Met) c.2211A>G (p.Ile737Met) | |
| 7 | g.41967813T>G | CA454663494 | GLI3 | c.2214A>C (p.Ile738=) c.2040A>C (p.Ile680=) n.2191A>C c.2037A>C (p.Ile679=) c.2211A>C (p.Ile737=) | |
| 7 | g.41967814A= | CA1702661933 | GLI3 | c.2213T= (p.Ile738=) c.2039T= (p.Ile680=) n.2190T= c.2036T= (p.Ile679=) c.2210T= (p.Ile737=) | |
| 7 | g.41967814A>C | CA367321561 | GLI3 | c.2213T>G (p.Ile738Arg) c.2039T>G (p.Ile680Arg) n.2190T>G c.2036T>G (p.Ile679Arg) c.2210T>G (p.Ile737Arg) | |
| 7 | g.41967814A>G | CA367321559 | GLI3 | c.2213T>C (p.Ile738Thr) c.2039T>C (p.Ile680Thr) n.2190T>C c.2036T>C (p.Ile679Thr) c.2210T>C (p.Ile737Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41967814A>T | CA367321560 | GLI3 | c.2213T>A (p.Ile738Lys) c.2039T>A (p.Ile680Lys) n.2190T>A c.2036T>A (p.Ile679Lys) c.2210T>A (p.Ile737Lys) | |
| 7 | g.41967815T>A | CA367321562 | GLI3 | c.2212A>T (p.Ile738Leu) c.2038A>T (p.Ile680Leu) n.2189A>T c.2035A>T (p.Ile679Leu) c.2209A>T (p.Ile737Leu) | dbSNP |
| 7 | g.41967815T>C | CA367321563 | GLI3 | c.2212A>G (p.Ile738Val) c.2038A>G (p.Ile680Val) n.2189A>G c.2035A>G (p.Ile679Val) c.2209A>G (p.Ile737Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.41967815T>G | CA367321564 | GLI3 | c.2212A>C (p.Ile738Leu) c.2038A>C (p.Ile680Leu) n.2189A>C c.2035A>C (p.Ile679Leu) c.2209A>C (p.Ile737Leu) | |
| 7 | g.41967815T= | CA1702661934 | GLI3 | c.2212A= (p.Ile738=) c.2038A= (p.Ile680=) n.2189A= c.2035A= (p.Ile679=) c.2209A= (p.Ile737=) | |
| 7 | g.41967816del | CA2695207643 | GLI3 | c.2211del (p.Ser737ArgfsTer2) c.2037del (p.Ser679ArgfsTer2) n.2188del c.2034del (p.Ser678ArgfsTer2) c.2208del (p.Ser736ArgfsTer2) | |
| 7 | g.41967816A>C | CA367321565 | GLI3 | c.2211T>G (p.Ser737Arg) c.2037T>G (p.Ser679Arg) n.2188T>G c.2034T>G (p.Ser678Arg) c.2208T>G (p.Ser736Arg) | dbSNP |
| 7 | g.41967816A>G | CA454663501 | GLI3 | c.2211T>C (p.Ser737=) c.2037T>C (p.Ser679=) n.2188T>C c.2034T>C (p.Ser678=) c.2208T>C (p.Ser736=) | |
| 7 | g.41967816A>T | CA367321566 | GLI3 | c.2211T>A (p.Ser737Arg) c.2037T>A (p.Ser679Arg) n.2188T>A c.2034T>A (p.Ser678Arg) c.2208T>A (p.Ser736Arg) | |
| 7 | g.41967817C>A | CA367321567 | GLI3 | c.2210G>T (p.Ser737Ile) c.2036G>T (p.Ser679Ile) n.2187G>T c.2033G>T (p.Ser678Ile) c.2207G>T (p.Ser736Ile) | dbSNP |
| 7 | g.41967817C= | CA1702661935 | GLI3 | c.2210G= (p.Ser737=) c.2036G= (p.Ser679=) n.2187G= c.2033G= (p.Ser678=) c.2207G= (p.Ser736=) | |
| 7 | g.41967817C>G | CA367321568 | GLI3 | c.2210G>C (p.Ser737Thr) c.2036G>C (p.Ser679Thr) n.2187G>C c.2033G>C (p.Ser678Thr) c.2207G>C (p.Ser736Thr) | dbSNP |
| 7 | g.41967817C>T | CA156909352 | GLI3 | c.2210G>A (p.Ser737Asn) c.2036G>A (p.Ser679Asn) n.2187G>A c.2033G>A (p.Ser678Asn) c.2207G>A (p.Ser736Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967818T>A | CA367321569 | GLI3 | c.2209A>T (p.Ser737Cys) c.2035A>T (p.Ser679Cys) n.2186A>T c.2032A>T (p.Ser678Cys) c.2206A>T (p.Ser736Cys) | |
| 7 | g.41967818T>C | CA367321570 | GLI3 | c.2209A>G (p.Ser737Gly) c.2035A>G (p.Ser679Gly) n.2186A>G c.2032A>G (p.Ser678Gly) c.2206A>G (p.Ser736Gly) | |
| 7 | g.41967818T>G | CA367321571 | GLI3 | c.2209A>C (p.Ser737Arg) c.2035A>C (p.Ser679Arg) n.2186A>C c.2032A>C (p.Ser678Arg) c.2206A>C (p.Ser736Arg) | |
| 7 | g.41967819A= | CA1702661936 | GLI3 | c.2208T= (p.Gly736=) c.2034T= (p.Gly678=) n.2185T= c.2031T= (p.Gly677=) c.2205T= (p.Gly735=) | |
| 7 | g.41967819A>C | CA454663504 | GLI3 | c.2208T>G (p.Gly736=) c.2034T>G (p.Gly678=) n.2185T>G c.2031T>G (p.Gly677=) c.2205T>G (p.Gly735=) | dbSNP |
| 7 | g.41967819A>G | CA4230662 | GLI3 | c.2208T>C (p.Gly736=) c.2034T>C (p.Gly678=) n.2185T>C c.2031T>C (p.Gly677=) c.2205T>C (p.Gly735=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967819A>T | CA454663505 | GLI3 | c.2208T>A (p.Gly736=) c.2034T>A (p.Gly678=) n.2185T>A c.2031T>A (p.Gly677=) c.2205T>A (p.Gly735=) | dbSNP |
| 7 | g.41967820C>A | CA367321572 | GLI3 | c.2207G>T (p.Gly736Val) c.2033G>T (p.Gly678Val) n.2184G>T c.2030G>T (p.Gly677Val) c.2204G>T (p.Gly735Val) | dbSNP |
| 7 | g.41967820C= | CA1702661938 | GLI3 | c.2207G= (p.Gly736=) c.2033G= (p.Gly678=) n.2184G= c.2030G= (p.Gly677=) c.2204G= (p.Gly735=) | |
| 7 | g.41967820C>G | CA367321573 | GLI3 | c.2207G>C (p.Gly736Ala) c.2033G>C (p.Gly678Ala) n.2184G>C c.2030G>C (p.Gly677Ala) c.2204G>C (p.Gly735Ala) | dbSNP |
| 7 | g.41967820C>T | CA156909371 | GLI3 | c.2207G>A (p.Gly736Asp) c.2033G>A (p.Gly678Asp) n.2184G>A c.2030G>A (p.Gly677Asp) c.2204G>A (p.Gly735Asp) | dbSNP gnomAD v4 |
| 7 | g.41967821dup | CA2695207644 | GLI3 | c.2207dup (p.Ser737Ter) c.2033dup (p.Ser679Ter) n.2184dup c.2030dup (p.Ser678Ter) c.2204dup (p.Ser736Ter) | |
| 7 | g.41967820_41967839delinsCCTCCATCGGTCAGAGGAAG | CA1702661937 | GLI3 | c.2188_2207delinsCTTCCTCTGACCGATGGAGG (p.Leu730=) c.2014_2033delinsCTTCCTCTGACCGATGGAGG (p.Leu672=) n.2165_2184delinsCTTCCTCTGACCGATGGAGG c.2011_2030delinsCTTCCTCTGACCGATGGAGG (p.Leu671=) c.2185_2204delinsCTTCCTCTGACCGATGGAGG (p.Leu729=) | |
| 7 | g.41967821_41967840del | CA2695207645 | GLI3 | c.2188_2207del (p.Leu730Ter) c.2014_2033del (p.Leu672Ter) n.2165_2184del c.2011_2030del (p.Leu671Ter) c.2185_2204del (p.Leu729Ter) | |
| 7 | g.41967821C>A | CA367321574 | GLI3 | c.2206G>T (p.Gly736Cys) c.2032G>T (p.Gly678Cys) n.2183G>T c.2029G>T (p.Gly677Cys) c.2203G>T (p.Gly735Cys) | dbSNP |
| 7 | g.41967821C>G | CA367321575 | GLI3 | c.2206G>C (p.Gly736Arg) c.2032G>C (p.Gly678Arg) n.2183G>C c.2029G>C (p.Gly677Arg) c.2203G>C (p.Gly735Arg) |