UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.41972341G>A | CA367321818 | GLI3 | c.2099C>T (p.Pro700Leu) c.1925C>T (p.Pro642Leu) n.2076C>T c.1922C>T (p.Pro641Leu) c.2096C>T (p.Pro699Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41972341G>C | CA367321819 | GLI3 | c.2099C>G (p.Pro700Arg) c.1925C>G (p.Pro642Arg) n.2076C>G c.1922C>G (p.Pro641Arg) c.2096C>G (p.Pro699Arg) | |
| 7 | g.41972341G= | CA1702647613 | GLI3 | c.2099C= (p.Pro700=) c.1925C= (p.Pro642=) n.2076C= c.1922C= (p.Pro641=) c.2096C= (p.Pro699=) | |
| 7 | g.41972341G>T | CA367321820 | GLI3 | c.2099C>A (p.Pro700Gln) c.1925C>A (p.Pro642Gln) n.2076C>A c.1922C>A (p.Pro641Gln) c.2096C>A (p.Pro699Gln) | |
| 7 | g.41972342G>A | CA367321821 | GLI3 | c.2098C>T (p.Pro700Ser) c.1924C>T (p.Pro642Ser) n.2075C>T c.1921C>T (p.Pro641Ser) c.2095C>T (p.Pro699Ser) | ClinVar dbSNP gnomAD v4 |
| 7 | g.41972342G>C | CA367321823 | GLI3 | c.2098C>G (p.Pro700Ala) c.1924C>G (p.Pro642Ala) n.2075C>G c.1921C>G (p.Pro641Ala) c.2095C>G (p.Pro699Ala) | |
| 7 | g.41972342G= | CA1702647620 | GLI3 | c.2098C= (p.Pro700=) c.1924C= (p.Pro642=) n.2075C= c.1921C= (p.Pro641=) c.2095C= (p.Pro699=) | |
| 7 | g.41972342G>T | CA367321822 | GLI3 | c.2098C>A (p.Pro700Thr) c.1924C>A (p.Pro642Thr) n.2075C>A c.1921C>A (p.Pro641Thr) c.2095C>A (p.Pro699Thr) | |
| 7 | g.41972343C>A | CA367321824 | GLI3 | c.2097G>T (p.Lys699Asn) c.1923G>T (p.Lys641Asn) n.2074G>T c.1920G>T (p.Lys640Asn) c.2094G>T (p.Lys698Asn) | dbSNP |
| 7 | g.41972343C= | CA1702647629 | GLI3 | c.2097G= (p.Lys699=) c.1923G= (p.Lys641=) n.2074G= c.1920G= (p.Lys640=) c.2094G= (p.Lys698=) | |
| 7 | g.41972343C>G | CA367321825 | GLI3 | c.2097G>C (p.Lys699Asn) c.1923G>C (p.Lys641Asn) n.2074G>C c.1920G>C (p.Lys640Asn) c.2094G>C (p.Lys698Asn) | |
| 7 | g.41972343C>T | CA454525393 | GLI3 | c.2097G>A (p.Lys699=) c.1923G>A (p.Lys641=) n.2074G>A c.1920G>A (p.Lys640=) c.2094G>A (p.Lys698=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41972344T>A | CA367321826 | GLI3 | c.2096A>T (p.Lys699Met) c.1922A>T (p.Lys641Met) n.2073A>T c.1919A>T (p.Lys640Met) c.2093A>T (p.Lys698Met) | |
| 7 | g.41972344T>C | CA367321827 | GLI3 | c.2096A>G (p.Lys699Arg) c.1922A>G (p.Lys641Arg) n.2073A>G c.1919A>G (p.Lys640Arg) c.2093A>G (p.Lys698Arg) | |
| 7 | g.41972344T>G | CA367321828 | GLI3 | c.2096A>C (p.Lys699Thr) c.1922A>C (p.Lys641Thr) n.2073A>C c.1919A>C (p.Lys640Thr) c.2093A>C (p.Lys698Thr) | |
| 7 | g.41972345T>A | CA367321829 | GLI3 | c.2095A>T (p.Lys699Ter) c.1921A>T (p.Lys641Ter) n.2072A>T c.1918A>T (p.Lys640Ter) c.2092A>T (p.Lys698Ter) | |
| 7 | g.41972345T>C | CA367321830 | GLI3 | c.2095A>G (p.Lys699Glu) c.1921A>G (p.Lys641Glu) n.2072A>G c.1918A>G (p.Lys640Glu) c.2092A>G (p.Lys698Glu) | |
| 7 | g.41972345T>G | CA367321831 | GLI3 | c.2095A>C (p.Lys699Gln) c.1921A>C (p.Lys641Gln) n.2072A>C c.1918A>C (p.Lys640Gln) c.2092A>C (p.Lys698Gln) | |
| 7 | g.41972346C>A | CA367321832 | GLI3 | c.2094G>T (p.Glu698Asp) c.1920G>T (p.Glu640Asp) n.2071G>T c.1917G>T (p.Glu639Asp) c.2091G>T (p.Glu697Asp) | |
| 7 | g.41972346C= | CA1702647636 | GLI3 | c.2094G= (p.Glu698=) c.1920G= (p.Glu640=) n.2071G= c.1917G= (p.Glu639=) c.2091G= (p.Glu697=) | |
| 7 | g.41972346C>G | CA367321833 | GLI3 | c.2094G>C (p.Glu698Asp) c.1920G>C (p.Glu640Asp) n.2071G>C c.1917G>C (p.Glu639Asp) c.2091G>C (p.Glu697Asp) | |
| 7 | g.41972346C>T | CA4230692 | GLI3 | c.2094G>A (p.Glu698=) c.1920G>A (p.Glu640=) n.2071G>A c.1917G>A (p.Glu639=) c.2091G>A (p.Glu697=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41972347T>A | CA367321834 | GLI3 | c.2093A>T (p.Glu698Val) c.1919A>T (p.Glu640Val) n.2070A>T c.1916A>T (p.Glu639Val) c.2090A>T (p.Glu697Val) | |
| 7 | g.41972347T>C | CA367321835 | GLI3 | c.2093A>G (p.Glu698Gly) c.1919A>G (p.Glu640Gly) n.2070A>G c.1916A>G (p.Glu639Gly) c.2090A>G (p.Glu697Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41972347T>G | CA367321836 | GLI3 | c.2093A>C (p.Glu698Ala) c.1919A>C (p.Glu640Ala) n.2070A>C c.1916A>C (p.Glu639Ala) c.2090A>C (p.Glu697Ala) | |
| 7 | g.41972347T= | CA1702647637 | GLI3 | c.2093A= (p.Glu698=) c.1919A= (p.Glu640=) n.2070A= c.1916A= (p.Glu639=) c.2090A= (p.Glu697=) | |
| 7 | g.41972348C>A | CA367321839 | GLI3 | c.2092G>T (p.Glu698Ter) c.1918G>T (p.Glu640Ter) n.2069G>T c.1915G>T (p.Glu639Ter) c.2089G>T (p.Glu697Ter) | |
| 7 | g.41972348C>G | CA367321837 | GLI3 | c.2092G>C (p.Glu698Gln) c.1918G>C (p.Glu640Gln) n.2069G>C c.1915G>C (p.Glu639Gln) c.2089G>C (p.Glu697Gln) | |
| 7 | g.41972348C>T | CA367321838 | GLI3 | c.2092G>A (p.Glu698Lys) c.1918G>A (p.Glu640Lys) n.2069G>A c.1915G>A (p.Glu639Lys) c.2089G>A (p.Glu697Lys) | |
| 7 | g.41972349T>A | CA454525400 | GLI3 | c.2091A>T (p.Ala697=) c.1917A>T (p.Ala639=) n.2068A>T c.1914A>T (p.Ala638=) c.2088A>T (p.Ala696=) | |
| 7 | g.41972349T>C | CA454525401 | GLI3 | c.2091A>G (p.Ala697=) c.1917A>G (p.Ala639=) n.2068A>G c.1914A>G (p.Ala638=) c.2088A>G (p.Ala696=) | |
| 7 | g.41972349T>G | CA454525402 | GLI3 | c.2091A>C (p.Ala697=) c.1917A>C (p.Ala639=) n.2068A>C c.1914A>C (p.Ala638=) c.2088A>C (p.Ala696=) | |
| 7 | g.41972350del | CA2499218887 | GLI3 | c.2090del (p.Ala697GlufsTer5) c.1916del (p.Ala639GlufsTer5) n.2067del c.1913del (p.Ala638GlufsTer5) c.2087del (p.Ala696GlufsTer5) | ClinVar dbSNP |
| 7 | g.41972350G>A | CA367321840 | GLI3 | c.2090C>T (p.Ala697Val) c.1916C>T (p.Ala639Val) n.2067C>T c.1913C>T (p.Ala638Val) c.2087C>T (p.Ala696Val) | dbSNP gnomAD v4 |
| 7 | g.41972350G>C | CA367321841 | GLI3 | c.2090C>G (p.Ala697Gly) c.1916C>G (p.Ala639Gly) n.2067C>G c.1913C>G (p.Ala638Gly) c.2087C>G (p.Ala696Gly) | |
| 7 | g.41972350G= | CA1702647640 | GLI3 | c.2090C= (p.Ala697=) c.1916C= (p.Ala639=) n.2067C= c.1913C= (p.Ala638=) c.2087C= (p.Ala696=) | |
| 7 | g.41972350G>T | CA367321842 | GLI3 | c.2090C>A (p.Ala697Glu) c.1916C>A (p.Ala639Glu) n.2067C>A c.1913C>A (p.Ala638Glu) c.2087C>A (p.Ala696Glu) | |
| 7 | g.41972351C>A | CA367321843 | GLI3 | c.2089G>T (p.Ala697Ser) c.1915G>T (p.Ala639Ser) n.2066G>T c.1912G>T (p.Ala638Ser) c.2086G>T (p.Ala696Ser) | |
| 7 | g.41972351C>G | CA367321844 | GLI3 | c.2089G>C (p.Ala697Pro) c.1915G>C (p.Ala639Pro) n.2066G>C c.1912G>C (p.Ala638Pro) c.2086G>C (p.Ala696Pro) | |
| 7 | g.41972351C>T | CA367321845 | GLI3 | c.2089G>A (p.Ala697Thr) c.1915G>A (p.Ala639Thr) n.2066G>A c.1912G>A (p.Ala638Thr) c.2086G>A (p.Ala696Thr) | |
| 7 | g.41972352C>A | CA367321846 | GLI3 | c.2088G>T (p.Lys696Asn) c.1914G>T (p.Lys638Asn) n.2065G>T c.1911G>T (p.Lys637Asn) c.2085G>T (p.Lys695Asn) | |
| 7 | g.41972352C>G | CA367321847 | GLI3 | c.2088G>C (p.Lys696Asn) c.1914G>C (p.Lys638Asn) n.2065G>C c.1911G>C (p.Lys637Asn) c.2085G>C (p.Lys695Asn) | |
| 7 | g.41972352C>T | CA454525407 | GLI3 | c.2088G>A (p.Lys696=) c.1914G>A (p.Lys638=) n.2065G>A c.1911G>A (p.Lys637=) c.2085G>A (p.Lys695=) | |
| 7 | g.41972353T>A | CA367321848 | GLI3 | c.2087A>T (p.Lys696Met) c.1913A>T (p.Lys638Met) n.2064A>T c.1910A>T (p.Lys637Met) c.2084A>T (p.Lys695Met) | |
| 7 | g.41972353T>C | CA367321849 | GLI3 | c.2087A>G (p.Lys696Arg) c.1913A>G (p.Lys638Arg) n.2064A>G c.1910A>G (p.Lys637Arg) c.2084A>G (p.Lys695Arg) | |
| 7 | g.41972353T>G | CA367321850 | GLI3 | c.2087A>C (p.Lys696Thr) c.1913A>C (p.Lys638Thr) n.2064A>C c.1910A>C (p.Lys637Thr) c.2084A>C (p.Lys695Thr) | |
| 7 | g.41972354T>A | CA367321852 | GLI3 | c.2086A>T (p.Lys696Ter) c.1912A>T (p.Lys638Ter) n.2063A>T c.1909A>T (p.Lys637Ter) c.2083A>T (p.Lys695Ter) | |
| 7 | g.41972354T>C | CA367321851 | GLI3 | c.2086A>G (p.Lys696Glu) c.1912A>G (p.Lys638Glu) n.2063A>G c.1909A>G (p.Lys637Glu) c.2083A>G (p.Lys695Glu) | gnomAD v4 |
| 7 | g.41972354T>G | CA4230693 | GLI3 | c.2086A>C (p.Lys696Gln) c.1912A>C (p.Lys638Gln) n.2063A>C c.1909A>C (p.Lys637Gln) c.2083A>C (p.Lys695Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41972354T= | CA1702647643 | GLI3 | c.2086A= (p.Lys696=) c.1912A= (p.Lys638=) n.2063A= c.1909A= (p.Lys637=) c.2083A= (p.Lys695=) |