Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
7 | g.41972355G>A | CA454525413 | GLI3 | c.2085C>T (p.Val695=) c.1911C>T (p.Val637=) n.2062C>T c.1908C>T (p.Val636=) c.2082C>T (p.Val694=) | |
7 | g.41972355G>C | CA454525415 | GLI3 | c.2085C>G (p.Val695=) c.1911C>G (p.Val637=) n.2062C>G c.1908C>G (p.Val636=) c.2082C>G (p.Val694=) | gnomAD v4 |
7 | g.41972355G= | CA1702647646 | GLI3 | c.2085C= (p.Val695=) c.1911C= (p.Val637=) n.2062C= c.1908C= (p.Val636=) c.2082C= (p.Val694=) | |
7 | g.41972355G>T | CA454525418 | GLI3 | c.2085C>A (p.Val695=) c.1911C>A (p.Val637=) n.2062C>A c.1908C>A (p.Val636=) c.2082C>A (p.Val694=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.41972356A>C | CA367321853 | GLI3 | c.2084T>G (p.Val695Gly) c.1910T>G (p.Val637Gly) n.2061T>G c.1907T>G (p.Val636Gly) c.2081T>G (p.Val694Gly) | |
7 | g.41972356A>G | CA367321854 | GLI3 | c.2084T>C (p.Val695Ala) c.1910T>C (p.Val637Ala) n.2061T>C c.1907T>C (p.Val636Ala) c.2081T>C (p.Val694Ala) | |
7 | g.41972356A>T | CA367321855 | GLI3 | c.2084T>A (p.Val695Asp) c.1910T>A (p.Val637Asp) n.2061T>A c.1907T>A (p.Val636Asp) c.2081T>A (p.Val694Asp) | |
7 | g.41972357C>A | CA156913583 | GLI3 | c.2083G>T (p.Val695Phe) c.1909G>T (p.Val637Phe) n.2060G>T c.1906G>T (p.Val636Phe) c.2080G>T (p.Val694Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41972357C= | CA1702647650 | GLI3 | c.2083G= (p.Val695=) c.1909G= (p.Val637=) n.2060G= c.1906G= (p.Val636=) c.2080G= (p.Val694=) | |
7 | g.41972357C>G | CA367321856 | GLI3 | c.2083G>C (p.Val695Leu) c.1909G>C (p.Val637Leu) n.2060G>C c.1906G>C (p.Val636Leu) c.2080G>C (p.Val694Leu) | dbSNP |
7 | g.41972357C>T | CA4230694 | GLI3 | c.2083G>A (p.Val695Ile) c.1909G>A (p.Val637Ile) n.2060G>A c.1906G>A (p.Val636Ile) c.2080G>A (p.Val694Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.41972357_41972358delinsGGCTTCTCT | CA2695207655 | GLI3 | c.2082_2083delinsAGAGAAGCC (p.Val695GlufsTer?) c.1908_1909delinsAGAGAAGCC (p.Val637GlufsTer?) n.2059_2060delinsAGAGAAGCC c.1905_1906delinsAGAGAAGCC (p.Val636GlufsTer?) c.2079_2080delinsAGAGAAGCC (p.Val694GlufsTer?) | |
7 | g.41972358G>A | CA4230695 | GLI3 | c.2082C>T (p.Thr694=) c.1908C>T (p.Thr636=) n.2059C>T c.1905C>T (p.Thr635=) c.2079C>T (p.Thr693=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.41972358G>C | CA454525424 | GLI3 | c.2082C>G (p.Thr694=) c.1908C>G (p.Thr636=) n.2059C>G c.1905C>G (p.Thr635=) c.2079C>G (p.Thr693=) | |
7 | g.41972358G= | CA1702647655 | GLI3 | c.2082C= (p.Thr694=) c.1908C= (p.Thr636=) n.2059C= c.1905C= (p.Thr635=) c.2079C= (p.Thr693=) | |
7 | g.41972358G>T | CA454525425 | GLI3 | c.2082C>A (p.Thr694=) c.1908C>A (p.Thr636=) n.2059C>A c.1905C>A (p.Thr635=) c.2079C>A (p.Thr693=) | gnomAD v4 |
7 | g.41972359G>A | CA367321857 | GLI3 | c.2081C>T (p.Thr694Ile) c.1907C>T (p.Thr636Ile) n.2058C>T c.1904C>T (p.Thr635Ile) c.2078C>T (p.Thr693Ile) | |
7 | g.41972359G>C | CA367321858 | GLI3 | c.2081C>G (p.Thr694Ser) c.1907C>G (p.Thr636Ser) n.2058C>G c.1904C>G (p.Thr635Ser) c.2078C>G (p.Thr693Ser) | |
7 | g.41972359G>T | CA367321859 | GLI3 | c.2081C>A (p.Thr694Asn) c.1907C>A (p.Thr636Asn) n.2058C>A c.1904C>A (p.Thr635Asn) c.2078C>A (p.Thr693Asn) | |
7 | g.41972360T>A | CA367321860 | GLI3 | c.2080A>T (p.Thr694Ser) c.1906A>T (p.Thr636Ser) n.2057A>T c.1903A>T (p.Thr635Ser) c.2077A>T (p.Thr693Ser) | COSMIC |
7 | g.41972360T>C | CA367321861 | GLI3 | c.2080A>G (p.Thr694Ala) c.1906A>G (p.Thr636Ala) n.2057A>G c.1903A>G (p.Thr635Ala) c.2077A>G (p.Thr693Ala) | |
7 | g.41972360T>G | CA367321862 | GLI3 | c.2080A>C (p.Thr694Pro) c.1906A>C (p.Thr636Pro) n.2057A>C c.1903A>C (p.Thr635Pro) c.2077A>C (p.Thr693Pro) | dbSNP |
7 | g.41972360T= | CA1702647659 | GLI3 | c.2080A= (p.Thr694=) c.1906A= (p.Thr636=) n.2057A= c.1903A= (p.Thr635=) c.2077A= (p.Thr693=) | |
7 | g.41972363del | CA2695207656 | GLI3 | c.2080del (p.Thr694ProfsTer8) c.1906del (p.Thr636ProfsTer8) n.2057del c.1903del (p.Thr635ProfsTer8) c.2077del (p.Thr693ProfsTer8) | |
7 | g.41972361T>A | CA367321864 | GLI3 | c.2079A>T (p.Lys693Asn) c.1905A>T (p.Lys635Asn) n.2056A>T c.1902A>T (p.Lys634Asn) c.2076A>T (p.Lys692Asn) | |
7 | g.41972361T>C | CA4230696 | GLI3 | c.2079A>G (p.Lys693=) c.1905A>G (p.Lys635=) n.2056A>G c.1902A>G (p.Lys634=) c.2076A>G (p.Lys692=) | dbSNP ExAC gnomAD v2 |
7 | g.41972361T>G | CA367321863 | GLI3 | c.2079A>C (p.Lys693Asn) c.1905A>C (p.Lys635Asn) n.2056A>C c.1902A>C (p.Lys634Asn) c.2076A>C (p.Lys692Asn) | |
7 | g.41972361T= | CA1702647661 | GLI3 | c.2079A= (p.Lys693=) c.1905A= (p.Lys635=) n.2056A= c.1902A= (p.Lys634=) c.2076A= (p.Lys692=) | |
7 | g.41972362T>A | CA367321865 | GLI3 | c.2078A>T (p.Lys693Ile) c.1904A>T (p.Lys635Ile) n.2055A>T c.1901A>T (p.Lys634Ile) c.2075A>T (p.Lys692Ile) | |
7 | g.41972362T>C | CA367321866 | GLI3 | c.2078A>G (p.Lys693Arg) c.1904A>G (p.Lys635Arg) n.2055A>G c.1901A>G (p.Lys634Arg) c.2075A>G (p.Lys692Arg) | |
7 | g.41972362T>G | CA367321867 | GLI3 | c.2078A>C (p.Lys693Thr) c.1904A>C (p.Lys635Thr) n.2055A>C c.1901A>C (p.Lys634Thr) c.2075A>C (p.Lys692Thr) | |
7 | g.41972363T>A | CA367321868 | GLI3 | c.2077A>T (p.Lys693Ter) c.1903A>T (p.Lys635Ter) n.2054A>T c.1900A>T (p.Lys634Ter) c.2074A>T (p.Lys692Ter) | |
7 | g.41972363T>C | CA367321869 | GLI3 | c.2077A>G (p.Lys693Glu) c.1903A>G (p.Lys635Glu) n.2054A>G c.1900A>G (p.Lys634Glu) c.2074A>G (p.Lys692Glu) | |
7 | g.41972363T>G | CA367321870 | GLI3 | c.2077A>C (p.Lys693Gln) c.1903A>C (p.Lys635Gln) n.2054A>C c.1900A>C (p.Lys634Gln) c.2074A>C (p.Lys692Gln) | |
7 | g.41972364C>A | CA454525441 | GLI3 | c.2076G>T (p.Val692=) c.1902G>T (p.Val634=) n.2053G>T c.1899G>T (p.Val633=) c.2073G>T (p.Val691=) | |
7 | g.41972364C>G | CA454525442 | GLI3 | c.2076G>C (p.Val692=) c.1902G>C (p.Val634=) n.2053G>C c.1899G>C (p.Val633=) c.2073G>C (p.Val691=) | |
7 | g.41972364C>T | CA454525443 | GLI3 | c.2076G>A (p.Val692=) c.1902G>A (p.Val634=) n.2053G>A c.1899G>A (p.Val633=) c.2073G>A (p.Val691=) | |
7 | g.41972365A>C | CA367321871 | GLI3 | c.2075T>G (p.Val692Gly) c.1901T>G (p.Val634Gly) n.2052T>G c.1898T>G (p.Val633Gly) c.2072T>G (p.Val691Gly) | |
7 | g.41972365A>G | CA367321872 | GLI3 | c.2075T>C (p.Val692Ala) c.1901T>C (p.Val634Ala) n.2052T>C c.1898T>C (p.Val633Ala) c.2072T>C (p.Val691Ala) | |
7 | g.41972365A>T | CA367321873 | GLI3 | c.2075T>A (p.Val692Glu) c.1901T>A (p.Val634Glu) n.2052T>A c.1898T>A (p.Val633Glu) c.2072T>A (p.Val691Glu) | |
7 | g.41972366C>A | CA367321874 | GLI3 | c.2074G>T (p.Val692Leu) c.1900G>T (p.Val634Leu) n.2051G>T c.1897G>T (p.Val633Leu) c.2071G>T (p.Val691Leu) | |
7 | g.41972366C>G | CA367321875 | GLI3 | c.2074G>C (p.Val692Leu) c.1900G>C (p.Val634Leu) n.2051G>C c.1897G>C (p.Val633Leu) c.2071G>C (p.Val691Leu) | |
7 | g.41972366C>T | CA367321876 | GLI3 | c.2074G>A (p.Val692Met) c.1900G>A (p.Val634Met) n.2051G>A c.1897G>A (p.Val633Met) c.2071G>A (p.Val691Met) | gnomAD v4 |
7 | g.41972367C>A | CA4230697 | GLI3 | c.2073G>T (p.Gln691His) c.1899G>T (p.Gln633His) n.2050G>T c.1896G>T (p.Gln632His) c.2070G>T (p.Gln690His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41972367C= | CA1702647666 | GLI3 | c.2073G= (p.Gln691=) c.1899G= (p.Gln633=) n.2050G= c.1896G= (p.Gln632=) c.2070G= (p.Gln690=) | |
7 | g.41972367C>G | CA367321877 | GLI3 | c.2073G>C (p.Gln691His) c.1899G>C (p.Gln633His) n.2050G>C c.1896G>C (p.Gln632His) c.2070G>C (p.Gln690His) | |
7 | g.41972367C>T | CA454525452 | GLI3 | c.2073G>A (p.Gln691=) c.1899G>A (p.Gln633=) n.2050G>A c.1896G>A (p.Gln632=) c.2070G>A (p.Gln690=) | |
7 | g.41972368del | CA2695207658 | GLI3 | c.2072del (p.Gln691ArgfsTer2) c.1898del (p.Gln633ArgfsTer2) n.2049del c.1895del (p.Gln632ArgfsTer2) c.2069del (p.Gln690ArgfsTer2) | |
7 | g.41972368T>A | CA367321878 | GLI3 | c.2072A>T (p.Gln691Leu) c.1898A>T (p.Gln633Leu) n.2049A>T c.1895A>T (p.Gln632Leu) c.2069A>T (p.Gln690Leu) | |
7 | g.41972368T>C | CA4230698 | GLI3 | c.2072A>G (p.Gln691Arg) c.1898A>G (p.Gln633Arg) n.2049A>G c.1895A>G (p.Gln632Arg) c.2069A>G (p.Gln690Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.41972368T>G | CA367321879 | GLI3 | c.2072A>C (p.Gln691Pro) c.1898A>C (p.Gln633Pro) n.2049A>C c.1895A>C (p.Gln632Pro) c.2069A>C (p.Gln690Pro) | |
7 | g.41972368T= | CA1702647671 | GLI3 | c.2072A= (p.Gln691=) c.1898A= (p.Gln633=) n.2049A= c.1895A= (p.Gln632=) c.2069A= (p.Gln690=) | |
7 | g.41972369G>A | CA367321880 | GLI3 | c.2071C>T (p.Gln691Ter) c.1897C>T (p.Gln633Ter) n.2048C>T c.1894C>T (p.Gln632Ter) c.2068C>T (p.Gln690Ter) | ClinVar dbSNP |
7 | g.41972369G>C | CA367321882 | GLI3 | c.2071C>G (p.Gln691Glu) c.1897C>G (p.Gln633Glu) n.2048C>G c.1894C>G (p.Gln632Glu) c.2068C>G (p.Gln690Glu) | |
7 | g.41972369G= | CA1702647674 | GLI3 | c.2071C= (p.Gln691=) c.1897C= (p.Gln633=) n.2048C= c.1894C= (p.Gln632=) c.2068C= (p.Gln690=) | |
7 | g.41972369G>T | CA367321881 | GLI3 | c.2071C>A (p.Gln691Lys) c.1897C>A (p.Gln633Lys) n.2048C>A c.1894C>A (p.Gln632Lys) c.2068C>A (p.Gln690Lys) | |
7 | g.41972370G>A | CA454525458 | GLI3 | c.2070C>T (p.Leu690=) c.1896C>T (p.Leu632=) n.2047C>T c.1893C>T (p.Leu631=) c.2067C>T (p.Leu689=) | gnomAD v4 |
7 | g.41972370G>C | CA454525459 | GLI3 | c.2070C>G (p.Leu690=) c.1896C>G (p.Leu632=) n.2047C>G c.1893C>G (p.Leu631=) c.2067C>G (p.Leu689=) | |
7 | g.41972370G>T | CA454525460 | GLI3 | c.2070C>A (p.Leu690=) c.1896C>A (p.Leu632=) n.2047C>A c.1893C>A (p.Leu631=) c.2067C>A (p.Leu689=) | |
7 | g.41972371A>C | CA367321883 | GLI3 | c.2069T>G (p.Leu690Arg) c.1895T>G (p.Leu632Arg) n.2046T>G c.1892T>G (p.Leu631Arg) c.2066T>G (p.Leu689Arg) | |
7 | g.41972371A>G | CA367321884 | GLI3 | c.2069T>C (p.Leu690Pro) c.1895T>C (p.Leu632Pro) n.2046T>C c.1892T>C (p.Leu631Pro) c.2066T>C (p.Leu689Pro) | |
7 | g.41972371A>T | CA367321885 | GLI3 | c.2069T>A (p.Leu690His) c.1895T>A (p.Leu632His) n.2046T>A c.1892T>A (p.Leu631His) c.2066T>A (p.Leu689His) | |
7 | g.41972372G>A | CA367321886 | GLI3 | c.2068C>T (p.Leu690Phe) c.1894C>T (p.Leu632Phe) n.2045C>T c.1891C>T (p.Leu631Phe) c.2065C>T (p.Leu689Phe) | gnomAD v4 |
7 | g.41972372G>C | CA367321887 | GLI3 | c.2068C>G (p.Leu690Val) c.1894C>G (p.Leu632Val) n.2045C>G c.1891C>G (p.Leu631Val) c.2065C>G (p.Leu689Val) | |
7 | g.41972372G>T | CA367321888 | GLI3 | c.2068C>A (p.Leu690Ile) c.1894C>A (p.Leu632Ile) n.2045C>A c.1891C>A (p.Leu631Ile) c.2065C>A (p.Leu689Ile) | |
7 | g.41972373G>A | CA454525473 | GLI3 | c.2067C>T (p.Cys689=) c.1893C>T (p.Cys631=) n.2044C>T c.1890C>T (p.Cys630=) c.2064C>T (p.Cys688=) | COSMIC |
7 | g.41972373G>C | CA367321889 | GLI3 | c.2067C>G (p.Cys689Trp) c.1893C>G (p.Cys631Trp) n.2044C>G c.1890C>G (p.Cys630Trp) c.2064C>G (p.Cys688Trp) | |
7 | g.41972373G>T | CA367321890 | GLI3 | c.2067C>A (p.Cys689Ter) c.1893C>A (p.Cys631Ter) n.2044C>A c.1890C>A (p.Cys630Ter) c.2064C>A (p.Cys688Ter) | |
7 | g.41972374C>A | CA367321891 | GLI3 | c.2066G>T (p.Cys689Phe) c.1892G>T (p.Cys631Phe) n.2043G>T c.1889G>T (p.Cys630Phe) c.2063G>T (p.Cys688Phe) | |
7 | g.41972374C>G | CA367321892 | GLI3 | c.2066G>C (p.Cys689Ser) c.1892G>C (p.Cys631Ser) n.2043G>C c.1889G>C (p.Cys630Ser) c.2063G>C (p.Cys688Ser) | gnomAD v4 |
7 | g.41972374C>T | CA367321893 | GLI3 | c.2066G>A (p.Cys689Tyr) c.1892G>A (p.Cys631Tyr) n.2043G>A c.1889G>A (p.Cys630Tyr) c.2063G>A (p.Cys688Tyr) | |
7 | g.41972375A>C | CA367321896 | GLI3 | c.2065T>G (p.Cys689Gly) c.1891T>G (p.Cys631Gly) n.2042T>G c.1888T>G (p.Cys630Gly) c.2062T>G (p.Cys688Gly) | |
7 | g.41972375A>G | CA367321894 | GLI3 | c.2065T>C (p.Cys689Arg) c.1891T>C (p.Cys631Arg) n.2042T>C c.1888T>C (p.Cys630Arg) c.2062T>C (p.Cys688Arg) | |
7 | g.41972375A>T | CA367321895 | GLI3 | c.2065T>A (p.Cys689Ser) c.1891T>A (p.Cys631Ser) n.2042T>A c.1888T>A (p.Cys630Ser) c.2062T>A (p.Cys688Ser) | |
7 | g.41972376T>A | CA367321897 | GLI3 | c.2064A>T (p.Glu688Asp) c.1890A>T (p.Glu630Asp) n.2041A>T c.1887A>T (p.Glu629Asp) c.2061A>T (p.Glu687Asp) | |
7 | g.41972376T>C | CA454525476 | GLI3 | c.2064A>G (p.Glu688=) c.1890A>G (p.Glu630=) n.2041A>G c.1887A>G (p.Glu629=) c.2061A>G (p.Glu687=) | |
7 | g.41972376T>G | CA367321898 | GLI3 | c.2064A>C (p.Glu688Asp) c.1890A>C (p.Glu630Asp) n.2041A>C c.1887A>C (p.Glu629Asp) c.2061A>C (p.Glu687Asp) | |
7 | g.41972377T>A | CA367321899 | GLI3 | c.2063A>T (p.Glu688Val) c.1889A>T (p.Glu630Val) n.2040A>T c.1886A>T (p.Glu629Val) c.2060A>T (p.Glu687Val) | |
7 | g.41972377T>C | CA367321900 | GLI3 | c.2063A>G (p.Glu688Gly) c.1889A>G (p.Glu630Gly) n.2040A>G c.1886A>G (p.Glu629Gly) c.2060A>G (p.Glu687Gly) | |
7 | g.41972377T>G | CA367321901 | GLI3 | c.2063A>C (p.Glu688Ala) c.1889A>C (p.Glu630Ala) n.2040A>C c.1886A>C (p.Glu629Ala) c.2060A>C (p.Glu687Ala) | |
7 | g.41972378C>A | CA342916 | GLI3 | c.2062G>T (p.Glu688Ter) c.1888G>T (p.Glu630Ter) n.2039G>T c.1885G>T (p.Glu629Ter) c.2059G>T (p.Glu687Ter) | dbSNP |
7 | g.41972378C= | CA1702647682 | GLI3 | c.2062G= (p.Glu688=) c.1888G= (p.Glu630=) n.2039G= c.1885G= (p.Glu629=) c.2059G= (p.Glu687=) | |
7 | g.41972378C>G | CA367321902 | GLI3 | c.2062G>C (p.Glu688Gln) c.1888G>C (p.Glu630Gln) n.2039G>C c.1885G>C (p.Glu629Gln) c.2059G>C (p.Glu687Gln) | |
7 | g.41972378C>T | CA367321903 | GLI3 | c.2062G>A (p.Glu688Lys) c.1888G>A (p.Glu630Lys) n.2039G>A c.1885G>A (p.Glu629Lys) c.2059G>A (p.Glu687Lys) | |
7 | g.41972379T>A | CA367321904 | GLI3 | c.2061A>T (p.Glu687Asp) c.1887A>T (p.Glu629Asp) n.2038A>T c.1884A>T (p.Glu628Asp) c.2058A>T (p.Glu686Asp) | |
7 | g.41972379T>C | CA454525490 | GLI3 | c.2061A>G (p.Glu687=) c.1887A>G (p.Glu629=) n.2038A>G c.1884A>G (p.Glu628=) c.2058A>G (p.Glu686=) | |
7 | g.41972379T>G | CA367321905 | GLI3 | c.2061A>C (p.Glu687Asp) c.1887A>C (p.Glu629Asp) n.2038A>C c.1884A>C (p.Glu628Asp) c.2058A>C (p.Glu686Asp) | |
7 | g.41972380T>A | CA367321908 | GLI3 | c.2060A>T (p.Glu687Val) c.1886A>T (p.Glu629Val) n.2037A>T c.1883A>T (p.Glu628Val) c.2057A>T (p.Glu686Val) | |
7 | g.41972380T>C | CA367321907 | GLI3 | c.2060A>G (p.Glu687Gly) c.1886A>G (p.Glu629Gly) n.2037A>G c.1883A>G (p.Glu628Gly) c.2057A>G (p.Glu686Gly) | |
7 | g.41972380T>G | CA367321906 | GLI3 | c.2060A>C (p.Glu687Ala) c.1886A>C (p.Glu629Ala) n.2037A>C c.1883A>C (p.Glu628Ala) c.2057A>C (p.Glu686Ala) | |
7 | g.41972381C>A | CA367321909 | GLI3 | c.2059G>T (p.Glu687Ter) c.1885G>T (p.Glu629Ter) n.2036G>T c.1882G>T (p.Glu628Ter) c.2056G>T (p.Glu686Ter) | |
7 | g.41972381C>G | CA367321910 | GLI3 | c.2059G>C (p.Glu687Gln) c.1885G>C (p.Glu629Gln) n.2036G>C c.1882G>C (p.Glu628Gln) c.2056G>C (p.Glu686Gln) | |
7 | g.41972381C>T | CA367321911 | GLI3 | c.2059G>A (p.Glu687Lys) c.1885G>A (p.Glu629Lys) n.2036G>A c.1882G>A (p.Glu628Lys) c.2056G>A (p.Glu686Lys) | |
7 | g.41972381_41972382delinsAT | CA342914 | GLI3 | c.2058_2059delinsAT (p.Arg687Ter) c.1884_1885delinsAT (p.Arg629Ter) n.2035_2036delinsAT c.1881_1882delinsAT (p.Arg628Ter) c.2055_2056delinsAT (p.Arg686Ter) | dbSNP |
7 | g.41972381_41972382delinsCC | CA1702647690 | GLI3 | c.2058_2059delinsGG (p.Arg686=) c.1884_1885delinsGG (p.Arg628=) n.2035_2036delinsGG c.1881_1882delinsGG (p.Arg627=) c.2055_2056delinsGG (p.Arg685=) | |
7 | g.41972383del | CA2499218888 | GLI3 | c.2059del (p.Glu687LysfsTer6) c.1885del (p.Glu629LysfsTer6) n.2036del c.1882del (p.Glu628LysfsTer6) c.2056del (p.Glu686LysfsTer6) | ClinVar dbSNP |
7 | g.41972382C>A | CA454525493 | GLI3 | c.2058G>T (p.Arg686=) c.1884G>T (p.Arg628=) n.2035G>T c.1881G>T (p.Arg627=) c.2055G>T (p.Arg685=) | |
7 | g.41972382C= | CA1702647695 | GLI3 | c.2058G= (p.Arg686=) c.1884G= (p.Arg628=) n.2035G= c.1881G= (p.Arg627=) c.2055G= (p.Arg685=) | |
7 | g.41972382C>G | CA454525495 | GLI3 | c.2058G>C (p.Arg686=) c.1884G>C (p.Arg628=) n.2035G>C c.1881G>C (p.Arg627=) c.2055G>C (p.Arg685=) | gnomAD v4 |
7 | g.41972382C>T | CA454525496 | GLI3 | c.2058G>A (p.Arg686=) c.1884G>A (p.Arg628=) n.2035G>A c.1881G>A (p.Arg627=) c.2055G>A (p.Arg685=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41972383C>A | CA367321912 | GLI3 | c.2057G>T (p.Arg686Leu) c.1883G>T (p.Arg628Leu) n.2034G>T c.1880G>T (p.Arg627Leu) c.2054G>T (p.Arg685Leu) | |
7 | g.41972383C= | CA1702647698 | GLI3 | c.2057G= (p.Arg686=) c.1883G= (p.Arg628=) n.2034G= c.1880G= (p.Arg627=) c.2054G= (p.Arg685=) | |
7 | g.41972383C>G | CA367321913 | GLI3 | c.2057G>C (p.Arg686Pro) c.1883G>C (p.Arg628Pro) n.2034G>C c.1880G>C (p.Arg627Pro) c.2054G>C (p.Arg685Pro) | |
7 | g.41972383C>T | CA4230699 | GLI3 | c.2057G>A (p.Arg686Gln) c.1883G>A (p.Arg628Gln) n.2034G>A c.1880G>A (p.Arg627Gln) c.2054G>A (p.Arg685Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41972384G>A | CA4230700 | GLI3 | c.2056C>T (p.Arg686Trp) c.1882C>T (p.Arg628Trp) n.2033C>T c.1879C>T (p.Arg627Trp) c.2053C>T (p.Arg685Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.41972384G>C | CA367321915 | GLI3 | c.2056C>G (p.Arg686Gly) c.1882C>G (p.Arg628Gly) n.2033C>G c.1879C>G (p.Arg627Gly) c.2053C>G (p.Arg685Gly) | |
7 | g.41972384G= | CA1702647702 | GLI3 | c.2056C= (p.Arg686=) c.1882C= (p.Arg628=) n.2033C= c.1879C= (p.Arg627=) c.2053C= (p.Arg685=) | |
7 | g.41972384G>T | CA454525501 | GLI3 | c.2056C>A (p.Arg686=) c.1882C>A (p.Arg628=) n.2033C>A c.1879C>A (p.Arg627=) c.2053C>A (p.Arg685=) | |
7 | g.41972385C>A | CA367321916 | GLI3 | c.2055G>T (p.Lys685Asn) c.1881G>T (p.Lys627Asn) n.2032G>T c.1878G>T (p.Lys626Asn) c.2052G>T (p.Lys684Asn) | |
7 | g.41972385C>G | CA367321917 | GLI3 | c.2055G>C (p.Lys685Asn) c.1881G>C (p.Lys627Asn) n.2032G>C c.1878G>C (p.Lys626Asn) c.2052G>C (p.Lys684Asn) | |
7 | g.41972385C>T | CA454525504 | GLI3 | c.2055G>A (p.Lys685=) c.1881G>A (p.Lys627=) n.2032G>A c.1878G>A (p.Lys626=) c.2052G>A (p.Lys684=) | |
7 | g.41972386T>A | CA4230701 | GLI3 | c.2054A>T (p.Lys685Met) c.1880A>T (p.Lys627Met) n.2031A>T c.1877A>T (p.Lys626Met) c.2051A>T (p.Lys684Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.41972386T>C | CA367321919 | GLI3 | c.2054A>G (p.Lys685Arg) c.1880A>G (p.Lys627Arg) n.2031A>G c.1877A>G (p.Lys626Arg) c.2051A>G (p.Lys684Arg) | gnomAD v4 |
7 | g.41972386T>G | CA367321918 | GLI3 | c.2054A>C (p.Lys685Thr) c.1880A>C (p.Lys627Thr) n.2031A>C c.1877A>C (p.Lys626Thr) c.2051A>C (p.Lys684Thr) | |
7 | g.41972386T= | CA1702647706 | GLI3 | c.2054A= (p.Lys685=) c.1880A= (p.Lys627=) n.2031A= c.1877A= (p.Lys626=) c.2051A= (p.Lys684=) | |
7 | g.41972388dup | CA2695207659 | GLI3 | c.2054dup (p.Arg686AlafsTer?) c.1880dup (p.Arg628AlafsTer?) n.2031dup c.1877dup (p.Arg627AlafsTer?) c.2051dup (p.Arg685AlafsTer?) | |
7 | g.41972387T>A | CA4230702 | GLI3 | c.2053A>T (p.Lys685Ter) c.1879A>T (p.Lys627Ter) n.2030A>T c.1876A>T (p.Lys626Ter) c.2050A>T (p.Lys684Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.41972387T>C | CA367321920 | GLI3 | c.2053A>G (p.Lys685Glu) c.1879A>G (p.Lys627Glu) n.2030A>G c.1876A>G (p.Lys626Glu) c.2050A>G (p.Lys684Glu) | |
7 | g.41972387T>G | CA367321921 | GLI3 | c.2053A>C (p.Lys685Gln) c.1879A>C (p.Lys627Gln) n.2030A>C c.1876A>C (p.Lys626Gln) c.2050A>C (p.Lys684Gln) | |
7 | g.41972387T= | CA1702647710 | GLI3 | c.2053A= (p.Lys685=) c.1879A= (p.Lys627=) n.2030A= c.1876A= (p.Lys626=) c.2050A= (p.Lys684=) | |
7 | g.41972388T>A | CA454525509 | GLI3 | c.2052A>T (p.Ser684=) c.1878A>T (p.Ser626=) n.2029A>T c.1875A>T (p.Ser625=) c.2049A>T (p.Ser683=) | |
7 | g.41972388T>C | CA454525508 | GLI3 | c.2052A>G (p.Ser684=) c.1878A>G (p.Ser626=) n.2029A>G c.1875A>G (p.Ser625=) c.2049A>G (p.Ser683=) | |
7 | g.41972388T>G | CA454525507 | GLI3 | c.2052A>C (p.Ser684=) c.1878A>C (p.Ser626=) n.2029A>C c.1875A>C (p.Ser625=) c.2049A>C (p.Ser683=) | gnomAD v4 |
7 | g.41972389G>A | CA367321922 | GLI3 | c.2051C>T (p.Ser684Leu) c.1877C>T (p.Ser626Leu) n.2028C>T c.1874C>T (p.Ser625Leu) c.2048C>T (p.Ser683Leu) | gnomAD v4 COSMIC |
7 | g.41972389G>C | CA367321923 | GLI3 | c.2051C>G (p.Ser684Ter) c.1877C>G (p.Ser626Ter) n.2028C>G c.1874C>G (p.Ser625Ter) c.2048C>G (p.Ser683Ter) | |
7 | g.41972389G>T | CA367321924 | GLI3 | c.2051C>A (p.Ser684Ter) c.1877C>A (p.Ser626Ter) n.2028C>A c.1874C>A (p.Ser625Ter) c.2048C>A (p.Ser683Ter) | |
7 | g.41972390A>C | CA367321925 | GLI3 | c.2050T>G (p.Ser684Ala) c.1876T>G (p.Ser626Ala) n.2027T>G c.1873T>G (p.Ser625Ala) c.2047T>G (p.Ser683Ala) | |
7 | g.41972390A>G | CA367321926 | GLI3 | c.2050T>C (p.Ser684Pro) c.1876T>C (p.Ser626Pro) n.2027T>C c.1873T>C (p.Ser625Pro) c.2047T>C (p.Ser683Pro) | |
7 | g.41972390A>T | CA367321927 | GLI3 | c.2050T>A (p.Ser684Thr) c.1876T>A (p.Ser626Thr) n.2027T>A c.1873T>A (p.Ser625Thr) c.2047T>A (p.Ser683Thr) | |
7 | g.41972391G>A | CA454525518 | GLI3 | c.2049C>T (p.Thr683=) c.1875C>T (p.Thr625=) n.2026C>T c.1872C>T (p.Thr624=) c.2046C>T (p.Thr682=) | dbSNP |
7 | g.41972391G>C | CA454525517 | GLI3 | c.2049C>G (p.Thr683=) c.1875C>G (p.Thr625=) n.2026C>G c.1872C>G (p.Thr624=) c.2046C>G (p.Thr682=) | |
7 | g.41972391G= | CA1702647713 | GLI3 | c.2049C= (p.Thr683=) c.1875C= (p.Thr625=) n.2026C= c.1872C= (p.Thr624=) c.2046C= (p.Thr682=) | |
7 | g.41972391G>T | CA454525516 | GLI3 | c.2049C>A (p.Thr683=) c.1875C>A (p.Thr625=) n.2026C>A c.1872C>A (p.Thr624=) c.2046C>A (p.Thr682=) | |
7 | g.41972392G>A | CA156913658 | GLI3 | c.2048C>T (p.Thr683Ile) c.1874C>T (p.Thr625Ile) n.2025C>T c.1871C>T (p.Thr624Ile) c.2045C>T (p.Thr682Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.41972392G>C | CA367321928 | GLI3 | c.2048C>G (p.Thr683Ser) c.1874C>G (p.Thr625Ser) n.2025C>G c.1871C>G (p.Thr624Ser) c.2045C>G (p.Thr682Ser) | |
7 | g.41972392G= | CA1702647715 | GLI3 | c.2048C= (p.Thr683=) c.1874C= (p.Thr625=) n.2025C= c.1871C= (p.Thr624=) c.2045C= (p.Thr682=) | |
7 | g.41972392G>T | CA367321929 | GLI3 | c.2048C>A (p.Thr683Asn) c.1874C>A (p.Thr625Asn) n.2025C>A c.1871C>A (p.Thr624Asn) c.2045C>A (p.Thr682Asn) | |
7 | g.41972393T>A | CA367321931 | GLI3 | c.2047A>T (p.Thr683Ser) c.1873A>T (p.Thr625Ser) n.2024A>T c.1870A>T (p.Thr624Ser) c.2044A>T (p.Thr682Ser) | |
7 | g.41972393T>C | CA367321932 | GLI3 | c.2047A>G (p.Thr683Ala) c.1873A>G (p.Thr625Ala) n.2024A>G c.1870A>G (p.Thr624Ala) c.2044A>G (p.Thr682Ala) | |
7 | g.41972393T>G | CA367321930 | GLI3 | c.2047A>C (p.Thr683Pro) c.1873A>C (p.Thr625Pro) n.2024A>C c.1870A>C (p.Thr624Pro) c.2044A>C (p.Thr682Pro) | dbSNP |
7 | g.41972393T= | CA1702647721 | GLI3 | c.2047A= (p.Thr683=) c.1873A= (p.Thr625=) n.2024A= c.1870A= (p.Thr624=) c.2044A= (p.Thr682=) | |
7 | g.41972394A= | CA1702647724 | GLI3 | c.2046T= (p.Thr682=) c.1872T= (p.Thr624=) n.2023T= c.1869T= (p.Thr623=) c.2043T= (p.Thr681=) | |
7 | g.41972394A>C | CA454525520 | GLI3 | c.2046T>G (p.Thr682=) c.1872T>G (p.Thr624=) n.2023T>G c.1869T>G (p.Thr623=) c.2043T>G (p.Thr681=) | gnomAD v4 |
7 | g.41972394A>G | CA4230703 | GLI3 | c.2046T>C (p.Thr682=) c.1872T>C (p.Thr624=) n.2023T>C c.1869T>C (p.Thr623=) c.2043T>C (p.Thr681=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.41972394A>T | CA454525524 | GLI3 | c.2046T>A (p.Thr682=) c.1872T>A (p.Thr624=) n.2023T>A c.1869T>A (p.Thr623=) c.2043T>A (p.Thr681=) | |
7 | g.41972395G>A | CA4230704 | GLI3 | c.2045C>T (p.Thr682Ile) c.1871C>T (p.Thr624Ile) n.2022C>T c.1868C>T (p.Thr623Ile) c.2042C>T (p.Thr681Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.41972395G>C | CA367321933 | GLI3 | c.2045C>G (p.Thr682Ser) c.1871C>G (p.Thr624Ser) n.2022C>G c.1868C>G (p.Thr623Ser) c.2042C>G (p.Thr681Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41972395G= | CA1702647726 | GLI3 | c.2045C= (p.Thr682=) c.1871C= (p.Thr624=) n.2022C= c.1868C= (p.Thr623=) c.2042C= (p.Thr681=) | |
7 | g.41972395G>T | CA367321934 | GLI3 | c.2045C>A (p.Thr682Asn) c.1871C>A (p.Thr624Asn) n.2022C>A c.1868C>A (p.Thr623Asn) c.2042C>A (p.Thr681Asn) | |
7 | g.41972396T>A | CA367321935 | GLI3 | c.2044A>T (p.Thr682Ser) c.1870A>T (p.Thr624Ser) n.2021A>T c.1867A>T (p.Thr623Ser) c.2041A>T (p.Thr681Ser) | |
7 | g.41972396T>C | CA4230705 | GLI3 | c.2044A>G (p.Thr682Ala) c.1870A>G (p.Thr624Ala) n.2021A>G c.1867A>G (p.Thr623Ala) c.2041A>G (p.Thr681Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41972396T>G | CA367321936 | GLI3 | c.2044A>C (p.Thr682Pro) c.1870A>C (p.Thr624Pro) n.2021A>C c.1867A>C (p.Thr623Pro) c.2041A>C (p.Thr681Pro) | |
7 | g.41972396T= | CA1702647728 | GLI3 | c.2044A= (p.Thr682=) c.1870A= (p.Thr624=) n.2021A= c.1867A= (p.Thr623=) c.2041A= (p.Thr681=) | |
7 | g.41972397G>A | CA454525526 | GLI3 | c.2043C>T (p.Asn681=) c.1869C>T (p.Asn623=) n.2020C>T c.1866C>T (p.Asn622=) c.2040C>T (p.Asn680=) | |
7 | g.41972397G>C | CA367321937 | GLI3 | c.2043C>G (p.Asn681Lys) c.1869C>G (p.Asn623Lys) n.2020C>G c.1866C>G (p.Asn622Lys) c.2040C>G (p.Asn680Lys) | |
7 | g.41972397G>T | CA367321938 | GLI3 | c.2043C>A (p.Asn681Lys) c.1869C>A (p.Asn623Lys) n.2020C>A c.1866C>A (p.Asn622Lys) c.2040C>A (p.Asn680Lys) | |
7 | g.41972398T>A | CA367321939 | GLI3 | c.2042A>T (p.Asn681Ile) c.1868A>T (p.Asn623Ile) n.2019A>T c.1865A>T (p.Asn622Ile) c.2039A>T (p.Asn680Ile) | |
7 | g.41972398T>C | CA367321940 | GLI3 | c.2042A>G (p.Asn681Ser) c.1868A>G (p.Asn623Ser) n.2019A>G c.1865A>G (p.Asn622Ser) c.2039A>G (p.Asn680Ser) | |
7 | g.41972398T>G | CA367321941 | GLI3 | c.2042A>C (p.Asn681Thr) c.1868A>C (p.Asn623Thr) n.2019A>C c.1865A>C (p.Asn622Thr) c.2039A>C (p.Asn680Thr) | gnomAD v4 |
7 | g.41972399T>A | CA367321942 | GLI3 | c.2041A>T (p.Asn681Tyr) c.1867A>T (p.Asn623Tyr) n.2018A>T c.1864A>T (p.Asn622Tyr) c.2038A>T (p.Asn680Tyr) | |
7 | g.41972399T>C | CA367321943 | GLI3 | c.2041A>G (p.Asn681Asp) c.1867A>G (p.Asn623Asp) n.2018A>G c.1864A>G (p.Asn622Asp) c.2038A>G (p.Asn680Asp) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41972399T>G | CA367321944 | GLI3 | c.2041A>C (p.Asn681His) c.1867A>C (p.Asn623His) n.2018A>C c.1864A>C (p.Asn622His) c.2038A>C (p.Asn680His) | |
7 | g.41972399T= | CA1702647731 | GLI3 | c.2041A= (p.Asn681=) c.1867A= (p.Asn623=) n.2018A= c.1864A= (p.Asn622=) c.2038A= (p.Asn680=) | |
7 | g.41972400G>A | CA454525530 | GLI3 | c.2040C>T (p.Ser680=) c.1866C>T (p.Ser622=) n.2017C>T c.1863C>T (p.Ser621=) c.2037C>T (p.Ser679=) | |
7 | g.41972400G>C | CA367321945 | GLI3 | c.2040C>G (p.Ser680Arg) c.1866C>G (p.Ser622Arg) n.2017C>G c.1863C>G (p.Ser621Arg) c.2037C>G (p.Ser679Arg) | |
7 | g.41972400G= | CA1702647734 | GLI3 | c.2040C= (p.Ser680=) c.1866C= (p.Ser622=) n.2017C= c.1863C= (p.Ser621=) c.2037C= (p.Ser679=) | |
7 | g.41972400G>T | CA367321946 | GLI3 | c.2040C>A (p.Ser680Arg) c.1866C>A (p.Ser622Arg) n.2017C>A c.1863C>A (p.Ser621Arg) c.2037C>A (p.Ser679Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41972401C>A | CA367321947 | GLI3 | c.2039G>T (p.Ser680Ile) c.1865G>T (p.Ser622Ile) n.2016G>T c.1862G>T (p.Ser621Ile) c.2036G>T (p.Ser679Ile) | |
7 | g.41972401C= | CA1702647738 | GLI3 | c.2039G= (p.Ser680=) c.1865G= (p.Ser622=) n.2016G= c.1862G= (p.Ser621=) c.2036G= (p.Ser679=) | |
7 | g.41972401C>G | CA367321948 | GLI3 | c.2039G>C (p.Ser680Thr) c.1865G>C (p.Ser622Thr) n.2016G>C c.1862G>C (p.Ser621Thr) c.2036G>C (p.Ser679Thr) | |
7 | g.41972401C>T | CA367321949 | GLI3 | c.2039G>A (p.Ser680Asn) c.1865G>A (p.Ser622Asn) n.2016G>A c.1862G>A (p.Ser621Asn) c.2036G>A (p.Ser679Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41972402T>A | CA367321950 | GLI3 | c.2038A>T (p.Ser680Cys) c.1864A>T (p.Ser622Cys) n.2015A>T c.1861A>T (p.Ser621Cys) c.2035A>T (p.Ser679Cys) | |
7 | g.41972402T>C | CA367321951 | GLI3 | c.2038A>G (p.Ser680Gly) c.1864A>G (p.Ser622Gly) n.2015A>G c.1861A>G (p.Ser621Gly) c.2035A>G (p.Ser679Gly) | |
7 | g.41972402T>G | CA367321952 | GLI3 | c.2038A>C (p.Ser680Arg) c.1864A>C (p.Ser622Arg) n.2015A>C c.1861A>C (p.Ser621Arg) c.2035A>C (p.Ser679Arg) | |
7 | g.41972403G>A | CA4230706 | GLI3 | c.2037C>T (p.Leu679=) c.1863C>T (p.Leu621=) n.2014C>T c.1860C>T (p.Leu620=) c.2034C>T (p.Leu678=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41972403G>C | CA454525539 | GLI3 | c.2037C>G (p.Leu679=) c.1863C>G (p.Leu621=) n.2014C>G c.1860C>G (p.Leu620=) c.2034C>G (p.Leu678=) | |
7 | g.41972403G= | CA1702647743 | GLI3 | c.2037C= (p.Leu679=) c.1863C= (p.Leu621=) n.2014C= c.1860C= (p.Leu620=) c.2034C= (p.Leu678=) | |
7 | g.41972403G>T | CA454525540 | GLI3 | c.2037C>A (p.Leu679=) c.1863C>A (p.Leu621=) n.2014C>A c.1860C>A (p.Leu620=) c.2034C>A (p.Leu678=) | |
7 | g.41972404A>C | CA367321953 | GLI3 | c.2036T>G (p.Leu679Arg) c.1862T>G (p.Leu621Arg) n.2013T>G c.1859T>G (p.Leu620Arg) c.2033T>G (p.Leu678Arg) | |
7 | g.41972404A>G | CA367321954 | GLI3 | c.2036T>C (p.Leu679Pro) c.1862T>C (p.Leu621Pro) n.2013T>C c.1859T>C (p.Leu620Pro) c.2033T>C (p.Leu678Pro) | |
7 | g.41972404A>T | CA367321955 | GLI3 | c.2036T>A (p.Leu679His) c.1862T>A (p.Leu621His) n.2013T>A c.1859T>A (p.Leu620His) c.2033T>A (p.Leu678His) | |
7 | g.41972405G>A | CA367321956 | GLI3 | c.2035C>T (p.Leu679Phe) c.1861C>T (p.Leu621Phe) n.2012C>T c.1858C>T (p.Leu620Phe) c.2032C>T (p.Leu678Phe) | |
7 | g.41972405G>C | CA367321957 | GLI3 | c.2035C>G (p.Leu679Val) c.1861C>G (p.Leu621Val) n.2012C>G c.1858C>G (p.Leu620Val) c.2032C>G (p.Leu678Val) | |
7 | g.41972405G>T | CA367321958 | GLI3 | c.2035C>A (p.Leu679Ile) c.1861C>A (p.Leu621Ile) n.2012C>A c.1858C>A (p.Leu620Ile) c.2032C>A (p.Leu678Ile) | |
7 | g.41972406G>A | CA454525549 | GLI3 | c.2034C>T (p.Asp678=) c.1860C>T (p.Asp620=) n.2011C>T c.1857C>T (p.Asp619=) c.2031C>T (p.Asp677=) | |
7 | g.41972406G>C | CA367321959 | GLI3 | c.2034C>G (p.Asp678Glu) c.1860C>G (p.Asp620Glu) n.2011C>G c.1857C>G (p.Asp619Glu) c.2031C>G (p.Asp677Glu) | dbSNP |
7 | g.41972406G= | CA1702647745 | GLI3 | c.2034C= (p.Asp678=) c.1860C= (p.Asp620=) n.2011C= c.1857C= (p.Asp619=) c.2031C= (p.Asp677=) | |
7 | g.41972406G>T | CA367321960 | GLI3 | c.2034C>A (p.Asp678Glu) c.1860C>A (p.Asp620Glu) n.2011C>A c.1857C>A (p.Asp619Glu) c.2031C>A (p.Asp677Glu) | |
7 | g.41972407T>A | CA367321961 | GLI3 | c.2033A>T (p.Asp678Val) c.1859A>T (p.Asp620Val) n.2010A>T c.1856A>T (p.Asp619Val) c.2030A>T (p.Asp677Val) | |
7 | g.41972407T>C | CA367321963 | GLI3 | c.2033A>G (p.Asp678Gly) c.1859A>G (p.Asp620Gly) n.2010A>G c.1856A>G (p.Asp619Gly) c.2030A>G (p.Asp677Gly) | gnomAD v4 |
7 | g.41972407T>G | CA367321965 | GLI3 | c.2033A>C (p.Asp678Ala) c.1859A>C (p.Asp620Ala) n.2010A>C c.1856A>C (p.Asp619Ala) c.2030A>C (p.Asp677Ala) | |
7 | g.41972407_41972408delinsTC | CA1702647747 | GLI3 | c.2032_2033delinsGA (p.Asp678=) c.1858_1859delinsGA (p.Asp620=) n.2009_2010delinsGA c.1855_1856delinsGA (p.Asp619=) c.2029_2030delinsGA (p.Asp677=) | |
7 | g.41972408C>A | CA367321966 | GLI3 | c.2032G>T (p.Asp678Tyr) c.1858G>T (p.Asp620Tyr) n.2009G>T c.1855G>T (p.Asp619Tyr) c.2029G>T (p.Asp677Tyr) | ClinVar dbSNP |
7 | g.41972408C= | CA1702647758 | GLI3 | c.2032G= (p.Asp678=) c.1858G= (p.Asp620=) n.2009G= c.1855G= (p.Asp619=) c.2029G= (p.Asp677=) | |
7 | g.41972408C>G | CA367321967 | GLI3 | c.2032G>C (p.Asp678His) c.1858G>C (p.Asp620His) n.2009G>C c.1855G>C (p.Asp619His) c.2029G>C (p.Asp677His) | |
7 | g.41972408C>T | CA367321968 | GLI3 | c.2032G>A (p.Asp678Asn) c.1858G>A (p.Asp620Asn) n.2009G>A c.1855G>A (p.Asp619Asn) c.2029G>A (p.Asp677Asn) | |
7 | g.41972409del | CA342913 | GLI3 | c.2032del (p.Asp678ThrfsTer15) c.1858del (p.Asp620ThrfsTer15) n.2009del c.1855del (p.Asp619ThrfsTer15) c.2029del (p.Asp677ThrfsTer15) | dbSNP |
7 | g.41972409C>A | CA367321969 | GLI3 | c.2031G>T (p.Gln677His) c.1857G>T (p.Gln619His) n.2008G>T c.1854G>T (p.Gln618His) c.2028G>T (p.Gln676His) | COSMIC |
7 | g.41972409C>G | CA367321970 | GLI3 | c.2031G>C (p.Gln677His) c.1857G>C (p.Gln619His) n.2008G>C c.1854G>C (p.Gln618His) c.2028G>C (p.Gln676His) | |
7 | g.41972409C>T | CA454525555 | GLI3 | c.2031G>A (p.Gln677=) c.1857G>A (p.Gln619=) n.2008G>A c.1854G>A (p.Gln618=) c.2028G>A (p.Gln676=) | COSMIC |
7 | g.41972410T>A | CA367321971 | GLI3 | c.2030A>T (p.Gln677Leu) c.1856A>T (p.Gln619Leu) n.2007A>T c.1853A>T (p.Gln618Leu) c.2027A>T (p.Gln676Leu) | |
7 | g.41972410T>C | CA367321972 | GLI3 | c.2030A>G (p.Gln677Arg) c.1856A>G (p.Gln619Arg) n.2007A>G c.1853A>G (p.Gln618Arg) c.2027A>G (p.Gln676Arg) | |
7 | g.41972410T>G | CA367321973 | GLI3 | c.2030A>C (p.Gln677Pro) c.1856A>C (p.Gln619Pro) n.2007A>C c.1853A>C (p.Gln618Pro) c.2027A>C (p.Gln676Pro) | |
7 | g.41972411G>A | CA367321976 | GLI3 | c.2029C>T (p.Gln677Ter) c.1855C>T (p.Gln619Ter) n.2006C>T c.1852C>T (p.Gln618Ter) c.2026C>T (p.Gln676Ter) | |
7 | g.41972411G>C | CA367321978 | GLI3 | c.2029C>G (p.Gln677Glu) c.1855C>G (p.Gln619Glu) n.2006C>G c.1852C>G (p.Gln618Glu) c.2026C>G (p.Gln676Glu) | gnomAD v4 |
7 | g.41972411G>T | CA367321975 | GLI3 | c.2029C>A (p.Gln677Lys) c.1855C>A (p.Gln619Lys) n.2006C>A c.1852C>A (p.Gln618Lys) c.2026C>A (p.Gln676Lys) | |
7 | g.41972412C>A | CA367321980 | GLI3 | c.2028G>T (p.Gln676His) c.1854G>T (p.Gln618His) n.2005G>T c.1851G>T (p.Gln617His) c.2025G>T (p.Gln675His) | |
7 | g.41972412C>G | CA367321982 | GLI3 | c.2028G>C (p.Gln676His) c.1854G>C (p.Gln618His) n.2005G>C c.1851G>C (p.Gln617His) c.2025G>C (p.Gln675His) | |
7 | g.41972412C>T | CA454525559 | GLI3 | c.2028G>A (p.Gln676=) c.1854G>A (p.Gln618=) n.2005G>A c.1851G>A (p.Gln617=) c.2025G>A (p.Gln675=) | gnomAD v4 |
7 | g.41972413T>A | CA367321984 | GLI3 | c.2027A>T (p.Gln676Leu) c.1853A>T (p.Gln618Leu) n.2004A>T c.1850A>T (p.Gln617Leu) c.2024A>T (p.Gln675Leu) | |
7 | g.41972413T>C | CA367321987 | GLI3 | c.2027A>G (p.Gln676Arg) c.1853A>G (p.Gln618Arg) n.2004A>G c.1850A>G (p.Gln617Arg) c.2024A>G (p.Gln675Arg) | |
7 | g.41972413T>G | CA367321989 | GLI3 | c.2027A>C (p.Gln676Pro) c.1853A>C (p.Gln618Pro) n.2004A>C c.1850A>C (p.Gln617Pro) c.2024A>C (p.Gln675Pro) | |
7 | g.41972414G>A | CA367321996 | GLI3 | c.2026C>T (p.Gln676Ter) c.1852C>T (p.Gln618Ter) n.2003C>T c.1849C>T (p.Gln617Ter) c.2023C>T (p.Gln675Ter) | |
7 | g.41972414G>C | CA367321990 | GLI3 | c.2026C>G (p.Gln676Glu) c.1852C>G (p.Gln618Glu) n.2003C>G c.1849C>G (p.Gln617Glu) c.2023C>G (p.Gln675Glu) | |
7 | g.41972414G>T | CA367321994 | GLI3 | c.2026C>A (p.Gln676Lys) c.1852C>A (p.Gln618Lys) n.2003C>A c.1849C>A (p.Gln617Lys) c.2023C>A (p.Gln675Lys) | COSMIC |
7 | g.41972415C>A | CA367321999 | GLI3 | c.2025G>T (p.Glu675Asp) c.1851G>T (p.Glu617Asp) n.2002G>T c.1848G>T (p.Glu616Asp) c.2022G>T (p.Glu674Asp) | |
7 | g.41972415C>G | CA367322001 | GLI3 | c.2025G>C (p.Glu675Asp) c.1851G>C (p.Glu617Asp) n.2002G>C c.1848G>C (p.Glu616Asp) c.2022G>C (p.Glu674Asp) | |
7 | g.41972415C>T | CA454525565 | GLI3 | c.2025G>A (p.Glu675=) c.1851G>A (p.Glu617=) n.2002G>A c.1848G>A (p.Glu616=) c.2022G>A (p.Glu674=) | |
7 | g.41972416T>A | CA367322003 | GLI3 | c.2024A>T (p.Glu675Val) c.1850A>T (p.Glu617Val) n.2001A>T c.1847A>T (p.Glu616Val) c.2021A>T (p.Glu674Val) | |
7 | g.41972416T>C | CA367322006 | GLI3 | c.2024A>G (p.Glu675Gly) c.1850A>G (p.Glu617Gly) n.2001A>G c.1847A>G (p.Glu616Gly) c.2021A>G (p.Glu674Gly) | |
7 | g.41972416T>G | CA367322008 | GLI3 | c.2024A>C (p.Glu675Ala) c.1850A>C (p.Glu617Ala) n.2001A>C c.1847A>C (p.Glu616Ala) c.2021A>C (p.Glu674Ala) | |
7 | g.41972416_41972417delinsTC | CA1702647764 | GLI3 | c.2023_2024delinsGA (p.Glu675=) c.1849_1850delinsGA (p.Glu617=) n.2000_2001delinsGA c.1846_1847delinsGA (p.Glu616=) c.2020_2021delinsGA (p.Glu674=) | |
7 | g.41972417del | CA341301 | GLI3 | c.2023del (p.Glu675SerfsTer18) c.1849del (p.Glu617SerfsTer18) n.2000del c.1846del (p.Glu616SerfsTer18) c.2020del (p.Glu674SerfsTer18) | ClinVar dbSNP |
7 | g.41972417C>A | CA367322012 | GLI3 | c.2023G>T (p.Glu675Ter) c.1849G>T (p.Glu617Ter) n.2000G>T c.1846G>T (p.Glu616Ter) c.2020G>T (p.Glu674Ter) | |
7 | g.41972417C= | CA1702647773 | GLI3 | c.2023G= (p.Glu675=) c.1849G= (p.Glu617=) n.2000G= c.1846G= (p.Glu616=) c.2020G= (p.Glu674=) | |
7 | g.41972417C>G | CA367322015 | GLI3 | c.2023G>C (p.Glu675Gln) c.1849G>C (p.Glu617Gln) n.2000G>C c.1846G>C (p.Glu616Gln) c.2020G>C (p.Glu674Gln) | |
7 | g.41972417C>T | CA367322011 | GLI3 | c.2023G>A (p.Glu675Lys) c.1849G>A (p.Glu617Lys) n.2000G>A c.1846G>A (p.Glu616Lys) c.2020G>A (p.Glu674Lys) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.41972418A>C | CA454525567 | GLI3 | c.2022T>G (p.Gly674=) c.1848T>G (p.Gly616=) n.1999T>G c.1845T>G (p.Gly615=) c.2019T>G (p.Gly673=) | |
7 | g.41972418A>G | CA454525568 | GLI3 | c.2022T>C (p.Gly674=) c.1848T>C (p.Gly616=) n.1999T>C c.1845T>C (p.Gly615=) c.2019T>C (p.Gly673=) | |
7 | g.41972418A>T | CA454525569 | GLI3 | c.2022T>A (p.Gly674=) c.1848T>A (p.Gly616=) n.1999T>A c.1845T>A (p.Gly615=) c.2019T>A (p.Gly673=) | |
7 | g.41972419C>A | CA367322018 | GLI3 | c.2021G>T (p.Gly674Val) c.1847G>T (p.Gly616Val) n.1998G>T c.1844G>T (p.Gly615Val) c.2018G>T (p.Gly673Val) | |
7 | g.41972419C= | CA1702647775 | GLI3 | c.2021G= (p.Gly674=) c.1847G= (p.Gly616=) n.1998G= c.1844G= (p.Gly615=) c.2018G= (p.Gly673=) | |
7 | g.41972419C>G | CA367322017 | GLI3 | c.2021G>C (p.Gly674Ala) c.1847G>C (p.Gly616Ala) n.1998G>C c.1844G>C (p.Gly615Ala) c.2018G>C (p.Gly673Ala) | |
7 | g.41972419C>T | CA367322020 | GLI3 | c.2021G>A (p.Gly674Asp) c.1847G>A (p.Gly616Asp) n.1998G>A c.1844G>A (p.Gly615Asp) c.2018G>A (p.Gly673Asp) | dbSNP |
7 | g.41972420C>A | CA367322023 | GLI3 | c.2020G>T (p.Gly674Cys) c.1846G>T (p.Gly616Cys) n.1997G>T c.1843G>T (p.Gly615Cys) c.2017G>T (p.Gly673Cys) | |
7 | g.41972420C>G | CA367322024 | GLI3 | c.2020G>C (p.Gly674Arg) c.1846G>C (p.Gly616Arg) n.1997G>C c.1843G>C (p.Gly615Arg) c.2017G>C (p.Gly673Arg) | |
7 | g.41972420C>T | CA367322026 | GLI3 | c.2020G>A (p.Gly674Ser) c.1846G>A (p.Gly616Ser) n.1997G>A c.1843G>A (p.Gly615Ser) c.2017G>A (p.Gly673Ser) | |
7 | g.41972421A>C | CA454525577 | GLI3 | c.2019T>G (p.Leu673=) c.1845T>G (p.Leu615=) n.1996T>G c.1842T>G (p.Leu614=) c.2016T>G (p.Leu672=) | |
7 | g.41972421A>G | CA454525578 | GLI3 | c.2019T>C (p.Leu673=) c.1845T>C (p.Leu615=) n.1996T>C c.1842T>C (p.Leu614=) c.2016T>C (p.Leu672=) | COSMIC |
7 | g.41972421A>T | CA454525579 | GLI3 | c.2019T>A (p.Leu673=) c.1845T>A (p.Leu615=) n.1996T>A c.1842T>A (p.Leu614=) c.2016T>A (p.Leu672=) | |
7 | g.41972422A>C | CA367322028 | GLI3 | c.2018T>G (p.Leu673Arg) c.1844T>G (p.Leu615Arg) n.1995T>G c.1841T>G (p.Leu614Arg) c.2015T>G (p.Leu672Arg) | |
7 | g.41972422A>G | CA367322030 | GLI3 | c.2018T>C (p.Leu673Pro) c.1844T>C (p.Leu615Pro) n.1995T>C c.1841T>C (p.Leu614Pro) c.2015T>C (p.Leu672Pro) | |
7 | g.41972422A>T | CA367322032 | GLI3 | c.2018T>A (p.Leu673His) c.1844T>A (p.Leu615His) n.1995T>A c.1841T>A (p.Leu614His) c.2015T>A (p.Leu672His) | |
7 | g.41972423G>A | CA367322034 | GLI3 | c.2017C>T (p.Leu673Phe) c.1843C>T (p.Leu615Phe) n.1994C>T c.1840C>T (p.Leu614Phe) c.2014C>T (p.Leu672Phe) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.41972423G>C | CA367322036 | GLI3 | c.2017C>G (p.Leu673Val) c.1843C>G (p.Leu615Val) n.1994C>G c.1840C>G (p.Leu614Val) c.2014C>G (p.Leu672Val) | |
7 | g.41972423G= | CA1702647777 | GLI3 | c.2017C= (p.Leu673=) c.1843C= (p.Leu615=) n.1994C= c.1840C= (p.Leu614=) c.2014C= (p.Leu672=) | |
7 | g.41972423G>T | CA367322038 | GLI3 | c.2017C>A (p.Leu673Ile) c.1843C>A (p.Leu615Ile) n.1994C>A c.1840C>A (p.Leu614Ile) c.2014C>A (p.Leu672Ile) | |
7 | g.41972424G>A | CA454525585 | GLI3 | c.2016C>T (p.Ala672=) c.1842C>T (p.Ala614=) n.1993C>T c.1839C>T (p.Ala613=) c.2013C>T (p.Ala671=) | |
7 | g.41972424G>C | CA454525586 | GLI3 | c.2016C>G (p.Ala672=) c.1842C>G (p.Ala614=) n.1993C>G c.1839C>G (p.Ala613=) c.2013C>G (p.Ala671=) | |
7 | g.41972424G>T | CA454525588 | GLI3 | c.2016C>A (p.Ala672=) c.1842C>A (p.Ala614=) n.1993C>A c.1839C>A (p.Ala613=) c.2013C>A (p.Ala671=) | gnomAD v4 |
7 | g.41972425G>A | CA367322039 | GLI3 | c.2015C>T (p.Ala672Val) c.1841C>T (p.Ala614Val) n.1992C>T c.1838C>T (p.Ala613Val) c.2012C>T (p.Ala671Val) | gnomAD v4 |
7 | g.41972425G>C | CA367322043 | GLI3 | c.2015C>G (p.Ala672Gly) c.1841C>G (p.Ala614Gly) n.1992C>G c.1838C>G (p.Ala613Gly) c.2012C>G (p.Ala671Gly) | |
7 | g.41972425G>T | CA367322045 | GLI3 | c.2015C>A (p.Ala672Asp) c.1841C>A (p.Ala614Asp) n.1992C>A c.1838C>A (p.Ala613Asp) c.2012C>A (p.Ala671Asp) | |
7 | g.41972426C>A | CA367322051 | GLI3 | c.2014G>T (p.Ala672Ser) c.1840G>T (p.Ala614Ser) n.1991G>T c.1837G>T (p.Ala613Ser) c.2011G>T (p.Ala671Ser) | |
7 | g.41972426C>G | CA367322049 | GLI3 | c.2014G>C (p.Ala672Pro) c.1840G>C (p.Ala614Pro) n.1991G>C c.1837G>C (p.Ala613Pro) c.2011G>C (p.Ala671Pro) | |
7 | g.41972426C>T | CA367322047 | GLI3 | c.2014G>A (p.Ala672Thr) c.1840G>A (p.Ala614Thr) n.1991G>A c.1837G>A (p.Ala613Thr) c.2011G>A (p.Ala671Thr) | |
7 | g.41972427T>A | CA454525597 | GLI3 | c.2013A>T (p.Gly671=) c.1839A>T (p.Gly613=) n.1990A>T c.1836A>T (p.Gly612=) c.2010A>T (p.Gly670=) | |
7 | g.41972427T>C | CA454525593 | GLI3 | c.2013A>G (p.Gly671=) c.1839A>G (p.Gly613=) n.1990A>G c.1836A>G (p.Gly612=) c.2010A>G (p.Gly670=) | |
7 | g.41972427T>G | CA454525595 | GLI3 | c.2013A>C (p.Gly671=) c.1839A>C (p.Gly613=) n.1990A>C c.1836A>C (p.Gly612=) c.2010A>C (p.Gly670=) | |
7 | g.41972427_41972428delinsTC | CA1702647778 | GLI3 | c.2012_2013delinsGA (p.Gly671=) c.1838_1839delinsGA (p.Gly613=) n.1989_1990delinsGA c.1835_1836delinsGA (p.Gly612=) c.2009_2010delinsGA (p.Gly670=) | |
7 | g.41972428C>A | CA367322053 | GLI3 | c.2012G>T (p.Gly671Val) c.1838G>T (p.Gly613Val) n.1989G>T c.1835G>T (p.Gly612Val) c.2009G>T (p.Gly670Val) | |
7 | g.41972428C>G | CA367322054 | GLI3 | c.2012G>C (p.Gly671Ala) c.1838G>C (p.Gly613Ala) n.1989G>C c.1835G>C (p.Gly612Ala) c.2009G>C (p.Gly670Ala) | |
7 | g.41972428C>T | CA367322057 | GLI3 | c.2012G>A (p.Gly671Glu) c.1838G>A (p.Gly613Glu) n.1989G>A c.1835G>A (p.Gly612Glu) c.2009G>A (p.Gly670Glu) | gnomAD v4 |
7 | g.41972430del | CA341302 | GLI3 | c.2012del (p.Gly671GlufsTer22) c.1838del (p.Gly613GlufsTer22) n.1989del c.1835del (p.Gly612GlufsTer22) c.2009del (p.Gly670GlufsTer22) | ClinVar dbSNP |
7 | g.41972429C>A | CA367322059 | GLI3 | c.2011G>T (p.Gly671Ter) c.1837G>T (p.Gly613Ter) n.1988G>T c.1834G>T (p.Gly612Ter) c.2008G>T (p.Gly670Ter) | |
7 | g.41972429C>G | CA367322061 | GLI3 | c.2011G>C (p.Gly671Arg) c.1837G>C (p.Gly613Arg) n.1988G>C c.1834G>C (p.Gly612Arg) c.2008G>C (p.Gly670Arg) | |
7 | g.41972429C>T | CA367322063 | GLI3 | c.2011G>A (p.Gly671Arg) c.1837G>A (p.Gly613Arg) n.1988G>A c.1834G>A (p.Gly612Arg) c.2008G>A (p.Gly670Arg) | |
7 | g.41972430C>A | CA367322064 | GLI3 | c.2010G>T (p.Gln670His) c.1836G>T (p.Gln612His) n.1987G>T c.1833G>T (p.Gln611His) c.2007G>T (p.Gln669His) | COSMIC |
7 | g.41972430C>G | CA367322066 | GLI3 | c.2010G>C (p.Gln670His) c.1836G>C (p.Gln612His) n.1987G>C c.1833G>C (p.Gln611His) c.2007G>C (p.Gln669His) | |
7 | g.41972430C>T | CA454525600 | GLI3 | c.2010G>A (p.Gln670=) c.1836G>A (p.Gln612=) n.1987G>A c.1833G>A (p.Gln611=) c.2007G>A (p.Gln669=) | gnomAD v4 |
7 | g.41972431T>A | CA367322068 | GLI3 | c.2009A>T (p.Gln670Leu) c.1835A>T (p.Gln612Leu) n.1986A>T c.1832A>T (p.Gln611Leu) c.2006A>T (p.Gln669Leu) | |
7 | g.41972431T>C | CA367322069 | GLI3 | c.2009A>G (p.Gln670Arg) c.1835A>G (p.Gln612Arg) n.1986A>G c.1832A>G (p.Gln611Arg) c.2006A>G (p.Gln669Arg) | |
7 | g.41972431T>G | CA367322072 | GLI3 | c.2009A>C (p.Gln670Pro) c.1835A>C (p.Gln612Pro) n.1986A>C c.1832A>C (p.Gln611Pro) c.2006A>C (p.Gln669Pro) | COSMIC |
7 | g.41972432G>A | CA367322077 | GLI3 | c.2008C>T (p.Gln670Ter) c.1834C>T (p.Gln612Ter) n.1985C>T c.1831C>T (p.Gln611Ter) c.2005C>T (p.Gln669Ter) | |
7 | g.41972432G>C | CA367322075 | GLI3 | c.2008C>G (p.Gln670Glu) c.1834C>G (p.Gln612Glu) n.1985C>G c.1831C>G (p.Gln611Glu) c.2005C>G (p.Gln669Glu) | dbSNP COSMIC |
7 | g.41972432G>T | CA367322074 | GLI3 | c.2008C>A (p.Gln670Lys) c.1834C>A (p.Gln612Lys) n.1985C>A c.1831C>A (p.Gln611Lys) c.2005C>A (p.Gln669Lys) | |
7 | g.41972433A= | CA1702647787 | GLI3 | c.2007T= (p.Thr669=) c.1833T= (p.Thr611=) n.1984T= c.1830T= (p.Thr610=) c.2004T= (p.Thr668=) | |
7 | g.41972433A>C | CA454525606 | GLI3 | c.2007T>G (p.Thr669=) c.1833T>G (p.Thr611=) n.1984T>G c.1830T>G (p.Thr610=) c.2004T>G (p.Thr668=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.41972433A>G | CA454525611 | GLI3 | c.2007T>C (p.Thr669=) c.1833T>C (p.Thr611=) n.1984T>C c.1830T>C (p.Thr610=) c.2004T>C (p.Thr668=) | |
7 | g.41972433A>T | CA454525614 | GLI3 | c.2007T>A (p.Thr669=) c.1833T>A (p.Thr611=) n.1984T>A c.1830T>A (p.Thr610=) c.2004T>A (p.Thr668=) | |
7 | g.41972433_41972437delinsAGTCG | CA1702647785 | GLI3 | c.2003_2007delinsCGACT (p.Pro668=) c.1829_1833delinsCGACT (p.Pro610=) n.1980_1984delinsCGACT c.1826_1830delinsCGACT (p.Pro609=) c.2000_2004delinsCGACT (p.Pro667=) | |
7 | g.41972434G>A | CA4230707 | GLI3 | c.2006C>T (p.Thr669Ile) c.1832C>T (p.Thr611Ile) n.1983C>T c.1829C>T (p.Thr610Ile) c.2003C>T (p.Thr668Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41972434G>C | CA367322079 | GLI3 | c.2006C>G (p.Thr669Ser) c.1832C>G (p.Thr611Ser) n.1983C>G c.1829C>G (p.Thr610Ser) c.2003C>G (p.Thr668Ser) | COSMIC |
7 | g.41972434G= | CA1702647799 | GLI3 | c.2006C= (p.Thr669=) c.1832C= (p.Thr611=) n.1983C= c.1829C= (p.Thr610=) c.2003C= (p.Thr668=) | |
7 | g.41972434G>T | CA367322081 | GLI3 | c.2006C>A (p.Thr669Asn) c.1832C>A (p.Thr611Asn) n.1983C>A c.1829C>A (p.Thr610Asn) c.2003C>A (p.Thr668Asn) | |
7 | g.41972439_41972442del | CA342912 | GLI3 | c.2003_2006del (p.Pro668LeufsTer24) c.1829_1832del (p.Pro610LeufsTer24) n.1980_1983del c.1826_1829del (p.Pro609LeufsTer24) c.2000_2003del (p.Pro667LeufsTer24) | dbSNP |
7 | g.41972435T>A | CA367322083 | GLI3 | c.2005A>T (p.Thr669Ser) c.1831A>T (p.Thr611Ser) n.1982A>T c.1828A>T (p.Thr610Ser) c.2002A>T (p.Thr668Ser) | |
7 | g.41972435T>C | CA367322084 | GLI3 | c.2005A>G (p.Thr669Ala) c.1831A>G (p.Thr611Ala) n.1982A>G c.1828A>G (p.Thr610Ala) c.2002A>G (p.Thr668Ala) | |
7 | g.41972435T>G | CA4230708 | GLI3 | c.2005A>C (p.Thr669Pro) c.1831A>C (p.Thr611Pro) n.1982A>C c.1828A>C (p.Thr610Pro) c.2002A>C (p.Thr668Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41972435T= | CA1702647802 | GLI3 | c.2005A= (p.Thr669=) c.1831A= (p.Thr611=) n.1982A= c.1828A= (p.Thr610=) c.2002A= (p.Thr668=) | |
7 | g.41972436C>A | CA454525620 | GLI3 | c.2004G>T (p.Pro668=) c.1830G>T (p.Pro610=) n.1981G>T c.1827G>T (p.Pro609=) c.2001G>T (p.Pro667=) | |
7 | g.41972436C= | CA1702647807 | GLI3 | c.2004G= (p.Pro668=) c.1830G= (p.Pro610=) n.1981G= c.1827G= (p.Pro609=) c.2001G= (p.Pro667=) | |
7 | g.41972436C>G | CA454525623 | GLI3 | c.2004G>C (p.Pro668=) c.1830G>C (p.Pro610=) n.1981G>C c.1827G>C (p.Pro609=) c.2001G>C (p.Pro667=) | |
7 | g.41972436C>T | CA156913752 | GLI3 | c.2004G>A (p.Pro668=) c.1830G>A (p.Pro610=) n.1981G>A c.1827G>A (p.Pro609=) c.2001G>A (p.Pro667=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
7 | g.41972437G>A | CA4230709 | GLI3 | c.2003C>T (p.Pro668Leu) c.1829C>T (p.Pro610Leu) n.1980C>T c.1826C>T (p.Pro609Leu) c.2000C>T (p.Pro667Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41972437G>C | CA367322091 | GLI3 | c.2003C>G (p.Pro668Arg) c.1829C>G (p.Pro610Arg) n.1980C>G c.1826C>G (p.Pro609Arg) c.2000C>G (p.Pro667Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.41972437G= | CA1702647816 | GLI3 | c.2003C= (p.Pro668=) c.1829C= (p.Pro610=) n.1980C= c.1826C= (p.Pro609=) c.2000C= (p.Pro667=) | |
7 | g.41972437G>T | CA367322090 | GLI3 | c.2003C>A (p.Pro668Gln) c.1829C>A (p.Pro610Gln) n.1980C>A c.1826C>A (p.Pro609Gln) c.2000C>A (p.Pro667Gln) | |
7 | g.41972438G>A | CA367322094 | GLI3 | c.2002C>T (p.Pro668Ser) c.1828C>T (p.Pro610Ser) n.1979C>T c.1825C>T (p.Pro609Ser) c.1999C>T (p.Pro667Ser) | |
7 | g.41972438G>C | CA367322096 | GLI3 | c.2002C>G (p.Pro668Ala) c.1828C>G (p.Pro610Ala) n.1979C>G c.1825C>G (p.Pro609Ala) c.1999C>G (p.Pro667Ala) | |
7 | g.41972438G= | CA1702647818 | GLI3 | c.2002C= (p.Pro668=) c.1828C= (p.Pro610=) n.1979C= c.1825C= (p.Pro609=) c.1999C= (p.Pro667=) | |
7 | g.41972438G>T | CA367322098 | GLI3 | c.2002C>A (p.Pro668Thr) c.1828C>A (p.Pro610Thr) n.1979C>A c.1825C>A (p.Pro609Thr) c.1999C>A (p.Pro667Thr) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.41972439T>A | CA454525627 | GLI3 | c.2001A>T (p.Arg667=) c.1827A>T (p.Arg609=) n.1978A>T c.1824A>T (p.Arg608=) c.1998A>T (p.Arg666=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.41972439T>C | CA454525628 | GLI3 | c.2001A>G (p.Arg667=) c.1827A>G (p.Arg609=) n.1978A>G c.1824A>G (p.Arg608=) c.1998A>G (p.Arg666=) | |
7 | g.41972439T>G | CA454525631 | GLI3 | c.2001A>C (p.Arg667=) c.1827A>C (p.Arg609=) n.1978A>C c.1824A>C (p.Arg608=) c.1998A>C (p.Arg666=) | |
7 | g.41972439T= | CA1702647819 | GLI3 | c.2001A= (p.Arg667=) c.1827A= (p.Arg609=) n.1978A= c.1824A= (p.Arg608=) c.1998A= (p.Arg666=) | |
7 | g.41972440C>A | CA4230710 | GLI3 | c.2000G>T (p.Arg667Leu) c.1826G>T (p.Arg609Leu) n.553G>T n.1977G>T c.1823G>T (p.Arg608Leu) c.1997G>T (p.Arg666Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.41972440C= | CA1702647822 | GLI3 | c.2000G= (p.Arg667=) c.1826G= (p.Arg609=) n.553G= n.1977G= c.1823G= (p.Arg608=) c.1997G= (p.Arg666=) | |
7 | g.41972440C>G | CA367322102 | GLI3 | c.2000G>C (p.Arg667Pro) c.1826G>C (p.Arg609Pro) n.553G>C n.1977G>C c.1823G>C (p.Arg608Pro) c.1997G>C (p.Arg666Pro) | |
7 | g.41972440C>T | CA4230711 | GLI3 | c.2000G>A (p.Arg667Gln) c.1826G>A (p.Arg609Gln) n.553G>A n.1977G>A c.1823G>A (p.Arg608Gln) c.1997G>A (p.Arg666Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41972441G>A | CA4230712 | GLI3 | c.1999C>T (p.Arg667Ter) c.1825C>T (p.Arg609Ter) n.552C>T n.1976C>T c.1822C>T (p.Arg608Ter) c.1996C>T (p.Arg666Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.41972441G>C | CA367322104 | GLI3 | c.1999C>G (p.Arg667Gly) c.1825C>G (p.Arg609Gly) n.552C>G n.1976C>G c.1822C>G (p.Arg608Gly) c.1996C>G (p.Arg666Gly) | gnomAD v4 |
7 | g.41972441G= | CA1702647828 | GLI3 | c.1999C= (p.Arg667=) c.1825C= (p.Arg609=) n.552C= n.1976C= c.1822C= (p.Arg608=) c.1996C= (p.Arg666=) | |
7 | g.41972441G>T | CA454525636 | GLI3 | c.1999C>A (p.Arg667=) c.1825C>A (p.Arg609=) n.552C>A n.1976C>A c.1822C>A (p.Arg608=) c.1996C>A (p.Arg666=) | |
7 | g.41972442G>A | CA454525638 | GLI3 | c.1998C>T (p.Gly666=) c.1824C>T (p.Gly608=) n.551C>T n.1975C>T c.1821C>T (p.Gly607=) c.1995C>T (p.Gly665=) | dbSNP |
7 | g.41972442G>C | CA454525639 | GLI3 | c.1998C>G (p.Gly666=) c.1824C>G (p.Gly608=) n.551C>G n.1975C>G c.1821C>G (p.Gly607=) c.1995C>G (p.Gly665=) | |
7 | g.41972442G= | CA1702647830 | GLI3 | c.1998C= (p.Gly666=) c.1824C= (p.Gly608=) n.551C= n.1975C= c.1821C= (p.Gly607=) c.1995C= (p.Gly665=) | |
7 | g.41972442G>T | CA454525640 | GLI3 | c.1998C>A (p.Gly666=) c.1824C>A (p.Gly608=) n.551C>A n.1975C>A c.1821C>A (p.Gly607=) c.1995C>A (p.Gly665=) | |
7 | g.41972443C>A | CA367322106 | GLI3 | c.1997G>T (p.Gly666Val) c.1823G>T (p.Gly608Val) n.550G>T n.1974G>T c.1820G>T (p.Gly607Val) c.1994G>T (p.Gly665Val) | |
7 | g.41972443C>G | CA367322107 | GLI3 | c.1997G>C (p.Gly666Ala) c.1823G>C (p.Gly608Ala) n.550G>C n.1974G>C c.1820G>C (p.Gly607Ala) c.1994G>C (p.Gly665Ala) | |
7 | g.41972443C>T | CA367322109 | GLI3 | c.1997G>A (p.Gly666Asp) c.1823G>A (p.Gly608Asp) n.550G>A n.1974G>A c.1820G>A (p.Gly607Asp) c.1994G>A (p.Gly665Asp) | |
7 | g.41972444C>A | CA367322112 | GLI3 | c.1996G>T (p.Gly666Cys) c.1822G>T (p.Gly608Cys) n.549G>T n.1973G>T c.1819G>T (p.Gly607Cys) c.1993G>T (p.Gly665Cys) | |
7 | g.41972444C= | CA1702647832 | GLI3 | c.1996G= (p.Gly666=) c.1822G= (p.Gly608=) n.549G= n.1973G= c.1819G= (p.Gly607=) c.1993G= (p.Gly665=) | |
7 | g.41972444C>G | CA367322113 | GLI3 | c.1996G>C (p.Gly666Arg) c.1822G>C (p.Gly608Arg) n.549G>C n.1973G>C c.1819G>C (p.Gly607Arg) c.1993G>C (p.Gly665Arg) | |
7 | g.41972444C>T | CA4230713 | GLI3 | c.1996G>A (p.Gly666Ser) c.1822G>A (p.Gly608Ser) n.549G>A n.1973G>A c.1819G>A (p.Gly607Ser) c.1993G>A (p.Gly665Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.41972445del | CA2695207662 | GLI3 | c.1995del (p.Gly666AlafsTer27) c.1821del (p.Gly608AlafsTer27) n.548del n.1972del c.1818del (p.Gly607AlafsTer27) c.1992del (p.Gly665AlafsTer27) | |
7 | g.41972445A= | CA1702647835 | GLI3 | c.1995T= (p.Pro665=) c.1821T= (p.Pro607=) n.548T= n.1972T= c.1818T= (p.Pro606=) c.1992T= (p.Pro664=) | |
7 | g.41972445A>C | CA454525647 | GLI3 | c.1995T>G (p.Pro665=) c.1821T>G (p.Pro607=) n.548T>G n.1972T>G c.1818T>G (p.Pro606=) c.1992T>G (p.Pro664=) | |
7 | g.41972445A>G | CA454525648 | GLI3 | c.1995T>C (p.Pro665=) c.1821T>C (p.Pro607=) n.548T>C n.1972T>C c.1818T>C (p.Pro606=) c.1992T>C (p.Pro664=) | dbSNP gnomAD v4 |
7 | g.41972445A>T | CA454525650 | GLI3 | c.1995T>A (p.Pro665=) c.1821T>A (p.Pro607=) n.548T>A n.1972T>A c.1818T>A (p.Pro606=) c.1992T>A (p.Pro664=) | |
7 | g.41972446G>A | CA367322117 | GLI3 | c.1994C>T (p.Pro665Leu) c.1820C>T (p.Pro607Leu) n.547C>T n.1971C>T c.1817C>T (p.Pro606Leu) c.1991C>T (p.Pro664Leu) | gnomAD v4 |
7 | g.41972446G>C | CA367322119 | GLI3 | c.1994C>G (p.Pro665Arg) c.1820C>G (p.Pro607Arg) n.547C>G n.1971C>G c.1817C>G (p.Pro606Arg) c.1991C>G (p.Pro664Arg) | |
7 | g.41972446G>T | CA367322121 | GLI3 | c.1994C>A (p.Pro665His) c.1820C>A (p.Pro607His) n.547C>A n.1971C>A c.1817C>A (p.Pro606His) c.1991C>A (p.Pro664His) | |
7 | g.41972447G>A | CA367322127 | GLI3 | c.1993C>T (p.Pro665Ser) c.1819C>T (p.Pro607Ser) n.546C>T n.1970C>T c.1816C>T (p.Pro606Ser) c.1990C>T (p.Pro664Ser) | |
7 | g.41972447G>C | CA367322125 | GLI3 | c.1993C>G (p.Pro665Ala) c.1819C>G (p.Pro607Ala) n.546C>G n.1970C>G c.1816C>G (p.Pro606Ala) c.1990C>G (p.Pro664Ala) | |
7 | g.41972447G>T | CA367322124 | GLI3 | c.1993C>A (p.Pro665Thr) c.1819C>A (p.Pro607Thr) n.546C>A n.1970C>A c.1816C>A (p.Pro606Thr) c.1990C>A (p.Pro664Thr) | |
7 | g.41972448C>A | CA454525656 | GLI3 | c.1992G>T (p.Ser664=) c.1818G>T (p.Ser606=) n.545G>T n.1969G>T c.1815G>T (p.Ser605=) c.1989G>T (p.Ser663=) | gnomAD v4 |
7 | g.41972448C= | CA1702647840 | GLI3 | c.1992G= (p.Ser664=) c.1818G= (p.Ser606=) n.545G= n.1969G= c.1815G= (p.Ser605=) c.1989G= (p.Ser663=) | |
7 | g.41972448C>G | CA454525657 | GLI3 | c.1992G>C (p.Ser664=) c.1818G>C (p.Ser606=) n.545G>C n.1969G>C c.1815G>C (p.Ser605=) c.1989G>C (p.Ser663=) | |
7 | g.41972448C>T | CA4230714 | GLI3 | c.1992G>A (p.Ser664=) c.1818G>A (p.Ser606=) n.545G>A n.1969G>A c.1815G>A (p.Ser605=) c.1989G>A (p.Ser663=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41972449G>A | CA4230715 | GLI3 | c.1991C>T (p.Ser664Leu) c.1817C>T (p.Ser606Leu) n.544C>T n.1968C>T c.1814C>T (p.Ser605Leu) c.1988C>T (p.Ser663Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.41972449G>C | CA367322132 | GLI3 | c.1991C>G (p.Ser664Trp) c.1817C>G (p.Ser606Trp) n.544C>G n.1968C>G c.1814C>G (p.Ser605Trp) c.1988C>G (p.Ser663Trp) | |
7 | g.41972449G= | CA1702647846 | GLI3 | c.1991C= (p.Ser664=) c.1817C= (p.Ser606=) n.544C= n.1968C= c.1814C= (p.Ser605=) c.1988C= (p.Ser663=) | |
7 | g.41972449G>T | CA367322130 | GLI3 | c.1991C>A (p.Ser664Ter) c.1817C>A (p.Ser606Ter) n.544C>A n.1968C>A c.1814C>A (p.Ser605Ter) c.1988C>A (p.Ser663Ter) | ClinVar gnomAD v4 COSMIC |
7 | g.41972450A= | CA1702647851 | GLI3 | c.1990T= (p.Ser664=) c.1816T= (p.Ser606=) n.543T= n.1967T= c.1813T= (p.Ser605=) c.1987T= (p.Ser663=) | |
7 | g.41972450A>C | CA367322135 | GLI3 | c.1990T>G (p.Ser664Ala) c.1816T>G (p.Ser606Ala) n.543T>G n.1967T>G c.1813T>G (p.Ser605Ala) c.1987T>G (p.Ser663Ala) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.41972450A>G | CA367322136 | GLI3 | c.1990T>C (p.Ser664Pro) c.1816T>C (p.Ser606Pro) n.543T>C n.1967T>C c.1813T>C (p.Ser605Pro) c.1987T>C (p.Ser663Pro) | |
7 | g.41972450A>T | CA367322138 | GLI3 | c.1990T>A (p.Ser664Thr) c.1816T>A (p.Ser606Thr) n.543T>A n.1967T>A c.1813T>A (p.Ser605Thr) c.1987T>A (p.Ser663Thr) | |
7 | g.41972451C>A | CA367322140 | GLI3 | c.1989G>T (p.Arg663Ser) c.1815G>T (p.Arg605Ser) n.542G>T n.1966G>T c.1812G>T (p.Arg604Ser) c.1986G>T (p.Arg662Ser) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41972451C= | CA1702647853 | GLI3 | c.1989G= (p.Arg663=) c.1815G= (p.Arg605=) n.542G= n.1966G= c.1812G= (p.Arg604=) c.1986G= (p.Arg662=) | |
7 | g.41972451C>G | CA367322142 | GLI3 | c.1989G>C (p.Arg663Ser) c.1815G>C (p.Arg605Ser) n.542G>C n.1966G>C c.1812G>C (p.Arg604Ser) c.1986G>C (p.Arg662Ser) | |
7 | g.41972451C>T | CA454525663 | GLI3 | c.1989G>A (p.Arg663=) c.1815G>A (p.Arg605=) n.542G>A n.1966G>A c.1812G>A (p.Arg604=) c.1986G>A (p.Arg662=) | |
7 | g.41972452C>A | CA367322145 | GLI3 | c.1988G>T (p.Arg663Met) c.1814G>T (p.Arg605Met) n.541G>T n.1965G>T c.1811G>T (p.Arg604Met) c.1985G>T (p.Arg662Met) | |
7 | g.41972452C>G | CA367322147 | GLI3 | c.1988G>C (p.Arg663Thr) c.1814G>C (p.Arg605Thr) n.541G>C n.1965G>C c.1811G>C (p.Arg604Thr) c.1985G>C (p.Arg662Thr) | |
7 | g.41972452C>T | CA367322149 | GLI3 | c.1988G>A (p.Arg663Lys) c.1814G>A (p.Arg605Lys) n.541G>A n.1965G>A c.1811G>A (p.Arg604Lys) c.1985G>A (p.Arg662Lys) | |
7 | g.41972453T>A | CA367322152 | GLI3 | c.1987A>T (p.Arg663Trp) c.1813A>T (p.Arg605Trp) n.540A>T n.1964A>T c.1810A>T (p.Arg604Trp) c.1984A>T (p.Arg662Trp) | |
7 | g.41972453T>C | CA367322153 | GLI3 | c.1987A>G (p.Arg663Gly) c.1813A>G (p.Arg605Gly) n.540A>G n.1964A>G c.1810A>G (p.Arg604Gly) c.1984A>G (p.Arg662Gly) | gnomAD v4 |
7 | g.41972453T>G | CA454525666 | GLI3 | c.1987A>C (p.Arg663=) c.1813A>C (p.Arg605=) n.540A>C n.1964A>C c.1810A>C (p.Arg604=) c.1984A>C (p.Arg662=) |