Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.41972334T>ACA838564623GLI3c.2103+3A>T (n.2103+3A>T)
c.1929+3A>T (n.1929+3A>T)
n.2080+3A>T
c.1926+3A>T (n.1926+3A>T)
c.2100+3A>T (n.2100+3A>T)
 dbSNP
7g.41972334T>CCA1702647600GLI3c.2103+3A>G (n.2103+3A>G)
c.1929+3A>G (n.1929+3A>G)
n.2080+3A>G
c.1926+3A>G (n.1926+3A>G)
c.2100+3A>G (n.2100+3A>G)
 dbSNP
7g.41972334T=CA1702647599GLI3c.2103+3A= (n.2103+3A=)
c.1929+3A= (n.1929+3A=)
n.2080+3A=
c.1926+3A= (n.1926+3A=)
c.2100+3A= (n.2100+3A=)
7g.41972335A>CCA367321804GLI3c.2103+2T>G (n.2103+2T>G)
c.1929+2T>G (n.1929+2T>G)
n.2080+2T>G
c.1926+2T>G (n.1926+2T>G)
c.2100+2T>G (n.2100+2T>G)
7g.41972335A>GCA367321805GLI3c.2103+2T>C (n.2103+2T>C)
c.1929+2T>C (n.1929+2T>C)
n.2080+2T>C
c.1926+2T>C (n.1926+2T>C)
c.2100+2T>C (n.2100+2T>C)
7g.41972335A>TCA367321806GLI3c.2103+2T>A (n.2103+2T>A)
c.1929+2T>A (n.1929+2T>A)
n.2080+2T>A
c.1926+2T>A (n.1926+2T>A)
c.2100+2T>A (n.2100+2T>A)
 ClinVar dbSNP
7g.41972336C>ACA367321808GLI3c.2103+1G>T (n.2103+1G>T)
c.1929+1G>T (n.1929+1G>T)
n.2080+1G>T
c.1926+1G>T (n.1926+1G>T)
c.2100+1G>T (n.2100+1G>T)
 gnomAD v4
7g.41972336C>GCA367321809GLI3c.2103+1G>C (n.2103+1G>C)
c.1929+1G>C (n.1929+1G>C)
n.2080+1G>C
c.1926+1G>C (n.1926+1G>C)
c.2100+1G>C (n.2100+1G>C)
7g.41972336C>TCA367321807GLI3c.2103+1G>A (n.2103+1G>A)
c.1929+1G>A (n.1929+1G>A)
n.2080+1G>A
c.1926+1G>A (n.1926+1G>A)
c.2100+1G>A (n.2100+1G>A)
7g.41972337C>ACA367321810GLI3c.2103G>T (p.Met701Ile)
c.1929G>T (p.Met643Ile)
n.2080G>T
c.1926G>T (p.Met642Ile)
c.2100G>T (p.Met700Ile)
 gnomAD v4
7g.41972337C>GCA367321811GLI3c.2103G>C (p.Met701Ile)
c.1929G>C (p.Met643Ile)
n.2080G>C
c.1926G>C (p.Met642Ile)
c.2100G>C (p.Met700Ile)
7g.41972337C>TCA367321812GLI3c.2103G>A (p.Met701Ile)
c.1929G>A (p.Met643Ile)
n.2080G>A
c.1926G>A (p.Met642Ile)
c.2100G>A (p.Met700Ile)
 COSMIC
7g.41972338A=CA1702647602GLI3c.2102T= (p.Met701=)
c.1928T= (p.Met643=)
n.2079T=
c.1925T= (p.Met642=)
c.2099T= (p.Met700=)
7g.41972338A>CCA367321813GLI3c.2102T>G (p.Met701Arg)
c.1928T>G (p.Met643Arg)
n.2079T>G
c.1925T>G (p.Met642Arg)
c.2099T>G (p.Met700Arg)
7g.41972338A>GCA367321814GLI3c.2102T>C (p.Met701Thr)
c.1928T>C (p.Met643Thr)
n.2079T>C
c.1925T>C (p.Met642Thr)
c.2099T>C (p.Met700Thr)
7g.41972338A>TCA367321815GLI3c.2102T>A (p.Met701Lys)
c.1928T>A (p.Met643Lys)
n.2079T>A
c.1925T>A (p.Met642Lys)
c.2099T>A (p.Met700Lys)
 dbSNP gnomAD v3 gnomAD v4
7g.41972339T>ACA367321816GLI3c.2101A>T (p.Met701Leu)
c.1927A>T (p.Met643Leu)
n.2078A>T
c.1924A>T (p.Met642Leu)
c.2098A>T (p.Met700Leu)
7g.41972339T>CCA4230691GLI3c.2101A>G (p.Met701Val)
c.1927A>G (p.Met643Val)
n.2078A>G
c.1924A>G (p.Met642Val)
c.2098A>G (p.Met700Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41972339T>GCA367321817GLI3c.2101A>C (p.Met701Leu)
c.1927A>C (p.Met643Leu)
n.2078A>C
c.1924A>C (p.Met642Leu)
c.2098A>C (p.Met700Leu)
 COSMIC
7g.41972339T=CA1702647606GLI3c.2101A= (p.Met701=)
c.1927A= (p.Met643=)
n.2078A=
c.1924A= (p.Met642=)
c.2098A= (p.Met700=)
7g.41972340T>ACA454525389GLI3c.2100A>T (p.Pro700=)
c.1926A>T (p.Pro642=)
n.2077A>T
c.1923A>T (p.Pro641=)
c.2097A>T (p.Pro699=)
7g.41972340T>CCA156913574GLI3c.2100A>G (p.Pro700=)
c.1926A>G (p.Pro642=)
n.2077A>G
c.1923A>G (p.Pro641=)
c.2097A>G (p.Pro699=)
 dbSNP
7g.41972340T>GCA454525390GLI3c.2100A>C (p.Pro700=)
c.1926A>C (p.Pro642=)
n.2077A>C
c.1923A>C (p.Pro641=)
c.2097A>C (p.Pro699=)
7g.41972340T=CA1702647610GLI3c.2100A= (p.Pro700=)
c.1926A= (p.Pro642=)
n.2077A=
c.1923A= (p.Pro641=)
c.2097A= (p.Pro699=)
7g.41972341G>ACA367321818GLI3c.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
7g.41972341G>CCA367321819GLI3c.2099C>G (p.Pro700Arg)
c.1925C>G (p.Pro642Arg)
n.2076C>G
c.1922C>G (p.Pro641Arg)
c.2096C>G (p.Pro699Arg)
7g.41972341G=CA1702647613GLI3c.2099C= (p.Pro700=)
c.1925C= (p.Pro642=)
n.2076C=
c.1922C= (p.Pro641=)
c.2096C= (p.Pro699=)
7g.41972341G>TCA367321820GLI3c.2099C>A (p.Pro700Gln)
c.1925C>A (p.Pro642Gln)
n.2076C>A
c.1922C>A (p.Pro641Gln)
c.2096C>A (p.Pro699Gln)
7g.41972342G>ACA367321821GLI3c.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
7g.41972342G>CCA367321823GLI3c.2098C>G (p.Pro700Ala)
c.1924C>G (p.Pro642Ala)
n.2075C>G
c.1921C>G (p.Pro641Ala)
c.2095C>G (p.Pro699Ala)
7g.41972342G=CA1702647620GLI3c.2098C= (p.Pro700=)
c.1924C= (p.Pro642=)
n.2075C=
c.1921C= (p.Pro641=)
c.2095C= (p.Pro699=)
7g.41972342G>TCA367321822GLI3c.2098C>A (p.Pro700Thr)
c.1924C>A (p.Pro642Thr)
n.2075C>A
c.1921C>A (p.Pro641Thr)
c.2095C>A (p.Pro699Thr)
7g.41972343C>ACA367321824GLI3c.2097G>T (p.Lys699Asn)
c.1923G>T (p.Lys641Asn)
n.2074G>T
c.1920G>T (p.Lys640Asn)
c.2094G>T (p.Lys698Asn)
 dbSNP
7g.41972343C=CA1702647629GLI3c.2097G= (p.Lys699=)
c.1923G= (p.Lys641=)
n.2074G=
c.1920G= (p.Lys640=)
c.2094G= (p.Lys698=)
7g.41972343C>GCA367321825GLI3c.2097G>C (p.Lys699Asn)
c.1923G>C (p.Lys641Asn)
n.2074G>C
c.1920G>C (p.Lys640Asn)
c.2094G>C (p.Lys698Asn)
7g.41972343C>TCA454525393GLI3c.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
7g.41972344T>ACA367321826GLI3c.2096A>T (p.Lys699Met)
c.1922A>T (p.Lys641Met)
n.2073A>T
c.1919A>T (p.Lys640Met)
c.2093A>T (p.Lys698Met)
7g.41972344T>CCA367321827GLI3c.2096A>G (p.Lys699Arg)
c.1922A>G (p.Lys641Arg)
n.2073A>G
c.1919A>G (p.Lys640Arg)
c.2093A>G (p.Lys698Arg)
7g.41972344T>GCA367321828GLI3c.2096A>C (p.Lys699Thr)
c.1922A>C (p.Lys641Thr)
n.2073A>C
c.1919A>C (p.Lys640Thr)
c.2093A>C (p.Lys698Thr)
7g.41972345T>ACA367321829GLI3c.2095A>T (p.Lys699Ter)
c.1921A>T (p.Lys641Ter)
n.2072A>T
c.1918A>T (p.Lys640Ter)
c.2092A>T (p.Lys698Ter)
7g.41972345T>CCA367321830GLI3c.2095A>G (p.Lys699Glu)
c.1921A>G (p.Lys641Glu)
n.2072A>G
c.1918A>G (p.Lys640Glu)
c.2092A>G (p.Lys698Glu)
7g.41972345T>GCA367321831GLI3c.2095A>C (p.Lys699Gln)
c.1921A>C (p.Lys641Gln)
n.2072A>C
c.1918A>C (p.Lys640Gln)
c.2092A>C (p.Lys698Gln)
7g.41972346C>ACA367321832GLI3c.2094G>T (p.Glu698Asp)
c.1920G>T (p.Glu640Asp)
n.2071G>T
c.1917G>T (p.Glu639Asp)
c.2091G>T (p.Glu697Asp)
7g.41972346C=CA1702647636GLI3c.2094G= (p.Glu698=)
c.1920G= (p.Glu640=)
n.2071G=
c.1917G= (p.Glu639=)
c.2091G= (p.Glu697=)
7g.41972346C>GCA367321833GLI3c.2094G>C (p.Glu698Asp)
c.1920G>C (p.Glu640Asp)
n.2071G>C
c.1917G>C (p.Glu639Asp)
c.2091G>C (p.Glu697Asp)
7g.41972346C>TCA4230692GLI3c.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
7g.41972347T>ACA367321834GLI3c.2093A>T (p.Glu698Val)
c.1919A>T (p.Glu640Val)
n.2070A>T
c.1916A>T (p.Glu639Val)
c.2090A>T (p.Glu697Val)
7g.41972347T>CCA367321835GLI3c.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
7g.41972347T>GCA367321836GLI3c.2093A>C (p.Glu698Ala)
c.1919A>C (p.Glu640Ala)
n.2070A>C
c.1916A>C (p.Glu639Ala)
c.2090A>C (p.Glu697Ala)
7g.41972347T=CA1702647637GLI3c.2093A= (p.Glu698=)
c.1919A= (p.Glu640=)
n.2070A=
c.1916A= (p.Glu639=)
c.2090A= (p.Glu697=)
7g.41972348C>ACA367321839GLI3c.2092G>T (p.Glu698Ter)
c.1918G>T (p.Glu640Ter)
n.2069G>T
c.1915G>T (p.Glu639Ter)
c.2089G>T (p.Glu697Ter)
7g.41972348C>GCA367321837GLI3c.2092G>C (p.Glu698Gln)
c.1918G>C (p.Glu640Gln)
n.2069G>C
c.1915G>C (p.Glu639Gln)
c.2089G>C (p.Glu697Gln)
7g.41972348C>TCA367321838GLI3c.2092G>A (p.Glu698Lys)
c.1918G>A (p.Glu640Lys)
n.2069G>A
c.1915G>A (p.Glu639Lys)
c.2089G>A (p.Glu697Lys)
7g.41972349T>ACA454525400GLI3c.2091A>T (p.Ala697=)
c.1917A>T (p.Ala639=)
n.2068A>T
c.1914A>T (p.Ala638=)
c.2088A>T (p.Ala696=)
7g.41972349T>CCA454525401GLI3c.2091A>G (p.Ala697=)
c.1917A>G (p.Ala639=)
n.2068A>G
c.1914A>G (p.Ala638=)
c.2088A>G (p.Ala696=)
7g.41972349T>GCA454525402GLI3c.2091A>C (p.Ala697=)
c.1917A>C (p.Ala639=)
n.2068A>C
c.1914A>C (p.Ala638=)
c.2088A>C (p.Ala696=)
7g.41972350delCA2499218887GLI3c.2090del (p.Ala697GlufsTer5)
c.1916del (p.Ala639GlufsTer5)
n.2067del
c.1913del (p.Ala638GlufsTer5)
c.2087del (p.Ala696GlufsTer5)
 ClinVar dbSNP
7g.41972350G>ACA367321840GLI3c.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
7g.41972350G>CCA367321841GLI3c.2090C>G (p.Ala697Gly)
c.1916C>G (p.Ala639Gly)
n.2067C>G
c.1913C>G (p.Ala638Gly)
c.2087C>G (p.Ala696Gly)
7g.41972350G=CA1702647640GLI3c.2090C= (p.Ala697=)
c.1916C= (p.Ala639=)
n.2067C=
c.1913C= (p.Ala638=)
c.2087C= (p.Ala696=)
7g.41972350G>TCA367321842GLI3c.2090C>A (p.Ala697Glu)
c.1916C>A (p.Ala639Glu)
n.2067C>A
c.1913C>A (p.Ala638Glu)
c.2087C>A (p.Ala696Glu)
7g.41972351C>ACA367321843GLI3c.2089G>T (p.Ala697Ser)
c.1915G>T (p.Ala639Ser)
n.2066G>T
c.1912G>T (p.Ala638Ser)
c.2086G>T (p.Ala696Ser)
7g.41972351C>GCA367321844GLI3c.2089G>C (p.Ala697Pro)
c.1915G>C (p.Ala639Pro)
n.2066G>C
c.1912G>C (p.Ala638Pro)
c.2086G>C (p.Ala696Pro)
7g.41972351C>TCA367321845GLI3c.2089G>A (p.Ala697Thr)
c.1915G>A (p.Ala639Thr)
n.2066G>A
c.1912G>A (p.Ala638Thr)
c.2086G>A (p.Ala696Thr)
7g.41972352C>ACA367321846GLI3c.2088G>T (p.Lys696Asn)
c.1914G>T (p.Lys638Asn)
n.2065G>T
c.1911G>T (p.Lys637Asn)
c.2085G>T (p.Lys695Asn)
7g.41972352C>GCA367321847GLI3c.2088G>C (p.Lys696Asn)
c.1914G>C (p.Lys638Asn)
n.2065G>C
c.1911G>C (p.Lys637Asn)
c.2085G>C (p.Lys695Asn)
7g.41972352C>TCA454525407GLI3c.2088G>A (p.Lys696=)
c.1914G>A (p.Lys638=)
n.2065G>A
c.1911G>A (p.Lys637=)
c.2085G>A (p.Lys695=)
7g.41972353T>ACA367321848GLI3c.2087A>T (p.Lys696Met)
c.1913A>T (p.Lys638Met)
n.2064A>T
c.1910A>T (p.Lys637Met)
c.2084A>T (p.Lys695Met)
7g.41972353T>CCA367321849GLI3c.2087A>G (p.Lys696Arg)
c.1913A>G (p.Lys638Arg)
n.2064A>G
c.1910A>G (p.Lys637Arg)
c.2084A>G (p.Lys695Arg)
7g.41972353T>GCA367321850GLI3c.2087A>C (p.Lys696Thr)
c.1913A>C (p.Lys638Thr)
n.2064A>C
c.1910A>C (p.Lys637Thr)
c.2084A>C (p.Lys695Thr)
7g.41972354T>ACA367321852GLI3c.2086A>T (p.Lys696Ter)
c.1912A>T (p.Lys638Ter)
n.2063A>T
c.1909A>T (p.Lys637Ter)
c.2083A>T (p.Lys695Ter)
7g.41972354T>CCA367321851GLI3c.2086A>G (p.Lys696Glu)
c.1912A>G (p.Lys638Glu)
n.2063A>G
c.1909A>G (p.Lys637Glu)
c.2083A>G (p.Lys695Glu)
 gnomAD v4
7g.41972354T>GCA4230693GLI3c.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
7g.41972354T=CA1702647643GLI3c.2086A= (p.Lys696=)
c.1912A= (p.Lys638=)
n.2063A=
c.1909A= (p.Lys637=)
c.2083A= (p.Lys695=)
7g.41972355G>ACA454525413GLI3c.2085C>T (p.Val695=)
c.1911C>T (p.Val637=)
n.2062C>T
c.1908C>T (p.Val636=)
c.2082C>T (p.Val694=)
7g.41972355G>CCA454525415GLI3c.2085C>G (p.Val695=)
c.1911C>G (p.Val637=)
n.2062C>G
c.1908C>G (p.Val636=)
c.2082C>G (p.Val694=)
 gnomAD v4
7g.41972355G=CA1702647646GLI3c.2085C= (p.Val695=)
c.1911C= (p.Val637=)
n.2062C=
c.1908C= (p.Val636=)
c.2082C= (p.Val694=)
7g.41972355G>TCA454525418GLI3c.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
7g.41972356A>CCA367321853GLI3c.2084T>G (p.Val695Gly)
c.1910T>G (p.Val637Gly)
n.2061T>G
c.1907T>G (p.Val636Gly)
c.2081T>G (p.Val694Gly)
7g.41972356A>GCA367321854GLI3c.2084T>C (p.Val695Ala)
c.1910T>C (p.Val637Ala)
n.2061T>C
c.1907T>C (p.Val636Ala)
c.2081T>C (p.Val694Ala)
7g.41972356A>TCA367321855GLI3c.2084T>A (p.Val695Asp)
c.1910T>A (p.Val637Asp)
n.2061T>A
c.1907T>A (p.Val636Asp)
c.2081T>A (p.Val694Asp)
7g.41972357C>ACA156913583GLI3c.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
7g.41972357C=CA1702647650GLI3c.2083G= (p.Val695=)
c.1909G= (p.Val637=)
n.2060G=
c.1906G= (p.Val636=)
c.2080G= (p.Val694=)
7g.41972357C>GCA367321856GLI3c.2083G>C (p.Val695Leu)
c.1909G>C (p.Val637Leu)
n.2060G>C
c.1906G>C (p.Val636Leu)
c.2080G>C (p.Val694Leu)
 dbSNP
7g.41972357C>TCA4230694GLI3c.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
7g.41972357_41972358delinsGGCTTCTCTCA2695207655GLI3c.2082_2083delinsAGAGAAGCC (p.Val695GlufsTer?)
c.1908_1909delinsAGAGAAGCC (p.Val637GlufsTer?)
n.2059_2060delinsAGAGAAGCC
c.1905_1906delinsAGAGAAGCC (p.Val636GlufsTer?)
c.2079_2080delinsAGAGAAGCC (p.Val694GlufsTer?)
7g.41972358G>ACA4230695GLI3c.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
7g.41972358G>CCA454525424GLI3c.2082C>G (p.Thr694=)
c.1908C>G (p.Thr636=)
n.2059C>G
c.1905C>G (p.Thr635=)
c.2079C>G (p.Thr693=)
7g.41972358G=CA1702647655GLI3c.2082C= (p.Thr694=)
c.1908C= (p.Thr636=)
n.2059C=
c.1905C= (p.Thr635=)
c.2079C= (p.Thr693=)
7g.41972358G>TCA454525425GLI3c.2082C>A (p.Thr694=)
c.1908C>A (p.Thr636=)
n.2059C>A
c.1905C>A (p.Thr635=)
c.2079C>A (p.Thr693=)
 gnomAD v4
7g.41972359G>ACA367321857GLI3c.2081C>T (p.Thr694Ile)
c.1907C>T (p.Thr636Ile)
n.2058C>T
c.1904C>T (p.Thr635Ile)
c.2078C>T (p.Thr693Ile)
7g.41972359G>CCA367321858GLI3c.2081C>G (p.Thr694Ser)
c.1907C>G (p.Thr636Ser)
n.2058C>G
c.1904C>G (p.Thr635Ser)
c.2078C>G (p.Thr693Ser)
7g.41972359G>TCA367321859GLI3c.2081C>A (p.Thr694Asn)
c.1907C>A (p.Thr636Asn)
n.2058C>A
c.1904C>A (p.Thr635Asn)
c.2078C>A (p.Thr693Asn)
7g.41972360T>ACA367321860GLI3c.2080A>T (p.Thr694Ser)
c.1906A>T (p.Thr636Ser)
n.2057A>T
c.1903A>T (p.Thr635Ser)
c.2077A>T (p.Thr693Ser)
 COSMIC
7g.41972360T>CCA367321861GLI3c.2080A>G (p.Thr694Ala)
c.1906A>G (p.Thr636Ala)
n.2057A>G
c.1903A>G (p.Thr635Ala)
c.2077A>G (p.Thr693Ala)
7g.41972360T>GCA367321862GLI3c.2080A>C (p.Thr694Pro)
c.1906A>C (p.Thr636Pro)
n.2057A>C
c.1903A>C (p.Thr635Pro)
c.2077A>C (p.Thr693Pro)
 dbSNP
7g.41972360T=CA1702647659GLI3c.2080A= (p.Thr694=)
c.1906A= (p.Thr636=)
n.2057A=
c.1903A= (p.Thr635=)
c.2077A= (p.Thr693=)
7g.41972363delCA2695207656GLI3c.2080del (p.Thr694ProfsTer8)
c.1906del (p.Thr636ProfsTer8)
n.2057del
c.1903del (p.Thr635ProfsTer8)
c.2077del (p.Thr693ProfsTer8)
7g.41972361T>ACA367321864GLI3c.2079A>T (p.Lys693Asn)
c.1905A>T (p.Lys635Asn)
n.2056A>T
c.1902A>T (p.Lys634Asn)
c.2076A>T (p.Lys692Asn)
7g.41972361T>CCA4230696GLI3c.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
7g.41972361T>GCA367321863GLI3c.2079A>C (p.Lys693Asn)
c.1905A>C (p.Lys635Asn)
n.2056A>C
c.1902A>C (p.Lys634Asn)
c.2076A>C (p.Lys692Asn)
7g.41972361T=CA1702647661GLI3c.2079A= (p.Lys693=)
c.1905A= (p.Lys635=)
n.2056A=
c.1902A= (p.Lys634=)
c.2076A= (p.Lys692=)
7g.41972362T>ACA367321865GLI3c.2078A>T (p.Lys693Ile)
c.1904A>T (p.Lys635Ile)
n.2055A>T
c.1901A>T (p.Lys634Ile)
c.2075A>T (p.Lys692Ile)
7g.41972362T>CCA367321866GLI3c.2078A>G (p.Lys693Arg)
c.1904A>G (p.Lys635Arg)
n.2055A>G
c.1901A>G (p.Lys634Arg)
c.2075A>G (p.Lys692Arg)
7g.41972362T>GCA367321867GLI3c.2078A>C (p.Lys693Thr)
c.1904A>C (p.Lys635Thr)
n.2055A>C
c.1901A>C (p.Lys634Thr)
c.2075A>C (p.Lys692Thr)
7g.41972363T>ACA367321868GLI3c.2077A>T (p.Lys693Ter)
c.1903A>T (p.Lys635Ter)
n.2054A>T
c.1900A>T (p.Lys634Ter)
c.2074A>T (p.Lys692Ter)
7g.41972363T>CCA367321869GLI3c.2077A>G (p.Lys693Glu)
c.1903A>G (p.Lys635Glu)
n.2054A>G
c.1900A>G (p.Lys634Glu)
c.2074A>G (p.Lys692Glu)
7g.41972363T>GCA367321870GLI3c.2077A>C (p.Lys693Gln)
c.1903A>C (p.Lys635Gln)
n.2054A>C
c.1900A>C (p.Lys634Gln)
c.2074A>C (p.Lys692Gln)
7g.41972364C>ACA454525441GLI3c.2076G>T (p.Val692=)
c.1902G>T (p.Val634=)
n.2053G>T
c.1899G>T (p.Val633=)
c.2073G>T (p.Val691=)
7g.41972364C>GCA454525442GLI3c.2076G>C (p.Val692=)
c.1902G>C (p.Val634=)
n.2053G>C
c.1899G>C (p.Val633=)
c.2073G>C (p.Val691=)
7g.41972364C>TCA454525443GLI3c.2076G>A (p.Val692=)
c.1902G>A (p.Val634=)
n.2053G>A
c.1899G>A (p.Val633=)
c.2073G>A (p.Val691=)
7g.41972365A>CCA367321871GLI3c.2075T>G (p.Val692Gly)
c.1901T>G (p.Val634Gly)
n.2052T>G
c.1898T>G (p.Val633Gly)
c.2072T>G (p.Val691Gly)
7g.41972365A>GCA367321872GLI3c.2075T>C (p.Val692Ala)
c.1901T>C (p.Val634Ala)
n.2052T>C
c.1898T>C (p.Val633Ala)
c.2072T>C (p.Val691Ala)
7g.41972365A>TCA367321873GLI3c.2075T>A (p.Val692Glu)
c.1901T>A (p.Val634Glu)
n.2052T>A
c.1898T>A (p.Val633Glu)
c.2072T>A (p.Val691Glu)
7g.41972366C>ACA367321874GLI3c.2074G>T (p.Val692Leu)
c.1900G>T (p.Val634Leu)
n.2051G>T
c.1897G>T (p.Val633Leu)
c.2071G>T (p.Val691Leu)
7g.41972366C>GCA367321875GLI3c.2074G>C (p.Val692Leu)
c.1900G>C (p.Val634Leu)
n.2051G>C
c.1897G>C (p.Val633Leu)
c.2071G>C (p.Val691Leu)
7g.41972366C>TCA367321876GLI3c.2074G>A (p.Val692Met)
c.1900G>A (p.Val634Met)
n.2051G>A
c.1897G>A (p.Val633Met)
c.2071G>A (p.Val691Met)
 gnomAD v4
7g.41972367C>ACA4230697GLI3c.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
7g.41972367C=CA1702647666GLI3c.2073G= (p.Gln691=)
c.1899G= (p.Gln633=)
n.2050G=
c.1896G= (p.Gln632=)
c.2070G= (p.Gln690=)
7g.41972367C>GCA367321877GLI3c.2073G>C (p.Gln691His)
c.1899G>C (p.Gln633His)
n.2050G>C
c.1896G>C (p.Gln632His)
c.2070G>C (p.Gln690His)
7g.41972367C>TCA454525452GLI3c.2073G>A (p.Gln691=)
c.1899G>A (p.Gln633=)
n.2050G>A
c.1896G>A (p.Gln632=)
c.2070G>A (p.Gln690=)
7g.41972368delCA2695207658GLI3c.2072del (p.Gln691ArgfsTer2)
c.1898del (p.Gln633ArgfsTer2)
n.2049del
c.1895del (p.Gln632ArgfsTer2)
c.2069del (p.Gln690ArgfsTer2)
7g.41972368T>ACA367321878GLI3c.2072A>T (p.Gln691Leu)
c.1898A>T (p.Gln633Leu)
n.2049A>T
c.1895A>T (p.Gln632Leu)
c.2069A>T (p.Gln690Leu)
7g.41972368T>CCA4230698GLI3c.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
7g.41972368T>GCA367321879GLI3c.2072A>C (p.Gln691Pro)
c.1898A>C (p.Gln633Pro)
n.2049A>C
c.1895A>C (p.Gln632Pro)
c.2069A>C (p.Gln690Pro)
7g.41972368T=CA1702647671GLI3c.2072A= (p.Gln691=)
c.1898A= (p.Gln633=)
n.2049A=
c.1895A= (p.Gln632=)
c.2069A= (p.Gln690=)
7g.41972369G>ACA367321880GLI3c.2071C>T (p.Gln691Ter)
c.1897C>T (p.Gln633Ter)
n.2048C>T
c.1894C>T (p.Gln632Ter)
c.2068C>T (p.Gln690Ter)
 ClinVar dbSNP
7g.41972369G>CCA367321882GLI3c.2071C>G (p.Gln691Glu)
c.1897C>G (p.Gln633Glu)
n.2048C>G
c.1894C>G (p.Gln632Glu)
c.2068C>G (p.Gln690Glu)
7g.41972369G=CA1702647674GLI3c.2071C= (p.Gln691=)
c.1897C= (p.Gln633=)
n.2048C=
c.1894C= (p.Gln632=)
c.2068C= (p.Gln690=)
7g.41972369G>TCA367321881GLI3c.2071C>A (p.Gln691Lys)
c.1897C>A (p.Gln633Lys)
n.2048C>A
c.1894C>A (p.Gln632Lys)
c.2068C>A (p.Gln690Lys)
7g.41972370G>ACA454525458GLI3c.2070C>T (p.Leu690=)
c.1896C>T (p.Leu632=)
n.2047C>T
c.1893C>T (p.Leu631=)
c.2067C>T (p.Leu689=)
 gnomAD v4
7g.41972370G>CCA454525459GLI3c.2070C>G (p.Leu690=)
c.1896C>G (p.Leu632=)
n.2047C>G
c.1893C>G (p.Leu631=)
c.2067C>G (p.Leu689=)
7g.41972370G>TCA454525460GLI3c.2070C>A (p.Leu690=)
c.1896C>A (p.Leu632=)
n.2047C>A
c.1893C>A (p.Leu631=)
c.2067C>A (p.Leu689=)
7g.41972371A>CCA367321883GLI3c.2069T>G (p.Leu690Arg)
c.1895T>G (p.Leu632Arg)
n.2046T>G
c.1892T>G (p.Leu631Arg)
c.2066T>G (p.Leu689Arg)
7g.41972371A>GCA367321884GLI3c.2069T>C (p.Leu690Pro)
c.1895T>C (p.Leu632Pro)
n.2046T>C
c.1892T>C (p.Leu631Pro)
c.2066T>C (p.Leu689Pro)
7g.41972371A>TCA367321885GLI3c.2069T>A (p.Leu690His)
c.1895T>A (p.Leu632His)
n.2046T>A
c.1892T>A (p.Leu631His)
c.2066T>A (p.Leu689His)
7g.41972372G>ACA367321886GLI3c.2068C>T (p.Leu690Phe)
c.1894C>T (p.Leu632Phe)
n.2045C>T
c.1891C>T (p.Leu631Phe)
c.2065C>T (p.Leu689Phe)
 gnomAD v4
7g.41972372G>CCA367321887GLI3c.2068C>G (p.Leu690Val)
c.1894C>G (p.Leu632Val)
n.2045C>G
c.1891C>G (p.Leu631Val)
c.2065C>G (p.Leu689Val)
7g.41972372G>TCA367321888GLI3c.2068C>A (p.Leu690Ile)
c.1894C>A (p.Leu632Ile)
n.2045C>A
c.1891C>A (p.Leu631Ile)
c.2065C>A (p.Leu689Ile)
7g.41972373G>ACA454525473GLI3c.2067C>T (p.Cys689=)
c.1893C>T (p.Cys631=)
n.2044C>T
c.1890C>T (p.Cys630=)
c.2064C>T (p.Cys688=)
 COSMIC
7g.41972373G>CCA367321889GLI3c.2067C>G (p.Cys689Trp)
c.1893C>G (p.Cys631Trp)
n.2044C>G
c.1890C>G (p.Cys630Trp)
c.2064C>G (p.Cys688Trp)
7g.41972373G>TCA367321890GLI3c.2067C>A (p.Cys689Ter)
c.1893C>A (p.Cys631Ter)
n.2044C>A
c.1890C>A (p.Cys630Ter)
c.2064C>A (p.Cys688Ter)
7g.41972374C>ACA367321891GLI3c.2066G>T (p.Cys689Phe)
c.1892G>T (p.Cys631Phe)
n.2043G>T
c.1889G>T (p.Cys630Phe)
c.2063G>T (p.Cys688Phe)
7g.41972374C>GCA367321892GLI3c.2066G>C (p.Cys689Ser)
c.1892G>C (p.Cys631Ser)
n.2043G>C
c.1889G>C (p.Cys630Ser)
c.2063G>C (p.Cys688Ser)
 gnomAD v4
7g.41972374C>TCA367321893GLI3c.2066G>A (p.Cys689Tyr)
c.1892G>A (p.Cys631Tyr)
n.2043G>A
c.1889G>A (p.Cys630Tyr)
c.2063G>A (p.Cys688Tyr)
7g.41972375A>CCA367321896GLI3c.2065T>G (p.Cys689Gly)
c.1891T>G (p.Cys631Gly)
n.2042T>G
c.1888T>G (p.Cys630Gly)
c.2062T>G (p.Cys688Gly)
7g.41972375A>GCA367321894GLI3c.2065T>C (p.Cys689Arg)
c.1891T>C (p.Cys631Arg)
n.2042T>C
c.1888T>C (p.Cys630Arg)
c.2062T>C (p.Cys688Arg)
7g.41972375A>TCA367321895GLI3c.2065T>A (p.Cys689Ser)
c.1891T>A (p.Cys631Ser)
n.2042T>A
c.1888T>A (p.Cys630Ser)
c.2062T>A (p.Cys688Ser)
7g.41972376T>ACA367321897GLI3c.2064A>T (p.Glu688Asp)
c.1890A>T (p.Glu630Asp)
n.2041A>T
c.1887A>T (p.Glu629Asp)
c.2061A>T (p.Glu687Asp)
7g.41972376T>CCA454525476GLI3c.2064A>G (p.Glu688=)
c.1890A>G (p.Glu630=)
n.2041A>G
c.1887A>G (p.Glu629=)
c.2061A>G (p.Glu687=)
7g.41972376T>GCA367321898GLI3c.2064A>C (p.Glu688Asp)
c.1890A>C (p.Glu630Asp)
n.2041A>C
c.1887A>C (p.Glu629Asp)
c.2061A>C (p.Glu687Asp)
7g.41972377T>ACA367321899GLI3c.2063A>T (p.Glu688Val)
c.1889A>T (p.Glu630Val)
n.2040A>T
c.1886A>T (p.Glu629Val)
c.2060A>T (p.Glu687Val)
7g.41972377T>CCA367321900GLI3c.2063A>G (p.Glu688Gly)
c.1889A>G (p.Glu630Gly)
n.2040A>G
c.1886A>G (p.Glu629Gly)
c.2060A>G (p.Glu687Gly)
7g.41972377T>GCA367321901GLI3c.2063A>C (p.Glu688Ala)
c.1889A>C (p.Glu630Ala)
n.2040A>C
c.1886A>C (p.Glu629Ala)
c.2060A>C (p.Glu687Ala)
7g.41972378C>ACA342916GLI3c.2062G>T (p.Glu688Ter)
c.1888G>T (p.Glu630Ter)
n.2039G>T
c.1885G>T (p.Glu629Ter)
c.2059G>T (p.Glu687Ter)
 dbSNP
7g.41972378C=CA1702647682GLI3c.2062G= (p.Glu688=)
c.1888G= (p.Glu630=)
n.2039G=
c.1885G= (p.Glu629=)
c.2059G= (p.Glu687=)
7g.41972378C>GCA367321902GLI3c.2062G>C (p.Glu688Gln)
c.1888G>C (p.Glu630Gln)
n.2039G>C
c.1885G>C (p.Glu629Gln)
c.2059G>C (p.Glu687Gln)
7g.41972378C>TCA367321903GLI3c.2062G>A (p.Glu688Lys)
c.1888G>A (p.Glu630Lys)
n.2039G>A
c.1885G>A (p.Glu629Lys)
c.2059G>A (p.Glu687Lys)
7g.41972379T>ACA367321904GLI3c.2061A>T (p.Glu687Asp)
c.1887A>T (p.Glu629Asp)
n.2038A>T
c.1884A>T (p.Glu628Asp)
c.2058A>T (p.Glu686Asp)
7g.41972379T>CCA454525490GLI3c.2061A>G (p.Glu687=)
c.1887A>G (p.Glu629=)
n.2038A>G
c.1884A>G (p.Glu628=)
c.2058A>G (p.Glu686=)
7g.41972379T>GCA367321905GLI3c.2061A>C (p.Glu687Asp)
c.1887A>C (p.Glu629Asp)
n.2038A>C
c.1884A>C (p.Glu628Asp)
c.2058A>C (p.Glu686Asp)
7g.41972380T>ACA367321908GLI3c.2060A>T (p.Glu687Val)
c.1886A>T (p.Glu629Val)
n.2037A>T
c.1883A>T (p.Glu628Val)
c.2057A>T (p.Glu686Val)
7g.41972380T>CCA367321907GLI3c.2060A>G (p.Glu687Gly)
c.1886A>G (p.Glu629Gly)
n.2037A>G
c.1883A>G (p.Glu628Gly)
c.2057A>G (p.Glu686Gly)
7g.41972380T>GCA367321906GLI3c.2060A>C (p.Glu687Ala)
c.1886A>C (p.Glu629Ala)
n.2037A>C
c.1883A>C (p.Glu628Ala)
c.2057A>C (p.Glu686Ala)
7g.41972381C>ACA367321909GLI3c.2059G>T (p.Glu687Ter)
c.1885G>T (p.Glu629Ter)
n.2036G>T
c.1882G>T (p.Glu628Ter)
c.2056G>T (p.Glu686Ter)
7g.41972381C>GCA367321910GLI3c.2059G>C (p.Glu687Gln)
c.1885G>C (p.Glu629Gln)
n.2036G>C
c.1882G>C (p.Glu628Gln)
c.2056G>C (p.Glu686Gln)
7g.41972381C>TCA367321911GLI3c.2059G>A (p.Glu687Lys)
c.1885G>A (p.Glu629Lys)
n.2036G>A
c.1882G>A (p.Glu628Lys)
c.2056G>A (p.Glu686Lys)
7g.41972381_41972382delinsATCA342914GLI3c.2058_2059delinsAT (p.Arg687Ter)
c.1884_1885delinsAT (p.Arg629Ter)
n.2035_2036delinsAT
c.1881_1882delinsAT (p.Arg628Ter)
c.2055_2056delinsAT (p.Arg686Ter)
 dbSNP
7g.41972381_41972382delinsCCCA1702647690GLI3c.2058_2059delinsGG (p.Arg686=)
c.1884_1885delinsGG (p.Arg628=)
n.2035_2036delinsGG
c.1881_1882delinsGG (p.Arg627=)
c.2055_2056delinsGG (p.Arg685=)
7g.41972383delCA2499218888GLI3c.2059del (p.Glu687LysfsTer6)
c.1885del (p.Glu629LysfsTer6)
n.2036del
c.1882del (p.Glu628LysfsTer6)
c.2056del (p.Glu686LysfsTer6)
 ClinVar dbSNP
7g.41972382C>ACA454525493GLI3c.2058G>T (p.Arg686=)
c.1884G>T (p.Arg628=)
n.2035G>T
c.1881G>T (p.Arg627=)
c.2055G>T (p.Arg685=)
7g.41972382C=CA1702647695GLI3c.2058G= (p.Arg686=)
c.1884G= (p.Arg628=)
n.2035G=
c.1881G= (p.Arg627=)
c.2055G= (p.Arg685=)
7g.41972382C>GCA454525495GLI3c.2058G>C (p.Arg686=)
c.1884G>C (p.Arg628=)
n.2035G>C
c.1881G>C (p.Arg627=)
c.2055G>C (p.Arg685=)
 gnomAD v4
7g.41972382C>TCA454525496GLI3c.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
7g.41972383C>ACA367321912GLI3c.2057G>T (p.Arg686Leu)
c.1883G>T (p.Arg628Leu)
n.2034G>T
c.1880G>T (p.Arg627Leu)
c.2054G>T (p.Arg685Leu)
7g.41972383C=CA1702647698GLI3c.2057G= (p.Arg686=)
c.1883G= (p.Arg628=)
n.2034G=
c.1880G= (p.Arg627=)
c.2054G= (p.Arg685=)
7g.41972383C>GCA367321913GLI3c.2057G>C (p.Arg686Pro)
c.1883G>C (p.Arg628Pro)
n.2034G>C
c.1880G>C (p.Arg627Pro)
c.2054G>C (p.Arg685Pro)
7g.41972383C>TCA4230699GLI3c.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
7g.41972384G>ACA4230700GLI3c.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
7g.41972384G>CCA367321915GLI3c.2056C>G (p.Arg686Gly)
c.1882C>G (p.Arg628Gly)
n.2033C>G
c.1879C>G (p.Arg627Gly)
c.2053C>G (p.Arg685Gly)
7g.41972384G=CA1702647702GLI3c.2056C= (p.Arg686=)
c.1882C= (p.Arg628=)
n.2033C=
c.1879C= (p.Arg627=)
c.2053C= (p.Arg685=)
7g.41972384G>TCA454525501GLI3c.2056C>A (p.Arg686=)
c.1882C>A (p.Arg628=)
n.2033C>A
c.1879C>A (p.Arg627=)
c.2053C>A (p.Arg685=)
7g.41972385C>ACA367321916GLI3c.2055G>T (p.Lys685Asn)
c.1881G>T (p.Lys627Asn)
n.2032G>T
c.1878G>T (p.Lys626Asn)
c.2052G>T (p.Lys684Asn)
7g.41972385C>GCA367321917GLI3c.2055G>C (p.Lys685Asn)
c.1881G>C (p.Lys627Asn)
n.2032G>C
c.1878G>C (p.Lys626Asn)
c.2052G>C (p.Lys684Asn)
7g.41972385C>TCA454525504GLI3c.2055G>A (p.Lys685=)
c.1881G>A (p.Lys627=)
n.2032G>A
c.1878G>A (p.Lys626=)
c.2052G>A (p.Lys684=)
7g.41972386T>ACA4230701GLI3c.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
7g.41972386T>CCA367321919GLI3c.2054A>G (p.Lys685Arg)
c.1880A>G (p.Lys627Arg)
n.2031A>G
c.1877A>G (p.Lys626Arg)
c.2051A>G (p.Lys684Arg)
 gnomAD v4
7g.41972386T>GCA367321918GLI3c.2054A>C (p.Lys685Thr)
c.1880A>C (p.Lys627Thr)
n.2031A>C
c.1877A>C (p.Lys626Thr)
c.2051A>C (p.Lys684Thr)
7g.41972386T=CA1702647706GLI3c.2054A= (p.Lys685=)
c.1880A= (p.Lys627=)
n.2031A=
c.1877A= (p.Lys626=)
c.2051A= (p.Lys684=)
7g.41972388dupCA2695207659GLI3c.2054dup (p.Arg686AlafsTer?)
c.1880dup (p.Arg628AlafsTer?)
n.2031dup
c.1877dup (p.Arg627AlafsTer?)
c.2051dup (p.Arg685AlafsTer?)
7g.41972387T>ACA4230702GLI3c.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
7g.41972387T>CCA367321920GLI3c.2053A>G (p.Lys685Glu)
c.1879A>G (p.Lys627Glu)
n.2030A>G
c.1876A>G (p.Lys626Glu)
c.2050A>G (p.Lys684Glu)
7g.41972387T>GCA367321921GLI3c.2053A>C (p.Lys685Gln)
c.1879A>C (p.Lys627Gln)
n.2030A>C
c.1876A>C (p.Lys626Gln)
c.2050A>C (p.Lys684Gln)
7g.41972387T=CA1702647710GLI3c.2053A= (p.Lys685=)
c.1879A= (p.Lys627=)
n.2030A=
c.1876A= (p.Lys626=)
c.2050A= (p.Lys684=)
7g.41972388T>ACA454525509GLI3c.2052A>T (p.Ser684=)
c.1878A>T (p.Ser626=)
n.2029A>T
c.1875A>T (p.Ser625=)
c.2049A>T (p.Ser683=)
7g.41972388T>CCA454525508GLI3c.2052A>G (p.Ser684=)
c.1878A>G (p.Ser626=)
n.2029A>G
c.1875A>G (p.Ser625=)
c.2049A>G (p.Ser683=)
7g.41972388T>GCA454525507GLI3c.2052A>C (p.Ser684=)
c.1878A>C (p.Ser626=)
n.2029A>C
c.1875A>C (p.Ser625=)
c.2049A>C (p.Ser683=)
 gnomAD v4
7g.41972389G>ACA367321922GLI3c.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
7g.41972389G>CCA367321923GLI3c.2051C>G (p.Ser684Ter)
c.1877C>G (p.Ser626Ter)
n.2028C>G
c.1874C>G (p.Ser625Ter)
c.2048C>G (p.Ser683Ter)
7g.41972389G>TCA367321924GLI3c.2051C>A (p.Ser684Ter)
c.1877C>A (p.Ser626Ter)
n.2028C>A
c.1874C>A (p.Ser625Ter)
c.2048C>A (p.Ser683Ter)
7g.41972390A>CCA367321925GLI3c.2050T>G (p.Ser684Ala)
c.1876T>G (p.Ser626Ala)
n.2027T>G
c.1873T>G (p.Ser625Ala)
c.2047T>G (p.Ser683Ala)
7g.41972390A>GCA367321926GLI3c.2050T>C (p.Ser684Pro)
c.1876T>C (p.Ser626Pro)
n.2027T>C
c.1873T>C (p.Ser625Pro)
c.2047T>C (p.Ser683Pro)
7g.41972390A>TCA367321927GLI3c.2050T>A (p.Ser684Thr)
c.1876T>A (p.Ser626Thr)
n.2027T>A
c.1873T>A (p.Ser625Thr)
c.2047T>A (p.Ser683Thr)
7g.41972391G>ACA454525518GLI3c.2049C>T (p.Thr683=)
c.1875C>T (p.Thr625=)
n.2026C>T
c.1872C>T (p.Thr624=)
c.2046C>T (p.Thr682=)
 dbSNP
7g.41972391G>CCA454525517GLI3c.2049C>G (p.Thr683=)
c.1875C>G (p.Thr625=)
n.2026C>G
c.1872C>G (p.Thr624=)
c.2046C>G (p.Thr682=)
7g.41972391G=CA1702647713GLI3c.2049C= (p.Thr683=)
c.1875C= (p.Thr625=)
n.2026C=
c.1872C= (p.Thr624=)
c.2046C= (p.Thr682=)
7g.41972391G>TCA454525516GLI3c.2049C>A (p.Thr683=)
c.1875C>A (p.Thr625=)
n.2026C>A
c.1872C>A (p.Thr624=)
c.2046C>A (p.Thr682=)
7g.41972392G>ACA156913658GLI3c.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
7g.41972392G>CCA367321928GLI3c.2048C>G (p.Thr683Ser)
c.1874C>G (p.Thr625Ser)
n.2025C>G
c.1871C>G (p.Thr624Ser)
c.2045C>G (p.Thr682Ser)
7g.41972392G=CA1702647715GLI3c.2048C= (p.Thr683=)
c.1874C= (p.Thr625=)
n.2025C=
c.1871C= (p.Thr624=)
c.2045C= (p.Thr682=)
7g.41972392G>TCA367321929GLI3c.2048C>A (p.Thr683Asn)
c.1874C>A (p.Thr625Asn)
n.2025C>A
c.1871C>A (p.Thr624Asn)
c.2045C>A (p.Thr682Asn)
7g.41972393T>ACA367321931GLI3c.2047A>T (p.Thr683Ser)
c.1873A>T (p.Thr625Ser)
n.2024A>T
c.1870A>T (p.Thr624Ser)
c.2044A>T (p.Thr682Ser)
7g.41972393T>CCA367321932GLI3c.2047A>G (p.Thr683Ala)
c.1873A>G (p.Thr625Ala)
n.2024A>G
c.1870A>G (p.Thr624Ala)
c.2044A>G (p.Thr682Ala)
7g.41972393T>GCA367321930GLI3c.2047A>C (p.Thr683Pro)
c.1873A>C (p.Thr625Pro)
n.2024A>C
c.1870A>C (p.Thr624Pro)
c.2044A>C (p.Thr682Pro)
 dbSNP
7g.41972393T=CA1702647721GLI3c.2047A= (p.Thr683=)
c.1873A= (p.Thr625=)
n.2024A=
c.1870A= (p.Thr624=)
c.2044A= (p.Thr682=)
7g.41972394A=CA1702647724GLI3c.2046T= (p.Thr682=)
c.1872T= (p.Thr624=)
n.2023T=
c.1869T= (p.Thr623=)
c.2043T= (p.Thr681=)
7g.41972394A>CCA454525520GLI3c.2046T>G (p.Thr682=)
c.1872T>G (p.Thr624=)
n.2023T>G
c.1869T>G (p.Thr623=)
c.2043T>G (p.Thr681=)
 gnomAD v4
7g.41972394A>GCA4230703GLI3c.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
7g.41972394A>TCA454525524GLI3c.2046T>A (p.Thr682=)
c.1872T>A (p.Thr624=)
n.2023T>A
c.1869T>A (p.Thr623=)
c.2043T>A (p.Thr681=)
7g.41972395G>ACA4230704GLI3c.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
7g.41972395G>CCA367321933GLI3c.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
7g.41972395G=CA1702647726GLI3c.2045C= (p.Thr682=)
c.1871C= (p.Thr624=)
n.2022C=
c.1868C= (p.Thr623=)
c.2042C= (p.Thr681=)
7g.41972395G>TCA367321934GLI3c.2045C>A (p.Thr682Asn)
c.1871C>A (p.Thr624Asn)
n.2022C>A
c.1868C>A (p.Thr623Asn)
c.2042C>A (p.Thr681Asn)
7g.41972396T>ACA367321935GLI3c.2044A>T (p.Thr682Ser)
c.1870A>T (p.Thr624Ser)
n.2021A>T
c.1867A>T (p.Thr623Ser)
c.2041A>T (p.Thr681Ser)
7g.41972396T>CCA4230705GLI3c.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
7g.41972396T>GCA367321936GLI3c.2044A>C (p.Thr682Pro)
c.1870A>C (p.Thr624Pro)
n.2021A>C
c.1867A>C (p.Thr623Pro)
c.2041A>C (p.Thr681Pro)
7g.41972396T=CA1702647728GLI3c.2044A= (p.Thr682=)
c.1870A= (p.Thr624=)
n.2021A=
c.1867A= (p.Thr623=)
c.2041A= (p.Thr681=)
7g.41972397G>ACA454525526GLI3c.2043C>T (p.Asn681=)
c.1869C>T (p.Asn623=)
n.2020C>T
c.1866C>T (p.Asn622=)
c.2040C>T (p.Asn680=)
7g.41972397G>CCA367321937GLI3c.2043C>G (p.Asn681Lys)
c.1869C>G (p.Asn623Lys)
n.2020C>G
c.1866C>G (p.Asn622Lys)
c.2040C>G (p.Asn680Lys)
7g.41972397G>TCA367321938GLI3c.2043C>A (p.Asn681Lys)
c.1869C>A (p.Asn623Lys)
n.2020C>A
c.1866C>A (p.Asn622Lys)
c.2040C>A (p.Asn680Lys)
7g.41972398T>ACA367321939GLI3c.2042A>T (p.Asn681Ile)
c.1868A>T (p.Asn623Ile)
n.2019A>T
c.1865A>T (p.Asn622Ile)
c.2039A>T (p.Asn680Ile)
7g.41972398T>CCA367321940GLI3c.2042A>G (p.Asn681Ser)
c.1868A>G (p.Asn623Ser)
n.2019A>G
c.1865A>G (p.Asn622Ser)
c.2039A>G (p.Asn680Ser)
7g.41972398T>GCA367321941GLI3c.2042A>C (p.Asn681Thr)
c.1868A>C (p.Asn623Thr)
n.2019A>C
c.1865A>C (p.Asn622Thr)
c.2039A>C (p.Asn680Thr)
 gnomAD v4
7g.41972399T>ACA367321942GLI3c.2041A>T (p.Asn681Tyr)
c.1867A>T (p.Asn623Tyr)
n.2018A>T
c.1864A>T (p.Asn622Tyr)
c.2038A>T (p.Asn680Tyr)
7g.41972399T>CCA367321943GLI3c.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
7g.41972399T>GCA367321944GLI3c.2041A>C (p.Asn681His)
c.1867A>C (p.Asn623His)
n.2018A>C
c.1864A>C (p.Asn622His)
c.2038A>C (p.Asn680His)
7g.41972399T=CA1702647731GLI3c.2041A= (p.Asn681=)
c.1867A= (p.Asn623=)
n.2018A=
c.1864A= (p.Asn622=)
c.2038A= (p.Asn680=)
7g.41972400G>ACA454525530GLI3c.2040C>T (p.Ser680=)
c.1866C>T (p.Ser622=)
n.2017C>T
c.1863C>T (p.Ser621=)
c.2037C>T (p.Ser679=)
7g.41972400G>CCA367321945GLI3c.2040C>G (p.Ser680Arg)
c.1866C>G (p.Ser622Arg)
n.2017C>G
c.1863C>G (p.Ser621Arg)
c.2037C>G (p.Ser679Arg)
7g.41972400G=CA1702647734GLI3c.2040C= (p.Ser680=)
c.1866C= (p.Ser622=)
n.2017C=
c.1863C= (p.Ser621=)
c.2037C= (p.Ser679=)
7g.41972400G>TCA367321946GLI3c.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
7g.41972401C>ACA367321947GLI3c.2039G>T (p.Ser680Ile)
c.1865G>T (p.Ser622Ile)
n.2016G>T
c.1862G>T (p.Ser621Ile)
c.2036G>T (p.Ser679Ile)
7g.41972401C=CA1702647738GLI3c.2039G= (p.Ser680=)
c.1865G= (p.Ser622=)
n.2016G=
c.1862G= (p.Ser621=)
c.2036G= (p.Ser679=)
7g.41972401C>GCA367321948GLI3c.2039G>C (p.Ser680Thr)
c.1865G>C (p.Ser622Thr)
n.2016G>C
c.1862G>C (p.Ser621Thr)
c.2036G>C (p.Ser679Thr)
7g.41972401C>TCA367321949GLI3c.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
7g.41972402T>ACA367321950GLI3c.2038A>T (p.Ser680Cys)
c.1864A>T (p.Ser622Cys)
n.2015A>T
c.1861A>T (p.Ser621Cys)
c.2035A>T (p.Ser679Cys)
7g.41972402T>CCA367321951GLI3c.2038A>G (p.Ser680Gly)
c.1864A>G (p.Ser622Gly)
n.2015A>G
c.1861A>G (p.Ser621Gly)
c.2035A>G (p.Ser679Gly)
7g.41972402T>GCA367321952GLI3c.2038A>C (p.Ser680Arg)
c.1864A>C (p.Ser622Arg)
n.2015A>C
c.1861A>C (p.Ser621Arg)
c.2035A>C (p.Ser679Arg)
7g.41972403G>ACA4230706GLI3c.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
7g.41972403G>CCA454525539GLI3c.2037C>G (p.Leu679=)
c.1863C>G (p.Leu621=)
n.2014C>G
c.1860C>G (p.Leu620=)
c.2034C>G (p.Leu678=)
7g.41972403G=CA1702647743GLI3c.2037C= (p.Leu679=)
c.1863C= (p.Leu621=)
n.2014C=
c.1860C= (p.Leu620=)
c.2034C= (p.Leu678=)
7g.41972403G>TCA454525540GLI3c.2037C>A (p.Leu679=)
c.1863C>A (p.Leu621=)
n.2014C>A
c.1860C>A (p.Leu620=)
c.2034C>A (p.Leu678=)
7g.41972404A>CCA367321953GLI3c.2036T>G (p.Leu679Arg)
c.1862T>G (p.Leu621Arg)
n.2013T>G
c.1859T>G (p.Leu620Arg)
c.2033T>G (p.Leu678Arg)
7g.41972404A>GCA367321954GLI3c.2036T>C (p.Leu679Pro)
c.1862T>C (p.Leu621Pro)
n.2013T>C
c.1859T>C (p.Leu620Pro)
c.2033T>C (p.Leu678Pro)
7g.41972404A>TCA367321955GLI3c.2036T>A (p.Leu679His)
c.1862T>A (p.Leu621His)
n.2013T>A
c.1859T>A (p.Leu620His)
c.2033T>A (p.Leu678His)
7g.41972405G>ACA367321956GLI3c.2035C>T (p.Leu679Phe)
c.1861C>T (p.Leu621Phe)
n.2012C>T
c.1858C>T (p.Leu620Phe)
c.2032C>T (p.Leu678Phe)
7g.41972405G>CCA367321957GLI3c.2035C>G (p.Leu679Val)
c.1861C>G (p.Leu621Val)
n.2012C>G
c.1858C>G (p.Leu620Val)
c.2032C>G (p.Leu678Val)
7g.41972405G>TCA367321958GLI3c.2035C>A (p.Leu679Ile)
c.1861C>A (p.Leu621Ile)
n.2012C>A
c.1858C>A (p.Leu620Ile)
c.2032C>A (p.Leu678Ile)
7g.41972406G>ACA454525549GLI3c.2034C>T (p.Asp678=)
c.1860C>T (p.Asp620=)
n.2011C>T
c.1857C>T (p.Asp619=)
c.2031C>T (p.Asp677=)
7g.41972406G>CCA367321959GLI3c.2034C>G (p.Asp678Glu)
c.1860C>G (p.Asp620Glu)
n.2011C>G
c.1857C>G (p.Asp619Glu)
c.2031C>G (p.Asp677Glu)
 dbSNP
7g.41972406G=CA1702647745GLI3c.2034C= (p.Asp678=)
c.1860C= (p.Asp620=)
n.2011C=
c.1857C= (p.Asp619=)
c.2031C= (p.Asp677=)
7g.41972406G>TCA367321960GLI3c.2034C>A (p.Asp678Glu)
c.1860C>A (p.Asp620Glu)
n.2011C>A
c.1857C>A (p.Asp619Glu)
c.2031C>A (p.Asp677Glu)
7g.41972407T>ACA367321961GLI3c.2033A>T (p.Asp678Val)
c.1859A>T (p.Asp620Val)
n.2010A>T
c.1856A>T (p.Asp619Val)
c.2030A>T (p.Asp677Val)
7g.41972407T>CCA367321963GLI3c.2033A>G (p.Asp678Gly)
c.1859A>G (p.Asp620Gly)
n.2010A>G
c.1856A>G (p.Asp619Gly)
c.2030A>G (p.Asp677Gly)
 gnomAD v4
7g.41972407T>GCA367321965GLI3c.2033A>C (p.Asp678Ala)
c.1859A>C (p.Asp620Ala)
n.2010A>C
c.1856A>C (p.Asp619Ala)
c.2030A>C (p.Asp677Ala)
7g.41972407_41972408delinsTCCA1702647747GLI3c.2032_2033delinsGA (p.Asp678=)
c.1858_1859delinsGA (p.Asp620=)
n.2009_2010delinsGA
c.1855_1856delinsGA (p.Asp619=)
c.2029_2030delinsGA (p.Asp677=)
7g.41972408C>ACA367321966GLI3c.2032G>T (p.Asp678Tyr)
c.1858G>T (p.Asp620Tyr)
n.2009G>T
c.1855G>T (p.Asp619Tyr)
c.2029G>T (p.Asp677Tyr)
 ClinVar dbSNP
7g.41972408C=CA1702647758GLI3c.2032G= (p.Asp678=)
c.1858G= (p.Asp620=)
n.2009G=
c.1855G= (p.Asp619=)
c.2029G= (p.Asp677=)
7g.41972408C>GCA367321967GLI3c.2032G>C (p.Asp678His)
c.1858G>C (p.Asp620His)
n.2009G>C
c.1855G>C (p.Asp619His)
c.2029G>C (p.Asp677His)
7g.41972408C>TCA367321968GLI3c.2032G>A (p.Asp678Asn)
c.1858G>A (p.Asp620Asn)
n.2009G>A
c.1855G>A (p.Asp619Asn)
c.2029G>A (p.Asp677Asn)
7g.41972409delCA342913GLI3c.2032del (p.Asp678ThrfsTer15)
c.1858del (p.Asp620ThrfsTer15)
n.2009del
c.1855del (p.Asp619ThrfsTer15)
c.2029del (p.Asp677ThrfsTer15)
 dbSNP
7g.41972409C>ACA367321969GLI3c.2031G>T (p.Gln677His)
c.1857G>T (p.Gln619His)
n.2008G>T
c.1854G>T (p.Gln618His)
c.2028G>T (p.Gln676His)
 COSMIC
7g.41972409C>GCA367321970GLI3c.2031G>C (p.Gln677His)
c.1857G>C (p.Gln619His)
n.2008G>C
c.1854G>C (p.Gln618His)
c.2028G>C (p.Gln676His)
7g.41972409C>TCA454525555GLI3c.2031G>A (p.Gln677=)
c.1857G>A (p.Gln619=)
n.2008G>A
c.1854G>A (p.Gln618=)
c.2028G>A (p.Gln676=)
 COSMIC
7g.41972410T>ACA367321971GLI3c.2030A>T (p.Gln677Leu)
c.1856A>T (p.Gln619Leu)
n.2007A>T
c.1853A>T (p.Gln618Leu)
c.2027A>T (p.Gln676Leu)
7g.41972410T>CCA367321972GLI3c.2030A>G (p.Gln677Arg)
c.1856A>G (p.Gln619Arg)
n.2007A>G
c.1853A>G (p.Gln618Arg)
c.2027A>G (p.Gln676Arg)
7g.41972410T>GCA367321973GLI3c.2030A>C (p.Gln677Pro)
c.1856A>C (p.Gln619Pro)
n.2007A>C
c.1853A>C (p.Gln618Pro)
c.2027A>C (p.Gln676Pro)
7g.41972411G>ACA367321976GLI3c.2029C>T (p.Gln677Ter)
c.1855C>T (p.Gln619Ter)
n.2006C>T
c.1852C>T (p.Gln618Ter)
c.2026C>T (p.Gln676Ter)
7g.41972411G>CCA367321978GLI3c.2029C>G (p.Gln677Glu)
c.1855C>G (p.Gln619Glu)
n.2006C>G
c.1852C>G (p.Gln618Glu)
c.2026C>G (p.Gln676Glu)
 gnomAD v4
7g.41972411G>TCA367321975GLI3c.2029C>A (p.Gln677Lys)
c.1855C>A (p.Gln619Lys)
n.2006C>A
c.1852C>A (p.Gln618Lys)
c.2026C>A (p.Gln676Lys)
7g.41972412C>ACA367321980GLI3c.2028G>T (p.Gln676His)
c.1854G>T (p.Gln618His)
n.2005G>T
c.1851G>T (p.Gln617His)
c.2025G>T (p.Gln675His)
7g.41972412C>GCA367321982GLI3c.2028G>C (p.Gln676His)
c.1854G>C (p.Gln618His)
n.2005G>C
c.1851G>C (p.Gln617His)
c.2025G>C (p.Gln675His)
7g.41972412C>TCA454525559GLI3c.2028G>A (p.Gln676=)
c.1854G>A (p.Gln618=)
n.2005G>A
c.1851G>A (p.Gln617=)
c.2025G>A (p.Gln675=)
 gnomAD v4
7g.41972413T>ACA367321984GLI3c.2027A>T (p.Gln676Leu)
c.1853A>T (p.Gln618Leu)
n.2004A>T
c.1850A>T (p.Gln617Leu)
c.2024A>T (p.Gln675Leu)
7g.41972413T>CCA367321987GLI3c.2027A>G (p.Gln676Arg)
c.1853A>G (p.Gln618Arg)
n.2004A>G
c.1850A>G (p.Gln617Arg)
c.2024A>G (p.Gln675Arg)
7g.41972413T>GCA367321989GLI3c.2027A>C (p.Gln676Pro)
c.1853A>C (p.Gln618Pro)
n.2004A>C
c.1850A>C (p.Gln617Pro)
c.2024A>C (p.Gln675Pro)
7g.41972414G>ACA367321996GLI3c.2026C>T (p.Gln676Ter)
c.1852C>T (p.Gln618Ter)
n.2003C>T
c.1849C>T (p.Gln617Ter)
c.2023C>T (p.Gln675Ter)
7g.41972414G>CCA367321990GLI3c.2026C>G (p.Gln676Glu)
c.1852C>G (p.Gln618Glu)
n.2003C>G
c.1849C>G (p.Gln617Glu)
c.2023C>G (p.Gln675Glu)
7g.41972414G>TCA367321994GLI3c.2026C>A (p.Gln676Lys)
c.1852C>A (p.Gln618Lys)
n.2003C>A
c.1849C>A (p.Gln617Lys)
c.2023C>A (p.Gln675Lys)
 COSMIC
7g.41972415C>ACA367321999GLI3c.2025G>T (p.Glu675Asp)
c.1851G>T (p.Glu617Asp)
n.2002G>T
c.1848G>T (p.Glu616Asp)
c.2022G>T (p.Glu674Asp)
7g.41972415C>GCA367322001GLI3c.2025G>C (p.Glu675Asp)
c.1851G>C (p.Glu617Asp)
n.2002G>C
c.1848G>C (p.Glu616Asp)
c.2022G>C (p.Glu674Asp)
7g.41972415C>TCA454525565GLI3c.2025G>A (p.Glu675=)
c.1851G>A (p.Glu617=)
n.2002G>A
c.1848G>A (p.Glu616=)
c.2022G>A (p.Glu674=)
7g.41972416T>ACA367322003GLI3c.2024A>T (p.Glu675Val)
c.1850A>T (p.Glu617Val)
n.2001A>T
c.1847A>T (p.Glu616Val)
c.2021A>T (p.Glu674Val)
7g.41972416T>CCA367322006GLI3c.2024A>G (p.Glu675Gly)
c.1850A>G (p.Glu617Gly)
n.2001A>G
c.1847A>G (p.Glu616Gly)
c.2021A>G (p.Glu674Gly)
7g.41972416T>GCA367322008GLI3c.2024A>C (p.Glu675Ala)
c.1850A>C (p.Glu617Ala)
n.2001A>C
c.1847A>C (p.Glu616Ala)
c.2021A>C (p.Glu674Ala)
7g.41972416_41972417delinsTCCA1702647764GLI3c.2023_2024delinsGA (p.Glu675=)
c.1849_1850delinsGA (p.Glu617=)
n.2000_2001delinsGA
c.1846_1847delinsGA (p.Glu616=)
c.2020_2021delinsGA (p.Glu674=)
7g.41972417delCA341301GLI3c.2023del (p.Glu675SerfsTer18)
c.1849del (p.Glu617SerfsTer18)
n.2000del
c.1846del (p.Glu616SerfsTer18)
c.2020del (p.Glu674SerfsTer18)
 ClinVar dbSNP
7g.41972417C>ACA367322012GLI3c.2023G>T (p.Glu675Ter)
c.1849G>T (p.Glu617Ter)
n.2000G>T
c.1846G>T (p.Glu616Ter)
c.2020G>T (p.Glu674Ter)
7g.41972417C=CA1702647773GLI3c.2023G= (p.Glu675=)
c.1849G= (p.Glu617=)
n.2000G=
c.1846G= (p.Glu616=)
c.2020G= (p.Glu674=)
7g.41972417C>GCA367322015GLI3c.2023G>C (p.Glu675Gln)
c.1849G>C (p.Glu617Gln)
n.2000G>C
c.1846G>C (p.Glu616Gln)
c.2020G>C (p.Glu674Gln)
7g.41972417C>TCA367322011GLI3c.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
7g.41972418A>CCA454525567GLI3c.2022T>G (p.Gly674=)
c.1848T>G (p.Gly616=)
n.1999T>G
c.1845T>G (p.Gly615=)
c.2019T>G (p.Gly673=)
7g.41972418A>GCA454525568GLI3c.2022T>C (p.Gly674=)
c.1848T>C (p.Gly616=)
n.1999T>C
c.1845T>C (p.Gly615=)
c.2019T>C (p.Gly673=)
7g.41972418A>TCA454525569GLI3c.2022T>A (p.Gly674=)
c.1848T>A (p.Gly616=)
n.1999T>A
c.1845T>A (p.Gly615=)
c.2019T>A (p.Gly673=)
7g.41972419C>ACA367322018GLI3c.2021G>T (p.Gly674Val)
c.1847G>T (p.Gly616Val)
n.1998G>T
c.1844G>T (p.Gly615Val)
c.2018G>T (p.Gly673Val)
7g.41972419C=CA1702647775GLI3c.2021G= (p.Gly674=)
c.1847G= (p.Gly616=)
n.1998G=
c.1844G= (p.Gly615=)
c.2018G= (p.Gly673=)
7g.41972419C>GCA367322017GLI3c.2021G>C (p.Gly674Ala)
c.1847G>C (p.Gly616Ala)
n.1998G>C
c.1844G>C (p.Gly615Ala)
c.2018G>C (p.Gly673Ala)
7g.41972419C>TCA367322020GLI3c.2021G>A (p.Gly674Asp)
c.1847G>A (p.Gly616Asp)
n.1998G>A
c.1844G>A (p.Gly615Asp)
c.2018G>A (p.Gly673Asp)
 dbSNP
7g.41972420C>ACA367322023GLI3c.2020G>T (p.Gly674Cys)
c.1846G>T (p.Gly616Cys)
n.1997G>T
c.1843G>T (p.Gly615Cys)
c.2017G>T (p.Gly673Cys)
7g.41972420C>GCA367322024GLI3c.2020G>C (p.Gly674Arg)
c.1846G>C (p.Gly616Arg)
n.1997G>C
c.1843G>C (p.Gly615Arg)
c.2017G>C (p.Gly673Arg)
7g.41972420C>TCA367322026GLI3c.2020G>A (p.Gly674Ser)
c.1846G>A (p.Gly616Ser)
n.1997G>A
c.1843G>A (p.Gly615Ser)
c.2017G>A (p.Gly673Ser)
7g.41972421A>CCA454525577GLI3c.2019T>G (p.Leu673=)
c.1845T>G (p.Leu615=)
n.1996T>G
c.1842T>G (p.Leu614=)
c.2016T>G (p.Leu672=)
7g.41972421A>GCA454525578GLI3c.2019T>C (p.Leu673=)
c.1845T>C (p.Leu615=)
n.1996T>C
c.1842T>C (p.Leu614=)
c.2016T>C (p.Leu672=)
 COSMIC
7g.41972421A>TCA454525579GLI3c.2019T>A (p.Leu673=)
c.1845T>A (p.Leu615=)
n.1996T>A
c.1842T>A (p.Leu614=)
c.2016T>A (p.Leu672=)
7g.41972422A>CCA367322028GLI3c.2018T>G (p.Leu673Arg)
c.1844T>G (p.Leu615Arg)
n.1995T>G
c.1841T>G (p.Leu614Arg)
c.2015T>G (p.Leu672Arg)
7g.41972422A>GCA367322030GLI3c.2018T>C (p.Leu673Pro)
c.1844T>C (p.Leu615Pro)
n.1995T>C
c.1841T>C (p.Leu614Pro)
c.2015T>C (p.Leu672Pro)
7g.41972422A>TCA367322032GLI3c.2018T>A (p.Leu673His)
c.1844T>A (p.Leu615His)
n.1995T>A
c.1841T>A (p.Leu614His)
c.2015T>A (p.Leu672His)
7g.41972423G>ACA367322034GLI3c.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
7g.41972423G>CCA367322036GLI3c.2017C>G (p.Leu673Val)
c.1843C>G (p.Leu615Val)
n.1994C>G
c.1840C>G (p.Leu614Val)
c.2014C>G (p.Leu672Val)
7g.41972423G=CA1702647777GLI3c.2017C= (p.Leu673=)
c.1843C= (p.Leu615=)
n.1994C=
c.1840C= (p.Leu614=)
c.2014C= (p.Leu672=)
7g.41972423G>TCA367322038GLI3c.2017C>A (p.Leu673Ile)
c.1843C>A (p.Leu615Ile)
n.1994C>A
c.1840C>A (p.Leu614Ile)
c.2014C>A (p.Leu672Ile)
7g.41972424G>ACA454525585GLI3c.2016C>T (p.Ala672=)
c.1842C>T (p.Ala614=)
n.1993C>T
c.1839C>T (p.Ala613=)
c.2013C>T (p.Ala671=)
7g.41972424G>CCA454525586GLI3c.2016C>G (p.Ala672=)
c.1842C>G (p.Ala614=)
n.1993C>G
c.1839C>G (p.Ala613=)
c.2013C>G (p.Ala671=)
7g.41972424G>TCA454525588GLI3c.2016C>A (p.Ala672=)
c.1842C>A (p.Ala614=)
n.1993C>A
c.1839C>A (p.Ala613=)
c.2013C>A (p.Ala671=)
 gnomAD v4
7g.41972425G>ACA367322039GLI3c.2015C>T (p.Ala672Val)
c.1841C>T (p.Ala614Val)
n.1992C>T
c.1838C>T (p.Ala613Val)
c.2012C>T (p.Ala671Val)
 gnomAD v4
7g.41972425G>CCA367322043GLI3c.2015C>G (p.Ala672Gly)
c.1841C>G (p.Ala614Gly)
n.1992C>G
c.1838C>G (p.Ala613Gly)
c.2012C>G (p.Ala671Gly)
7g.41972425G>TCA367322045GLI3c.2015C>A (p.Ala672Asp)
c.1841C>A (p.Ala614Asp)
n.1992C>A
c.1838C>A (p.Ala613Asp)
c.2012C>A (p.Ala671Asp)
7g.41972426C>ACA367322051GLI3c.2014G>T (p.Ala672Ser)
c.1840G>T (p.Ala614Ser)
n.1991G>T
c.1837G>T (p.Ala613Ser)
c.2011G>T (p.Ala671Ser)
7g.41972426C>GCA367322049GLI3c.2014G>C (p.Ala672Pro)
c.1840G>C (p.Ala614Pro)
n.1991G>C
c.1837G>C (p.Ala613Pro)
c.2011G>C (p.Ala671Pro)
7g.41972426C>TCA367322047GLI3c.2014G>A (p.Ala672Thr)
c.1840G>A (p.Ala614Thr)
n.1991G>A
c.1837G>A (p.Ala613Thr)
c.2011G>A (p.Ala671Thr)
7g.41972427T>ACA454525597GLI3c.2013A>T (p.Gly671=)
c.1839A>T (p.Gly613=)
n.1990A>T
c.1836A>T (p.Gly612=)
c.2010A>T (p.Gly670=)
7g.41972427T>CCA454525593GLI3c.2013A>G (p.Gly671=)
c.1839A>G (p.Gly613=)
n.1990A>G
c.1836A>G (p.Gly612=)
c.2010A>G (p.Gly670=)
7g.41972427T>GCA454525595GLI3c.2013A>C (p.Gly671=)
c.1839A>C (p.Gly613=)
n.1990A>C
c.1836A>C (p.Gly612=)
c.2010A>C (p.Gly670=)
7g.41972427_41972428delinsTCCA1702647778GLI3c.2012_2013delinsGA (p.Gly671=)
c.1838_1839delinsGA (p.Gly613=)
n.1989_1990delinsGA
c.1835_1836delinsGA (p.Gly612=)
c.2009_2010delinsGA (p.Gly670=)
7g.41972428C>ACA367322053GLI3c.2012G>T (p.Gly671Val)
c.1838G>T (p.Gly613Val)
n.1989G>T
c.1835G>T (p.Gly612Val)
c.2009G>T (p.Gly670Val)
7g.41972428C>GCA367322054GLI3c.2012G>C (p.Gly671Ala)
c.1838G>C (p.Gly613Ala)
n.1989G>C
c.1835G>C (p.Gly612Ala)
c.2009G>C (p.Gly670Ala)
7g.41972428C>TCA367322057GLI3c.2012G>A (p.Gly671Glu)
c.1838G>A (p.Gly613Glu)
n.1989G>A
c.1835G>A (p.Gly612Glu)
c.2009G>A (p.Gly670Glu)
 gnomAD v4
7g.41972430delCA341302GLI3c.2012del (p.Gly671GlufsTer22)
c.1838del (p.Gly613GlufsTer22)
n.1989del
c.1835del (p.Gly612GlufsTer22)
c.2009del (p.Gly670GlufsTer22)
 ClinVar dbSNP
7g.41972429C>ACA367322059GLI3c.2011G>T (p.Gly671Ter)
c.1837G>T (p.Gly613Ter)
n.1988G>T
c.1834G>T (p.Gly612Ter)
c.2008G>T (p.Gly670Ter)
7g.41972429C>GCA367322061GLI3c.2011G>C (p.Gly671Arg)
c.1837G>C (p.Gly613Arg)
n.1988G>C
c.1834G>C (p.Gly612Arg)
c.2008G>C (p.Gly670Arg)
7g.41972429C>TCA367322063GLI3c.2011G>A (p.Gly671Arg)
c.1837G>A (p.Gly613Arg)
n.1988G>A
c.1834G>A (p.Gly612Arg)
c.2008G>A (p.Gly670Arg)
7g.41972430C>ACA367322064GLI3c.2010G>T (p.Gln670His)
c.1836G>T (p.Gln612His)
n.1987G>T
c.1833G>T (p.Gln611His)
c.2007G>T (p.Gln669His)
 COSMIC
7g.41972430C>GCA367322066GLI3c.2010G>C (p.Gln670His)
c.1836G>C (p.Gln612His)
n.1987G>C
c.1833G>C (p.Gln611His)
c.2007G>C (p.Gln669His)
7g.41972430C>TCA454525600GLI3c.2010G>A (p.Gln670=)
c.1836G>A (p.Gln612=)
n.1987G>A
c.1833G>A (p.Gln611=)
c.2007G>A (p.Gln669=)
 gnomAD v4
7g.41972431T>ACA367322068GLI3c.2009A>T (p.Gln670Leu)
c.1835A>T (p.Gln612Leu)
n.1986A>T
c.1832A>T (p.Gln611Leu)
c.2006A>T (p.Gln669Leu)
7g.41972431T>CCA367322069GLI3c.2009A>G (p.Gln670Arg)
c.1835A>G (p.Gln612Arg)
n.1986A>G
c.1832A>G (p.Gln611Arg)
c.2006A>G (p.Gln669Arg)
7g.41972431T>GCA367322072GLI3c.2009A>C (p.Gln670Pro)
c.1835A>C (p.Gln612Pro)
n.1986A>C
c.1832A>C (p.Gln611Pro)
c.2006A>C (p.Gln669Pro)
 COSMIC
7g.41972432G>ACA367322077GLI3c.2008C>T (p.Gln670Ter)
c.1834C>T (p.Gln612Ter)
n.1985C>T
c.1831C>T (p.Gln611Ter)
c.2005C>T (p.Gln669Ter)
7g.41972432G>CCA367322075GLI3c.2008C>G (p.Gln670Glu)
c.1834C>G (p.Gln612Glu)
n.1985C>G
c.1831C>G (p.Gln611Glu)
c.2005C>G (p.Gln669Glu)
 dbSNP COSMIC
7g.41972432G>TCA367322074GLI3c.2008C>A (p.Gln670Lys)
c.1834C>A (p.Gln612Lys)
n.1985C>A
c.1831C>A (p.Gln611Lys)
c.2005C>A (p.Gln669Lys)
7g.41972433A=CA1702647787GLI3c.2007T= (p.Thr669=)
c.1833T= (p.Thr611=)
n.1984T=
c.1830T= (p.Thr610=)
c.2004T= (p.Thr668=)
7g.41972433A>CCA454525606GLI3c.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
7g.41972433A>GCA454525611GLI3c.2007T>C (p.Thr669=)
c.1833T>C (p.Thr611=)
n.1984T>C
c.1830T>C (p.Thr610=)
c.2004T>C (p.Thr668=)
7g.41972433A>TCA454525614GLI3c.2007T>A (p.Thr669=)
c.1833T>A (p.Thr611=)
n.1984T>A
c.1830T>A (p.Thr610=)
c.2004T>A (p.Thr668=)
7g.41972433_41972437delinsAGTCGCA1702647785GLI3c.2003_2007delinsCGACT (p.Pro668=)
c.1829_1833delinsCGACT (p.Pro610=)
n.1980_1984delinsCGACT
c.1826_1830delinsCGACT (p.Pro609=)
c.2000_2004delinsCGACT (p.Pro667=)
7g.41972434G>ACA4230707GLI3c.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
7g.41972434G>CCA367322079GLI3c.2006C>G (p.Thr669Ser)
c.1832C>G (p.Thr611Ser)
n.1983C>G
c.1829C>G (p.Thr610Ser)
c.2003C>G (p.Thr668Ser)
 COSMIC
7g.41972434G=CA1702647799GLI3c.2006C= (p.Thr669=)
c.1832C= (p.Thr611=)
n.1983C=
c.1829C= (p.Thr610=)
c.2003C= (p.Thr668=)
7g.41972434G>TCA367322081GLI3c.2006C>A (p.Thr669Asn)
c.1832C>A (p.Thr611Asn)
n.1983C>A
c.1829C>A (p.Thr610Asn)
c.2003C>A (p.Thr668Asn)
7g.41972439_41972442delCA342912GLI3c.2003_2006del (p.Pro668LeufsTer24)
c.1829_1832del (p.Pro610LeufsTer24)
n.1980_1983del
c.1826_1829del (p.Pro609LeufsTer24)
c.2000_2003del (p.Pro667LeufsTer24)
 dbSNP

Number of alleles fetched