| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.41967881G>A | CA342921 | GLI3 | c.2146C>T (p.Gln716Ter) c.1972C>T (p.Gln658Ter) n.2123C>T c.1969C>T (p.Gln657Ter) c.2143C>T (p.Gln715Ter) | dbSNP |
| 7 | g.41967881G>C | CA367321704 | GLI3 | c.2146C>G (p.Gln716Glu) c.1972C>G (p.Gln658Glu) n.2123C>G c.1969C>G (p.Gln657Glu) c.2143C>G (p.Gln715Glu) | |
| 7 | g.41967881G= | CA1702661960 | GLI3 | c.2146C= (p.Gln716=) c.1972C= (p.Gln658=) n.2123C= c.1969C= (p.Gln657=) c.2143C= (p.Gln715=) | |
| 7 | g.41967881G>T | CA367321705 | GLI3 | c.2146C>A (p.Gln716Lys) c.1972C>A (p.Gln658Lys) n.2123C>A c.1969C>A (p.Gln657Lys) c.2143C>A (p.Gln715Lys) | |
| 7 | g.41967882del | CA2580077129 | GLI3 | c.2146del (p.Gln716AsnfsTer17) c.1972del (p.Gln658AsnfsTer17) n.2123del c.1969del (p.Gln657AsnfsTer17) c.2143del (p.Gln715AsnfsTer17) | ClinVar |
| 7 | g.41967882G>A | CA454525155 | GLI3 | c.2145C>T (p.Ser715=) c.1971C>T (p.Ser657=) n.2122C>T c.1968C>T (p.Ser656=) c.2142C>T (p.Ser714=) | |
| 7 | g.41967882G>C | CA367321706 | GLI3 | c.2145C>G (p.Ser715Arg) c.1971C>G (p.Ser657Arg) n.2122C>G c.1968C>G (p.Ser656Arg) c.2142C>G (p.Ser714Arg) | |
| 7 | g.41967882G>T | CA367321707 | GLI3 | c.2145C>A (p.Ser715Arg) c.1971C>A (p.Ser657Arg) n.2122C>A c.1968C>A (p.Ser656Arg) c.2142C>A (p.Ser714Arg) | |
| 7 | g.41967883C>A | CA367321708 | GLI3 | c.2144G>T (p.Ser715Ile) c.1970G>T (p.Ser657Ile) n.2121G>T c.1967G>T (p.Ser656Ile) c.2141G>T (p.Ser714Ile) | gnomAD v4 COSMIC |
| 7 | g.41967883C= | CA1702661961 | GLI3 | c.2144G= (p.Ser715=) c.1970G= (p.Ser657=) n.2121G= c.1967G= (p.Ser656=) c.2141G= (p.Ser714=) | |
| 7 | g.41967883C>G | CA367321709 | GLI3 | c.2144G>C (p.Ser715Thr) c.1970G>C (p.Ser657Thr) n.2121G>C c.1967G>C (p.Ser656Thr) c.2141G>C (p.Ser714Thr) | |
| 7 | g.41967883C>T | CA4230673 | GLI3 | c.2144G>A (p.Ser715Asn) c.1970G>A (p.Ser657Asn) n.2121G>A c.1967G>A (p.Ser656Asn) c.2141G>A (p.Ser714Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41967884T>A | CA367321710 | GLI3 | c.2143A>T (p.Ser715Cys) c.1969A>T (p.Ser657Cys) n.2120A>T c.1966A>T (p.Ser656Cys) c.2140A>T (p.Ser714Cys) | |
| 7 | g.41967884T>C | CA367321711 | GLI3 | c.2143A>G (p.Ser715Gly) c.1969A>G (p.Ser657Gly) n.2120A>G c.1966A>G (p.Ser656Gly) c.2140A>G (p.Ser714Gly) | |
| 7 | g.41967884T>G | CA367321712 | GLI3 | c.2143A>C (p.Ser715Arg) c.1969A>C (p.Ser657Arg) n.2120A>C c.1966A>C (p.Ser656Arg) c.2140A>C (p.Ser714Arg) | |
| 7 | g.41967885G>A | CA454525160 | GLI3 | c.2142C>T (p.Ser714=) c.1968C>T (p.Ser656=) n.2119C>T c.1965C>T (p.Ser655=) c.2139C>T (p.Ser713=) | dbSNP gnomAD v4 |
| 7 | g.41967885G>C | CA367321713 | GLI3 | c.2142C>G (p.Ser714Arg) c.1968C>G (p.Ser656Arg) n.2119C>G c.1965C>G (p.Ser655Arg) c.2139C>G (p.Ser713Arg) | |
| 7 | g.41967885G= | CA1702661962 | GLI3 | c.2142C= (p.Ser714=) c.1968C= (p.Ser656=) n.2119C= c.1965C= (p.Ser655=) c.2139C= (p.Ser713=) | |
| 7 | g.41967885G>T | CA367321714 | GLI3 | c.2142C>A (p.Ser714Arg) c.1968C>A (p.Ser656Arg) n.2119C>A c.1965C>A (p.Ser655Arg) c.2139C>A (p.Ser713Arg) | |
| 7 | g.41967886C>A | CA367321715 | GLI3 | c.2141G>T (p.Ser714Ile) c.1967G>T (p.Ser656Ile) n.2118G>T c.1964G>T (p.Ser655Ile) c.2138G>T (p.Ser713Ile) | COSMIC |
| 7 | g.41967886C>G | CA367321716 | GLI3 | c.2141G>C (p.Ser714Thr) c.1967G>C (p.Ser656Thr) n.2118G>C c.1964G>C (p.Ser655Thr) c.2138G>C (p.Ser713Thr) | |
| 7 | g.41967886C>T | CA367321717 | GLI3 | c.2141G>A (p.Ser714Asn) c.1967G>A (p.Ser656Asn) n.2118G>A c.1964G>A (p.Ser655Asn) c.2138G>A (p.Ser713Asn) | |
| 7 | g.41967887T>A | CA367321718 | GLI3 | c.2140A>T (p.Ser714Cys) c.1966A>T (p.Ser656Cys) n.2117A>T c.1963A>T (p.Ser655Cys) c.2137A>T (p.Ser713Cys) | |
| 7 | g.41967887T>C | CA367321719 | GLI3 | c.2140A>G (p.Ser714Gly) c.1966A>G (p.Ser656Gly) n.2117A>G c.1963A>G (p.Ser655Gly) c.2137A>G (p.Ser713Gly) | |
| 7 | g.41967887T>G | CA367321720 | GLI3 | c.2140A>C (p.Ser714Arg) c.1966A>C (p.Ser656Arg) n.2117A>C c.1963A>C (p.Ser655Arg) c.2137A>C (p.Ser713Arg) | |
| 7 | g.41967887_41967888delinsTG | CA1702661963 | GLI3 | c.2139_2140delinsCA (p.Cys713=) c.1965_1966delinsCA (p.Cys655=) n.2116_2117delinsCA c.1962_1963delinsCA (p.Cys654=) c.2136_2137delinsCA (p.Cys712=) | |
| 7 | g.41967888del | CA342920 | GLI3 | c.2139del (p.Cys713Ter) c.1965del (p.Cys655Ter) n.2116del c.1962del (p.Cys654Ter) c.2136del (p.Cys712Ter) | dbSNP |
| 7 | g.41967888G>A | CA454525164 | GLI3 | c.2139C>T (p.Cys713=) c.1965C>T (p.Cys655=) n.2116C>T c.1962C>T (p.Cys654=) c.2136C>T (p.Cys712=) | |
| 7 | g.41967888G>C | CA367321721 | GLI3 | c.2139C>G (p.Cys713Trp) c.1965C>G (p.Cys655Trp) n.2116C>G c.1962C>G (p.Cys654Trp) c.2136C>G (p.Cys712Trp) | gnomAD v4 |
| 7 | g.41967888G>T | CA367321722 | GLI3 | c.2139C>A (p.Cys713Ter) c.1965C>A (p.Cys655Ter) n.2116C>A c.1962C>A (p.Cys654Ter) c.2136C>A (p.Cys712Ter) | |
| 7 | g.41967889C>A | CA367321723 | GLI3 | c.2138G>T (p.Cys713Phe) c.1964G>T (p.Cys655Phe) n.2115G>T c.1961G>T (p.Cys654Phe) c.2135G>T (p.Cys712Phe) | |
| 7 | g.41967889C>G | CA367321724 | GLI3 | c.2138G>C (p.Cys713Ser) c.1964G>C (p.Cys655Ser) n.2115G>C c.1961G>C (p.Cys654Ser) c.2135G>C (p.Cys712Ser) | |
| 7 | g.41967889C>T | CA367321725 | GLI3 | c.2138G>A (p.Cys713Tyr) c.1964G>A (p.Cys655Tyr) n.2115G>A c.1961G>A (p.Cys654Tyr) c.2135G>A (p.Cys712Tyr) | |
| 7 | g.41967890A>C | CA367321727 | GLI3 | c.2137T>G (p.Cys713Gly) c.1963T>G (p.Cys655Gly) n.2114T>G c.1960T>G (p.Cys654Gly) c.2134T>G (p.Cys712Gly) | |
| 7 | g.41967890A>G | CA367321728 | GLI3 | c.2137T>C (p.Cys713Arg) c.1963T>C (p.Cys655Arg) n.2114T>C c.1960T>C (p.Cys654Arg) c.2134T>C (p.Cys712Arg) | ClinVar |
| 7 | g.41967890A>T | CA367321726 | GLI3 | c.2137T>A (p.Cys713Ser) c.1963T>A (p.Cys655Ser) n.2114T>A c.1960T>A (p.Cys654Ser) c.2134T>A (p.Cys712Ser) | |
| 7 | g.41967891T>A | CA454525171 | GLI3 | c.2136A>T (p.Ser712=) c.1962A>T (p.Ser654=) n.2113A>T c.1959A>T (p.Ser653=) c.2133A>T (p.Ser711=) | |
| 7 | g.41967891T>C | CA454525172 | GLI3 | c.2136A>G (p.Ser712=) c.1962A>G (p.Ser654=) n.2113A>G c.1959A>G (p.Ser653=) c.2133A>G (p.Ser711=) | |
| 7 | g.41967891T>G | CA454525173 | GLI3 | c.2136A>C (p.Ser712=) c.1962A>C (p.Ser654=) n.2113A>C c.1959A>C (p.Ser653=) c.2133A>C (p.Ser711=) | |
| 7 | g.41967892G>A | CA367321729 | GLI3 | c.2135C>T (p.Ser712Leu) c.1961C>T (p.Ser654Leu) n.2112C>T c.1958C>T (p.Ser653Leu) c.2132C>T (p.Ser711Leu) | |
| 7 | g.41967892G>C | CA367321730 | GLI3 | c.2135C>G (p.Ser712Ter) c.1961C>G (p.Ser654Ter) n.2112C>G c.1958C>G (p.Ser653Ter) c.2132C>G (p.Ser711Ter) | |
| 7 | g.41967892G>T | CA367321731 | GLI3 | c.2135C>A (p.Ser712Ter) c.1961C>A (p.Ser654Ter) n.2112C>A c.1958C>A (p.Ser653Ter) c.2132C>A (p.Ser711Ter) | |
| 7 | g.41967893A>C | CA367321732 | GLI3 | c.2134T>G (p.Ser712Ala) c.1960T>G (p.Ser654Ala) n.2111T>G c.1957T>G (p.Ser653Ala) c.2131T>G (p.Ser711Ala) | |
| 7 | g.41967893A>G | CA367321733 | GLI3 | c.2134T>C (p.Ser712Pro) c.1960T>C (p.Ser654Pro) n.2111T>C c.1957T>C (p.Ser653Pro) c.2131T>C (p.Ser711Pro) | ClinVar dbSNP |
| 7 | g.41967893A>T | CA367321734 | GLI3 | c.2134T>A (p.Ser712Thr) c.1960T>A (p.Ser654Thr) n.2111T>A c.1957T>A (p.Ser653Thr) c.2131T>A (p.Ser711Thr) | |
| 7 | g.41967894A>C | CA454525175 | GLI3 | c.2133T>G (p.Ser711=) c.1959T>G (p.Ser653=) n.2110T>G c.1956T>G (p.Ser652=) c.2130T>G (p.Ser710=) | |
| 7 | g.41967894A>G | CA454525176 | GLI3 | c.2133T>C (p.Ser711=) c.1959T>C (p.Ser653=) n.2110T>C c.1956T>C (p.Ser652=) c.2130T>C (p.Ser710=) | |
| 7 | g.41967894A>T | CA454525178 | GLI3 | c.2133T>A (p.Ser711=) c.1959T>A (p.Ser653=) n.2110T>A c.1956T>A (p.Ser652=) c.2130T>A (p.Ser710=) | |
| 7 | g.41967895G>A | CA367321735 | GLI3 | c.2132C>T (p.Ser711Phe) c.1958C>T (p.Ser653Phe) n.2109C>T c.1955C>T (p.Ser652Phe) c.2129C>T (p.Ser710Phe) | |
| 7 | g.41967895G>C | CA367321737 | GLI3 | c.2132C>G (p.Ser711Cys) c.1958C>G (p.Ser653Cys) n.2109C>G c.1955C>G (p.Ser652Cys) c.2129C>G (p.Ser710Cys) |