| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |