| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.41967670_41967681delinsACTTGTTTTAGC | CA1702661875 | GLI3 | c.2346_2357delinsGCTAAAACAAGT (p.Arg782=) c.2172_2183delinsGCTAAAACAAGT (p.Arg724=) n.2323_2334delinsGCTAAAACAAGT c.2169_2180delinsGCTAAAACAAGT (p.Arg723=) c.2343_2354delinsGCTAAAACAAGT (p.Arg781=) | |
| 7 | g.41967671_41967676delinsCTTGTT | CA1702661877 | GLI3 | c.2351_2356delinsAACAAG (p.Lys784=) c.2177_2182delinsAACAAG (p.Lys726=) n.2328_2333delinsAACAAG c.2174_2179delinsAACAAG (p.Lys725=) c.2348_2353delinsAACAAG (p.Lys783=) | |
| 7 | g.41967674_41967684del | CA342928 | GLI3 | c.2346_2356del (p.Arg782SerfsTer15) c.2172_2182del (p.Arg724SerfsTer15) n.2323_2333del c.2169_2179del (p.Arg723SerfsTer15) c.2343_2353del (p.Arg781SerfsTer15) | dbSNP |
| 7 | g.41967674_41967678del | CA342929 | GLI3 | c.2351_2355del (p.Lys784SerfsTer15) c.2177_2181del (p.Lys726SerfsTer15) n.2328_2332del c.2174_2178del (p.Lys725SerfsTer15) c.2348_2352del (p.Lys783SerfsTer15) | dbSNP |
| 7 | g.41967675T>A | CA367321263 | GLI3 | c.2352A>T (p.Lys784Asn) c.2178A>T (p.Lys726Asn) n.2329A>T c.2175A>T (p.Lys725Asn) c.2349A>T (p.Lys783Asn) | dbSNP |
| 7 | g.41967675T>C | CA454663146 | GLI3 | c.2352A>G (p.Lys784=) c.2178A>G (p.Lys726=) n.2329A>G c.2175A>G (p.Lys725=) c.2349A>G (p.Lys783=) | dbSNP |
| 7 | g.41967675T>G | CA367321264 | GLI3 | c.2352A>C (p.Lys784Asn) c.2178A>C (p.Lys726Asn) n.2329A>C c.2175A>C (p.Lys725Asn) c.2349A>C (p.Lys783Asn) | dbSNP |
| 7 | g.41967676T>A | CA367321265 | GLI3 | c.2351A>T (p.Lys784Ile) c.2177A>T (p.Lys726Ile) n.2328A>T c.2174A>T (p.Lys725Ile) c.2348A>T (p.Lys783Ile) | |
| 7 | g.41967676T>C | CA367321266 | GLI3 | c.2351A>G (p.Lys784Arg) c.2177A>G (p.Lys726Arg) n.2328A>G c.2174A>G (p.Lys725Arg) c.2348A>G (p.Lys783Arg) | |
| 7 | g.41967676T>G | CA367321267 | GLI3 | c.2351A>C (p.Lys784Thr) c.2177A>C (p.Lys726Thr) n.2328A>C c.2174A>C (p.Lys725Thr) c.2348A>C (p.Lys783Thr) | |
| 7 | g.41967677T>A | CA367321268 | GLI3 | c.2350A>T (p.Lys784Ter) c.2176A>T (p.Lys726Ter) n.2327A>T c.2173A>T (p.Lys725Ter) c.2347A>T (p.Lys783Ter) | |
| 7 | g.41967677T>C | CA367321270 | GLI3 | c.2350A>G (p.Lys784Glu) c.2176A>G (p.Lys726Glu) n.2327A>G c.2173A>G (p.Lys725Glu) c.2347A>G (p.Lys783Glu) | |
| 7 | g.41967677T>G | CA367321269 | GLI3 | c.2350A>C (p.Lys784Gln) c.2176A>C (p.Lys726Gln) n.2327A>C c.2173A>C (p.Lys725Gln) c.2347A>C (p.Lys783Gln) | |
| 7 | g.41967678T>A | CA454663153 | GLI3 | c.2349A>T (p.Leu783=) c.2175A>T (p.Leu725=) n.2326A>T c.2172A>T (p.Leu724=) c.2346A>T (p.Leu782=) | |
| 7 | g.41967678T>C | CA454663151 | GLI3 | c.2349A>G (p.Leu783=) c.2175A>G (p.Leu725=) n.2326A>G c.2172A>G (p.Leu724=) c.2346A>G (p.Leu782=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967678T>G | CA454663152 | GLI3 | c.2349A>C (p.Leu783=) c.2175A>C (p.Leu725=) n.2326A>C c.2172A>C (p.Leu724=) c.2346A>C (p.Leu782=) | |
| 7 | g.41967678T= | CA1702661879 | GLI3 | c.2349A= (p.Leu783=) c.2175A= (p.Leu725=) n.2326A= c.2172A= (p.Leu724=) c.2346A= (p.Leu782=) | |
| 7 | g.41967679A>C | CA367321271 | GLI3 | c.2348T>G (p.Leu783Arg) c.2174T>G (p.Leu725Arg) n.2325T>G c.2171T>G (p.Leu724Arg) c.2345T>G (p.Leu782Arg) | |
| 7 | g.41967679A>G | CA367321272 | GLI3 | c.2348T>C (p.Leu783Pro) c.2174T>C (p.Leu725Pro) n.2325T>C c.2171T>C (p.Leu724Pro) c.2345T>C (p.Leu782Pro) | |
| 7 | g.41967679A>T | CA367321273 | GLI3 | c.2348T>A (p.Leu783Gln) c.2174T>A (p.Leu725Gln) n.2325T>A c.2171T>A (p.Leu724Gln) c.2345T>A (p.Leu782Gln) | dbSNP |
| 7 | g.41967680G>A | CA454663154 | GLI3 | c.2347C>T (p.Leu783=) c.2173C>T (p.Leu725=) n.2324C>T c.2170C>T (p.Leu724=) c.2344C>T (p.Leu782=) | |
| 7 | g.41967680G>C | CA367321274 | GLI3 | c.2347C>G (p.Leu783Val) c.2173C>G (p.Leu725Val) n.2324C>G c.2170C>G (p.Leu724Val) c.2344C>G (p.Leu782Val) | |
| 7 | g.41967680G>T | CA367321275 | GLI3 | c.2347C>A (p.Leu783Ile) c.2173C>A (p.Leu725Ile) n.2324C>A c.2170C>A (p.Leu724Ile) c.2344C>A (p.Leu782Ile) | dbSNP |
| 7 | g.41967681C>A | CA367321276 | GLI3 | c.2346G>T (p.Arg782Ser) c.2172G>T (p.Arg724Ser) n.2323G>T c.2169G>T (p.Arg723Ser) c.2343G>T (p.Arg781Ser) | dbSNP |
| 7 | g.41967681C= | CA1702661880 | GLI3 | c.2346G= (p.Arg782=) c.2172G= (p.Arg724=) n.2323G= c.2169G= (p.Arg723=) c.2343G= (p.Arg781=) | |
| 7 | g.41967681C>G | CA367321277 | GLI3 | c.2346G>C (p.Arg782Ser) c.2172G>C (p.Arg724Ser) n.2323G>C c.2169G>C (p.Arg723Ser) c.2343G>C (p.Arg781Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41967681C>T | CA454663157 | GLI3 | c.2346G>A (p.Arg782=) c.2172G>A (p.Arg724=) n.2323G>A c.2169G>A (p.Arg723=) c.2343G>A (p.Arg781=) | dbSNP gnomAD v4 |
| 7 | g.41967682C>A | CA367321278 | GLI3 | c.2345G>T (p.Arg782Met) c.2171G>T (p.Arg724Met) n.2322G>T c.2168G>T (p.Arg723Met) c.2342G>T (p.Arg781Met) | |
| 7 | g.41967682C>G | CA367321279 | GLI3 | c.2345G>C (p.Arg782Thr) c.2171G>C (p.Arg724Thr) n.2322G>C c.2168G>C (p.Arg723Thr) c.2342G>C (p.Arg781Thr) | dbSNP |
| 7 | g.41967682C>T | CA367321280 | GLI3 | c.2345G>A (p.Arg782Lys) c.2171G>A (p.Arg724Lys) n.2322G>A c.2168G>A (p.Arg723Lys) c.2342G>A (p.Arg781Lys) | dbSNP gnomAD v4 |
| 7 | g.41967683T>A | CA367321281 | GLI3 | c.2344A>T (p.Arg782Trp) c.2170A>T (p.Arg724Trp) n.2321A>T c.2167A>T (p.Arg723Trp) c.2341A>T (p.Arg781Trp) | dbSNP |
| 7 | g.41967683T>C | CA367321282 | GLI3 | c.2344A>G (p.Arg782Gly) c.2170A>G (p.Arg724Gly) n.2321A>G c.2167A>G (p.Arg723Gly) c.2341A>G (p.Arg781Gly) | |
| 7 | g.41967683T>G | CA454663159 | GLI3 | c.2344A>C (p.Arg782=) c.2170A>C (p.Arg724=) n.2321A>C c.2167A>C (p.Arg723=) c.2341A>C (p.Arg781=) | |
| 7 | g.41967684T>A | CA367321283 | GLI3 | c.2343A>T (p.Glu781Asp) c.2169A>T (p.Glu723Asp) n.2320A>T c.2166A>T (p.Glu722Asp) c.2340A>T (p.Glu780Asp) | |
| 7 | g.41967684T>C | CA454663165 | GLI3 | c.2343A>G (p.Glu781=) c.2169A>G (p.Glu723=) n.2320A>G c.2166A>G (p.Glu722=) c.2340A>G (p.Glu780=) | |
| 7 | g.41967684T>G | CA367321284 | GLI3 | c.2343A>C (p.Glu781Asp) c.2169A>C (p.Glu723Asp) n.2320A>C c.2166A>C (p.Glu722Asp) c.2340A>C (p.Glu780Asp) | |
| 7 | g.41967685T>A | CA367321285 | GLI3 | c.2342A>T (p.Glu781Val) c.2168A>T (p.Glu723Val) n.2319A>T c.2165A>T (p.Glu722Val) c.2339A>T (p.Glu780Val) | dbSNP |
| 7 | g.41967685T>C | CA367321287 | GLI3 | c.2342A>G (p.Glu781Gly) c.2168A>G (p.Glu723Gly) n.2319A>G c.2165A>G (p.Glu722Gly) c.2339A>G (p.Glu780Gly) | dbSNP |
| 7 | g.41967685T>G | CA367321286 | GLI3 | c.2342A>C (p.Glu781Ala) c.2168A>C (p.Glu723Ala) n.2319A>C c.2165A>C (p.Glu722Ala) c.2339A>C (p.Glu780Ala) | |
| 7 | g.41967686C>A | CA367321288 | GLI3 | c.2341G>T (p.Glu781Ter) c.2167G>T (p.Glu723Ter) n.2318G>T c.2164G>T (p.Glu722Ter) c.2338G>T (p.Glu780Ter) | |
| 7 | g.41967686C>G | CA367321290 | GLI3 | c.2341G>C (p.Glu781Gln) c.2167G>C (p.Glu723Gln) n.2318G>C c.2164G>C (p.Glu722Gln) c.2338G>C (p.Glu780Gln) | dbSNP |
| 7 | g.41967686C>T | CA367321289 | GLI3 | c.2341G>A (p.Glu781Lys) c.2167G>A (p.Glu723Lys) n.2318G>A c.2164G>A (p.Glu722Lys) c.2338G>A (p.Glu780Lys) | dbSNP |
| 7 | g.41967687T>A | CA454663364 | GLI3 | c.2340A>T (p.Leu780=) c.2166A>T (p.Leu722=) n.2317A>T c.2163A>T (p.Leu721=) c.2337A>T (p.Leu779=) | |
| 7 | g.41967687T>C | CA454663365 | GLI3 | c.2340A>G (p.Leu780=) c.2166A>G (p.Leu722=) n.2317A>G c.2163A>G (p.Leu721=) c.2337A>G (p.Leu779=) | |
| 7 | g.41967687T>G | CA454663367 | GLI3 | c.2340A>C (p.Leu780=) c.2166A>C (p.Leu722=) n.2317A>C c.2163A>C (p.Leu721=) c.2337A>C (p.Leu779=) | |
| 7 | g.41967688A>C | CA367321291 | GLI3 | c.2339T>G (p.Leu780Arg) c.2165T>G (p.Leu722Arg) n.2316T>G c.2162T>G (p.Leu721Arg) c.2336T>G (p.Leu779Arg) | gnomAD v4 |
| 7 | g.41967688A>G | CA367321293 | GLI3 | c.2339T>C (p.Leu780Pro) c.2165T>C (p.Leu722Pro) n.2316T>C c.2162T>C (p.Leu721Pro) c.2336T>C (p.Leu779Pro) | gnomAD v4 |
| 7 | g.41967688A>T | CA367321292 | GLI3 | c.2339T>A (p.Leu780Gln) c.2165T>A (p.Leu722Gln) n.2316T>A c.2162T>A (p.Leu721Gln) c.2336T>A (p.Leu779Gln) | dbSNP |
| 7 | g.41967689G>A | CA454663376 | GLI3 | c.2338C>T (p.Leu780=) c.2164C>T (p.Leu722=) n.2315C>T c.2161C>T (p.Leu721=) c.2335C>T (p.Leu779=) | dbSNP gnomAD v4 |
| 7 | g.41967689G>C | CA367321294 | GLI3 | c.2338C>G (p.Leu780Val) c.2164C>G (p.Leu722Val) n.2315C>G c.2161C>G (p.Leu721Val) c.2335C>G (p.Leu779Val) | dbSNP |