UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.41967718G>A | CA4230642 | GLI3 | c.2309C>T (p.Ala770Val) c.2135C>T (p.Ala712Val) n.2286C>T c.2132C>T (p.Ala711Val) c.2306C>T (p.Ala769Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967718G>C | CA367321359 | GLI3 | c.2309C>G (p.Ala770Gly) c.2135C>G (p.Ala712Gly) n.2286C>G c.2132C>G (p.Ala711Gly) c.2306C>G (p.Ala769Gly) | |
| 7 | g.41967718G= | CA1702661895 | GLI3 | c.2309C= (p.Ala770=) c.2135C= (p.Ala712=) n.2286C= c.2132C= (p.Ala711=) c.2306C= (p.Ala769=) | |
| 7 | g.41967718G>T | CA367321360 | GLI3 | c.2309C>A (p.Ala770Glu) c.2135C>A (p.Ala712Glu) n.2286C>A c.2132C>A (p.Ala711Glu) c.2306C>A (p.Ala769Glu) | |
| 7 | g.41967719C>A | CA367321361 | GLI3 | c.2308G>T (p.Ala770Ser) c.2134G>T (p.Ala712Ser) n.2285G>T c.2131G>T (p.Ala711Ser) c.2305G>T (p.Ala769Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41967719C= | CA1702661896 | GLI3 | c.2308G= (p.Ala770=) c.2134G= (p.Ala712=) n.2285G= c.2131G= (p.Ala711=) c.2305G= (p.Ala769=) | |
| 7 | g.41967719C>G | CA367321363 | GLI3 | c.2308G>C (p.Ala770Pro) c.2134G>C (p.Ala712Pro) n.2285G>C c.2131G>C (p.Ala711Pro) c.2305G>C (p.Ala769Pro) | dbSNP COSMIC |
| 7 | g.41967719C>T | CA367321362 | GLI3 | c.2308G>A (p.Ala770Thr) c.2134G>A (p.Ala712Thr) n.2285G>A c.2131G>A (p.Ala711Thr) c.2305G>A (p.Ala769Thr) | dbSNP gnomAD v4 |
| 7 | g.41967720del | CA2695207640 | GLI3 | c.2308del (p.Ala770GlnfsTer9) c.2134del (p.Ala712GlnfsTer9) n.2285del c.2131del (p.Ala711GlnfsTer9) c.2305del (p.Ala769GlnfsTer9) | |
| 7 | g.41967720C>A | CA454663417 | GLI3 | c.2307G>T (p.Pro769=) c.2133G>T (p.Pro711=) n.2284G>T c.2130G>T (p.Pro710=) c.2304G>T (p.Pro768=) | |
| 7 | g.41967720C= | CA1702661897 | GLI3 | c.2307G= (p.Pro769=) c.2133G= (p.Pro711=) n.2284G= c.2130G= (p.Pro710=) c.2304G= (p.Pro768=) | |
| 7 | g.41967720C>G | CA454663416 | GLI3 | c.2307G>C (p.Pro769=) c.2133G>C (p.Pro711=) n.2284G>C c.2130G>C (p.Pro710=) c.2304G>C (p.Pro768=) | dbSNP |
| 7 | g.41967720C>T | CA4230643 | GLI3 | c.2307G>A (p.Pro769=) c.2133G>A (p.Pro711=) n.2284G>A c.2130G>A (p.Pro710=) c.2304G>A (p.Pro768=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41967721G>A | CA4230644 | GLI3 | c.2306C>T (p.Pro769Leu) c.2132C>T (p.Pro711Leu) n.2283C>T c.2129C>T (p.Pro710Leu) c.2303C>T (p.Pro768Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967721G>C | CA367321364 | GLI3 | c.2306C>G (p.Pro769Arg) c.2132C>G (p.Pro711Arg) n.2283C>G c.2129C>G (p.Pro710Arg) c.2303C>G (p.Pro768Arg) | dbSNP gnomAD v4 |
| 7 | g.41967721G= | CA1702661898 | GLI3 | c.2306C= (p.Pro769=) c.2132C= (p.Pro711=) n.2283C= c.2129C= (p.Pro710=) c.2303C= (p.Pro768=) | |
| 7 | g.41967721G>T | CA367321365 | GLI3 | c.2306C>A (p.Pro769Gln) c.2132C>A (p.Pro711Gln) n.2283C>A c.2129C>A (p.Pro710Gln) c.2303C>A (p.Pro768Gln) | dbSNP COSMIC |
| 7 | g.41967722G>A | CA367321366 | GLI3 | c.2305C>T (p.Pro769Ser) c.2131C>T (p.Pro711Ser) n.2282C>T c.2128C>T (p.Pro710Ser) c.2302C>T (p.Pro768Ser) | dbSNP gnomAD v4 |
| 7 | g.41967722G>C | CA367321367 | GLI3 | c.2305C>G (p.Pro769Ala) c.2131C>G (p.Pro711Ala) n.2282C>G c.2128C>G (p.Pro710Ala) c.2302C>G (p.Pro768Ala) | dbSNP |
| 7 | g.41967722G= | CA1702661899 | GLI3 | c.2305C= (p.Pro769=) c.2131C= (p.Pro711=) n.2282C= c.2128C= (p.Pro710=) c.2302C= (p.Pro768=) | |
| 7 | g.41967722G>T | CA367321368 | GLI3 | c.2305C>A (p.Pro769Thr) c.2131C>A (p.Pro711Thr) n.2282C>A c.2128C>A (p.Pro710Thr) c.2302C>A (p.Pro768Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41967723G>A | CA454663419 | GLI3 | c.2304C>T (p.Asn768=) c.2130C>T (p.Asn710=) n.2281C>T c.2127C>T (p.Asn709=) c.2301C>T (p.Asn767=) | dbSNP |
| 7 | g.41967723G>C | CA367321369 | GLI3 | c.2304C>G (p.Asn768Lys) c.2130C>G (p.Asn710Lys) n.2281C>G c.2127C>G (p.Asn709Lys) c.2301C>G (p.Asn767Lys) | dbSNP |
| 7 | g.41967723G>T | CA367321370 | GLI3 | c.2304C>A (p.Asn768Lys) c.2130C>A (p.Asn710Lys) n.2281C>A c.2127C>A (p.Asn709Lys) c.2301C>A (p.Asn767Lys) | gnomAD v4 |
| 7 | g.41967724T>A | CA367321372 | GLI3 | c.2303A>T (p.Asn768Ile) c.2129A>T (p.Asn710Ile) n.2280A>T c.2126A>T (p.Asn709Ile) c.2300A>T (p.Asn767Ile) | dbSNP |
| 7 | g.41967724T>C | CA367321373 | GLI3 | c.2303A>G (p.Asn768Ser) c.2129A>G (p.Asn710Ser) n.2280A>G c.2126A>G (p.Asn709Ser) c.2300A>G (p.Asn767Ser) | dbSNP gnomAD v4 |
| 7 | g.41967724T>G | CA367321371 | GLI3 | c.2303A>C (p.Asn768Thr) c.2129A>C (p.Asn710Thr) n.2280A>C c.2126A>C (p.Asn709Thr) c.2300A>C (p.Asn767Thr) | dbSNP |
| 7 | g.41967725T>A | CA367321374 | GLI3 | c.2302A>T (p.Asn768Tyr) c.2128A>T (p.Asn710Tyr) n.2279A>T c.2125A>T (p.Asn709Tyr) c.2299A>T (p.Asn767Tyr) | dbSNP |
| 7 | g.41967725T>C | CA367321375 | GLI3 | c.2302A>G (p.Asn768Asp) c.2128A>G (p.Asn710Asp) n.2279A>G c.2125A>G (p.Asn709Asp) c.2299A>G (p.Asn767Asp) | dbSNP |
| 7 | g.41967725T>G | CA367321376 | GLI3 | c.2302A>C (p.Asn768His) c.2128A>C (p.Asn710His) n.2279A>C c.2125A>C (p.Asn709His) c.2299A>C (p.Asn767His) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41967725T= | CA1702661900 | GLI3 | c.2302A= (p.Asn768=) c.2128A= (p.Asn710=) n.2279A= c.2125A= (p.Asn709=) c.2299A= (p.Asn767=) | |
| 7 | g.41967726T>A | CA367321377 | GLI3 | c.2301A>T (p.Arg767Ser) c.2127A>T (p.Arg709Ser) n.2278A>T c.2124A>T (p.Arg708Ser) c.2298A>T (p.Arg766Ser) | |
| 7 | g.41967726T>C | CA454663420 | GLI3 | c.2301A>G (p.Arg767=) c.2127A>G (p.Arg709=) n.2278A>G c.2124A>G (p.Arg708=) c.2298A>G (p.Arg766=) | dbSNP |
| 7 | g.41967726T>G | CA367321378 | GLI3 | c.2301A>C (p.Arg767Ser) c.2127A>C (p.Arg709Ser) n.2278A>C c.2124A>C (p.Arg708Ser) c.2298A>C (p.Arg766Ser) | |
| 7 | g.41967727C>A | CA367321379 | GLI3 | c.2300G>T (p.Arg767Ile) c.2126G>T (p.Arg709Ile) n.2277G>T c.2123G>T (p.Arg708Ile) c.2297G>T (p.Arg766Ile) | |
| 7 | g.41967727C>G | CA367321380 | GLI3 | c.2300G>C (p.Arg767Thr) c.2126G>C (p.Arg709Thr) n.2277G>C c.2123G>C (p.Arg708Thr) c.2297G>C (p.Arg766Thr) | dbSNP |
| 7 | g.41967727C>T | CA367321381 | GLI3 | c.2300G>A (p.Arg767Lys) c.2126G>A (p.Arg709Lys) n.2277G>A c.2123G>A (p.Arg708Lys) c.2297G>A (p.Arg766Lys) | ClinVar dbSNP |
| 7 | g.41967728T>A | CA367321382 | GLI3 | c.2299A>T (p.Arg767Ter) c.2125A>T (p.Arg709Ter) n.2276A>T c.2122A>T (p.Arg708Ter) c.2296A>T (p.Arg766Ter) | dbSNP |
| 7 | g.41967728T>C | CA367321383 | GLI3 | c.2299A>G (p.Arg767Gly) c.2125A>G (p.Arg709Gly) n.2276A>G c.2122A>G (p.Arg708Gly) c.2296A>G (p.Arg766Gly) | dbSNP gnomAD v4 |
| 7 | g.41967728T>G | CA454663421 | GLI3 | c.2299A>C (p.Arg767=) c.2125A>C (p.Arg709=) n.2276A>C c.2122A>C (p.Arg708=) c.2296A>C (p.Arg766=) | |
| 7 | g.41967729C>A | CA367321384 | GLI3 | c.2298G>T (p.Arg766Ser) c.2124G>T (p.Arg708Ser) n.2275G>T c.2121G>T (p.Arg707Ser) c.2295G>T (p.Arg765Ser) | dbSNP |
| 7 | g.41967729C>G | CA367321385 | GLI3 | c.2298G>C (p.Arg766Ser) c.2124G>C (p.Arg708Ser) n.2275G>C c.2121G>C (p.Arg707Ser) c.2295G>C (p.Arg765Ser) | dbSNP gnomAD v4 |
| 7 | g.41967729C>T | CA454663422 | GLI3 | c.2298G>A (p.Arg766=) c.2124G>A (p.Arg708=) n.2275G>A c.2121G>A (p.Arg707=) c.2295G>A (p.Arg765=) | dbSNP gnomAD v4 |
| 7 | g.41967730C>A | CA367321388 | GLI3 | c.2297G>T (p.Arg766Met) c.2123G>T (p.Arg708Met) n.2274G>T c.2120G>T (p.Arg707Met) c.2294G>T (p.Arg765Met) | dbSNP |
| 7 | g.41967730C>G | CA367321386 | GLI3 | c.2297G>C (p.Arg766Thr) c.2123G>C (p.Arg708Thr) n.2274G>C c.2120G>C (p.Arg707Thr) c.2294G>C (p.Arg765Thr) | dbSNP |
| 7 | g.41967730C>T | CA367321387 | GLI3 | c.2297G>A (p.Arg766Lys) c.2123G>A (p.Arg708Lys) n.2274G>A c.2120G>A (p.Arg707Lys) c.2294G>A (p.Arg765Lys) | dbSNP |
| 7 | g.41967731T>A | CA367321389 | GLI3 | c.2296A>T (p.Arg766Trp) c.2122A>T (p.Arg708Trp) n.2273A>T c.2119A>T (p.Arg707Trp) c.2293A>T (p.Arg765Trp) | |
| 7 | g.41967731T>C | CA367321390 | GLI3 | c.2296A>G (p.Arg766Gly) c.2122A>G (p.Arg708Gly) n.2273A>G c.2119A>G (p.Arg707Gly) c.2293A>G (p.Arg765Gly) | gnomAD v4 |
| 7 | g.41967731T>G | CA454663423 | GLI3 | c.2296A>C (p.Arg766=) c.2122A>C (p.Arg708=) n.2273A>C c.2119A>C (p.Arg707=) c.2293A>C (p.Arg765=) | |
| 7 | g.41967732G>A | CA454663424 | GLI3 | c.2295C>T (p.Ala765=) c.2121C>T (p.Ala707=) n.2272C>T c.2118C>T (p.Ala706=) c.2292C>T (p.Ala764=) | dbSNP |
| 7 | g.41967732G>C | CA454663425 | GLI3 | c.2295C>G (p.Ala765=) c.2121C>G (p.Ala707=) n.2272C>G c.2118C>G (p.Ala706=) c.2292C>G (p.Ala764=) | dbSNP |
| 7 | g.41967732G= | CA1702661901 | GLI3 | c.2295C= (p.Ala765=) c.2121C= (p.Ala707=) n.2272C= c.2118C= (p.Ala706=) c.2292C= (p.Ala764=) | |
| 7 | g.41967732G>T | CA454663426 | GLI3 | c.2295C>A (p.Ala765=) c.2121C>A (p.Ala707=) n.2272C>A c.2118C>A (p.Ala706=) c.2292C>A (p.Ala764=) | dbSNP |
| 7 | g.41967733G>A | CA367321391 | GLI3 | c.2294C>T (p.Ala765Val) c.2120C>T (p.Ala707Val) n.2271C>T c.2117C>T (p.Ala706Val) c.2291C>T (p.Ala764Val) | |
| 7 | g.41967733G>C | CA367321392 | GLI3 | c.2294C>G (p.Ala765Gly) c.2120C>G (p.Ala707Gly) n.2271C>G c.2117C>G (p.Ala706Gly) c.2291C>G (p.Ala764Gly) | |
| 7 | g.41967733G>T | CA367321393 | GLI3 | c.2294C>A (p.Ala765Asp) c.2120C>A (p.Ala707Asp) n.2271C>A c.2117C>A (p.Ala706Asp) c.2291C>A (p.Ala764Asp) | |
| 7 | g.41967734C>A | CA367321394 | GLI3 | c.2293G>T (p.Ala765Ser) c.2119G>T (p.Ala707Ser) n.2270G>T c.2116G>T (p.Ala706Ser) c.2290G>T (p.Ala764Ser) | dbSNP gnomAD v2 |
| 7 | g.41967734C= | CA1702661902 | GLI3 | c.2293G= (p.Ala765=) c.2119G= (p.Ala707=) n.2270G= c.2116G= (p.Ala706=) c.2290G= (p.Ala764=) | |
| 7 | g.41967734C>G | CA367321395 | GLI3 | c.2293G>C (p.Ala765Pro) c.2119G>C (p.Ala707Pro) n.2270G>C c.2116G>C (p.Ala706Pro) c.2290G>C (p.Ala764Pro) | gnomAD v4 |
| 7 | g.41967734C>T | CA367321396 | GLI3 | c.2293G>A (p.Ala765Thr) c.2119G>A (p.Ala707Thr) n.2270G>A c.2116G>A (p.Ala706Thr) c.2290G>A (p.Ala764Thr) | dbSNP gnomAD v4 |
| 7 | g.41967735T>A | CA367321397 | GLI3 | c.2292A>T (p.Gln764His) c.2118A>T (p.Gln706His) n.2269A>T c.2115A>T (p.Gln705His) c.2289A>T (p.Gln763His) | |
| 7 | g.41967735T>C | CA454663427 | GLI3 | c.2292A>G (p.Gln764=) c.2118A>G (p.Gln706=) n.2269A>G c.2115A>G (p.Gln705=) c.2289A>G (p.Gln763=) | |
| 7 | g.41967735T>G | CA367321398 | GLI3 | c.2292A>C (p.Gln764His) c.2118A>C (p.Gln706His) n.2269A>C c.2115A>C (p.Gln705His) c.2289A>C (p.Gln763His) | |
| 7 | g.41967736del | CA2695207642 | GLI3 | c.2292del (p.Ala765ProfsTer14) c.2118del (p.Ala707ProfsTer14) n.2269del c.2115del (p.Ala706ProfsTer14) c.2289del (p.Ala764ProfsTer14) | |
| 7 | g.41967736T>A | CA367321399 | GLI3 | c.2291A>T (p.Gln764Leu) c.2117A>T (p.Gln706Leu) n.2268A>T c.2114A>T (p.Gln705Leu) c.2288A>T (p.Gln763Leu) | dbSNP |
| 7 | g.41967736T>C | CA4230645 | GLI3 | c.2291A>G (p.Gln764Arg) c.2117A>G (p.Gln706Arg) n.2268A>G c.2114A>G (p.Gln705Arg) c.2288A>G (p.Gln763Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41967736T>G | CA156909229 | GLI3 | c.2291A>C (p.Gln764Pro) c.2117A>C (p.Gln706Pro) n.2268A>C c.2114A>C (p.Gln705Pro) c.2288A>C (p.Gln763Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967736T= | CA1702661903 | GLI3 | c.2291A= (p.Gln764=) c.2117A= (p.Gln706=) n.2268A= c.2114A= (p.Gln705=) c.2288A= (p.Gln763=) | |
| 7 | g.41967737G>A | CA367321400 | GLI3 | c.2290C>T (p.Gln764Ter) c.2116C>T (p.Gln706Ter) n.2267C>T c.2113C>T (p.Gln705Ter) c.2287C>T (p.Gln763Ter) | dbSNP |
| 7 | g.41967737G>C | CA367321401 | GLI3 | c.2290C>G (p.Gln764Glu) c.2116C>G (p.Gln706Glu) n.2267C>G c.2113C>G (p.Gln705Glu) c.2287C>G (p.Gln763Glu) | dbSNP |
| 7 | g.41967737G= | CA1702661904 | GLI3 | c.2290C= (p.Gln764=) c.2116C= (p.Gln706=) n.2267C= c.2113C= (p.Gln705=) c.2287C= (p.Gln763=) | |
| 7 | g.41967737G>T | CA4230646 | GLI3 | c.2290C>A (p.Gln764Lys) c.2116C>A (p.Gln706Lys) n.2267C>A c.2113C>A (p.Gln705Lys) c.2287C>A (p.Gln763Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967738C>A | CA367321402 | GLI3 | c.2289G>T (p.Leu763Phe) c.2115G>T (p.Leu705Phe) n.2266G>T c.2112G>T (p.Leu704Phe) c.2286G>T (p.Leu762Phe) | dbSNP |
| 7 | g.41967738C= | CA1702661905 | GLI3 | c.2289G= (p.Leu763=) c.2115G= (p.Leu705=) n.2266G= c.2112G= (p.Leu704=) c.2286G= (p.Leu762=) | |
| 7 | g.41967738C>G | CA367321403 | GLI3 | c.2289G>C (p.Leu763Phe) c.2115G>C (p.Leu705Phe) n.2266G>C c.2112G>C (p.Leu704Phe) c.2286G>C (p.Leu762Phe) | dbSNP |
| 7 | g.41967738C>T | CA4230647 | GLI3 | c.2289G>A (p.Leu763=) c.2115G>A (p.Leu705=) n.2266G>A c.2112G>A (p.Leu704=) c.2286G>A (p.Leu762=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967739A= | CA1702661906 | GLI3 | c.2288T= (p.Leu763=) c.2114T= (p.Leu705=) n.2265T= c.2111T= (p.Leu704=) c.2285T= (p.Leu762=) | |
| 7 | g.41967739A>C | CA367321404 | GLI3 | c.2288T>G (p.Leu763Trp) c.2114T>G (p.Leu705Trp) n.2265T>G c.2111T>G (p.Leu704Trp) c.2285T>G (p.Leu762Trp) | |
| 7 | g.41967739A>G | CA4230648 | GLI3 | c.2288T>C (p.Leu763Ser) c.2114T>C (p.Leu705Ser) n.2265T>C c.2111T>C (p.Leu704Ser) c.2285T>C (p.Leu762Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41967739A>T | CA367321405 | GLI3 | c.2288T>A (p.Leu763Ter) c.2114T>A (p.Leu705Ter) n.2265T>A c.2111T>A (p.Leu704Ter) c.2285T>A (p.Leu762Ter) | dbSNP |
| 7 | g.41967740A>C | CA367321407 | GLI3 | c.2287T>G (p.Leu763Val) c.2113T>G (p.Leu705Val) n.2264T>G c.2110T>G (p.Leu704Val) c.2284T>G (p.Leu762Val) | |
| 7 | g.41967740A>G | CA454663428 | GLI3 | c.2287T>C (p.Leu763=) c.2113T>C (p.Leu705=) n.2264T>C c.2110T>C (p.Leu704=) c.2284T>C (p.Leu762=) | dbSNP gnomAD v4 |
| 7 | g.41967740A>T | CA367321406 | GLI3 | c.2287T>A (p.Leu763Met) c.2113T>A (p.Leu705Met) n.2264T>A c.2110T>A (p.Leu704Met) c.2284T>A (p.Leu762Met) | dbSNP |
| 7 | g.41967741A= | CA1702661907 | GLI3 | c.2286T= (p.Ala762=) c.2112T= (p.Ala704=) n.2263T= c.2109T= (p.Ala703=) c.2283T= (p.Ala761=) | |
| 7 | g.41967741A>C | CA454663429 | GLI3 | c.2286T>G (p.Ala762=) c.2112T>G (p.Ala704=) n.2263T>G c.2109T>G (p.Ala703=) c.2283T>G (p.Ala761=) | |
| 7 | g.41967741A>G | CA4230649 | GLI3 | c.2286T>C (p.Ala762=) c.2112T>C (p.Ala704=) n.2263T>C c.2109T>C (p.Ala703=) c.2283T>C (p.Ala761=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967741A>T | CA454663430 | GLI3 | c.2286T>A (p.Ala762=) c.2112T>A (p.Ala704=) n.2263T>A c.2109T>A (p.Ala703=) c.2283T>A (p.Ala761=) | dbSNP |
| 7 | g.41967742G>A | CA367321408 | GLI3 | c.2285C>T (p.Ala762Val) c.2111C>T (p.Ala704Val) n.2262C>T c.2108C>T (p.Ala703Val) c.2282C>T (p.Ala761Val) | dbSNP |
| 7 | g.41967742G>C | CA367321409 | GLI3 | c.2285C>G (p.Ala762Gly) c.2111C>G (p.Ala704Gly) n.2262C>G c.2108C>G (p.Ala703Gly) c.2282C>G (p.Ala761Gly) | dbSNP |
| 7 | g.41967742G>T | CA367321410 | GLI3 | c.2285C>A (p.Ala762Asp) c.2111C>A (p.Ala704Asp) n.2262C>A c.2108C>A (p.Ala703Asp) c.2282C>A (p.Ala761Asp) | gnomAD v4 |
| 7 | g.41967743C>A | CA367321411 | GLI3 | c.2284G>T (p.Ala762Ser) c.2110G>T (p.Ala704Ser) n.2261G>T c.2107G>T (p.Ala703Ser) c.2281G>T (p.Ala761Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41967743C>G | CA367321412 | GLI3 | c.2284G>C (p.Ala762Pro) c.2110G>C (p.Ala704Pro) n.2261G>C c.2107G>C (p.Ala703Pro) c.2281G>C (p.Ala761Pro) | dbSNP |
| 7 | g.41967743C>T | CA367321413 | GLI3 | c.2284G>A (p.Ala762Thr) c.2110G>A (p.Ala704Thr) n.2261G>A c.2107G>A (p.Ala703Thr) c.2281G>A (p.Ala761Thr) | |
| 7 | g.41967743_41967744del | CA2775169007 | GLI3 | c.2283_2284del (p.Ala762PhefsTer?) c.2109_2110del (p.Ala704PhefsTer?) n.2260_2261del c.2106_2107del (p.Ala703PhefsTer?) c.2280_2281del (p.Ala761PhefsTer?) | |
| 7 | g.41967744A= | CA1702661908 | GLI3 | c.2283T= (p.Leu761=) c.2109T= (p.Leu703=) n.2260T= c.2106T= (p.Leu702=) c.2280T= (p.Leu760=) | |
| 7 | g.41967744A>C | CA454663431 | GLI3 | c.2283T>G (p.Leu761=) c.2109T>G (p.Leu703=) n.2260T>G c.2106T>G (p.Leu702=) c.2280T>G (p.Leu760=) | |
| 7 | g.41967744A>G | CA454663433 | GLI3 | c.2283T>C (p.Leu761=) c.2109T>C (p.Leu703=) n.2260T>C c.2106T>C (p.Leu702=) c.2280T>C (p.Leu760=) | dbSNP gnomAD v4 |
| 7 | g.41967744A>T | CA454663432 | GLI3 | c.2283T>A (p.Leu761=) c.2109T>A (p.Leu703=) n.2260T>A c.2106T>A (p.Leu702=) c.2280T>A (p.Leu760=) | dbSNP |
| 7 | g.41967745A>C | CA367321414 | GLI3 | c.2282T>G (p.Leu761Arg) c.2108T>G (p.Leu703Arg) n.2259T>G c.2105T>G (p.Leu702Arg) c.2279T>G (p.Leu760Arg) | |
| 7 | g.41967745A>G | CA367321416 | GLI3 | c.2282T>C (p.Leu761Pro) c.2108T>C (p.Leu703Pro) n.2259T>C c.2105T>C (p.Leu702Pro) c.2279T>C (p.Leu760Pro) | dbSNP |
| 7 | g.41967745A>T | CA367321415 | GLI3 | c.2282T>A (p.Leu761His) c.2108T>A (p.Leu703His) n.2259T>A c.2105T>A (p.Leu702His) c.2279T>A (p.Leu760His) | dbSNP |
| 7 | g.41967746G>A | CA367321417 | GLI3 | c.2281C>T (p.Leu761Phe) c.2107C>T (p.Leu703Phe) n.2258C>T c.2104C>T (p.Leu702Phe) c.2278C>T (p.Leu760Phe) | dbSNP |
| 7 | g.41967746G>C | CA367321418 | GLI3 | c.2281C>G (p.Leu761Val) c.2107C>G (p.Leu703Val) n.2258C>G c.2104C>G (p.Leu702Val) c.2278C>G (p.Leu760Val) | dbSNP gnomAD v4 |
| 7 | g.41967746G>T | CA367321419 | GLI3 | c.2281C>A (p.Leu761Ile) c.2107C>A (p.Leu703Ile) n.2258C>A c.2104C>A (p.Leu702Ile) c.2278C>A (p.Leu760Ile) | gnomAD v4 |
| 7 | g.41967747G>A | CA454663434 | GLI3 | c.2280C>T (p.Ala760=) c.2106C>T (p.Ala702=) n.2257C>T c.2103C>T (p.Ala701=) c.2277C>T (p.Ala759=) | dbSNP |
| 7 | g.41967747G>C | CA454663435 | GLI3 | c.2280C>G (p.Ala760=) c.2106C>G (p.Ala702=) n.2257C>G c.2103C>G (p.Ala701=) c.2277C>G (p.Ala759=) | dbSNP |
| 7 | g.41967747G>T | CA454663436 | GLI3 | c.2280C>A (p.Ala760=) c.2106C>A (p.Ala702=) n.2257C>A c.2103C>A (p.Ala701=) c.2277C>A (p.Ala759=) | dbSNP |
| 7 | g.41967748G>A | CA367321420 | GLI3 | c.2279C>T (p.Ala760Val) c.2105C>T (p.Ala702Val) n.2256C>T c.2102C>T (p.Ala701Val) c.2276C>T (p.Ala759Val) | dbSNP |
| 7 | g.41967748G>C | CA367321421 | GLI3 | c.2279C>G (p.Ala760Gly) c.2105C>G (p.Ala702Gly) n.2256C>G c.2102C>G (p.Ala701Gly) c.2276C>G (p.Ala759Gly) | dbSNP gnomAD v4 |
| 7 | g.41967748G>T | CA367321422 | GLI3 | c.2279C>A (p.Ala760Asp) c.2105C>A (p.Ala702Asp) n.2256C>A c.2102C>A (p.Ala701Asp) c.2276C>A (p.Ala759Asp) | dbSNP |
| 7 | g.41967749C>A | CA367321423 | GLI3 | c.2278G>T (p.Ala760Ser) c.2104G>T (p.Ala702Ser) n.2255G>T c.2101G>T (p.Ala701Ser) c.2275G>T (p.Ala759Ser) | dbSNP |
| 7 | g.41967749C>G | CA367321424 | GLI3 | c.2278G>C (p.Ala760Pro) c.2104G>C (p.Ala702Pro) n.2255G>C c.2101G>C (p.Ala701Pro) c.2275G>C (p.Ala759Pro) | dbSNP |
| 7 | g.41967749C>T | CA367321425 | GLI3 | c.2278G>A (p.Ala760Thr) c.2104G>A (p.Ala702Thr) n.2255G>A c.2101G>A (p.Ala701Thr) c.2275G>A (p.Ala759Thr) | dbSNP |
| 7 | g.41967750T>A | CA454663437 | GLI3 | c.2277A>T (p.Thr759=) c.2103A>T (p.Thr701=) n.2254A>T c.2100A>T (p.Thr700=) c.2274A>T (p.Thr758=) | dbSNP |
| 7 | g.41967750T>C | CA454663438 | GLI3 | c.2277A>G (p.Thr759=) c.2103A>G (p.Thr701=) n.2254A>G c.2100A>G (p.Thr700=) c.2274A>G (p.Thr758=) | dbSNP |
| 7 | g.41967750T>G | CA454663439 | GLI3 | c.2277A>C (p.Thr759=) c.2103A>C (p.Thr701=) n.2254A>C c.2100A>C (p.Thr700=) c.2274A>C (p.Thr758=) | |
| 7 | g.41967751G>A | CA367321426 | GLI3 | c.2276C>T (p.Thr759Ile) c.2102C>T (p.Thr701Ile) n.2253C>T c.2099C>T (p.Thr700Ile) c.2273C>T (p.Thr758Ile) | dbSNP gnomAD v4 |
| 7 | g.41967751G>C | CA367321427 | GLI3 | c.2276C>G (p.Thr759Arg) c.2102C>G (p.Thr701Arg) n.2253C>G c.2099C>G (p.Thr700Arg) c.2273C>G (p.Thr758Arg) | dbSNP gnomAD v4 |
| 7 | g.41967751G= | CA1702661909 | GLI3 | c.2276C= (p.Thr759=) c.2102C= (p.Thr701=) n.2253C= c.2099C= (p.Thr700=) c.2273C= (p.Thr758=) | |
| 7 | g.41967751G>T | CA367321428 | GLI3 | c.2276C>A (p.Thr759Lys) c.2102C>A (p.Thr701Lys) n.2253C>A c.2099C>A (p.Thr700Lys) c.2273C>A (p.Thr758Lys) | |
| 7 | g.41967752T>A | CA367321429 | GLI3 | c.2275A>T (p.Thr759Ser) c.2101A>T (p.Thr701Ser) n.2252A>T c.2098A>T (p.Thr700Ser) c.2272A>T (p.Thr758Ser) | |
| 7 | g.41967752T>C | CA367321431 | GLI3 | c.2275A>G (p.Thr759Ala) c.2101A>G (p.Thr701Ala) n.2252A>G c.2098A>G (p.Thr700Ala) c.2272A>G (p.Thr758Ala) | |
| 7 | g.41967752T>G | CA367321430 | GLI3 | c.2275A>C (p.Thr759Pro) c.2101A>C (p.Thr701Pro) n.2252A>C c.2098A>C (p.Thr700Pro) c.2272A>C (p.Thr758Pro) | |
| 7 | g.41967753G>A | CA454663442 | GLI3 | c.2274C>T (p.Thr758=) c.2100C>T (p.Thr700=) n.2251C>T c.2097C>T (p.Thr699=) c.2271C>T (p.Thr757=) | dbSNP |
| 7 | g.41967753G>C | CA454663440 | GLI3 | c.2274C>G (p.Thr758=) c.2100C>G (p.Thr700=) n.2251C>G c.2097C>G (p.Thr699=) c.2271C>G (p.Thr757=) | gnomAD v4 |
| 7 | g.41967753G>T | CA454663441 | GLI3 | c.2274C>A (p.Thr758=) c.2100C>A (p.Thr700=) n.2251C>A c.2097C>A (p.Thr699=) c.2271C>A (p.Thr757=) | |
| 7 | g.41967754G>A | CA367321432 | GLI3 | c.2273C>T (p.Thr758Ile) c.2099C>T (p.Thr700Ile) n.2250C>T c.2096C>T (p.Thr699Ile) c.2270C>T (p.Thr757Ile) | dbSNP gnomAD v4 |
| 7 | g.41967754G>C | CA367321433 | GLI3 | c.2273C>G (p.Thr758Ser) c.2099C>G (p.Thr700Ser) n.2250C>G c.2096C>G (p.Thr699Ser) c.2270C>G (p.Thr757Ser) | dbSNP |
| 7 | g.41967754G>T | CA367321434 | GLI3 | c.2273C>A (p.Thr758Asn) c.2099C>A (p.Thr700Asn) n.2250C>A c.2096C>A (p.Thr699Asn) c.2270C>A (p.Thr757Asn) | |
| 7 | g.41967755T>A | CA367321435 | GLI3 | c.2272A>T (p.Thr758Ser) c.2098A>T (p.Thr700Ser) n.2249A>T c.2095A>T (p.Thr699Ser) c.2269A>T (p.Thr757Ser) | dbSNP |
| 7 | g.41967755T>C | CA367321436 | GLI3 | c.2272A>G (p.Thr758Ala) c.2098A>G (p.Thr700Ala) n.2249A>G c.2095A>G (p.Thr699Ala) c.2269A>G (p.Thr757Ala) | |
| 7 | g.41967755T>G | CA367321437 | GLI3 | c.2272A>C (p.Thr758Pro) c.2098A>C (p.Thr700Pro) n.2249A>C c.2095A>C (p.Thr699Pro) c.2269A>C (p.Thr757Pro) | |
| 7 | g.41967756T>A | CA454663443 | GLI3 | c.2271A>T (p.Ala757=) c.2097A>T (p.Ala699=) n.2248A>T c.2094A>T (p.Ala698=) c.2268A>T (p.Ala756=) | dbSNP |
| 7 | g.41967756T>C | CA454663444 | GLI3 | c.2271A>G (p.Ala757=) c.2097A>G (p.Ala699=) n.2248A>G c.2094A>G (p.Ala698=) c.2268A>G (p.Ala756=) | |
| 7 | g.41967756T>G | CA454663445 | GLI3 | c.2271A>C (p.Ala757=) c.2097A>C (p.Ala699=) n.2248A>C c.2094A>C (p.Ala698=) c.2268A>C (p.Ala756=) | |
| 7 | g.41967757G>A | CA367321438 | GLI3 | c.2270C>T (p.Ala757Val) c.2096C>T (p.Ala699Val) n.2247C>T c.2093C>T (p.Ala698Val) c.2267C>T (p.Ala756Val) | dbSNP |
| 7 | g.41967757G>C | CA367321439 | GLI3 | c.2270C>G (p.Ala757Gly) c.2096C>G (p.Ala699Gly) n.2247C>G c.2093C>G (p.Ala698Gly) c.2267C>G (p.Ala756Gly) | dbSNP |
| 7 | g.41967757G>T | CA367321440 | GLI3 | c.2270C>A (p.Ala757Glu) c.2096C>A (p.Ala699Glu) n.2247C>A c.2093C>A (p.Ala698Glu) c.2267C>A (p.Ala756Glu) | |
| 7 | g.41967758C>A | CA367321441 | GLI3 | c.2269G>T (p.Ala757Ser) c.2095G>T (p.Ala699Ser) n.2246G>T c.2092G>T (p.Ala698Ser) c.2266G>T (p.Ala756Ser) | |
| 7 | g.41967758C= | CA1702661910 | GLI3 | c.2269G= (p.Ala757=) c.2095G= (p.Ala699=) n.2246G= c.2092G= (p.Ala698=) c.2266G= (p.Ala756=) | |
| 7 | g.41967758C>G | CA367321442 | GLI3 | c.2269G>C (p.Ala757Pro) c.2095G>C (p.Ala699Pro) n.2246G>C c.2092G>C (p.Ala698Pro) c.2266G>C (p.Ala756Pro) | dbSNP |
| 7 | g.41967758C>T | CA367321443 | GLI3 | c.2269G>A (p.Ala757Thr) c.2095G>A (p.Ala699Thr) n.2246G>A c.2092G>A (p.Ala698Thr) c.2266G>A (p.Ala756Thr) | dbSNP |
| 7 | g.41967759A>C | CA454663446 | GLI3 | c.2268T>G (p.Thr756=) c.2094T>G (p.Thr698=) n.2245T>G c.2091T>G (p.Thr697=) c.2265T>G (p.Thr755=) | |
| 7 | g.41967759A>G | CA454663447 | GLI3 | c.2268T>C (p.Thr756=) c.2094T>C (p.Thr698=) n.2245T>C c.2091T>C (p.Thr697=) c.2265T>C (p.Thr755=) | dbSNP |
| 7 | g.41967759A>T | CA454663448 | GLI3 | c.2268T>A (p.Thr756=) c.2094T>A (p.Thr698=) n.2245T>A c.2091T>A (p.Thr697=) c.2265T>A (p.Thr755=) | dbSNP |
| 7 | g.41967760G>A | CA367321445 | GLI3 | c.2267C>T (p.Thr756Ile) c.2093C>T (p.Thr698Ile) n.2244C>T c.2090C>T (p.Thr697Ile) c.2264C>T (p.Thr755Ile) | dbSNP |
| 7 | g.41967760G>C | CA367321446 | GLI3 | c.2267C>G (p.Thr756Ser) c.2093C>G (p.Thr698Ser) n.2244C>G c.2090C>G (p.Thr697Ser) c.2264C>G (p.Thr755Ser) | dbSNP |
| 7 | g.41967760G>T | CA367321444 | GLI3 | c.2267C>A (p.Thr756Asn) c.2093C>A (p.Thr698Asn) n.2244C>A c.2090C>A (p.Thr697Asn) c.2264C>A (p.Thr755Asn) | |
| 7 | g.41967761T>A | CA367321447 | GLI3 | c.2266A>T (p.Thr756Ser) c.2092A>T (p.Thr698Ser) n.2243A>T c.2089A>T (p.Thr697Ser) c.2263A>T (p.Thr755Ser) | dbSNP gnomAD v4 |
| 7 | g.41967761T>C | CA367321448 | GLI3 | c.2266A>G (p.Thr756Ala) c.2092A>G (p.Thr698Ala) n.2243A>G c.2089A>G (p.Thr697Ala) c.2263A>G (p.Thr755Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41967761T>G | CA367321449 | GLI3 | c.2266A>C (p.Thr756Pro) c.2092A>C (p.Thr698Pro) n.2243A>C c.2089A>C (p.Thr697Pro) c.2263A>C (p.Thr755Pro) | |
| 7 | g.41967761T= | CA1702661911 | GLI3 | c.2266A= (p.Thr756=) c.2092A= (p.Thr698=) n.2243A= c.2089A= (p.Thr697=) c.2263A= (p.Thr755=) | |
| 7 | g.41967762G>A | CA454663449 | GLI3 | c.2265C>T (p.Ser755=) c.2091C>T (p.Ser697=) n.2242C>T c.2088C>T (p.Ser696=) c.2262C>T (p.Ser754=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.41967762G>C | CA454663450 | GLI3 | c.2265C>G (p.Ser755=) c.2091C>G (p.Ser697=) n.2242C>G c.2088C>G (p.Ser696=) c.2262C>G (p.Ser754=) | dbSNP |
| 7 | g.41967762G= | CA1702661912 | GLI3 | c.2265C= (p.Ser755=) c.2091C= (p.Ser697=) n.2242C= c.2088C= (p.Ser696=) c.2262C= (p.Ser754=) | |
| 7 | g.41967762G>T | CA454663451 | GLI3 | c.2265C>A (p.Ser755=) c.2091C>A (p.Ser697=) n.2242C>A c.2088C>A (p.Ser696=) c.2262C>A (p.Ser754=) | |
| 7 | g.41967763G>A | CA367321450 | GLI3 | c.2264C>T (p.Ser755Phe) c.2090C>T (p.Ser697Phe) n.2241C>T c.2087C>T (p.Ser696Phe) c.2261C>T (p.Ser754Phe) | ClinVar dbSNP |
| 7 | g.41967763G>C | CA367321451 | GLI3 | c.2264C>G (p.Ser755Cys) c.2090C>G (p.Ser697Cys) n.2241C>G c.2087C>G (p.Ser696Cys) c.2261C>G (p.Ser754Cys) | dbSNP |
| 7 | g.41967763G>T | CA367321452 | GLI3 | c.2264C>A (p.Ser755Tyr) c.2090C>A (p.Ser697Tyr) n.2241C>A c.2087C>A (p.Ser696Tyr) c.2261C>A (p.Ser754Tyr) | |
| 7 | g.41967764A>C | CA367321453 | GLI3 | c.2263T>G (p.Ser755Ala) c.2089T>G (p.Ser697Ala) n.2240T>G c.2086T>G (p.Ser696Ala) c.2260T>G (p.Ser754Ala) | |
| 7 | g.41967764A>G | CA367321455 | GLI3 | c.2263T>C (p.Ser755Pro) c.2089T>C (p.Ser697Pro) n.2240T>C c.2086T>C (p.Ser696Pro) c.2260T>C (p.Ser754Pro) | |
| 7 | g.41967764A>T | CA367321454 | GLI3 | c.2263T>A (p.Ser755Thr) c.2089T>A (p.Ser697Thr) n.2240T>A c.2086T>A (p.Ser696Thr) c.2260T>A (p.Ser754Thr) | dbSNP |
| 7 | g.41967765A>C | CA367321456 | GLI3 | c.2262T>G (p.Ile754Met) c.2088T>G (p.Ile696Met) n.2239T>G c.2085T>G (p.Ile695Met) c.2259T>G (p.Ile753Met) | |
| 7 | g.41967765A>G | CA454663452 | GLI3 | c.2262T>C (p.Ile754=) c.2088T>C (p.Ile696=) n.2239T>C c.2085T>C (p.Ile695=) c.2259T>C (p.Ile753=) | |
| 7 | g.41967765A>T | CA454663453 | GLI3 | c.2262T>A (p.Ile754=) c.2088T>A (p.Ile696=) n.2239T>A c.2085T>A (p.Ile695=) c.2259T>A (p.Ile753=) | dbSNP |
| 7 | g.41967766A>C | CA367321457 | GLI3 | c.2261T>G (p.Ile754Ser) c.2087T>G (p.Ile696Ser) n.2238T>G c.2084T>G (p.Ile695Ser) c.2258T>G (p.Ile753Ser) | dbSNP |
| 7 | g.41967766A>G | CA367321458 | GLI3 | c.2261T>C (p.Ile754Thr) c.2087T>C (p.Ile696Thr) n.2238T>C c.2084T>C (p.Ile695Thr) c.2258T>C (p.Ile753Thr) | |
| 7 | g.41967766A>T | CA367321459 | GLI3 | c.2261T>A (p.Ile754Asn) c.2087T>A (p.Ile696Asn) n.2238T>A c.2084T>A (p.Ile695Asn) c.2258T>A (p.Ile753Asn) | dbSNP |
| 7 | g.41967767T>A | CA367321460 | GLI3 | c.2260A>T (p.Ile754Phe) c.2086A>T (p.Ile696Phe) n.2237A>T c.2083A>T (p.Ile695Phe) c.2257A>T (p.Ile753Phe) | |
| 7 | g.41967767T>C | CA4230650 | GLI3 | c.2260A>G (p.Ile754Val) c.2086A>G (p.Ile696Val) n.2237A>G c.2083A>G (p.Ile695Val) c.2257A>G (p.Ile753Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41967767T>G | CA367321461 | GLI3 | c.2260A>C (p.Ile754Leu) c.2086A>C (p.Ile696Leu) n.2237A>C c.2083A>C (p.Ile695Leu) c.2257A>C (p.Ile753Leu) | |
| 7 | g.41967767T= | CA1702661913 | GLI3 | c.2260A= (p.Ile754=) c.2086A= (p.Ile696=) n.2237A= c.2083A= (p.Ile695=) c.2257A= (p.Ile753=) | |
| 7 | g.41967768G>A | CA454663454 | GLI3 | c.2259C>T (p.Thr753=) c.2085C>T (p.Thr695=) n.2236C>T c.2082C>T (p.Thr694=) c.2256C>T (p.Thr752=) | dbSNP gnomAD v4 |
| 7 | g.41967768G>C | CA454663455 | GLI3 | c.2259C>G (p.Thr753=) c.2085C>G (p.Thr695=) n.2236C>G c.2082C>G (p.Thr694=) c.2256C>G (p.Thr752=) | dbSNP |
| 7 | g.41967768G>T | CA454663456 | GLI3 | c.2259C>A (p.Thr753=) c.2085C>A (p.Thr695=) n.2236C>A c.2082C>A (p.Thr694=) c.2256C>A (p.Thr752=) | dbSNP |
| 7 | g.41967769G>A | CA367321462 | GLI3 | c.2258C>T (p.Thr753Ile) c.2084C>T (p.Thr695Ile) n.2235C>T c.2081C>T (p.Thr694Ile) c.2255C>T (p.Thr752Ile) | dbSNP gnomAD v4 |
| 7 | g.41967769G>C | CA367321464 | GLI3 | c.2258C>G (p.Thr753Ser) c.2084C>G (p.Thr695Ser) n.2235C>G c.2081C>G (p.Thr694Ser) c.2255C>G (p.Thr752Ser) | dbSNP |
| 7 | g.41967769G>T | CA367321463 | GLI3 | c.2258C>A (p.Thr753Asn) c.2084C>A (p.Thr695Asn) n.2235C>A c.2081C>A (p.Thr694Asn) c.2255C>A (p.Thr752Asn) | |
| 7 | g.41967770T>A | CA367321465 | GLI3 | c.2257A>T (p.Thr753Ser) c.2083A>T (p.Thr695Ser) n.2234A>T c.2080A>T (p.Thr694Ser) c.2254A>T (p.Thr752Ser) | dbSNP |
| 7 | g.41967770T>C | CA4230651 | GLI3 | c.2257A>G (p.Thr753Ala) c.2083A>G (p.Thr695Ala) n.2234A>G c.2080A>G (p.Thr694Ala) c.2254A>G (p.Thr752Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967770T>G | CA367321466 | GLI3 | c.2257A>C (p.Thr753Pro) c.2083A>C (p.Thr695Pro) n.2234A>C c.2080A>C (p.Thr694Pro) c.2254A>C (p.Thr752Pro) | dbSNP |
| 7 | g.41967770T= | CA1702661914 | GLI3 | c.2257A= (p.Thr753=) c.2083A= (p.Thr695=) n.2234A= c.2080A= (p.Thr694=) c.2254A= (p.Thr752=) | |
| 7 | g.41967771T>A | CA454663457 | GLI3 | c.2256A>T (p.Ser752=) c.2082A>T (p.Ser694=) n.2233A>T c.2079A>T (p.Ser693=) c.2253A>T (p.Ser751=) | dbSNP |
| 7 | g.41967771T>C | CA454663458 | GLI3 | c.2256A>G (p.Ser752=) c.2082A>G (p.Ser694=) n.2233A>G c.2079A>G (p.Ser693=) c.2253A>G (p.Ser751=) | |
| 7 | g.41967771T>G | CA454663459 | GLI3 | c.2256A>C (p.Ser752=) c.2082A>C (p.Ser694=) n.2233A>C c.2079A>C (p.Ser693=) c.2253A>C (p.Ser751=) | |
| 7 | g.41967772G>A | CA367321467 | GLI3 | c.2255C>T (p.Ser752Leu) c.2081C>T (p.Ser694Leu) n.2232C>T c.2078C>T (p.Ser693Leu) c.2252C>T (p.Ser751Leu) | dbSNP gnomAD v4 COSMIC |
| 7 | g.41967772G>C | CA367321468 | GLI3 | c.2255C>G (p.Ser752Ter) c.2081C>G (p.Ser694Ter) n.2232C>G c.2078C>G (p.Ser693Ter) c.2252C>G (p.Ser751Ter) | dbSNP |
| 7 | g.41967772G>T | CA367321469 | GLI3 | c.2255C>A (p.Ser752Ter) c.2081C>A (p.Ser694Ter) n.2232C>A c.2078C>A (p.Ser693Ter) c.2252C>A (p.Ser751Ter) | |
| 7 | g.41967773A>C | CA367321470 | GLI3 | c.2254T>G (p.Ser752Ala) c.2080T>G (p.Ser694Ala) n.2231T>G c.2077T>G (p.Ser693Ala) c.2251T>G (p.Ser751Ala) | |
| 7 | g.41967773A>G | CA367321471 | GLI3 | c.2254T>C (p.Ser752Pro) c.2080T>C (p.Ser694Pro) n.2231T>C c.2077T>C (p.Ser693Pro) c.2251T>C (p.Ser751Pro) | |
| 7 | g.41967773A>T | CA367321472 | GLI3 | c.2254T>A (p.Ser752Thr) c.2080T>A (p.Ser694Thr) n.2231T>A c.2077T>A (p.Ser693Thr) c.2251T>A (p.Ser751Thr) | dbSNP |
| 7 | g.41967774G>A | CA454663460 | GLI3 | c.2253C>T (p.Asp751=) c.2079C>T (p.Asp693=) n.2230C>T c.2076C>T (p.Asp692=) c.2250C>T (p.Asp750=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967774G>C | CA367321473 | GLI3 | c.2253C>G (p.Asp751Glu) c.2079C>G (p.Asp693Glu) n.2230C>G c.2076C>G (p.Asp692Glu) c.2250C>G (p.Asp750Glu) | dbSNP |
| 7 | g.41967774G= | CA1702661916 | GLI3 | c.2253C= (p.Asp751=) c.2079C= (p.Asp693=) n.2230C= c.2076C= (p.Asp692=) c.2250C= (p.Asp750=) | |
| 7 | g.41967774G>T | CA367321474 | GLI3 | c.2253C>A (p.Asp751Glu) c.2079C>A (p.Asp693Glu) n.2230C>A c.2076C>A (p.Asp692Glu) c.2250C>A (p.Asp750Glu) | |
| 7 | g.41967774_41967775delinsGT | CA1702661915 | GLI3 | c.2252_2253delinsAC (p.Asp751=) c.2078_2079delinsAC (p.Asp693=) n.2229_2230delinsAC c.2075_2076delinsAC (p.Asp692=) c.2249_2250delinsAC (p.Asp750=) | |
| 7 | g.41967775del | CA16043665 | GLI3 | c.2252del (p.Asp751AlafsTer28) c.2078del (p.Asp693AlafsTer28) n.2229del c.2075del (p.Asp692AlafsTer28) c.2249del (p.Asp750AlafsTer28) | ClinVar dbSNP |
| 7 | g.41967775T>A | CA367321477 | GLI3 | c.2252A>T (p.Asp751Val) c.2078A>T (p.Asp693Val) n.2229A>T c.2075A>T (p.Asp692Val) c.2249A>T (p.Asp750Val) | |
| 7 | g.41967775T>C | CA367321476 | GLI3 | c.2252A>G (p.Asp751Gly) c.2078A>G (p.Asp693Gly) n.2229A>G c.2075A>G (p.Asp692Gly) c.2249A>G (p.Asp750Gly) | |
| 7 | g.41967775T>G | CA367321475 | GLI3 | c.2252A>C (p.Asp751Ala) c.2078A>C (p.Asp693Ala) n.2229A>C c.2075A>C (p.Asp692Ala) c.2249A>C (p.Asp750Ala) | dbSNP |
| 7 | g.41967776C>A | CA367321478 | GLI3 | c.2251G>T (p.Asp751Tyr) c.2077G>T (p.Asp693Tyr) n.2228G>T c.2074G>T (p.Asp692Tyr) c.2248G>T (p.Asp750Tyr) | dbSNP |
| 7 | g.41967776C>G | CA367321479 | GLI3 | c.2251G>C (p.Asp751His) c.2077G>C (p.Asp693His) n.2228G>C c.2074G>C (p.Asp692His) c.2248G>C (p.Asp750His) | dbSNP |
| 7 | g.41967776C>T | CA367321480 | GLI3 | c.2251G>A (p.Asp751Asn) c.2077G>A (p.Asp693Asn) n.2228G>A c.2074G>A (p.Asp692Asn) c.2248G>A (p.Asp750Asn) | dbSNP COSMIC |
| 7 | g.41967777C>A | CA367321481 | GLI3 | c.2250G>T (p.Met750Ile) c.2076G>T (p.Met692Ile) n.2227G>T c.2073G>T (p.Met691Ile) c.2247G>T (p.Met749Ile) | dbSNP |
| 7 | g.41967777C= | CA1702661917 | GLI3 | c.2250G= (p.Met750=) c.2076G= (p.Met692=) n.2227G= c.2073G= (p.Met691=) c.2247G= (p.Met749=) | |
| 7 | g.41967777C>G | CA367321482 | GLI3 | c.2250G>C (p.Met750Ile) c.2076G>C (p.Met692Ile) n.2227G>C c.2073G>C (p.Met691Ile) c.2247G>C (p.Met749Ile) | dbSNP gnomAD v4 |
| 7 | g.41967777C>T | CA156909266 | GLI3 | c.2250G>A (p.Met750Ile) c.2076G>A (p.Met692Ile) n.2227G>A c.2073G>A (p.Met691Ile) c.2247G>A (p.Met749Ile) | dbSNP gnomAD v4 COSMIC |
| 7 | g.41967778A= | CA1702661918 | GLI3 | c.2249T= (p.Met750=) c.2075T= (p.Met692=) n.2226T= c.2072T= (p.Met691=) c.2246T= (p.Met749=) | |
| 7 | g.41967778A>C | CA367321483 | GLI3 | c.2249T>G (p.Met750Arg) c.2075T>G (p.Met692Arg) n.2226T>G c.2072T>G (p.Met691Arg) c.2246T>G (p.Met749Arg) | |
| 7 | g.41967778A>G | CA4230652 | GLI3 | c.2249T>C (p.Met750Thr) c.2075T>C (p.Met692Thr) n.2226T>C c.2072T>C (p.Met691Thr) c.2246T>C (p.Met749Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41967778A>T | CA367321484 | GLI3 | c.2249T>A (p.Met750Lys) c.2075T>A (p.Met692Lys) n.2226T>A c.2072T>A (p.Met691Lys) c.2246T>A (p.Met749Lys) | dbSNP |
| 7 | g.41967779T>A | CA367321485 | GLI3 | c.2248A>T (p.Met750Leu) c.2074A>T (p.Met692Leu) n.2225A>T c.2071A>T (p.Met691Leu) c.2245A>T (p.Met749Leu) | dbSNP |
| 7 | g.41967779T>C | CA4230653 | GLI3 | c.2248A>G (p.Met750Val) c.2074A>G (p.Met692Val) n.2225A>G c.2071A>G (p.Met691Val) c.2245A>G (p.Met749Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41967779T>G | CA367321486 | GLI3 | c.2248A>C (p.Met750Leu) c.2074A>C (p.Met692Leu) n.2225A>C c.2071A>C (p.Met691Leu) c.2245A>C (p.Met749Leu) | |
| 7 | g.41967779T= | CA1702661919 | GLI3 | c.2248A= (p.Met750=) c.2074A= (p.Met692=) n.2225A= c.2071A= (p.Met691=) c.2245A= (p.Met749=) | |
| 7 | g.41967780G>A | CA454663461 | GLI3 | c.2247C>T (p.Ile749=) c.2073C>T (p.Ile691=) n.2224C>T c.2070C>T (p.Ile690=) c.2244C>T (p.Ile748=) | dbSNP |
| 7 | g.41967780G>C | CA367321487 | GLI3 | c.2247C>G (p.Ile749Met) c.2073C>G (p.Ile691Met) n.2224C>G c.2070C>G (p.Ile690Met) c.2244C>G (p.Ile748Met) | dbSNP |
| 7 | g.41967780G>T | CA454663462 | GLI3 | c.2247C>A (p.Ile749=) c.2073C>A (p.Ile691=) n.2224C>A c.2070C>A (p.Ile690=) c.2244C>A (p.Ile748=) | |
| 7 | g.41967781A>C | CA367321490 | GLI3 | c.2246T>G (p.Ile749Ser) c.2072T>G (p.Ile691Ser) n.2223T>G c.2069T>G (p.Ile690Ser) c.2243T>G (p.Ile748Ser) | |
| 7 | g.41967781A>G | CA367321488 | GLI3 | c.2246T>C (p.Ile749Thr) c.2072T>C (p.Ile691Thr) n.2223T>C c.2069T>C (p.Ile690Thr) c.2243T>C (p.Ile748Thr) | |
| 7 | g.41967781A>T | CA367321489 | GLI3 | c.2246T>A (p.Ile749Asn) c.2072T>A (p.Ile691Asn) n.2223T>A c.2069T>A (p.Ile690Asn) c.2243T>A (p.Ile748Asn) | dbSNP |
| 7 | g.41967782T>A | CA367321491 | GLI3 | c.2245A>T (p.Ile749Phe) c.2071A>T (p.Ile691Phe) n.2222A>T c.2068A>T (p.Ile690Phe) c.2242A>T (p.Ile748Phe) | |
| 7 | g.41967782T>C | CA4230654 | GLI3 | c.2245A>G (p.Ile749Val) c.2071A>G (p.Ile691Val) n.2222A>G c.2068A>G (p.Ile690Val) c.2242A>G (p.Ile748Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967782T>G | CA367321492 | GLI3 | c.2245A>C (p.Ile749Leu) c.2071A>C (p.Ile691Leu) n.2222A>C c.2068A>C (p.Ile690Leu) c.2242A>C (p.Ile748Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41967782T= | CA1702661920 | GLI3 | c.2245A= (p.Ile749=) c.2071A= (p.Ile691=) n.2222A= c.2068A= (p.Ile690=) c.2242A= (p.Ile748=) | |
| 7 | g.41967783T>A | CA454663463 | GLI3 | c.2244A>T (p.Pro748=) c.2070A>T (p.Pro690=) n.2221A>T c.2067A>T (p.Pro689=) c.2241A>T (p.Pro747=) | |
| 7 | g.41967783T>C | CA454663464 | GLI3 | c.2244A>G (p.Pro748=) c.2070A>G (p.Pro690=) n.2221A>G c.2067A>G (p.Pro689=) c.2241A>G (p.Pro747=) | |
| 7 | g.41967783T>G | CA454663465 | GLI3 | c.2244A>C (p.Pro748=) c.2070A>C (p.Pro690=) n.2221A>C c.2067A>C (p.Pro689=) c.2241A>C (p.Pro747=) | |
| 7 | g.41967784G>A | CA367321493 | GLI3 | c.2243C>T (p.Pro748Leu) c.2069C>T (p.Pro690Leu) n.2220C>T c.2066C>T (p.Pro689Leu) c.2240C>T (p.Pro747Leu) | dbSNP gnomAD v4 |
| 7 | g.41967784G>C | CA367321494 | GLI3 | c.2243C>G (p.Pro748Arg) c.2069C>G (p.Pro690Arg) n.2220C>G c.2066C>G (p.Pro689Arg) c.2240C>G (p.Pro747Arg) | |
| 7 | g.41967784G>T | CA367321495 | GLI3 | c.2243C>A (p.Pro748Gln) c.2069C>A (p.Pro690Gln) n.2220C>A c.2066C>A (p.Pro689Gln) c.2240C>A (p.Pro747Gln) | dbSNP |
| 7 | g.41967785G>A | CA367321496 | GLI3 | c.2242C>T (p.Pro748Ser) c.2068C>T (p.Pro690Ser) n.2219C>T c.2065C>T (p.Pro689Ser) c.2239C>T (p.Pro747Ser) | dbSNP |
| 7 | g.41967785G>C | CA367321497 | GLI3 | c.2242C>G (p.Pro748Ala) c.2068C>G (p.Pro690Ala) n.2219C>G c.2065C>G (p.Pro689Ala) c.2239C>G (p.Pro747Ala) | dbSNP |
| 7 | g.41967785G= | CA1702661922 | GLI3 | c.2242C= (p.Pro748=) c.2068C= (p.Pro690=) n.2219C= c.2065C= (p.Pro689=) c.2239C= (p.Pro747=) | |
| 7 | g.41967785G>T | CA367321498 | GLI3 | c.2242C>A (p.Pro748Thr) c.2068C>A (p.Pro690Thr) n.2219C>A c.2065C>A (p.Pro689Thr) c.2239C>A (p.Pro747Thr) | dbSNP |
| 7 | g.41967785_41967788delinsGGGT | CA1702661921 | GLI3 | c.2239_2242delinsACCC (p.Thr747=) c.2065_2068delinsACCC (p.Thr689=) n.2216_2219delinsACCC c.2062_2065delinsACCC (p.Thr688=) c.2236_2239delinsACCC (p.Thr746=) | |
| 7 | g.41967786G>A | CA454663467 | GLI3 | c.2241C>T (p.Thr747=) c.2067C>T (p.Thr689=) n.2218C>T c.2064C>T (p.Thr688=) c.2238C>T (p.Thr746=) | dbSNP gnomAD v4 |
| 7 | g.41967786G>C | CA454663468 | GLI3 | c.2241C>G (p.Thr747=) c.2067C>G (p.Thr689=) n.2218C>G c.2064C>G (p.Thr688=) c.2238C>G (p.Thr746=) | dbSNP |
| 7 | g.41967786G>T | CA454663469 | GLI3 | c.2241C>A (p.Thr747=) c.2067C>A (p.Thr689=) n.2218C>A c.2064C>A (p.Thr688=) c.2238C>A (p.Thr746=) | gnomAD v4 |
| 7 | g.41967786_41967788del | CA4230655 | GLI3 | c.2239_2241del (p.Thr747del) c.2065_2067del (p.Thr689del) n.2216_2218del c.2062_2064del (p.Thr688del) c.2236_2238del (p.Thr746del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.41967787G>A | CA367321501 | GLI3 | c.2240C>T (p.Thr747Ile) c.2066C>T (p.Thr689Ile) n.2217C>T c.2063C>T (p.Thr688Ile) c.2237C>T (p.Thr746Ile) | dbSNP gnomAD v4 |
| 7 | g.41967787G>C | CA367321500 | GLI3 | c.2240C>G (p.Thr747Ser) c.2066C>G (p.Thr689Ser) n.2217C>G c.2063C>G (p.Thr688Ser) c.2237C>G (p.Thr746Ser) | dbSNP |
| 7 | g.41967787G= | CA1702661923 | GLI3 | c.2240C= (p.Thr747=) c.2066C= (p.Thr689=) n.2217C= c.2063C= (p.Thr688=) c.2237C= (p.Thr746=) | |
| 7 | g.41967787G>T | CA367321499 | GLI3 | c.2240C>A (p.Thr747Asn) c.2066C>A (p.Thr689Asn) n.2217C>A c.2063C>A (p.Thr688Asn) c.2237C>A (p.Thr746Asn) | dbSNP gnomAD v4 |
| 7 | g.41967788T>A | CA367321502 | GLI3 | c.2239A>T (p.Thr747Ser) c.2065A>T (p.Thr689Ser) n.2216A>T c.2062A>T (p.Thr688Ser) c.2236A>T (p.Thr746Ser) | dbSNP |
| 7 | g.41967788T>C | CA367321503 | GLI3 | c.2239A>G (p.Thr747Ala) c.2065A>G (p.Thr689Ala) n.2216A>G c.2062A>G (p.Thr688Ala) c.2236A>G (p.Thr746Ala) | |
| 7 | g.41967788T>G | CA367321504 | GLI3 | c.2239A>C (p.Thr747Pro) c.2065A>C (p.Thr689Pro) n.2216A>C c.2062A>C (p.Thr688Pro) c.2236A>C (p.Thr746Pro) | dbSNP |
| 7 | g.41967788T= | CA1702661924 | GLI3 | c.2239A= (p.Thr747=) c.2065A= (p.Thr689=) n.2216A= c.2062A= (p.Thr688=) c.2236A= (p.Thr746=) | |
| 7 | g.41967789T>A | CA4230656 | GLI3 | c.2238A>T (p.Glu746Asp) c.2064A>T (p.Glu688Asp) n.2215A>T c.2061A>T (p.Glu687Asp) c.2235A>T (p.Glu745Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967789T>C | CA454663470 | GLI3 | c.2238A>G (p.Glu746=) c.2064A>G (p.Glu688=) n.2215A>G c.2061A>G (p.Glu687=) c.2235A>G (p.Glu745=) | |
| 7 | g.41967789T>G | CA367321505 | GLI3 | c.2238A>C (p.Glu746Asp) c.2064A>C (p.Glu688Asp) n.2215A>C c.2061A>C (p.Glu687Asp) c.2235A>C (p.Glu745Asp) | dbSNP |
| 7 | g.41967789T= | CA1702661925 | GLI3 | c.2238A= (p.Glu746=) c.2064A= (p.Glu688=) n.2215A= c.2061A= (p.Glu687=) c.2235A= (p.Glu745=) | |
| 7 | g.41967790T>A | CA367321506 | GLI3 | c.2237A>T (p.Glu746Val) c.2063A>T (p.Glu688Val) n.2214A>T c.2060A>T (p.Glu687Val) c.2234A>T (p.Glu745Val) | dbSNP |
| 7 | g.41967790T>C | CA367321507 | GLI3 | c.2237A>G (p.Glu746Gly) c.2063A>G (p.Glu688Gly) n.2214A>G c.2060A>G (p.Glu687Gly) c.2234A>G (p.Glu745Gly) | |
| 7 | g.41967790T>G | CA367321508 | GLI3 | c.2237A>C (p.Glu746Ala) c.2063A>C (p.Glu688Ala) n.2214A>C c.2060A>C (p.Glu687Ala) c.2234A>C (p.Glu745Ala) | |
| 7 | g.41967791C>A | CA367321509 | GLI3 | c.2236G>T (p.Glu746Ter) c.2062G>T (p.Glu688Ter) n.2213G>T c.2059G>T (p.Glu687Ter) c.2233G>T (p.Glu745Ter) | |
| 7 | g.41967791C>G | CA367321510 | GLI3 | c.2236G>C (p.Glu746Gln) c.2062G>C (p.Glu688Gln) n.2213G>C c.2059G>C (p.Glu687Gln) c.2233G>C (p.Glu745Gln) | dbSNP |
| 7 | g.41967791C>T | CA367321511 | GLI3 | c.2236G>A (p.Glu746Lys) c.2062G>A (p.Glu688Lys) n.2213G>A c.2059G>A (p.Glu687Lys) c.2233G>A (p.Glu745Lys) | |
| 7 | g.41967792A= | CA1702661926 | GLI3 | c.2235T= (p.Asp745=) c.2061T= (p.Asp687=) n.2212T= c.2058T= (p.Asp686=) c.2232T= (p.Asp744=) | |
| 7 | g.41967792A>C | CA367321512 | GLI3 | c.2235T>G (p.Asp745Glu) c.2061T>G (p.Asp687Glu) n.2212T>G c.2058T>G (p.Asp686Glu) c.2232T>G (p.Asp744Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967792A>G | CA454663472 | GLI3 | c.2235T>C (p.Asp745=) c.2061T>C (p.Asp687=) n.2212T>C c.2058T>C (p.Asp686=) c.2232T>C (p.Asp744=) | dbSNP |
| 7 | g.41967792A>T | CA367321513 | GLI3 | c.2235T>A (p.Asp745Glu) c.2061T>A (p.Asp687Glu) n.2212T>A c.2058T>A (p.Asp686Glu) c.2232T>A (p.Asp744Glu) | dbSNP |
| 7 | g.41967793T>A | CA367321515 | GLI3 | c.2234A>T (p.Asp745Val) c.2060A>T (p.Asp687Val) n.2211A>T c.2057A>T (p.Asp686Val) c.2231A>T (p.Asp744Val) | |
| 7 | g.41967793T>C | CA367321516 | GLI3 | c.2234A>G (p.Asp745Gly) c.2060A>G (p.Asp687Gly) n.2211A>G c.2057A>G (p.Asp686Gly) c.2231A>G (p.Asp744Gly) | |
| 7 | g.41967793T>G | CA367321514 | GLI3 | c.2234A>C (p.Asp745Ala) c.2060A>C (p.Asp687Ala) n.2211A>C c.2057A>C (p.Asp686Ala) c.2231A>C (p.Asp744Ala) | |
| 7 | g.41967794C>A | CA367321518 | GLI3 | c.2233G>T (p.Asp745Tyr) c.2059G>T (p.Asp687Tyr) n.2210G>T c.2056G>T (p.Asp686Tyr) c.2230G>T (p.Asp744Tyr) | dbSNP |
| 7 | g.41967794C= | CA1702661927 | GLI3 | c.2233G= (p.Asp745=) c.2059G= (p.Asp687=) n.2210G= c.2056G= (p.Asp686=) c.2230G= (p.Asp744=) | |
| 7 | g.41967794C>G | CA367321517 | GLI3 | c.2233G>C (p.Asp745His) c.2059G>C (p.Asp687His) n.2210G>C c.2056G>C (p.Asp686His) c.2230G>C (p.Asp744His) | dbSNP gnomAD v4 |
| 7 | g.41967794C>T | CA4230657 | GLI3 | c.2233G>A (p.Asp745Asn) c.2059G>A (p.Asp687Asn) n.2210G>A c.2056G>A (p.Asp686Asn) c.2230G>A (p.Asp744Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967795G>A | CA4230659 | GLI3 | c.2232C>T (p.Ile744=) c.2058C>T (p.Ile686=) n.2209C>T c.2055C>T (p.Ile685=) c.2229C>T (p.Ile743=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.41967795G>C | CA367321519 | GLI3 | c.2232C>G (p.Ile744Met) c.2058C>G (p.Ile686Met) n.2209C>G c.2055C>G (p.Ile685Met) c.2229C>G (p.Ile743Met) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41967795G= | CA1702661928 | GLI3 | c.2232C= (p.Ile744=) c.2058C= (p.Ile686=) n.2209C= c.2055C= (p.Ile685=) c.2229C= (p.Ile743=) | |
| 7 | g.41967795G>T | CA4230658 | GLI3 | c.2232C>A (p.Ile744=) c.2058C>A (p.Ile686=) n.2209C>A c.2055C>A (p.Ile685=) c.2229C>A (p.Ile743=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967796A>C | CA367321520 | GLI3 | c.2231T>G (p.Ile744Ser) c.2057T>G (p.Ile686Ser) n.2208T>G c.2054T>G (p.Ile685Ser) c.2228T>G (p.Ile743Ser) | |
| 7 | g.41967796A>G | CA367321521 | GLI3 | c.2231T>C (p.Ile744Thr) c.2057T>C (p.Ile686Thr) n.2208T>C c.2054T>C (p.Ile685Thr) c.2228T>C (p.Ile743Thr) | dbSNP |
| 7 | g.41967796A>T | CA367321522 | GLI3 | c.2231T>A (p.Ile744Asn) c.2057T>A (p.Ile686Asn) n.2208T>A c.2054T>A (p.Ile685Asn) c.2228T>A (p.Ile743Asn) | dbSNP |
| 7 | g.41967797T>A | CA367321523 | GLI3 | c.2230A>T (p.Ile744Phe) c.2056A>T (p.Ile686Phe) n.2207A>T c.2053A>T (p.Ile685Phe) c.2227A>T (p.Ile743Phe) | |
| 7 | g.41967797T>C | CA367321524 | GLI3 | c.2230A>G (p.Ile744Val) c.2056A>G (p.Ile686Val) n.2207A>G c.2053A>G (p.Ile685Val) c.2227A>G (p.Ile743Val) | gnomAD v4 |
| 7 | g.41967797T>G | CA367321525 | GLI3 | c.2230A>C (p.Ile744Leu) c.2056A>C (p.Ile686Leu) n.2207A>C c.2053A>C (p.Ile685Leu) c.2227A>C (p.Ile743Leu) | |
| 7 | g.41967798G>A | CA454663474 | GLI3 | c.2229C>T (p.Ala743=) c.2055C>T (p.Ala685=) n.2206C>T c.2052C>T (p.Ala684=) c.2226C>T (p.Ala742=) | dbSNP |
| 7 | g.41967798G>C | CA454663475 | GLI3 | c.2229C>G (p.Ala743=) c.2055C>G (p.Ala685=) n.2206C>G c.2052C>G (p.Ala684=) c.2226C>G (p.Ala742=) | dbSNP |
| 7 | g.41967798G>T | CA454663477 | GLI3 | c.2229C>A (p.Ala743=) c.2055C>A (p.Ala685=) n.2206C>A c.2052C>A (p.Ala684=) c.2226C>A (p.Ala742=) | gnomAD v4 |
| 7 | g.41967799del | CA2714408342 | GLI3 | c.2229del (p.Ile744SerfsTer?) c.2055del (p.Ile686SerfsTer?) n.2206del c.2052del (p.Ile685SerfsTer?) c.2226del (p.Ile743SerfsTer?) | dbSNP |
| 7 | g.41967799G>A | CA4230660 | GLI3 | c.2228C>T (p.Ala743Val) c.2054C>T (p.Ala685Val) n.2205C>T c.2051C>T (p.Ala684Val) c.2225C>T (p.Ala742Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41967799G>C | CA367321526 | GLI3 | c.2228C>G (p.Ala743Gly) c.2054C>G (p.Ala685Gly) n.2205C>G c.2051C>G (p.Ala684Gly) c.2225C>G (p.Ala742Gly) | dbSNP |
| 7 | g.41967799G= | CA1702661929 | GLI3 | c.2228C= (p.Ala743=) c.2054C= (p.Ala685=) n.2205C= c.2051C= (p.Ala684=) c.2225C= (p.Ala742=) | |
| 7 | g.41967799G>T | CA367321527 | GLI3 | c.2228C>A (p.Ala743Asp) c.2054C>A (p.Ala685Asp) n.2205C>A c.2051C>A (p.Ala684Asp) c.2225C>A (p.Ala742Asp) | dbSNP |
| 7 | g.41967800C>A | CA367321529 | GLI3 | c.2227G>T (p.Ala743Ser) c.2053G>T (p.Ala685Ser) n.2204G>T c.2050G>T (p.Ala684Ser) c.2224G>T (p.Ala742Ser) | |
| 7 | g.41967800C>G | CA367321530 | GLI3 | c.2227G>C (p.Ala743Pro) c.2053G>C (p.Ala685Pro) n.2204G>C c.2050G>C (p.Ala684Pro) c.2224G>C (p.Ala742Pro) | dbSNP |
| 7 | g.41967800C>T | CA367321528 | GLI3 | c.2227G>A (p.Ala743Thr) c.2053G>A (p.Ala685Thr) n.2204G>A c.2050G>A (p.Ala684Thr) c.2224G>A (p.Ala742Thr) | dbSNP |
| 7 | g.41967801A>C | CA367321531 | GLI3 | c.2226T>G (p.Ser742Arg) c.2052T>G (p.Ser684Arg) n.2203T>G c.2049T>G (p.Ser683Arg) c.2223T>G (p.Ser741Arg) | |
| 7 | g.41967801A>G | CA454663480 | GLI3 | c.2226T>C (p.Ser742=) c.2052T>C (p.Ser684=) n.2203T>C c.2049T>C (p.Ser683=) c.2223T>C (p.Ser741=) | |
| 7 | g.41967801A>T | CA367321532 | GLI3 | c.2226T>A (p.Ser742Arg) c.2052T>A (p.Ser684Arg) n.2203T>A c.2049T>A (p.Ser683Arg) c.2223T>A (p.Ser741Arg) | dbSNP |
| 7 | g.41967802C>A | CA367321533 | GLI3 | c.2225G>T (p.Ser742Ile) c.2051G>T (p.Ser684Ile) n.2202G>T c.2048G>T (p.Ser683Ile) c.2222G>T (p.Ser741Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41967802C= | CA1702661930 | GLI3 | c.2225G= (p.Ser742=) c.2051G= (p.Ser684=) n.2202G= c.2048G= (p.Ser683=) c.2222G= (p.Ser741=) | |
| 7 | g.41967802C>G | CA4230661 | GLI3 | c.2225G>C (p.Ser742Thr) c.2051G>C (p.Ser684Thr) n.2202G>C c.2048G>C (p.Ser683Thr) c.2222G>C (p.Ser741Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967802C>T | CA367321534 | GLI3 | c.2225G>A (p.Ser742Asn) c.2051G>A (p.Ser684Asn) n.2202G>A c.2048G>A (p.Ser683Asn) c.2222G>A (p.Ser741Asn) | dbSNP |
| 7 | g.41967803T>A | CA367321537 | GLI3 | c.2224A>T (p.Ser742Cys) c.2050A>T (p.Ser684Cys) n.2201A>T c.2047A>T (p.Ser683Cys) c.2221A>T (p.Ser741Cys) | dbSNP |
| 7 | g.41967803T>C | CA367321535 | GLI3 | c.2224A>G (p.Ser742Gly) c.2050A>G (p.Ser684Gly) n.2201A>G c.2047A>G (p.Ser683Gly) c.2221A>G (p.Ser741Gly) | gnomAD v4 |
| 7 | g.41967803T>G | CA367321536 | GLI3 | c.2224A>C (p.Ser742Arg) c.2050A>C (p.Ser684Arg) n.2201A>C c.2047A>C (p.Ser683Arg) c.2221A>C (p.Ser741Arg) | |
| 7 | g.41967804G>A | CA454663482 | GLI3 | c.2223C>T (p.Leu741=) c.2049C>T (p.Leu683=) n.2200C>T c.2046C>T (p.Leu682=) c.2220C>T (p.Leu740=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41967804G>C | CA454663483 | GLI3 | c.2223C>G (p.Leu741=) c.2049C>G (p.Leu683=) n.2200C>G c.2046C>G (p.Leu682=) c.2220C>G (p.Leu740=) | dbSNP |
| 7 | g.41967804G= | CA1702661931 | GLI3 | c.2223C= (p.Leu741=) c.2049C= (p.Leu683=) n.2200C= c.2046C= (p.Leu682=) c.2220C= (p.Leu740=) | |
| 7 | g.41967804G>T | CA454663484 | GLI3 | c.2223C>A (p.Leu741=) c.2049C>A (p.Leu683=) n.2200C>A c.2046C>A (p.Leu682=) c.2220C>A (p.Leu740=) | |
| 7 | g.41967805A>C | CA367321538 | GLI3 | c.2222T>G (p.Leu741Arg) c.2048T>G (p.Leu683Arg) n.2199T>G c.2045T>G (p.Leu682Arg) c.2219T>G (p.Leu740Arg) | |
| 7 | g.41967805A>G | CA367321539 | GLI3 | c.2222T>C (p.Leu741Pro) c.2048T>C (p.Leu683Pro) n.2199T>C c.2045T>C (p.Leu682Pro) c.2219T>C (p.Leu740Pro) | dbSNP |
| 7 | g.41967805A>T | CA367321540 | GLI3 | c.2222T>A (p.Leu741His) c.2048T>A (p.Leu683His) n.2199T>A c.2045T>A (p.Leu682His) c.2219T>A (p.Leu740His) | dbSNP |
| 7 | g.41967806G>A | CA367321541 | GLI3 | c.2221C>T (p.Leu741Phe) c.2047C>T (p.Leu683Phe) n.2198C>T c.2044C>T (p.Leu682Phe) c.2218C>T (p.Leu740Phe) | dbSNP |
| 7 | g.41967806G>C | CA367321542 | GLI3 | c.2221C>G (p.Leu741Val) c.2047C>G (p.Leu683Val) n.2198C>G c.2044C>G (p.Leu682Val) c.2218C>G (p.Leu740Val) | |
| 7 | g.41967806G>T | CA367321543 | GLI3 | c.2221C>A (p.Leu741Ile) c.2047C>A (p.Leu683Ile) n.2198C>A c.2044C>A (p.Leu682Ile) c.2218C>A (p.Leu740Ile) | |
| 7 | g.41967807G>A | CA454663486 | GLI3 | c.2220C>T (p.Asp740=) c.2046C>T (p.Asp682=) n.2197C>T c.2043C>T (p.Asp681=) c.2217C>T (p.Asp739=) | dbSNP |
| 7 | g.41967807G>C | CA367321544 | GLI3 | c.2220C>G (p.Asp740Glu) c.2046C>G (p.Asp682Glu) n.2197C>G c.2043C>G (p.Asp681Glu) c.2217C>G (p.Asp739Glu) | dbSNP |
| 7 | g.41967807G= | CA1702661932 | GLI3 | c.2220C= (p.Asp740=) c.2046C= (p.Asp682=) n.2197C= c.2043C= (p.Asp681=) c.2217C= (p.Asp739=) | |
| 7 | g.41967807G>T | CA367321545 | GLI3 | c.2220C>A (p.Asp740Glu) c.2046C>A (p.Asp682Glu) n.2197C>A c.2043C>A (p.Asp681Glu) c.2217C>A (p.Asp739Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41967808T>A | CA367321546 | GLI3 | c.2219A>T (p.Asp740Val) c.2045A>T (p.Asp682Val) n.2196A>T c.2042A>T (p.Asp681Val) c.2216A>T (p.Asp739Val) | dbSNP |
| 7 | g.41967808T>C | CA367321547 | GLI3 | c.2219A>G (p.Asp740Gly) c.2045A>G (p.Asp682Gly) n.2196A>G c.2042A>G (p.Asp681Gly) c.2216A>G (p.Asp739Gly) | dbSNP |
| 7 | g.41967808T>G | CA367321548 | GLI3 | c.2219A>C (p.Asp740Ala) c.2045A>C (p.Asp682Ala) n.2196A>C c.2042A>C (p.Asp681Ala) c.2216A>C (p.Asp739Ala) | |
| 7 | g.41967809C>A | CA367321549 | GLI3 | c.2218G>T (p.Asp740Tyr) c.2044G>T (p.Asp682Tyr) n.2195G>T c.2041G>T (p.Asp681Tyr) c.2215G>T (p.Asp739Tyr) | dbSNP |
| 7 | g.41967809C>G | CA367321550 | GLI3 | c.2218G>C (p.Asp740His) c.2044G>C (p.Asp682His) n.2195G>C c.2041G>C (p.Asp681His) c.2215G>C (p.Asp739His) | dbSNP |
| 7 | g.41967809C>T | CA367321551 | GLI3 | c.2218G>A (p.Asp740Asn) c.2044G>A (p.Asp682Asn) n.2195G>A c.2041G>A (p.Asp681Asn) c.2215G>A (p.Asp739Asn) | dbSNP |
| 7 | g.41967810T>A | CA454663491 | GLI3 | c.2217A>T (p.Gly739=) c.2043A>T (p.Gly681=) n.2194A>T c.2040A>T (p.Gly680=) c.2214A>T (p.Gly738=) | dbSNP |
| 7 | g.41967810T>C | CA454663490 | GLI3 | c.2217A>G (p.Gly739=) c.2043A>G (p.Gly681=) n.2194A>G c.2040A>G (p.Gly680=) c.2214A>G (p.Gly738=) | |
| 7 | g.41967810T>G | CA454663489 | GLI3 | c.2217A>C (p.Gly739=) c.2043A>C (p.Gly681=) n.2194A>C c.2040A>C (p.Gly680=) c.2214A>C (p.Gly738=) | |
| 7 | g.41967811C>A | CA367321552 | GLI3 | c.2216G>T (p.Gly739Val) c.2042G>T (p.Gly681Val) n.2193G>T c.2039G>T (p.Gly680Val) c.2213G>T (p.Gly738Val) | |
| 7 | g.41967811C>G | CA367321553 | GLI3 | c.2216G>C (p.Gly739Ala) c.2042G>C (p.Gly681Ala) n.2193G>C c.2039G>C (p.Gly680Ala) c.2213G>C (p.Gly738Ala) | |
| 7 | g.41967811C>T | CA367321554 | GLI3 | c.2216G>A (p.Gly739Glu) c.2042G>A (p.Gly681Glu) n.2193G>A c.2039G>A (p.Gly680Glu) c.2213G>A (p.Gly738Glu) | |
| 7 | g.41967812C>A | CA367321555 | GLI3 | c.2215G>T (p.Gly739Ter) c.2041G>T (p.Gly681Ter) n.2192G>T c.2038G>T (p.Gly680Ter) c.2212G>T (p.Gly738Ter) | dbSNP |
| 7 | g.41967812C>G | CA367321556 | GLI3 | c.2215G>C (p.Gly739Arg) c.2041G>C (p.Gly681Arg) n.2192G>C c.2038G>C (p.Gly680Arg) c.2212G>C (p.Gly738Arg) | dbSNP |
| 7 | g.41967812C>T | CA367321557 | GLI3 | c.2215G>A (p.Gly739Arg) c.2041G>A (p.Gly681Arg) n.2192G>A c.2038G>A (p.Gly680Arg) c.2212G>A (p.Gly738Arg) | dbSNP |
| 7 | g.41967813T>A | CA454663497 | GLI3 | c.2214A>T (p.Ile738=) c.2040A>T (p.Ile680=) n.2191A>T c.2037A>T (p.Ile679=) c.2211A>T (p.Ile737=) | |
| 7 | g.41967813T>C | CA367321558 | GLI3 | c.2214A>G (p.Ile738Met) c.2040A>G (p.Ile680Met) n.2191A>G c.2037A>G (p.Ile679Met) c.2211A>G (p.Ile737Met) | |
| 7 | g.41967813T>G | CA454663494 | GLI3 | c.2214A>C (p.Ile738=) c.2040A>C (p.Ile680=) n.2191A>C c.2037A>C (p.Ile679=) c.2211A>C (p.Ile737=) | |
| 7 | g.41967814A= | CA1702661933 | GLI3 | c.2213T= (p.Ile738=) c.2039T= (p.Ile680=) n.2190T= c.2036T= (p.Ile679=) c.2210T= (p.Ile737=) | |
| 7 | g.41967814A>C | CA367321561 | GLI3 | c.2213T>G (p.Ile738Arg) c.2039T>G (p.Ile680Arg) n.2190T>G c.2036T>G (p.Ile679Arg) c.2210T>G (p.Ile737Arg) | |
| 7 | g.41967814A>G | CA367321559 | GLI3 | c.2213T>C (p.Ile738Thr) c.2039T>C (p.Ile680Thr) n.2190T>C c.2036T>C (p.Ile679Thr) c.2210T>C (p.Ile737Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41967814A>T | CA367321560 | GLI3 | c.2213T>A (p.Ile738Lys) c.2039T>A (p.Ile680Lys) n.2190T>A c.2036T>A (p.Ile679Lys) c.2210T>A (p.Ile737Lys) | |
| 7 | g.41967815T>A | CA367321562 | GLI3 | c.2212A>T (p.Ile738Leu) c.2038A>T (p.Ile680Leu) n.2189A>T c.2035A>T (p.Ile679Leu) c.2209A>T (p.Ile737Leu) | dbSNP |
| 7 | g.41967815T>C | CA367321563 | GLI3 | c.2212A>G (p.Ile738Val) c.2038A>G (p.Ile680Val) n.2189A>G c.2035A>G (p.Ile679Val) c.2209A>G (p.Ile737Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.41967815T>G | CA367321564 | GLI3 | c.2212A>C (p.Ile738Leu) c.2038A>C (p.Ile680Leu) n.2189A>C c.2035A>C (p.Ile679Leu) c.2209A>C (p.Ile737Leu) | |
| 7 | g.41967815T= | CA1702661934 | GLI3 | c.2212A= (p.Ile738=) c.2038A= (p.Ile680=) n.2189A= c.2035A= (p.Ile679=) c.2209A= (p.Ile737=) | |
| 7 | g.41967816del | CA2695207643 | GLI3 | c.2211del (p.Ser737ArgfsTer2) c.2037del (p.Ser679ArgfsTer2) n.2188del c.2034del (p.Ser678ArgfsTer2) c.2208del (p.Ser736ArgfsTer2) | |
| 7 | g.41967816A>C | CA367321565 | GLI3 | c.2211T>G (p.Ser737Arg) c.2037T>G (p.Ser679Arg) n.2188T>G c.2034T>G (p.Ser678Arg) c.2208T>G (p.Ser736Arg) | dbSNP |
| 7 | g.41967816A>G | CA454663501 | GLI3 | c.2211T>C (p.Ser737=) c.2037T>C (p.Ser679=) n.2188T>C c.2034T>C (p.Ser678=) c.2208T>C (p.Ser736=) | |
| 7 | g.41967816A>T | CA367321566 | GLI3 | c.2211T>A (p.Ser737Arg) c.2037T>A (p.Ser679Arg) n.2188T>A c.2034T>A (p.Ser678Arg) c.2208T>A (p.Ser736Arg) | |
| 7 | g.41967817C>A | CA367321567 | GLI3 | c.2210G>T (p.Ser737Ile) c.2036G>T (p.Ser679Ile) n.2187G>T c.2033G>T (p.Ser678Ile) c.2207G>T (p.Ser736Ile) | dbSNP |
| 7 | g.41967817C= | CA1702661935 | GLI3 | c.2210G= (p.Ser737=) c.2036G= (p.Ser679=) n.2187G= c.2033G= (p.Ser678=) c.2207G= (p.Ser736=) | |
| 7 | g.41967817C>G | CA367321568 | GLI3 | c.2210G>C (p.Ser737Thr) c.2036G>C (p.Ser679Thr) n.2187G>C c.2033G>C (p.Ser678Thr) c.2207G>C (p.Ser736Thr) | dbSNP |
| 7 | g.41967817C>T | CA156909352 | GLI3 | c.2210G>A (p.Ser737Asn) c.2036G>A (p.Ser679Asn) n.2187G>A c.2033G>A (p.Ser678Asn) c.2207G>A (p.Ser736Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967818T>A | CA367321569 | GLI3 | c.2209A>T (p.Ser737Cys) c.2035A>T (p.Ser679Cys) n.2186A>T c.2032A>T (p.Ser678Cys) c.2206A>T (p.Ser736Cys) | |
| 7 | g.41967818T>C | CA367321570 | GLI3 | c.2209A>G (p.Ser737Gly) c.2035A>G (p.Ser679Gly) n.2186A>G c.2032A>G (p.Ser678Gly) c.2206A>G (p.Ser736Gly) | |
| 7 | g.41967818T>G | CA367321571 | GLI3 | c.2209A>C (p.Ser737Arg) c.2035A>C (p.Ser679Arg) n.2186A>C c.2032A>C (p.Ser678Arg) c.2206A>C (p.Ser736Arg) |