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.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.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.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 |
| 7 | g.41967689G>T | CA367321295 | GLI3 | c.2338C>A (p.Leu780Ile) c.2164C>A (p.Leu722Ile) n.2315C>A c.2161C>A (p.Leu721Ile) c.2335C>A (p.Leu779Ile) | dbSNP |
| 7 | g.41967690T>A | CA367321296 | GLI3 | c.2337A>T (p.Lys779Asn) c.2163A>T (p.Lys721Asn) n.2314A>T c.2160A>T (p.Lys720Asn) c.2334A>T (p.Lys778Asn) | dbSNP |
| 7 | g.41967690T>C | CA454663378 | GLI3 | c.2337A>G (p.Lys779=) c.2163A>G (p.Lys721=) n.2314A>G c.2160A>G (p.Lys720=) c.2334A>G (p.Lys778=) | |
| 7 | g.41967690T>G | CA367321297 | GLI3 | c.2337A>C (p.Lys779Asn) c.2163A>C (p.Lys721Asn) n.2314A>C c.2160A>C (p.Lys720Asn) c.2334A>C (p.Lys778Asn) | |
| 7 | g.41967691T>A | CA367321298 | GLI3 | c.2336A>T (p.Lys779Ile) c.2162A>T (p.Lys721Ile) n.2313A>T c.2159A>T (p.Lys720Ile) c.2333A>T (p.Lys778Ile) | dbSNP |
| 7 | g.41967691T>C | CA367321299 | GLI3 | c.2336A>G (p.Lys779Arg) c.2162A>G (p.Lys721Arg) n.2313A>G c.2159A>G (p.Lys720Arg) c.2333A>G (p.Lys778Arg) | |
| 7 | g.41967691T>G | CA367321300 | GLI3 | c.2336A>C (p.Lys779Thr) c.2162A>C (p.Lys721Thr) n.2313A>C c.2159A>C (p.Lys720Thr) c.2333A>C (p.Lys778Thr) | dbSNP |
| 7 | g.41967692T>A | CA367321301 | GLI3 | c.2335A>T (p.Lys779Ter) c.2161A>T (p.Lys721Ter) n.2312A>T c.2158A>T (p.Lys720Ter) c.2332A>T (p.Lys778Ter) | |
| 7 | g.41967692T>C | CA367321302 | GLI3 | c.2335A>G (p.Lys779Glu) c.2161A>G (p.Lys721Glu) n.2312A>G c.2158A>G (p.Lys720Glu) c.2332A>G (p.Lys778Glu) | |
| 7 | g.41967692T>G | CA367321303 | GLI3 | c.2335A>C (p.Lys779Gln) c.2161A>C (p.Lys721Gln) n.2312A>C c.2158A>C (p.Lys720Gln) c.2332A>C (p.Lys778Gln) | dbSNP |
| 7 | g.41967693T>A | CA454663385 | GLI3 | c.2334A>T (p.Val778=) c.2160A>T (p.Val720=) n.2311A>T c.2157A>T (p.Val719=) c.2331A>T (p.Val777=) | |
| 7 | g.41967693T>C | CA454663386 | GLI3 | c.2334A>G (p.Val778=) c.2160A>G (p.Val720=) n.2311A>G c.2157A>G (p.Val719=) c.2331A>G (p.Val777=) | dbSNP |
| 7 | g.41967693T>G | CA454663384 | GLI3 | c.2334A>C (p.Val778=) c.2160A>C (p.Val720=) n.2311A>C c.2157A>C (p.Val719=) c.2331A>C (p.Val777=) | |
| 7 | g.41967694A= | CA1702661881 | GLI3 | c.2333T= (p.Val778=) c.2159T= (p.Val720=) n.2310T= c.2156T= (p.Val719=) c.2330T= (p.Val777=) | |
| 7 | g.41967694A>C | CA367321304 | GLI3 | c.2333T>G (p.Val778Gly) c.2159T>G (p.Val720Gly) n.2310T>G c.2156T>G (p.Val719Gly) c.2330T>G (p.Val777Gly) | dbSNP |
| 7 | g.41967694A>G | CA4230638 | GLI3 | c.2333T>C (p.Val778Ala) c.2159T>C (p.Val720Ala) n.2310T>C c.2156T>C (p.Val719Ala) c.2330T>C (p.Val777Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967694A>T | CA367321305 | GLI3 | c.2333T>A (p.Val778Glu) c.2159T>A (p.Val720Glu) n.2310T>A c.2156T>A (p.Val719Glu) c.2330T>A (p.Val777Glu) | dbSNP |
| 7 | g.41967695C>A | CA367321307 | GLI3 | c.2332G>T (p.Val778Leu) c.2158G>T (p.Val720Leu) n.2309G>T c.2155G>T (p.Val719Leu) c.2329G>T (p.Val777Leu) | dbSNP |
| 7 | g.41967695C= | CA1702661882 | GLI3 | c.2332G= (p.Val778=) c.2158G= (p.Val720=) n.2309G= c.2155G= (p.Val719=) c.2329G= (p.Val777=) | |
| 7 | g.41967695C>G | CA367321306 | GLI3 | c.2332G>C (p.Val778Leu) c.2158G>C (p.Val720Leu) n.2309G>C c.2155G>C (p.Val719Leu) c.2329G>C (p.Val777Leu) | dbSNP |
| 7 | g.41967695C>T | CA4230639 | GLI3 | c.2332G>A (p.Val778Ile) c.2158G>A (p.Val720Ile) n.2309G>A c.2155G>A (p.Val719Ile) c.2329G>A (p.Val777Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967696G>A | CA16605109 | GLI3 | c.2331C>T (p.His777=) c.2157C>T (p.His719=) n.2308C>T c.2154C>T (p.His718=) c.2328C>T (p.His776=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967696G>C | CA367321308 | GLI3 | c.2331C>G (p.His777Gln) c.2157C>G (p.His719Gln) n.2308C>G c.2154C>G (p.His718Gln) c.2328C>G (p.His776Gln) | |
| 7 | g.41967696G= | CA1702661883 | GLI3 | c.2331C= (p.His777=) c.2157C= (p.His719=) n.2308C= c.2154C= (p.His718=) c.2328C= (p.His776=) | |
| 7 | g.41967696G>T | CA367321309 | GLI3 | c.2331C>A (p.His777Gln) c.2157C>A (p.His719Gln) n.2308C>A c.2154C>A (p.His718Gln) c.2328C>A (p.His776Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967697T>A | CA367321310 | GLI3 | c.2330A>T (p.His777Leu) c.2156A>T (p.His719Leu) n.2307A>T c.2153A>T (p.His718Leu) c.2327A>T (p.His776Leu) | dbSNP |
| 7 | g.41967697T>C | CA367321311 | GLI3 | c.2330A>G (p.His777Arg) c.2156A>G (p.His719Arg) n.2307A>G c.2153A>G (p.His718Arg) c.2327A>G (p.His776Arg) | dbSNP COSMIC |
| 7 | g.41967697T>G | CA367321312 | GLI3 | c.2330A>C (p.His777Pro) c.2156A>C (p.His719Pro) n.2307A>C c.2153A>C (p.His718Pro) c.2327A>C (p.His776Pro) | dbSNP |
| 7 | g.41967698G>A | CA4230640 | GLI3 | c.2329C>T (p.His777Tyr) c.2155C>T (p.His719Tyr) n.2306C>T c.2152C>T (p.His718Tyr) c.2326C>T (p.His776Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967698G>C | CA367321313 | GLI3 | c.2329C>G (p.His777Asp) c.2155C>G (p.His719Asp) n.2306C>G c.2152C>G (p.His718Asp) c.2326C>G (p.His776Asp) | dbSNP COSMIC |
| 7 | g.41967698G= | CA1702661884 | GLI3 | c.2329C= (p.His777=) c.2155C= (p.His719=) n.2306C= c.2152C= (p.His718=) c.2326C= (p.His776=) | |
| 7 | g.41967698G>T | CA367321314 | GLI3 | c.2329C>A (p.His777Asn) c.2155C>A (p.His719Asn) n.2306C>A c.2152C>A (p.His718Asn) c.2326C>A (p.His776Asn) | dbSNP |
| 7 | g.41967699C>A | CA367321315 | GLI3 | c.2328G>T (p.Glu776Asp) c.2154G>T (p.Glu718Asp) n.2305G>T c.2151G>T (p.Glu717Asp) c.2325G>T (p.Glu775Asp) | dbSNP |
| 7 | g.41967699C= | CA1702661885 | GLI3 | c.2328G= (p.Glu776=) c.2154G= (p.Glu718=) n.2305G= c.2151G= (p.Glu717=) c.2325G= (p.Glu775=) | |
| 7 | g.41967699C>G | CA367321316 | GLI3 | c.2328G>C (p.Glu776Asp) c.2154G>C (p.Glu718Asp) n.2305G>C c.2151G>C (p.Glu717Asp) c.2325G>C (p.Glu775Asp) | dbSNP |
| 7 | g.41967699C>T | CA156909198 | GLI3 | c.2328G>A (p.Glu776=) c.2154G>A (p.Glu718=) n.2305G>A c.2151G>A (p.Glu717=) c.2325G>A (p.Glu775=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967700T>A | CA367321318 | GLI3 | c.2327A>T (p.Glu776Val) c.2153A>T (p.Glu718Val) n.2304A>T c.2150A>T (p.Glu717Val) c.2324A>T (p.Glu775Val) | |
| 7 | g.41967700T>C | CA367321319 | GLI3 | c.2327A>G (p.Glu776Gly) c.2153A>G (p.Glu718Gly) n.2304A>G c.2150A>G (p.Glu717Gly) c.2324A>G (p.Glu775Gly) | dbSNP |
| 7 | g.41967700T>G | CA367321317 | GLI3 | c.2327A>C (p.Glu776Ala) c.2153A>C (p.Glu718Ala) n.2304A>C c.2150A>C (p.Glu717Ala) c.2324A>C (p.Glu775Ala) | |
| 7 | g.41967701C>A | CA367321320 | GLI3 | c.2326G>T (p.Glu776Ter) c.2152G>T (p.Glu718Ter) n.2303G>T c.2149G>T (p.Glu717Ter) c.2323G>T (p.Glu775Ter) | dbSNP |
| 7 | g.41967701C= | CA1702661886 | GLI3 | c.2326G= (p.Glu776=) c.2152G= (p.Glu718=) n.2303G= c.2149G= (p.Glu717=) c.2323G= (p.Glu775=) | |
| 7 | g.41967701C>G | CA367321321 | GLI3 | c.2326G>C (p.Glu776Gln) c.2152G>C (p.Glu718Gln) n.2303G>C c.2149G>C (p.Glu717Gln) c.2323G>C (p.Glu775Gln) | dbSNP |
| 7 | g.41967701C>T | CA156909199 | GLI3 | c.2326G>A (p.Glu776Lys) c.2152G>A (p.Glu718Lys) n.2303G>A c.2149G>A (p.Glu717Lys) c.2323G>A (p.Glu775Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41967702C>A | CA367321322 | GLI3 | c.2325G>T (p.Met775Ile) c.2151G>T (p.Met717Ile) n.2302G>T c.2148G>T (p.Met716Ile) c.2322G>T (p.Met774Ile) | |
| 7 | g.41967702C= | CA1702661887 | GLI3 | c.2325G= (p.Met775=) c.2151G= (p.Met717=) n.2302G= c.2148G= (p.Met716=) c.2322G= (p.Met774=) | |
| 7 | g.41967702C>G | CA367321323 | GLI3 | c.2325G>C (p.Met775Ile) c.2151G>C (p.Met717Ile) n.2302G>C c.2148G>C (p.Met716Ile) c.2322G>C (p.Met774Ile) | |
| 7 | g.41967702C>T | CA367321324 | GLI3 | c.2325G>A (p.Met775Ile) c.2151G>A (p.Met717Ile) n.2302G>A c.2148G>A (p.Met716Ile) c.2322G>A (p.Met774Ile) | dbSNP gnomAD v4 |
| 7 | g.41967703A>C | CA367321325 | GLI3 | c.2324T>G (p.Met775Arg) c.2150T>G (p.Met717Arg) n.2301T>G c.2147T>G (p.Met716Arg) c.2321T>G (p.Met774Arg) | dbSNP gnomAD v4 |
| 7 | g.41967703A>G | CA367321326 | GLI3 | c.2324T>C (p.Met775Thr) c.2150T>C (p.Met717Thr) n.2301T>C c.2147T>C (p.Met716Thr) c.2321T>C (p.Met774Thr) | |
| 7 | g.41967703A>T | CA367321327 | GLI3 | c.2324T>A (p.Met775Lys) c.2150T>A (p.Met717Lys) n.2301T>A c.2147T>A (p.Met716Lys) c.2321T>A (p.Met774Lys) | dbSNP |
| 7 | g.41967704T>A | CA367321328 | GLI3 | c.2323A>T (p.Met775Leu) c.2149A>T (p.Met717Leu) n.2300A>T c.2146A>T (p.Met716Leu) c.2320A>T (p.Met774Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967704T>C | CA367321329 | GLI3 | c.2323A>G (p.Met775Val) c.2149A>G (p.Met717Val) n.2300A>G c.2146A>G (p.Met716Val) c.2320A>G (p.Met774Val) | dbSNP |
| 7 | g.41967704T>G | CA367321330 | GLI3 | c.2323A>C (p.Met775Leu) c.2149A>C (p.Met717Leu) n.2300A>C c.2146A>C (p.Met716Leu) c.2320A>C (p.Met774Leu) | |
| 7 | g.41967704T= | CA1702661888 | GLI3 | c.2323A= (p.Met775=) c.2149A= (p.Met717=) n.2300A= c.2146A= (p.Met716=) c.2320A= (p.Met774=) | |
| 7 | g.41967705C>A | CA367321333 | GLI3 | c.2322G>T (p.Trp774Cys) c.2148G>T (p.Trp716Cys) n.2299G>T c.2145G>T (p.Trp715Cys) c.2319G>T (p.Trp773Cys) | |
| 7 | g.41967705C>G | CA367321331 | GLI3 | c.2322G>C (p.Trp774Cys) c.2148G>C (p.Trp716Cys) n.2299G>C c.2145G>C (p.Trp715Cys) c.2319G>C (p.Trp773Cys) | dbSNP |
| 7 | g.41967705C>T | CA367321332 | GLI3 | c.2322G>A (p.Trp774Ter) c.2148G>A (p.Trp716Ter) n.2299G>A c.2145G>A (p.Trp715Ter) c.2319G>A (p.Trp773Ter) | dbSNP |
| 7 | g.41967706C>A | CA367321334 | GLI3 | c.2321G>T (p.Trp774Leu) c.2147G>T (p.Trp716Leu) n.2298G>T c.2144G>T (p.Trp715Leu) c.2318G>T (p.Trp773Leu) | dbSNP |
| 7 | g.41967706C>G | CA367321335 | GLI3 | c.2321G>C (p.Trp774Ser) c.2147G>C (p.Trp716Ser) n.2298G>C c.2144G>C (p.Trp715Ser) c.2318G>C (p.Trp773Ser) | dbSNP |
| 7 | g.41967706C>T | CA367321336 | GLI3 | c.2321G>A (p.Trp774Ter) c.2147G>A (p.Trp716Ter) n.2298G>A c.2144G>A (p.Trp715Ter) c.2318G>A (p.Trp773Ter) | COSMIC |
| 7 | g.41967707A= | CA1702661889 | GLI3 | c.2320T= (p.Trp774=) c.2146T= (p.Trp716=) n.2297T= c.2143T= (p.Trp715=) c.2317T= (p.Trp773=) | |
| 7 | g.41967707A>C | CA367321337 | GLI3 | c.2320T>G (p.Trp774Gly) c.2146T>G (p.Trp716Gly) n.2297T>G c.2143T>G (p.Trp715Gly) c.2317T>G (p.Trp773Gly) | |
| 7 | g.41967707A>G | CA367321338 | GLI3 | c.2320T>C (p.Trp774Arg) c.2146T>C (p.Trp716Arg) n.2297T>C c.2143T>C (p.Trp715Arg) c.2317T>C (p.Trp773Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41967707A>T | CA367321339 | GLI3 | c.2320T>A (p.Trp774Arg) c.2146T>A (p.Trp716Arg) n.2297T>A c.2143T>A (p.Trp715Arg) c.2317T>A (p.Trp773Arg) | dbSNP |
| 7 | g.41967708T>A | CA367321340 | GLI3 | c.2319A>T (p.Lys773Asn) c.2145A>T (p.Lys715Asn) n.2296A>T c.2142A>T (p.Lys714Asn) c.2316A>T (p.Lys772Asn) | |
| 7 | g.41967708T>C | CA454663391 | GLI3 | c.2319A>G (p.Lys773=) c.2145A>G (p.Lys715=) n.2296A>G c.2142A>G (p.Lys714=) c.2316A>G (p.Lys772=) | |
| 7 | g.41967708T>G | CA367321341 | GLI3 | c.2319A>C (p.Lys773Asn) c.2145A>C (p.Lys715Asn) n.2296A>C c.2142A>C (p.Lys714Asn) c.2316A>C (p.Lys772Asn) | |
| 7 | g.41967709T>A | CA367321342 | GLI3 | c.2318A>T (p.Lys773Ile) c.2144A>T (p.Lys715Ile) n.2295A>T c.2141A>T (p.Lys714Ile) c.2315A>T (p.Lys772Ile) | |
| 7 | g.41967709T>C | CA4230641 | GLI3 | c.2318A>G (p.Lys773Arg) c.2144A>G (p.Lys715Arg) n.2295A>G c.2141A>G (p.Lys714Arg) c.2315A>G (p.Lys772Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41967709T>G | CA367321343 | GLI3 | c.2318A>C (p.Lys773Thr) c.2144A>C (p.Lys715Thr) n.2295A>C c.2141A>C (p.Lys714Thr) c.2315A>C (p.Lys772Thr) | |
| 7 | g.41967709T= | CA1702661890 | GLI3 | c.2318A= (p.Lys773=) c.2144A= (p.Lys715=) n.2295A= c.2141A= (p.Lys714=) c.2315A= (p.Lys772=) | |
| 7 | g.41967710T>A | CA367321346 | GLI3 | c.2317A>T (p.Lys773Ter) c.2143A>T (p.Lys715Ter) n.2294A>T c.2140A>T (p.Lys714Ter) c.2314A>T (p.Lys772Ter) | dbSNP |
| 7 | g.41967710T>C | CA367321345 | GLI3 | c.2317A>G (p.Lys773Glu) c.2143A>G (p.Lys715Glu) n.2294A>G c.2140A>G (p.Lys714Glu) c.2314A>G (p.Lys772Glu) | |
| 7 | g.41967710T>G | CA367321344 | GLI3 | c.2317A>C (p.Lys773Gln) c.2143A>C (p.Lys715Gln) n.2294A>C c.2140A>C (p.Lys714Gln) c.2314A>C (p.Lys772Gln) | |
| 7 | g.41967711G>A | CA454663395 | GLI3 | c.2316C>T (p.Thr772=) c.2142C>T (p.Thr714=) n.2293C>T c.2139C>T (p.Thr713=) c.2313C>T (p.Thr771=) | |
| 7 | g.41967711G>C | CA454663396 | GLI3 | c.2316C>G (p.Thr772=) c.2142C>G (p.Thr714=) n.2293C>G c.2139C>G (p.Thr713=) c.2313C>G (p.Thr771=) | dbSNP |
| 7 | g.41967711G>T | CA454663397 | GLI3 | c.2316C>A (p.Thr772=) c.2142C>A (p.Thr714=) n.2293C>A c.2139C>A (p.Thr713=) c.2313C>A (p.Thr771=) | dbSNP |
| 7 | g.41967712G>A | CA367321347 | GLI3 | c.2315C>T (p.Thr772Ile) c.2141C>T (p.Thr714Ile) n.2292C>T c.2138C>T (p.Thr713Ile) c.2312C>T (p.Thr771Ile) | dbSNP |
| 7 | g.41967712G>C | CA367321349 | GLI3 | c.2315C>G (p.Thr772Ser) c.2141C>G (p.Thr714Ser) n.2292C>G c.2138C>G (p.Thr713Ser) c.2312C>G (p.Thr771Ser) | dbSNP |
| 7 | g.41967712G= | CA1702661891 | GLI3 | c.2315C= (p.Thr772=) c.2141C= (p.Thr714=) n.2292C= c.2138C= (p.Thr713=) c.2312C= (p.Thr771=) | |
| 7 | g.41967712G>T | CA367321348 | GLI3 | c.2315C>A (p.Thr772Asn) c.2141C>A (p.Thr714Asn) n.2292C>A c.2138C>A (p.Thr713Asn) c.2312C>A (p.Thr771Asn) | dbSNP |
| 7 | g.41967713T>A | CA367321350 | GLI3 | c.2314A>T (p.Thr772Ser) c.2140A>T (p.Thr714Ser) n.2291A>T c.2137A>T (p.Thr713Ser) c.2311A>T (p.Thr771Ser) | ClinVar dbSNP |
| 7 | g.41967713T>C | CA367321351 | GLI3 | c.2314A>G (p.Thr772Ala) c.2140A>G (p.Thr714Ala) n.2291A>G c.2137A>G (p.Thr713Ala) c.2311A>G (p.Thr771Ala) | dbSNP gnomAD v4 |
| 7 | g.41967713T>G | CA367321352 | GLI3 | c.2314A>C (p.Thr772Pro) c.2140A>C (p.Thr714Pro) n.2291A>C c.2137A>C (p.Thr713Pro) c.2311A>C (p.Thr771Pro) | dbSNP |
| 7 | g.41967714C>A | CA454663400 | GLI3 | c.2313G>T (p.Gly771=) c.2139G>T (p.Gly713=) n.2290G>T c.2136G>T (p.Gly712=) c.2310G>T (p.Gly770=) | |
| 7 | g.41967714C= | CA1702661892 | GLI3 | c.2313G= (p.Gly771=) c.2139G= (p.Gly713=) n.2290G= c.2136G= (p.Gly712=) c.2310G= (p.Gly770=) | |
| 7 | g.41967714C>G | CA454663402 | GLI3 | c.2313G>C (p.Gly771=) c.2139G>C (p.Gly713=) n.2290G>C c.2136G>C (p.Gly712=) c.2310G>C (p.Gly770=) | dbSNP |
| 7 | g.41967714C>T | CA454663404 | GLI3 | c.2313G>A (p.Gly771=) c.2139G>A (p.Gly713=) n.2290G>A c.2136G>A (p.Gly712=) c.2310G>A (p.Gly770=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967715C>A | CA367321353 | GLI3 | c.2312G>T (p.Gly771Val) c.2138G>T (p.Gly713Val) n.2289G>T c.2135G>T (p.Gly712Val) c.2309G>T (p.Gly770Val) | dbSNP |
| 7 | g.41967715C>G | CA367321354 | GLI3 | c.2312G>C (p.Gly771Ala) c.2138G>C (p.Gly713Ala) n.2289G>C c.2135G>C (p.Gly712Ala) c.2309G>C (p.Gly770Ala) | dbSNP |
| 7 | g.41967715C>T | CA367321355 | GLI3 | c.2312G>A (p.Gly771Glu) c.2138G>A (p.Gly713Glu) n.2289G>A c.2135G>A (p.Gly712Glu) c.2309G>A (p.Gly770Glu) | dbSNP gnomAD v4 |
| 7 | g.41967716C>A | CA367321356 | GLI3 | c.2311G>T (p.Gly771Trp) c.2137G>T (p.Gly713Trp) n.2288G>T c.2134G>T (p.Gly712Trp) c.2308G>T (p.Gly770Trp) | |
| 7 | g.41967716C= | CA1702661893 | GLI3 | c.2311G= (p.Gly771=) c.2137G= (p.Gly713=) n.2288G= c.2134G= (p.Gly712=) c.2308G= (p.Gly770=) | |
| 7 | g.41967716C>G | CA367321357 | GLI3 | c.2311G>C (p.Gly771Arg) c.2137G>C (p.Gly713Arg) n.2288G>C c.2134G>C (p.Gly712Arg) c.2308G>C (p.Gly770Arg) | dbSNP |
| 7 | g.41967716C>T | CA367321358 | GLI3 | c.2311G>A (p.Gly771Arg) c.2137G>A (p.Gly713Arg) n.2288G>A c.2134G>A (p.Gly712Arg) c.2308G>A (p.Gly770Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41967717T>A | CA454663407 | GLI3 | c.2310A>T (p.Ala770=) c.2136A>T (p.Ala712=) n.2287A>T c.2133A>T (p.Ala711=) c.2307A>T (p.Ala769=) | dbSNP |
| 7 | g.41967717T>C | CA454663409 | GLI3 | c.2310A>G (p.Ala770=) c.2136A>G (p.Ala712=) n.2287A>G c.2133A>G (p.Ala711=) c.2307A>G (p.Ala769=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.41967717T>G | CA454663408 | GLI3 | c.2310A>C (p.Ala770=) c.2136A>C (p.Ala712=) n.2287A>C c.2133A>C (p.Ala711=) c.2307A>C (p.Ala769=) | gnomAD v4 |
| 7 | g.41967717T= | CA1702661894 | GLI3 | c.2310A= (p.Ala770=) c.2136A= (p.Ala712=) n.2287A= c.2133A= (p.Ala711=) c.2307A= (p.Ala769=) | |
| 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=) |