Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.41967574_41967577del | CA2682510668 | GLI3 | c.2431+22_2431+25del (n.2431+22_2431+25del) c.2257+22_2257+25del (n.2257+22_2257+25del) n.2408+22_2408+25del c.2254+22_2254+25del (n.2254+22_2254+25del) c.2428+22_2428+25del (n.2428+22_2428+25del) | gnomAD v4 |
7 | g.41967576T>C | CA838580303 | GLI3 | c.2431+20A>G (n.2431+20A>G) c.2257+20A>G (n.2257+20A>G) n.2408+20A>G c.2254+20A>G (n.2254+20A>G) c.2428+20A>G (n.2428+20A>G) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.41967576T= | CA1702661833 | GLI3 | c.2431+20A= (n.2431+20A=) c.2257+20A= (n.2257+20A=) n.2408+20A= c.2254+20A= (n.2254+20A=) c.2428+20A= (n.2428+20A=) | |
7 | g.41967577G>T | CA2578897337 | GLI3 | c.2431+19C>A (n.2431+19C>A) c.2257+19C>A (n.2257+19C>A) n.2408+19C>A c.2254+19C>A (n.2254+19C>A) c.2428+19C>A (n.2428+19C>A) | gnomAD v4 |
7 | g.41967578G>A | CA838580310 | GLI3 | c.2431+18C>T (n.2431+18C>T) c.2257+18C>T (n.2257+18C>T) n.2408+18C>T c.2254+18C>T (n.2254+18C>T) c.2428+18C>T (n.2428+18C>T) | dbSNP gnomAD v4 |
7 | g.41967578G= | CA1702661834 | GLI3 | c.2431+18C= (n.2431+18C=) c.2257+18C= (n.2257+18C=) n.2408+18C= c.2254+18C= (n.2254+18C=) c.2428+18C= (n.2428+18C=) | |
7 | g.41967578G>T | CA573904572 | GLI3 | c.2431+18C>A (n.2431+18C>A) c.2257+18C>A (n.2257+18C>A) n.2408+18C>A c.2254+18C>A (n.2254+18C>A) c.2428+18C>A (n.2428+18C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41967582G>A | CA2682510675 | GLI3 | c.2431+14C>T (n.2431+14C>T) c.2257+14C>T (n.2257+14C>T) n.2408+14C>T c.2254+14C>T (n.2254+14C>T) c.2428+14C>T (n.2428+14C>T) | gnomAD v4 |
7 | g.41967582G>C | CA2682510677 | GLI3 | c.2431+14C>G (n.2431+14C>G) c.2257+14C>G (n.2257+14C>G) n.2408+14C>G c.2254+14C>G (n.2254+14C>G) c.2428+14C>G (n.2428+14C>G) | gnomAD v4 |
7 | g.41967582G= | CA1702661835 | GLI3 | c.2431+14C= (n.2431+14C=) c.2257+14C= (n.2257+14C=) n.2408+14C= c.2254+14C= (n.2254+14C=) c.2428+14C= (n.2428+14C=) | |
7 | g.41967582G>T | CA4230614 | GLI3 | c.2431+14C>A (n.2431+14C>A) c.2257+14C>A (n.2257+14C>A) n.2408+14C>A c.2254+14C>A (n.2254+14C>A) c.2428+14C>A (n.2428+14C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.41967583A>C | CA2682510679 | GLI3 | c.2431+13T>G (n.2431+13T>G) c.2257+13T>G (n.2257+13T>G) n.2408+13T>G c.2254+13T>G (n.2254+13T>G) c.2428+13T>G (n.2428+13T>G) | gnomAD v4 |
7 | g.41967583A>T | CA2578897338 | GLI3 | c.2431+13T>A (n.2431+13T>A) c.2257+13T>A (n.2257+13T>A) n.2408+13T>A c.2254+13T>A (n.2254+13T>A) c.2428+13T>A (n.2428+13T>A) | gnomAD v4 |
7 | g.41967584T>C | CA4230615 | GLI3 | c.2431+12A>G (n.2431+12A>G) c.2257+12A>G (n.2257+12A>G) n.2408+12A>G c.2254+12A>G (n.2254+12A>G) c.2428+12A>G (n.2428+12A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.41967584T= | CA1702661836 | GLI3 | c.2431+12A= (n.2431+12A=) c.2257+12A= (n.2257+12A=) n.2408+12A= c.2254+12A= (n.2254+12A=) c.2428+12A= (n.2428+12A=) | |
7 | g.41967585G>T | CA2682510683 | GLI3 | c.2431+11C>A (n.2431+11C>A) c.2257+11C>A (n.2257+11C>A) n.2408+11C>A c.2254+11C>A (n.2254+11C>A) c.2428+11C>A (n.2428+11C>A) | gnomAD v4 |
7 | g.41967586T>C | CA573904573 | GLI3 | c.2431+10A>G (n.2431+10A>G) c.2257+10A>G (n.2257+10A>G) n.2408+10A>G c.2254+10A>G (n.2254+10A>G) c.2428+10A>G (n.2428+10A>G) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41967586T= | CA1702661837 | GLI3 | c.2431+10A= (n.2431+10A=) c.2257+10A= (n.2257+10A=) n.2408+10A= c.2254+10A= (n.2254+10A=) c.2428+10A= (n.2428+10A=) | |
7 | g.41967587A>T | CA2682510687 | GLI3 | c.2431+9T>A (n.2431+9T>A) c.2257+9T>A (n.2257+9T>A) n.2408+9T>A c.2254+9T>A (n.2254+9T>A) c.2428+9T>A (n.2428+9T>A) | gnomAD v4 |
7 | g.41967588G= | CA1702661838 | GLI3 | c.2431+8C= (n.2431+8C=) c.2257+8C= (n.2257+8C=) n.2408+8C= c.2254+8C= (n.2254+8C=) c.2428+8C= (n.2428+8C=) | |
7 | g.41967588G>T | CA4230616 | GLI3 | c.2431+8C>A (n.2431+8C>A) c.2257+8C>A (n.2257+8C>A) n.2408+8C>A c.2254+8C>A (n.2254+8C>A) c.2428+8C>A (n.2428+8C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41967593C>A | CA1100611788 | GLI3 | c.2431+3G>T (n.2431+3G>T) c.2257+3G>T (n.2257+3G>T) n.2408+3G>T c.2254+3G>T (n.2254+3G>T) c.2428+3G>T (n.2428+3G>T) | |
7 | g.41967593C>T | CA2682510693 | GLI3 | c.2431+3G>A (n.2431+3G>A) c.2257+3G>A (n.2257+3G>A) n.2408+3G>A c.2254+3G>A (n.2254+3G>A) c.2428+3G>A (n.2428+3G>A) | gnomAD v4 |
7 | g.41967594A>C | CA367321107 | GLI3 | c.2431+2T>G (n.2431+2T>G) c.2257+2T>G (n.2257+2T>G) n.2408+2T>G c.2254+2T>G (n.2254+2T>G) c.2428+2T>G (n.2428+2T>G) | |
7 | g.41967594A>G | CA367321108 | GLI3 | c.2431+2T>C (n.2431+2T>C) c.2257+2T>C (n.2257+2T>C) n.2408+2T>C c.2254+2T>C (n.2254+2T>C) c.2428+2T>C (n.2428+2T>C) | |
7 | g.41967594A>T | CA367321109 | GLI3 | c.2431+2T>A (n.2431+2T>A) c.2257+2T>A (n.2257+2T>A) n.2408+2T>A c.2254+2T>A (n.2254+2T>A) c.2428+2T>A (n.2428+2T>A) | |
7 | g.41967595C>A | CA367321110 | GLI3 | c.2431+1G>T (n.2431+1G>T) c.2257+1G>T (n.2257+1G>T) n.2408+1G>T c.2254+1G>T (n.2254+1G>T) c.2428+1G>T (n.2428+1G>T) | |
7 | g.41967595C= | CA1702661839 | GLI3 | c.2431+1G= (n.2431+1G=) c.2257+1G= (n.2257+1G=) n.2408+1G= c.2254+1G= (n.2254+1G=) c.2428+1G= (n.2428+1G=) | |
7 | g.41967595C>G | CA367321111 | GLI3 | c.2431+1G>C (n.2431+1G>C) c.2257+1G>C (n.2257+1G>C) n.2408+1G>C c.2254+1G>C (n.2254+1G>C) c.2428+1G>C (n.2428+1G>C) | |
7 | g.41967595C>T | CA342930 | GLI3 | c.2431+1G>A (n.2431+1G>A) c.2257+1G>A (n.2257+1G>A) n.2408+1G>A c.2254+1G>A (n.2254+1G>A) c.2428+1G>A (n.2428+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.41967596C>A | CA367321112 | GLI3 | c.2431G>T (p.Gly811Cys) c.2257G>T (p.Gly753Cys) n.2408G>T c.2254G>T (p.Gly752Cys) c.2428G>T (p.Gly810Cys) | |
7 | g.41967596C>G | CA367321114 | GLI3 | c.2431G>C (p.Gly811Arg) c.2257G>C (p.Gly753Arg) n.2408G>C c.2254G>C (p.Gly752Arg) c.2428G>C (p.Gly810Arg) | |
7 | g.41967596C>T | CA367321113 | GLI3 | c.2431G>A (p.Gly811Ser) c.2257G>A (p.Gly753Ser) n.2408G>A c.2254G>A (p.Gly752Ser) c.2428G>A (p.Gly810Ser) | |
7 | g.41967597A>C | CA367321115 | GLI3 | c.2430T>G (p.Asn810Lys) c.2256T>G (p.Asn752Lys) n.2407T>G c.2253T>G (p.Asn751Lys) c.2427T>G (p.Asn809Lys) | |
7 | g.41967597A>G | CA454662878 | GLI3 | c.2430T>C (p.Asn810=) c.2256T>C (p.Asn752=) n.2407T>C c.2253T>C (p.Asn751=) c.2427T>C (p.Asn809=) | gnomAD v4 |
7 | g.41967597A>T | CA367321116 | GLI3 | c.2430T>A (p.Asn810Lys) c.2256T>A (p.Asn752Lys) n.2407T>A c.2253T>A (p.Asn751Lys) c.2427T>A (p.Asn809Lys) | |
7 | g.41967598T>A | CA367321117 | GLI3 | c.2429A>T (p.Asn810Ile) c.2255A>T (p.Asn752Ile) n.2406A>T c.2252A>T (p.Asn751Ile) c.2426A>T (p.Asn809Ile) | |
7 | g.41967598T>C | CA156908936 | GLI3 | c.2429A>G (p.Asn810Ser) c.2255A>G (p.Asn752Ser) n.2406A>G c.2252A>G (p.Asn751Ser) c.2426A>G (p.Asn809Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.41967598T>G | CA367321118 | GLI3 | c.2429A>C (p.Asn810Thr) c.2255A>C (p.Asn752Thr) n.2406A>C c.2252A>C (p.Asn751Thr) c.2426A>C (p.Asn809Thr) | |
7 | g.41967598T= | CA1702661840 | GLI3 | c.2429A= (p.Asn810=) c.2255A= (p.Asn752=) n.2406A= c.2252A= (p.Asn751=) c.2426A= (p.Asn809=) | |
7 | g.41967599T>A | CA367321119 | GLI3 | c.2428A>T (p.Asn810Tyr) c.2254A>T (p.Asn752Tyr) n.2405A>T c.2251A>T (p.Asn751Tyr) c.2425A>T (p.Asn809Tyr) | |
7 | g.41967599T>C | CA367321120 | GLI3 | c.2428A>G (p.Asn810Asp) c.2254A>G (p.Asn752Asp) n.2405A>G c.2251A>G (p.Asn751Asp) c.2425A>G (p.Asn809Asp) | |
7 | g.41967599T>G | CA367321121 | GLI3 | c.2428A>C (p.Asn810His) c.2254A>C (p.Asn752His) n.2405A>C c.2251A>C (p.Asn751His) c.2425A>C (p.Asn809His) | |
7 | g.41967600T>A | CA454662879 | GLI3 | c.2427A>T (p.Gly809=) c.2253A>T (p.Gly751=) n.2404A>T c.2250A>T (p.Gly750=) c.2424A>T (p.Gly808=) | gnomAD v4 |
7 | g.41967600T>C | CA454662880 | GLI3 | c.2427A>G (p.Gly809=) c.2253A>G (p.Gly751=) n.2404A>G c.2250A>G (p.Gly750=) c.2424A>G (p.Gly808=) | |
7 | g.41967600T>G | CA454662881 | GLI3 | c.2427A>C (p.Gly809=) c.2253A>C (p.Gly751=) n.2404A>C c.2250A>C (p.Gly750=) c.2424A>C (p.Gly808=) | |
7 | g.41967601C>A | CA367321122 | GLI3 | c.2426G>T (p.Gly809Val) c.2252G>T (p.Gly751Val) n.2403G>T c.2249G>T (p.Gly750Val) c.2423G>T (p.Gly808Val) | |
7 | g.41967601C>G | CA367321123 | GLI3 | c.2426G>C (p.Gly809Ala) c.2252G>C (p.Gly751Ala) n.2403G>C c.2249G>C (p.Gly750Ala) c.2423G>C (p.Gly808Ala) | gnomAD v4 |
7 | g.41967601C>T | CA367321124 | GLI3 | c.2426G>A (p.Gly809Glu) c.2252G>A (p.Gly751Glu) n.2403G>A c.2249G>A (p.Gly750Glu) c.2423G>A (p.Gly808Glu) | |
7 | g.41967602C>A | CA367321126 | GLI3 | c.2425G>T (p.Gly809Ter) c.2251G>T (p.Gly751Ter) n.2402G>T c.2248G>T (p.Gly750Ter) c.2422G>T (p.Gly808Ter) | |
7 | g.41967602C>G | CA367321127 | GLI3 | c.2425G>C (p.Gly809Arg) c.2251G>C (p.Gly751Arg) n.2402G>C c.2248G>C (p.Gly750Arg) c.2422G>C (p.Gly808Arg) | |
7 | g.41967602C>T | CA367321125 | GLI3 | c.2425G>A (p.Gly809Arg) c.2251G>A (p.Gly751Arg) n.2402G>A c.2248G>A (p.Gly750Arg) c.2422G>A (p.Gly808Arg) | |
7 | g.41967603T>A | CA454663024 | GLI3 | c.2424A>T (p.Ile808=) c.2250A>T (p.Ile750=) n.2401A>T c.2247A>T (p.Ile749=) c.2421A>T (p.Ile807=) | |
7 | g.41967603T>C | CA4230617 | GLI3 | c.2424A>G (p.Ile808Met) c.2250A>G (p.Ile750Met) n.2401A>G c.2247A>G (p.Ile749Met) c.2421A>G (p.Ile807Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41967603T>G | CA454663025 | GLI3 | c.2424A>C (p.Ile808=) c.2250A>C (p.Ile750=) n.2401A>C c.2247A>C (p.Ile749=) c.2421A>C (p.Ile807=) | |
7 | g.41967603T= | CA1702661841 | GLI3 | c.2424A= (p.Ile808=) c.2250A= (p.Ile750=) n.2401A= c.2247A= (p.Ile749=) c.2421A= (p.Ile807=) | |
7 | g.41967604A= | CA1702661842 | GLI3 | c.2423T= (p.Ile808=) c.2249T= (p.Ile750=) n.2400T= c.2246T= (p.Ile749=) c.2420T= (p.Ile807=) | |
7 | g.41967604A>C | CA367321128 | GLI3 | c.2423T>G (p.Ile808Arg) c.2249T>G (p.Ile750Arg) n.2400T>G c.2246T>G (p.Ile749Arg) c.2420T>G (p.Ile807Arg) | |
7 | g.41967604A>G | CA156908938 | GLI3 | c.2423T>C (p.Ile808Thr) c.2249T>C (p.Ile750Thr) n.2400T>C c.2246T>C (p.Ile749Thr) c.2420T>C (p.Ile807Thr) | dbSNP gnomAD v4 |
7 | g.41967604A>T | CA367321129 | GLI3 | c.2423T>A (p.Ile808Lys) c.2249T>A (p.Ile750Lys) n.2400T>A c.2246T>A (p.Ile749Lys) c.2420T>A (p.Ile807Lys) | gnomAD v3 gnomAD v4 |
7 | g.41967605T>A | CA367321130 | GLI3 | c.2422A>T (p.Ile808Leu) c.2248A>T (p.Ile750Leu) n.2399A>T c.2245A>T (p.Ile749Leu) c.2419A>T (p.Ile807Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41967605T>C | CA4230618 | GLI3 | c.2422A>G (p.Ile808Val) c.2248A>G (p.Ile750Val) n.2399A>G c.2245A>G (p.Ile749Val) c.2419A>G (p.Ile807Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.41967605T>G | CA367321131 | GLI3 | c.2422A>C (p.Ile808Leu) c.2248A>C (p.Ile750Leu) n.2399A>C c.2245A>C (p.Ile749Leu) c.2419A>C (p.Ile807Leu) | gnomAD v4 COSMIC |
7 | g.41967605T= | CA1702661843 | GLI3 | c.2422A= (p.Ile808=) c.2248A= (p.Ile750=) n.2399A= c.2245A= (p.Ile749=) c.2419A= (p.Ile807=) | |
7 | g.41967606G>A | CA454663026 | GLI3 | c.2421C>T (p.Leu807=) c.2247C>T (p.Leu749=) n.2398C>T c.2244C>T (p.Leu748=) c.2418C>T (p.Leu806=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41967606G>C | CA454663027 | GLI3 | c.2421C>G (p.Leu807=) c.2247C>G (p.Leu749=) n.2398C>G c.2244C>G (p.Leu748=) c.2418C>G (p.Leu806=) | |
7 | g.41967606G= | CA1702661844 | GLI3 | c.2421C= (p.Leu807=) c.2247C= (p.Leu749=) n.2398C= c.2244C= (p.Leu748=) c.2418C= (p.Leu806=) | |
7 | g.41967606G>T | CA454663028 | GLI3 | c.2421C>A (p.Leu807=) c.2247C>A (p.Leu749=) n.2398C>A c.2244C>A (p.Leu748=) c.2418C>A (p.Leu806=) | |
7 | g.41967607A>C | CA367321132 | GLI3 | c.2420T>G (p.Leu807Arg) c.2246T>G (p.Leu749Arg) n.2397T>G c.2243T>G (p.Leu748Arg) c.2417T>G (p.Leu806Arg) | |
7 | g.41967607A>G | CA367321133 | GLI3 | c.2420T>C (p.Leu807Pro) c.2246T>C (p.Leu749Pro) n.2397T>C c.2243T>C (p.Leu748Pro) c.2417T>C (p.Leu806Pro) | |
7 | g.41967607A>T | CA367321134 | GLI3 | c.2420T>A (p.Leu807His) c.2246T>A (p.Leu749His) n.2397T>A c.2243T>A (p.Leu748His) c.2417T>A (p.Leu806His) | |
7 | g.41967608G>A | CA10588426 | GLI3 | c.2419C>T (p.Leu807Phe) c.2245C>T (p.Leu749Phe) n.2396C>T c.2242C>T (p.Leu748Phe) c.2416C>T (p.Leu806Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.41967608G>C | CA367321135 | GLI3 | c.2419C>G (p.Leu807Val) c.2245C>G (p.Leu749Val) n.2396C>G c.2242C>G (p.Leu748Val) c.2416C>G (p.Leu806Val) | gnomAD v4 |
7 | g.41967608G= | CA1702661845 | GLI3 | c.2419C= (p.Leu807=) c.2245C= (p.Leu749=) n.2396C= c.2242C= (p.Leu748=) c.2416C= (p.Leu806=) | |
7 | g.41967608G>T | CA367321136 | GLI3 | c.2419C>A (p.Leu807Ile) c.2245C>A (p.Leu749Ile) n.2396C>A c.2242C>A (p.Leu748Ile) c.2416C>A (p.Leu806Ile) | |
7 | g.41967609A= | CA1702661846 | GLI3 | c.2418T= (p.Pro806=) c.2244T= (p.Pro748=) n.2395T= c.2241T= (p.Pro747=) c.2415T= (p.Pro805=) | |
7 | g.41967609A>C | CA4230619 | GLI3 | c.2418T>G (p.Pro806=) c.2244T>G (p.Pro748=) n.2395T>G c.2241T>G (p.Pro747=) c.2415T>G (p.Pro805=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.41967609A>G | CA454663030 | GLI3 | c.2418T>C (p.Pro806=) c.2244T>C (p.Pro748=) n.2395T>C c.2241T>C (p.Pro747=) c.2415T>C (p.Pro805=) | gnomAD v4 |
7 | g.41967609A>T | CA454663029 | GLI3 | c.2418T>A (p.Pro806=) c.2244T>A (p.Pro748=) n.2395T>A c.2241T>A (p.Pro747=) c.2415T>A (p.Pro805=) | |
7 | g.41967610G>A | CA4230620 | GLI3 | c.2417C>T (p.Pro806Leu) c.2243C>T (p.Pro748Leu) n.2394C>T c.2240C>T (p.Pro747Leu) c.2414C>T (p.Pro805Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41967610G>C | CA367321137 | GLI3 | c.2417C>G (p.Pro806Arg) c.2243C>G (p.Pro748Arg) n.2394C>G c.2240C>G (p.Pro747Arg) c.2414C>G (p.Pro805Arg) | |
7 | g.41967610G= | CA1702661847 | GLI3 | c.2417C= (p.Pro806=) c.2243C= (p.Pro748=) n.2394C= c.2240C= (p.Pro747=) c.2414C= (p.Pro805=) | |
7 | g.41967610G>T | CA4230621 | GLI3 | c.2417C>A (p.Pro806His) c.2243C>A (p.Pro748His) n.2394C>A c.2240C>A (p.Pro747His) c.2414C>A (p.Pro805His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.41967611G>A | CA156908962 | GLI3 | c.2416C>T (p.Pro806Ser) c.2242C>T (p.Pro748Ser) n.2393C>T c.2239C>T (p.Pro747Ser) c.2413C>T (p.Pro805Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.41967611G>C | CA367321138 | GLI3 | c.2416C>G (p.Pro806Ala) c.2242C>G (p.Pro748Ala) n.2393C>G c.2239C>G (p.Pro747Ala) c.2413C>G (p.Pro805Ala) | |
7 | g.41967611G= | CA1702661848 | GLI3 | c.2416C= (p.Pro806=) c.2242C= (p.Pro748=) n.2393C= c.2239C= (p.Pro747=) c.2413C= (p.Pro805=) | |
7 | g.41967611G>T | CA367321139 | GLI3 | c.2416C>A (p.Pro806Thr) c.2242C>A (p.Pro748Thr) n.2393C>A c.2239C>A (p.Pro747Thr) c.2413C>A (p.Pro805Thr) | |
7 | g.41967612A>C | CA454663035 | GLI3 | c.2415T>G (p.Ser805=) c.2241T>G (p.Ser747=) n.2392T>G c.2238T>G (p.Ser746=) c.2412T>G (p.Ser804=) | |
7 | g.41967612A>G | CA454663034 | GLI3 | c.2415T>C (p.Ser805=) c.2241T>C (p.Ser747=) n.2392T>C c.2238T>C (p.Ser746=) c.2412T>C (p.Ser804=) | gnomAD v4 |
7 | g.41967612A>T | CA454663033 | GLI3 | c.2415T>A (p.Ser805=) c.2241T>A (p.Ser747=) n.2392T>A c.2238T>A (p.Ser746=) c.2412T>A (p.Ser804=) | |
7 | g.41967613G>A | CA367321140 | GLI3 | c.2414C>T (p.Ser805Phe) c.2240C>T (p.Ser747Phe) n.2391C>T c.2237C>T (p.Ser746Phe) c.2411C>T (p.Ser804Phe) | gnomAD v4 |
7 | g.41967613G>C | CA367321141 | GLI3 | c.2414C>G (p.Ser805Cys) c.2240C>G (p.Ser747Cys) n.2391C>G c.2237C>G (p.Ser746Cys) c.2411C>G (p.Ser804Cys) | |
7 | g.41967613G>T | CA367321142 | GLI3 | c.2414C>A (p.Ser805Tyr) c.2240C>A (p.Ser747Tyr) n.2391C>A c.2237C>A (p.Ser746Tyr) c.2411C>A (p.Ser804Tyr) | |
7 | g.41967614A>C | CA367321143 | GLI3 | c.2413T>G (p.Ser805Ala) c.2239T>G (p.Ser747Ala) n.2390T>G c.2236T>G (p.Ser746Ala) c.2410T>G (p.Ser804Ala) | gnomAD v4 |
7 | g.41967614A>G | CA367321144 | GLI3 | c.2413T>C (p.Ser805Pro) c.2239T>C (p.Ser747Pro) n.2390T>C c.2236T>C (p.Ser746Pro) c.2410T>C (p.Ser804Pro) | |
7 | g.41967614A>T | CA367321145 | GLI3 | c.2413T>A (p.Ser805Thr) c.2239T>A (p.Ser747Thr) n.2390T>A c.2236T>A (p.Ser746Thr) c.2410T>A (p.Ser804Thr) | |
7 | g.41967615G>A | CA4230622 | GLI3 | c.2412C>T (p.Val804=) c.2238C>T (p.Val746=) n.2389C>T c.2235C>T (p.Val745=) c.2409C>T (p.Val803=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.41967615G>C | CA4230623 | GLI3 | c.2412C>G (p.Val804=) c.2238C>G (p.Val746=) n.2389C>G c.2235C>G (p.Val745=) c.2409C>G (p.Val803=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41967615G= | CA1702661849 | GLI3 | c.2412C= (p.Val804=) c.2238C= (p.Val746=) n.2389C= c.2235C= (p.Val745=) c.2409C= (p.Val803=) | |
7 | g.41967615G>T | CA454663038 | GLI3 | c.2412C>A (p.Val804=) c.2238C>A (p.Val746=) n.2389C>A c.2235C>A (p.Val745=) c.2409C>A (p.Val803=) | |
7 | g.41967616A>C | CA367321147 | GLI3 | c.2411T>G (p.Val804Gly) c.2237T>G (p.Val746Gly) n.2388T>G c.2234T>G (p.Val745Gly) c.2408T>G (p.Val803Gly) | |
7 | g.41967616A>G | CA367321148 | GLI3 | c.2411T>C (p.Val804Ala) c.2237T>C (p.Val746Ala) n.2388T>C c.2234T>C (p.Val745Ala) c.2408T>C (p.Val803Ala) | |
7 | g.41967616A>T | CA367321146 | GLI3 | c.2411T>A (p.Val804Asp) c.2237T>A (p.Val746Asp) n.2388T>A c.2234T>A (p.Val745Asp) c.2408T>A (p.Val803Asp) | |
7 | g.41967617C>A | CA367321149 | GLI3 | c.2410G>T (p.Val804Phe) c.2236G>T (p.Val746Phe) n.2387G>T c.2233G>T (p.Val745Phe) c.2407G>T (p.Val803Phe) | |
7 | g.41967617C>G | CA367321150 | GLI3 | c.2410G>C (p.Val804Leu) c.2236G>C (p.Val746Leu) n.2387G>C c.2233G>C (p.Val745Leu) c.2407G>C (p.Val803Leu) | gnomAD v4 |
7 | g.41967617C>T | CA367321151 | GLI3 | c.2410G>A (p.Val804Ile) c.2236G>A (p.Val746Ile) n.2387G>A c.2233G>A (p.Val745Ile) c.2407G>A (p.Val803Ile) | gnomAD v4 |
7 | g.41967618C>A | CA454663040 | GLI3 | c.2409G>T (p.Ala803=) c.2235G>T (p.Ala745=) n.2386G>T c.2232G>T (p.Ala744=) c.2406G>T (p.Ala802=) | gnomAD v4 |
7 | g.41967618C= | CA1702661850 | GLI3 | c.2409G= (p.Ala803=) c.2235G= (p.Ala745=) n.2386G= c.2232G= (p.Ala744=) c.2406G= (p.Ala802=) | |
7 | g.41967618C>G | CA454663041 | GLI3 | c.2409G>C (p.Ala803=) c.2235G>C (p.Ala745=) n.2386G>C c.2232G>C (p.Ala744=) c.2406G>C (p.Ala802=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41967618C>T | CA4230624 | GLI3 | c.2409G>A (p.Ala803=) c.2235G>A (p.Ala745=) n.2386G>A c.2232G>A (p.Ala744=) c.2406G>A (p.Ala802=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41967619G>A | CA4230625 | GLI3 | c.2408C>T (p.Ala803Val) c.2234C>T (p.Ala745Val) n.2385C>T c.2231C>T (p.Ala744Val) c.2405C>T (p.Ala802Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41967619G>C | CA367321152 | GLI3 | c.2408C>G (p.Ala803Gly) c.2234C>G (p.Ala745Gly) n.2385C>G c.2231C>G (p.Ala744Gly) c.2405C>G (p.Ala802Gly) | |
7 | g.41967619G= | CA1702661851 | GLI3 | c.2408C= (p.Ala803=) c.2234C= (p.Ala745=) n.2385C= c.2231C= (p.Ala744=) c.2405C= (p.Ala802=) | |
7 | g.41967619G>T | CA367321153 | GLI3 | c.2408C>A (p.Ala803Glu) c.2234C>A (p.Ala745Glu) n.2385C>A c.2231C>A (p.Ala744Glu) c.2405C>A (p.Ala802Glu) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41967620C>A | CA4230627 | GLI3 | c.2407G>T (p.Ala803Ser) c.2233G>T (p.Ala745Ser) n.2384G>T c.2230G>T (p.Ala744Ser) c.2404G>T (p.Ala802Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.41967620C= | CA1702661852 | GLI3 | c.2407G= (p.Ala803=) c.2233G= (p.Ala745=) n.2384G= c.2230G= (p.Ala744=) c.2404G= (p.Ala802=) | |
7 | g.41967620C>G | CA4230626 | GLI3 | c.2407G>C (p.Ala803Pro) c.2233G>C (p.Ala745Pro) n.2384G>C c.2230G>C (p.Ala744Pro) c.2404G>C (p.Ala802Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41967620C>T | CA367321154 | GLI3 | c.2407G>A (p.Ala803Thr) c.2233G>A (p.Ala745Thr) n.2384G>A c.2230G>A (p.Ala744Thr) c.2404G>A (p.Ala802Thr) | |
7 | g.41967621A= | CA1702661853 | GLI3 | c.2406T= (p.Pro802=) c.2232T= (p.Pro744=) n.2383T= c.2229T= (p.Pro743=) c.2403T= (p.Pro801=) | |
7 | g.41967621A>C | CA4230628 | GLI3 | c.2406T>G (p.Pro802=) c.2232T>G (p.Pro744=) n.2383T>G c.2229T>G (p.Pro743=) c.2403T>G (p.Pro801=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.41967621A>G | CA454663045 | GLI3 | c.2406T>C (p.Pro802=) c.2232T>C (p.Pro744=) n.2383T>C c.2229T>C (p.Pro743=) c.2403T>C (p.Pro801=) | |
7 | g.41967621A>T | CA454663046 | GLI3 | c.2406T>A (p.Pro802=) c.2232T>A (p.Pro744=) n.2383T>A c.2229T>A (p.Pro743=) c.2403T>A (p.Pro801=) | |
7 | g.41967622G>A | CA367321155 | GLI3 | c.2405C>T (p.Pro802Leu) c.2231C>T (p.Pro744Leu) n.2382C>T c.2228C>T (p.Pro743Leu) c.2402C>T (p.Pro801Leu) | gnomAD v4 |
7 | g.41967622G>C | CA367321156 | GLI3 | c.2405C>G (p.Pro802Arg) c.2231C>G (p.Pro744Arg) n.2382C>G c.2228C>G (p.Pro743Arg) c.2402C>G (p.Pro801Arg) | |
7 | g.41967622G>T | CA367321157 | GLI3 | c.2405C>A (p.Pro802His) c.2231C>A (p.Pro744His) n.2382C>A c.2228C>A (p.Pro743His) c.2402C>A (p.Pro801His) | |
7 | g.41967623G>A | CA367321158 | GLI3 | c.2404C>T (p.Pro802Ser) c.2230C>T (p.Pro744Ser) n.2381C>T c.2227C>T (p.Pro743Ser) c.2401C>T (p.Pro801Ser) | |
7 | g.41967623G>C | CA156909033 | GLI3 | c.2404C>G (p.Pro802Ala) c.2230C>G (p.Pro744Ala) n.2381C>G c.2227C>G (p.Pro743Ala) c.2401C>G (p.Pro801Ala) | dbSNP |
7 | g.41967623G= | CA1702661854 | GLI3 | c.2404C= (p.Pro802=) c.2230C= (p.Pro744=) n.2381C= c.2227C= (p.Pro743=) c.2401C= (p.Pro801=) | |
7 | g.41967623G>T | CA367321159 | GLI3 | c.2404C>A (p.Pro802Thr) c.2230C>A (p.Pro744Thr) n.2381C>A c.2227C>A (p.Pro743Thr) c.2401C>A (p.Pro801Thr) | |
7 | g.41967624G>A | CA454663052 | GLI3 | c.2403C>T (p.Ala801=) c.2229C>T (p.Ala743=) n.2380C>T c.2226C>T (p.Ala742=) c.2400C>T (p.Ala800=) | gnomAD v4 |
7 | g.41967624G>C | CA454663053 | GLI3 | c.2403C>G (p.Ala801=) c.2229C>G (p.Ala743=) n.2380C>G c.2226C>G (p.Ala742=) c.2400C>G (p.Ala800=) | dbSNP gnomAD v2 |
7 | g.41967624G= | CA1702661855 | GLI3 | c.2403C= (p.Ala801=) c.2229C= (p.Ala743=) n.2380C= c.2226C= (p.Ala742=) c.2400C= (p.Ala800=) | |
7 | g.41967624G>T | CA454663054 | GLI3 | c.2403C>A (p.Ala801=) c.2229C>A (p.Ala743=) n.2380C>A c.2226C>A (p.Ala742=) c.2400C>A (p.Ala800=) | |
7 | g.41967625G>A | CA367321160 | GLI3 | c.2402C>T (p.Ala801Val) c.2228C>T (p.Ala743Val) n.2379C>T c.2225C>T (p.Ala742Val) c.2399C>T (p.Ala800Val) | |
7 | g.41967625G>C | CA367321161 | GLI3 | c.2402C>G (p.Ala801Gly) c.2228C>G (p.Ala743Gly) n.2379C>G c.2225C>G (p.Ala742Gly) c.2399C>G (p.Ala800Gly) | |
7 | g.41967625G>T | CA367321162 | GLI3 | c.2402C>A (p.Ala801Asp) c.2228C>A (p.Ala743Asp) n.2379C>A c.2225C>A (p.Ala742Asp) c.2399C>A (p.Ala800Asp) | |
7 | g.41967626C>A | CA367321163 | GLI3 | c.2401G>T (p.Ala801Ser) c.2227G>T (p.Ala743Ser) n.2378G>T c.2224G>T (p.Ala742Ser) c.2398G>T (p.Ala800Ser) | |
7 | g.41967626C>G | CA367321164 | GLI3 | c.2401G>C (p.Ala801Pro) c.2227G>C (p.Ala743Pro) n.2378G>C c.2224G>C (p.Ala742Pro) c.2398G>C (p.Ala800Pro) | COSMIC |
7 | g.41967626C>T | CA367321165 | GLI3 | c.2401G>A (p.Ala801Thr) c.2227G>A (p.Ala743Thr) n.2378G>A c.2224G>A (p.Ala742Thr) c.2398G>A (p.Ala800Thr) | |
7 | g.41967627T>A | CA367321166 | GLI3 | c.2400A>T (p.Lys800Asn) c.2226A>T (p.Lys742Asn) n.2377A>T c.2223A>T (p.Lys741Asn) c.2397A>T (p.Lys799Asn) | |
7 | g.41967627T>C | CA156909040 | GLI3 | c.2400A>G (p.Lys800=) c.2226A>G (p.Lys742=) n.2377A>G c.2223A>G (p.Lys741=) c.2397A>G (p.Lys799=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.41967627T>G | CA367321167 | GLI3 | c.2400A>C (p.Lys800Asn) c.2226A>C (p.Lys742Asn) n.2377A>C c.2223A>C (p.Lys741Asn) c.2397A>C (p.Lys799Asn) | |
7 | g.41967627T= | CA1702661856 | GLI3 | c.2400A= (p.Lys800=) c.2226A= (p.Lys742=) n.2377A= c.2223A= (p.Lys741=) c.2397A= (p.Lys799=) | |
7 | g.41967628T>A | CA367321168 | GLI3 | c.2399A>T (p.Lys800Ile) c.2225A>T (p.Lys742Ile) n.2376A>T c.2222A>T (p.Lys741Ile) c.2396A>T (p.Lys799Ile) | |
7 | g.41967628T>C | CA367321169 | GLI3 | c.2399A>G (p.Lys800Arg) c.2225A>G (p.Lys742Arg) n.2376A>G c.2222A>G (p.Lys741Arg) c.2396A>G (p.Lys799Arg) | |
7 | g.41967628T>G | CA367321170 | GLI3 | c.2399A>C (p.Lys800Thr) c.2225A>C (p.Lys742Thr) n.2376A>C c.2222A>C (p.Lys741Thr) c.2396A>C (p.Lys799Thr) | |
7 | g.41967629T>A | CA367321173 | GLI3 | c.2398A>T (p.Lys800Ter) c.2224A>T (p.Lys742Ter) n.2375A>T c.2221A>T (p.Lys741Ter) c.2395A>T (p.Lys799Ter) | |
7 | g.41967629T>C | CA367321172 | GLI3 | c.2398A>G (p.Lys800Glu) c.2224A>G (p.Lys742Glu) n.2375A>G c.2221A>G (p.Lys741Glu) c.2395A>G (p.Lys799Glu) | |
7 | g.41967629T>G | CA367321171 | GLI3 | c.2398A>C (p.Lys800Gln) c.2224A>C (p.Lys742Gln) n.2375A>C c.2221A>C (p.Lys741Gln) c.2395A>C (p.Lys799Gln) | |
7 | g.41967630A= | CA1702661857 | GLI3 | c.2397T= (p.Pro799=) c.2223T= (p.Pro741=) n.2374T= c.2220T= (p.Pro740=) c.2394T= (p.Pro798=) | |
7 | g.41967630A>C | CA4230629 | GLI3 | c.2397T>G (p.Pro799=) c.2223T>G (p.Pro741=) n.2374T>G c.2220T>G (p.Pro740=) c.2394T>G (p.Pro798=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.41967630A>G | CA454663062 | GLI3 | c.2397T>C (p.Pro799=) c.2223T>C (p.Pro741=) n.2374T>C c.2220T>C (p.Pro740=) c.2394T>C (p.Pro798=) | |
7 | g.41967630A>T | CA454663061 | GLI3 | c.2397T>A (p.Pro799=) c.2223T>A (p.Pro741=) n.2374T>A c.2220T>A (p.Pro740=) c.2394T>A (p.Pro798=) | |
7 | g.41967631G>A | CA367321175 | GLI3 | c.2396C>T (p.Pro799Leu) c.2222C>T (p.Pro741Leu) n.2373C>T c.2219C>T (p.Pro740Leu) c.2393C>T (p.Pro798Leu) | |
7 | g.41967631G>C | CA367321174 | GLI3 | c.2396C>G (p.Pro799Arg) c.2222C>G (p.Pro741Arg) n.2373C>G c.2219C>G (p.Pro740Arg) c.2393C>G (p.Pro798Arg) | gnomAD v4 |
7 | g.41967631G>T | CA367321176 | GLI3 | c.2396C>A (p.Pro799His) c.2222C>A (p.Pro741His) n.2373C>A c.2219C>A (p.Pro740His) c.2393C>A (p.Pro798His) | |
7 | g.41967632G>A | CA156909063 | GLI3 | c.2395C>T (p.Pro799Ser) c.2221C>T (p.Pro741Ser) n.2372C>T c.2218C>T (p.Pro740Ser) c.2392C>T (p.Pro798Ser) | ClinVar dbSNP gnomAD v4 |
7 | g.41967632G>C | CA4230630 | GLI3 | c.2395C>G (p.Pro799Ala) c.2221C>G (p.Pro741Ala) n.2372C>G c.2218C>G (p.Pro740Ala) c.2392C>G (p.Pro798Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41967632G= | CA1702661858 | GLI3 | c.2395C= (p.Pro799=) c.2221C= (p.Pro741=) n.2372C= c.2218C= (p.Pro740=) c.2392C= (p.Pro798=) | |
7 | g.41967632G>T | CA367321177 | GLI3 | c.2395C>A (p.Pro799Thr) c.2221C>A (p.Pro741Thr) n.2372C>A c.2218C>A (p.Pro740Thr) c.2392C>A (p.Pro798Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.41967633G>A | CA454663064 | GLI3 | c.2394C>T (p.Pro798=) c.2220C>T (p.Pro740=) n.2371C>T c.2217C>T (p.Pro739=) c.2391C>T (p.Pro797=) | |
7 | g.41967633G>C | CA454663065 | GLI3 | c.2394C>G (p.Pro798=) c.2220C>G (p.Pro740=) n.2371C>G c.2217C>G (p.Pro739=) c.2391C>G (p.Pro797=) | |
7 | g.41967633G= | CA1702661859 | GLI3 | c.2394C= (p.Pro798=) c.2220C= (p.Pro740=) n.2371C= c.2217C= (p.Pro739=) c.2391C= (p.Pro797=) | |
7 | g.41967633G>T | CA454663066 | GLI3 | c.2394C>A (p.Pro798=) c.2220C>A (p.Pro740=) n.2371C>A c.2217C>A (p.Pro739=) c.2391C>A (p.Pro797=) | dbSNP gnomAD v4 |
7 | g.41967634G>A | CA367321178 | GLI3 | c.2393C>T (p.Pro798Leu) c.2219C>T (p.Pro740Leu) n.2370C>T c.2216C>T (p.Pro739Leu) c.2390C>T (p.Pro797Leu) | gnomAD v4 |
7 | g.41967634G>C | CA367321179 | GLI3 | c.2393C>G (p.Pro798Arg) c.2219C>G (p.Pro740Arg) n.2370C>G c.2216C>G (p.Pro739Arg) c.2390C>G (p.Pro797Arg) | dbSNP |
7 | g.41967634G= | CA1702661860 | GLI3 | c.2393C= (p.Pro798=) c.2219C= (p.Pro740=) n.2370C= c.2216C= (p.Pro739=) c.2390C= (p.Pro797=) | |
7 | g.41967634G>T | CA367321180 | GLI3 | c.2393C>A (p.Pro798His) c.2219C>A (p.Pro740His) n.2370C>A c.2216C>A (p.Pro739His) c.2390C>A (p.Pro797His) | |
7 | g.41967635G>A | CA367321181 | GLI3 | c.2392C>T (p.Pro798Ser) c.2218C>T (p.Pro740Ser) n.2369C>T c.2215C>T (p.Pro739Ser) c.2389C>T (p.Pro797Ser) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41967635G>C | CA367321182 | GLI3 | c.2392C>G (p.Pro798Ala) c.2218C>G (p.Pro740Ala) n.2369C>G c.2215C>G (p.Pro739Ala) c.2389C>G (p.Pro797Ala) | |
7 | g.41967635G= | CA1702661861 | GLI3 | c.2392C= (p.Pro798=) c.2218C= (p.Pro740=) n.2369C= c.2215C= (p.Pro739=) c.2389C= (p.Pro797=) | |
7 | g.41967635G>T | CA367321183 | GLI3 | c.2392C>A (p.Pro798Thr) c.2218C>A (p.Pro740Thr) n.2369C>A c.2215C>A (p.Pro739Thr) c.2389C>A (p.Pro797Thr) | |
7 | g.41967636T>A | CA454663070 | GLI3 | c.2391A>T (p.Leu797=) c.2217A>T (p.Leu739=) n.2368A>T c.2214A>T (p.Leu738=) c.2388A>T (p.Leu796=) | |
7 | g.41967636T>C | CA454663068 | GLI3 | c.2391A>G (p.Leu797=) c.2217A>G (p.Leu739=) n.2368A>G c.2214A>G (p.Leu738=) c.2388A>G (p.Leu796=) | |
7 | g.41967636T>G | CA454663069 | GLI3 | c.2391A>C (p.Leu797=) c.2217A>C (p.Leu739=) n.2368A>C c.2214A>C (p.Leu738=) c.2388A>C (p.Leu796=) | |
7 | g.41967637A>C | CA367321184 | GLI3 | c.2390T>G (p.Leu797Arg) c.2216T>G (p.Leu739Arg) n.2367T>G c.2213T>G (p.Leu738Arg) c.2387T>G (p.Leu796Arg) | |
7 | g.41967637A>G | CA367321185 | GLI3 | c.2390T>C (p.Leu797Pro) c.2216T>C (p.Leu739Pro) n.2367T>C c.2213T>C (p.Leu738Pro) c.2387T>C (p.Leu796Pro) | ClinVar |
7 | g.41967637A>T | CA367321186 | GLI3 | c.2390T>A (p.Leu797Gln) c.2216T>A (p.Leu739Gln) n.2367T>A c.2213T>A (p.Leu738Gln) c.2387T>A (p.Leu796Gln) | |
7 | g.41967638G>A | CA454663073 | GLI3 | c.2389C>T (p.Leu797=) c.2215C>T (p.Leu739=) n.2366C>T c.2212C>T (p.Leu738=) c.2386C>T (p.Leu796=) | |
7 | g.41967638G>C | CA367321188 | GLI3 | c.2389C>G (p.Leu797Val) c.2215C>G (p.Leu739Val) n.2366C>G c.2212C>G (p.Leu738Val) c.2386C>G (p.Leu796Val) | gnomAD v4 |
7 | g.41967638G>T | CA367321187 | GLI3 | c.2389C>A (p.Leu797Ile) c.2215C>A (p.Leu739Ile) n.2366C>A c.2212C>A (p.Leu738Ile) c.2386C>A (p.Leu796Ile) | |
7 | g.41967639A>C | CA367321189 | GLI3 | c.2388T>G (p.Ile796Met) c.2214T>G (p.Ile738Met) n.2365T>G c.2211T>G (p.Ile737Met) c.2385T>G (p.Ile795Met) | |
7 | g.41967639A>G | CA454663074 | GLI3 | c.2388T>C (p.Ile796=) c.2214T>C (p.Ile738=) n.2365T>C c.2211T>C (p.Ile737=) c.2385T>C (p.Ile795=) | |
7 | g.41967639A>T | CA454663075 | GLI3 | c.2388T>A (p.Ile796=) c.2214T>A (p.Ile738=) n.2365T>A c.2211T>A (p.Ile737=) c.2385T>A (p.Ile795=) | |
7 | g.41967640del | CA2695207636 | GLI3 | c.2388del (p.Leu797TyrfsTer12) c.2214del (p.Leu739TyrfsTer12) n.2365del c.2211del (p.Leu738TyrfsTer12) c.2385del (p.Leu796TyrfsTer12) | |
7 | g.41967640A= | CA1702661862 | GLI3 | c.2387T= (p.Ile796=) c.2213T= (p.Ile738=) n.2364T= c.2210T= (p.Ile737=) c.2384T= (p.Ile795=) | |
7 | g.41967640A>C | CA367321190 | GLI3 | c.2387T>G (p.Ile796Ser) c.2213T>G (p.Ile738Ser) n.2364T>G c.2210T>G (p.Ile737Ser) c.2384T>G (p.Ile795Ser) | dbSNP |
7 | g.41967640A>G | CA367321191 | GLI3 | c.2387T>C (p.Ile796Thr) c.2213T>C (p.Ile738Thr) n.2364T>C c.2210T>C (p.Ile737Thr) c.2384T>C (p.Ile795Thr) | |
7 | g.41967640A>T | CA367321192 | GLI3 | c.2387T>A (p.Ile796Asn) c.2213T>A (p.Ile738Asn) n.2364T>A c.2210T>A (p.Ile737Asn) c.2384T>A (p.Ile795Asn) | |
7 | g.41967641T>A | CA367321193 | GLI3 | c.2386A>T (p.Ile796Phe) c.2212A>T (p.Ile738Phe) n.2363A>T c.2209A>T (p.Ile737Phe) c.2383A>T (p.Ile795Phe) | |
7 | g.41967641T>C | CA367321194 | GLI3 | c.2386A>G (p.Ile796Val) c.2212A>G (p.Ile738Val) n.2363A>G c.2209A>G (p.Ile737Val) c.2383A>G (p.Ile795Val) | gnomAD v4 |
7 | g.41967641T>G | CA367321195 | GLI3 | c.2386A>C (p.Ile796Leu) c.2212A>C (p.Ile738Leu) n.2363A>C c.2209A>C (p.Ile737Leu) c.2383A>C (p.Ile795Leu) | |
7 | g.41967642G>A | CA454663081 | GLI3 | c.2385C>T (p.Pro795=) c.2211C>T (p.Pro737=) n.2362C>T c.2208C>T (p.Pro736=) c.2382C>T (p.Pro794=) | gnomAD v4 |
7 | g.41967642G>C | CA454663079 | GLI3 | c.2385C>G (p.Pro795=) c.2211C>G (p.Pro737=) n.2362C>G c.2208C>G (p.Pro736=) c.2382C>G (p.Pro794=) | |
7 | g.41967642G>T | CA454663080 | GLI3 | c.2385C>A (p.Pro795=) c.2211C>A (p.Pro737=) n.2362C>A c.2208C>A (p.Pro736=) c.2382C>A (p.Pro794=) | |
7 | g.41967645del | CA2695207637 | GLI3 | c.2385del (p.Ile796PhefsTer13) c.2211del (p.Ile738PhefsTer13) n.2362del c.2208del (p.Ile737PhefsTer13) c.2382del (p.Ile795PhefsTer13) | |
7 | g.41967643G>A | CA367321196 | GLI3 | c.2384C>T (p.Pro795Leu) c.2210C>T (p.Pro737Leu) n.2361C>T c.2207C>T (p.Pro736Leu) c.2381C>T (p.Pro794Leu) | |
7 | g.41967643G>C | CA367321197 | GLI3 | c.2384C>G (p.Pro795Arg) c.2210C>G (p.Pro737Arg) n.2361C>G c.2207C>G (p.Pro736Arg) c.2381C>G (p.Pro794Arg) | |
7 | g.41967643G>T | CA367321198 | GLI3 | c.2384C>A (p.Pro795His) c.2210C>A (p.Pro737His) n.2361C>A c.2207C>A (p.Pro736His) c.2381C>A (p.Pro794His) | |
7 | g.41967644G>A | CA367321199 | GLI3 | c.2383C>T (p.Pro795Ser) c.2209C>T (p.Pro737Ser) n.2360C>T c.2206C>T (p.Pro736Ser) c.2380C>T (p.Pro794Ser) | |
7 | g.41967644G>C | CA367321200 | GLI3 | c.2383C>G (p.Pro795Ala) c.2209C>G (p.Pro737Ala) n.2360C>G c.2206C>G (p.Pro736Ala) c.2380C>G (p.Pro794Ala) | gnomAD v4 COSMIC |
7 | g.41967644G>T | CA367321201 | GLI3 | c.2383C>A (p.Pro795Thr) c.2209C>A (p.Pro737Thr) n.2360C>A c.2206C>A (p.Pro736Thr) c.2380C>A (p.Pro794Thr) | |
7 | g.41967645G>A | CA454663084 | GLI3 | c.2382C>T (p.Asn794=) c.2208C>T (p.Asn736=) n.2359C>T c.2205C>T (p.Asn735=) c.2379C>T (p.Asn793=) | |
7 | g.41967645G>C | CA367321203 | GLI3 | c.2382C>G (p.Asn794Lys) c.2208C>G (p.Asn736Lys) n.2359C>G c.2205C>G (p.Asn735Lys) c.2379C>G (p.Asn793Lys) | |
7 | g.41967645G= | CA1702661863 | GLI3 | c.2382C= (p.Asn794=) c.2208C= (p.Asn736=) n.2359C= c.2205C= (p.Asn735=) c.2379C= (p.Asn793=) | |
7 | g.41967645G>T | CA367321202 | GLI3 | c.2382C>A (p.Asn794Lys) c.2208C>A (p.Asn736Lys) n.2359C>A c.2205C>A (p.Asn735Lys) c.2379C>A (p.Asn793Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.41967646T>A | CA367321204 | GLI3 | c.2381A>T (p.Asn794Ile) c.2207A>T (p.Asn736Ile) n.2358A>T c.2204A>T (p.Asn735Ile) c.2378A>T (p.Asn793Ile) | dbSNP |
7 | g.41967646T>C | CA156909082 | GLI3 | c.2381A>G (p.Asn794Ser) c.2207A>G (p.Asn736Ser) n.2358A>G c.2204A>G (p.Asn735Ser) c.2378A>G (p.Asn793Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.41967646T>G | CA367321205 | GLI3 | c.2381A>C (p.Asn794Thr) c.2207A>C (p.Asn736Thr) n.2358A>C c.2204A>C (p.Asn735Thr) c.2378A>C (p.Asn793Thr) | dbSNP |
7 | g.41967646T= | CA1702661864 | GLI3 | c.2381A= (p.Asn794=) c.2207A= (p.Asn736=) n.2358A= c.2204A= (p.Asn735=) c.2378A= (p.Asn793=) | |
7 | g.41967647T>A | CA367321206 | GLI3 | c.2380A>T (p.Asn794Tyr) c.2206A>T (p.Asn736Tyr) n.2357A>T c.2203A>T (p.Asn735Tyr) c.2377A>T (p.Asn793Tyr) | |
7 | g.41967647T>C | CA367321207 | GLI3 | c.2380A>G (p.Asn794Asp) c.2206A>G (p.Asn736Asp) n.2357A>G c.2203A>G (p.Asn735Asp) c.2377A>G (p.Asn793Asp) | |
7 | g.41967647T>G | CA367321208 | GLI3 | c.2380A>C (p.Asn794His) c.2206A>C (p.Asn736His) n.2357A>C c.2203A>C (p.Asn735His) c.2377A>C (p.Asn793His) | dbSNP |
7 | g.41967648C>A | CA454663089 | GLI3 | c.2379G>T (p.Leu793=) c.2205G>T (p.Leu735=) n.2356G>T c.2202G>T (p.Leu734=) c.2376G>T (p.Leu792=) | dbSNP |
7 | g.41967648C= | CA1702661865 | GLI3 | c.2379G= (p.Leu793=) c.2205G= (p.Leu735=) n.2356G= c.2202G= (p.Leu734=) c.2376G= (p.Leu792=) | |
7 | g.41967648C>G | CA454663091 | GLI3 | c.2379G>C (p.Leu793=) c.2205G>C (p.Leu735=) n.2356G>C c.2202G>C (p.Leu734=) c.2376G>C (p.Leu792=) | dbSNP |
7 | g.41967648C>T | CA454663092 | GLI3 | c.2379G>A (p.Leu793=) c.2205G>A (p.Leu735=) n.2356G>A c.2202G>A (p.Leu734=) c.2376G>A (p.Leu792=) | dbSNP |
7 | g.41967649A>C | CA367321209 | GLI3 | c.2378T>G (p.Leu793Arg) c.2204T>G (p.Leu735Arg) n.2355T>G c.2201T>G (p.Leu734Arg) c.2375T>G (p.Leu792Arg) | |
7 | g.41967649A>G | CA367321210 | GLI3 | c.2378T>C (p.Leu793Pro) c.2204T>C (p.Leu735Pro) n.2355T>C c.2201T>C (p.Leu734Pro) c.2375T>C (p.Leu792Pro) | |
7 | g.41967649A>T | CA367321211 | GLI3 | c.2378T>A (p.Leu793Gln) c.2204T>A (p.Leu735Gln) n.2355T>A c.2201T>A (p.Leu734Gln) c.2375T>A (p.Leu792Gln) | dbSNP |
7 | g.41967650G>A | CA454663096 | GLI3 | c.2377C>T (p.Leu793=) c.2203C>T (p.Leu735=) n.2354C>T c.2200C>T (p.Leu734=) c.2374C>T (p.Leu792=) | dbSNP gnomAD v4 |
7 | g.41967650G>C | CA367321212 | GLI3 | c.2377C>G (p.Leu793Val) c.2203C>G (p.Leu735Val) n.2354C>G c.2200C>G (p.Leu734Val) c.2374C>G (p.Leu792Val) | dbSNP |
7 | g.41967650G>T | CA367321213 | GLI3 | c.2377C>A (p.Leu793Met) c.2203C>A (p.Leu735Met) n.2354C>A c.2200C>A (p.Leu734Met) c.2374C>A (p.Leu792Met) | |
7 | g.41967651T>A | CA454663097 | GLI3 | c.2376A>T (p.Arg792=) c.2202A>T (p.Arg734=) n.2353A>T c.2199A>T (p.Arg733=) c.2373A>T (p.Arg791=) | dbSNP |
7 | g.41967651T>C | CA454663098 | GLI3 | c.2376A>G (p.Arg792=) c.2202A>G (p.Arg734=) n.2353A>G c.2199A>G (p.Arg733=) c.2373A>G (p.Arg791=) | |
7 | g.41967651T>G | CA454663100 | GLI3 | c.2376A>C (p.Arg792=) c.2202A>C (p.Arg734=) n.2353A>C c.2199A>C (p.Arg733=) c.2373A>C (p.Arg791=) | dbSNP |
7 | g.41967652C>A | CA367321214 | GLI3 | c.2375G>T (p.Arg792Leu) c.2201G>T (p.Arg734Leu) n.2352G>T c.2198G>T (p.Arg733Leu) c.2372G>T (p.Arg791Leu) | |
7 | g.41967652C= | CA1702661866 | GLI3 | c.2375G= (p.Arg792=) c.2201G= (p.Arg734=) n.2352G= c.2198G= (p.Arg733=) c.2372G= (p.Arg791=) | |
7 | g.41967652C>G | CA367321215 | GLI3 | c.2375G>C (p.Arg792Pro) c.2201G>C (p.Arg734Pro) n.2352G>C c.2198G>C (p.Arg733Pro) c.2372G>C (p.Arg791Pro) | dbSNP |
7 | g.41967652C>T | CA4230631 | GLI3 | c.2375G>A (p.Arg792Gln) c.2201G>A (p.Arg734Gln) n.2352G>A c.2198G>A (p.Arg733Gln) c.2372G>A (p.Arg791Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41967653G>A | CA256983 | GLI3 | c.2374C>T (p.Arg792Ter) c.2200C>T (p.Arg734Ter) n.2351C>T c.2197C>T (p.Arg733Ter) c.2371C>T (p.Arg791Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.41967653G>C | CA367321216 | GLI3 | c.2374C>G (p.Arg792Gly) c.2200C>G (p.Arg734Gly) n.2351C>G c.2197C>G (p.Arg733Gly) c.2371C>G (p.Arg791Gly) | dbSNP |
7 | g.41967653G= | CA1702661867 | GLI3 | c.2374C= (p.Arg792=) c.2200C= (p.Arg734=) n.2351C= c.2197C= (p.Arg733=) c.2371C= (p.Arg791=) | |
7 | g.41967653G>T | CA454663103 | GLI3 | c.2374C>A (p.Arg792=) c.2200C>A (p.Arg734=) n.2351C>A c.2197C>A (p.Arg733=) c.2371C>A (p.Arg791=) | dbSNP |
7 | g.41967654C>A | CA454663104 | GLI3 | c.2373G>T (p.Pro791=) c.2199G>T (p.Pro733=) n.2350G>T c.2196G>T (p.Pro732=) c.2370G>T (p.Pro790=) | |
7 | g.41967654C= | CA1702661869 | GLI3 | c.2373G= (p.Pro791=) c.2199G= (p.Pro733=) n.2350G= c.2196G= (p.Pro732=) c.2370G= (p.Pro790=) | |
7 | g.41967654C>G | CA454663106 | GLI3 | c.2373G>C (p.Pro791=) c.2199G>C (p.Pro733=) n.2350G>C c.2196G>C (p.Pro732=) c.2370G>C (p.Pro790=) | dbSNP |
7 | g.41967654C>T | CA4230632 | GLI3 | c.2373G>A (p.Pro791=) c.2199G>A (p.Pro733=) n.2350G>A c.2196G>A (p.Pro732=) c.2370G>A (p.Pro790=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41967654_41967655delinsCG | CA1702661868 | GLI3 | c.2372_2373delinsCG (p.Pro791=) c.2198_2199delinsCG (p.Pro733=) n.2349_2350delinsCG c.2195_2196delinsCG (p.Pro732=) c.2369_2370delinsCG (p.Pro790=) | |
7 | g.41967655G>A | CA4230633 | GLI3 | c.2372C>T (p.Pro791Leu) c.2198C>T (p.Pro733Leu) n.2349C>T c.2195C>T (p.Pro732Leu) c.2369C>T (p.Pro790Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.41967655G>C | CA367321217 | GLI3 | c.2372C>G (p.Pro791Arg) c.2198C>G (p.Pro733Arg) n.2349C>G c.2195C>G (p.Pro732Arg) c.2369C>G (p.Pro790Arg) | dbSNP |
7 | g.41967655G= | CA1702661870 | GLI3 | c.2372C= (p.Pro791=) c.2198C= (p.Pro733=) n.2349C= c.2195C= (p.Pro732=) c.2369C= (p.Pro790=) | |
7 | g.41967655G>T | CA367321218 | GLI3 | c.2372C>A (p.Pro791Gln) c.2198C>A (p.Pro733Gln) n.2349C>A c.2195C>A (p.Pro732Gln) c.2369C>A (p.Pro790Gln) | dbSNP |
7 | g.41967656del | CA913186020 | GLI3 | c.2372del (p.Pro791ArgfsTer3) c.2198del (p.Pro733ArgfsTer3) n.2349del c.2195del (p.Pro732ArgfsTer3) c.2369del (p.Pro790ArgfsTer3) | ClinVar dbSNP |
7 | g.41967656G>A | CA367321219 | GLI3 | c.2371C>T (p.Pro791Ser) c.2197C>T (p.Pro733Ser) n.2348C>T c.2194C>T (p.Pro732Ser) c.2368C>T (p.Pro790Ser) | dbSNP |
7 | g.41967656G>C | CA367321220 | GLI3 | c.2371C>G (p.Pro791Ala) c.2197C>G (p.Pro733Ala) n.2348C>G c.2194C>G (p.Pro732Ala) c.2368C>G (p.Pro790Ala) | dbSNP |
7 | g.41967656G>T | CA367321221 | GLI3 | c.2371C>A (p.Pro791Thr) c.2197C>A (p.Pro733Thr) n.2348C>A c.2194C>A (p.Pro732Thr) c.2368C>A (p.Pro790Thr) | |
7 | g.41967657A>C | CA367321222 | GLI3 | c.2370T>G (p.Phe790Leu) c.2196T>G (p.Phe732Leu) n.2347T>G c.2193T>G (p.Phe731Leu) c.2367T>G (p.Phe789Leu) | |
7 | g.41967657A>G | CA454663111 | GLI3 | c.2370T>C (p.Phe790=) c.2196T>C (p.Phe732=) n.2347T>C c.2193T>C (p.Phe731=) c.2367T>C (p.Phe789=) | |
7 | g.41967657A>T | CA367321223 | GLI3 | c.2370T>A (p.Phe790Leu) c.2196T>A (p.Phe732Leu) n.2347T>A c.2193T>A (p.Phe731Leu) c.2367T>A (p.Phe789Leu) | dbSNP |
7 | g.41967658A>C | CA367321224 | GLI3 | c.2369T>G (p.Phe790Cys) c.2195T>G (p.Phe732Cys) n.2346T>G c.2192T>G (p.Phe731Cys) c.2366T>G (p.Phe789Cys) | |
7 | g.41967658A>G | CA367321225 | GLI3 | c.2369T>C (p.Phe790Ser) c.2195T>C (p.Phe732Ser) n.2346T>C c.2192T>C (p.Phe731Ser) c.2366T>C (p.Phe789Ser) | dbSNP |
7 | g.41967658A>T | CA367321226 | GLI3 | c.2369T>A (p.Phe790Tyr) c.2195T>A (p.Phe732Tyr) n.2346T>A c.2192T>A (p.Phe731Tyr) c.2366T>A (p.Phe789Tyr) | dbSNP |
7 | g.41967659A= | CA1702661871 | GLI3 | c.2368T= (p.Phe790=) c.2194T= (p.Phe732=) n.2345T= c.2191T= (p.Phe731=) c.2365T= (p.Phe789=) | |
7 | g.41967659A>C | CA4230634 | GLI3 | c.2368T>G (p.Phe790Val) c.2194T>G (p.Phe732Val) n.2345T>G c.2191T>G (p.Phe731Val) c.2365T>G (p.Phe789Val) | dbSNP ExAC gnomAD v2 |
7 | g.41967659A>G | CA367321228 | GLI3 | c.2368T>C (p.Phe790Leu) c.2194T>C (p.Phe732Leu) n.2345T>C c.2191T>C (p.Phe731Leu) c.2365T>C (p.Phe789Leu) | dbSNP |
7 | g.41967659A>T | CA367321227 | GLI3 | c.2368T>A (p.Phe790Ile) c.2194T>A (p.Phe732Ile) n.2345T>A c.2191T>A (p.Phe731Ile) c.2365T>A (p.Phe789Ile) | dbSNP |
7 | g.41967660C>A | CA367321229 | GLI3 | c.2367G>T (p.Met789Ile) c.2193G>T (p.Met731Ile) n.2344G>T c.2190G>T (p.Met730Ile) c.2364G>T (p.Met788Ile) | dbSNP |
7 | g.41967660C= | CA1702661872 | GLI3 | c.2367G= (p.Met789=) c.2193G= (p.Met731=) n.2344G= c.2190G= (p.Met730=) c.2364G= (p.Met788=) | |
7 | g.41967660C>G | CA367321230 | GLI3 | c.2367G>C (p.Met789Ile) c.2193G>C (p.Met731Ile) n.2344G>C c.2190G>C (p.Met730Ile) c.2364G>C (p.Met788Ile) | dbSNP |
7 | g.41967660C>T | CA4230635 | GLI3 | c.2367G>A (p.Met789Ile) c.2193G>A (p.Met731Ile) n.2344G>A c.2190G>A (p.Met730Ile) c.2364G>A (p.Met788Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41967661A>C | CA367321231 | GLI3 | c.2366T>G (p.Met789Arg) c.2192T>G (p.Met731Arg) n.2343T>G c.2189T>G (p.Met730Arg) c.2363T>G (p.Met788Arg) | gnomAD v4 |
7 | g.41967661A>G | CA367321232 | GLI3 | c.2366T>C (p.Met789Thr) c.2192T>C (p.Met731Thr) n.2343T>C c.2189T>C (p.Met730Thr) c.2363T>C (p.Met788Thr) | dbSNP |
7 | g.41967661A>T | CA367321233 | GLI3 | c.2366T>A (p.Met789Lys) c.2192T>A (p.Met731Lys) n.2343T>A c.2189T>A (p.Met730Lys) c.2363T>A (p.Met788Lys) | COSMIC |
7 | g.41967662T>A | CA367321234 | GLI3 | c.2365A>T (p.Met789Leu) c.2191A>T (p.Met731Leu) n.2342A>T c.2188A>T (p.Met730Leu) c.2362A>T (p.Met788Leu) | |
7 | g.41967662T>C | CA367321235 | GLI3 | c.2365A>G (p.Met789Val) c.2191A>G (p.Met731Val) n.2342A>G c.2188A>G (p.Met730Val) c.2362A>G (p.Met788Val) | |
7 | g.41967662T>G | CA367321236 | GLI3 | c.2365A>C (p.Met789Leu) c.2191A>C (p.Met731Leu) n.2342A>C c.2188A>C (p.Met730Leu) c.2362A>C (p.Met788Leu) | |
7 | g.41967663T>A | CA454663117 | GLI3 | c.2364A>T (p.Gly788=) c.2190A>T (p.Gly730=) n.2341A>T c.2187A>T (p.Gly729=) c.2361A>T (p.Gly787=) | |
7 | g.41967663T>C | CA454663118 | GLI3 | c.2364A>G (p.Gly788=) c.2190A>G (p.Gly730=) n.2341A>G c.2187A>G (p.Gly729=) c.2361A>G (p.Gly787=) | |
7 | g.41967663T>G | CA454663120 | GLI3 | c.2364A>C (p.Gly788=) c.2190A>C (p.Gly730=) n.2341A>C c.2187A>C (p.Gly729=) c.2361A>C (p.Gly787=) | |
7 | g.41967664C>A | CA367321237 | GLI3 | c.2363G>T (p.Gly788Val) c.2189G>T (p.Gly730Val) n.2340G>T c.2186G>T (p.Gly729Val) c.2360G>T (p.Gly787Val) | |
7 | g.41967664C>G | CA367321238 | GLI3 | c.2363G>C (p.Gly788Ala) c.2189G>C (p.Gly730Ala) n.2340G>C c.2186G>C (p.Gly729Ala) c.2360G>C (p.Gly787Ala) | |
7 | g.41967664C>T | CA367321239 | GLI3 | c.2363G>A (p.Gly788Glu) c.2189G>A (p.Gly730Glu) n.2340G>A c.2186G>A (p.Gly729Glu) c.2360G>A (p.Gly787Glu) | |
7 | g.41967665del | CA2714403041 | GLI3 | c.2363del (p.Gly788GlufsTer6) c.2189del (p.Gly730GlufsTer6) n.2340del c.2186del (p.Gly729GlufsTer6) c.2360del (p.Gly787GlufsTer6) | dbSNP |
7 | g.41967665C>A | CA367321242 | GLI3 | c.2362G>T (p.Gly788Ter) c.2188G>T (p.Gly730Ter) n.2339G>T c.2185G>T (p.Gly729Ter) c.2359G>T (p.Gly787Ter) | dbSNP |
7 | g.41967665C= | CA1702661873 | GLI3 | c.2362G= (p.Gly788=) c.2188G= (p.Gly730=) n.2339G= c.2185G= (p.Gly729=) c.2359G= (p.Gly787=) | |
7 | g.41967665C>G | CA367321241 | GLI3 | c.2362G>C (p.Gly788Arg) c.2188G>C (p.Gly730Arg) n.2339G>C c.2185G>C (p.Gly729Arg) c.2359G>C (p.Gly787Arg) | |
7 | g.41967665C>T | CA367321240 | GLI3 | c.2362G>A (p.Gly788Arg) c.2188G>A (p.Gly730Arg) n.2339G>A c.2185G>A (p.Gly729Arg) c.2359G>A (p.Gly787Arg) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41967666A= | CA1702661874 | GLI3 | c.2361T= (p.Asn787=) c.2187T= (p.Asn729=) n.2338T= c.2184T= (p.Asn728=) c.2358T= (p.Asn786=) | |
7 | g.41967666A>C | CA367321243 | GLI3 | c.2361T>G (p.Asn787Lys) c.2187T>G (p.Asn729Lys) n.2338T>G c.2184T>G (p.Asn728Lys) c.2358T>G (p.Asn786Lys) | |
7 | g.41967666A>G | CA4230636 | GLI3 | c.2361T>C (p.Asn787=) c.2187T>C (p.Asn729=) n.2338T>C c.2184T>C (p.Asn728=) c.2358T>C (p.Asn786=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41967666A>T | CA156909134 | GLI3 | c.2361T>A (p.Asn787Lys) c.2187T>A (p.Asn729Lys) n.2338T>A c.2184T>A (p.Asn728Lys) c.2358T>A (p.Asn786Lys) | dbSNP |
7 | g.41967667T>A | CA367321244 | GLI3 | c.2360A>T (p.Asn787Ile) c.2186A>T (p.Asn729Ile) n.2337A>T c.2183A>T (p.Asn728Ile) c.2357A>T (p.Asn786Ile) | |
7 | g.41967667T>C | CA367321245 | GLI3 | c.2360A>G (p.Asn787Ser) c.2186A>G (p.Asn729Ser) n.2337A>G c.2183A>G (p.Asn728Ser) c.2357A>G (p.Asn786Ser) | |
7 | g.41967667T>G | CA367321246 | GLI3 | c.2360A>C (p.Asn787Thr) c.2186A>C (p.Asn729Thr) n.2337A>C c.2183A>C (p.Asn728Thr) c.2357A>C (p.Asn786Thr) | gnomAD v4 |
7 | g.41967668T>A | CA367321247 | GLI3 | c.2359A>T (p.Asn787Tyr) c.2185A>T (p.Asn729Tyr) n.2336A>T c.2182A>T (p.Asn728Tyr) c.2356A>T (p.Asn786Tyr) | |
7 | g.41967668T>C | CA367321248 | GLI3 | c.2359A>G (p.Asn787Asp) c.2185A>G (p.Asn729Asp) n.2336A>G c.2182A>G (p.Asn728Asp) c.2356A>G (p.Asn786Asp) | |
7 | g.41967668T>G | CA367321249 | GLI3 | c.2359A>C (p.Asn787His) c.2185A>C (p.Asn729His) n.2336A>C c.2182A>C (p.Asn728His) c.2356A>C (p.Asn786His) | |
7 | g.41967669del | CA2714403054 | GLI3 | c.2358del (p.Asn787MetfsTer7) c.2184del (p.Asn729MetfsTer7) n.2335del c.2181del (p.Asn728MetfsTer7) c.2355del (p.Asn786MetfsTer7) | dbSNP |
7 | g.41967669C>A | CA454663130 | GLI3 | c.2358G>T (p.Val786=) c.2184G>T (p.Val728=) n.2335G>T c.2181G>T (p.Val727=) c.2355G>T (p.Val785=) | dbSNP |
7 | g.41967669C>G | CA454663132 | GLI3 | c.2358G>C (p.Val786=) c.2184G>C (p.Val728=) n.2335G>C c.2181G>C (p.Val727=) c.2355G>C (p.Val785=) | dbSNP |
7 | g.41967669C>T | CA454663134 | GLI3 | c.2358G>A (p.Val786=) c.2184G>A (p.Val728=) n.2335G>A c.2181G>A (p.Val727=) c.2355G>A (p.Val785=) | dbSNP |
7 | g.41967670A= | CA1702661876 | GLI3 | c.2357T= (p.Val786=) c.2183T= (p.Val728=) n.2334T= c.2180T= (p.Val727=) c.2354T= (p.Val785=) | |
7 | g.41967670A>C | CA367321250 | GLI3 | c.2357T>G (p.Val786Gly) c.2183T>G (p.Val728Gly) n.2334T>G c.2180T>G (p.Val727Gly) c.2354T>G (p.Val785Gly) | |
7 | g.41967670A>G | CA4230637 | GLI3 | c.2357T>C (p.Val786Ala) c.2183T>C (p.Val728Ala) n.2334T>C c.2180T>C (p.Val727Ala) c.2354T>C (p.Val785Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41967670A>T | CA367321251 | GLI3 | c.2357T>A (p.Val786Glu) c.2183T>A (p.Val728Glu) n.2334T>A c.2180T>A (p.Val727Glu) c.2354T>A (p.Val785Glu) | dbSNP |
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.41967671C>A | CA367321253 | GLI3 | c.2356G>T (p.Val786Leu) c.2182G>T (p.Val728Leu) n.2333G>T c.2179G>T (p.Val727Leu) c.2353G>T (p.Val785Leu) | dbSNP |
7 | g.41967671C>G | CA367321254 | GLI3 | c.2356G>C (p.Val786Leu) c.2182G>C (p.Val728Leu) n.2333G>C c.2179G>C (p.Val727Leu) c.2353G>C (p.Val785Leu) | dbSNP |
7 | g.41967671C>T | CA367321252 | GLI3 | c.2356G>A (p.Val786Met) c.2182G>A (p.Val728Met) n.2333G>A c.2179G>A (p.Val727Met) c.2353G>A (p.Val785Met) | |
7 | g.41967671_41967676delinsCTTGTT | CA1702661877 | GLI3 | c.2351_2356delinsAACAAG (p.Lys784=) c.2177_2182delinsAACAAG (p.Lys726=) n.2328_2333delinsAACAAG c.2174_2179delinsAACAAG (p.Lys725=) c.2348_2353delinsAACAAG (p.Lys783=) | |
7 | g.41967674_41967684del | CA342928 | GLI3 | c.2346_2356del (p.Arg782SerfsTer15) c.2172_2182del (p.Arg724SerfsTer15) n.2323_2333del c.2169_2179del (p.Arg723SerfsTer15) c.2343_2353del (p.Arg781SerfsTer15) | dbSNP |
7 | g.41967672T>A | CA367321255 | GLI3 | c.2355A>T (p.Gln785His) c.2181A>T (p.Gln727His) n.2332A>T c.2178A>T (p.Gln726His) c.2352A>T (p.Gln784His) | |
7 | g.41967672T>C | CA454663142 | GLI3 | c.2355A>G (p.Gln785=) c.2181A>G (p.Gln727=) n.2332A>G c.2178A>G (p.Gln726=) c.2352A>G (p.Gln784=) | |
7 | g.41967672T>G | CA367321256 | GLI3 | c.2355A>C (p.Gln785His) c.2181A>C (p.Gln727His) n.2332A>C c.2178A>C (p.Gln726His) c.2352A>C (p.Gln784His) | |
7 | g.41967674_41967678del | CA342929 | GLI3 | c.2351_2355del (p.Lys784SerfsTer15) c.2177_2181del (p.Lys726SerfsTer15) n.2328_2332del c.2174_2178del (p.Lys725SerfsTer15) c.2348_2352del (p.Lys783SerfsTer15) | dbSNP |
7 | g.41967673T>A | CA367321257 | GLI3 | c.2354A>T (p.Gln785Leu) c.2180A>T (p.Gln727Leu) n.2331A>T c.2177A>T (p.Gln726Leu) c.2351A>T (p.Gln784Leu) | |
7 | g.41967673T>C | CA367321258 | GLI3 | c.2354A>G (p.Gln785Arg) c.2180A>G (p.Gln727Arg) n.2331A>G c.2177A>G (p.Gln726Arg) c.2351A>G (p.Gln784Arg) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.41967673T>G | CA367321259 | GLI3 | c.2354A>C (p.Gln785Pro) c.2180A>C (p.Gln727Pro) n.2331A>C c.2177A>C (p.Gln726Pro) c.2351A>C (p.Gln784Pro) | |
7 | g.41967673T= | CA1702661878 | GLI3 | c.2354A= (p.Gln785=) c.2180A= (p.Gln727=) n.2331A= c.2177A= (p.Gln726=) c.2351A= (p.Gln784=) | |
7 | g.41967674G>A | CA367321262 | GLI3 | c.2353C>T (p.Gln785Ter) c.2179C>T (p.Gln727Ter) n.2330C>T c.2176C>T (p.Gln726Ter) c.2350C>T (p.Gln784Ter) | COSMIC |
7 | g.41967674G>C | CA367321260 | GLI3 | c.2353C>G (p.Gln785Glu) c.2179C>G (p.Gln727Glu) n.2330C>G c.2176C>G (p.Gln726Glu) c.2350C>G (p.Gln784Glu) | dbSNP |
7 | g.41967674G>T | CA367321261 | GLI3 | c.2353C>A (p.Gln785Lys) c.2179C>A (p.Gln727Lys) n.2330C>A c.2176C>A (p.Gln726Lys) c.2350C>A (p.Gln784Lys) | |
7 | g.41967675T>A | CA367321263 | GLI3 | c.2352A>T (p.Lys784Asn) c.2178A>T (p.Lys726Asn) n.2329A>T c.2175A>T (p.Lys725Asn) c.2349A>T (p.Lys783Asn) | dbSNP |
7 | g.41967675T>C | CA454663146 | GLI3 | c.2352A>G (p.Lys784=) c.2178A>G (p.Lys726=) n.2329A>G c.2175A>G (p.Lys725=) c.2349A>G (p.Lys783=) | dbSNP |
7 | g.41967675T>G | CA367321264 | GLI3 | c.2352A>C (p.Lys784Asn) c.2178A>C (p.Lys726Asn) n.2329A>C c.2175A>C (p.Lys725Asn) c.2349A>C (p.Lys783Asn) | dbSNP |