Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.41967587A>TCA2682510687GLI3c.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
7g.41967588G=CA1702661838GLI3c.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=)
7g.41967588G>TCA4230616GLI3c.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
7g.41967593C>ACA1100611788GLI3c.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)
7g.41967593C>TCA2682510693GLI3c.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
7g.41967594A>CCA367321107GLI3c.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)
7g.41967594A>GCA367321108GLI3c.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)
7g.41967594A>TCA367321109GLI3c.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)
7g.41967595C>ACA367321110GLI3c.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)
7g.41967595C=CA1702661839GLI3c.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=)
7g.41967595C>GCA367321111GLI3c.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)
7g.41967595C>TCA342930GLI3c.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
7g.41967596C>ACA367321112GLI3c.2431G>T (p.Gly811Cys)
c.2257G>T (p.Gly753Cys)
n.2408G>T
c.2254G>T (p.Gly752Cys)
c.2428G>T (p.Gly810Cys)
7g.41967596C>GCA367321114GLI3c.2431G>C (p.Gly811Arg)
c.2257G>C (p.Gly753Arg)
n.2408G>C
c.2254G>C (p.Gly752Arg)
c.2428G>C (p.Gly810Arg)
7g.41967596C>TCA367321113GLI3c.2431G>A (p.Gly811Ser)
c.2257G>A (p.Gly753Ser)
n.2408G>A
c.2254G>A (p.Gly752Ser)
c.2428G>A (p.Gly810Ser)
7g.41967597A>CCA367321115GLI3c.2430T>G (p.Asn810Lys)
c.2256T>G (p.Asn752Lys)
n.2407T>G
c.2253T>G (p.Asn751Lys)
c.2427T>G (p.Asn809Lys)
7g.41967597A>GCA454662878GLI3c.2430T>C (p.Asn810=)
c.2256T>C (p.Asn752=)
n.2407T>C
c.2253T>C (p.Asn751=)
c.2427T>C (p.Asn809=)
 gnomAD v4
7g.41967597A>TCA367321116GLI3c.2430T>A (p.Asn810Lys)
c.2256T>A (p.Asn752Lys)
n.2407T>A
c.2253T>A (p.Asn751Lys)
c.2427T>A (p.Asn809Lys)
7g.41967598T>ACA367321117GLI3c.2429A>T (p.Asn810Ile)
c.2255A>T (p.Asn752Ile)
n.2406A>T
c.2252A>T (p.Asn751Ile)
c.2426A>T (p.Asn809Ile)
7g.41967598T>CCA156908936GLI3c.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
7g.41967598T>GCA367321118GLI3c.2429A>C (p.Asn810Thr)
c.2255A>C (p.Asn752Thr)
n.2406A>C
c.2252A>C (p.Asn751Thr)
c.2426A>C (p.Asn809Thr)
7g.41967598T=CA1702661840GLI3c.2429A= (p.Asn810=)
c.2255A= (p.Asn752=)
n.2406A=
c.2252A= (p.Asn751=)
c.2426A= (p.Asn809=)
7g.41967599T>ACA367321119GLI3c.2428A>T (p.Asn810Tyr)
c.2254A>T (p.Asn752Tyr)
n.2405A>T
c.2251A>T (p.Asn751Tyr)
c.2425A>T (p.Asn809Tyr)
7g.41967599T>CCA367321120GLI3c.2428A>G (p.Asn810Asp)
c.2254A>G (p.Asn752Asp)
n.2405A>G
c.2251A>G (p.Asn751Asp)
c.2425A>G (p.Asn809Asp)
7g.41967599T>GCA367321121GLI3c.2428A>C (p.Asn810His)
c.2254A>C (p.Asn752His)
n.2405A>C
c.2251A>C (p.Asn751His)
c.2425A>C (p.Asn809His)
7g.41967600T>ACA454662879GLI3c.2427A>T (p.Gly809=)
c.2253A>T (p.Gly751=)
n.2404A>T
c.2250A>T (p.Gly750=)
c.2424A>T (p.Gly808=)
 gnomAD v4
7g.41967600T>CCA454662880GLI3c.2427A>G (p.Gly809=)
c.2253A>G (p.Gly751=)
n.2404A>G
c.2250A>G (p.Gly750=)
c.2424A>G (p.Gly808=)
7g.41967600T>GCA454662881GLI3c.2427A>C (p.Gly809=)
c.2253A>C (p.Gly751=)
n.2404A>C
c.2250A>C (p.Gly750=)
c.2424A>C (p.Gly808=)
7g.41967601C>ACA367321122GLI3c.2426G>T (p.Gly809Val)
c.2252G>T (p.Gly751Val)
n.2403G>T
c.2249G>T (p.Gly750Val)
c.2423G>T (p.Gly808Val)
7g.41967601C>GCA367321123GLI3c.2426G>C (p.Gly809Ala)
c.2252G>C (p.Gly751Ala)
n.2403G>C
c.2249G>C (p.Gly750Ala)
c.2423G>C (p.Gly808Ala)
 gnomAD v4
7g.41967601C>TCA367321124GLI3c.2426G>A (p.Gly809Glu)
c.2252G>A (p.Gly751Glu)
n.2403G>A
c.2249G>A (p.Gly750Glu)
c.2423G>A (p.Gly808Glu)
7g.41967602C>ACA367321126GLI3c.2425G>T (p.Gly809Ter)
c.2251G>T (p.Gly751Ter)
n.2402G>T
c.2248G>T (p.Gly750Ter)
c.2422G>T (p.Gly808Ter)
7g.41967602C>GCA367321127GLI3c.2425G>C (p.Gly809Arg)
c.2251G>C (p.Gly751Arg)
n.2402G>C
c.2248G>C (p.Gly750Arg)
c.2422G>C (p.Gly808Arg)
7g.41967602C>TCA367321125GLI3c.2425G>A (p.Gly809Arg)
c.2251G>A (p.Gly751Arg)
n.2402G>A
c.2248G>A (p.Gly750Arg)
c.2422G>A (p.Gly808Arg)
7g.41967603T>ACA454663024GLI3c.2424A>T (p.Ile808=)
c.2250A>T (p.Ile750=)
n.2401A>T
c.2247A>T (p.Ile749=)
c.2421A>T (p.Ile807=)
7g.41967603T>CCA4230617GLI3c.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
7g.41967603T>GCA454663025GLI3c.2424A>C (p.Ile808=)
c.2250A>C (p.Ile750=)
n.2401A>C
c.2247A>C (p.Ile749=)
c.2421A>C (p.Ile807=)
7g.41967603T=CA1702661841GLI3c.2424A= (p.Ile808=)
c.2250A= (p.Ile750=)
n.2401A=
c.2247A= (p.Ile749=)
c.2421A= (p.Ile807=)
7g.41967604A=CA1702661842GLI3c.2423T= (p.Ile808=)
c.2249T= (p.Ile750=)
n.2400T=
c.2246T= (p.Ile749=)
c.2420T= (p.Ile807=)
7g.41967604A>CCA367321128GLI3c.2423T>G (p.Ile808Arg)
c.2249T>G (p.Ile750Arg)
n.2400T>G
c.2246T>G (p.Ile749Arg)
c.2420T>G (p.Ile807Arg)
7g.41967604A>GCA156908938GLI3c.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
7g.41967604A>TCA367321129GLI3c.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
7g.41967605T>ACA367321130GLI3c.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
7g.41967605T>CCA4230618GLI3c.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
7g.41967605T>GCA367321131GLI3c.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
7g.41967605T=CA1702661843GLI3c.2422A= (p.Ile808=)
c.2248A= (p.Ile750=)
n.2399A=
c.2245A= (p.Ile749=)
c.2419A= (p.Ile807=)
7g.41967606G>ACA454663026GLI3c.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
7g.41967606G>CCA454663027GLI3c.2421C>G (p.Leu807=)
c.2247C>G (p.Leu749=)
n.2398C>G
c.2244C>G (p.Leu748=)
c.2418C>G (p.Leu806=)
7g.41967606G=CA1702661844GLI3c.2421C= (p.Leu807=)
c.2247C= (p.Leu749=)
n.2398C=
c.2244C= (p.Leu748=)
c.2418C= (p.Leu806=)
7g.41967606G>TCA454663028GLI3c.2421C>A (p.Leu807=)
c.2247C>A (p.Leu749=)
n.2398C>A
c.2244C>A (p.Leu748=)
c.2418C>A (p.Leu806=)
7g.41967607A>CCA367321132GLI3c.2420T>G (p.Leu807Arg)
c.2246T>G (p.Leu749Arg)
n.2397T>G
c.2243T>G (p.Leu748Arg)
c.2417T>G (p.Leu806Arg)
7g.41967607A>GCA367321133GLI3c.2420T>C (p.Leu807Pro)
c.2246T>C (p.Leu749Pro)
n.2397T>C
c.2243T>C (p.Leu748Pro)
c.2417T>C (p.Leu806Pro)
7g.41967607A>TCA367321134GLI3c.2420T>A (p.Leu807His)
c.2246T>A (p.Leu749His)
n.2397T>A
c.2243T>A (p.Leu748His)
c.2417T>A (p.Leu806His)
7g.41967608G>ACA10588426GLI3c.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
7g.41967608G>CCA367321135GLI3c.2419C>G (p.Leu807Val)
c.2245C>G (p.Leu749Val)
n.2396C>G
c.2242C>G (p.Leu748Val)
c.2416C>G (p.Leu806Val)
 gnomAD v4
7g.41967608G=CA1702661845GLI3c.2419C= (p.Leu807=)
c.2245C= (p.Leu749=)
n.2396C=
c.2242C= (p.Leu748=)
c.2416C= (p.Leu806=)
7g.41967608G>TCA367321136GLI3c.2419C>A (p.Leu807Ile)
c.2245C>A (p.Leu749Ile)
n.2396C>A
c.2242C>A (p.Leu748Ile)
c.2416C>A (p.Leu806Ile)
7g.41967609A=CA1702661846GLI3c.2418T= (p.Pro806=)
c.2244T= (p.Pro748=)
n.2395T=
c.2241T= (p.Pro747=)
c.2415T= (p.Pro805=)
7g.41967609A>CCA4230619GLI3c.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
7g.41967609A>GCA454663030GLI3c.2418T>C (p.Pro806=)
c.2244T>C (p.Pro748=)
n.2395T>C
c.2241T>C (p.Pro747=)
c.2415T>C (p.Pro805=)
 gnomAD v4
7g.41967609A>TCA454663029GLI3c.2418T>A (p.Pro806=)
c.2244T>A (p.Pro748=)
n.2395T>A
c.2241T>A (p.Pro747=)
c.2415T>A (p.Pro805=)
7g.41967610G>ACA4230620GLI3c.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
7g.41967610G>CCA367321137GLI3c.2417C>G (p.Pro806Arg)
c.2243C>G (p.Pro748Arg)
n.2394C>G
c.2240C>G (p.Pro747Arg)
c.2414C>G (p.Pro805Arg)
7g.41967610G=CA1702661847GLI3c.2417C= (p.Pro806=)
c.2243C= (p.Pro748=)
n.2394C=
c.2240C= (p.Pro747=)
c.2414C= (p.Pro805=)
7g.41967610G>TCA4230621GLI3c.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
7g.41967611G>ACA156908962GLI3c.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
7g.41967611G>CCA367321138GLI3c.2416C>G (p.Pro806Ala)
c.2242C>G (p.Pro748Ala)
n.2393C>G
c.2239C>G (p.Pro747Ala)
c.2413C>G (p.Pro805Ala)
7g.41967611G=CA1702661848GLI3c.2416C= (p.Pro806=)
c.2242C= (p.Pro748=)
n.2393C=
c.2239C= (p.Pro747=)
c.2413C= (p.Pro805=)
7g.41967611G>TCA367321139GLI3c.2416C>A (p.Pro806Thr)
c.2242C>A (p.Pro748Thr)
n.2393C>A
c.2239C>A (p.Pro747Thr)
c.2413C>A (p.Pro805Thr)
7g.41967612A>CCA454663035GLI3c.2415T>G (p.Ser805=)
c.2241T>G (p.Ser747=)
n.2392T>G
c.2238T>G (p.Ser746=)
c.2412T>G (p.Ser804=)
7g.41967612A>GCA454663034GLI3c.2415T>C (p.Ser805=)
c.2241T>C (p.Ser747=)
n.2392T>C
c.2238T>C (p.Ser746=)
c.2412T>C (p.Ser804=)
 gnomAD v4
7g.41967612A>TCA454663033GLI3c.2415T>A (p.Ser805=)
c.2241T>A (p.Ser747=)
n.2392T>A
c.2238T>A (p.Ser746=)
c.2412T>A (p.Ser804=)
7g.41967613G>ACA367321140GLI3c.2414C>T (p.Ser805Phe)
c.2240C>T (p.Ser747Phe)
n.2391C>T
c.2237C>T (p.Ser746Phe)
c.2411C>T (p.Ser804Phe)
 gnomAD v4
7g.41967613G>CCA367321141GLI3c.2414C>G (p.Ser805Cys)
c.2240C>G (p.Ser747Cys)
n.2391C>G
c.2237C>G (p.Ser746Cys)
c.2411C>G (p.Ser804Cys)
7g.41967613G>TCA367321142GLI3c.2414C>A (p.Ser805Tyr)
c.2240C>A (p.Ser747Tyr)
n.2391C>A
c.2237C>A (p.Ser746Tyr)
c.2411C>A (p.Ser804Tyr)
7g.41967614A>CCA367321143GLI3c.2413T>G (p.Ser805Ala)
c.2239T>G (p.Ser747Ala)
n.2390T>G
c.2236T>G (p.Ser746Ala)
c.2410T>G (p.Ser804Ala)
 gnomAD v4
7g.41967614A>GCA367321144GLI3c.2413T>C (p.Ser805Pro)
c.2239T>C (p.Ser747Pro)
n.2390T>C
c.2236T>C (p.Ser746Pro)
c.2410T>C (p.Ser804Pro)
7g.41967614A>TCA367321145GLI3c.2413T>A (p.Ser805Thr)
c.2239T>A (p.Ser747Thr)
n.2390T>A
c.2236T>A (p.Ser746Thr)
c.2410T>A (p.Ser804Thr)
7g.41967615G>ACA4230622GLI3c.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
7g.41967615G>CCA4230623GLI3c.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
7g.41967615G=CA1702661849GLI3c.2412C= (p.Val804=)
c.2238C= (p.Val746=)
n.2389C=
c.2235C= (p.Val745=)
c.2409C= (p.Val803=)
7g.41967615G>TCA454663038GLI3c.2412C>A (p.Val804=)
c.2238C>A (p.Val746=)
n.2389C>A
c.2235C>A (p.Val745=)
c.2409C>A (p.Val803=)
7g.41967616A>CCA367321147GLI3c.2411T>G (p.Val804Gly)
c.2237T>G (p.Val746Gly)
n.2388T>G
c.2234T>G (p.Val745Gly)
c.2408T>G (p.Val803Gly)
7g.41967616A>GCA367321148GLI3c.2411T>C (p.Val804Ala)
c.2237T>C (p.Val746Ala)
n.2388T>C
c.2234T>C (p.Val745Ala)
c.2408T>C (p.Val803Ala)
7g.41967616A>TCA367321146GLI3c.2411T>A (p.Val804Asp)
c.2237T>A (p.Val746Asp)
n.2388T>A
c.2234T>A (p.Val745Asp)
c.2408T>A (p.Val803Asp)
7g.41967617C>ACA367321149GLI3c.2410G>T (p.Val804Phe)
c.2236G>T (p.Val746Phe)
n.2387G>T
c.2233G>T (p.Val745Phe)
c.2407G>T (p.Val803Phe)
7g.41967617C>GCA367321150GLI3c.2410G>C (p.Val804Leu)
c.2236G>C (p.Val746Leu)
n.2387G>C
c.2233G>C (p.Val745Leu)
c.2407G>C (p.Val803Leu)
 gnomAD v4
7g.41967617C>TCA367321151GLI3c.2410G>A (p.Val804Ile)
c.2236G>A (p.Val746Ile)
n.2387G>A
c.2233G>A (p.Val745Ile)
c.2407G>A (p.Val803Ile)
 gnomAD v4
7g.41967618C>ACA454663040GLI3c.2409G>T (p.Ala803=)
c.2235G>T (p.Ala745=)
n.2386G>T
c.2232G>T (p.Ala744=)
c.2406G>T (p.Ala802=)
 gnomAD v4
7g.41967618C=CA1702661850GLI3c.2409G= (p.Ala803=)
c.2235G= (p.Ala745=)
n.2386G=
c.2232G= (p.Ala744=)
c.2406G= (p.Ala802=)
7g.41967618C>GCA454663041GLI3c.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
7g.41967618C>TCA4230624GLI3c.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
7g.41967619G>ACA4230625GLI3c.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
7g.41967619G>CCA367321152GLI3c.2408C>G (p.Ala803Gly)
c.2234C>G (p.Ala745Gly)
n.2385C>G
c.2231C>G (p.Ala744Gly)
c.2405C>G (p.Ala802Gly)
7g.41967619G=CA1702661851GLI3c.2408C= (p.Ala803=)
c.2234C= (p.Ala745=)
n.2385C=
c.2231C= (p.Ala744=)
c.2405C= (p.Ala802=)
7g.41967619G>TCA367321153GLI3c.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
7g.41967620C>ACA4230627GLI3c.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
7g.41967620C=CA1702661852GLI3c.2407G= (p.Ala803=)
c.2233G= (p.Ala745=)
n.2384G=
c.2230G= (p.Ala744=)
c.2404G= (p.Ala802=)
7g.41967620C>GCA4230626GLI3c.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
7g.41967620C>TCA367321154GLI3c.2407G>A (p.Ala803Thr)
c.2233G>A (p.Ala745Thr)
n.2384G>A
c.2230G>A (p.Ala744Thr)
c.2404G>A (p.Ala802Thr)
7g.41967621A=CA1702661853GLI3c.2406T= (p.Pro802=)
c.2232T= (p.Pro744=)
n.2383T=
c.2229T= (p.Pro743=)
c.2403T= (p.Pro801=)
7g.41967621A>CCA4230628GLI3c.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
7g.41967621A>GCA454663045GLI3c.2406T>C (p.Pro802=)
c.2232T>C (p.Pro744=)
n.2383T>C
c.2229T>C (p.Pro743=)
c.2403T>C (p.Pro801=)
7g.41967621A>TCA454663046GLI3c.2406T>A (p.Pro802=)
c.2232T>A (p.Pro744=)
n.2383T>A
c.2229T>A (p.Pro743=)
c.2403T>A (p.Pro801=)
7g.41967622G>ACA367321155GLI3c.2405C>T (p.Pro802Leu)
c.2231C>T (p.Pro744Leu)
n.2382C>T
c.2228C>T (p.Pro743Leu)
c.2402C>T (p.Pro801Leu)
 gnomAD v4
7g.41967622G>CCA367321156GLI3c.2405C>G (p.Pro802Arg)
c.2231C>G (p.Pro744Arg)
n.2382C>G
c.2228C>G (p.Pro743Arg)
c.2402C>G (p.Pro801Arg)
7g.41967622G>TCA367321157GLI3c.2405C>A (p.Pro802His)
c.2231C>A (p.Pro744His)
n.2382C>A
c.2228C>A (p.Pro743His)
c.2402C>A (p.Pro801His)
7g.41967623G>ACA367321158GLI3c.2404C>T (p.Pro802Ser)
c.2230C>T (p.Pro744Ser)
n.2381C>T
c.2227C>T (p.Pro743Ser)
c.2401C>T (p.Pro801Ser)
7g.41967623G>CCA156909033GLI3c.2404C>G (p.Pro802Ala)
c.2230C>G (p.Pro744Ala)
n.2381C>G
c.2227C>G (p.Pro743Ala)
c.2401C>G (p.Pro801Ala)
 dbSNP
7g.41967623G=CA1702661854GLI3c.2404C= (p.Pro802=)
c.2230C= (p.Pro744=)
n.2381C=
c.2227C= (p.Pro743=)
c.2401C= (p.Pro801=)
7g.41967623G>TCA367321159GLI3c.2404C>A (p.Pro802Thr)
c.2230C>A (p.Pro744Thr)
n.2381C>A
c.2227C>A (p.Pro743Thr)
c.2401C>A (p.Pro801Thr)
7g.41967624G>ACA454663052GLI3c.2403C>T (p.Ala801=)
c.2229C>T (p.Ala743=)
n.2380C>T
c.2226C>T (p.Ala742=)
c.2400C>T (p.Ala800=)
 gnomAD v4
7g.41967624G>CCA454663053GLI3c.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
7g.41967624G=CA1702661855GLI3c.2403C= (p.Ala801=)
c.2229C= (p.Ala743=)
n.2380C=
c.2226C= (p.Ala742=)
c.2400C= (p.Ala800=)
7g.41967624G>TCA454663054GLI3c.2403C>A (p.Ala801=)
c.2229C>A (p.Ala743=)
n.2380C>A
c.2226C>A (p.Ala742=)
c.2400C>A (p.Ala800=)
7g.41967625G>ACA367321160GLI3c.2402C>T (p.Ala801Val)
c.2228C>T (p.Ala743Val)
n.2379C>T
c.2225C>T (p.Ala742Val)
c.2399C>T (p.Ala800Val)
7g.41967625G>CCA367321161GLI3c.2402C>G (p.Ala801Gly)
c.2228C>G (p.Ala743Gly)
n.2379C>G
c.2225C>G (p.Ala742Gly)
c.2399C>G (p.Ala800Gly)
7g.41967625G>TCA367321162GLI3c.2402C>A (p.Ala801Asp)
c.2228C>A (p.Ala743Asp)
n.2379C>A
c.2225C>A (p.Ala742Asp)
c.2399C>A (p.Ala800Asp)
7g.41967626C>ACA367321163GLI3c.2401G>T (p.Ala801Ser)
c.2227G>T (p.Ala743Ser)
n.2378G>T
c.2224G>T (p.Ala742Ser)
c.2398G>T (p.Ala800Ser)
7g.41967626C>GCA367321164GLI3c.2401G>C (p.Ala801Pro)
c.2227G>C (p.Ala743Pro)
n.2378G>C
c.2224G>C (p.Ala742Pro)
c.2398G>C (p.Ala800Pro)
 COSMIC
7g.41967626C>TCA367321165GLI3c.2401G>A (p.Ala801Thr)
c.2227G>A (p.Ala743Thr)
n.2378G>A
c.2224G>A (p.Ala742Thr)
c.2398G>A (p.Ala800Thr)
7g.41967627T>ACA367321166GLI3c.2400A>T (p.Lys800Asn)
c.2226A>T (p.Lys742Asn)
n.2377A>T
c.2223A>T (p.Lys741Asn)
c.2397A>T (p.Lys799Asn)
7g.41967627T>CCA156909040GLI3c.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
7g.41967627T>GCA367321167GLI3c.2400A>C (p.Lys800Asn)
c.2226A>C (p.Lys742Asn)
n.2377A>C
c.2223A>C (p.Lys741Asn)
c.2397A>C (p.Lys799Asn)
7g.41967627T=CA1702661856GLI3c.2400A= (p.Lys800=)
c.2226A= (p.Lys742=)
n.2377A=
c.2223A= (p.Lys741=)
c.2397A= (p.Lys799=)
7g.41967628T>ACA367321168GLI3c.2399A>T (p.Lys800Ile)
c.2225A>T (p.Lys742Ile)
n.2376A>T
c.2222A>T (p.Lys741Ile)
c.2396A>T (p.Lys799Ile)
7g.41967628T>CCA367321169GLI3c.2399A>G (p.Lys800Arg)
c.2225A>G (p.Lys742Arg)
n.2376A>G
c.2222A>G (p.Lys741Arg)
c.2396A>G (p.Lys799Arg)
7g.41967628T>GCA367321170GLI3c.2399A>C (p.Lys800Thr)
c.2225A>C (p.Lys742Thr)
n.2376A>C
c.2222A>C (p.Lys741Thr)
c.2396A>C (p.Lys799Thr)
7g.41967629T>ACA367321173GLI3c.2398A>T (p.Lys800Ter)
c.2224A>T (p.Lys742Ter)
n.2375A>T
c.2221A>T (p.Lys741Ter)
c.2395A>T (p.Lys799Ter)
7g.41967629T>CCA367321172GLI3c.2398A>G (p.Lys800Glu)
c.2224A>G (p.Lys742Glu)
n.2375A>G
c.2221A>G (p.Lys741Glu)
c.2395A>G (p.Lys799Glu)
7g.41967629T>GCA367321171GLI3c.2398A>C (p.Lys800Gln)
c.2224A>C (p.Lys742Gln)
n.2375A>C
c.2221A>C (p.Lys741Gln)
c.2395A>C (p.Lys799Gln)
7g.41967630A=CA1702661857GLI3c.2397T= (p.Pro799=)
c.2223T= (p.Pro741=)
n.2374T=
c.2220T= (p.Pro740=)
c.2394T= (p.Pro798=)
7g.41967630A>CCA4230629GLI3c.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
7g.41967630A>GCA454663062GLI3c.2397T>C (p.Pro799=)
c.2223T>C (p.Pro741=)
n.2374T>C
c.2220T>C (p.Pro740=)
c.2394T>C (p.Pro798=)
7g.41967630A>TCA454663061GLI3c.2397T>A (p.Pro799=)
c.2223T>A (p.Pro741=)
n.2374T>A
c.2220T>A (p.Pro740=)
c.2394T>A (p.Pro798=)
7g.41967631G>ACA367321175GLI3c.2396C>T (p.Pro799Leu)
c.2222C>T (p.Pro741Leu)
n.2373C>T
c.2219C>T (p.Pro740Leu)
c.2393C>T (p.Pro798Leu)
7g.41967631G>CCA367321174GLI3c.2396C>G (p.Pro799Arg)
c.2222C>G (p.Pro741Arg)
n.2373C>G
c.2219C>G (p.Pro740Arg)
c.2393C>G (p.Pro798Arg)
 gnomAD v4
7g.41967631G>TCA367321176GLI3c.2396C>A (p.Pro799His)
c.2222C>A (p.Pro741His)
n.2373C>A
c.2219C>A (p.Pro740His)
c.2393C>A (p.Pro798His)
7g.41967632G>ACA156909063GLI3c.2395C>T (p.Pro799Ser)
c.2221C>T (p.Pro741Ser)
n.2372C>T
c.2218C>T (p.Pro740Ser)
c.2392C>T (p.Pro798Ser)
 dbSNP gnomAD v4
7g.41967632G>CCA4230630GLI3c.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
7g.41967632G=CA1702661858GLI3c.2395C= (p.Pro799=)
c.2221C= (p.Pro741=)
n.2372C=
c.2218C= (p.Pro740=)
c.2392C= (p.Pro798=)
7g.41967632G>TCA367321177GLI3c.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
7g.41967633G>ACA454663064GLI3c.2394C>T (p.Pro798=)
c.2220C>T (p.Pro740=)
n.2371C>T
c.2217C>T (p.Pro739=)
c.2391C>T (p.Pro797=)
7g.41967633G>CCA454663065GLI3c.2394C>G (p.Pro798=)
c.2220C>G (p.Pro740=)
n.2371C>G
c.2217C>G (p.Pro739=)
c.2391C>G (p.Pro797=)
7g.41967633G=CA1702661859GLI3c.2394C= (p.Pro798=)
c.2220C= (p.Pro740=)
n.2371C=
c.2217C= (p.Pro739=)
c.2391C= (p.Pro797=)
7g.41967633G>TCA454663066GLI3c.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
7g.41967634G>ACA367321178GLI3c.2393C>T (p.Pro798Leu)
c.2219C>T (p.Pro740Leu)
n.2370C>T
c.2216C>T (p.Pro739Leu)
c.2390C>T (p.Pro797Leu)
 gnomAD v4
7g.41967634G>CCA367321179GLI3c.2393C>G (p.Pro798Arg)
c.2219C>G (p.Pro740Arg)
n.2370C>G
c.2216C>G (p.Pro739Arg)
c.2390C>G (p.Pro797Arg)
 dbSNP
7g.41967634G=CA1702661860GLI3c.2393C= (p.Pro798=)
c.2219C= (p.Pro740=)
n.2370C=
c.2216C= (p.Pro739=)
c.2390C= (p.Pro797=)
7g.41967634G>TCA367321180GLI3c.2393C>A (p.Pro798His)
c.2219C>A (p.Pro740His)
n.2370C>A
c.2216C>A (p.Pro739His)
c.2390C>A (p.Pro797His)
7g.41967635G>ACA367321181GLI3c.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
7g.41967635G>CCA367321182GLI3c.2392C>G (p.Pro798Ala)
c.2218C>G (p.Pro740Ala)
n.2369C>G
c.2215C>G (p.Pro739Ala)
c.2389C>G (p.Pro797Ala)
7g.41967635G=CA1702661861GLI3c.2392C= (p.Pro798=)
c.2218C= (p.Pro740=)
n.2369C=
c.2215C= (p.Pro739=)
c.2389C= (p.Pro797=)
7g.41967635G>TCA367321183GLI3c.2392C>A (p.Pro798Thr)
c.2218C>A (p.Pro740Thr)
n.2369C>A
c.2215C>A (p.Pro739Thr)
c.2389C>A (p.Pro797Thr)
7g.41967636T>ACA454663070GLI3c.2391A>T (p.Leu797=)
c.2217A>T (p.Leu739=)
n.2368A>T
c.2214A>T (p.Leu738=)
c.2388A>T (p.Leu796=)
7g.41967636T>CCA454663068GLI3c.2391A>G (p.Leu797=)
c.2217A>G (p.Leu739=)
n.2368A>G
c.2214A>G (p.Leu738=)
c.2388A>G (p.Leu796=)
7g.41967636T>GCA454663069GLI3c.2391A>C (p.Leu797=)
c.2217A>C (p.Leu739=)
n.2368A>C
c.2214A>C (p.Leu738=)
c.2388A>C (p.Leu796=)
7g.41967637A>CCA367321184GLI3c.2390T>G (p.Leu797Arg)
c.2216T>G (p.Leu739Arg)
n.2367T>G
c.2213T>G (p.Leu738Arg)
c.2387T>G (p.Leu796Arg)
7g.41967637A>GCA367321185GLI3c.2390T>C (p.Leu797Pro)
c.2216T>C (p.Leu739Pro)
n.2367T>C
c.2213T>C (p.Leu738Pro)
c.2387T>C (p.Leu796Pro)
 ClinVar
7g.41967637A>TCA367321186GLI3c.2390T>A (p.Leu797Gln)
c.2216T>A (p.Leu739Gln)
n.2367T>A
c.2213T>A (p.Leu738Gln)
c.2387T>A (p.Leu796Gln)
7g.41967638G>ACA454663073GLI3c.2389C>T (p.Leu797=)
c.2215C>T (p.Leu739=)
n.2366C>T
c.2212C>T (p.Leu738=)
c.2386C>T (p.Leu796=)
7g.41967638G>CCA367321188GLI3c.2389C>G (p.Leu797Val)
c.2215C>G (p.Leu739Val)
n.2366C>G
c.2212C>G (p.Leu738Val)
c.2386C>G (p.Leu796Val)
 gnomAD v4
7g.41967638G>TCA367321187GLI3c.2389C>A (p.Leu797Ile)
c.2215C>A (p.Leu739Ile)
n.2366C>A
c.2212C>A (p.Leu738Ile)
c.2386C>A (p.Leu796Ile)
7g.41967639A>CCA367321189GLI3c.2388T>G (p.Ile796Met)
c.2214T>G (p.Ile738Met)
n.2365T>G
c.2211T>G (p.Ile737Met)
c.2385T>G (p.Ile795Met)
7g.41967639A>GCA454663074GLI3c.2388T>C (p.Ile796=)
c.2214T>C (p.Ile738=)
n.2365T>C
c.2211T>C (p.Ile737=)
c.2385T>C (p.Ile795=)
7g.41967639A>TCA454663075GLI3c.2388T>A (p.Ile796=)
c.2214T>A (p.Ile738=)
n.2365T>A
c.2211T>A (p.Ile737=)
c.2385T>A (p.Ile795=)
7g.41967640delCA2695207636GLI3c.2388del (p.Leu797TyrfsTer12)
c.2214del (p.Leu739TyrfsTer12)
n.2365del
c.2211del (p.Leu738TyrfsTer12)
c.2385del (p.Leu796TyrfsTer12)
7g.41967640A=CA1702661862GLI3c.2387T= (p.Ile796=)
c.2213T= (p.Ile738=)
n.2364T=
c.2210T= (p.Ile737=)
c.2384T= (p.Ile795=)
7g.41967640A>CCA367321190GLI3c.2387T>G (p.Ile796Ser)
c.2213T>G (p.Ile738Ser)
n.2364T>G
c.2210T>G (p.Ile737Ser)
c.2384T>G (p.Ile795Ser)
 dbSNP
7g.41967640A>GCA367321191GLI3c.2387T>C (p.Ile796Thr)
c.2213T>C (p.Ile738Thr)
n.2364T>C
c.2210T>C (p.Ile737Thr)
c.2384T>C (p.Ile795Thr)
7g.41967640A>TCA367321192GLI3c.2387T>A (p.Ile796Asn)
c.2213T>A (p.Ile738Asn)
n.2364T>A
c.2210T>A (p.Ile737Asn)
c.2384T>A (p.Ile795Asn)
7g.41967641T>ACA367321193GLI3c.2386A>T (p.Ile796Phe)
c.2212A>T (p.Ile738Phe)
n.2363A>T
c.2209A>T (p.Ile737Phe)
c.2383A>T (p.Ile795Phe)
7g.41967641T>CCA367321194GLI3c.2386A>G (p.Ile796Val)
c.2212A>G (p.Ile738Val)
n.2363A>G
c.2209A>G (p.Ile737Val)
c.2383A>G (p.Ile795Val)
 gnomAD v4
7g.41967641T>GCA367321195GLI3c.2386A>C (p.Ile796Leu)
c.2212A>C (p.Ile738Leu)
n.2363A>C
c.2209A>C (p.Ile737Leu)
c.2383A>C (p.Ile795Leu)
7g.41967642G>ACA454663081GLI3c.2385C>T (p.Pro795=)
c.2211C>T (p.Pro737=)
n.2362C>T
c.2208C>T (p.Pro736=)
c.2382C>T (p.Pro794=)
 gnomAD v4
7g.41967642G>CCA454663079GLI3c.2385C>G (p.Pro795=)
c.2211C>G (p.Pro737=)
n.2362C>G
c.2208C>G (p.Pro736=)
c.2382C>G (p.Pro794=)
7g.41967642G>TCA454663080GLI3c.2385C>A (p.Pro795=)
c.2211C>A (p.Pro737=)
n.2362C>A
c.2208C>A (p.Pro736=)
c.2382C>A (p.Pro794=)
7g.41967645delCA2695207637GLI3c.2385del (p.Ile796PhefsTer13)
c.2211del (p.Ile738PhefsTer13)
n.2362del
c.2208del (p.Ile737PhefsTer13)
c.2382del (p.Ile795PhefsTer13)
7g.41967643G>ACA367321196GLI3c.2384C>T (p.Pro795Leu)
c.2210C>T (p.Pro737Leu)
n.2361C>T
c.2207C>T (p.Pro736Leu)
c.2381C>T (p.Pro794Leu)
7g.41967643G>CCA367321197GLI3c.2384C>G (p.Pro795Arg)
c.2210C>G (p.Pro737Arg)
n.2361C>G
c.2207C>G (p.Pro736Arg)
c.2381C>G (p.Pro794Arg)
7g.41967643G>TCA367321198GLI3c.2384C>A (p.Pro795His)
c.2210C>A (p.Pro737His)
n.2361C>A
c.2207C>A (p.Pro736His)
c.2381C>A (p.Pro794His)
7g.41967644G>ACA367321199GLI3c.2383C>T (p.Pro795Ser)
c.2209C>T (p.Pro737Ser)
n.2360C>T
c.2206C>T (p.Pro736Ser)
c.2380C>T (p.Pro794Ser)
7g.41967644G>CCA367321200GLI3c.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
7g.41967644G>TCA367321201GLI3c.2383C>A (p.Pro795Thr)
c.2209C>A (p.Pro737Thr)
n.2360C>A
c.2206C>A (p.Pro736Thr)
c.2380C>A (p.Pro794Thr)
7g.41967645G>ACA454663084GLI3c.2382C>T (p.Asn794=)
c.2208C>T (p.Asn736=)
n.2359C>T
c.2205C>T (p.Asn735=)
c.2379C>T (p.Asn793=)
7g.41967645G>CCA367321203GLI3c.2382C>G (p.Asn794Lys)
c.2208C>G (p.Asn736Lys)
n.2359C>G
c.2205C>G (p.Asn735Lys)
c.2379C>G (p.Asn793Lys)
7g.41967645G=CA1702661863GLI3c.2382C= (p.Asn794=)
c.2208C= (p.Asn736=)
n.2359C=
c.2205C= (p.Asn735=)
c.2379C= (p.Asn793=)
7g.41967645G>TCA367321202GLI3c.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
7g.41967646T>ACA367321204GLI3c.2381A>T (p.Asn794Ile)
c.2207A>T (p.Asn736Ile)
n.2358A>T
c.2204A>T (p.Asn735Ile)
c.2378A>T (p.Asn793Ile)
 dbSNP
7g.41967646T>CCA156909082GLI3c.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
7g.41967646T>GCA367321205GLI3c.2381A>C (p.Asn794Thr)
c.2207A>C (p.Asn736Thr)
n.2358A>C
c.2204A>C (p.Asn735Thr)
c.2378A>C (p.Asn793Thr)
 dbSNP
7g.41967646T=CA1702661864GLI3c.2381A= (p.Asn794=)
c.2207A= (p.Asn736=)
n.2358A=
c.2204A= (p.Asn735=)
c.2378A= (p.Asn793=)
7g.41967647T>ACA367321206GLI3c.2380A>T (p.Asn794Tyr)
c.2206A>T (p.Asn736Tyr)
n.2357A>T
c.2203A>T (p.Asn735Tyr)
c.2377A>T (p.Asn793Tyr)
7g.41967647T>CCA367321207GLI3c.2380A>G (p.Asn794Asp)
c.2206A>G (p.Asn736Asp)
n.2357A>G
c.2203A>G (p.Asn735Asp)
c.2377A>G (p.Asn793Asp)
7g.41967647T>GCA367321208GLI3c.2380A>C (p.Asn794His)
c.2206A>C (p.Asn736His)
n.2357A>C
c.2203A>C (p.Asn735His)
c.2377A>C (p.Asn793His)
 dbSNP
7g.41967648C>ACA454663089GLI3c.2379G>T (p.Leu793=)
c.2205G>T (p.Leu735=)
n.2356G>T
c.2202G>T (p.Leu734=)
c.2376G>T (p.Leu792=)
 dbSNP
7g.41967648C=CA1702661865GLI3c.2379G= (p.Leu793=)
c.2205G= (p.Leu735=)
n.2356G=
c.2202G= (p.Leu734=)
c.2376G= (p.Leu792=)
7g.41967648C>GCA454663091GLI3c.2379G>C (p.Leu793=)
c.2205G>C (p.Leu735=)
n.2356G>C
c.2202G>C (p.Leu734=)
c.2376G>C (p.Leu792=)
 dbSNP
7g.41967648C>TCA454663092GLI3c.2379G>A (p.Leu793=)
c.2205G>A (p.Leu735=)
n.2356G>A
c.2202G>A (p.Leu734=)
c.2376G>A (p.Leu792=)
 dbSNP
7g.41967649A>CCA367321209GLI3c.2378T>G (p.Leu793Arg)
c.2204T>G (p.Leu735Arg)
n.2355T>G
c.2201T>G (p.Leu734Arg)
c.2375T>G (p.Leu792Arg)
7g.41967649A>GCA367321210GLI3c.2378T>C (p.Leu793Pro)
c.2204T>C (p.Leu735Pro)
n.2355T>C
c.2201T>C (p.Leu734Pro)
c.2375T>C (p.Leu792Pro)
7g.41967649A>TCA367321211GLI3c.2378T>A (p.Leu793Gln)
c.2204T>A (p.Leu735Gln)
n.2355T>A
c.2201T>A (p.Leu734Gln)
c.2375T>A (p.Leu792Gln)
 dbSNP
7g.41967650G>ACA454663096GLI3c.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
7g.41967650G>CCA367321212GLI3c.2377C>G (p.Leu793Val)
c.2203C>G (p.Leu735Val)
n.2354C>G
c.2200C>G (p.Leu734Val)
c.2374C>G (p.Leu792Val)
 dbSNP
7g.41967650G>TCA367321213GLI3c.2377C>A (p.Leu793Met)
c.2203C>A (p.Leu735Met)
n.2354C>A
c.2200C>A (p.Leu734Met)
c.2374C>A (p.Leu792Met)
7g.41967651T>ACA454663097GLI3c.2376A>T (p.Arg792=)
c.2202A>T (p.Arg734=)
n.2353A>T
c.2199A>T (p.Arg733=)
c.2373A>T (p.Arg791=)
 dbSNP
7g.41967651T>CCA454663098GLI3c.2376A>G (p.Arg792=)
c.2202A>G (p.Arg734=)
n.2353A>G
c.2199A>G (p.Arg733=)
c.2373A>G (p.Arg791=)
7g.41967651T>GCA454663100GLI3c.2376A>C (p.Arg792=)
c.2202A>C (p.Arg734=)
n.2353A>C
c.2199A>C (p.Arg733=)
c.2373A>C (p.Arg791=)
 dbSNP
7g.41967652C>ACA367321214GLI3c.2375G>T (p.Arg792Leu)
c.2201G>T (p.Arg734Leu)
n.2352G>T
c.2198G>T (p.Arg733Leu)
c.2372G>T (p.Arg791Leu)
7g.41967652C=CA1702661866GLI3c.2375G= (p.Arg792=)
c.2201G= (p.Arg734=)
n.2352G=
c.2198G= (p.Arg733=)
c.2372G= (p.Arg791=)
7g.41967652C>GCA367321215GLI3c.2375G>C (p.Arg792Pro)
c.2201G>C (p.Arg734Pro)
n.2352G>C
c.2198G>C (p.Arg733Pro)
c.2372G>C (p.Arg791Pro)
 dbSNP
7g.41967652C>TCA4230631GLI3c.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
7g.41967653G>ACA256983GLI3c.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
7g.41967653G>CCA367321216GLI3c.2374C>G (p.Arg792Gly)
c.2200C>G (p.Arg734Gly)
n.2351C>G
c.2197C>G (p.Arg733Gly)
c.2371C>G (p.Arg791Gly)
 dbSNP
7g.41967653G=CA1702661867GLI3c.2374C= (p.Arg792=)
c.2200C= (p.Arg734=)
n.2351C=
c.2197C= (p.Arg733=)
c.2371C= (p.Arg791=)
7g.41967653G>TCA454663103GLI3c.2374C>A (p.Arg792=)
c.2200C>A (p.Arg734=)
n.2351C>A
c.2197C>A (p.Arg733=)
c.2371C>A (p.Arg791=)
 dbSNP
7g.41967654C>ACA454663104GLI3c.2373G>T (p.Pro791=)
c.2199G>T (p.Pro733=)
n.2350G>T
c.2196G>T (p.Pro732=)
c.2370G>T (p.Pro790=)
7g.41967654C=CA1702661869GLI3c.2373G= (p.Pro791=)
c.2199G= (p.Pro733=)
n.2350G=
c.2196G= (p.Pro732=)
c.2370G= (p.Pro790=)
7g.41967654C>GCA454663106GLI3c.2373G>C (p.Pro791=)
c.2199G>C (p.Pro733=)
n.2350G>C
c.2196G>C (p.Pro732=)
c.2370G>C (p.Pro790=)
 dbSNP
7g.41967654C>TCA4230632GLI3c.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
7g.41967654_41967655delinsCGCA1702661868GLI3c.2372_2373delinsCG (p.Pro791=)
c.2198_2199delinsCG (p.Pro733=)
n.2349_2350delinsCG
c.2195_2196delinsCG (p.Pro732=)
c.2369_2370delinsCG (p.Pro790=)
7g.41967655G>ACA4230633GLI3c.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
7g.41967655G>CCA367321217GLI3c.2372C>G (p.Pro791Arg)
c.2198C>G (p.Pro733Arg)
n.2349C>G
c.2195C>G (p.Pro732Arg)
c.2369C>G (p.Pro790Arg)
 dbSNP
7g.41967655G=CA1702661870GLI3c.2372C= (p.Pro791=)
c.2198C= (p.Pro733=)
n.2349C=
c.2195C= (p.Pro732=)
c.2369C= (p.Pro790=)
7g.41967655G>TCA367321218GLI3c.2372C>A (p.Pro791Gln)
c.2198C>A (p.Pro733Gln)
n.2349C>A
c.2195C>A (p.Pro732Gln)
c.2369C>A (p.Pro790Gln)
 dbSNP
7g.41967656delCA913186020GLI3c.2372del (p.Pro791ArgfsTer3)
c.2198del (p.Pro733ArgfsTer3)
n.2349del
c.2195del (p.Pro732ArgfsTer3)
c.2369del (p.Pro790ArgfsTer3)
 ClinVar dbSNP
7g.41967656G>ACA367321219GLI3c.2371C>T (p.Pro791Ser)
c.2197C>T (p.Pro733Ser)
n.2348C>T
c.2194C>T (p.Pro732Ser)
c.2368C>T (p.Pro790Ser)
 dbSNP
7g.41967656G>CCA367321220GLI3c.2371C>G (p.Pro791Ala)
c.2197C>G (p.Pro733Ala)
n.2348C>G
c.2194C>G (p.Pro732Ala)
c.2368C>G (p.Pro790Ala)
 dbSNP
7g.41967656G>TCA367321221GLI3c.2371C>A (p.Pro791Thr)
c.2197C>A (p.Pro733Thr)
n.2348C>A
c.2194C>A (p.Pro732Thr)
c.2368C>A (p.Pro790Thr)
7g.41967657A>CCA367321222GLI3c.2370T>G (p.Phe790Leu)
c.2196T>G (p.Phe732Leu)
n.2347T>G
c.2193T>G (p.Phe731Leu)
c.2367T>G (p.Phe789Leu)
7g.41967657A>GCA454663111GLI3c.2370T>C (p.Phe790=)
c.2196T>C (p.Phe732=)
n.2347T>C
c.2193T>C (p.Phe731=)
c.2367T>C (p.Phe789=)
7g.41967657A>TCA367321223GLI3c.2370T>A (p.Phe790Leu)
c.2196T>A (p.Phe732Leu)
n.2347T>A
c.2193T>A (p.Phe731Leu)
c.2367T>A (p.Phe789Leu)
 dbSNP
7g.41967658A>CCA367321224GLI3c.2369T>G (p.Phe790Cys)
c.2195T>G (p.Phe732Cys)
n.2346T>G
c.2192T>G (p.Phe731Cys)
c.2366T>G (p.Phe789Cys)
7g.41967658A>GCA367321225GLI3c.2369T>C (p.Phe790Ser)
c.2195T>C (p.Phe732Ser)
n.2346T>C
c.2192T>C (p.Phe731Ser)
c.2366T>C (p.Phe789Ser)
 dbSNP
7g.41967658A>TCA367321226GLI3c.2369T>A (p.Phe790Tyr)
c.2195T>A (p.Phe732Tyr)
n.2346T>A
c.2192T>A (p.Phe731Tyr)
c.2366T>A (p.Phe789Tyr)
 dbSNP
7g.41967659A=CA1702661871GLI3c.2368T= (p.Phe790=)
c.2194T= (p.Phe732=)
n.2345T=
c.2191T= (p.Phe731=)
c.2365T= (p.Phe789=)
7g.41967659A>CCA4230634GLI3c.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
7g.41967659A>GCA367321228GLI3c.2368T>C (p.Phe790Leu)
c.2194T>C (p.Phe732Leu)
n.2345T>C
c.2191T>C (p.Phe731Leu)
c.2365T>C (p.Phe789Leu)
 dbSNP
7g.41967659A>TCA367321227GLI3c.2368T>A (p.Phe790Ile)
c.2194T>A (p.Phe732Ile)
n.2345T>A
c.2191T>A (p.Phe731Ile)
c.2365T>A (p.Phe789Ile)
 dbSNP
7g.41967660C>ACA367321229GLI3c.2367G>T (p.Met789Ile)
c.2193G>T (p.Met731Ile)
n.2344G>T
c.2190G>T (p.Met730Ile)
c.2364G>T (p.Met788Ile)
 dbSNP
7g.41967660C=CA1702661872GLI3c.2367G= (p.Met789=)
c.2193G= (p.Met731=)
n.2344G=
c.2190G= (p.Met730=)
c.2364G= (p.Met788=)
7g.41967660C>GCA367321230GLI3c.2367G>C (p.Met789Ile)
c.2193G>C (p.Met731Ile)
n.2344G>C
c.2190G>C (p.Met730Ile)
c.2364G>C (p.Met788Ile)
 dbSNP
7g.41967660C>TCA4230635GLI3c.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
7g.41967661A>CCA367321231GLI3c.2366T>G (p.Met789Arg)
c.2192T>G (p.Met731Arg)
n.2343T>G
c.2189T>G (p.Met730Arg)
c.2363T>G (p.Met788Arg)
 gnomAD v4
7g.41967661A>GCA367321232GLI3c.2366T>C (p.Met789Thr)
c.2192T>C (p.Met731Thr)
n.2343T>C
c.2189T>C (p.Met730Thr)
c.2363T>C (p.Met788Thr)
 dbSNP
7g.41967661A>TCA367321233GLI3c.2366T>A (p.Met789Lys)
c.2192T>A (p.Met731Lys)
n.2343T>A
c.2189T>A (p.Met730Lys)
c.2363T>A (p.Met788Lys)
 COSMIC
7g.41967662T>ACA367321234GLI3c.2365A>T (p.Met789Leu)
c.2191A>T (p.Met731Leu)
n.2342A>T
c.2188A>T (p.Met730Leu)
c.2362A>T (p.Met788Leu)
7g.41967662T>CCA367321235GLI3c.2365A>G (p.Met789Val)
c.2191A>G (p.Met731Val)
n.2342A>G
c.2188A>G (p.Met730Val)
c.2362A>G (p.Met788Val)
7g.41967662T>GCA367321236GLI3c.2365A>C (p.Met789Leu)
c.2191A>C (p.Met731Leu)
n.2342A>C
c.2188A>C (p.Met730Leu)
c.2362A>C (p.Met788Leu)
7g.41967663T>ACA454663117GLI3c.2364A>T (p.Gly788=)
c.2190A>T (p.Gly730=)
n.2341A>T
c.2187A>T (p.Gly729=)
c.2361A>T (p.Gly787=)
7g.41967663T>CCA454663118GLI3c.2364A>G (p.Gly788=)
c.2190A>G (p.Gly730=)
n.2341A>G
c.2187A>G (p.Gly729=)
c.2361A>G (p.Gly787=)
7g.41967663T>GCA454663120GLI3c.2364A>C (p.Gly788=)
c.2190A>C (p.Gly730=)
n.2341A>C
c.2187A>C (p.Gly729=)
c.2361A>C (p.Gly787=)
7g.41967664C>ACA367321237GLI3c.2363G>T (p.Gly788Val)
c.2189G>T (p.Gly730Val)
n.2340G>T
c.2186G>T (p.Gly729Val)
c.2360G>T (p.Gly787Val)
7g.41967664C>GCA367321238GLI3c.2363G>C (p.Gly788Ala)
c.2189G>C (p.Gly730Ala)
n.2340G>C
c.2186G>C (p.Gly729Ala)
c.2360G>C (p.Gly787Ala)
7g.41967664C>TCA367321239GLI3c.2363G>A (p.Gly788Glu)
c.2189G>A (p.Gly730Glu)
n.2340G>A
c.2186G>A (p.Gly729Glu)
c.2360G>A (p.Gly787Glu)
7g.41967665delCA2714403041GLI3c.2363del (p.Gly788GlufsTer6)
c.2189del (p.Gly730GlufsTer6)
n.2340del
c.2186del (p.Gly729GlufsTer6)
c.2360del (p.Gly787GlufsTer6)
 dbSNP
7g.41967665C>ACA367321242GLI3c.2362G>T (p.Gly788Ter)
c.2188G>T (p.Gly730Ter)
n.2339G>T
c.2185G>T (p.Gly729Ter)
c.2359G>T (p.Gly787Ter)
 dbSNP
7g.41967665C=CA1702661873GLI3c.2362G= (p.Gly788=)
c.2188G= (p.Gly730=)
n.2339G=
c.2185G= (p.Gly729=)
c.2359G= (p.Gly787=)
7g.41967665C>GCA367321241GLI3c.2362G>C (p.Gly788Arg)
c.2188G>C (p.Gly730Arg)
n.2339G>C
c.2185G>C (p.Gly729Arg)
c.2359G>C (p.Gly787Arg)
7g.41967665C>TCA367321240GLI3c.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
7g.41967666A=CA1702661874GLI3c.2361T= (p.Asn787=)
c.2187T= (p.Asn729=)
n.2338T=
c.2184T= (p.Asn728=)
c.2358T= (p.Asn786=)
7g.41967666A>CCA367321243GLI3c.2361T>G (p.Asn787Lys)
c.2187T>G (p.Asn729Lys)
n.2338T>G
c.2184T>G (p.Asn728Lys)
c.2358T>G (p.Asn786Lys)
7g.41967666A>GCA4230636GLI3c.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
7g.41967666A>TCA156909134GLI3c.2361T>A (p.Asn787Lys)
c.2187T>A (p.Asn729Lys)
n.2338T>A
c.2184T>A (p.Asn728Lys)
c.2358T>A (p.Asn786Lys)
 dbSNP
7g.41967667T>ACA367321244GLI3c.2360A>T (p.Asn787Ile)
c.2186A>T (p.Asn729Ile)
n.2337A>T
c.2183A>T (p.Asn728Ile)
c.2357A>T (p.Asn786Ile)
7g.41967667T>CCA367321245GLI3c.2360A>G (p.Asn787Ser)
c.2186A>G (p.Asn729Ser)
n.2337A>G
c.2183A>G (p.Asn728Ser)
c.2357A>G (p.Asn786Ser)
7g.41967667T>GCA367321246GLI3c.2360A>C (p.Asn787Thr)
c.2186A>C (p.Asn729Thr)
n.2337A>C
c.2183A>C (p.Asn728Thr)
c.2357A>C (p.Asn786Thr)
 gnomAD v4
7g.41967668T>ACA367321247GLI3c.2359A>T (p.Asn787Tyr)
c.2185A>T (p.Asn729Tyr)
n.2336A>T
c.2182A>T (p.Asn728Tyr)
c.2356A>T (p.Asn786Tyr)
7g.41967668T>CCA367321248GLI3c.2359A>G (p.Asn787Asp)
c.2185A>G (p.Asn729Asp)
n.2336A>G
c.2182A>G (p.Asn728Asp)
c.2356A>G (p.Asn786Asp)
7g.41967668T>GCA367321249GLI3c.2359A>C (p.Asn787His)
c.2185A>C (p.Asn729His)
n.2336A>C
c.2182A>C (p.Asn728His)
c.2356A>C (p.Asn786His)
7g.41967669delCA2714403054GLI3c.2358del (p.Asn787MetfsTer7)
c.2184del (p.Asn729MetfsTer7)
n.2335del
c.2181del (p.Asn728MetfsTer7)
c.2355del (p.Asn786MetfsTer7)
 dbSNP
7g.41967669C>ACA454663130GLI3c.2358G>T (p.Val786=)
c.2184G>T (p.Val728=)
n.2335G>T
c.2181G>T (p.Val727=)
c.2355G>T (p.Val785=)
 dbSNP
7g.41967669C>GCA454663132GLI3c.2358G>C (p.Val786=)
c.2184G>C (p.Val728=)
n.2335G>C
c.2181G>C (p.Val727=)
c.2355G>C (p.Val785=)
 dbSNP
7g.41967669C>TCA454663134GLI3c.2358G>A (p.Val786=)
c.2184G>A (p.Val728=)
n.2335G>A
c.2181G>A (p.Val727=)
c.2355G>A (p.Val785=)
 dbSNP
7g.41967670A=CA1702661876GLI3c.2357T= (p.Val786=)
c.2183T= (p.Val728=)
n.2334T=
c.2180T= (p.Val727=)
c.2354T= (p.Val785=)
7g.41967670A>CCA367321250GLI3c.2357T>G (p.Val786Gly)
c.2183T>G (p.Val728Gly)
n.2334T>G
c.2180T>G (p.Val727Gly)
c.2354T>G (p.Val785Gly)
7g.41967670A>GCA4230637GLI3c.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
7g.41967670A>TCA367321251GLI3c.2357T>A (p.Val786Glu)
c.2183T>A (p.Val728Glu)
n.2334T>A
c.2180T>A (p.Val727Glu)
c.2354T>A (p.Val785Glu)
 dbSNP
7g.41967670_41967681delinsACTTGTTTTAGCCA1702661875GLI3c.2346_2357delinsGCTAAAACAAGT (p.Arg782=)
c.2172_2183delinsGCTAAAACAAGT (p.Arg724=)
n.2323_2334delinsGCTAAAACAAGT
c.2169_2180delinsGCTAAAACAAGT (p.Arg723=)
c.2343_2354delinsGCTAAAACAAGT (p.Arg781=)
7g.41967671C>ACA367321253GLI3c.2356G>T (p.Val786Leu)
c.2182G>T (p.Val728Leu)
n.2333G>T
c.2179G>T (p.Val727Leu)
c.2353G>T (p.Val785Leu)
 dbSNP
7g.41967671C>GCA367321254GLI3c.2356G>C (p.Val786Leu)
c.2182G>C (p.Val728Leu)
n.2333G>C
c.2179G>C (p.Val727Leu)
c.2353G>C (p.Val785Leu)
 dbSNP
7g.41967671C>TCA367321252GLI3c.2356G>A (p.Val786Met)
c.2182G>A (p.Val728Met)
n.2333G>A
c.2179G>A (p.Val727Met)
c.2353G>A (p.Val785Met)
7g.41967671_41967676delinsCTTGTTCA1702661877GLI3c.2351_2356delinsAACAAG (p.Lys784=)
c.2177_2182delinsAACAAG (p.Lys726=)
n.2328_2333delinsAACAAG
c.2174_2179delinsAACAAG (p.Lys725=)
c.2348_2353delinsAACAAG (p.Lys783=)
7g.41967674_41967684delCA342928GLI3c.2346_2356del (p.Arg782SerfsTer15)
c.2172_2182del (p.Arg724SerfsTer15)
n.2323_2333del
c.2169_2179del (p.Arg723SerfsTer15)
c.2343_2353del (p.Arg781SerfsTer15)
 dbSNP
7g.41967672T>ACA367321255GLI3c.2355A>T (p.Gln785His)
c.2181A>T (p.Gln727His)
n.2332A>T
c.2178A>T (p.Gln726His)
c.2352A>T (p.Gln784His)
7g.41967672T>CCA454663142GLI3c.2355A>G (p.Gln785=)
c.2181A>G (p.Gln727=)
n.2332A>G
c.2178A>G (p.Gln726=)
c.2352A>G (p.Gln784=)
7g.41967672T>GCA367321256GLI3c.2355A>C (p.Gln785His)
c.2181A>C (p.Gln727His)
n.2332A>C
c.2178A>C (p.Gln726His)
c.2352A>C (p.Gln784His)
7g.41967674_41967678delCA342929GLI3c.2351_2355del (p.Lys784SerfsTer15)
c.2177_2181del (p.Lys726SerfsTer15)
n.2328_2332del
c.2174_2178del (p.Lys725SerfsTer15)
c.2348_2352del (p.Lys783SerfsTer15)
 dbSNP
7g.41967673T>ACA367321257GLI3c.2354A>T (p.Gln785Leu)
c.2180A>T (p.Gln727Leu)
n.2331A>T
c.2177A>T (p.Gln726Leu)
c.2351A>T (p.Gln784Leu)
7g.41967673T>CCA367321258GLI3c.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
7g.41967673T>GCA367321259GLI3c.2354A>C (p.Gln785Pro)
c.2180A>C (p.Gln727Pro)
n.2331A>C
c.2177A>C (p.Gln726Pro)
c.2351A>C (p.Gln784Pro)
7g.41967673T=CA1702661878GLI3c.2354A= (p.Gln785=)
c.2180A= (p.Gln727=)
n.2331A=
c.2177A= (p.Gln726=)
c.2351A= (p.Gln784=)
7g.41967674G>ACA367321262GLI3c.2353C>T (p.Gln785Ter)
c.2179C>T (p.Gln727Ter)
n.2330C>T
c.2176C>T (p.Gln726Ter)
c.2350C>T (p.Gln784Ter)
 COSMIC
7g.41967674G>CCA367321260GLI3c.2353C>G (p.Gln785Glu)
c.2179C>G (p.Gln727Glu)
n.2330C>G
c.2176C>G (p.Gln726Glu)
c.2350C>G (p.Gln784Glu)
 dbSNP
7g.41967674G>TCA367321261GLI3c.2353C>A (p.Gln785Lys)
c.2179C>A (p.Gln727Lys)
n.2330C>A
c.2176C>A (p.Gln726Lys)
c.2350C>A (p.Gln784Lys)
7g.41967675T>ACA367321263GLI3c.2352A>T (p.Lys784Asn)
c.2178A>T (p.Lys726Asn)
n.2329A>T
c.2175A>T (p.Lys725Asn)
c.2349A>T (p.Lys783Asn)
 dbSNP
7g.41967675T>CCA454663146GLI3c.2352A>G (p.Lys784=)
c.2178A>G (p.Lys726=)
n.2329A>G
c.2175A>G (p.Lys725=)
c.2349A>G (p.Lys783=)
 dbSNP
7g.41967675T>GCA367321264GLI3c.2352A>C (p.Lys784Asn)
c.2178A>C (p.Lys726Asn)
n.2329A>C
c.2175A>C (p.Lys725Asn)
c.2349A>C (p.Lys783Asn)
 dbSNP
7g.41967676T>ACA367321265GLI3c.2351A>T (p.Lys784Ile)
c.2177A>T (p.Lys726Ile)
n.2328A>T
c.2174A>T (p.Lys725Ile)
c.2348A>T (p.Lys783Ile)
7g.41967676T>CCA367321266GLI3c.2351A>G (p.Lys784Arg)
c.2177A>G (p.Lys726Arg)
n.2328A>G
c.2174A>G (p.Lys725Arg)
c.2348A>G (p.Lys783Arg)
7g.41967676T>GCA367321267GLI3c.2351A>C (p.Lys784Thr)
c.2177A>C (p.Lys726Thr)
n.2328A>C
c.2174A>C (p.Lys725Thr)
c.2348A>C (p.Lys783Thr)
7g.41967677T>ACA367321268GLI3c.2350A>T (p.Lys784Ter)
c.2176A>T (p.Lys726Ter)
n.2327A>T
c.2173A>T (p.Lys725Ter)
c.2347A>T (p.Lys783Ter)
7g.41967677T>CCA367321270GLI3c.2350A>G (p.Lys784Glu)
c.2176A>G (p.Lys726Glu)
n.2327A>G
c.2173A>G (p.Lys725Glu)
c.2347A>G (p.Lys783Glu)
7g.41967677T>GCA367321269GLI3c.2350A>C (p.Lys784Gln)
c.2176A>C (p.Lys726Gln)
n.2327A>C
c.2173A>C (p.Lys725Gln)
c.2347A>C (p.Lys783Gln)
7g.41967678T>ACA454663153GLI3c.2349A>T (p.Leu783=)
c.2175A>T (p.Leu725=)
n.2326A>T
c.2172A>T (p.Leu724=)
c.2346A>T (p.Leu782=)
7g.41967678T>CCA454663151GLI3c.2349A>G (p.Leu783=)
c.2175A>G (p.Leu725=)
n.2326A>G
c.2172A>G (p.Leu724=)
c.2346A>G (p.Leu782=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41967678T>GCA454663152GLI3c.2349A>C (p.Leu783=)
c.2175A>C (p.Leu725=)
n.2326A>C
c.2172A>C (p.Leu724=)
c.2346A>C (p.Leu782=)
7g.41967678T=CA1702661879GLI3c.2349A= (p.Leu783=)
c.2175A= (p.Leu725=)
n.2326A=
c.2172A= (p.Leu724=)
c.2346A= (p.Leu782=)
7g.41967679A>CCA367321271GLI3c.2348T>G (p.Leu783Arg)
c.2174T>G (p.Leu725Arg)
n.2325T>G
c.2171T>G (p.Leu724Arg)
c.2345T>G (p.Leu782Arg)
7g.41967679A>GCA367321272GLI3c.2348T>C (p.Leu783Pro)
c.2174T>C (p.Leu725Pro)
n.2325T>C
c.2171T>C (p.Leu724Pro)
c.2345T>C (p.Leu782Pro)
7g.41967679A>TCA367321273GLI3c.2348T>A (p.Leu783Gln)
c.2174T>A (p.Leu725Gln)
n.2325T>A
c.2171T>A (p.Leu724Gln)
c.2345T>A (p.Leu782Gln)
 dbSNP
7g.41967680G>ACA454663154GLI3c.2347C>T (p.Leu783=)
c.2173C>T (p.Leu725=)
n.2324C>T
c.2170C>T (p.Leu724=)
c.2344C>T (p.Leu782=)
7g.41967680G>CCA367321274GLI3c.2347C>G (p.Leu783Val)
c.2173C>G (p.Leu725Val)
n.2324C>G
c.2170C>G (p.Leu724Val)
c.2344C>G (p.Leu782Val)
7g.41967680G>TCA367321275GLI3c.2347C>A (p.Leu783Ile)
c.2173C>A (p.Leu725Ile)
n.2324C>A
c.2170C>A (p.Leu724Ile)
c.2344C>A (p.Leu782Ile)
 dbSNP
7g.41967681C>ACA367321276GLI3c.2346G>T (p.Arg782Ser)
c.2172G>T (p.Arg724Ser)
n.2323G>T
c.2169G>T (p.Arg723Ser)
c.2343G>T (p.Arg781Ser)
 dbSNP
7g.41967681C=CA1702661880GLI3c.2346G= (p.Arg782=)
c.2172G= (p.Arg724=)
n.2323G=
c.2169G= (p.Arg723=)
c.2343G= (p.Arg781=)
7g.41967681C>GCA367321277GLI3c.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
7g.41967681C>TCA454663157GLI3c.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
7g.41967682C>ACA367321278GLI3c.2345G>T (p.Arg782Met)
c.2171G>T (p.Arg724Met)
n.2322G>T
c.2168G>T (p.Arg723Met)
c.2342G>T (p.Arg781Met)
7g.41967682C>GCA367321279GLI3c.2345G>C (p.Arg782Thr)
c.2171G>C (p.Arg724Thr)
n.2322G>C
c.2168G>C (p.Arg723Thr)
c.2342G>C (p.Arg781Thr)
 dbSNP
7g.41967682C>TCA367321280GLI3c.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
7g.41967683T>ACA367321281GLI3c.2344A>T (p.Arg782Trp)
c.2170A>T (p.Arg724Trp)
n.2321A>T
c.2167A>T (p.Arg723Trp)
c.2341A>T (p.Arg781Trp)
 dbSNP
7g.41967683T>CCA367321282GLI3c.2344A>G (p.Arg782Gly)
c.2170A>G (p.Arg724Gly)
n.2321A>G
c.2167A>G (p.Arg723Gly)
c.2341A>G (p.Arg781Gly)
7g.41967683T>GCA454663159GLI3c.2344A>C (p.Arg782=)
c.2170A>C (p.Arg724=)
n.2321A>C
c.2167A>C (p.Arg723=)
c.2341A>C (p.Arg781=)
7g.41967684T>ACA367321283GLI3c.2343A>T (p.Glu781Asp)
c.2169A>T (p.Glu723Asp)
n.2320A>T
c.2166A>T (p.Glu722Asp)
c.2340A>T (p.Glu780Asp)
7g.41967684T>CCA454663165GLI3c.2343A>G (p.Glu781=)
c.2169A>G (p.Glu723=)
n.2320A>G
c.2166A>G (p.Glu722=)
c.2340A>G (p.Glu780=)
7g.41967684T>GCA367321284GLI3c.2343A>C (p.Glu781Asp)
c.2169A>C (p.Glu723Asp)
n.2320A>C
c.2166A>C (p.Glu722Asp)
c.2340A>C (p.Glu780Asp)
7g.41967685T>ACA367321285GLI3c.2342A>T (p.Glu781Val)
c.2168A>T (p.Glu723Val)
n.2319A>T
c.2165A>T (p.Glu722Val)
c.2339A>T (p.Glu780Val)
 dbSNP
7g.41967685T>CCA367321287GLI3c.2342A>G (p.Glu781Gly)
c.2168A>G (p.Glu723Gly)
n.2319A>G
c.2165A>G (p.Glu722Gly)
c.2339A>G (p.Glu780Gly)
 dbSNP
7g.41967685T>GCA367321286GLI3c.2342A>C (p.Glu781Ala)
c.2168A>C (p.Glu723Ala)
n.2319A>C
c.2165A>C (p.Glu722Ala)
c.2339A>C (p.Glu780Ala)
7g.41967686C>ACA367321288GLI3c.2341G>T (p.Glu781Ter)
c.2167G>T (p.Glu723Ter)
n.2318G>T
c.2164G>T (p.Glu722Ter)
c.2338G>T (p.Glu780Ter)
7g.41967686C>GCA367321290GLI3c.2341G>C (p.Glu781Gln)
c.2167G>C (p.Glu723Gln)
n.2318G>C
c.2164G>C (p.Glu722Gln)
c.2338G>C (p.Glu780Gln)
 dbSNP
7g.41967686C>TCA367321289GLI3c.2341G>A (p.Glu781Lys)
c.2167G>A (p.Glu723Lys)
n.2318G>A
c.2164G>A (p.Glu722Lys)
c.2338G>A (p.Glu780Lys)
 dbSNP
7g.41967687T>ACA454663364GLI3c.2340A>T (p.Leu780=)
c.2166A>T (p.Leu722=)
n.2317A>T
c.2163A>T (p.Leu721=)
c.2337A>T (p.Leu779=)
7g.41967687T>CCA454663365GLI3c.2340A>G (p.Leu780=)
c.2166A>G (p.Leu722=)
n.2317A>G
c.2163A>G (p.Leu721=)
c.2337A>G (p.Leu779=)
7g.41967687T>GCA454663367GLI3c.2340A>C (p.Leu780=)
c.2166A>C (p.Leu722=)
n.2317A>C
c.2163A>C (p.Leu721=)
c.2337A>C (p.Leu779=)

Number of alleles fetched