Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.41967820C>ACA367321572GLI3c.2207G>T (p.Gly736Val)
c.2033G>T (p.Gly678Val)
n.2184G>T
c.2030G>T (p.Gly677Val)
c.2204G>T (p.Gly735Val)
 dbSNP
7g.41967820C=CA1702661938GLI3c.2207G= (p.Gly736=)
c.2033G= (p.Gly678=)
n.2184G=
c.2030G= (p.Gly677=)
c.2204G= (p.Gly735=)
7g.41967820C>GCA367321573GLI3c.2207G>C (p.Gly736Ala)
c.2033G>C (p.Gly678Ala)
n.2184G>C
c.2030G>C (p.Gly677Ala)
c.2204G>C (p.Gly735Ala)
 dbSNP
7g.41967820C>TCA156909371GLI3c.2207G>A (p.Gly736Asp)
c.2033G>A (p.Gly678Asp)
n.2184G>A
c.2030G>A (p.Gly677Asp)
c.2204G>A (p.Gly735Asp)
 dbSNP gnomAD v4
7g.41967821dupCA2695207644GLI3c.2207dup (p.Ser737Ter)
c.2033dup (p.Ser679Ter)
n.2184dup
c.2030dup (p.Ser678Ter)
c.2204dup (p.Ser736Ter)
7g.41967820_41967839delinsCCTCCATCGGTCAGAGGAAGCA1702661937GLI3c.2188_2207delinsCTTCCTCTGACCGATGGAGG (p.Leu730=)
c.2014_2033delinsCTTCCTCTGACCGATGGAGG (p.Leu672=)
n.2165_2184delinsCTTCCTCTGACCGATGGAGG
c.2011_2030delinsCTTCCTCTGACCGATGGAGG (p.Leu671=)
c.2185_2204delinsCTTCCTCTGACCGATGGAGG (p.Leu729=)
7g.41967821_41967840delCA2695207645GLI3c.2188_2207del (p.Leu730Ter)
c.2014_2033del (p.Leu672Ter)
n.2165_2184del
c.2011_2030del (p.Leu671Ter)
c.2185_2204del (p.Leu729Ter)
7g.41967821C>ACA367321574GLI3c.2206G>T (p.Gly736Cys)
c.2032G>T (p.Gly678Cys)
n.2183G>T
c.2029G>T (p.Gly677Cys)
c.2203G>T (p.Gly735Cys)
 dbSNP
7g.41967821C>GCA367321575GLI3c.2206G>C (p.Gly736Arg)
c.2032G>C (p.Gly678Arg)
n.2183G>C
c.2029G>C (p.Gly677Arg)
c.2203G>C (p.Gly735Arg)
7g.41967821C>TCA367321576GLI3c.2206G>A (p.Gly736Ser)
c.2032G>A (p.Gly678Ser)
n.2183G>A
c.2029G>A (p.Gly677Ser)
c.2203G>A (p.Gly735Ser)
7g.41967824_41967842delCA341305GLI3c.2188_2206del (p.Leu730ValfsTer3)
c.2014_2032del (p.Leu672ValfsTer3)
n.2165_2183del
c.2011_2029del (p.Leu671ValfsTer3)
c.2185_2203del (p.Leu729ValfsTer3)
 ClinVar dbSNP
7g.41967822T>ACA454663512GLI3c.2205A>T (p.Gly735=)
c.2031A>T (p.Gly677=)
n.2182A>T
c.2028A>T (p.Gly676=)
c.2202A>T (p.Gly734=)
7g.41967822T>CCA454663510GLI3c.2205A>G (p.Gly735=)
c.2031A>G (p.Gly677=)
n.2182A>G
c.2028A>G (p.Gly676=)
c.2202A>G (p.Gly734=)
7g.41967822T>GCA454663511GLI3c.2205A>C (p.Gly735=)
c.2031A>C (p.Gly677=)
n.2182A>C
c.2028A>C (p.Gly676=)
c.2202A>C (p.Gly734=)
7g.41967823C>ACA367321577GLI3c.2204G>T (p.Gly735Val)
c.2030G>T (p.Gly677Val)
n.2181G>T
c.2027G>T (p.Gly676Val)
c.2201G>T (p.Gly734Val)
 dbSNP
7g.41967823C>GCA367321578GLI3c.2204G>C (p.Gly735Ala)
c.2030G>C (p.Gly677Ala)
n.2181G>C
c.2027G>C (p.Gly676Ala)
c.2201G>C (p.Gly734Ala)
 dbSNP
7g.41967823C>TCA367321579GLI3c.2204G>A (p.Gly735Glu)
c.2030G>A (p.Gly677Glu)
n.2181G>A
c.2027G>A (p.Gly676Glu)
c.2201G>A (p.Gly734Glu)
 dbSNP
7g.41967824C>ACA367321580GLI3c.2203G>T (p.Gly735Ter)
c.2029G>T (p.Gly677Ter)
n.2180G>T
c.2026G>T (p.Gly676Ter)
c.2200G>T (p.Gly734Ter)
7g.41967824C>GCA367321581GLI3c.2203G>C (p.Gly735Arg)
c.2029G>C (p.Gly677Arg)
n.2180G>C
c.2026G>C (p.Gly676Arg)
c.2200G>C (p.Gly734Arg)
7g.41967824C>TCA367321582GLI3c.2203G>A (p.Gly735Arg)
c.2029G>A (p.Gly677Arg)
n.2180G>A
c.2026G>A (p.Gly676Arg)
c.2200G>A (p.Gly734Arg)
 dbSNP gnomAD v3 gnomAD v4
7g.41967825A>CCA367321583GLI3c.2202T>G (p.Asp734Glu)
c.2028T>G (p.Asp676Glu)
n.2179T>G
c.2025T>G (p.Asp675Glu)
c.2199T>G (p.Asp733Glu)
 dbSNP
7g.41967825A>GCA454663516GLI3c.2202T>C (p.Asp734=)
c.2028T>C (p.Asp676=)
n.2179T>C
c.2025T>C (p.Asp675=)
c.2199T>C (p.Asp733=)
 gnomAD v4
7g.41967825A>TCA367321584GLI3c.2202T>A (p.Asp734Glu)
c.2028T>A (p.Asp676Glu)
n.2179T>A
c.2025T>A (p.Asp675Glu)
c.2199T>A (p.Asp733Glu)
 dbSNP
7g.41967826T>ACA367321585GLI3c.2201A>T (p.Asp734Val)
c.2027A>T (p.Asp676Val)
n.2178A>T
c.2024A>T (p.Asp675Val)
c.2198A>T (p.Asp733Val)
7g.41967826T>CCA367321586GLI3c.2201A>G (p.Asp734Gly)
c.2027A>G (p.Asp676Gly)
n.2178A>G
c.2024A>G (p.Asp675Gly)
c.2198A>G (p.Asp733Gly)
7g.41967826T>GCA367321587GLI3c.2201A>C (p.Asp734Ala)
c.2027A>C (p.Asp676Ala)
n.2178A>C
c.2024A>C (p.Asp675Ala)
c.2198A>C (p.Asp733Ala)
7g.41967827C>ACA367321589GLI3c.2200G>T (p.Asp734Tyr)
c.2026G>T (p.Asp676Tyr)
n.2177G>T
c.2023G>T (p.Asp675Tyr)
c.2197G>T (p.Asp733Tyr)
 dbSNP gnomAD v2 gnomAD v4
7g.41967827C=CA1702661939GLI3c.2200G= (p.Asp734=)
c.2026G= (p.Asp676=)
n.2177G=
c.2023G= (p.Asp675=)
c.2197G= (p.Asp733=)
7g.41967827C>GCA367321588GLI3c.2200G>C (p.Asp734His)
c.2026G>C (p.Asp676His)
n.2177G>C
c.2023G>C (p.Asp675His)
c.2197G>C (p.Asp733His)
 dbSNP
7g.41967827C>TCA4230663GLI3c.2200G>A (p.Asp734Asn)
c.2026G>A (p.Asp676Asn)
n.2177G>A
c.2023G>A (p.Asp675Asn)
c.2197G>A (p.Asp733Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41967828G>ACA4230664GLI3c.2199C>T (p.Thr733=)
c.2025C>T (p.Thr675=)
n.2176C>T
c.2022C>T (p.Thr674=)
c.2196C>T (p.Thr732=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41967828G>CCA454663519GLI3c.2199C>G (p.Thr733=)
c.2025C>G (p.Thr675=)
n.2176C>G
c.2022C>G (p.Thr674=)
c.2196C>G (p.Thr732=)
 dbSNP
7g.41967828G=CA1702661941GLI3c.2199C= (p.Thr733=)
c.2025C= (p.Thr675=)
n.2176C=
c.2022C= (p.Thr674=)
c.2196C= (p.Thr732=)
7g.41967828G>TCA454663520GLI3c.2199C>A (p.Thr733=)
c.2025C>A (p.Thr675=)
n.2176C>A
c.2022C>A (p.Thr674=)
c.2196C>A (p.Thr732=)
7g.41967828_41967830delinsGGTCA1702661940GLI3c.2197_2199delinsACC (p.Thr733=)
c.2023_2025delinsACC (p.Thr675=)
n.2174_2176delinsACC
c.2020_2022delinsACC (p.Thr674=)
c.2194_2196delinsACC (p.Thr732=)
7g.41967829G>ACA367321590GLI3c.2198C>T (p.Thr733Ile)
c.2024C>T (p.Thr675Ile)
n.2175C>T
c.2021C>T (p.Thr674Ile)
c.2195C>T (p.Thr732Ile)
 dbSNP
7g.41967829G>CCA367321591GLI3c.2198C>G (p.Thr733Ser)
c.2024C>G (p.Thr675Ser)
n.2175C>G
c.2021C>G (p.Thr674Ser)
c.2195C>G (p.Thr732Ser)
 dbSNP
7g.41967829G>TCA367321592GLI3c.2198C>A (p.Thr733Asn)
c.2024C>A (p.Thr675Asn)
n.2175C>A
c.2021C>A (p.Thr674Asn)
c.2195C>A (p.Thr732Asn)
7g.41967829_41967830delCA342927GLI3c.2197_2198del (p.Thr733ArgfsTer4)
c.2023_2024del (p.Thr675ArgfsTer4)
n.2174_2175del
c.2020_2021del (p.Thr674ArgfsTer4)
c.2194_2195del (p.Thr732ArgfsTer4)
 dbSNP
7g.41967830T>ACA367321593GLI3c.2197A>T (p.Thr733Ser)
c.2023A>T (p.Thr675Ser)
n.2174A>T
c.2020A>T (p.Thr674Ser)
c.2194A>T (p.Thr732Ser)
 dbSNP
7g.41967830T>CCA367321594GLI3c.2197A>G (p.Thr733Ala)
c.2023A>G (p.Thr675Ala)
n.2174A>G
c.2020A>G (p.Thr674Ala)
c.2194A>G (p.Thr732Ala)
 dbSNP
7g.41967830T>GCA367321595GLI3c.2197A>C (p.Thr733Pro)
c.2023A>C (p.Thr675Pro)
n.2174A>C
c.2020A>C (p.Thr674Pro)
c.2194A>C (p.Thr732Pro)
7g.41967831C>ACA454663528GLI3c.2196G>T (p.Leu732=)
c.2022G>T (p.Leu674=)
n.2173G>T
c.2019G>T (p.Leu673=)
c.2193G>T (p.Leu731=)
 dbSNP
7g.41967831C=CA1702661942GLI3c.2196G= (p.Leu732=)
c.2022G= (p.Leu674=)
n.2173G=
c.2019G= (p.Leu673=)
c.2193G= (p.Leu731=)
7g.41967831C>GCA454663527GLI3c.2196G>C (p.Leu732=)
c.2022G>C (p.Leu674=)
n.2173G>C
c.2019G>C (p.Leu673=)
c.2193G>C (p.Leu731=)
 dbSNP
7g.41967831C>TCA454663526GLI3c.2196G>A (p.Leu732=)
c.2022G>A (p.Leu674=)
n.2173G>A
c.2019G>A (p.Leu673=)
c.2193G>A (p.Leu731=)
 dbSNP
7g.41967832A>CCA367321596GLI3c.2195T>G (p.Leu732Arg)
c.2021T>G (p.Leu674Arg)
n.2172T>G
c.2018T>G (p.Leu673Arg)
c.2192T>G (p.Leu731Arg)
7g.41967832A>GCA367321597GLI3c.2195T>C (p.Leu732Pro)
c.2021T>C (p.Leu674Pro)
n.2172T>C
c.2018T>C (p.Leu673Pro)
c.2192T>C (p.Leu731Pro)
 dbSNP
7g.41967832A>TCA367321598GLI3c.2195T>A (p.Leu732Gln)
c.2021T>A (p.Leu674Gln)
n.2172T>A
c.2018T>A (p.Leu673Gln)
c.2192T>A (p.Leu731Gln)
7g.41967833G>ACA454663532GLI3c.2194C>T (p.Leu732=)
c.2020C>T (p.Leu674=)
n.2171C>T
c.2017C>T (p.Leu673=)
c.2191C>T (p.Leu731=)
 dbSNP
7g.41967833G>CCA367321599GLI3c.2194C>G (p.Leu732Val)
c.2020C>G (p.Leu674Val)
n.2171C>G
c.2017C>G (p.Leu673Val)
c.2191C>G (p.Leu731Val)
7g.41967833G>TCA367321600GLI3c.2194C>A (p.Leu732Met)
c.2020C>A (p.Leu674Met)
n.2171C>A
c.2017C>A (p.Leu673Met)
c.2191C>A (p.Leu731Met)
7g.41967834A>CCA454663534GLI3c.2193T>G (p.Pro731=)
c.2019T>G (p.Pro673=)
n.2170T>G
c.2016T>G (p.Pro672=)
c.2190T>G (p.Pro730=)
7g.41967834A>GCA454663535GLI3c.2193T>C (p.Pro731=)
c.2019T>C (p.Pro673=)
n.2170T>C
c.2016T>C (p.Pro672=)
c.2190T>C (p.Pro730=)
7g.41967834A>TCA454663536GLI3c.2193T>A (p.Pro731=)
c.2019T>A (p.Pro673=)
n.2170T>A
c.2016T>A (p.Pro672=)
c.2190T>A (p.Pro730=)
7g.41967835G>ACA367321601GLI3c.2192C>T (p.Pro731Leu)
c.2018C>T (p.Pro673Leu)
n.2169C>T
c.2015C>T (p.Pro672Leu)
c.2189C>T (p.Pro730Leu)
 dbSNP gnomAD v4 COSMIC
7g.41967835G>CCA367321602GLI3c.2192C>G (p.Pro731Arg)
c.2018C>G (p.Pro673Arg)
n.2169C>G
c.2015C>G (p.Pro672Arg)
c.2189C>G (p.Pro730Arg)
7g.41967835G>TCA367321603GLI3c.2192C>A (p.Pro731His)
c.2018C>A (p.Pro673His)
n.2169C>A
c.2015C>A (p.Pro672His)
c.2189C>A (p.Pro730His)
7g.41967836G>ACA367321605GLI3c.2191C>T (p.Pro731Ser)
c.2017C>T (p.Pro673Ser)
n.2168C>T
c.2014C>T (p.Pro672Ser)
c.2188C>T (p.Pro730Ser)
 dbSNP gnomAD v4 COSMIC
7g.41967836G>CCA156909403GLI3c.2191C>G (p.Pro731Ala)
c.2017C>G (p.Pro673Ala)
n.2168C>G
c.2014C>G (p.Pro672Ala)
c.2188C>G (p.Pro730Ala)
 dbSNP gnomAD v2 gnomAD v4
7g.41967836G=CA1702661943GLI3c.2191C= (p.Pro731=)
c.2017C= (p.Pro673=)
n.2168C=
c.2014C= (p.Pro672=)
c.2188C= (p.Pro730=)
7g.41967836G>TCA4230665GLI3c.2191C>A (p.Pro731Thr)
c.2017C>A (p.Pro673Thr)
n.2168C>A
c.2014C>A (p.Pro672Thr)
c.2188C>A (p.Pro730Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41967837A>CCA454663538GLI3c.2190T>G (p.Leu730=)
c.2016T>G (p.Leu672=)
n.2167T>G
c.2013T>G (p.Leu671=)
c.2187T>G (p.Leu729=)
7g.41967837A>GCA454663539GLI3c.2190T>C (p.Leu730=)
c.2016T>C (p.Leu672=)
n.2167T>C
c.2013T>C (p.Leu671=)
c.2187T>C (p.Leu729=)
 dbSNP
7g.41967837A>TCA454663541GLI3c.2190T>A (p.Leu730=)
c.2016T>A (p.Leu672=)
n.2167T>A
c.2013T>A (p.Leu671=)
c.2187T>A (p.Leu729=)
7g.41967838A=CA1702661944GLI3c.2189T= (p.Leu730=)
c.2015T= (p.Leu672=)
n.2166T=
c.2012T= (p.Leu671=)
c.2186T= (p.Leu729=)
7g.41967838A>CCA367321608GLI3c.2189T>G (p.Leu730Arg)
c.2015T>G (p.Leu672Arg)
n.2166T>G
c.2012T>G (p.Leu671Arg)
c.2186T>G (p.Leu729Arg)
 ClinVar dbSNP gnomAD v4
7g.41967838A>GCA4230666GLI3c.2189T>C (p.Leu730Pro)
c.2015T>C (p.Leu672Pro)
n.2166T>C
c.2012T>C (p.Leu671Pro)
c.2186T>C (p.Leu729Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41967838A>TCA367321607GLI3c.2189T>A (p.Leu730His)
c.2015T>A (p.Leu672His)
n.2166T>A
c.2012T>A (p.Leu671His)
c.2186T>A (p.Leu729His)
7g.41967839G>ACA367321609GLI3c.2188C>T (p.Leu730Phe)
c.2014C>T (p.Leu672Phe)
n.2165C>T
c.2011C>T (p.Leu671Phe)
c.2185C>T (p.Leu729Phe)
 dbSNP
7g.41967839G>CCA367321610GLI3c.2188C>G (p.Leu730Val)
c.2014C>G (p.Leu672Val)
n.2165C>G
c.2011C>G (p.Leu671Val)
c.2185C>G (p.Leu729Val)
7g.41967839G>TCA367321611GLI3c.2188C>A (p.Leu730Ile)
c.2014C>A (p.Leu672Ile)
n.2165C>A
c.2011C>A (p.Leu671Ile)
c.2185C>A (p.Leu729Ile)
 dbSNP
7g.41967840C>ACA367321612GLI3c.2187G>T (p.Glu729Asp)
c.2013G>T (p.Glu671Asp)
n.2164G>T
c.2010G>T (p.Glu670Asp)
c.2184G>T (p.Glu728Asp)
7g.41967840C>GCA367321613GLI3c.2187G>C (p.Glu729Asp)
c.2013G>C (p.Glu671Asp)
n.2164G>C
c.2010G>C (p.Glu670Asp)
c.2184G>C (p.Glu728Asp)
 dbSNP
7g.41967840C>TCA454663543GLI3c.2187G>A (p.Glu729=)
c.2013G>A (p.Glu671=)
n.2164G>A
c.2010G>A (p.Glu670=)
c.2184G>A (p.Glu728=)
 dbSNP
7g.41967841T>ACA367321614GLI3c.2186A>T (p.Glu729Val)
c.2012A>T (p.Glu671Val)
n.2163A>T
c.2009A>T (p.Glu670Val)
c.2183A>T (p.Glu728Val)
 dbSNP
7g.41967841T>CCA367321616GLI3c.2186A>G (p.Glu729Gly)
c.2012A>G (p.Glu671Gly)
n.2163A>G
c.2009A>G (p.Glu670Gly)
c.2183A>G (p.Glu728Gly)
7g.41967841T>GCA367321615GLI3c.2186A>C (p.Glu729Ala)
c.2012A>C (p.Glu671Ala)
n.2163A>C
c.2009A>C (p.Glu670Ala)
c.2183A>C (p.Glu728Ala)
7g.41967842C>ACA367321617GLI3c.2185G>T (p.Glu729Ter)
c.2011G>T (p.Glu671Ter)
n.2162G>T
c.2008G>T (p.Glu670Ter)
c.2182G>T (p.Glu728Ter)
 dbSNP
7g.41967842C=CA1702661945GLI3c.2185G= (p.Glu729=)
c.2011G= (p.Glu671=)
n.2162G=
c.2008G= (p.Glu670=)
c.2182G= (p.Glu728=)
7g.41967842C>GCA367321618GLI3c.2185G>C (p.Glu729Gln)
c.2011G>C (p.Glu671Gln)
n.2162G>C
c.2008G>C (p.Glu670Gln)
c.2182G>C (p.Glu728Gln)
 dbSNP
7g.41967842C>TCA4230667GLI3c.2185G>A (p.Glu729Lys)
c.2011G>A (p.Glu671Lys)
n.2162G>A
c.2008G>A (p.Glu670Lys)
c.2182G>A (p.Glu728Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41967843G>ACA4230668GLI3c.2184C>T (p.Leu728=)
c.2010C>T (p.Leu670=)
n.2161C>T
c.2007C>T (p.Leu669=)
c.2181C>T (p.Leu727=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41967843G>CCA454663550GLI3c.2184C>G (p.Leu728=)
c.2010C>G (p.Leu670=)
n.2161C>G
c.2007C>G (p.Leu669=)
c.2181C>G (p.Leu727=)
7g.41967843G=CA1702661946GLI3c.2184C= (p.Leu728=)
c.2010C= (p.Leu670=)
n.2161C=
c.2007C= (p.Leu669=)
c.2181C= (p.Leu727=)
7g.41967843G>TCA454663549GLI3c.2184C>A (p.Leu728=)
c.2010C>A (p.Leu670=)
n.2161C>A
c.2007C>A (p.Leu669=)
c.2181C>A (p.Leu727=)
7g.41967844A>CCA367321619GLI3c.2183T>G (p.Leu728Arg)
c.2009T>G (p.Leu670Arg)
n.2160T>G
c.2006T>G (p.Leu669Arg)
c.2180T>G (p.Leu727Arg)
7g.41967844A>GCA367321620GLI3c.2183T>C (p.Leu728Pro)
c.2009T>C (p.Leu670Pro)
n.2160T>C
c.2006T>C (p.Leu669Pro)
c.2180T>C (p.Leu727Pro)
7g.41967844A>TCA367321621GLI3c.2183T>A (p.Leu728His)
c.2009T>A (p.Leu670His)
n.2160T>A
c.2006T>A (p.Leu669His)
c.2180T>A (p.Leu727His)
7g.41967845G>ACA367321622GLI3c.2182C>T (p.Leu728Phe)
c.2008C>T (p.Leu670Phe)
n.2159C>T
c.2005C>T (p.Leu669Phe)
c.2179C>T (p.Leu727Phe)
 COSMIC
7g.41967845G>CCA4230669GLI3c.2182C>G (p.Leu728Val)
c.2008C>G (p.Leu670Val)
n.2159C>G
c.2005C>G (p.Leu669Val)
c.2179C>G (p.Leu727Val)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
7g.41967845G=CA1702661947GLI3c.2182C= (p.Leu728=)
c.2008C= (p.Leu670=)
n.2159C=
c.2005C= (p.Leu669=)
c.2179C= (p.Leu727=)
7g.41967845G>TCA367321623GLI3c.2182C>A (p.Leu728Ile)
c.2008C>A (p.Leu670Ile)
n.2159C>A
c.2005C>A (p.Leu669Ile)
c.2179C>A (p.Leu727Ile)
 gnomAD v4
7g.41967846C>ACA454663557GLI3c.2181G>T (p.Gly727=)
c.2007G>T (p.Gly669=)
n.2158G>T
c.2004G>T (p.Gly668=)
c.2178G>T (p.Gly726=)
7g.41967846C=CA1702661948GLI3c.2181G= (p.Gly727=)
c.2007G= (p.Gly669=)
n.2158G=
c.2004G= (p.Gly668=)
c.2178G= (p.Gly726=)
7g.41967846C>GCA454663558GLI3c.2181G>C (p.Gly727=)
c.2007G>C (p.Gly669=)
n.2158G>C
c.2004G>C (p.Gly668=)
c.2178G>C (p.Gly726=)
 dbSNP gnomAD v3 gnomAD v4
7g.41967846C>TCA156909462GLI3c.2181G>A (p.Gly727=)
c.2007G>A (p.Gly669=)
n.2158G>A
c.2004G>A (p.Gly668=)
c.2178G>A (p.Gly726=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
7g.41967847C>ACA367321625GLI3c.2180G>T (p.Gly727Val)
c.2006G>T (p.Gly669Val)
n.2157G>T
c.2003G>T (p.Gly668Val)
c.2177G>T (p.Gly726Val)
 dbSNP
7g.41967847C>GCA367321626GLI3c.2180G>C (p.Gly727Ala)
c.2006G>C (p.Gly669Ala)
n.2157G>C
c.2003G>C (p.Gly668Ala)
c.2177G>C (p.Gly726Ala)
7g.41967847C>TCA367321624GLI3c.2180G>A (p.Gly727Glu)
c.2006G>A (p.Gly669Glu)
n.2157G>A
c.2003G>A (p.Gly668Glu)
c.2177G>A (p.Gly726Glu)
 dbSNP gnomAD v4
7g.41967848C>ACA367321627GLI3c.2179G>T (p.Gly727Trp)
c.2005G>T (p.Gly669Trp)
n.2156G>T
c.2002G>T (p.Gly668Trp)
c.2176G>T (p.Gly726Trp)
7g.41967848C=CA1702661949GLI3c.2179G= (p.Gly727=)
c.2005G= (p.Gly669=)
n.2156G=
c.2002G= (p.Gly668=)
c.2176G= (p.Gly726=)
7g.41967848C>GCA367321628GLI3c.2179G>C (p.Gly727Arg)
c.2005G>C (p.Gly669Arg)
n.2156G>C
c.2002G>C (p.Gly668Arg)
c.2176G>C (p.Gly726Arg)
7g.41967848C>TCA123497GLI3c.2179G>A (p.Gly727Arg)
c.2005G>A (p.Gly669Arg)
n.2156G>A
c.2002G>A (p.Gly668Arg)
c.2176G>A (p.Gly726Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41967849A>CCA367321629GLI3c.2178T>G (p.Ser726Arg)
c.2004T>G (p.Ser668Arg)
n.2155T>G
c.2001T>G (p.Ser667Arg)
c.2175T>G (p.Ser725Arg)
7g.41967849A>GCA454663562GLI3c.2178T>C (p.Ser726=)
c.2004T>C (p.Ser668=)
n.2155T>C
c.2001T>C (p.Ser667=)
c.2175T>C (p.Ser725=)
7g.41967849A>TCA367321630GLI3c.2178T>A (p.Ser726Arg)
c.2004T>A (p.Ser668Arg)
n.2155T>A
c.2001T>A (p.Ser667Arg)
c.2175T>A (p.Ser725Arg)
 dbSNP
7g.41967850C>ACA367321631GLI3c.2177G>T (p.Ser726Ile)
c.2003G>T (p.Ser668Ile)
n.2154G>T
c.2000G>T (p.Ser667Ile)
c.2174G>T (p.Ser725Ile)
7g.41967850C>GCA367321632GLI3c.2177G>C (p.Ser726Thr)
c.2003G>C (p.Ser668Thr)
n.2154G>C
c.2000G>C (p.Ser667Thr)
c.2174G>C (p.Ser725Thr)
 gnomAD v4
7g.41967850C>TCA367321633GLI3c.2177G>A (p.Ser726Asn)
c.2003G>A (p.Ser668Asn)
n.2154G>A
c.2000G>A (p.Ser667Asn)
c.2174G>A (p.Ser725Asn)
 dbSNP
7g.41967851T>ACA367321634GLI3c.2176A>T (p.Ser726Cys)
c.2002A>T (p.Ser668Cys)
n.2153A>T
c.1999A>T (p.Ser667Cys)
c.2173A>T (p.Ser725Cys)
7g.41967851T>CCA367321635GLI3c.2176A>G (p.Ser726Gly)
c.2002A>G (p.Ser668Gly)
n.2153A>G
c.1999A>G (p.Ser667Gly)
c.2173A>G (p.Ser725Gly)
7g.41967851T>GCA367321636GLI3c.2176A>C (p.Ser726Arg)
c.2002A>C (p.Ser668Arg)
n.2153A>C
c.1999A>C (p.Ser667Arg)
c.2173A>C (p.Ser725Arg)
 gnomAD v4
7g.41967851_41967852insCCATCTCTCCCATTATTCTCTATAATACACA2714410302GLI3c.2175_2176insTGTATTATAGAGAATAATGGGAGAGATGG (p.Ser726CysfsTer17)
c.2001_2002insTGTATTATAGAGAATAATGGGAGAGATGG (p.Ser668CysfsTer17)
n.2152_2153insTGTATTATAGAGAATAATGGGAGAGATGG
c.1998_1999insTGTATTATAGAGAATAATGGGAGAGATGG (p.Ser667CysfsTer17)
c.2172_2173insTGTATTATAGAGAATAATGGGAGAGATGG (p.Ser725CysfsTer17)
 dbSNP
7g.41967852G>ACA454663566GLI3c.2175C>T (p.Asn725=)
c.2001C>T (p.Asn667=)
n.2152C>T
c.1998C>T (p.Asn666=)
c.2172C>T (p.Asn724=)
 gnomAD v4
7g.41967852G>CCA367321637GLI3c.2175C>G (p.Asn725Lys)
c.2001C>G (p.Asn667Lys)
n.2152C>G
c.1998C>G (p.Asn666Lys)
c.2172C>G (p.Asn724Lys)
7g.41967852G>TCA367321638GLI3c.2175C>A (p.Asn725Lys)
c.2001C>A (p.Asn667Lys)
n.2152C>A
c.1998C>A (p.Asn666Lys)
c.2172C>A (p.Asn724Lys)
 COSMIC
7g.41967853T>ACA367321640GLI3c.2174A>T (p.Asn725Ile)
c.2000A>T (p.Asn667Ile)
n.2151A>T
c.1997A>T (p.Asn666Ile)
c.2171A>T (p.Asn724Ile)
7g.41967853T>CCA367321639GLI3c.2174A>G (p.Asn725Ser)
c.2000A>G (p.Asn667Ser)
n.2151A>G
c.1997A>G (p.Asn666Ser)
c.2171A>G (p.Asn724Ser)
 gnomAD v4
7g.41967853T>GCA4230670GLI3c.2174A>C (p.Asn725Thr)
c.2000A>C (p.Asn667Thr)
n.2151A>C
c.1997A>C (p.Asn666Thr)
c.2171A>C (p.Asn724Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41967853T=CA1702661950GLI3c.2174A= (p.Asn725=)
c.2000A= (p.Asn667=)
n.2151A=
c.1997A= (p.Asn666=)
c.2171A= (p.Asn724=)
7g.41967854T>ACA367321641GLI3c.2173A>T (p.Asn725Tyr)
c.1999A>T (p.Asn667Tyr)
n.2150A>T
c.1996A>T (p.Asn666Tyr)
c.2170A>T (p.Asn724Tyr)
7g.41967854T>CCA367321642GLI3c.2173A>G (p.Asn725Asp)
c.1999A>G (p.Asn667Asp)
n.2150A>G
c.1996A>G (p.Asn666Asp)
c.2170A>G (p.Asn724Asp)
7g.41967854T>GCA367321643GLI3c.2173A>C (p.Asn725His)
c.1999A>C (p.Asn667His)
n.2150A>C
c.1996A>C (p.Asn666His)
c.2170A>C (p.Asn724His)
7g.41967854T=CA1702661951GLI3c.2173A= (p.Asn725=)
c.1999A= (p.Asn667=)
n.2150A=
c.1996A= (p.Asn666=)
c.2170A= (p.Asn724=)
7g.41967855G>ACA454663571GLI3c.2172C>T (p.Ser724=)
c.1998C>T (p.Ser666=)
n.2149C>T
c.1995C>T (p.Ser665=)
c.2169C>T (p.Ser723=)
 dbSNP
7g.41967855G>CCA454663572GLI3c.2172C>G (p.Ser724=)
c.1998C>G (p.Ser666=)
n.2149C>G
c.1995C>G (p.Ser665=)
c.2169C>G (p.Ser723=)
7g.41967855G>TCA454663573GLI3c.2172C>A (p.Ser724=)
c.1998C>A (p.Ser666=)
n.2149C>A
c.1995C>A (p.Ser665=)
c.2169C>A (p.Ser723=)
7g.41967856dupCA342926GLI3c.2172dup (p.Asn725GlnfsTer13)
c.1998dup (p.Asn667GlnfsTer13)
n.2149dup
c.1995dup (p.Asn666GlnfsTer13)
c.2169dup (p.Asn724GlnfsTer13)
 dbSNP
7g.41967856G>ACA367321644GLI3c.2171C>T (p.Ser724Phe)
c.1997C>T (p.Ser666Phe)
n.2148C>T
c.1994C>T (p.Ser665Phe)
c.2168C>T (p.Ser723Phe)
 dbSNP gnomAD v4
7g.41967856G>CCA367321645GLI3c.2171C>G (p.Ser724Cys)
c.1997C>G (p.Ser666Cys)
n.2148C>G
c.1994C>G (p.Ser665Cys)
c.2168C>G (p.Ser723Cys)
7g.41967856G>TCA367321646GLI3c.2171C>A (p.Ser724Tyr)
c.1997C>A (p.Ser666Tyr)
n.2148C>A
c.1994C>A (p.Ser665Tyr)
c.2168C>A (p.Ser723Tyr)
 gnomAD v4
7g.41967857A>CCA367321647GLI3c.2170T>G (p.Ser724Ala)
c.1996T>G (p.Ser666Ala)
n.2147T>G
c.1993T>G (p.Ser665Ala)
c.2167T>G (p.Ser723Ala)
7g.41967857A>GCA367321648GLI3c.2170T>C (p.Ser724Pro)
c.1996T>C (p.Ser666Pro)
n.2147T>C
c.1993T>C (p.Ser665Pro)
c.2167T>C (p.Ser723Pro)
 dbSNP
7g.41967857A>TCA367321649GLI3c.2170T>A (p.Ser724Thr)
c.1996T>A (p.Ser666Thr)
n.2147T>A
c.1993T>A (p.Ser665Thr)
c.2167T>A (p.Ser723Thr)
7g.41967858A>CCA367321650GLI3c.2169T>G (p.Tyr723Ter)
c.1995T>G (p.Tyr665Ter)
n.2146T>G
c.1992T>G (p.Tyr664Ter)
c.2166T>G (p.Tyr722Ter)
7g.41967858A>GCA454525111GLI3c.2169T>C (p.Tyr723=)
c.1995T>C (p.Tyr665=)
n.2146T>C
c.1992T>C (p.Tyr664=)
c.2166T>C (p.Tyr722=)
 gnomAD v4
7g.41967858A>TCA367321651GLI3c.2169T>A (p.Tyr723Ter)
c.1995T>A (p.Tyr665Ter)
n.2146T>A
c.1992T>A (p.Tyr664Ter)
c.2166T>A (p.Tyr722Ter)
7g.41967859T>ACA367321652GLI3c.2168A>T (p.Tyr723Phe)
c.1994A>T (p.Tyr665Phe)
n.2145A>T
c.1991A>T (p.Tyr664Phe)
c.2165A>T (p.Tyr722Phe)
 dbSNP
7g.41967859T>CCA367321653GLI3c.2168A>G (p.Tyr723Cys)
c.1994A>G (p.Tyr665Cys)
n.2145A>G
c.1991A>G (p.Tyr664Cys)
c.2165A>G (p.Tyr722Cys)
 gnomAD v4
7g.41967859T>GCA367321654GLI3c.2168A>C (p.Tyr723Ser)
c.1994A>C (p.Tyr665Ser)
n.2145A>C
c.1991A>C (p.Tyr664Ser)
c.2165A>C (p.Tyr722Ser)
7g.41967860A>CCA367321656GLI3c.2167T>G (p.Tyr723Asp)
c.1993T>G (p.Tyr665Asp)
n.2144T>G
c.1990T>G (p.Tyr664Asp)
c.2164T>G (p.Tyr722Asp)
7g.41967860A>GCA367321657GLI3c.2167T>C (p.Tyr723His)
c.1993T>C (p.Tyr665His)
n.2144T>C
c.1990T>C (p.Tyr664His)
c.2164T>C (p.Tyr722His)
7g.41967860A>TCA367321655GLI3c.2167T>A (p.Tyr723Asn)
c.1993T>A (p.Tyr665Asn)
n.2144T>A
c.1990T>A (p.Tyr664Asn)
c.2164T>A (p.Tyr722Asn)
7g.41967861G>ACA454525116GLI3c.2166C>T (p.Asn722=)
c.1992C>T (p.Asn664=)
n.2143C>T
c.1989C>T (p.Asn663=)
c.2163C>T (p.Asn721=)
 dbSNP
7g.41967861G>CCA367321658GLI3c.2166C>G (p.Asn722Lys)
c.1992C>G (p.Asn664Lys)
n.2143C>G
c.1989C>G (p.Asn663Lys)
c.2163C>G (p.Asn721Lys)
 dbSNP
7g.41967861G>TCA367321659GLI3c.2166C>A (p.Asn722Lys)
c.1992C>A (p.Asn664Lys)
n.2143C>A
c.1989C>A (p.Asn663Lys)
c.2163C>A (p.Asn721Lys)
7g.41967862T>ACA367321660GLI3c.2165A>T (p.Asn722Ile)
c.1991A>T (p.Asn664Ile)
n.2142A>T
c.1988A>T (p.Asn663Ile)
c.2162A>T (p.Asn721Ile)
 dbSNP
7g.41967862T>CCA4230671GLI3c.2165A>G (p.Asn722Ser)
c.1991A>G (p.Asn664Ser)
n.2142A>G
c.1988A>G (p.Asn663Ser)
c.2162A>G (p.Asn721Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41967862T>GCA367321661GLI3c.2165A>C (p.Asn722Thr)
c.1991A>C (p.Asn664Thr)
n.2142A>C
c.1988A>C (p.Asn663Thr)
c.2162A>C (p.Asn721Thr)
7g.41967862T=CA1702661952GLI3c.2165A= (p.Asn722=)
c.1991A= (p.Asn664=)
n.2142A=
c.1988A= (p.Asn663=)
c.2162A= (p.Asn721=)
7g.41967863T>ACA367321662GLI3c.2164A>T (p.Asn722Tyr)
c.1990A>T (p.Asn664Tyr)
n.2141A>T
c.1987A>T (p.Asn663Tyr)
c.2161A>T (p.Asn721Tyr)
 dbSNP
7g.41967863T>CCA367321663GLI3c.2164A>G (p.Asn722Asp)
c.1990A>G (p.Asn664Asp)
n.2141A>G
c.1987A>G (p.Asn663Asp)
c.2161A>G (p.Asn721Asp)
7g.41967863T>GCA367321664GLI3c.2164A>C (p.Asn722His)
c.1990A>C (p.Asn664His)
n.2141A>C
c.1987A>C (p.Asn663His)
c.2161A>C (p.Asn721His)
7g.41967864G>ACA454525124GLI3c.2163C>T (p.Ser721=)
c.1989C>T (p.Ser663=)
n.2140C>T
c.1986C>T (p.Ser662=)
c.2160C>T (p.Ser720=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.41967864G>CCA367321665GLI3c.2163C>G (p.Ser721Arg)
c.1989C>G (p.Ser663Arg)
n.2140C>G
c.1986C>G (p.Ser662Arg)
c.2160C>G (p.Ser720Arg)
 dbSNP
7g.41967864G=CA1702661953GLI3c.2163C= (p.Ser721=)
c.1989C= (p.Ser663=)
n.2140C=
c.1986C= (p.Ser662=)
c.2160C= (p.Ser720=)
7g.41967864G>TCA367321666GLI3c.2163C>A (p.Ser721Arg)
c.1989C>A (p.Ser663Arg)
n.2140C>A
c.1986C>A (p.Ser662Arg)
c.2160C>A (p.Ser720Arg)
7g.41967865C>ACA367321667GLI3c.2162G>T (p.Ser721Ile)
c.1988G>T (p.Ser663Ile)
n.2139G>T
c.1985G>T (p.Ser662Ile)
c.2159G>T (p.Ser720Ile)
7g.41967865C>GCA367321668GLI3c.2162G>C (p.Ser721Thr)
c.1988G>C (p.Ser663Thr)
n.2139G>C
c.1985G>C (p.Ser662Thr)
c.2159G>C (p.Ser720Thr)
 dbSNP
7g.41967865C>TCA367321669GLI3c.2162G>A (p.Ser721Asn)
c.1988G>A (p.Ser663Asn)
n.2139G>A
c.1985G>A (p.Ser662Asn)
c.2159G>A (p.Ser720Asn)
 dbSNP
7g.41967866T>ACA367321672GLI3c.2161A>T (p.Ser721Cys)
c.1987A>T (p.Ser663Cys)
n.2138A>T
c.1984A>T (p.Ser662Cys)
c.2158A>T (p.Ser720Cys)
7g.41967866T>CCA367321670GLI3c.2161A>G (p.Ser721Gly)
c.1987A>G (p.Ser663Gly)
n.2138A>G
c.1984A>G (p.Ser662Gly)
c.2158A>G (p.Ser720Gly)
7g.41967866T>GCA367321671GLI3c.2161A>C (p.Ser721Arg)
c.1987A>C (p.Ser663Arg)
n.2138A>C
c.1984A>C (p.Ser662Arg)
c.2158A>C (p.Ser720Arg)
7g.41967867G>ACA454525126GLI3c.2160C>T (p.Ile720=)
c.1986C>T (p.Ile662=)
n.2137C>T
c.1983C>T (p.Ile661=)
c.2157C>T (p.Ile719=)
7g.41967867G>CCA367321673GLI3c.2160C>G (p.Ile720Met)
c.1986C>G (p.Ile662Met)
n.2137C>G
c.1983C>G (p.Ile661Met)
c.2157C>G (p.Ile719Met)
7g.41967867G=CA1702661954GLI3c.2160C= (p.Ile720=)
c.1986C= (p.Ile662=)
n.2137C=
c.1983C= (p.Ile661=)
c.2157C= (p.Ile719=)
7g.41967867G>TCA4230672GLI3c.2160C>A (p.Ile720=)
c.1986C>A (p.Ile662=)
n.2137C>A
c.1983C>A (p.Ile661=)
c.2157C>A (p.Ile719=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41967868A=CA1702661955GLI3c.2159T= (p.Ile720=)
c.1985T= (p.Ile662=)
n.2136T=
c.1982T= (p.Ile661=)
c.2156T= (p.Ile719=)
7g.41967868A>CCA367321674GLI3c.2159T>G (p.Ile720Ser)
c.1985T>G (p.Ile662Ser)
n.2136T>G
c.1982T>G (p.Ile661Ser)
c.2156T>G (p.Ile719Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41967868A>GCA367321675GLI3c.2159T>C (p.Ile720Thr)
c.1985T>C (p.Ile662Thr)
n.2136T>C
c.1982T>C (p.Ile661Thr)
c.2156T>C (p.Ile719Thr)
 gnomAD v4
7g.41967868A>TCA367321676GLI3c.2159T>A (p.Ile720Asn)
c.1985T>A (p.Ile662Asn)
n.2136T>A
c.1982T>A (p.Ile661Asn)
c.2156T>A (p.Ile719Asn)
7g.41967869T>ACA367321677GLI3c.2158A>T (p.Ile720Phe)
c.1984A>T (p.Ile662Phe)
n.2135A>T
c.1981A>T (p.Ile661Phe)
c.2155A>T (p.Ile719Phe)
7g.41967869T>CCA367321678GLI3c.2158A>G (p.Ile720Val)
c.1984A>G (p.Ile662Val)
n.2135A>G
c.1981A>G (p.Ile661Val)
c.2155A>G (p.Ile719Val)
7g.41967869T>GCA367321679GLI3c.2158A>C (p.Ile720Leu)
c.1984A>C (p.Ile662Leu)
n.2135A>C
c.1981A>C (p.Ile661Leu)
c.2155A>C (p.Ile719Leu)
7g.41967869_41967870delinsTGCA1702661956GLI3c.2157_2158delinsCA (p.Pro719=)
c.1983_1984delinsCA (p.Pro661=)
n.2134_2135delinsCA
c.1980_1981delinsCA (p.Pro660=)
c.2154_2155delinsCA (p.Pro718=)
7g.41967870G>ACA454525132GLI3c.2157C>T (p.Pro719=)
c.1983C>T (p.Pro661=)
n.2134C>T
c.1980C>T (p.Pro660=)
c.2154C>T (p.Pro718=)
7g.41967870G>CCA454525133GLI3c.2157C>G (p.Pro719=)
c.1983C>G (p.Pro661=)
n.2134C>G
c.1980C>G (p.Pro660=)
c.2154C>G (p.Pro718=)
7g.41967870G>TCA454525135GLI3c.2157C>A (p.Pro719=)
c.1983C>A (p.Pro661=)
n.2134C>A
c.1980C>A (p.Pro660=)
c.2154C>A (p.Pro718=)
7g.41967874delCA342925GLI3c.2157del (p.Ile720SerfsTer13)
c.1983del (p.Ile662SerfsTer13)
n.2134del
c.1980del (p.Ile661SerfsTer13)
c.2154del (p.Ile719SerfsTer13)
 dbSNP
7g.41967871G>ACA367321680GLI3c.2156C>T (p.Pro719Leu)
c.1982C>T (p.Pro661Leu)
n.2133C>T
c.1979C>T (p.Pro660Leu)
c.2153C>T (p.Pro718Leu)
7g.41967871G>CCA367321681GLI3c.2156C>G (p.Pro719Arg)
c.1982C>G (p.Pro661Arg)
n.2133C>G
c.1979C>G (p.Pro660Arg)
c.2153C>G (p.Pro718Arg)
7g.41967871G>TCA367321682GLI3c.2156C>A (p.Pro719His)
c.1982C>A (p.Pro661His)
n.2133C>A
c.1979C>A (p.Pro660His)
c.2153C>A (p.Pro718His)
 gnomAD v4
7g.41967872G>ACA367321683GLI3c.2155C>T (p.Pro719Ser)
c.1981C>T (p.Pro661Ser)
n.2132C>T
c.1978C>T (p.Pro660Ser)
c.2152C>T (p.Pro718Ser)
7g.41967872G>CCA367321685GLI3c.2155C>G (p.Pro719Ala)
c.1981C>G (p.Pro661Ala)
n.2132C>G
c.1978C>G (p.Pro660Ala)
c.2152C>G (p.Pro718Ala)
7g.41967872G>TCA367321684GLI3c.2155C>A (p.Pro719Thr)
c.1981C>A (p.Pro661Thr)
n.2132C>A
c.1978C>A (p.Pro660Thr)
c.2152C>A (p.Pro718Thr)
7g.41967873G>ACA454525141GLI3c.2154C>T (p.Ser718=)
c.1980C>T (p.Ser660=)
n.2131C>T
c.1977C>T (p.Ser659=)
c.2151C>T (p.Ser717=)
 gnomAD v4
7g.41967873G>CCA454525143GLI3c.2154C>G (p.Ser718=)
c.1980C>G (p.Ser660=)
n.2131C>G
c.1977C>G (p.Ser659=)
c.2151C>G (p.Ser717=)
7g.41967873G>TCA454525145GLI3c.2154C>A (p.Ser718=)
c.1980C>A (p.Ser660=)
n.2131C>A
c.1977C>A (p.Ser659=)
c.2151C>A (p.Ser717=)
7g.41967874G>ACA367321686GLI3c.2153C>T (p.Ser718Phe)
c.1979C>T (p.Ser660Phe)
n.2130C>T
c.1976C>T (p.Ser659Phe)
c.2150C>T (p.Ser717Phe)
7g.41967874G>CCA367321688GLI3c.2153C>G (p.Ser718Cys)
c.1979C>G (p.Ser660Cys)
n.2130C>G
c.1976C>G (p.Ser659Cys)
c.2150C>G (p.Ser717Cys)
7g.41967874G>TCA367321687GLI3c.2153C>A (p.Ser718Tyr)
c.1979C>A (p.Ser660Tyr)
n.2130C>A
c.1976C>A (p.Ser659Tyr)
c.2150C>A (p.Ser717Tyr)
7g.41967875A>CCA367321689GLI3c.2152T>G (p.Ser718Ala)
c.1978T>G (p.Ser660Ala)
n.2129T>G
c.1975T>G (p.Ser659Ala)
c.2149T>G (p.Ser717Ala)
7g.41967875A>GCA367321690GLI3c.2152T>C (p.Ser718Pro)
c.1978T>C (p.Ser660Pro)
n.2129T>C
c.1975T>C (p.Ser659Pro)
c.2149T>C (p.Ser717Pro)
7g.41967875A>TCA367321691GLI3c.2152T>A (p.Ser718Thr)
c.1978T>A (p.Ser660Thr)
n.2129T>A
c.1975T>A (p.Ser659Thr)
c.2149T>A (p.Ser717Thr)
7g.41967876C>ACA367321692GLI3c.2151G>T (p.Gln717His)
c.1977G>T (p.Gln659His)
n.2128G>T
c.1974G>T (p.Gln658His)
c.2148G>T (p.Gln716His)
7g.41967876C=CA1702661957GLI3c.2151G= (p.Gln717=)
c.1977G= (p.Gln659=)
n.2128G=
c.1974G= (p.Gln658=)
c.2148G= (p.Gln716=)
7g.41967876C>GCA367321693GLI3c.2151G>C (p.Gln717His)
c.1977G>C (p.Gln659His)
n.2128G>C
c.1974G>C (p.Gln658His)
c.2148G>C (p.Gln716His)
7g.41967876C>TCA454525148GLI3c.2151G>A (p.Gln717=)
c.1977G>A (p.Gln659=)
n.2128G>A
c.1974G>A (p.Gln658=)
c.2148G>A (p.Gln716=)
 dbSNP
7g.41967877T>ACA367321694GLI3c.2150A>T (p.Gln717Leu)
c.1976A>T (p.Gln659Leu)
n.2127A>T
c.1973A>T (p.Gln658Leu)
c.2147A>T (p.Gln716Leu)
7g.41967877T>CCA367321695GLI3c.2150A>G (p.Gln717Arg)
c.1976A>G (p.Gln659Arg)
n.2127A>G
c.1973A>G (p.Gln658Arg)
c.2147A>G (p.Gln716Arg)
7g.41967877T>GCA367321696GLI3c.2150A>C (p.Gln717Pro)
c.1976A>C (p.Gln659Pro)
n.2127A>C
c.1973A>C (p.Gln658Pro)
c.2147A>C (p.Gln716Pro)
 gnomAD v4
7g.41967877_41967878insACA2695207646GLI3c.2149_2150insT (p.Gln717LeufsTer21)
c.1975_1976insT (p.Gln659LeufsTer21)
n.2126_2127insT
c.1972_1973insT (p.Gln658LeufsTer21)
c.2146_2147insT (p.Gln716LeufsTer21)
7g.41967878G>ACA342923GLI3c.2149C>T (p.Gln717Ter)
c.1975C>T (p.Gln659Ter)
n.2126C>T
c.1972C>T (p.Gln658Ter)
c.2146C>T (p.Gln716Ter)
 ClinVar dbSNP
7g.41967878G>CCA367321697GLI3c.2149C>G (p.Gln717Glu)
c.1975C>G (p.Gln659Glu)
n.2126C>G
c.1972C>G (p.Gln658Glu)
c.2146C>G (p.Gln716Glu)
7g.41967878G=CA1702661958GLI3c.2149C= (p.Gln717=)
c.1975C= (p.Gln659=)
n.2126C=
c.1972C= (p.Gln658=)
c.2146C= (p.Gln716=)
7g.41967878G>TCA367321698GLI3c.2149C>A (p.Gln717Lys)
c.1975C>A (p.Gln659Lys)
n.2126C>A
c.1972C>A (p.Gln658Lys)
c.2146C>A (p.Gln716Lys)
7g.41967879T>ACA367321699GLI3c.2148A>T (p.Gln716His)
c.1974A>T (p.Gln658His)
n.2125A>T
c.1971A>T (p.Gln657His)
c.2145A>T (p.Gln715His)
7g.41967879T>CCA156909509GLI3c.2148A>G (p.Gln716=)
c.1974A>G (p.Gln658=)
n.2125A>G
c.1971A>G (p.Gln657=)
c.2145A>G (p.Gln715=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41967879T>GCA367321700GLI3c.2148A>C (p.Gln716His)
c.1974A>C (p.Gln658His)
n.2125A>C
c.1971A>C (p.Gln657His)
c.2145A>C (p.Gln715His)
7g.41967879T=CA1702661959GLI3c.2148A= (p.Gln716=)
c.1974A= (p.Gln658=)
n.2125A=
c.1971A= (p.Gln657=)
c.2145A= (p.Gln715=)
7g.41967880delCA2695207647GLI3c.2148del (p.Gln716HisfsTer17)
c.1974del (p.Gln658HisfsTer17)
n.2125del
c.1971del (p.Gln657HisfsTer17)
c.2145del (p.Gln715HisfsTer17)
7g.41967880T>ACA367321701GLI3c.2147A>T (p.Gln716Leu)
c.1973A>T (p.Gln658Leu)
n.2124A>T
c.1970A>T (p.Gln657Leu)
c.2144A>T (p.Gln715Leu)
7g.41967880T>CCA367321703GLI3c.2147A>G (p.Gln716Arg)
c.1973A>G (p.Gln658Arg)
n.2124A>G
c.1970A>G (p.Gln657Arg)
c.2144A>G (p.Gln715Arg)
7g.41967880T>GCA367321702GLI3c.2147A>C (p.Gln716Pro)
c.1973A>C (p.Gln658Pro)
n.2124A>C
c.1970A>C (p.Gln657Pro)
c.2144A>C (p.Gln715Pro)
7g.41967881G>ACA342921GLI3c.2146C>T (p.Gln716Ter)
c.1972C>T (p.Gln658Ter)
n.2123C>T
c.1969C>T (p.Gln657Ter)
c.2143C>T (p.Gln715Ter)
 dbSNP
7g.41967881G>CCA367321704GLI3c.2146C>G (p.Gln716Glu)
c.1972C>G (p.Gln658Glu)
n.2123C>G
c.1969C>G (p.Gln657Glu)
c.2143C>G (p.Gln715Glu)
7g.41967881G=CA1702661960GLI3c.2146C= (p.Gln716=)
c.1972C= (p.Gln658=)
n.2123C=
c.1969C= (p.Gln657=)
c.2143C= (p.Gln715=)
7g.41967881G>TCA367321705GLI3c.2146C>A (p.Gln716Lys)
c.1972C>A (p.Gln658Lys)
n.2123C>A
c.1969C>A (p.Gln657Lys)
c.2143C>A (p.Gln715Lys)
7g.41967882delCA2580077129GLI3c.2146del (p.Gln716AsnfsTer17)
c.1972del (p.Gln658AsnfsTer17)
n.2123del
c.1969del (p.Gln657AsnfsTer17)
c.2143del (p.Gln715AsnfsTer17)
 ClinVar
7g.41967882G>ACA454525155GLI3c.2145C>T (p.Ser715=)
c.1971C>T (p.Ser657=)
n.2122C>T
c.1968C>T (p.Ser656=)
c.2142C>T (p.Ser714=)
7g.41967882G>CCA367321706GLI3c.2145C>G (p.Ser715Arg)
c.1971C>G (p.Ser657Arg)
n.2122C>G
c.1968C>G (p.Ser656Arg)
c.2142C>G (p.Ser714Arg)
7g.41967882G>TCA367321707GLI3c.2145C>A (p.Ser715Arg)
c.1971C>A (p.Ser657Arg)
n.2122C>A
c.1968C>A (p.Ser656Arg)
c.2142C>A (p.Ser714Arg)
7g.41967883C>ACA367321708GLI3c.2144G>T (p.Ser715Ile)
c.1970G>T (p.Ser657Ile)
n.2121G>T
c.1967G>T (p.Ser656Ile)
c.2141G>T (p.Ser714Ile)
 gnomAD v4 COSMIC
7g.41967883C=CA1702661961GLI3c.2144G= (p.Ser715=)
c.1970G= (p.Ser657=)
n.2121G=
c.1967G= (p.Ser656=)
c.2141G= (p.Ser714=)
7g.41967883C>GCA367321709GLI3c.2144G>C (p.Ser715Thr)
c.1970G>C (p.Ser657Thr)
n.2121G>C
c.1967G>C (p.Ser656Thr)
c.2141G>C (p.Ser714Thr)
7g.41967883C>TCA4230673GLI3c.2144G>A (p.Ser715Asn)
c.1970G>A (p.Ser657Asn)
n.2121G>A
c.1967G>A (p.Ser656Asn)
c.2141G>A (p.Ser714Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.41967884T>ACA367321710GLI3c.2143A>T (p.Ser715Cys)
c.1969A>T (p.Ser657Cys)
n.2120A>T
c.1966A>T (p.Ser656Cys)
c.2140A>T (p.Ser714Cys)
7g.41967884T>CCA367321711GLI3c.2143A>G (p.Ser715Gly)
c.1969A>G (p.Ser657Gly)
n.2120A>G
c.1966A>G (p.Ser656Gly)
c.2140A>G (p.Ser714Gly)
7g.41967884T>GCA367321712GLI3c.2143A>C (p.Ser715Arg)
c.1969A>C (p.Ser657Arg)
n.2120A>C
c.1966A>C (p.Ser656Arg)
c.2140A>C (p.Ser714Arg)
7g.41967885G>ACA454525160GLI3c.2142C>T (p.Ser714=)
c.1968C>T (p.Ser656=)
n.2119C>T
c.1965C>T (p.Ser655=)
c.2139C>T (p.Ser713=)
 dbSNP gnomAD v4
7g.41967885G>CCA367321713GLI3c.2142C>G (p.Ser714Arg)
c.1968C>G (p.Ser656Arg)
n.2119C>G
c.1965C>G (p.Ser655Arg)
c.2139C>G (p.Ser713Arg)
7g.41967885G=CA1702661962GLI3c.2142C= (p.Ser714=)
c.1968C= (p.Ser656=)
n.2119C=
c.1965C= (p.Ser655=)
c.2139C= (p.Ser713=)
7g.41967885G>TCA367321714GLI3c.2142C>A (p.Ser714Arg)
c.1968C>A (p.Ser656Arg)
n.2119C>A
c.1965C>A (p.Ser655Arg)
c.2139C>A (p.Ser713Arg)
7g.41967886C>ACA367321715GLI3c.2141G>T (p.Ser714Ile)
c.1967G>T (p.Ser656Ile)
n.2118G>T
c.1964G>T (p.Ser655Ile)
c.2138G>T (p.Ser713Ile)
 COSMIC
7g.41967886C>GCA367321716GLI3c.2141G>C (p.Ser714Thr)
c.1967G>C (p.Ser656Thr)
n.2118G>C
c.1964G>C (p.Ser655Thr)
c.2138G>C (p.Ser713Thr)
7g.41967886C>TCA367321717GLI3c.2141G>A (p.Ser714Asn)
c.1967G>A (p.Ser656Asn)
n.2118G>A
c.1964G>A (p.Ser655Asn)
c.2138G>A (p.Ser713Asn)
7g.41967887T>ACA367321718GLI3c.2140A>T (p.Ser714Cys)
c.1966A>T (p.Ser656Cys)
n.2117A>T
c.1963A>T (p.Ser655Cys)
c.2137A>T (p.Ser713Cys)
7g.41967887T>CCA367321719GLI3c.2140A>G (p.Ser714Gly)
c.1966A>G (p.Ser656Gly)
n.2117A>G
c.1963A>G (p.Ser655Gly)
c.2137A>G (p.Ser713Gly)
7g.41967887T>GCA367321720GLI3c.2140A>C (p.Ser714Arg)
c.1966A>C (p.Ser656Arg)
n.2117A>C
c.1963A>C (p.Ser655Arg)
c.2137A>C (p.Ser713Arg)
7g.41967887_41967888delinsTGCA1702661963GLI3c.2139_2140delinsCA (p.Cys713=)
c.1965_1966delinsCA (p.Cys655=)
n.2116_2117delinsCA
c.1962_1963delinsCA (p.Cys654=)
c.2136_2137delinsCA (p.Cys712=)
7g.41967888delCA342920GLI3c.2139del (p.Cys713Ter)
c.1965del (p.Cys655Ter)
n.2116del
c.1962del (p.Cys654Ter)
c.2136del (p.Cys712Ter)
 dbSNP
7g.41967888G>ACA454525164GLI3c.2139C>T (p.Cys713=)
c.1965C>T (p.Cys655=)
n.2116C>T
c.1962C>T (p.Cys654=)
c.2136C>T (p.Cys712=)
7g.41967888G>CCA367321721GLI3c.2139C>G (p.Cys713Trp)
c.1965C>G (p.Cys655Trp)
n.2116C>G
c.1962C>G (p.Cys654Trp)
c.2136C>G (p.Cys712Trp)
 gnomAD v4
7g.41967888G>TCA367321722GLI3c.2139C>A (p.Cys713Ter)
c.1965C>A (p.Cys655Ter)
n.2116C>A
c.1962C>A (p.Cys654Ter)
c.2136C>A (p.Cys712Ter)
7g.41967889C>ACA367321723GLI3c.2138G>T (p.Cys713Phe)
c.1964G>T (p.Cys655Phe)
n.2115G>T
c.1961G>T (p.Cys654Phe)
c.2135G>T (p.Cys712Phe)
7g.41967889C>GCA367321724GLI3c.2138G>C (p.Cys713Ser)
c.1964G>C (p.Cys655Ser)
n.2115G>C
c.1961G>C (p.Cys654Ser)
c.2135G>C (p.Cys712Ser)
7g.41967889C>TCA367321725GLI3c.2138G>A (p.Cys713Tyr)
c.1964G>A (p.Cys655Tyr)
n.2115G>A
c.1961G>A (p.Cys654Tyr)
c.2135G>A (p.Cys712Tyr)
7g.41967890A>CCA367321727GLI3c.2137T>G (p.Cys713Gly)
c.1963T>G (p.Cys655Gly)
n.2114T>G
c.1960T>G (p.Cys654Gly)
c.2134T>G (p.Cys712Gly)
7g.41967890A>GCA367321728GLI3c.2137T>C (p.Cys713Arg)
c.1963T>C (p.Cys655Arg)
n.2114T>C
c.1960T>C (p.Cys654Arg)
c.2134T>C (p.Cys712Arg)
 ClinVar
7g.41967890A>TCA367321726GLI3c.2137T>A (p.Cys713Ser)
c.1963T>A (p.Cys655Ser)
n.2114T>A
c.1960T>A (p.Cys654Ser)
c.2134T>A (p.Cys712Ser)
7g.41967891T>ACA454525171GLI3c.2136A>T (p.Ser712=)
c.1962A>T (p.Ser654=)
n.2113A>T
c.1959A>T (p.Ser653=)
c.2133A>T (p.Ser711=)
7g.41967891T>CCA454525172GLI3c.2136A>G (p.Ser712=)
c.1962A>G (p.Ser654=)
n.2113A>G
c.1959A>G (p.Ser653=)
c.2133A>G (p.Ser711=)
7g.41967891T>GCA454525173GLI3c.2136A>C (p.Ser712=)
c.1962A>C (p.Ser654=)
n.2113A>C
c.1959A>C (p.Ser653=)
c.2133A>C (p.Ser711=)
7g.41967892G>ACA367321729GLI3c.2135C>T (p.Ser712Leu)
c.1961C>T (p.Ser654Leu)
n.2112C>T
c.1958C>T (p.Ser653Leu)
c.2132C>T (p.Ser711Leu)
7g.41967892G>CCA367321730GLI3c.2135C>G (p.Ser712Ter)
c.1961C>G (p.Ser654Ter)
n.2112C>G
c.1958C>G (p.Ser653Ter)
c.2132C>G (p.Ser711Ter)
7g.41967892G>TCA367321731GLI3c.2135C>A (p.Ser712Ter)
c.1961C>A (p.Ser654Ter)
n.2112C>A
c.1958C>A (p.Ser653Ter)
c.2132C>A (p.Ser711Ter)
7g.41967893A>CCA367321732GLI3c.2134T>G (p.Ser712Ala)
c.1960T>G (p.Ser654Ala)
n.2111T>G
c.1957T>G (p.Ser653Ala)
c.2131T>G (p.Ser711Ala)
7g.41967893A>GCA367321733GLI3c.2134T>C (p.Ser712Pro)
c.1960T>C (p.Ser654Pro)
n.2111T>C
c.1957T>C (p.Ser653Pro)
c.2131T>C (p.Ser711Pro)
 ClinVar dbSNP
7g.41967893A>TCA367321734GLI3c.2134T>A (p.Ser712Thr)
c.1960T>A (p.Ser654Thr)
n.2111T>A
c.1957T>A (p.Ser653Thr)
c.2131T>A (p.Ser711Thr)
7g.41967894A>CCA454525175GLI3c.2133T>G (p.Ser711=)
c.1959T>G (p.Ser653=)
n.2110T>G
c.1956T>G (p.Ser652=)
c.2130T>G (p.Ser710=)
7g.41967894A>GCA454525176GLI3c.2133T>C (p.Ser711=)
c.1959T>C (p.Ser653=)
n.2110T>C
c.1956T>C (p.Ser652=)
c.2130T>C (p.Ser710=)
7g.41967894A>TCA454525178GLI3c.2133T>A (p.Ser711=)
c.1959T>A (p.Ser653=)
n.2110T>A
c.1956T>A (p.Ser652=)
c.2130T>A (p.Ser710=)
7g.41967895G>ACA367321735GLI3c.2132C>T (p.Ser711Phe)
c.1958C>T (p.Ser653Phe)
n.2109C>T
c.1955C>T (p.Ser652Phe)
c.2129C>T (p.Ser710Phe)
7g.41967895G>CCA367321737GLI3c.2132C>G (p.Ser711Cys)
c.1958C>G (p.Ser653Cys)
n.2109C>G
c.1955C>G (p.Ser652Cys)
c.2129C>G (p.Ser710Cys)
7g.41967895G>TCA367321736GLI3c.2132C>A (p.Ser711Tyr)
c.1958C>A (p.Ser653Tyr)
n.2109C>A
c.1955C>A (p.Ser652Tyr)
c.2129C>A (p.Ser710Tyr)
7g.41967896A>CCA367321738GLI3c.2131T>G (p.Ser711Ala)
c.1957T>G (p.Ser653Ala)
n.2108T>G
c.1954T>G (p.Ser652Ala)
c.2128T>G (p.Ser710Ala)
7g.41967896A>GCA367321739GLI3c.2131T>C (p.Ser711Pro)
c.1957T>C (p.Ser653Pro)
n.2108T>C
c.1954T>C (p.Ser652Pro)
c.2128T>C (p.Ser710Pro)
7g.41967896A>TCA367321740GLI3c.2131T>A (p.Ser711Thr)
c.1957T>A (p.Ser653Thr)
n.2108T>A
c.1954T>A (p.Ser652Thr)
c.2128T>A (p.Ser710Thr)
7g.41967897C>ACA4230674GLI3c.2130G>T (p.Gln710His)
c.1956G>T (p.Gln652His)
n.2107G>T
c.1953G>T (p.Gln651His)
c.2127G>T (p.Gln709His)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41967897C=CA1702661964GLI3c.2130G= (p.Gln710=)
c.1956G= (p.Gln652=)
n.2107G=
c.1953G= (p.Gln651=)
c.2127G= (p.Gln709=)
7g.41967897C>GCA367321741GLI3c.2130G>C (p.Gln710His)
c.1956G>C (p.Gln652His)
n.2107G>C
c.1953G>C (p.Gln651His)
c.2127G>C (p.Gln709His)
7g.41967897C>TCA454525179GLI3c.2130G>A (p.Gln710=)
c.1956G>A (p.Gln652=)
n.2107G>A
c.1953G>A (p.Gln651=)
c.2127G>A (p.Gln709=)
7g.41967898T>ACA367321743GLI3c.2129A>T (p.Gln710Leu)
c.1955A>T (p.Gln652Leu)
n.2106A>T
c.1952A>T (p.Gln651Leu)
c.2126A>T (p.Gln709Leu)
7g.41967898T>CCA367321744GLI3c.2129A>G (p.Gln710Arg)
c.1955A>G (p.Gln652Arg)
n.2106A>G
c.1952A>G (p.Gln651Arg)
c.2126A>G (p.Gln709Arg)
7g.41967898T>GCA367321742GLI3c.2129A>C (p.Gln710Pro)
c.1955A>C (p.Gln652Pro)
n.2106A>C
c.1952A>C (p.Gln651Pro)
c.2126A>C (p.Gln709Pro)
7g.41967899G>ACA367321746GLI3c.2128C>T (p.Gln710Ter)
c.1954C>T (p.Gln652Ter)
n.2105C>T
c.1951C>T (p.Gln651Ter)
c.2125C>T (p.Gln709Ter)
7g.41967899G>CCA367321745GLI3c.2128C>G (p.Gln710Glu)
c.1954C>G (p.Gln652Glu)
n.2105C>G
c.1951C>G (p.Gln651Glu)
c.2125C>G (p.Gln709Glu)
 gnomAD v4
7g.41967899G>TCA367321747GLI3c.2128C>A (p.Gln710Lys)
c.1954C>A (p.Gln652Lys)
n.2105C>A
c.1951C>A (p.Gln651Lys)
c.2125C>A (p.Gln709Lys)
7g.41967900A>CCA454525183GLI3c.2127T>G (p.Gly709=)
c.1953T>G (p.Gly651=)
n.2104T>G
c.1950T>G (p.Gly650=)
c.2124T>G (p.Gly708=)
7g.41967900A>GCA454525184GLI3c.2127T>C (p.Gly709=)
c.1953T>C (p.Gly651=)
n.2104T>C
c.1950T>C (p.Gly650=)
c.2124T>C (p.Gly708=)
7g.41967900A>TCA454525185GLI3c.2127T>A (p.Gly709=)
c.1953T>A (p.Gly651=)
n.2104T>A
c.1950T>A (p.Gly650=)
c.2124T>A (p.Gly708=)
7g.41967901C>ACA367321748GLI3c.2126G>T (p.Gly709Val)
c.1952G>T (p.Gly651Val)
n.2103G>T
c.1949G>T (p.Gly650Val)
c.2123G>T (p.Gly708Val)
7g.41967901C>GCA367321750GLI3c.2126G>C (p.Gly709Ala)
c.1952G>C (p.Gly651Ala)
n.2103G>C
c.1949G>C (p.Gly650Ala)
c.2123G>C (p.Gly708Ala)
7g.41967901C>TCA367321749GLI3c.2126G>A (p.Gly709Asp)
c.1952G>A (p.Gly651Asp)
n.2103G>A
c.1949G>A (p.Gly650Asp)
c.2123G>A (p.Gly708Asp)
7g.41967902_41967905delCA2695207650GLI3c.2123_2126del (p.Gly708ValfsTer24)
c.1949_1952del (p.Gly650ValfsTer24)
n.2100_2103del
c.1946_1949del (p.Gly649ValfsTer24)
c.2120_2123del (p.Gly707ValfsTer24)
7g.41967902C>ACA367321751GLI3c.2125G>T (p.Gly709Cys)
c.1951G>T (p.Gly651Cys)
n.2102G>T
c.1948G>T (p.Gly650Cys)
c.2122G>T (p.Gly708Cys)
 gnomAD v4
7g.41967902C>GCA367321753GLI3c.2125G>C (p.Gly709Arg)
c.1951G>C (p.Gly651Arg)
n.2102G>C
c.1948G>C (p.Gly650Arg)
c.2122G>C (p.Gly708Arg)
7g.41967902C>TCA367321752GLI3c.2125G>A (p.Gly709Ser)
c.1951G>A (p.Gly651Ser)
n.2102G>A
c.1948G>A (p.Gly650Ser)
c.2122G>A (p.Gly708Ser)
7g.41967903A>CCA454525187GLI3c.2124T>G (p.Gly708=)
c.1950T>G (p.Gly650=)
n.2101T>G
c.1947T>G (p.Gly649=)
c.2121T>G (p.Gly707=)
7g.41967903A>GCA454525188GLI3c.2124T>C (p.Gly708=)
c.1950T>C (p.Gly650=)
n.2101T>C
c.1947T>C (p.Gly649=)
c.2121T>C (p.Gly707=)
7g.41967903A>TCA454525190GLI3c.2124T>A (p.Gly708=)
c.1950T>A (p.Gly650=)
n.2101T>A
c.1947T>A (p.Gly649=)
c.2121T>A (p.Gly707=)
7g.41967904C>ACA367321754GLI3c.2123G>T (p.Gly708Val)
c.1949G>T (p.Gly650Val)
n.2100G>T
c.1946G>T (p.Gly649Val)
c.2120G>T (p.Gly707Val)
7g.41967904C>GCA367321756GLI3c.2123G>C (p.Gly708Ala)
c.1949G>C (p.Gly650Ala)
n.2100G>C
c.1946G>C (p.Gly649Ala)
c.2120G>C (p.Gly707Ala)
 gnomAD v4
7g.41967904C>TCA367321755GLI3c.2123G>A (p.Gly708Asp)
c.1949G>A (p.Gly650Asp)
n.2100G>A
c.1946G>A (p.Gly649Asp)
c.2120G>A (p.Gly707Asp)
7g.41967905C>ACA367321757GLI3c.2122G>T (p.Gly708Cys)
c.1948G>T (p.Gly650Cys)
n.2099G>T
c.1945G>T (p.Gly649Cys)
c.2119G>T (p.Gly707Cys)
7g.41967905C>GCA367321759GLI3c.2122G>C (p.Gly708Arg)
c.1948G>C (p.Gly650Arg)
n.2099G>C
c.1945G>C (p.Gly649Arg)
c.2119G>C (p.Gly707Arg)
7g.41967905C>TCA367321758GLI3c.2122G>A (p.Gly708Ser)
c.1948G>A (p.Gly650Ser)
n.2099G>A
c.1945G>A (p.Gly649Ser)
c.2119G>A (p.Gly707Ser)
7g.41967906A>CCA454525192GLI3c.2121T>G (p.Pro707=)
c.1947T>G (p.Pro649=)
n.2098T>G
c.1944T>G (p.Pro648=)
c.2118T>G (p.Pro706=)
7g.41967906A>GCA454525193GLI3c.2121T>C (p.Pro707=)
c.1947T>C (p.Pro649=)
n.2098T>C
c.1944T>C (p.Pro648=)
c.2118T>C (p.Pro706=)
7g.41967906A>TCA454525191GLI3c.2121T>A (p.Pro707=)
c.1947T>A (p.Pro649=)
n.2098T>A
c.1944T>A (p.Pro648=)
c.2118T>A (p.Pro706=)
7g.41967907G>ACA367321760GLI3c.2120C>T (p.Pro707Leu)
c.1946C>T (p.Pro649Leu)
n.2097C>T
c.1943C>T (p.Pro648Leu)
c.2117C>T (p.Pro706Leu)
7g.41967907G>CCA367321762GLI3c.2120C>G (p.Pro707Arg)
c.1946C>G (p.Pro649Arg)
n.2097C>G
c.1943C>G (p.Pro648Arg)
c.2117C>G (p.Pro706Arg)
7g.41967907G>TCA367321761GLI3c.2120C>A (p.Pro707His)
c.1946C>A (p.Pro649His)
n.2097C>A
c.1943C>A (p.Pro648His)
c.2117C>A (p.Pro706His)
7g.41967908G>ACA256987GLI3c.2119C>T (p.Pro707Ser)
c.1945C>T (p.Pro649Ser)
n.2096C>T
c.1942C>T (p.Pro648Ser)
c.2116C>T (p.Pro706Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.41967908G>CCA367321764GLI3c.2119C>G (p.Pro707Ala)
c.1945C>G (p.Pro649Ala)
n.2096C>G
c.1942C>G (p.Pro648Ala)
c.2116C>G (p.Pro706Ala)
7g.41967908G=CA1702661965GLI3c.2119C= (p.Pro707=)
c.1945C= (p.Pro649=)
n.2096C=
c.1942C= (p.Pro648=)
c.2116C= (p.Pro706=)
7g.41967908G>TCA367321763GLI3c.2119C>A (p.Pro707Thr)
c.1945C>A (p.Pro649Thr)
n.2096C>A
c.1942C>A (p.Pro648Thr)
c.2116C>A (p.Pro706Thr)
7g.41967909G>ACA454525194GLI3c.2118C>T (p.Ser706=)
c.1944C>T (p.Ser648=)
n.2095C>T
c.1941C>T (p.Ser647=)
c.2115C>T (p.Ser705=)
 gnomAD v4
7g.41967909G>CCA367321765GLI3c.2118C>G (p.Ser706Arg)
c.1944C>G (p.Ser648Arg)
n.2095C>G
c.1941C>G (p.Ser647Arg)
c.2115C>G (p.Ser705Arg)
7g.41967909G>TCA367321766GLI3c.2118C>A (p.Ser706Arg)
c.1944C>A (p.Ser648Arg)
n.2095C>A
c.1941C>A (p.Ser647Arg)
c.2115C>A (p.Ser705Arg)
 gnomAD v4
7g.41967910C>ACA367321767GLI3c.2117G>T (p.Ser706Ile)
c.1943G>T (p.Ser648Ile)
n.2094G>T
c.1940G>T (p.Ser647Ile)
c.2114G>T (p.Ser705Ile)
7g.41967910C=CA1702661966GLI3c.2117G= (p.Ser706=)
c.1943G= (p.Ser648=)
n.2094G=
c.1940G= (p.Ser647=)
c.2114G= (p.Ser705=)
7g.41967910C>GCA367321769GLI3c.2117G>C (p.Ser706Thr)
c.1943G>C (p.Ser648Thr)
n.2094G>C
c.1940G>C (p.Ser647Thr)
c.2114G>C (p.Ser705Thr)
7g.41967910C>TCA367321768GLI3c.2117G>A (p.Ser706Asn)
c.1943G>A (p.Ser648Asn)
n.2094G>A
c.1940G>A (p.Ser647Asn)
c.2114G>A (p.Ser705Asn)
 dbSNP gnomAD v2 gnomAD v4
7g.41967911T>ACA367321770GLI3c.2116A>T (p.Ser706Cys)
c.1942A>T (p.Ser648Cys)
n.2093A>T
c.1939A>T (p.Ser647Cys)
c.2113A>T (p.Ser705Cys)
 dbSNP COSMIC
7g.41967911T>CCA367321771GLI3c.2116A>G (p.Ser706Gly)
c.1942A>G (p.Ser648Gly)
n.2093A>G
c.1939A>G (p.Ser647Gly)
c.2113A>G (p.Ser705Gly)
7g.41967911T>GCA367321772GLI3c.2116A>C (p.Ser706Arg)
c.1942A>C (p.Ser648Arg)
n.2093A>C
c.1939A>C (p.Ser647Arg)
c.2113A>C (p.Ser705Arg)
7g.41967911T=CA1702661967GLI3c.2116A= (p.Ser706=)
c.1942A= (p.Ser648=)
n.2093A=
c.1939A= (p.Ser647=)
c.2113A= (p.Ser705=)
7g.41967912T>ACA454525195GLI3c.2115A>T (p.Pro705=)
c.1941A>T (p.Pro647=)
n.2092A>T
c.1938A>T (p.Pro646=)
c.2112A>T (p.Pro704=)
7g.41967912T>CCA454525196GLI3c.2115A>G (p.Pro705=)
c.1941A>G (p.Pro647=)
n.2092A>G
c.1938A>G (p.Pro646=)
c.2112A>G (p.Pro704=)
7g.41967912T>GCA454525197GLI3c.2115A>C (p.Pro705=)
c.1941A>C (p.Pro647=)
n.2092A>C
c.1938A>C (p.Pro646=)
c.2112A>C (p.Pro704=)
7g.41967913G>ACA367321773GLI3c.2114C>T (p.Pro705Leu)
c.1940C>T (p.Pro647Leu)
n.2091C>T
c.1937C>T (p.Pro646Leu)
c.2111C>T (p.Pro704Leu)
7g.41967913G>CCA367321774GLI3c.2114C>G (p.Pro705Arg)
c.1940C>G (p.Pro647Arg)
n.2091C>G
c.1937C>G (p.Pro646Arg)
c.2111C>G (p.Pro704Arg)
7g.41967913G>TCA367321775GLI3c.2114C>A (p.Pro705Gln)
c.1940C>A (p.Pro647Gln)
n.2091C>A
c.1937C>A (p.Pro646Gln)
c.2111C>A (p.Pro704Gln)
 COSMIC
7g.41967914G>ACA367321776GLI3c.2113C>T (p.Pro705Ser)
c.1939C>T (p.Pro647Ser)
n.2090C>T
c.1936C>T (p.Pro646Ser)
c.2110C>T (p.Pro704Ser)
 gnomAD v4
7g.41967914G>CCA367321777GLI3c.2113C>G (p.Pro705Ala)
c.1939C>G (p.Pro647Ala)
n.2090C>G
c.1936C>G (p.Pro646Ala)
c.2110C>G (p.Pro704Ala)
7g.41967914G>TCA367321778GLI3c.2113C>A (p.Pro705Thr)
c.1939C>A (p.Pro647Thr)
n.2090C>A
c.1936C>A (p.Pro646Thr)
c.2110C>A (p.Pro704Thr)
7g.41967915C>ACA367321779GLI3c.2112G>T (p.Gln704His)
c.1938G>T (p.Gln646His)
n.2089G>T
c.1935G>T (p.Gln645His)
c.2109G>T (p.Gln703His)
7g.41967915C=CA1702661968GLI3c.2112G= (p.Gln704=)
c.1938G= (p.Gln646=)
n.2089G=
c.1935G= (p.Gln645=)
c.2109G= (p.Gln703=)
7g.41967915C>GCA367321780GLI3c.2112G>C (p.Gln704His)
c.1938G>C (p.Gln646His)
n.2089G>C
c.1935G>C (p.Gln645His)
c.2109G>C (p.Gln703His)
7g.41967915C>TCA4230675GLI3c.2112G>A (p.Gln704=)
c.1938G>A (p.Gln646=)
n.2089G>A
c.1935G>A (p.Gln645=)
c.2109G>A (p.Gln703=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41967916T>ACA367321782GLI3c.2111A>T (p.Gln704Leu)
c.1937A>T (p.Gln646Leu)
n.2088A>T
c.1934A>T (p.Gln645Leu)
c.2108A>T (p.Gln703Leu)
7g.41967916T>CCA367321781GLI3c.2111A>G (p.Gln704Arg)
c.1937A>G (p.Gln646Arg)
n.2088A>G
c.1934A>G (p.Gln645Arg)
c.2108A>G (p.Gln703Arg)
7g.41967916T>GCA4230676GLI3c.2111A>C (p.Gln704Pro)
c.1937A>C (p.Gln646Pro)
n.2088A>C
c.1934A>C (p.Gln645Pro)
c.2108A>C (p.Gln703Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41967916T=CA1702661969GLI3c.2111A= (p.Gln704=)
c.1937A= (p.Gln646=)
n.2088A=
c.1934A= (p.Gln645=)
c.2108A= (p.Gln703=)
7g.41967917G>ACA342918GLI3c.2110C>T (p.Gln704Ter)
c.1936C>T (p.Gln646Ter)
n.2087C>T
c.1933C>T (p.Gln645Ter)
c.2107C>T (p.Gln703Ter)
 dbSNP
7g.41967917G>CCA367321783GLI3c.2110C>G (p.Gln704Glu)
c.1936C>G (p.Gln646Glu)
n.2087C>G
c.1933C>G (p.Gln645Glu)
c.2107C>G (p.Gln703Glu)
7g.41967917G=CA1702661970GLI3c.2110C= (p.Gln704=)
c.1936C= (p.Gln646=)
n.2087C=
c.1933C= (p.Gln645=)
c.2107C= (p.Gln703=)
7g.41967917G>TCA367321784GLI3c.2110C>A (p.Gln704Lys)
c.1936C>A (p.Gln646Lys)
n.2087C>A
c.1933C>A (p.Gln645Lys)
c.2107C>A (p.Gln703Lys)
7g.41967918A=CA1702661971GLI3c.2109T= (p.Ser703=)
c.1935T= (p.Ser645=)
n.2086T=
c.1932T= (p.Ser644=)
c.2106T= (p.Ser702=)
7g.41967918A>CCA454525198GLI3c.2109T>G (p.Ser703=)
c.1935T>G (p.Ser645=)
n.2086T>G
c.1932T>G (p.Ser644=)
c.2106T>G (p.Ser702=)
7g.41967918A>GCA454525199GLI3c.2109T>C (p.Ser703=)
c.1935T>C (p.Ser645=)
n.2086T>C
c.1932T>C (p.Ser644=)
c.2106T>C (p.Ser702=)
7g.41967918A>TCA454525200GLI3c.2109T>A (p.Ser703=)
c.1935T>A (p.Ser645=)
n.2086T>A
c.1932T>A (p.Ser644=)
c.2106T>A (p.Ser702=)
 dbSNP gnomAD v2
7g.41967919G>ACA367321785GLI3c.2108C>T (p.Ser703Phe)
c.1934C>T (p.Ser645Phe)
n.2085C>T
c.1931C>T (p.Ser644Phe)
c.2105C>T (p.Ser702Phe)
7g.41967919G>CCA367321786GLI3c.2108C>G (p.Ser703Cys)
c.1934C>G (p.Ser645Cys)
n.2085C>G
c.1931C>G (p.Ser644Cys)
c.2105C>G (p.Ser702Cys)
7g.41967919G>TCA367321787GLI3c.2108C>A (p.Ser703Tyr)
c.1934C>A (p.Ser645Tyr)
n.2085C>A
c.1931C>A (p.Ser644Tyr)
c.2105C>A (p.Ser702Tyr)
7g.41967920A>CCA367321788GLI3c.2107T>G (p.Ser703Ala)
c.1933T>G (p.Ser645Ala)
n.2084T>G
c.1930T>G (p.Ser644Ala)
c.2104T>G (p.Ser702Ala)
7g.41967920A>GCA367321789GLI3c.2107T>C (p.Ser703Pro)
c.1933T>C (p.Ser645Pro)
n.2084T>C
c.1930T>C (p.Ser644Pro)
c.2104T>C (p.Ser702Pro)
7g.41967920A>TCA367321790GLI3c.2107T>A (p.Ser703Thr)
c.1933T>A (p.Ser645Thr)
n.2084T>A
c.1930T>A (p.Ser644Thr)
c.2104T>A (p.Ser702Thr)

Number of alleles fetched