| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.41967817C>A | CA367321567 | GLI3 | c.2210G>T (p.Ser737Ile) c.2036G>T (p.Ser679Ile) n.2187G>T c.2033G>T (p.Ser678Ile) c.2207G>T (p.Ser736Ile) | dbSNP |
| 7 | g.41967817C= | CA1702661935 | GLI3 | c.2210G= (p.Ser737=) c.2036G= (p.Ser679=) n.2187G= c.2033G= (p.Ser678=) c.2207G= (p.Ser736=) | |
| 7 | g.41967817C>G | CA367321568 | GLI3 | c.2210G>C (p.Ser737Thr) c.2036G>C (p.Ser679Thr) n.2187G>C c.2033G>C (p.Ser678Thr) c.2207G>C (p.Ser736Thr) | dbSNP |
| 7 | g.41967817C>T | CA156909352 | GLI3 | c.2210G>A (p.Ser737Asn) c.2036G>A (p.Ser679Asn) n.2187G>A c.2033G>A (p.Ser678Asn) c.2207G>A (p.Ser736Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967818T>A | CA367321569 | GLI3 | c.2209A>T (p.Ser737Cys) c.2035A>T (p.Ser679Cys) n.2186A>T c.2032A>T (p.Ser678Cys) c.2206A>T (p.Ser736Cys) | |
| 7 | g.41967818T>C | CA367321570 | GLI3 | c.2209A>G (p.Ser737Gly) c.2035A>G (p.Ser679Gly) n.2186A>G c.2032A>G (p.Ser678Gly) c.2206A>G (p.Ser736Gly) | |
| 7 | g.41967818T>G | CA367321571 | GLI3 | c.2209A>C (p.Ser737Arg) c.2035A>C (p.Ser679Arg) n.2186A>C c.2032A>C (p.Ser678Arg) c.2206A>C (p.Ser736Arg) | |
| 7 | g.41967819A= | CA1702661936 | GLI3 | c.2208T= (p.Gly736=) c.2034T= (p.Gly678=) n.2185T= c.2031T= (p.Gly677=) c.2205T= (p.Gly735=) | |
| 7 | g.41967819A>C | CA454663504 | GLI3 | c.2208T>G (p.Gly736=) c.2034T>G (p.Gly678=) n.2185T>G c.2031T>G (p.Gly677=) c.2205T>G (p.Gly735=) | dbSNP |
| 7 | g.41967819A>G | CA4230662 | GLI3 | c.2208T>C (p.Gly736=) c.2034T>C (p.Gly678=) n.2185T>C c.2031T>C (p.Gly677=) c.2205T>C (p.Gly735=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967819A>T | CA454663505 | GLI3 | c.2208T>A (p.Gly736=) c.2034T>A (p.Gly678=) n.2185T>A c.2031T>A (p.Gly677=) c.2205T>A (p.Gly735=) | dbSNP |
| 7 | g.41967820C>A | CA367321572 | GLI3 | c.2207G>T (p.Gly736Val) c.2033G>T (p.Gly678Val) n.2184G>T c.2030G>T (p.Gly677Val) c.2204G>T (p.Gly735Val) | dbSNP |
| 7 | g.41967820C= | CA1702661938 | GLI3 | c.2207G= (p.Gly736=) c.2033G= (p.Gly678=) n.2184G= c.2030G= (p.Gly677=) c.2204G= (p.Gly735=) | |
| 7 | g.41967820C>G | CA367321573 | GLI3 | c.2207G>C (p.Gly736Ala) c.2033G>C (p.Gly678Ala) n.2184G>C c.2030G>C (p.Gly677Ala) c.2204G>C (p.Gly735Ala) | dbSNP |
| 7 | g.41967820C>T | CA156909371 | GLI3 | c.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 |
| 7 | g.41967821dup | CA2695207644 | GLI3 | c.2207dup (p.Ser737Ter) c.2033dup (p.Ser679Ter) n.2184dup c.2030dup (p.Ser678Ter) c.2204dup (p.Ser736Ter) | |
| 7 | g.41967820_41967839delinsCCTCCATCGGTCAGAGGAAG | CA1702661937 | GLI3 | c.2188_2207delinsCTTCCTCTGACCGATGGAGG (p.Leu730=) c.2014_2033delinsCTTCCTCTGACCGATGGAGG (p.Leu672=) n.2165_2184delinsCTTCCTCTGACCGATGGAGG c.2011_2030delinsCTTCCTCTGACCGATGGAGG (p.Leu671=) c.2185_2204delinsCTTCCTCTGACCGATGGAGG (p.Leu729=) | |
| 7 | g.41967821_41967840del | CA2695207645 | GLI3 | c.2188_2207del (p.Leu730Ter) c.2014_2033del (p.Leu672Ter) n.2165_2184del c.2011_2030del (p.Leu671Ter) c.2185_2204del (p.Leu729Ter) | |
| 7 | g.41967821C>A | CA367321574 | GLI3 | c.2206G>T (p.Gly736Cys) c.2032G>T (p.Gly678Cys) n.2183G>T c.2029G>T (p.Gly677Cys) c.2203G>T (p.Gly735Cys) | dbSNP |
| 7 | g.41967821C>G | CA367321575 | GLI3 | c.2206G>C (p.Gly736Arg) c.2032G>C (p.Gly678Arg) n.2183G>C c.2029G>C (p.Gly677Arg) c.2203G>C (p.Gly735Arg) | |
| 7 | g.41967821C>T | CA367321576 | GLI3 | c.2206G>A (p.Gly736Ser) c.2032G>A (p.Gly678Ser) n.2183G>A c.2029G>A (p.Gly677Ser) c.2203G>A (p.Gly735Ser) | |
| 7 | g.41967824_41967842del | CA341305 | GLI3 | c.2188_2206del (p.Leu730ValfsTer3) c.2014_2032del (p.Leu672ValfsTer3) n.2165_2183del c.2011_2029del (p.Leu671ValfsTer3) c.2185_2203del (p.Leu729ValfsTer3) | ClinVar dbSNP |
| 7 | g.41967822T>A | CA454663512 | GLI3 | c.2205A>T (p.Gly735=) c.2031A>T (p.Gly677=) n.2182A>T c.2028A>T (p.Gly676=) c.2202A>T (p.Gly734=) | |
| 7 | g.41967822T>C | CA454663510 | GLI3 | c.2205A>G (p.Gly735=) c.2031A>G (p.Gly677=) n.2182A>G c.2028A>G (p.Gly676=) c.2202A>G (p.Gly734=) | |
| 7 | g.41967822T>G | CA454663511 | GLI3 | c.2205A>C (p.Gly735=) c.2031A>C (p.Gly677=) n.2182A>C c.2028A>C (p.Gly676=) c.2202A>C (p.Gly734=) | |
| 7 | g.41967823C>A | CA367321577 | GLI3 | c.2204G>T (p.Gly735Val) c.2030G>T (p.Gly677Val) n.2181G>T c.2027G>T (p.Gly676Val) c.2201G>T (p.Gly734Val) | dbSNP |
| 7 | g.41967823C>G | CA367321578 | GLI3 | c.2204G>C (p.Gly735Ala) c.2030G>C (p.Gly677Ala) n.2181G>C c.2027G>C (p.Gly676Ala) c.2201G>C (p.Gly734Ala) | dbSNP |
| 7 | g.41967823C>T | CA367321579 | GLI3 | c.2204G>A (p.Gly735Glu) c.2030G>A (p.Gly677Glu) n.2181G>A c.2027G>A (p.Gly676Glu) c.2201G>A (p.Gly734Glu) | dbSNP |
| 7 | g.41967824C>A | CA367321580 | GLI3 | c.2203G>T (p.Gly735Ter) c.2029G>T (p.Gly677Ter) n.2180G>T c.2026G>T (p.Gly676Ter) c.2200G>T (p.Gly734Ter) | |
| 7 | g.41967824C>G | CA367321581 | GLI3 | c.2203G>C (p.Gly735Arg) c.2029G>C (p.Gly677Arg) n.2180G>C c.2026G>C (p.Gly676Arg) c.2200G>C (p.Gly734Arg) | |
| 7 | g.41967824C>T | CA367321582 | GLI3 | c.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 |
| 7 | g.41967825A>C | CA367321583 | GLI3 | c.2202T>G (p.Asp734Glu) c.2028T>G (p.Asp676Glu) n.2179T>G c.2025T>G (p.Asp675Glu) c.2199T>G (p.Asp733Glu) | dbSNP |
| 7 | g.41967825A>G | CA454663516 | GLI3 | c.2202T>C (p.Asp734=) c.2028T>C (p.Asp676=) n.2179T>C c.2025T>C (p.Asp675=) c.2199T>C (p.Asp733=) | gnomAD v4 |
| 7 | g.41967825A>T | CA367321584 | GLI3 | c.2202T>A (p.Asp734Glu) c.2028T>A (p.Asp676Glu) n.2179T>A c.2025T>A (p.Asp675Glu) c.2199T>A (p.Asp733Glu) | dbSNP |
| 7 | g.41967826T>A | CA367321585 | GLI3 | c.2201A>T (p.Asp734Val) c.2027A>T (p.Asp676Val) n.2178A>T c.2024A>T (p.Asp675Val) c.2198A>T (p.Asp733Val) | |
| 7 | g.41967826T>C | CA367321586 | GLI3 | c.2201A>G (p.Asp734Gly) c.2027A>G (p.Asp676Gly) n.2178A>G c.2024A>G (p.Asp675Gly) c.2198A>G (p.Asp733Gly) | |
| 7 | g.41967826T>G | CA367321587 | GLI3 | c.2201A>C (p.Asp734Ala) c.2027A>C (p.Asp676Ala) n.2178A>C c.2024A>C (p.Asp675Ala) c.2198A>C (p.Asp733Ala) | |
| 7 | g.41967827C>A | CA367321589 | GLI3 | c.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 |
| 7 | g.41967827C= | CA1702661939 | GLI3 | c.2200G= (p.Asp734=) c.2026G= (p.Asp676=) n.2177G= c.2023G= (p.Asp675=) c.2197G= (p.Asp733=) | |
| 7 | g.41967827C>G | CA367321588 | GLI3 | c.2200G>C (p.Asp734His) c.2026G>C (p.Asp676His) n.2177G>C c.2023G>C (p.Asp675His) c.2197G>C (p.Asp733His) | dbSNP |
| 7 | g.41967827C>T | CA4230663 | GLI3 | c.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 |
| 7 | g.41967828G>A | CA4230664 | GLI3 | c.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 |
| 7 | g.41967828G>C | CA454663519 | GLI3 | c.2199C>G (p.Thr733=) c.2025C>G (p.Thr675=) n.2176C>G c.2022C>G (p.Thr674=) c.2196C>G (p.Thr732=) | dbSNP |
| 7 | g.41967828G= | CA1702661941 | GLI3 | c.2199C= (p.Thr733=) c.2025C= (p.Thr675=) n.2176C= c.2022C= (p.Thr674=) c.2196C= (p.Thr732=) | |
| 7 | g.41967828G>T | CA454663520 | GLI3 | c.2199C>A (p.Thr733=) c.2025C>A (p.Thr675=) n.2176C>A c.2022C>A (p.Thr674=) c.2196C>A (p.Thr732=) | |
| 7 | g.41967828_41967830delinsGGT | CA1702661940 | GLI3 | c.2197_2199delinsACC (p.Thr733=) c.2023_2025delinsACC (p.Thr675=) n.2174_2176delinsACC c.2020_2022delinsACC (p.Thr674=) c.2194_2196delinsACC (p.Thr732=) | |
| 7 | g.41967829G>A | CA367321590 | GLI3 | c.2198C>T (p.Thr733Ile) c.2024C>T (p.Thr675Ile) n.2175C>T c.2021C>T (p.Thr674Ile) c.2195C>T (p.Thr732Ile) | dbSNP |
| 7 | g.41967829G>C | CA367321591 | GLI3 | c.2198C>G (p.Thr733Ser) c.2024C>G (p.Thr675Ser) n.2175C>G c.2021C>G (p.Thr674Ser) c.2195C>G (p.Thr732Ser) | dbSNP |
| 7 | g.41967829G>T | CA367321592 | GLI3 | c.2198C>A (p.Thr733Asn) c.2024C>A (p.Thr675Asn) n.2175C>A c.2021C>A (p.Thr674Asn) c.2195C>A (p.Thr732Asn) | |
| 7 | g.41967829_41967830del | CA342927 | GLI3 | c.2197_2198del (p.Thr733ArgfsTer4) c.2023_2024del (p.Thr675ArgfsTer4) n.2174_2175del c.2020_2021del (p.Thr674ArgfsTer4) c.2194_2195del (p.Thr732ArgfsTer4) | dbSNP |