Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.133753907_133753926del | CA2695236007 | GPC3 | c.*179_*198del (n.*179_*198del) c.543_562del (p.Cys181Ter) c.591_610del (p.Cys197Ter) c.429_448del (p.Cys143Ter) | |
X | g.133753917_133753919delinsCC | CA2695236008 | GPC3 | c.*183_*185delinsGG (n.*183_*185delinsGG) c.547_549delinsGG (p.Arg183GlyfsTer7) c.595_597delinsGG (p.Arg199GlyfsTer7) c.433_435delinsGG (p.Arg145GlyfsTer7) | |
X | g.133753919G>A | CA255988 | GPC3 | c.*183C>T (n.*183C>T) c.547C>T (p.Arg183Ter) c.595C>T (p.Arg199Ter) c.433C>T (p.Arg145Ter) | ClinVar dbSNP COSMIC COSMIC |
X | g.133753919G>C | CA414706276 | GPC3 | c.*183C>G (n.*183C>G) c.547C>G (p.Arg183Gly) c.595C>G (p.Arg199Gly) c.433C>G (p.Arg145Gly) | |
X | g.133753919G= | CA2459503333 | GPC3 | c.*183C= (n.*183C=) c.547C= (p.Arg183=) c.595C= (p.Arg199=) c.433C= (p.Arg145=) | |
X | g.133753919G>T | CA518852667 | GPC3 | c.*183C>A (n.*183C>A) c.547C>A (p.Arg183=) c.595C>A (p.Arg199=) c.433C>A (p.Arg145=) | |
X | g.133753920G>A | CA518852668 | GPC3 | c.*182C>T (n.*182C>T) c.546C>T (p.Leu182=) c.594C>T (p.Leu198=) c.432C>T (p.Leu144=) | dbSNP gnomAD v4 |
X | g.133753920G>C | CA518852669 | GPC3 | c.*182C>G (n.*182C>G) c.546C>G (p.Leu182=) c.594C>G (p.Leu198=) c.432C>G (p.Leu144=) | |
X | g.133753920G= | CA2459503334 | GPC3 | c.*182C= (n.*182C=) c.546C= (p.Leu182=) c.594C= (p.Leu198=) c.432C= (p.Leu144=) | |
X | g.133753920G>T | CA518852670 | GPC3 | c.*182C>A (n.*182C>A) c.546C>A (p.Leu182=) c.594C>A (p.Leu198=) c.432C>A (p.Leu144=) | |
X | g.133753921A>C | CA414706277 | GPC3 | c.*181T>G (n.*181T>G) c.545T>G (p.Leu182Arg) c.593T>G (p.Leu198Arg) c.431T>G (p.Leu144Arg) | |
X | g.133753921A>G | CA414706278 | GPC3 | c.*181T>C (n.*181T>C) c.545T>C (p.Leu182Pro) c.593T>C (p.Leu198Pro) c.431T>C (p.Leu144Pro) | |
X | g.133753921A>T | CA414706279 | GPC3 | c.*181T>A (n.*181T>A) c.545T>A (p.Leu182His) c.593T>A (p.Leu198His) c.431T>A (p.Leu144His) | |
X | g.133753922G>A | CA414706280 | GPC3 | c.*180C>T (n.*180C>T) c.544C>T (p.Leu182Phe) c.592C>T (p.Leu198Phe) c.430C>T (p.Leu144Phe) | ClinVar dbSNP COSMIC COSMIC |
X | g.133753922G>C | CA414706281 | GPC3 | c.*180C>G (n.*180C>G) c.544C>G (p.Leu182Val) c.592C>G (p.Leu198Val) c.430C>G (p.Leu144Val) | |
X | g.133753922G>T | CA414706282 | GPC3 | c.*180C>A (n.*180C>A) c.544C>A (p.Leu182Ile) c.592C>A (p.Leu198Ile) c.430C>A (p.Leu144Ile) | |
X | g.133753923G>A | CA518852671 | GPC3 | c.*179C>T (n.*179C>T) c.543C>T (p.Cys181=) c.591C>T (p.Cys197=) c.429C>T (p.Cys143=) | |
X | g.133753923G>C | CA414706283 | GPC3 | c.*179C>G (n.*179C>G) c.543C>G (p.Cys181Trp) c.591C>G (p.Cys197Trp) c.429C>G (p.Cys143Trp) | |
X | g.133753923G>T | CA414706284 | GPC3 | c.*179C>A (n.*179C>A) c.543C>A (p.Cys181Ter) c.591C>A (p.Cys197Ter) c.429C>A (p.Cys143Ter) | |
X | g.133753924C>A | CA414706285 | GPC3 | c.*178G>T (n.*178G>T) c.542G>T (p.Cys181Phe) c.590G>T (p.Cys197Phe) c.428G>T (p.Cys143Phe) | |
X | g.133753924C>G | CA414706286 | GPC3 | c.*178G>C (n.*178G>C) c.542G>C (p.Cys181Ser) c.590G>C (p.Cys197Ser) c.428G>C (p.Cys143Ser) | |
X | g.133753924C>T | CA414706287 | GPC3 | c.*178G>A (n.*178G>A) c.542G>A (p.Cys181Tyr) c.590G>A (p.Cys197Tyr) c.428G>A (p.Cys143Tyr) | |
X | g.133753925A>C | CA414706290 | GPC3 | c.*177T>G (n.*177T>G) c.541T>G (p.Cys181Gly) c.589T>G (p.Cys197Gly) c.427T>G (p.Cys143Gly) | |
X | g.133753925A>G | CA414706288 | GPC3 | c.*177T>C (n.*177T>C) c.541T>C (p.Cys181Arg) c.589T>C (p.Cys197Arg) c.427T>C (p.Cys143Arg) | |
X | g.133753925A>T | CA414706289 | GPC3 | c.*177T>A (n.*177T>A) c.541T>A (p.Cys181Ser) c.589T>A (p.Cys197Ser) c.427T>A (p.Cys143Ser) | COSMIC |
X | g.133753926C>A | CA414706291 | GPC3 | c.*176G>T (n.*176G>T) c.540G>T (p.Glu180Asp) c.588G>T (p.Glu196Asp) c.426G>T (p.Glu142Asp) | |
X | g.133753926C>G | CA414706292 | GPC3 | c.*176G>C (n.*176G>C) c.540G>C (p.Glu180Asp) c.588G>C (p.Glu196Asp) c.426G>C (p.Glu142Asp) | |
X | g.133753926C>T | CA518852672 | GPC3 | c.*176G>A (n.*176G>A) c.540G>A (p.Glu180=) c.588G>A (p.Glu196=) c.426G>A (p.Glu142=) | ClinVar dbSNP gnomAD v4 |
X | g.133753927T>A | CA414706293 | GPC3 | c.*175A>T (n.*175A>T) c.539A>T (p.Glu180Val) c.587A>T (p.Glu196Val) c.425A>T (p.Glu142Val) | |
X | g.133753927T>C | CA414706294 | GPC3 | c.*175A>G (n.*175A>G) c.539A>G (p.Glu180Gly) c.587A>G (p.Glu196Gly) c.425A>G (p.Glu142Gly) | COSMIC COSMIC |
X | g.133753927T>G | CA414706295 | GPC3 | c.*175A>C (n.*175A>C) c.539A>C (p.Glu180Ala) c.587A>C (p.Glu196Ala) c.425A>C (p.Glu142Ala) | |
X | g.133753928C>A | CA414706296 | GPC3 | c.*174G>T (n.*174G>T) c.538G>T (p.Glu180Ter) c.586G>T (p.Glu196Ter) c.424G>T (p.Glu142Ter) | |
X | g.133753928C>G | CA414706297 | GPC3 | c.*174G>C (n.*174G>C) c.538G>C (p.Glu180Gln) c.586G>C (p.Glu196Gln) c.424G>C (p.Glu142Gln) | |
X | g.133753928C>T | CA414706298 | GPC3 | c.*174G>A (n.*174G>A) c.538G>A (p.Glu180Lys) c.586G>A (p.Glu196Lys) c.424G>A (p.Glu142Lys) | |
X | g.133753929A>C | CA414706299 | GPC3 | c.*173T>G (n.*173T>G) c.537T>G (p.Asn179Lys) c.585T>G (p.Asn195Lys) c.423T>G (p.Asn141Lys) | |
X | g.133753929A>G | CA518852673 | GPC3 | c.*173T>C (n.*173T>C) c.537T>C (p.Asn179=) c.585T>C (p.Asn195=) c.423T>C (p.Asn141=) | ClinVar dbSNP |
X | g.133753929A>T | CA414706300 | GPC3 | c.*173T>A (n.*173T>A) c.537T>A (p.Asn179Lys) c.585T>A (p.Asn195Lys) c.423T>A (p.Asn141Lys) | |
X | g.133753930T>A | CA414706302 | GPC3 | c.*172A>T (n.*172A>T) c.536A>T (p.Asn179Ile) c.584A>T (p.Asn195Ile) c.422A>T (p.Asn141Ile) | |
X | g.133753930T>C | CA10520819 | GPC3 | c.*172A>G (n.*172A>G) c.536A>G (p.Asn179Ser) c.584A>G (p.Asn195Ser) c.422A>G (p.Asn141Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.133753930T>G | CA414706301 | GPC3 | c.*172A>C (n.*172A>C) c.536A>C (p.Asn179Thr) c.584A>C (p.Asn195Thr) c.422A>C (p.Asn141Thr) | |
X | g.133753930T= | CA2459503335 | GPC3 | c.*172A= (n.*172A=) c.536A= (p.Asn179=) c.584A= (p.Asn195=) c.422A= (p.Asn141=) | |
X | g.133753931T>A | CA414706303 | GPC3 | c.*171A>T (n.*171A>T) c.535A>T (p.Asn179Tyr) c.583A>T (p.Asn195Tyr) c.421A>T (p.Asn141Tyr) | |
X | g.133753931T>C | CA414706304 | GPC3 | c.*171A>G (n.*171A>G) c.535A>G (p.Asn179Asp) c.583A>G (p.Asn195Asp) c.421A>G (p.Asn141Asp) | ClinVar dbSNP |
X | g.133753931T>G | CA414706305 | GPC3 | c.*171A>C (n.*171A>C) c.535A>C (p.Asn179His) c.583A>C (p.Asn195His) c.421A>C (p.Asn141His) | |
X | g.133753931T= | CA2459503336 | GPC3 | c.*171A= (n.*171A=) c.535A= (p.Asn179=) c.583A= (p.Asn195=) c.421A= (p.Asn141=) | |
X | g.133753932G>A | CA518852674 | GPC3 | c.*170C>T (n.*170C>T) c.534C>T (p.Ile178=) c.582C>T (p.Ile194=) c.420C>T (p.Ile140=) | |
X | g.133753932G>C | CA414706306 | GPC3 | c.*170C>G (n.*170C>G) c.534C>G (p.Ile178Met) c.582C>G (p.Ile194Met) c.420C>G (p.Ile140Met) | |
X | g.133753932G>T | CA518852675 | GPC3 | c.*170C>A (n.*170C>A) c.534C>A (p.Ile178=) c.582C>A (p.Ile194=) c.420C>A (p.Ile140=) | |
X | g.133753933A>C | CA414706307 | GPC3 | c.*169T>G (n.*169T>G) c.533T>G (p.Ile178Ser) c.581T>G (p.Ile194Ser) c.419T>G (p.Ile140Ser) | |
X | g.133753933A>G | CA414706308 | GPC3 | c.*169T>C (n.*169T>C) c.533T>C (p.Ile178Thr) c.581T>C (p.Ile194Thr) c.419T>C (p.Ile140Thr) | gnomAD v4 |