Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
X | g.133753933A>T | CA414706309 | GPC3 | c.*169T>A (n.*169T>A) c.533T>A (p.Ile178Asn) c.581T>A (p.Ile194Asn) c.419T>A (p.Ile140Asn) | |
X | g.133753934T>A | CA414706310 | GPC3 | c.*168A>T (n.*168A>T) c.532A>T (p.Ile178Phe) c.580A>T (p.Ile194Phe) c.418A>T (p.Ile140Phe) | |
X | g.133753934T>C | CA10520820 | GPC3 | c.*168A>G (n.*168A>G) c.532A>G (p.Ile178Val) c.580A>G (p.Ile194Val) c.418A>G (p.Ile140Val) | dbSNP ExAC |
X | g.133753934T>G | CA414706311 | GPC3 | c.*168A>C (n.*168A>C) c.532A>C (p.Ile178Leu) c.580A>C (p.Ile194Leu) c.418A>C (p.Ile140Leu) | |
X | g.133753934T= | CA2459503337 | GPC3 | c.*168A= (n.*168A=) c.532A= (p.Ile178=) c.580A= (p.Ile194=) c.418A= (p.Ile140=) | |
X | g.133753935G>A | CA518852676 | GPC3 | c.*167C>T (n.*167C>T) c.531C>T (p.Asp177=) c.579C>T (p.Asp193=) c.417C>T (p.Asp139=) | |
X | g.133753935G>C | CA414706312 | GPC3 | c.*167C>G (n.*167C>G) c.531C>G (p.Asp177Glu) c.579C>G (p.Asp193Glu) c.417C>G (p.Asp139Glu) | |
X | g.133753935G= | CA2459503338 | GPC3 | c.*167C= (n.*167C=) c.531C= (p.Asp177=) c.579C= (p.Asp193=) c.417C= (p.Asp139=) | |
X | g.133753935G>T | CA414706313 | GPC3 | c.*167C>A (n.*167C>A) c.531C>A (p.Asp177Glu) c.579C>A (p.Asp193Glu) c.417C>A (p.Asp139Glu) | dbSNP |
X | g.133753936T>A | CA414706316 | GPC3 | c.*166A>T (n.*166A>T) c.530A>T (p.Asp177Val) c.578A>T (p.Asp193Val) c.416A>T (p.Asp139Val) | |
X | g.133753936T>C | CA414706314 | GPC3 | c.*166A>G (n.*166A>G) c.530A>G (p.Asp177Gly) c.578A>G (p.Asp193Gly) c.416A>G (p.Asp139Gly) | |
X | g.133753936T>G | CA414706315 | GPC3 | c.*166A>C (n.*166A>C) c.530A>C (p.Asp177Ala) c.578A>C (p.Asp193Ala) c.416A>C (p.Asp139Ala) | |
X | g.133753937C>A | CA414706317 | GPC3 | c.*165G>T (n.*165G>T) c.529G>T (p.Asp177Tyr) c.577G>T (p.Asp193Tyr) c.415G>T (p.Asp139Tyr) | |
X | g.133753937C>G | CA414706318 | GPC3 | c.*165G>C (n.*165G>C) c.529G>C (p.Asp177His) c.577G>C (p.Asp193His) c.415G>C (p.Asp139His) | |
X | g.133753937C>T | CA414706319 | GPC3 | c.*165G>A (n.*165G>A) c.529G>A (p.Asp177Asn) c.577G>A (p.Asp193Asn) c.415G>A (p.Asp139Asn) | |
X | g.133753938C>A | CA414706320 | GPC3 | c.*164G>T (n.*164G>T) c.528G>T (p.Leu176Phe) c.576G>T (p.Leu192Phe) c.414G>T (p.Leu138Phe) | |
X | g.133753938C= | CA2459503339 | GPC3 | c.*164G= (n.*164G=) c.528G= (p.Leu176=) c.576G= (p.Leu192=) c.414G= (p.Leu138=) | |
X | g.133753938C>G | CA414706321 | GPC3 | c.*164G>C (n.*164G>C) c.528G>C (p.Leu176Phe) c.576G>C (p.Leu192Phe) c.414G>C (p.Leu138Phe) | ClinVar dbSNP |
X | g.133753938C>T | CA518852677 | GPC3 | c.*164G>A (n.*164G>A) c.528G>A (p.Leu176=) c.576G>A (p.Leu192=) c.414G>A (p.Leu138=) | |
X | g.133753939A>C | CA414706322 | GPC3 | c.*163T>G (n.*163T>G) c.527T>G (p.Leu176Trp) c.575T>G (p.Leu192Trp) c.413T>G (p.Leu138Trp) | |
X | g.133753939A>G | CA414706323 | GPC3 | c.*163T>C (n.*163T>C) c.527T>C (p.Leu176Ser) c.575T>C (p.Leu192Ser) c.413T>C (p.Leu138Ser) | |
X | g.133753939A>T | CA414706324 | GPC3 | c.*163T>A (n.*163T>A) c.527T>A (p.Leu176Ter) c.575T>A (p.Leu192Ter) c.413T>A (p.Leu138Ter) | |
X | g.133753940A>C | CA414706325 | GPC3 | c.*162T>G (n.*162T>G) c.526T>G (p.Leu176Val) c.574T>G (p.Leu192Val) c.412T>G (p.Leu138Val) | |
X | g.133753940A>G | CA518852678 | GPC3 | c.*162T>C (n.*162T>C) c.526T>C (p.Leu176=) c.574T>C (p.Leu192=) c.412T>C (p.Leu138=) | |
X | g.133753940A>T | CA414706326 | GPC3 | c.*162T>A (n.*162T>A) c.526T>A (p.Leu176Met) c.574T>A (p.Leu192Met) c.412T>A (p.Leu138Met) | |
X | g.133753941G>A | CA518852679 | GPC3 | c.*161C>T (n.*161C>T) c.525C>T (p.Ala175=) c.573C>T (p.Ala191=) c.411C>T (p.Ala137=) | ClinVar dbSNP |
X | g.133753941G>C | CA518852680 | GPC3 | c.*161C>G (n.*161C>G) c.525C>G (p.Ala175=) c.573C>G (p.Ala191=) c.411C>G (p.Ala137=) | |
X | g.133753941G>T | CA518852681 | GPC3 | c.*161C>A (n.*161C>A) c.525C>A (p.Ala175=) c.573C>A (p.Ala191=) c.411C>A (p.Ala137=) | COSMIC COSMIC |