UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.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 |
| 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) |