WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.13283710del | CA2018072149 | PHYH | c.811del (p.Thr271ProfsTer22) c.511del (p.Thr171ProfsTer22) c.760del (p.Thr254ProfsTer22) c.511del (p.Thr171ProfsTer?) c.592del (p.Thr198ProfsTer22) c.817del (p.Thr273ProfsTer22) c.547del (p.Thr183ProfsTer22) c.517del (p.Thr173ProfsTer22) | ClinVar dbSNP |
| 10 | g.13283708T>A | CA376034074 | PHYH | c.810A>T (p.Lys270Asn) c.510A>T (p.Lys170Asn) c.759A>T (p.Lys253Asn) c.591A>T (p.Lys197Asn) c.816A>T (p.Lys272Asn) c.546A>T (p.Lys182Asn) c.516A>T (p.Lys172Asn) | |
| 10 | g.13283708T>C | CA468236815 | PHYH | c.810A>G (p.Lys270=) c.510A>G (p.Lys170=) c.759A>G (p.Lys253=) c.591A>G (p.Lys197=) c.816A>G (p.Lys272=) c.546A>G (p.Lys182=) c.516A>G (p.Lys172=) | |
| 10 | g.13283708T>G | CA376034075 | PHYH | c.810A>C (p.Lys270Asn) c.510A>C (p.Lys170Asn) c.759A>C (p.Lys253Asn) c.591A>C (p.Lys197Asn) c.816A>C (p.Lys272Asn) c.546A>C (p.Lys182Asn) c.516A>C (p.Lys172Asn) | |
| 10 | g.13283709T>A | CA376034078 | PHYH | c.809A>T (p.Lys270Ile) c.509A>T (p.Lys170Ile) c.758A>T (p.Lys253Ile) c.590A>T (p.Lys197Ile) c.815A>T (p.Lys272Ile) c.545A>T (p.Lys182Ile) c.515A>T (p.Lys172Ile) | |
| 10 | g.13283709T>C | CA376034077 | PHYH | c.809A>G (p.Lys270Arg) c.509A>G (p.Lys170Arg) c.758A>G (p.Lys253Arg) c.590A>G (p.Lys197Arg) c.815A>G (p.Lys272Arg) c.545A>G (p.Lys182Arg) c.515A>G (p.Lys172Arg) | |
| 10 | g.13283709T>G | CA376034076 | PHYH | c.809A>C (p.Lys270Thr) c.509A>C (p.Lys170Thr) c.758A>C (p.Lys253Thr) c.590A>C (p.Lys197Thr) c.815A>C (p.Lys272Thr) c.545A>C (p.Lys182Thr) c.515A>C (p.Lys172Thr) | |
| 10 | g.13283710T>A | CA376034079 | PHYH | c.808A>T (p.Lys270Ter) c.508A>T (p.Lys170Ter) c.757A>T (p.Lys253Ter) c.589A>T (p.Lys197Ter) c.814A>T (p.Lys272Ter) c.544A>T (p.Lys182Ter) c.514A>T (p.Lys172Ter) | |
| 10 | g.13283710T>C | CA376034081 | PHYH | c.808A>G (p.Lys270Glu) c.508A>G (p.Lys170Glu) c.757A>G (p.Lys253Glu) c.589A>G (p.Lys197Glu) c.814A>G (p.Lys272Glu) c.544A>G (p.Lys182Glu) c.514A>G (p.Lys172Glu) | |
| 10 | g.13283710T>G | CA376034080 | PHYH | c.808A>C (p.Lys270Gln) c.508A>C (p.Lys170Gln) c.757A>C (p.Lys253Gln) c.589A>C (p.Lys197Gln) c.814A>C (p.Lys272Gln) c.544A>C (p.Lys182Gln) c.514A>C (p.Lys172Gln) | |
| 10 | g.13283711A= | CA1891546415 | PHYH | c.807T= (p.Asn269=) c.507T= (p.Asn169=) c.756T= (p.Asn252=) c.588T= (p.Asn196=) c.813T= (p.Asn271=) c.543T= (p.Asn181=) c.513T= (p.Asn171=) | |
| 10 | g.13283711A>C | CA376034082 | PHYH | c.807T>G (p.Asn269Lys) c.507T>G (p.Asn169Lys) c.756T>G (p.Asn252Lys) c.588T>G (p.Asn196Lys) c.813T>G (p.Asn271Lys) c.543T>G (p.Asn181Lys) c.513T>G (p.Asn171Lys) | |
| 10 | g.13283711A>G | CA468236824 | PHYH | c.807T>C (p.Asn269=) c.507T>C (p.Asn169=) c.756T>C (p.Asn252=) c.588T>C (p.Asn196=) c.813T>C (p.Asn271=) c.543T>C (p.Asn181=) c.513T>C (p.Asn171=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.13283711A>T | CA376034083 | PHYH | c.807T>A (p.Asn269Lys) c.507T>A (p.Asn169Lys) c.756T>A (p.Asn252Lys) c.588T>A (p.Asn196Lys) c.813T>A (p.Asn271Lys) c.543T>A (p.Asn181Lys) c.513T>A (p.Asn171Lys) | |
| 10 | g.13283712T>A | CA376034084 | PHYH | c.806A>T (p.Asn269Ile) c.506A>T (p.Asn169Ile) c.755A>T (p.Asn252Ile) c.587A>T (p.Asn196Ile) c.812A>T (p.Asn271Ile) c.542A>T (p.Asn181Ile) c.512A>T (p.Asn171Ile) | |
| 10 | g.13283712T>C | CA376034085 | PHYH | c.806A>G (p.Asn269Ser) c.506A>G (p.Asn169Ser) c.755A>G (p.Asn252Ser) c.587A>G (p.Asn196Ser) c.812A>G (p.Asn271Ser) c.542A>G (p.Asn181Ser) c.512A>G (p.Asn171Ser) | |
| 10 | g.13283712T>G | CA376034086 | PHYH | c.806A>C (p.Asn269Thr) c.506A>C (p.Asn169Thr) c.755A>C (p.Asn252Thr) c.587A>C (p.Asn196Thr) c.812A>C (p.Asn271Thr) c.542A>C (p.Asn181Thr) c.512A>C (p.Asn171Thr) | |
| 10 | g.13283713T>A | CA376034087 | PHYH | c.805A>T (p.Asn269Tyr) c.505A>T (p.Asn169Tyr) c.754A>T (p.Asn252Tyr) c.586A>T (p.Asn196Tyr) c.811A>T (p.Asn271Tyr) c.541A>T (p.Asn181Tyr) c.511A>T (p.Asn171Tyr) | |
| 10 | g.13283713T>C | CA376034088 | PHYH | c.805A>G (p.Asn269Asp) c.505A>G (p.Asn169Asp) c.754A>G (p.Asn252Asp) c.586A>G (p.Asn196Asp) c.811A>G (p.Asn271Asp) c.541A>G (p.Asn181Asp) c.511A>G (p.Asn171Asp) | |
| 10 | g.13283713T>G | CA118905 | PHYH | c.805A>C (p.Asn269His) c.505A>C (p.Asn169His) c.754A>C (p.Asn252His) c.586A>C (p.Asn196His) c.811A>C (p.Asn271His) c.541A>C (p.Asn181His) c.511A>C (p.Asn171His) | ClinVar dbSNP gnomAD v4 |
| 10 | g.13283713T= | CA1891546420 | PHYH | c.805A= (p.Asn269=) c.505A= (p.Asn169=) c.754A= (p.Asn252=) c.586A= (p.Asn196=) c.811A= (p.Asn271=) c.541A= (p.Asn181=) c.511A= (p.Asn171=) | |
| 10 | g.13283714C>A | CA376034089 | PHYH | c.804G>T (p.Gln268His) c.504G>T (p.Gln168His) c.753G>T (p.Gln251His) c.585G>T (p.Gln195His) c.810G>T (p.Gln270His) c.540G>T (p.Gln180His) c.510G>T (p.Gln170His) | |
| 10 | g.13283714C>G | CA376034090 | PHYH | c.804G>C (p.Gln268His) c.504G>C (p.Gln168His) c.753G>C (p.Gln251His) c.585G>C (p.Gln195His) c.810G>C (p.Gln270His) c.540G>C (p.Gln180His) c.510G>C (p.Gln170His) | |
| 10 | g.13283714C>T | CA468236832 | PHYH | c.804G>A (p.Gln268=) c.504G>A (p.Gln168=) c.753G>A (p.Gln251=) c.585G>A (p.Gln195=) c.810G>A (p.Gln270=) c.540G>A (p.Gln180=) c.510G>A (p.Gln170=) | |
| 10 | g.13283715T>A | CA376034093 | PHYH | c.803A>T (p.Gln268Leu) c.503A>T (p.Gln168Leu) c.752A>T (p.Gln251Leu) c.584A>T (p.Gln195Leu) c.809A>T (p.Gln270Leu) c.539A>T (p.Gln180Leu) c.509A>T (p.Gln170Leu) | |
| 10 | g.13283715T>C | CA376034092 | PHYH | c.803A>G (p.Gln268Arg) c.503A>G (p.Gln168Arg) c.752A>G (p.Gln251Arg) c.584A>G (p.Gln195Arg) c.809A>G (p.Gln270Arg) c.539A>G (p.Gln180Arg) c.509A>G (p.Gln170Arg) | |
| 10 | g.13283715T>G | CA376034091 | PHYH | c.803A>C (p.Gln268Pro) c.503A>C (p.Gln168Pro) c.752A>C (p.Gln251Pro) c.584A>C (p.Gln195Pro) c.809A>C (p.Gln270Pro) c.539A>C (p.Gln180Pro) c.509A>C (p.Gln170Pro) | |
| 10 | g.13283716G>A | CA376034094 | PHYH | c.802C>T (p.Gln268Ter) c.502C>T (p.Gln168Ter) c.751C>T (p.Gln251Ter) c.583C>T (p.Gln195Ter) c.808C>T (p.Gln270Ter) c.538C>T (p.Gln180Ter) c.508C>T (p.Gln170Ter) | ClinVar gnomAD v4 |
| 10 | g.13283716G>C | CA376034095 | PHYH | c.802C>G (p.Gln268Glu) c.502C>G (p.Gln168Glu) c.751C>G (p.Gln251Glu) c.583C>G (p.Gln195Glu) c.808C>G (p.Gln270Glu) c.538C>G (p.Gln180Glu) c.508C>G (p.Gln170Glu) | |
| 10 | g.13283716G>T | CA376034096 | PHYH | c.802C>A (p.Gln268Lys) c.502C>A (p.Gln168Lys) c.751C>A (p.Gln251Lys) c.583C>A (p.Gln195Lys) c.808C>A (p.Gln270Lys) c.538C>A (p.Gln180Lys) c.508C>A (p.Gln170Lys) | |
| 10 | g.13283717A>C | CA468236835 | PHYH | c.801T>G (p.Gly267=) c.501T>G (p.Gly167=) c.750T>G (p.Gly250=) c.582T>G (p.Gly194=) c.807T>G (p.Gly269=) c.537T>G (p.Gly179=) c.507T>G (p.Gly169=) | |
| 10 | g.13283717A>G | CA468236836 | PHYH | c.801T>C (p.Gly267=) c.501T>C (p.Gly167=) c.750T>C (p.Gly250=) c.582T>C (p.Gly194=) c.807T>C (p.Gly269=) c.537T>C (p.Gly179=) c.507T>C (p.Gly169=) | |
| 10 | g.13283717A>T | CA468236837 | PHYH | c.801T>A (p.Gly267=) c.501T>A (p.Gly167=) c.750T>A (p.Gly250=) c.582T>A (p.Gly194=) c.807T>A (p.Gly269=) c.537T>A (p.Gly179=) c.507T>A (p.Gly169=) | |
| 10 | g.13283717_13283718delinsAC | CA1891546425 | PHYH | c.800_801delinsGT (p.Gly267=) c.500_501delinsGT (p.Gly167=) c.749_750delinsGT (p.Gly250=) c.581_582delinsGT (p.Gly194=) c.806_807delinsGT (p.Gly269=) c.536_537delinsGT (p.Gly179=) c.506_507delinsGT (p.Gly169=) | |
| 10 | g.13283718C>A | CA376034097 | PHYH | c.800G>T (p.Gly267Val) c.500G>T (p.Gly167Val) c.749G>T (p.Gly250Val) c.581G>T (p.Gly194Val) c.806G>T (p.Gly269Val) c.536G>T (p.Gly179Val) c.506G>T (p.Gly169Val) | |
| 10 | g.13283718C>G | CA376034098 | PHYH | c.800G>C (p.Gly267Ala) c.500G>C (p.Gly167Ala) c.749G>C (p.Gly250Ala) c.581G>C (p.Gly194Ala) c.806G>C (p.Gly269Ala) c.536G>C (p.Gly179Ala) c.506G>C (p.Gly169Ala) | |
| 10 | g.13283718C>T | CA376034099 | PHYH | c.800G>A (p.Gly267Asp) c.500G>A (p.Gly167Asp) c.749G>A (p.Gly250Asp) c.581G>A (p.Gly194Asp) c.806G>A (p.Gly269Asp) c.536G>A (p.Gly179Asp) c.506G>A (p.Gly169Asp) | |
| 10 | g.13283719del | CA592075150 | PHYH | c.800del (p.Gly267ValfsTer26) c.500del (p.Gly167ValfsTer26) c.749del (p.Gly250ValfsTer26) c.500del (p.Gly167ValfsTer?) c.581del (p.Gly194ValfsTer26) c.806del (p.Gly269ValfsTer26) c.536del (p.Gly179ValfsTer26) c.506del (p.Gly169ValfsTer26) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.13283719C>A | CA376034100 | PHYH | c.799G>T (p.Gly267Cys) c.499G>T (p.Gly167Cys) c.748G>T (p.Gly250Cys) c.580G>T (p.Gly194Cys) c.805G>T (p.Gly269Cys) c.535G>T (p.Gly179Cys) c.505G>T (p.Gly169Cys) | |
| 10 | g.13283719C= | CA1891546429 | PHYH | c.799G= (p.Gly267=) c.499G= (p.Gly167=) c.748G= (p.Gly250=) c.580G= (p.Gly194=) c.805G= (p.Gly269=) c.535G= (p.Gly179=) c.505G= (p.Gly169=) | |
| 10 | g.13283719C>G | CA376034101 | PHYH | c.799G>C (p.Gly267Arg) c.499G>C (p.Gly167Arg) c.748G>C (p.Gly250Arg) c.580G>C (p.Gly194Arg) c.805G>C (p.Gly269Arg) c.535G>C (p.Gly179Arg) c.505G>C (p.Gly169Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.13283719C>T | CA376034102 | PHYH | c.799G>A (p.Gly267Ser) c.499G>A (p.Gly167Ser) c.748G>A (p.Gly250Ser) c.580G>A (p.Gly194Ser) c.805G>A (p.Gly269Ser) c.535G>A (p.Gly179Ser) c.505G>A (p.Gly169Ser) | |
| 10 | g.13283720A>C | CA468236843 | PHYH | c.798T>G (p.Ser266=) c.498T>G (p.Ser166=) c.747T>G (p.Ser249=) c.579T>G (p.Ser193=) c.804T>G (p.Ser268=) c.534T>G (p.Ser178=) c.504T>G (p.Ser168=) | |
| 10 | g.13283720A>G | CA468236846 | PHYH | c.798T>C (p.Ser266=) c.498T>C (p.Ser166=) c.747T>C (p.Ser249=) c.579T>C (p.Ser193=) c.804T>C (p.Ser268=) c.534T>C (p.Ser178=) c.504T>C (p.Ser168=) | |
| 10 | g.13283720A>T | CA468236847 | PHYH | c.798T>A (p.Ser266=) c.498T>A (p.Ser166=) c.747T>A (p.Ser249=) c.579T>A (p.Ser193=) c.804T>A (p.Ser268=) c.534T>A (p.Ser178=) c.504T>A (p.Ser168=) | |
| 10 | g.13283721G>A | CA376034103 | PHYH | c.797C>T (p.Ser266Phe) c.497C>T (p.Ser166Phe) c.746C>T (p.Ser249Phe) c.578C>T (p.Ser193Phe) c.803C>T (p.Ser268Phe) c.533C>T (p.Ser178Phe) c.503C>T (p.Ser168Phe) | |
| 10 | g.13283721G>C | CA376034104 | PHYH | c.797C>G (p.Ser266Cys) c.497C>G (p.Ser166Cys) c.746C>G (p.Ser249Cys) c.578C>G (p.Ser193Cys) c.803C>G (p.Ser268Cys) c.533C>G (p.Ser178Cys) c.503C>G (p.Ser168Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13283721G= | CA1891546433 | PHYH | c.797C= (p.Ser266=) c.497C= (p.Ser166=) c.746C= (p.Ser249=) c.578C= (p.Ser193=) c.803C= (p.Ser268=) c.533C= (p.Ser178=) c.503C= (p.Ser168=) | |
| 10 | g.13283721G>T | CA376034105 | PHYH | c.797C>A (p.Ser266Tyr) c.497C>A (p.Ser166Tyr) c.746C>A (p.Ser249Tyr) c.578C>A (p.Ser193Tyr) c.803C>A (p.Ser268Tyr) c.533C>A (p.Ser178Tyr) c.503C>A (p.Ser168Tyr) | |
| 10 | g.13283722A>C | CA376034107 | PHYH | c.796T>G (p.Ser266Ala) c.496T>G (p.Ser166Ala) c.745T>G (p.Ser249Ala) c.577T>G (p.Ser193Ala) c.802T>G (p.Ser268Ala) c.532T>G (p.Ser178Ala) c.502T>G (p.Ser168Ala) |