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 |
|---|---|---|---|---|---|
| 5 | g.42694985G>A | CA359695140 | GHR | c.335G>A (p.Cys112Tyr) c.269G>A (p.Cys90Tyr) c.205G>A (p.Val69Ile) c.356G>A (p.Cys119Tyr) c.290G>A (p.Cys97Tyr) | dbSNP |
| 5 | g.42694985G>C | CA119817 | GHR | c.335G>C (p.Cys112Ser) c.269G>C (p.Cys90Ser) c.205G>C (p.Val69Leu) c.356G>C (p.Cys119Ser) c.290G>C (p.Cys97Ser) | ClinVar dbSNP |
| 5 | g.42694985G= | CA1542287828 | GHR | c.335G= (p.Cys112=) c.269G= (p.Cys90=) c.205G= (p.Val69=) c.356G= (p.Cys119=) c.290G= (p.Cys97=) | |
| 5 | g.42694985G>T | CA359695141 | GHR | c.335G>T (p.Cys112Phe) c.269G>T (p.Cys90Phe) c.205G>T (p.Val69Phe) c.356G>T (p.Cys119Phe) c.290G>T (p.Cys97Phe) | ClinVar |
| 5 | g.42694986T>A | CA359695142 | GHR | c.336T>A (p.Cys112Ter) c.270T>A (p.Cys90Ter) c.206T>A (p.Val69Asp) c.357T>A (p.Cys119Ter) c.291T>A (p.Cys97Ter) | |
| 5 | g.42694986T>C | CA443840707 | GHR | c.336T>C (p.Cys112=) c.270T>C (p.Cys90=) c.206T>C (p.Val69Ala) c.357T>C (p.Cys119=) c.291T>C (p.Cys97=) | |
| 5 | g.42694986T>G | CA359695143 | GHR | c.336T>G (p.Cys112Trp) c.270T>G (p.Cys90Trp) c.206T>G (p.Val69Gly) c.357T>G (p.Cys119Trp) c.291T>G (p.Cys97Trp) | |
| 5 | g.42694987del | CA2697547150 | GHR | c.337del (p.Tyr113ThrfsTer17) c.271del (p.Tyr91ThrfsTer17) c.207del (p.Thr70LeufsTer2) c.358del (p.Tyr120ThrfsTer17) c.292del (p.Tyr98ThrfsTer17) | ClinVar |
| 5 | g.42694987T>A | CA359695144 | GHR | c.337T>A (p.Tyr113Asn) c.271T>A (p.Tyr91Asn) c.207T>A (p.Val69=) c.358T>A (p.Tyr120Asn) c.292T>A (p.Tyr98Asn) | |
| 5 | g.42694987T>C | CA359695145 | GHR | c.337T>C (p.Tyr113His) c.271T>C (p.Tyr91His) c.207T>C (p.Val69=) c.358T>C (p.Tyr120His) c.292T>C (p.Tyr98His) | |
| 5 | g.42694987T>G | CA359695146 | GHR | c.337T>G (p.Tyr113Asp) c.271T>G (p.Tyr91Asp) c.207T>G (p.Val69=) c.358T>G (p.Tyr120Asp) c.292T>G (p.Tyr98Asp) | |
| 5 | g.42694988A>C | CA359695147 | GHR | c.338A>C (p.Tyr113Ser) c.272A>C (p.Tyr91Ser) c.208A>C (p.Thr70Pro) c.359A>C (p.Tyr120Ser) c.293A>C (p.Tyr98Ser) | ClinVar dbSNP |
| 5 | g.42694988A>G | CA359695148 | GHR | c.338A>G (p.Tyr113Cys) c.272A>G (p.Tyr91Cys) c.208A>G (p.Thr70Ala) c.359A>G (p.Tyr120Cys) c.293A>G (p.Tyr98Cys) | |
| 5 | g.42694988A>T | CA359695149 | GHR | c.338A>T (p.Tyr113Phe) c.272A>T (p.Tyr91Phe) c.208A>T (p.Thr70Ser) c.359A>T (p.Tyr120Phe) c.293A>T (p.Tyr98Phe) | gnomAD v4 |
| 5 | g.42694988dup | CA2573052512 | GHR | c.338dup (p.Tyr113Ter) c.272dup (p.Tyr91Ter) c.208dup (p.Thr70AsnfsTer?) c.359dup (p.Tyr120Ter) c.293dup (p.Tyr98Ter) | dbSNP gnomAD v4 |
| 5 | g.42694989C>A | CA359695150 | GHR | c.339C>A (p.Tyr113Ter) c.273C>A (p.Tyr91Ter) c.209C>A (p.Thr70Asn) c.360C>A (p.Tyr120Ter) c.294C>A (p.Tyr98Ter) | |
| 5 | g.42694989C>G | CA359695151 | GHR | c.339C>G (p.Tyr113Ter) c.273C>G (p.Tyr91Ter) c.209C>G (p.Thr70Ser) c.360C>G (p.Tyr120Ter) c.294C>G (p.Tyr98Ter) | |
| 5 | g.42694989C>T | CA443840726 | GHR | c.339C>T (p.Tyr113=) c.273C>T (p.Tyr91=) c.209C>T (p.Thr70Ile) c.360C>T (p.Tyr120=) c.294C>T (p.Tyr98=) | |
| 5 | g.42694990T>A | CA359695153 | GHR | c.340T>A (p.Phe114Ile) c.274T>A (p.Phe92Ile) c.210T>A (p.Thr70=) c.361T>A (p.Phe121Ile) c.295T>A (p.Phe99Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.42694990T>C | CA359695154 | GHR | c.340T>C (p.Phe114Leu) c.274T>C (p.Phe92Leu) c.210T>C (p.Thr70=) c.361T>C (p.Phe121Leu) c.295T>C (p.Phe99Leu) | |
| 5 | g.42694990T>G | CA359695152 | GHR | c.340T>G (p.Phe114Val) c.274T>G (p.Phe92Val) c.210T>G (p.Thr70=) c.361T>G (p.Phe121Val) c.295T>G (p.Phe99Val) | |
| 5 | g.42694990T= | CA1542287850 | GHR | c.340T= (p.Phe114=) c.274T= (p.Phe92=) c.210T= (p.Thr70=) c.361T= (p.Phe121=) c.295T= (p.Phe99=) | |
| 5 | g.42694991T>A | CA359695155 | GHR | c.341T>A (p.Phe114Tyr) c.275T>A (p.Phe92Tyr) c.211T>A (p.Leu71Ile) c.362T>A (p.Phe121Tyr) c.296T>A (p.Phe99Tyr) | |
| 5 | g.42694991T>C | CA119790 | GHR | c.341T>C (p.Phe114Ser) c.275T>C (p.Phe92Ser) c.211T>C (p.Leu71=) c.362T>C (p.Phe121Ser) c.296T>C (p.Phe99Ser) | ClinVar dbSNP |
| 5 | g.42694991T>G | CA359695156 | GHR | c.341T>G (p.Phe114Cys) c.275T>G (p.Phe92Cys) c.211T>G (p.Leu71Val) c.362T>G (p.Phe121Cys) c.296T>G (p.Phe99Cys) | gnomAD v4 |
| 5 | g.42694991T= | CA1542287856 | GHR | c.341T= (p.Phe114=) c.275T= (p.Phe92=) c.211T= (p.Leu71=) c.362T= (p.Phe121=) c.296T= (p.Phe99=) | |
| 5 | g.42694992T>A | CA359695157 | GHR | c.342T>A (p.Phe114Leu) c.276T>A (p.Phe92Leu) c.212T>A (p.Leu71Ter) c.363T>A (p.Phe121Leu) c.297T>A (p.Phe99Leu) | |
| 5 | g.42694992T>C | CA443840745 | GHR | c.342T>C (p.Phe114=) c.276T>C (p.Phe92=) c.212T>C (p.Leu71Ser) c.363T>C (p.Phe121=) c.297T>C (p.Phe99=) | |
| 5 | g.42694992T>G | CA359695158 | GHR | c.342T>G (p.Phe114Leu) c.276T>G (p.Phe92Leu) c.212T>G (p.Leu71Ter) c.363T>G (p.Phe121Leu) c.297T>G (p.Phe99Leu) | |
| 5 | g.42694993A>C | CA359695159 | GHR | c.343A>C (p.Asn115His) c.277A>C (p.Asn93His) c.213A>C (p.Leu71Phe) c.364A>C (p.Asn122His) c.298A>C (p.Asn100His) | |
| 5 | g.42694993A>G | CA359695160 | GHR | c.343A>G (p.Asn115Asp) c.277A>G (p.Asn93Asp) c.213A>G (p.Leu71=) c.364A>G (p.Asn122Asp) c.298A>G (p.Asn100Asp) | |
| 5 | g.42694993A>T | CA359695161 | GHR | c.343A>T (p.Asn115Tyr) c.277A>T (p.Asn93Tyr) c.213A>T (p.Leu71Phe) c.364A>T (p.Asn122Tyr) c.298A>T (p.Asn100Tyr) | |
| 5 | g.42694994A= | CA1542287875 | GHR | c.344A= (p.Asn115=) c.278A= (p.Asn93=) c.214A= (p.Ile72=) c.365A= (p.Asn122=) c.299A= (p.Asn100=) | |
| 5 | g.42694994A>C | CA359695162 | GHR | c.344A>C (p.Asn115Thr) c.278A>C (p.Asn93Thr) c.214A>C (p.Ile72Leu) c.365A>C (p.Asn122Thr) c.299A>C (p.Asn100Thr) | ClinVar dbSNP |
| 5 | g.42694994A>G | CA359695163 | GHR | c.344A>G (p.Asn115Ser) c.278A>G (p.Asn93Ser) c.214A>G (p.Ile72Val) c.365A>G (p.Asn122Ser) c.299A>G (p.Asn100Ser) | |
| 5 | g.42694994A>T | CA359695164 | GHR | c.344A>T (p.Asn115Ile) c.278A>T (p.Asn93Ile) c.214A>T (p.Ile72Phe) c.365A>T (p.Asn122Ile) c.299A>T (p.Asn100Ile) | |
| 5 | g.42694995T>A | CA359695165 | GHR | c.345T>A (p.Asn115Lys) c.279T>A (p.Asn93Lys) c.215T>A (p.Ile72Asn) c.366T>A (p.Asn122Lys) c.300T>A (p.Asn100Lys) | |
| 5 | g.42694995T>C | CA443840762 | GHR | c.345T>C (p.Asn115=) c.279T>C (p.Asn93=) c.215T>C (p.Ile72Thr) c.366T>C (p.Asn122=) c.300T>C (p.Asn100=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.42694995T>G | CA359695166 | GHR | c.345T>G (p.Asn115Lys) c.279T>G (p.Asn93Lys) c.215T>G (p.Ile72Ser) c.366T>G (p.Asn122Lys) c.300T>G (p.Asn100Lys) | |
| 5 | g.42694995T= | CA1542287878 | GHR | c.345T= (p.Asn115=) c.279T= (p.Asn93=) c.215T= (p.Ile72=) c.366T= (p.Asn122=) c.300T= (p.Asn100=) | |
| 5 | g.42694996T>A | CA359695169 | GHR | c.346T>A (p.Ser116Thr) c.280T>A (p.Ser94Thr) c.216T>A (p.Ile72=) c.367T>A (p.Ser123Thr) c.301T>A (p.Ser101Thr) | |
| 5 | g.42694996T>C | CA359695168 | GHR | c.346T>C (p.Ser116Pro) c.280T>C (p.Ser94Pro) c.216T>C (p.Ile72=) c.367T>C (p.Ser123Pro) c.301T>C (p.Ser101Pro) | |
| 5 | g.42694996T>G | CA359695167 | GHR | c.346T>G (p.Ser116Ala) c.280T>G (p.Ser94Ala) c.216T>G (p.Ile72Met) c.367T>G (p.Ser123Ala) c.301T>G (p.Ser101Ala) | |
| 5 | g.42694997C>A | CA359695170 | GHR | c.347C>A (p.Ser116Ter) c.281C>A (p.Ser94Ter) c.217C>A (p.His73Asn) c.368C>A (p.Ser123Ter) c.302C>A (p.Ser101Ter) | |
| 5 | g.42694997C>G | CA359695171 | GHR | c.347C>G (p.Ser116Ter) c.281C>G (p.Ser94Ter) c.217C>G (p.His73Asp) c.368C>G (p.Ser123Ter) c.302C>G (p.Ser101Ter) | |
| 5 | g.42694997C>T | CA359695172 | GHR | c.347C>T (p.Ser116Leu) c.281C>T (p.Ser94Leu) c.217C>T (p.His73Tyr) c.368C>T (p.Ser123Leu) c.302C>T (p.Ser101Leu) | |
| 5 | g.42694998del | CA2673723657 | GHR | c.348del (p.Ser117ArgfsTer13) c.282del (p.Ser95ArgfsTer13) c.218del (p.His73LeufsTer15) c.369del (p.Ser124ArgfsTer13) c.303del (p.Ser102ArgfsTer13) | gnomAD v4 |
| 5 | g.42694998A>C | CA443840778 | GHR | c.348A>C (p.Ser116=) c.282A>C (p.Ser94=) c.218A>C (p.His73Pro) c.369A>C (p.Ser123=) c.303A>C (p.Ser101=) | |
| 5 | g.42694998A>G | CA443840780 | GHR | c.348A>G (p.Ser116=) c.282A>G (p.Ser94=) c.218A>G (p.His73Arg) c.369A>G (p.Ser123=) c.303A>G (p.Ser101=) | |
| 5 | g.42694998A>T | CA443840782 | GHR | c.348A>T (p.Ser116=) c.282A>T (p.Ser94=) c.218A>T (p.His73Leu) c.369A>T (p.Ser123=) c.303A>T (p.Ser101=) |