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 |
|---|---|---|---|---|---|
| 3 | g.189867903G>A | CA118339 | TP63 | c.953G>A (p.Arg318His) c.671G>A (p.Arg224His) c.416G>A (p.Arg139His) n.777G>A c.902G>A (p.Arg301His) c.950G>A (p.Arg317His) c.947G>A (p.Arg316His) c.914G>A (p.Arg305His) | ClinVar dbSNP |
| 3 | g.189867903G>C | CA355754997 | TP63 | c.953G>C (p.Arg318Pro) c.671G>C (p.Arg224Pro) c.416G>C (p.Arg139Pro) n.777G>C c.902G>C (p.Arg301Pro) c.950G>C (p.Arg317Pro) c.947G>C (p.Arg316Pro) c.914G>C (p.Arg305Pro) | |
| 3 | g.189867903G= | CA1428494648 | TP63 | c.953G= (p.Arg318=) c.671G= (p.Arg224=) c.416G= (p.Arg139=) n.777G= c.902G= (p.Arg301=) c.950G= (p.Arg317=) c.947G= (p.Arg316=) c.914G= (p.Arg305=) | |
| 3 | g.189867903G>T | CA355754998 | TP63 | c.953G>T (p.Arg318Leu) c.671G>T (p.Arg224Leu) c.416G>T (p.Arg139Leu) n.777G>T c.902G>T (p.Arg301Leu) c.950G>T (p.Arg317Leu) c.947G>T (p.Arg316Leu) c.914G>T (p.Arg305Leu) | |
| 3 | g.189867903_189867904delinsAA | CA2586965936 | TP63 | c.953_954delinsAA (p.Arg318Gln) c.671_672delinsAA (p.Arg224Gln) c.416_417delinsAA (p.Arg139Gln) n.777_778delinsAA c.902_903delinsAA (p.Arg301Gln) c.950_951delinsAA (p.Arg317Gln) c.947_948delinsAA (p.Arg316Gln) c.914_915delinsAA (p.Arg305Gln) | |
| 3 | g.189867904C>A | CA2752299 | TP63 | c.954C>A (p.Arg318=) c.672C>A (p.Arg224=) c.417C>A (p.Arg139=) n.778C>A c.903C>A (p.Arg301=) c.951C>A (p.Arg317=) c.948C>A (p.Arg316=) c.915C>A (p.Arg305=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189867904C= | CA1428494658 | TP63 | c.954C= (p.Arg318=) c.672C= (p.Arg224=) c.417C= (p.Arg139=) n.778C= c.903C= (p.Arg301=) c.951C= (p.Arg317=) c.948C= (p.Arg316=) c.915C= (p.Arg305=) | |
| 3 | g.189867904C>G | CA437413208 | TP63 | c.954C>G (p.Arg318=) c.672C>G (p.Arg224=) c.417C>G (p.Arg139=) n.778C>G c.903C>G (p.Arg301=) c.951C>G (p.Arg317=) c.948C>G (p.Arg316=) c.915C>G (p.Arg305=) | |
| 3 | g.189867904C>T | CA437413209 | TP63 | c.954C>T (p.Arg318=) c.672C>T (p.Arg224=) c.417C>T (p.Arg139=) n.778C>T c.903C>T (p.Arg301=) c.951C>T (p.Arg317=) c.948C>T (p.Arg316=) c.915C>T (p.Arg305=) | |
| 3 | g.189867905C>A | CA355754999 | TP63 | c.955C>A (p.Arg319Ser) c.673C>A (p.Arg225Ser) c.418C>A (p.Arg140Ser) n.779C>A c.904C>A (p.Arg302Ser) c.952C>A (p.Arg318Ser) c.949C>A (p.Arg317Ser) c.916C>A (p.Arg306Ser) | COSMIC COSMIC COSMIC |
| 3 | g.189867905C= | CA1428494671 | TP63 | c.955C= (p.Arg319=) c.673C= (p.Arg225=) c.418C= (p.Arg140=) n.779C= c.904C= (p.Arg302=) c.952C= (p.Arg318=) c.949C= (p.Arg317=) c.916C= (p.Arg306=) | |
| 3 | g.189867905C>G | CA355755000 | TP63 | c.955C>G (p.Arg319Gly) c.673C>G (p.Arg225Gly) c.418C>G (p.Arg140Gly) n.779C>G c.904C>G (p.Arg302Gly) c.952C>G (p.Arg318Gly) c.949C>G (p.Arg317Gly) c.916C>G (p.Arg306Gly) | |
| 3 | g.189867905C>T | CA118338 | TP63 | c.955C>T (p.Arg319Cys) c.673C>T (p.Arg225Cys) c.418C>T (p.Arg140Cys) n.779C>T c.904C>T (p.Arg302Cys) c.952C>T (p.Arg318Cys) c.949C>T (p.Arg317Cys) c.916C>T (p.Arg306Cys) | ClinVar dbSNP |
| 3 | g.189867906G>A | CA10588353 | TP63 | c.956G>A (p.Arg319His) c.674G>A (p.Arg225His) c.419G>A (p.Arg140His) n.780G>A c.905G>A (p.Arg302His) c.953G>A (p.Arg318His) c.950G>A (p.Arg317His) c.917G>A (p.Arg306His) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.189867906G>C | CA355755001 | TP63 | c.956G>C (p.Arg319Pro) c.674G>C (p.Arg225Pro) c.419G>C (p.Arg140Pro) n.780G>C c.905G>C (p.Arg302Pro) c.953G>C (p.Arg318Pro) c.950G>C (p.Arg317Pro) c.917G>C (p.Arg306Pro) | ClinVar |
| 3 | g.189867906G= | CA1428494678 | TP63 | c.956G= (p.Arg319=) c.674G= (p.Arg225=) c.419G= (p.Arg140=) n.780G= c.905G= (p.Arg302=) c.953G= (p.Arg318=) c.950G= (p.Arg317=) c.917G= (p.Arg306=) | |
| 3 | g.189867906G>T | CA355755002 | TP63 | c.956G>T (p.Arg319Leu) c.674G>T (p.Arg225Leu) c.419G>T (p.Arg140Leu) n.780G>T c.905G>T (p.Arg302Leu) c.953G>T (p.Arg318Leu) c.950G>T (p.Arg317Leu) c.917G>T (p.Arg306Leu) | |
| 3 | g.189867907T>A | CA437413211 | TP63 | c.957T>A (p.Arg319=) c.675T>A (p.Arg225=) c.420T>A (p.Arg140=) n.781T>A c.906T>A (p.Arg302=) c.954T>A (p.Arg318=) c.951T>A (p.Arg317=) c.918T>A (p.Arg306=) | |
| 3 | g.189867907T>C | CA2752300 | TP63 | c.957T>C (p.Arg319=) c.675T>C (p.Arg225=) c.420T>C (p.Arg140=) n.781T>C c.906T>C (p.Arg302=) c.954T>C (p.Arg318=) c.951T>C (p.Arg317=) c.918T>C (p.Arg306=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189867907T>G | CA437413210 | TP63 | c.957T>G (p.Arg319=) c.675T>G (p.Arg225=) c.420T>G (p.Arg140=) n.781T>G c.906T>G (p.Arg302=) c.954T>G (p.Arg318=) c.951T>G (p.Arg317=) c.918T>G (p.Arg306=) | |
| 3 | g.189867907T= | CA1428494687 | TP63 | c.957T= (p.Arg319=) c.675T= (p.Arg225=) c.420T= (p.Arg140=) n.781T= c.906T= (p.Arg302=) c.954T= (p.Arg318=) c.951T= (p.Arg317=) c.918T= (p.Arg306=) | |
| 3 | g.189867908C>A | CA355755003 | TP63 | c.958C>A (p.Pro320Thr) c.676C>A (p.Pro226Thr) c.421C>A (p.Pro141Thr) n.782C>A c.907C>A (p.Pro303Thr) c.955C>A (p.Pro319Thr) c.952C>A (p.Pro318Thr) c.919C>A (p.Pro307Thr) | |
| 3 | g.189867908C>G | CA355755005 | TP63 | c.958C>G (p.Pro320Ala) c.676C>G (p.Pro226Ala) c.421C>G (p.Pro141Ala) n.782C>G c.907C>G (p.Pro303Ala) c.955C>G (p.Pro319Ala) c.952C>G (p.Pro318Ala) c.919C>G (p.Pro307Ala) | gnomAD v4 |
| 3 | g.189867908C>T | CA355755004 | TP63 | c.958C>T (p.Pro320Ser) c.676C>T (p.Pro226Ser) c.421C>T (p.Pro141Ser) n.782C>T c.907C>T (p.Pro303Ser) c.955C>T (p.Pro319Ser) c.952C>T (p.Pro318Ser) c.919C>T (p.Pro307Ser) | |
| 3 | g.189867909C>A | CA355755006 | TP63 | c.959C>A (p.Pro320Gln) c.677C>A (p.Pro226Gln) c.422C>A (p.Pro141Gln) n.783C>A c.908C>A (p.Pro303Gln) c.956C>A (p.Pro319Gln) c.953C>A (p.Pro318Gln) c.920C>A (p.Pro307Gln) | |
| 3 | g.189867909C>G | CA355755008 | TP63 | c.959C>G (p.Pro320Arg) c.677C>G (p.Pro226Arg) c.422C>G (p.Pro141Arg) n.783C>G c.908C>G (p.Pro303Arg) c.956C>G (p.Pro319Arg) c.953C>G (p.Pro318Arg) c.920C>G (p.Pro307Arg) | |
| 3 | g.189867909C>T | CA355755007 | TP63 | c.959C>T (p.Pro320Leu) c.677C>T (p.Pro226Leu) c.422C>T (p.Pro141Leu) n.783C>T c.908C>T (p.Pro303Leu) c.956C>T (p.Pro319Leu) c.953C>T (p.Pro318Leu) c.920C>T (p.Pro307Leu) | |
| 3 | g.189867910A= | CA1428494693 | TP63 | c.960A= (p.Pro320=) c.678A= (p.Pro226=) c.423A= (p.Pro141=) n.784A= c.909A= (p.Pro303=) c.957A= (p.Pro319=) c.954A= (p.Pro318=) c.921A= (p.Pro307=) | |
| 3 | g.189867910A>C | CA437413212 | TP63 | c.960A>C (p.Pro320=) c.678A>C (p.Pro226=) c.423A>C (p.Pro141=) n.784A>C c.909A>C (p.Pro303=) c.957A>C (p.Pro319=) c.954A>C (p.Pro318=) c.921A>C (p.Pro307=) | |
| 3 | g.189867910A>G | CA437413213 | TP63 | c.960A>G (p.Pro320=) c.678A>G (p.Pro226=) c.423A>G (p.Pro141=) n.784A>G c.909A>G (p.Pro303=) c.957A>G (p.Pro319=) c.954A>G (p.Pro318=) c.921A>G (p.Pro307=) | dbSNP |
| 3 | g.189867910A>T | CA437413214 | TP63 | c.960A>T (p.Pro320=) c.678A>T (p.Pro226=) c.423A>T (p.Pro141=) n.784A>T c.909A>T (p.Pro303=) c.957A>T (p.Pro319=) c.954A>T (p.Pro318=) c.921A>T (p.Pro307=) | |
| 3 | g.189867911A= | CA1428494701 | TP63 | c.961A= (p.Ile321=) c.679A= (p.Ile227=) c.424A= (p.Ile142=) n.785A= c.910A= (p.Ile304=) c.958A= (p.Ile320=) c.955A= (p.Ile319=) c.922A= (p.Ile308=) | |
| 3 | g.189867911A>C | CA355755009 | TP63 | c.961A>C (p.Ile321Leu) c.679A>C (p.Ile227Leu) c.424A>C (p.Ile142Leu) n.785A>C c.910A>C (p.Ile304Leu) c.958A>C (p.Ile320Leu) c.955A>C (p.Ile319Leu) c.922A>C (p.Ile308Leu) | |
| 3 | g.189867911A>G | CA89745843 | TP63 | c.961A>G (p.Ile321Val) c.679A>G (p.Ile227Val) c.424A>G (p.Ile142Val) n.785A>G c.910A>G (p.Ile304Val) c.958A>G (p.Ile320Val) c.955A>G (p.Ile319Val) c.922A>G (p.Ile308Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.189867911A>T | CA355755010 | TP63 | c.961A>T (p.Ile321Phe) c.679A>T (p.Ile227Phe) c.424A>T (p.Ile142Phe) n.785A>T c.910A>T (p.Ile304Phe) c.958A>T (p.Ile320Phe) c.955A>T (p.Ile319Phe) c.922A>T (p.Ile308Phe) | |
| 3 | g.189867912T>A | CA355755011 | TP63 | c.962T>A (p.Ile321Asn) c.680T>A (p.Ile227Asn) c.425T>A (p.Ile142Asn) n.786T>A c.911T>A (p.Ile304Asn) c.959T>A (p.Ile320Asn) c.956T>A (p.Ile319Asn) c.923T>A (p.Ile308Asn) | |
| 3 | g.189867912T>C | CA355755012 | TP63 | c.962T>C (p.Ile321Thr) c.680T>C (p.Ile227Thr) c.425T>C (p.Ile142Thr) n.786T>C c.911T>C (p.Ile304Thr) c.959T>C (p.Ile320Thr) c.956T>C (p.Ile319Thr) c.923T>C (p.Ile308Thr) | |
| 3 | g.189867912T>G | CA355755013 | TP63 | c.962T>G (p.Ile321Ser) c.680T>G (p.Ile227Ser) c.425T>G (p.Ile142Ser) n.786T>G c.911T>G (p.Ile304Ser) c.959T>G (p.Ile320Ser) c.956T>G (p.Ile319Ser) c.923T>G (p.Ile308Ser) | |
| 3 | g.189867913T>A | CA437413215 | TP63 | c.963T>A (p.Ile321=) c.681T>A (p.Ile227=) c.426T>A (p.Ile142=) n.787T>A c.912T>A (p.Ile304=) c.960T>A (p.Ile320=) c.957T>A (p.Ile319=) c.924T>A (p.Ile308=) | |
| 3 | g.189867913T>C | CA437413216 | TP63 | c.963T>C (p.Ile321=) c.681T>C (p.Ile227=) c.426T>C (p.Ile142=) n.787T>C c.912T>C (p.Ile304=) c.960T>C (p.Ile320=) c.957T>C (p.Ile319=) c.924T>C (p.Ile308=) | |
| 3 | g.189867913T>G | CA355755014 | TP63 | c.963T>G (p.Ile321Met) c.681T>G (p.Ile227Met) c.426T>G (p.Ile142Met) n.787T>G c.912T>G (p.Ile304Met) c.960T>G (p.Ile320Met) c.957T>G (p.Ile319Met) c.924T>G (p.Ile308Met) | |
| 3 | g.189867914T>A | CA355755015 | TP63 | c.964T>A (p.Leu322Ile) c.682T>A (p.Leu228Ile) c.427T>A (p.Leu143Ile) n.788T>A c.913T>A (p.Leu305Ile) c.961T>A (p.Leu321Ile) c.958T>A (p.Leu320Ile) c.925T>A (p.Leu309Ile) | |
| 3 | g.189867914T>C | CA437413217 | TP63 | c.964T>C (p.Leu322=) c.682T>C (p.Leu228=) c.427T>C (p.Leu143=) n.788T>C c.913T>C (p.Leu305=) c.961T>C (p.Leu321=) c.958T>C (p.Leu320=) c.925T>C (p.Leu309=) | gnomAD v3 gnomAD v4 |
| 3 | g.189867914T>G | CA355755016 | TP63 | c.964T>G (p.Leu322Val) c.682T>G (p.Leu228Val) c.427T>G (p.Leu143Val) n.788T>G c.913T>G (p.Leu305Val) c.961T>G (p.Leu321Val) c.958T>G (p.Leu320Val) c.925T>G (p.Leu309Val) | |
| 3 | g.189867915T>A | CA355755019 | TP63 | c.965T>A (p.Leu322Ter) c.683T>A (p.Leu228Ter) c.428T>A (p.Leu143Ter) n.789T>A c.914T>A (p.Leu305Ter) c.962T>A (p.Leu321Ter) c.959T>A (p.Leu320Ter) c.926T>A (p.Leu309Ter) | |
| 3 | g.189867915T>C | CA355755017 | TP63 | c.965T>C (p.Leu322Ser) c.683T>C (p.Leu228Ser) c.428T>C (p.Leu143Ser) n.789T>C c.914T>C (p.Leu305Ser) c.962T>C (p.Leu321Ser) c.959T>C (p.Leu320Ser) c.926T>C (p.Leu309Ser) | gnomAD v4 |
| 3 | g.189867915T>G | CA355755018 | TP63 | c.965T>G (p.Leu322Ter) c.683T>G (p.Leu228Ter) c.428T>G (p.Leu143Ter) n.789T>G c.914T>G (p.Leu305Ter) c.962T>G (p.Leu321Ter) c.959T>G (p.Leu320Ter) c.926T>G (p.Leu309Ter) | |
| 3 | g.189867916A>C | CA355755020 | TP63 | c.966A>C (p.Leu322Phe) c.684A>C (p.Leu228Phe) c.429A>C (p.Leu143Phe) n.790A>C c.915A>C (p.Leu305Phe) c.963A>C (p.Leu321Phe) c.960A>C (p.Leu320Phe) c.927A>C (p.Leu309Phe) | gnomAD v4 |
| 3 | g.189867916A>G | CA437413218 | TP63 | c.966A>G (p.Leu322=) c.684A>G (p.Leu228=) c.429A>G (p.Leu143=) n.790A>G c.915A>G (p.Leu305=) c.963A>G (p.Leu321=) c.960A>G (p.Leu320=) c.927A>G (p.Leu309=) | gnomAD v4 |
| 3 | g.189867916A>T | CA355755021 | TP63 | c.966A>T (p.Leu322Phe) c.684A>T (p.Leu228Phe) c.429A>T (p.Leu143Phe) n.790A>T c.915A>T (p.Leu305Phe) c.963A>T (p.Leu321Phe) c.960A>T (p.Leu320Phe) c.927A>T (p.Leu309Phe) |