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 |
|---|---|---|---|---|---|
| 1 | g.243637691T>A | CA345669827 | AKT3 | c.481A>T (p.Lys161Ter) c.238A>T (p.Lys80Ter) c.298A>T (p.Lys100Ter) c.355A>T (p.Lys119Ter) | gnomAD v4 |
| 1 | g.243637691T>C | CA345669826 | AKT3 | c.481A>G (p.Lys161Glu) c.238A>G (p.Lys80Glu) c.298A>G (p.Lys100Glu) c.355A>G (p.Lys119Glu) | |
| 1 | g.243637691T>G | CA345669825 | AKT3 | c.481A>C (p.Lys161Gln) c.238A>C (p.Lys80Gln) c.298A>C (p.Lys100Gln) c.355A>C (p.Lys119Gln) | ClinVar dbSNP |
| 1 | g.243637691T= | CA1230479423 | AKT3 | c.481A= (p.Lys161=) c.238A= (p.Lys80=) c.298A= (p.Lys100=) c.355A= (p.Lys119=) | |
| 1 | g.243637692C>A | CA424353712 | AKT3 | c.480G>T (p.Gly160=) c.237G>T (p.Gly79=) c.297G>T (p.Gly99=) c.354G>T (p.Gly118=) | gnomAD v4 |
| 1 | g.243637692C>G | CA424353713 | AKT3 | c.480G>C (p.Gly160=) c.237G>C (p.Gly79=) c.297G>C (p.Gly99=) c.354G>C (p.Gly118=) | |
| 1 | g.243637692C>T | CA424353714 | AKT3 | c.480G>A (p.Gly160=) c.237G>A (p.Gly79=) c.297G>A (p.Gly99=) c.354G>A (p.Gly118=) | |
| 1 | g.243637693C>A | CA345669828 | AKT3 | c.479G>T (p.Gly160Val) c.236G>T (p.Gly79Val) c.296G>T (p.Gly99Val) c.353G>T (p.Gly118Val) | dbSNP |
| 1 | g.243637693C>G | CA345669830 | AKT3 | c.479G>C (p.Gly160Ala) c.236G>C (p.Gly79Ala) c.296G>C (p.Gly99Ala) c.353G>C (p.Gly118Ala) | |
| 1 | g.243637693C>T | CA345669829 | AKT3 | c.479G>A (p.Gly160Glu) c.236G>A (p.Gly79Glu) c.296G>A (p.Gly99Glu) c.353G>A (p.Gly118Glu) | COSMIC COSMIC COSMIC |
| 1 | g.243637694C>A | CA345669831 | AKT3 | c.478G>T (p.Gly160Trp) c.235G>T (p.Gly79Trp) c.295G>T (p.Gly99Trp) c.352G>T (p.Gly118Trp) | dbSNP |
| 1 | g.243637694C>G | CA345669833 | AKT3 | c.478G>C (p.Gly160Arg) c.235G>C (p.Gly79Arg) c.295G>C (p.Gly99Arg) c.352G>C (p.Gly118Arg) | |
| 1 | g.243637694C>T | CA345669832 | AKT3 | c.478G>A (p.Gly160Arg) c.235G>A (p.Gly79Arg) c.295G>A (p.Gly99Arg) c.352G>A (p.Gly118Arg) | |
| 1 | g.243637695A>C | CA345669834 | AKT3 | c.477T>G (p.Phe159Leu) c.234T>G (p.Phe78Leu) c.294T>G (p.Phe98Leu) c.351T>G (p.Phe117Leu) | |
| 1 | g.243637695A>G | CA424353718 | AKT3 | c.477T>C (p.Phe159=) c.234T>C (p.Phe78=) c.294T>C (p.Phe98=) c.351T>C (p.Phe117=) | |
| 1 | g.243637695A>T | CA345669835 | AKT3 | c.477T>A (p.Phe159Leu) c.234T>A (p.Phe78Leu) c.294T>A (p.Phe98Leu) c.351T>A (p.Phe117Leu) | |
| 1 | g.243637696A>C | CA345669836 | AKT3 | c.476T>G (p.Phe159Cys) c.233T>G (p.Phe78Cys) c.293T>G (p.Phe98Cys) c.350T>G (p.Phe117Cys) | |
| 1 | g.243637696A>G | CA345669837 | AKT3 | c.476T>C (p.Phe159Ser) c.233T>C (p.Phe78Ser) c.293T>C (p.Phe98Ser) c.350T>C (p.Phe117Ser) | gnomAD v4 |
| 1 | g.243637696A>T | CA345669838 | AKT3 | c.476T>A (p.Phe159Tyr) c.233T>A (p.Phe78Tyr) c.293T>A (p.Phe98Tyr) c.350T>A (p.Phe117Tyr) | |
| 1 | g.243637697A>C | CA345669839 | AKT3 | c.475T>G (p.Phe159Val) c.232T>G (p.Phe78Val) c.292T>G (p.Phe98Val) c.349T>G (p.Phe117Val) | |
| 1 | g.243637697A>G | CA345669840 | AKT3 | c.475T>C (p.Phe159Leu) c.232T>C (p.Phe78Leu) c.292T>C (p.Phe98Leu) c.349T>C (p.Phe117Leu) | |
| 1 | g.243637697A>T | CA345669841 | AKT3 | c.475T>A (p.Phe159Ile) c.232T>A (p.Phe78Ile) c.292T>A (p.Phe98Ile) c.349T>A (p.Phe117Ile) | |
| 1 | g.243637698A>C | CA424353722 | AKT3 | c.474T>G (p.Thr158=) c.231T>G (p.Thr77=) c.291T>G (p.Thr97=) c.348T>G (p.Thr116=) | |
| 1 | g.243637698A>G | CA424353723 | AKT3 | c.474T>C (p.Thr158=) c.231T>C (p.Thr77=) c.291T>C (p.Thr97=) c.348T>C (p.Thr116=) | |
| 1 | g.243637698A>T | CA424353724 | AKT3 | c.474T>A (p.Thr158=) c.231T>A (p.Thr77=) c.291T>A (p.Thr97=) c.348T>A (p.Thr116=) | |
| 1 | g.243637699G>A | CA345669842 | AKT3 | c.473C>T (p.Thr158Ile) c.230C>T (p.Thr77Ile) c.290C>T (p.Thr97Ile) c.347C>T (p.Thr116Ile) | |
| 1 | g.243637699G>C | CA345669843 | AKT3 | c.473C>G (p.Thr158Ser) c.230C>G (p.Thr77Ser) c.290C>G (p.Thr97Ser) c.347C>G (p.Thr116Ser) | |
| 1 | g.243637699G>T | CA345669844 | AKT3 | c.473C>A (p.Thr158Asn) c.230C>A (p.Thr77Asn) c.290C>A (p.Thr97Asn) c.347C>A (p.Thr116Asn) | |
| 1 | g.243637700T>A | CA345669845 | AKT3 | c.472A>T (p.Thr158Ser) c.229A>T (p.Thr77Ser) c.289A>T (p.Thr97Ser) c.346A>T (p.Thr116Ser) | |
| 1 | g.243637700T>C | CA345669846 | AKT3 | c.472A>G (p.Thr158Ala) c.229A>G (p.Thr77Ala) c.289A>G (p.Thr97Ala) c.346A>G (p.Thr116Ala) | |
| 1 | g.243637700T>G | CA345669847 | AKT3 | c.472A>C (p.Thr158Pro) c.229A>C (p.Thr77Pro) c.289A>C (p.Thr97Pro) c.346A>C (p.Thr116Pro) | |
| 1 | g.243637701G>A | CA1484106 | AKT3 | c.471C>T (p.Gly157=) c.228C>T (p.Gly76=) c.288C>T (p.Gly96=) c.345C>T (p.Gly115=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.243637701G>C | CA424353726 | AKT3 | c.471C>G (p.Gly157=) c.228C>G (p.Gly76=) c.288C>G (p.Gly96=) c.345C>G (p.Gly115=) | |
| 1 | g.243637701G= | CA1148896925 | AKT3 | c.471C= (p.Gly157=) c.228C= (p.Gly76=) c.288C= (p.Gly96=) c.345C= (p.Gly115=) | |
| 1 | g.243637701G>T | CA424353727 | AKT3 | c.471C>A (p.Gly157=) c.228C>A (p.Gly76=) c.288C>A (p.Gly96=) c.345C>A (p.Gly115=) | gnomAD v4 |
| 1 | g.243637702C>A | CA345669848 | AKT3 | c.470G>T (p.Gly157Val) c.227G>T (p.Gly76Val) c.287G>T (p.Gly96Val) c.344G>T (p.Gly115Val) | |
| 1 | g.243637702C>G | CA345669849 | AKT3 | c.470G>C (p.Gly157Ala) c.227G>C (p.Gly76Ala) c.287G>C (p.Gly96Ala) c.344G>C (p.Gly115Ala) | |
| 1 | g.243637702C>T | CA345669850 | AKT3 | c.470G>A (p.Gly157Asp) c.227G>A (p.Gly76Asp) c.287G>A (p.Gly96Asp) c.344G>A (p.Gly115Asp) | gnomAD v4 |
| 1 | g.243637703C>A | CA345669851 | AKT3 | c.469G>T (p.Gly157Cys) c.226G>T (p.Gly76Cys) c.286G>T (p.Gly96Cys) c.343G>T (p.Gly115Cys) | COSMIC COSMIC COSMIC |
| 1 | g.243637703C>G | CA345669852 | AKT3 | c.469G>C (p.Gly157Arg) c.226G>C (p.Gly76Arg) c.286G>C (p.Gly96Arg) c.343G>C (p.Gly115Arg) | gnomAD v4 |
| 1 | g.243637703C>T | CA345669853 | AKT3 | c.469G>A (p.Gly157Ser) c.226G>A (p.Gly76Ser) c.286G>A (p.Gly96Ser) c.343G>A (p.Gly115Ser) | |
| 1 | g.243637704T>A | CA345669854 | AKT3 | c.468A>T (p.Lys156Asn) c.225A>T (p.Lys75Asn) c.285A>T (p.Lys95Asn) c.342A>T (p.Lys114Asn) | |
| 1 | g.243637704T>C | CA424353730 | AKT3 | c.468A>G (p.Lys156=) c.225A>G (p.Lys75=) c.285A>G (p.Lys95=) c.342A>G (p.Lys114=) | |
| 1 | g.243637704T>G | CA345669855 | AKT3 | c.468A>C (p.Lys156Asn) c.225A>C (p.Lys75Asn) c.285A>C (p.Lys95Asn) c.342A>C (p.Lys114Asn) | |
| 1 | g.243637706del | CA2574462119 | AKT3 | c.468del (p.Gly157AlafsTer20) c.225del (p.Gly76AlafsTer20) c.285del (p.Gly96AlafsTer20) c.342del (p.Gly115AlafsTer20) | |
| 1 | g.243637705T>A | CA345669856 | AKT3 | c.467A>T (p.Lys156Ile) c.224A>T (p.Lys75Ile) c.284A>T (p.Lys95Ile) c.341A>T (p.Lys114Ile) | |
| 1 | g.243637705T>C | CA345669857 | AKT3 | c.467A>G (p.Lys156Arg) c.224A>G (p.Lys75Arg) c.284A>G (p.Lys95Arg) c.341A>G (p.Lys114Arg) | gnomAD v4 |
| 1 | g.243637705T>G | CA345669858 | AKT3 | c.467A>C (p.Lys156Thr) c.224A>C (p.Lys75Thr) c.284A>C (p.Lys95Thr) c.341A>C (p.Lys114Thr) | |
| 1 | g.243637706T>A | CA345669861 | AKT3 | c.466A>T (p.Lys156Ter) c.223A>T (p.Lys75Ter) c.283A>T (p.Lys95Ter) c.340A>T (p.Lys114Ter) | |
| 1 | g.243637706T>C | CA345669860 | AKT3 | c.466A>G (p.Lys156Glu) c.223A>G (p.Lys75Glu) c.283A>G (p.Lys95Glu) c.340A>G (p.Lys114Glu) |