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 |
|---|---|---|---|---|---|
| 2 | g.98393909_98399093del | CA2499216316 | CNGA3 | c.785-1935_*1838del c.839-1935_*1838del | ClinVar |
| 2 | g.98395924G>A | CA347832079 | CNGA3 | c.754G>A (p.Asp252Asn) c.766G>A (p.Asp256Asn) c.700G>A (p.Asp234Asn) c.865G>A (p.Asp289Asn) c.919G>A (p.Asp307Asn) | |
| 2 | g.98395924G>C | CA1793886 | CNGA3 | c.754G>C (p.Asp252His) c.766G>C (p.Asp256His) c.700G>C (p.Asp234His) c.865G>C (p.Asp289His) c.919G>C (p.Asp307His) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 2 | g.98395924G= | CA1273419680 | CNGA3 | c.754G= (p.Asp252=) c.766G= (p.Asp256=) c.700G= (p.Asp234=) c.865G= (p.Asp289=) c.919G= (p.Asp307=) | |
| 2 | g.98395924G>T | CA347832080 | CNGA3 | c.754G>T (p.Asp252Tyr) c.766G>T (p.Asp256Tyr) c.700G>T (p.Asp234Tyr) c.865G>T (p.Asp289Tyr) c.919G>T (p.Asp307Tyr) | |
| 2 | g.98395925A= | CA1273419681 | CNGA3 | c.755A= (p.Asp252=) c.767A= (p.Asp256=) c.701A= (p.Asp234=) c.866A= (p.Asp289=) c.920A= (p.Asp307=) | |
| 2 | g.98395925A>C | CA347832081 | CNGA3 | c.755A>C (p.Asp252Ala) c.767A>C (p.Asp256Ala) c.701A>C (p.Asp234Ala) c.866A>C (p.Asp289Ala) c.920A>C (p.Asp307Ala) | |
| 2 | g.98395925A>G | CA347832082 | CNGA3 | c.755A>G (p.Asp252Gly) c.767A>G (p.Asp256Gly) c.701A>G (p.Asp234Gly) c.866A>G (p.Asp289Gly) c.920A>G (p.Asp307Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.98395925A>T | CA347832083 | CNGA3 | c.755A>T (p.Asp252Val) c.767A>T (p.Asp256Val) c.701A>T (p.Asp234Val) c.866A>T (p.Asp289Val) c.920A>T (p.Asp307Val) | |
| 2 | g.98395926T>A | CA347832084 | CNGA3 | c.756T>A (p.Asp252Glu) c.768T>A (p.Asp256Glu) c.702T>A (p.Asp234Glu) c.867T>A (p.Asp289Glu) c.921T>A (p.Asp307Glu) | |
| 2 | g.98395926T>C | CA427568291 | CNGA3 | c.756T>C (p.Asp252=) c.768T>C (p.Asp256=) c.702T>C (p.Asp234=) c.867T>C (p.Asp289=) c.921T>C (p.Asp307=) | |
| 2 | g.98395926T>G | CA347832085 | CNGA3 | c.756T>G (p.Asp252Glu) c.768T>G (p.Asp256Glu) c.702T>G (p.Asp234Glu) c.867T>G (p.Asp289Glu) c.921T>G (p.Asp307Glu) | |
| 2 | g.98395927G>A | CA347832086 | CNGA3 | c.757G>A (p.Val253Met) c.769G>A (p.Val257Met) c.703G>A (p.Val235Met) c.868G>A (p.Val290Met) c.922G>A (p.Val308Met) | |
| 2 | g.98395927G>C | CA347832087 | CNGA3 | c.757G>C (p.Val253Leu) c.769G>C (p.Val257Leu) c.703G>C (p.Val235Leu) c.868G>C (p.Val290Leu) c.922G>C (p.Val308Leu) | |
| 2 | g.98395927G= | CA1273419682 | CNGA3 | c.757G= (p.Val253=) c.769G= (p.Val257=) c.703G= (p.Val235=) c.868G= (p.Val290=) c.922G= (p.Val308=) | |
| 2 | g.98395927G>T | CA347832088 | CNGA3 | c.757G>T (p.Val253Leu) c.769G>T (p.Val257Leu) c.703G>T (p.Val235Leu) c.868G>T (p.Val290Leu) c.922G>T (p.Val308Leu) | dbSNP gnomAD v4 |
| 2 | g.98395928T>A | CA347832089 | CNGA3 | c.758T>A (p.Val253Glu) c.770T>A (p.Val257Glu) c.704T>A (p.Val235Glu) c.869T>A (p.Val290Glu) c.923T>A (p.Val308Glu) | |
| 2 | g.98395928T>C | CA347832090 | CNGA3 | c.758T>C (p.Val253Ala) c.770T>C (p.Val257Ala) c.704T>C (p.Val235Ala) c.869T>C (p.Val290Ala) c.923T>C (p.Val308Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.98395928T>G | CA347832091 | CNGA3 | c.758T>G (p.Val253Gly) c.770T>G (p.Val257Gly) c.704T>G (p.Val235Gly) c.869T>G (p.Val290Gly) c.923T>G (p.Val308Gly) | |
| 2 | g.98395928T= | CA1273419683 | CNGA3 | c.758T= (p.Val253=) c.770T= (p.Val257=) c.704T= (p.Val235=) c.869T= (p.Val290=) c.923T= (p.Val308=) | |
| 2 | g.98395929G>A | CA427568304 | CNGA3 | c.759G>A (p.Val253=) c.771G>A (p.Val257=) c.705G>A (p.Val235=) c.870G>A (p.Val290=) c.924G>A (p.Val308=) | |
| 2 | g.98395929G>C | CA427568302 | CNGA3 | c.759G>C (p.Val253=) c.771G>C (p.Val257=) c.705G>C (p.Val235=) c.870G>C (p.Val290=) c.924G>C (p.Val308=) | |
| 2 | g.98395929G>T | CA427568300 | CNGA3 | c.759G>T (p.Val253=) c.771G>T (p.Val257=) c.705G>T (p.Val235=) c.870G>T (p.Val290=) c.924G>T (p.Val308=) | |
| 2 | g.98395930T>A | CA347832093 | CNGA3 | c.760T>A (p.Leu254Met) c.772T>A (p.Leu258Met) c.706T>A (p.Leu236Met) c.871T>A (p.Leu291Met) c.925T>A (p.Leu309Met) | |
| 2 | g.98395930T>C | CA427568307 | CNGA3 | c.760T>C (p.Leu254=) c.772T>C (p.Leu258=) c.706T>C (p.Leu236=) c.871T>C (p.Leu291=) c.925T>C (p.Leu309=) | |
| 2 | g.98395930T>G | CA347832092 | CNGA3 | c.760T>G (p.Leu254Val) c.772T>G (p.Leu258Val) c.706T>G (p.Leu236Val) c.871T>G (p.Leu291Val) c.925T>G (p.Leu309Val) | |
| 2 | g.98395931T>A | CA347832094 | CNGA3 | c.761T>A (p.Leu254Ter) c.773T>A (p.Leu258Ter) c.707T>A (p.Leu236Ter) c.872T>A (p.Leu291Ter) c.926T>A (p.Leu309Ter) | |
| 2 | g.98395931T>C | CA347832096 | CNGA3 | c.761T>C (p.Leu254Ser) c.773T>C (p.Leu258Ser) c.707T>C (p.Leu236Ser) c.872T>C (p.Leu291Ser) c.926T>C (p.Leu309Ser) | |
| 2 | g.98395931T>G | CA347832095 | CNGA3 | c.761T>G (p.Leu254Trp) c.773T>G (p.Leu258Trp) c.707T>G (p.Leu236Trp) c.872T>G (p.Leu291Trp) c.926T>G (p.Leu309Trp) | |
| 2 | g.98395932G>A | CA427568317 | CNGA3 | c.762G>A (p.Leu254=) c.774G>A (p.Leu258=) c.708G>A (p.Leu236=) c.873G>A (p.Leu291=) c.927G>A (p.Leu309=) | |
| 2 | g.98395932G>C | CA347832097 | CNGA3 | c.762G>C (p.Leu254Phe) c.774G>C (p.Leu258Phe) c.708G>C (p.Leu236Phe) c.873G>C (p.Leu291Phe) c.927G>C (p.Leu309Phe) | |
| 2 | g.98395932G>T | CA347832098 | CNGA3 | c.762G>T (p.Leu254Phe) c.774G>T (p.Leu258Phe) c.708G>T (p.Leu236Phe) c.873G>T (p.Leu291Phe) c.927G>T (p.Leu309Phe) | |
| 2 | g.98395933T>A | CA347832099 | CNGA3 | c.763T>A (p.Ser255Thr) c.775T>A (p.Ser259Thr) c.709T>A (p.Ser237Thr) c.874T>A (p.Ser292Thr) c.928T>A (p.Ser310Thr) | |
| 2 | g.98395933T>C | CA347832100 | CNGA3 | c.763T>C (p.Ser255Pro) c.775T>C (p.Ser259Pro) c.709T>C (p.Ser237Pro) c.874T>C (p.Ser292Pro) c.928T>C (p.Ser310Pro) | |
| 2 | g.98395933T>G | CA347832101 | CNGA3 | c.763T>G (p.Ser255Ala) c.775T>G (p.Ser259Ala) c.709T>G (p.Ser237Ala) c.874T>G (p.Ser292Ala) c.928T>G (p.Ser310Ala) | |
| 2 | g.98395934C>A | CA347832102 | CNGA3 | c.764C>A (p.Ser255Tyr) c.776C>A (p.Ser259Tyr) c.710C>A (p.Ser237Tyr) c.875C>A (p.Ser292Tyr) c.929C>A (p.Ser310Tyr) | |
| 2 | g.98395934C= | CA1273419684 | CNGA3 | c.764C= (p.Ser255=) c.776C= (p.Ser259=) c.710C= (p.Ser237=) c.875C= (p.Ser292=) c.929C= (p.Ser310=) | |
| 2 | g.98395934C>G | CA347832103 | CNGA3 | c.764C>G (p.Ser255Cys) c.776C>G (p.Ser259Cys) c.710C>G (p.Ser237Cys) c.875C>G (p.Ser292Cys) c.929C>G (p.Ser310Cys) | |
| 2 | g.98395934C>T | CA52635206 | CNGA3 | c.764C>T (p.Ser255Phe) c.776C>T (p.Ser259Phe) c.710C>T (p.Ser237Phe) c.875C>T (p.Ser292Phe) c.929C>T (p.Ser310Phe) | dbSNP |
| 2 | g.98395935C>A | CA427568329 | CNGA3 | c.765C>A (p.Ser255=) c.777C>A (p.Ser259=) c.711C>A (p.Ser237=) c.876C>A (p.Ser292=) c.930C>A (p.Ser310=) | |
| 2 | g.98395935C= | CA1273419685 | CNGA3 | c.765C= (p.Ser255=) c.777C= (p.Ser259=) c.711C= (p.Ser237=) c.876C= (p.Ser292=) c.930C= (p.Ser310=) | |
| 2 | g.98395935C>G | CA427568332 | CNGA3 | c.765C>G (p.Ser255=) c.777C>G (p.Ser259=) c.711C>G (p.Ser237=) c.876C>G (p.Ser292=) c.930C>G (p.Ser310=) | |
| 2 | g.98395935C>T | CA427568330 | CNGA3 | c.765C>T (p.Ser255=) c.777C>T (p.Ser259=) c.711C>T (p.Ser237=) c.876C>T (p.Ser292=) c.930C>T (p.Ser310=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.98395936C>A | CA347832104 | CNGA3 | c.766C>A (p.Leu256Met) c.778C>A (p.Leu260Met) c.712C>A (p.Leu238Met) c.877C>A (p.Leu293Met) c.931C>A (p.Leu311Met) | |
| 2 | g.98395936C= | CA1273419686 | CNGA3 | c.766C= (p.Leu256=) c.778C= (p.Leu260=) c.712C= (p.Leu238=) c.877C= (p.Leu293=) c.931C= (p.Leu311=) | |
| 2 | g.98395936C>G | CA347832105 | CNGA3 | c.766C>G (p.Leu256Val) c.778C>G (p.Leu260Val) c.712C>G (p.Leu238Val) c.877C>G (p.Leu293Val) c.931C>G (p.Leu311Val) | |
| 2 | g.98395936C>T | CA1793887 | CNGA3 | c.766C>T (p.Leu256=) c.778C>T (p.Leu260=) c.712C>T (p.Leu238=) c.877C>T (p.Leu293=) c.931C>T (p.Leu311=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.98395937T>A | CA347832108 | CNGA3 | c.767T>A (p.Leu256Gln) c.779T>A (p.Leu260Gln) c.713T>A (p.Leu238Gln) c.878T>A (p.Leu293Gln) c.932T>A (p.Leu311Gln) | |
| 2 | g.98395937T>C | CA347832107 | CNGA3 | c.767T>C (p.Leu256Pro) c.779T>C (p.Leu260Pro) c.713T>C (p.Leu238Pro) c.878T>C (p.Leu293Pro) c.932T>C (p.Leu311Pro) | ClinVar dbSNP |
| 2 | g.98395937T>G | CA347832106 | CNGA3 | c.767T>G (p.Leu256Arg) c.779T>G (p.Leu260Arg) c.713T>G (p.Leu238Arg) c.878T>G (p.Leu293Arg) c.932T>G (p.Leu311Arg) |