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.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) | |
| 2 | g.98395938G>A | CA427568344 | CNGA3 | c.768G>A (p.Leu256=) c.780G>A (p.Leu260=) c.714G>A (p.Leu238=) c.879G>A (p.Leu293=) c.933G>A (p.Leu311=) | |
| 2 | g.98395938G>C | CA427568345 | CNGA3 | c.768G>C (p.Leu256=) c.780G>C (p.Leu260=) c.714G>C (p.Leu238=) c.879G>C (p.Leu293=) c.933G>C (p.Leu311=) | dbSNP gnomAD v4 |
| 2 | g.98395938G= | CA1273419687 | CNGA3 | c.768G= (p.Leu256=) c.780G= (p.Leu260=) c.714G= (p.Leu238=) c.879G= (p.Leu293=) c.933G= (p.Leu311=) | |
| 2 | g.98395938G>T | CA427568348 | CNGA3 | c.768G>T (p.Leu256=) c.780G>T (p.Leu260=) c.714G>T (p.Leu238=) c.879G>T (p.Leu293=) c.933G>T (p.Leu311=) | |
| 2 | g.98395939G>A | CA347832109 | CNGA3 | c.769G>A (p.Val257Ile) c.781G>A (p.Val261Ile) c.715G>A (p.Val239Ile) c.880G>A (p.Val294Ile) c.934G>A (p.Val312Ile) | gnomAD v4 |
| 2 | g.98395939G>C | CA347832110 | CNGA3 | c.769G>C (p.Val257Leu) c.781G>C (p.Val261Leu) c.715G>C (p.Val239Leu) c.880G>C (p.Val294Leu) c.934G>C (p.Val312Leu) | |
| 2 | g.98395939G>T | CA347832111 | CNGA3 | c.769G>T (p.Val257Phe) c.781G>T (p.Val261Phe) c.715G>T (p.Val239Phe) c.880G>T (p.Val294Phe) c.934G>T (p.Val312Phe) | |
| 2 | g.98395940T>A | CA347832112 | CNGA3 | c.770T>A (p.Val257Asp) c.782T>A (p.Val261Asp) c.716T>A (p.Val239Asp) c.881T>A (p.Val294Asp) c.935T>A (p.Val312Asp) | |
| 2 | g.98395940T>C | CA347832113 | CNGA3 | c.770T>C (p.Val257Ala) c.782T>C (p.Val261Ala) c.716T>C (p.Val239Ala) c.881T>C (p.Val294Ala) c.935T>C (p.Val312Ala) | |
| 2 | g.98395940T>G | CA347832114 | CNGA3 | c.770T>G (p.Val257Gly) c.782T>G (p.Val261Gly) c.716T>G (p.Val239Gly) c.881T>G (p.Val294Gly) c.935T>G (p.Val312Gly) | |
| 2 | g.98395941C>A | CA427568359 | CNGA3 | c.771C>A (p.Val257=) c.783C>A (p.Val261=) c.717C>A (p.Val239=) c.882C>A (p.Val294=) c.936C>A (p.Val312=) | |
| 2 | g.98395941C= | CA1273419688 | CNGA3 | c.771C= (p.Val257=) c.783C= (p.Val261=) c.717C= (p.Val239=) c.882C= (p.Val294=) c.936C= (p.Val312=) | |
| 2 | g.98395941C>G | CA427568357 | CNGA3 | c.771C>G (p.Val257=) c.783C>G (p.Val261=) c.717C>G (p.Val239=) c.882C>G (p.Val294=) c.936C>G (p.Val312=) | dbSNP |
| 2 | g.98395941C>T | CA427568361 | CNGA3 | c.771C>T (p.Val257=) c.783C>T (p.Val261=) c.717C>T (p.Val239=) c.882C>T (p.Val294=) c.936C>T (p.Val312=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.98395942C>A | CA347832115 | CNGA3 | c.772C>A (p.Pro258Thr) c.784C>A (p.Pro262Thr) c.718C>A (p.Pro240Thr) c.883C>A (p.Pro295Thr) c.937C>A (p.Pro313Thr) | |
| 2 | g.98395942C= | CA1273419689 | CNGA3 | c.772C= (p.Pro258=) c.784C= (p.Pro262=) c.718C= (p.Pro240=) c.883C= (p.Pro295=) c.937C= (p.Pro313=) | |
| 2 | g.98395942C>G | CA347832116 | CNGA3 | c.772C>G (p.Pro258Ala) c.784C>G (p.Pro262Ala) c.718C>G (p.Pro240Ala) c.883C>G (p.Pro295Ala) c.937C>G (p.Pro313Ala) | ClinVar dbSNP |
| 2 | g.98395942C>T | CA347832117 | CNGA3 | c.772C>T (p.Pro258Ser) c.784C>T (p.Pro262Ser) c.718C>T (p.Pro240Ser) c.883C>T (p.Pro295Ser) c.937C>T (p.Pro313Ser) | dbSNP gnomAD v2 |
| 2 | g.98395943C>A | CA347832118 | CNGA3 | c.773C>A (p.Pro258His) c.785C>A (p.Pro262His) c.719C>A (p.Pro240His) c.884C>A (p.Pro295His) c.938C>A (p.Pro313His) | |
| 2 | g.98395943C>G | CA347832119 | CNGA3 | c.773C>G (p.Pro258Arg) c.785C>G (p.Pro262Arg) c.719C>G (p.Pro240Arg) c.884C>G (p.Pro295Arg) c.938C>G (p.Pro313Arg) | gnomAD v4 |
| 2 | g.98395943C>T | CA347832120 | CNGA3 | c.773C>T (p.Pro258Leu) c.785C>T (p.Pro262Leu) c.719C>T (p.Pro240Leu) c.884C>T (p.Pro295Leu) c.938C>T (p.Pro313Leu) | |
| 2 | g.98395944C>A | CA427568370 | CNGA3 | c.774C>A (p.Pro258=) c.786C>A (p.Pro262=) c.720C>A (p.Pro240=) c.885C>A (p.Pro295=) c.939C>A (p.Pro313=) | |
| 2 | g.98395944C>G | CA427568372 | CNGA3 | c.774C>G (p.Pro258=) c.786C>G (p.Pro262=) c.720C>G (p.Pro240=) c.885C>G (p.Pro295=) c.939C>G (p.Pro313=) | |
| 2 | g.98395944C>T | CA427568374 | CNGA3 | c.774C>T (p.Pro258=) c.786C>T (p.Pro262=) c.720C>T (p.Pro240=) c.885C>T (p.Pro295=) c.939C>T (p.Pro313=) | |
| 2 | g.98395947_98395973del | CA2699953463 | CNGA3 | c.777_803del (p.Asp260_Thr268del) c.789_815del (p.Asp264_Thr272del) c.723_749del (p.Asp242_Thr250del) c.888_914del (p.Asp297_Thr305del) c.942_968del (p.Asp315_Thr323del) | dbSNP |