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 |
|---|---|---|---|---|---|
| 8 | g.43122642T>A | CA371122735 | POMK | c.818T>A (p.Met273Lys) c.*614T>A (n.*614T>A) c.536T>A (p.Met179Lys) c.*738T>A (n.*738T>A) c.776T>A (p.Met259Lys) c.*603T>A (n.*603T>A) | |
| 8 | g.43122642T>C | CA371122736 | POMK | c.818T>C (p.Met273Thr) c.*614T>C (n.*614T>C) c.536T>C (p.Met179Thr) c.*738T>C (n.*738T>C) c.776T>C (p.Met259Thr) c.*603T>C (n.*603T>C) | |
| 8 | g.43122642T>G | CA371122737 | POMK | c.818T>G (p.Met273Arg) c.*614T>G (n.*614T>G) c.536T>G (p.Met179Arg) c.*738T>G (n.*738T>G) c.776T>G (p.Met259Arg) c.*603T>G (n.*603T>G) | |
| 8 | g.43122643G>A | CA371122738 | POMK | c.819G>A (p.Met273Ile) c.*615G>A (n.*615G>A) c.537G>A (p.Met179Ile) c.*739G>A (n.*739G>A) c.777G>A (p.Met259Ile) c.*604G>A (n.*604G>A) | gnomAD v4 |
| 8 | g.43122643G>C | CA371122739 | POMK | c.819G>C (p.Met273Ile) c.*615G>C (n.*615G>C) c.537G>C (p.Met179Ile) c.*739G>C (n.*739G>C) c.777G>C (p.Met259Ile) c.*604G>C (n.*604G>C) | |
| 8 | g.43122643G>T | CA371122740 | POMK | c.819G>T (p.Met273Ile) c.*615G>T (n.*615G>T) c.537G>T (p.Met179Ile) c.*739G>T (n.*739G>T) c.777G>T (p.Met259Ile) c.*604G>T (n.*604G>T) | |
| 8 | g.43122644C>A | CA371122741 | POMK | c.820C>A (p.Pro274Thr) c.*616C>A (n.*616C>A) c.538C>A (p.Pro180Thr) c.*740C>A (n.*740C>A) c.778C>A (p.Pro260Thr) c.*605C>A (n.*605C>A) | |
| 8 | g.43122644C= | CA1779747776 | POMK | c.820C= (p.Pro274=) c.*616C= (n.*616C=) c.538C= (p.Pro180=) c.*740C= (n.*740C=) c.778C= (p.Pro260=) c.*605C= (n.*605C=) | |
| 8 | g.43122644C>G | CA371122742 | POMK | c.820C>G (p.Pro274Ala) c.*616C>G (n.*616C>G) c.538C>G (p.Pro180Ala) c.*740C>G (n.*740C>G) c.778C>G (p.Pro260Ala) c.*605C>G (n.*605C>G) | |
| 8 | g.43122644C>T | CA176080596 | POMK | c.820C>T (p.Pro274Ser) c.*616C>T (n.*616C>T) c.538C>T (p.Pro180Ser) c.*740C>T (n.*740C>T) c.778C>T (p.Pro260Ser) c.*605C>T (n.*605C>T) | dbSNP |
| 8 | g.43122645C>A | CA371122743 | POMK | c.821C>A (p.Pro274His) c.*617C>A (n.*617C>A) c.539C>A (p.Pro180His) c.*741C>A (n.*741C>A) c.779C>A (p.Pro260His) c.*606C>A (n.*606C>A) | gnomAD v4 |
| 8 | g.43122645C>G | CA371122744 | POMK | c.821C>G (p.Pro274Arg) c.*617C>G (n.*617C>G) c.539C>G (p.Pro180Arg) c.*741C>G (n.*741C>G) c.779C>G (p.Pro260Arg) c.*606C>G (n.*606C>G) | |
| 8 | g.43122645C>T | CA371122745 | POMK | c.821C>T (p.Pro274Leu) c.*617C>T (n.*617C>T) c.539C>T (p.Pro180Leu) c.*741C>T (n.*741C>T) c.779C>T (p.Pro260Leu) c.*606C>T (n.*606C>T) | gnomAD v4 |
| 8 | g.43122646C>A | CA460787321 | POMK | c.822C>A (p.Pro274=) c.*618C>A (n.*618C>A) c.540C>A (p.Pro180=) c.*742C>A (n.*742C>A) c.780C>A (p.Pro260=) c.*607C>A (n.*607C>A) | |
| 8 | g.43122646C= | CA1779747780 | POMK | c.822C= (p.Pro274=) c.*618C= (n.*618C=) c.540C= (p.Pro180=) c.*742C= (n.*742C=) c.780C= (p.Pro260=) c.*607C= (n.*607C=) | |
| 8 | g.43122646C>G | CA460787322 | POMK | c.822C>G (p.Pro274=) c.*618C>G (n.*618C>G) c.540C>G (p.Pro180=) c.*742C>G (n.*742C>G) c.780C>G (p.Pro260=) c.*607C>G (n.*607C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.43122646C>T | CA460787323 | POMK | c.822C>T (p.Pro274=) c.*618C>T (n.*618C>T) c.540C>T (p.Pro180=) c.*742C>T (n.*742C>T) c.780C>T (p.Pro260=) c.*607C>T (n.*607C>T) | ClinVar |
| 8 | g.43122647T>A | CA371122746 | POMK | c.823T>A (p.Ser275Thr) c.*619T>A (n.*619T>A) c.541T>A (p.Ser181Thr) c.*743T>A (n.*743T>A) c.781T>A (p.Ser261Thr) c.*608T>A (n.*608T>A) | |
| 8 | g.43122647T>C | CA371122747 | POMK | c.823T>C (p.Ser275Pro) c.*619T>C (n.*619T>C) c.541T>C (p.Ser181Pro) c.*743T>C (n.*743T>C) c.781T>C (p.Ser261Pro) c.*608T>C (n.*608T>C) | gnomAD v4 |
| 8 | g.43122647T>G | CA371122748 | POMK | c.823T>G (p.Ser275Ala) c.*619T>G (n.*619T>G) c.541T>G (p.Ser181Ala) c.*743T>G (n.*743T>G) c.781T>G (p.Ser261Ala) c.*608T>G (n.*608T>G) | |
| 8 | g.43122647_43122652del | CA2779904289 | POMK | c.823_828del (p.Ser275_Tyr276del) c.*619_*624del (n.*619_*624del) c.541_546del (p.Ser181_Tyr182del) c.*743_*748del (n.*743_*748del) c.781_786del (p.Ser261_Tyr262del) c.*608_*613del (n.*608_*613del) | |
| 8 | g.43122648C>A | CA371122749 | POMK | c.824C>A (p.Ser275Ter) c.*620C>A (n.*620C>A) c.542C>A (p.Ser181Ter) c.*744C>A (n.*744C>A) c.782C>A (p.Ser261Ter) c.*609C>A (n.*609C>A) | |
| 8 | g.43122648C>G | CA371122750 | POMK | c.824C>G (p.Ser275Ter) c.*620C>G (n.*620C>G) c.542C>G (p.Ser181Ter) c.*744C>G (n.*744C>G) c.782C>G (p.Ser261Ter) c.*609C>G (n.*609C>G) | |
| 8 | g.43122648C>T | CA371122751 | POMK | c.824C>T (p.Ser275Leu) c.*620C>T (n.*620C>T) c.542C>T (p.Ser181Leu) c.*744C>T (n.*744C>T) c.782C>T (p.Ser261Leu) c.*609C>T (n.*609C>T) | |
| 8 | g.43122649A= | CA1779747784 | POMK | c.825A= (p.Ser275=) c.*621A= (n.*621A=) c.543A= (p.Ser181=) c.*745A= (n.*745A=) c.783A= (p.Ser261=) c.*610A= (n.*610A=) | |
| 8 | g.43122649A>C | CA460787324 | POMK | c.825A>C (p.Ser275=) c.*621A>C (n.*621A>C) c.543A>C (p.Ser181=) c.*745A>C (n.*745A>C) c.783A>C (p.Ser261=) c.*610A>C (n.*610A>C) | dbSNP gnomAD v2 |
| 8 | g.43122649A>G | CA460787325 | POMK | c.825A>G (p.Ser275=) c.*621A>G (n.*621A>G) c.543A>G (p.Ser181=) c.*745A>G (n.*745A>G) c.783A>G (p.Ser261=) c.*610A>G (n.*610A>G) | gnomAD v4 |
| 8 | g.43122649A>T | CA460787327 | POMK | c.825A>T (p.Ser275=) c.*621A>T (n.*621A>T) c.543A>T (p.Ser181=) c.*745A>T (n.*745A>T) c.783A>T (p.Ser261=) c.*610A>T (n.*610A>T) | ClinVar |
| 8 | g.43122650T>A | CA371122752 | POMK | c.826T>A (p.Tyr276Asn) c.*622T>A (n.*622T>A) c.544T>A (p.Tyr182Asn) c.*746T>A (n.*746T>A) c.784T>A (p.Tyr262Asn) c.*611T>A (n.*611T>A) | |
| 8 | g.43122650T>C | CA371122753 | POMK | c.826T>C (p.Tyr276His) c.*622T>C (n.*622T>C) c.544T>C (p.Tyr182His) c.*746T>C (n.*746T>C) c.784T>C (p.Tyr262His) c.*611T>C (n.*611T>C) | |
| 8 | g.43122650T>G | CA371122754 | POMK | c.826T>G (p.Tyr276Asp) c.*622T>G (n.*622T>G) c.544T>G (p.Tyr182Asp) c.*746T>G (n.*746T>G) c.784T>G (p.Tyr262Asp) c.*611T>G (n.*611T>G) | gnomAD v4 |
| 8 | g.43122651A= | CA1779747790 | POMK | c.827A= (p.Tyr276=) c.*623A= (n.*623A=) c.545A= (p.Tyr182=) c.*747A= (n.*747A=) c.785A= (p.Tyr262=) c.*612A= (n.*612A=) | |
| 8 | g.43122651A>C | CA371122755 | POMK | c.827A>C (p.Tyr276Ser) c.*623A>C (n.*623A>C) c.545A>C (p.Tyr182Ser) c.*747A>C (n.*747A>C) c.785A>C (p.Tyr262Ser) c.*612A>C (n.*612A>C) | |
| 8 | g.43122651A>G | CA371122757 | POMK | c.827A>G (p.Tyr276Cys) c.*623A>G (n.*623A>G) c.545A>G (p.Tyr182Cys) c.*747A>G (n.*747A>G) c.785A>G (p.Tyr262Cys) c.*612A>G (n.*612A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43122651A>T | CA371122756 | POMK | c.827A>T (p.Tyr276Phe) c.*623A>T (n.*623A>T) c.545A>T (p.Tyr182Phe) c.*747A>T (n.*747A>T) c.785A>T (p.Tyr262Phe) c.*612A>T (n.*612A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43122652T>A | CA371122758 | POMK | c.828T>A (p.Tyr276Ter) c.*624T>A (n.*624T>A) c.546T>A (p.Tyr182Ter) c.*748T>A (n.*748T>A) c.786T>A (p.Tyr262Ter) c.*613T>A (n.*613T>A) | |
| 8 | g.43122652T>C | CA460787334 | POMK | c.828T>C (p.Tyr276=) c.*624T>C (n.*624T>C) c.546T>C (p.Tyr182=) c.*748T>C (n.*748T>C) c.786T>C (p.Tyr262=) c.*613T>C (n.*613T>C) | |
| 8 | g.43122652T>G | CA371122759 | POMK | c.828T>G (p.Tyr276Ter) c.*624T>G (n.*624T>G) c.546T>G (p.Tyr182Ter) c.*748T>G (n.*748T>G) c.786T>G (p.Tyr262Ter) c.*613T>G (n.*613T>G) | |
| 8 | g.43122653G>A | CA371122760 | POMK | c.829G>A (p.Asp277Asn) c.*625G>A (n.*625G>A) c.547G>A (p.Asp183Asn) c.*749G>A (n.*749G>A) c.787G>A (p.Asp263Asn) c.*614G>A (n.*614G>A) | |
| 8 | g.43122653G>C | CA371122761 | POMK | c.829G>C (p.Asp277His) c.*625G>C (n.*625G>C) c.547G>C (p.Asp183His) c.*749G>C (n.*749G>C) c.787G>C (p.Asp263His) c.*614G>C (n.*614G>C) | |
| 8 | g.43122653G>T | CA371122762 | POMK | c.829G>T (p.Asp277Tyr) c.*625G>T (n.*625G>T) c.547G>T (p.Asp183Tyr) c.*749G>T (n.*749G>T) c.787G>T (p.Asp263Tyr) c.*614G>T (n.*614G>T) | |
| 8 | g.43122654A= | CA1779747793 | POMK | c.830A= (p.Asp277=) c.*626A= (n.*626A=) c.548A= (p.Asp183=) c.*750A= (n.*750A=) c.788A= (p.Asp263=) c.*615A= (n.*615A=) | |
| 8 | g.43122654A>C | CA371122763 | POMK | c.830A>C (p.Asp277Ala) c.*626A>C (n.*626A>C) c.548A>C (p.Asp183Ala) c.*750A>C (n.*750A>C) c.788A>C (p.Asp263Ala) c.*615A>C (n.*615A>C) | |
| 8 | g.43122654A>G | CA371122764 | POMK | c.830A>G (p.Asp277Gly) c.*626A>G (n.*626A>G) c.548A>G (p.Asp183Gly) c.*750A>G (n.*750A>G) c.788A>G (p.Asp263Gly) c.*615A>G (n.*615A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43122654A>T | CA371122765 | POMK | c.830A>T (p.Asp277Val) c.*626A>T (n.*626A>T) c.548A>T (p.Asp183Val) c.*750A>T (n.*750A>T) c.788A>T (p.Asp263Val) c.*615A>T (n.*615A>T) | |
| 8 | g.43122655T>A | CA371122766 | POMK | c.831T>A (p.Asp277Glu) c.*627T>A (n.*627T>A) c.549T>A (p.Asp183Glu) c.*751T>A (n.*751T>A) c.789T>A (p.Asp263Glu) c.*616T>A (n.*616T>A) | |
| 8 | g.43122655T>C | CA460787337 | POMK | c.831T>C (p.Asp277=) c.*627T>C (n.*627T>C) c.549T>C (p.Asp183=) c.*751T>C (n.*751T>C) c.789T>C (p.Asp263=) c.*616T>C (n.*616T>C) | |
| 8 | g.43122655T>G | CA371122767 | POMK | c.831T>G (p.Asp277Glu) c.*627T>G (n.*627T>G) c.549T>G (p.Asp183Glu) c.*751T>G (n.*751T>G) c.789T>G (p.Asp263Glu) c.*616T>G (n.*616T>G) | gnomAD v4 |
| 8 | g.43122656G>A | CA371122769 | POMK | c.832G>A (p.Glu278Lys) c.*628G>A (n.*628G>A) c.550G>A (p.Glu184Lys) c.*752G>A (n.*752G>A) c.790G>A (p.Glu264Lys) c.*617G>A (n.*617G>A) | |
| 8 | g.43122656G>C | CA371122770 | POMK | c.832G>C (p.Glu278Gln) c.*628G>C (n.*628G>C) c.550G>C (p.Glu184Gln) c.*752G>C (n.*752G>C) c.790G>C (p.Glu264Gln) c.*617G>C (n.*617G>C) |