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.43122632G>A | CA371122710 | POMK | c.808G>A (p.Asp270Asn) c.*604G>A (n.*604G>A) c.526G>A (p.Asp176Asn) c.*728G>A (n.*728G>A) c.766G>A (p.Asp256Asn) c.*593G>A (n.*593G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43122632G>C | CA371122712 | POMK | c.808G>C (p.Asp270His) c.*604G>C (n.*604G>C) c.526G>C (p.Asp176His) c.*728G>C (n.*728G>C) c.766G>C (p.Asp256His) c.*593G>C (n.*593G>C) | ClinVar |
| 8 | g.43122632G= | CA1779747760 | POMK | c.808G= (p.Asp270=) c.*604G= (n.*604G=) c.526G= (p.Asp176=) c.*728G= (n.*728G=) c.766G= (p.Asp256=) c.*593G= (n.*593G=) | |
| 8 | g.43122632G>T | CA371122711 | POMK | c.808G>T (p.Asp270Tyr) c.*604G>T (n.*604G>T) c.526G>T (p.Asp176Tyr) c.*728G>T (n.*728G>T) c.766G>T (p.Asp256Tyr) c.*593G>T (n.*593G>T) | |
| 8 | g.43122633A>C | CA371122713 | POMK | c.809A>C (p.Asp270Ala) c.*605A>C (n.*605A>C) c.527A>C (p.Asp176Ala) c.*729A>C (n.*729A>C) c.767A>C (p.Asp256Ala) c.*594A>C (n.*594A>C) | |
| 8 | g.43122633A>G | CA371122714 | POMK | c.809A>G (p.Asp270Gly) c.*605A>G (n.*605A>G) c.527A>G (p.Asp176Gly) c.*729A>G (n.*729A>G) c.767A>G (p.Asp256Gly) c.*594A>G (n.*594A>G) | gnomAD v4 |
| 8 | g.43122633A>T | CA371122715 | POMK | c.809A>T (p.Asp270Val) c.*605A>T (n.*605A>T) c.527A>T (p.Asp176Val) c.*729A>T (n.*729A>T) c.767A>T (p.Asp256Val) c.*594A>T (n.*594A>T) | |
| 8 | g.43122634T>A | CA371122716 | POMK | c.810T>A (p.Asp270Glu) c.*606T>A (n.*606T>A) c.528T>A (p.Asp176Glu) c.*730T>A (n.*730T>A) c.768T>A (p.Asp256Glu) c.*595T>A (n.*595T>A) | |
| 8 | g.43122634T>C | CA460787310 | POMK | c.810T>C (p.Asp270=) c.*606T>C (n.*606T>C) c.528T>C (p.Asp176=) c.*730T>C (n.*730T>C) c.768T>C (p.Asp256=) c.*595T>C (n.*595T>C) | |
| 8 | g.43122634T>G | CA371122717 | POMK | c.810T>G (p.Asp270Glu) c.*606T>G (n.*606T>G) c.528T>G (p.Asp176Glu) c.*730T>G (n.*730T>G) c.768T>G (p.Asp256Glu) c.*595T>G (n.*595T>G) | |
| 8 | g.43122635G>A | CA371122718 | POMK | c.811G>A (p.Asp271Asn) c.*607G>A (n.*607G>A) c.529G>A (p.Asp177Asn) c.*731G>A (n.*731G>A) c.769G>A (p.Asp257Asn) c.*596G>A (n.*596G>A) | |
| 8 | g.43122635G>C | CA371122719 | POMK | c.811G>C (p.Asp271His) c.*607G>C (n.*607G>C) c.529G>C (p.Asp177His) c.*731G>C (n.*731G>C) c.769G>C (p.Asp257His) c.*596G>C (n.*596G>C) | |
| 8 | g.43122635G>T | CA371122720 | POMK | c.811G>T (p.Asp271Tyr) c.*607G>T (n.*607G>T) c.529G>T (p.Asp177Tyr) c.*731G>T (n.*731G>T) c.769G>T (p.Asp257Tyr) c.*596G>T (n.*596G>T) | |
| 8 | g.43122636A= | CA1779747762 | POMK | c.812A= (p.Asp271=) c.*608A= (n.*608A=) c.530A= (p.Asp177=) c.*732A= (n.*732A=) c.770A= (p.Asp257=) c.*597A= (n.*597A=) | |
| 8 | g.43122636A>C | CA371122721 | POMK | c.812A>C (p.Asp271Ala) c.*608A>C (n.*608A>C) c.530A>C (p.Asp177Ala) c.*732A>C (n.*732A>C) c.770A>C (p.Asp257Ala) c.*597A>C (n.*597A>C) | |
| 8 | g.43122636A>G | CA371122722 | POMK | c.812A>G (p.Asp271Gly) c.*608A>G (n.*608A>G) c.530A>G (p.Asp177Gly) c.*732A>G (n.*732A>G) c.770A>G (p.Asp257Gly) c.*597A>G (n.*597A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122636A>T | CA371122723 | POMK | c.812A>T (p.Asp271Val) c.*608A>T (n.*608A>T) c.530A>T (p.Asp177Val) c.*732A>T (n.*732A>T) c.770A>T (p.Asp257Val) c.*597A>T (n.*597A>T) | |
| 8 | g.43122637T>A | CA371122724 | POMK | c.813T>A (p.Asp271Glu) c.*609T>A (n.*609T>A) c.531T>A (p.Asp177Glu) c.*733T>A (n.*733T>A) c.771T>A (p.Asp257Glu) c.*598T>A (n.*598T>A) | |
| 8 | g.43122637T>C | CA460787311 | POMK | c.813T>C (p.Asp271=) c.*609T>C (n.*609T>C) c.531T>C (p.Asp177=) c.*733T>C (n.*733T>C) c.771T>C (p.Asp257=) c.*598T>C (n.*598T>C) | |
| 8 | g.43122637T>G | CA371122725 | POMK | c.813T>G (p.Asp271Glu) c.*609T>G (n.*609T>G) c.531T>G (p.Asp177Glu) c.*733T>G (n.*733T>G) c.771T>G (p.Asp257Glu) c.*598T>G (n.*598T>G) | |
| 8 | g.43122638C>A | CA371122728 | POMK | c.814C>A (p.Leu272Ile) c.*610C>A (n.*610C>A) c.532C>A (p.Leu178Ile) c.*734C>A (n.*734C>A) c.772C>A (p.Leu258Ile) c.*599C>A (n.*599C>A) | |
| 8 | g.43122638C= | CA1779747769 | POMK | c.814C= (p.Leu272=) c.*610C= (n.*610C=) c.532C= (p.Leu178=) c.*734C= (n.*734C=) c.772C= (p.Leu258=) c.*599C= (n.*599C=) | |
| 8 | g.43122638C>G | CA371122726 | POMK | c.814C>G (p.Leu272Val) c.*610C>G (n.*610C>G) c.532C>G (p.Leu178Val) c.*734C>G (n.*734C>G) c.772C>G (p.Leu258Val) c.*599C>G (n.*599C>G) | dbSNP gnomAD v4 |
| 8 | g.43122638C>T | CA371122727 | POMK | c.814C>T (p.Leu272Phe) c.*610C>T (n.*610C>T) c.532C>T (p.Leu178Phe) c.*734C>T (n.*734C>T) c.772C>T (p.Leu258Phe) c.*599C>T (n.*599C>T) | |
| 8 | g.43122639T>A | CA371122729 | POMK | c.815T>A (p.Leu272His) c.*611T>A (n.*611T>A) c.533T>A (p.Leu178His) c.*735T>A (n.*735T>A) c.773T>A (p.Leu258His) c.*600T>A (n.*600T>A) | gnomAD v4 |
| 8 | g.43122639T>C | CA371122730 | POMK | c.815T>C (p.Leu272Pro) c.*611T>C (n.*611T>C) c.533T>C (p.Leu178Pro) c.*735T>C (n.*735T>C) c.773T>C (p.Leu258Pro) c.*600T>C (n.*600T>C) | |
| 8 | g.43122639T>G | CA371122731 | POMK | c.815T>G (p.Leu272Arg) c.*611T>G (n.*611T>G) c.533T>G (p.Leu178Arg) c.*735T>G (n.*735T>G) c.773T>G (p.Leu258Arg) c.*600T>G (n.*600T>G) | |
| 8 | g.43122640C>A | CA460787315 | POMK | c.816C>A (p.Leu272=) c.*612C>A (n.*612C>A) c.534C>A (p.Leu178=) c.*736C>A (n.*736C>A) c.774C>A (p.Leu258=) c.*601C>A (n.*601C>A) | |
| 8 | g.43122640C>G | CA460787316 | POMK | c.816C>G (p.Leu272=) c.*612C>G (n.*612C>G) c.534C>G (p.Leu178=) c.*736C>G (n.*736C>G) c.774C>G (p.Leu258=) c.*601C>G (n.*601C>G) | |
| 8 | g.43122640C>T | CA460787318 | POMK | c.816C>T (p.Leu272=) c.*612C>T (n.*612C>T) c.534C>T (p.Leu178=) c.*736C>T (n.*736C>T) c.774C>T (p.Leu258=) c.*601C>T (n.*601C>T) | |
| 8 | g.43122641A= | CA1779747773 | POMK | c.817A= (p.Met273=) c.*613A= (n.*613A=) c.535A= (p.Met179=) c.*737A= (n.*737A=) c.775A= (p.Met259=) c.*602A= (n.*602A=) | |
| 8 | g.43122641A>C | CA371122732 | POMK | c.817A>C (p.Met273Leu) c.*613A>C (n.*613A>C) c.535A>C (p.Met179Leu) c.*737A>C (n.*737A>C) c.775A>C (p.Met259Leu) c.*602A>C (n.*602A>C) | dbSNP gnomAD v4 |
| 8 | g.43122641A>G | CA371122733 | POMK | c.817A>G (p.Met273Val) c.*613A>G (n.*613A>G) c.535A>G (p.Met179Val) c.*737A>G (n.*737A>G) c.775A>G (p.Met259Val) c.*602A>G (n.*602A>G) | gnomAD v4 |
| 8 | g.43122641A>T | CA371122734 | POMK | c.817A>T (p.Met273Leu) c.*613A>T (n.*613A>T) c.535A>T (p.Met179Leu) c.*737A>T (n.*737A>T) c.775A>T (p.Met259Leu) c.*602A>T (n.*602A>T) | ClinVar dbSNP |
| 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 |