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 |
|---|---|---|---|---|---|
| 20 | g.44413714C>A | CA510582592 | HNF4A | c.340C>A (p.Arg114=) c.406C>A (p.Arg136=) c.380C>A n.382C>A n.1530C>A c.*173C>A (n.*173C>A) c.331C>A (p.Arg111=) c.385C>A (p.Arg129=) c.523C>A (p.Arg175=) c.454C>A (p.Arg152=) | gnomAD v4 |
| 20 | g.44413714C= | CA2365761548 | HNF4A | c.340C= (p.Arg114=) c.406C= (p.Arg136=) c.380C= n.382C= n.1530C= c.*173C= (n.*173C=) c.331C= (p.Arg111=) c.385C= (p.Arg129=) c.523C= (p.Arg175=) c.454C= (p.Arg152=) | |
| 20 | g.44413714C>G | CA315408365 | HNF4A | c.340C>G (p.Arg114Gly) c.406C>G (p.Arg136Gly) c.380C>G n.382C>G n.1530C>G c.*173C>G (n.*173C>G) c.331C>G (p.Arg111Gly) c.385C>G (p.Arg129Gly) c.523C>G (p.Arg175Gly) c.454C>G (p.Arg152Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44413714C>T | CA120206 | HNF4A | c.340C>T (p.Arg114Trp) c.406C>T (p.Arg136Trp) c.380C>T n.382C>T n.1530C>T c.*173C>T (n.*173C>T) c.331C>T (p.Arg111Trp) c.385C>T (p.Arg129Trp) c.523C>T (p.Arg175Trp) c.454C>T (p.Arg152Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44413715G>A | CA9870228 | HNF4A | c.341G>A (p.Arg114Gln) c.407G>A (p.Arg136Gln) c.381G>A n.383G>A n.1531G>A c.*174G>A (n.*174G>A) c.332G>A (p.Arg111Gln) c.386G>A (p.Arg129Gln) c.524G>A (p.Arg175Gln) c.455G>A (p.Arg152Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44413715G>C | CA409105455 | HNF4A | c.341G>C (p.Arg114Pro) c.407G>C (p.Arg136Pro) c.381G>C n.383G>C n.1531G>C c.*174G>C (n.*174G>C) c.332G>C (p.Arg111Pro) c.386G>C (p.Arg129Pro) c.524G>C (p.Arg175Pro) c.455G>C (p.Arg152Pro) | |
| 20 | g.44413715G= | CA2365761549 | HNF4A | c.341G= (p.Arg114=) c.407G= (p.Arg136=) c.381G= n.383G= n.1531G= c.*174G= (n.*174G=) c.332G= (p.Arg111=) c.386G= (p.Arg129=) c.524G= (p.Arg175=) c.455G= (p.Arg152=) | |
| 20 | g.44413715G>T | CA409105458 | HNF4A | c.341G>T (p.Arg114Leu) c.407G>T (p.Arg136Leu) c.381G>T n.383G>T n.1531G>T c.*174G>T (n.*174G>T) c.332G>T (p.Arg111Leu) c.386G>T (p.Arg129Leu) c.524G>T (p.Arg175Leu) c.455G>T (p.Arg152Leu) | |
| 20 | g.44413716G>A | CA510582593 | HNF4A | c.342G>A (p.Arg114=) c.408G>A (p.Arg136=) c.382G>A n.384G>A n.1532G>A c.*175G>A (n.*175G>A) c.333G>A (p.Arg111=) c.387G>A (p.Arg129=) c.525G>A (p.Arg175=) c.456G>A (p.Arg152=) | COSMIC COSMIC COSMIC |
| 20 | g.44413716G>C | CA510582594 | HNF4A | c.342G>C (p.Arg114=) c.408G>C (p.Arg136=) c.382G>C n.384G>C n.1532G>C c.*175G>C (n.*175G>C) c.333G>C (p.Arg111=) c.387G>C (p.Arg129=) c.525G>C (p.Arg175=) c.456G>C (p.Arg152=) | |
| 20 | g.44413716G= | CA2365761550 | HNF4A | c.342G= (p.Arg114=) c.408G= (p.Arg136=) c.382G= n.384G= n.1532G= c.*175G= (n.*175G=) c.333G= (p.Arg111=) c.387G= (p.Arg129=) c.525G= (p.Arg175=) c.456G= (p.Arg152=) | |
| 20 | g.44413716G>T | CA9870229 | HNF4A | c.342G>T (p.Arg114=) c.408G>T (p.Arg136=) c.382G>T n.384G>T n.1532G>T c.*175G>T (n.*175G>T) c.333G>T (p.Arg111=) c.387G>T (p.Arg129=) c.525G>T (p.Arg175=) c.456G>T (p.Arg152=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44413717A>C | CA409105463 | HNF4A | c.343A>C (p.Ile115Leu) c.409A>C (p.Ile137Leu) c.383A>C n.385A>C n.1533A>C c.*176A>C (n.*176A>C) c.334A>C (p.Ile112Leu) c.388A>C (p.Ile130Leu) c.526A>C (p.Ile176Leu) c.457A>C (p.Ile153Leu) | |
| 20 | g.44413717A>G | CA409105466 | HNF4A | c.343A>G (p.Ile115Val) c.409A>G (p.Ile137Val) c.383A>G n.385A>G n.1533A>G c.*176A>G (n.*176A>G) c.334A>G (p.Ile112Val) c.388A>G (p.Ile130Val) c.526A>G (p.Ile176Val) c.457A>G (p.Ile153Val) | |
| 20 | g.44413717A>T | CA409105468 | HNF4A | c.343A>T (p.Ile115Phe) c.409A>T (p.Ile137Phe) c.383A>T n.385A>T n.1533A>T c.*176A>T (n.*176A>T) c.334A>T (p.Ile112Phe) c.388A>T (p.Ile130Phe) c.526A>T (p.Ile176Phe) c.457A>T (p.Ile153Phe) | |
| 20 | g.44413718T>A | CA409105471 | HNF4A | c.344T>A (p.Ile115Asn) c.410T>A (p.Ile137Asn) c.384T>A n.386T>A n.1534T>A c.*177T>A (n.*177T>A) c.335T>A (p.Ile112Asn) c.389T>A (p.Ile130Asn) c.527T>A (p.Ile176Asn) c.458T>A (p.Ile153Asn) | |
| 20 | g.44413718T>C | CA409105476 | HNF4A | c.344T>C (p.Ile115Thr) c.410T>C (p.Ile137Thr) c.384T>C n.386T>C n.1534T>C c.*177T>C (n.*177T>C) c.335T>C (p.Ile112Thr) c.389T>C (p.Ile130Thr) c.527T>C (p.Ile176Thr) c.458T>C (p.Ile153Thr) | |
| 20 | g.44413718T>G | CA409105473 | HNF4A | c.344T>G (p.Ile115Ser) c.410T>G (p.Ile137Ser) c.384T>G n.386T>G n.1534T>G c.*177T>G (n.*177T>G) c.335T>G (p.Ile112Ser) c.389T>G (p.Ile130Ser) c.527T>G (p.Ile176Ser) c.458T>G (p.Ile153Ser) | |
| 20 | g.44413719C>A | CA510582595 | HNF4A | c.345C>A (p.Ile115=) c.411C>A (p.Ile137=) c.385C>A n.387C>A n.1535C>A c.*178C>A (n.*178C>A) c.336C>A (p.Ile112=) c.390C>A (p.Ile130=) c.528C>A (p.Ile176=) c.459C>A (p.Ile153=) | |
| 20 | g.44413719C>G | CA409105480 | HNF4A | c.345C>G (p.Ile115Met) c.411C>G (p.Ile137Met) c.385C>G n.387C>G n.1535C>G c.*178C>G (n.*178C>G) c.336C>G (p.Ile112Met) c.390C>G (p.Ile130Met) c.528C>G (p.Ile176Met) c.459C>G (p.Ile153Met) | |
| 20 | g.44413719C>T | CA510582596 | HNF4A | c.345C>T (p.Ile115=) c.411C>T (p.Ile137=) c.385C>T n.387C>T n.1535C>T c.*178C>T (n.*178C>T) c.336C>T (p.Ile112=) c.390C>T (p.Ile130=) c.528C>T (p.Ile176=) c.459C>T (p.Ile153=) | |
| 20 | g.44413720A>C | CA409105482 | HNF4A | c.346A>C (p.Ser116Arg) c.412A>C (p.Ser138Arg) c.386A>C n.388A>C n.1536A>C c.*179A>C (n.*179A>C) c.337A>C (p.Ser113Arg) c.391A>C (p.Ser131Arg) c.529A>C (p.Ser177Arg) c.460A>C (p.Ser154Arg) | |
| 20 | g.44413720A>G | CA409105483 | HNF4A | c.346A>G (p.Ser116Gly) c.412A>G (p.Ser138Gly) c.386A>G n.388A>G n.1536A>G c.*179A>G (n.*179A>G) c.337A>G (p.Ser113Gly) c.391A>G (p.Ser131Gly) c.529A>G (p.Ser177Gly) c.460A>G (p.Ser154Gly) | |
| 20 | g.44413720A>T | CA409105486 | HNF4A | c.346A>T (p.Ser116Cys) c.412A>T (p.Ser138Cys) c.386A>T n.388A>T n.1536A>T c.*179A>T (n.*179A>T) c.337A>T (p.Ser113Cys) c.391A>T (p.Ser131Cys) c.529A>T (p.Ser177Cys) c.460A>T (p.Ser154Cys) | |
| 20 | g.44413721G>A | CA409105488 | HNF4A | c.347G>A (p.Ser116Asn) c.413G>A (p.Ser138Asn) c.387G>A n.389G>A n.1537G>A c.*180G>A (n.*180G>A) c.338G>A (p.Ser113Asn) c.392G>A (p.Ser131Asn) c.530G>A (p.Ser177Asn) c.461G>A (p.Ser154Asn) | gnomAD v4 |
| 20 | g.44413721G>C | CA9870230 | HNF4A | c.347G>C (p.Ser116Thr) c.413G>C (p.Ser138Thr) c.387G>C n.389G>C n.1537G>C c.*180G>C (n.*180G>C) c.338G>C (p.Ser113Thr) c.392G>C (p.Ser131Thr) c.530G>C (p.Ser177Thr) c.461G>C (p.Ser154Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44413721G= | CA2365761551 | HNF4A | c.347G= (p.Ser116=) c.413G= (p.Ser138=) c.387G= n.389G= n.1537G= c.*180G= (n.*180G=) c.338G= (p.Ser113=) c.392G= (p.Ser131=) c.530G= (p.Ser177=) c.461G= (p.Ser154=) | |
| 20 | g.44413721G>T | CA409105490 | HNF4A | c.347G>T (p.Ser116Ile) c.413G>T (p.Ser138Ile) c.387G>T n.389G>T n.1537G>T c.*180G>T (n.*180G>T) c.338G>T (p.Ser113Ile) c.392G>T (p.Ser131Ile) c.530G>T (p.Ser177Ile) c.461G>T (p.Ser154Ile) | |
| 20 | g.44413722C>A | CA409105495 | HNF4A | c.348C>A (p.Ser116Arg) c.414C>A (p.Ser138Arg) c.388C>A n.390C>A n.1538C>A c.*181C>A (n.*181C>A) c.339C>A (p.Ser113Arg) c.393C>A (p.Ser131Arg) c.531C>A (p.Ser177Arg) c.462C>A (p.Ser154Arg) | |
| 20 | g.44413722C>G | CA409105496 | HNF4A | c.348C>G (p.Ser116Arg) c.414C>G (p.Ser138Arg) c.388C>G n.390C>G n.1538C>G c.*181C>G (n.*181C>G) c.339C>G (p.Ser113Arg) c.393C>G (p.Ser131Arg) c.531C>G (p.Ser177Arg) c.462C>G (p.Ser154Arg) | |
| 20 | g.44413722C>T | CA510582597 | HNF4A | c.348C>T (p.Ser116=) c.414C>T (p.Ser138=) c.388C>T n.390C>T n.1538C>T c.*181C>T (n.*181C>T) c.339C>T (p.Ser113=) c.393C>T (p.Ser131=) c.531C>T (p.Ser177=) c.462C>T (p.Ser154=) | |
| 20 | g.44413723A= | CA2365761552 | HNF4A | c.349A= (p.Thr117=) c.415A= (p.Thr139=) c.389A= n.391A= n.1539A= c.*182A= (n.*182A=) c.340A= (p.Thr114=) c.394A= (p.Thr132=) c.532A= (p.Thr178=) c.463A= (p.Thr155=) | |
| 20 | g.44413723A>C | CA409105499 | HNF4A | c.349A>C (p.Thr117Pro) c.415A>C (p.Thr139Pro) c.389A>C n.391A>C n.1539A>C c.*182A>C (n.*182A>C) c.340A>C (p.Thr114Pro) c.394A>C (p.Thr132Pro) c.532A>C (p.Thr178Pro) c.463A>C (p.Thr155Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44413723A>G | CA9870231 | HNF4A | c.349A>G (p.Thr117Ala) c.415A>G (p.Thr139Ala) c.389A>G n.391A>G n.1539A>G c.*182A>G (n.*182A>G) c.340A>G (p.Thr114Ala) c.394A>G (p.Thr132Ala) c.532A>G (p.Thr178Ala) c.463A>G (p.Thr155Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44413723A>T | CA409105503 | HNF4A | c.349A>T (p.Thr117Ser) c.415A>T (p.Thr139Ser) c.389A>T n.391A>T n.1539A>T c.*182A>T (n.*182A>T) c.340A>T (p.Thr114Ser) c.394A>T (p.Thr132Ser) c.532A>T (p.Thr178Ser) c.463A>T (p.Thr155Ser) | |
| 20 | g.44413724C>A | CA409105504 | HNF4A | c.350C>A (p.Thr117Asn) c.416C>A (p.Thr139Asn) c.390C>A n.392C>A n.1540C>A c.*183C>A (n.*183C>A) c.341C>A (p.Thr114Asn) c.395C>A (p.Thr132Asn) c.533C>A (p.Thr178Asn) c.464C>A (p.Thr155Asn) | |
| 20 | g.44413724C= | CA2365761553 | HNF4A | c.350C= (p.Thr117=) c.416C= (p.Thr139=) c.390C= n.392C= n.1540C= c.*183C= (n.*183C=) c.341C= (p.Thr114=) c.395C= (p.Thr132=) c.533C= (p.Thr178=) c.464C= (p.Thr155=) | |
| 20 | g.44413724C>G | CA409105507 | HNF4A | c.350C>G (p.Thr117Ser) c.416C>G (p.Thr139Ser) c.390C>G n.392C>G n.1540C>G c.*183C>G (n.*183C>G) c.341C>G (p.Thr114Ser) c.395C>G (p.Thr132Ser) c.533C>G (p.Thr178Ser) c.464C>G (p.Thr155Ser) | |
| 20 | g.44413724C>T | CA153114 | HNF4A | c.350C>T (p.Thr117Ile) c.416C>T (p.Thr139Ile) c.390C>T n.392C>T n.1540C>T c.*183C>T (n.*183C>T) c.341C>T (p.Thr114Ile) c.395C>T (p.Thr132Ile) c.533C>T (p.Thr178Ile) c.464C>T (p.Thr155Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44413725T>A | CA510582598 | HNF4A | c.351T>A (p.Thr117=) c.417T>A (p.Thr139=) c.391T>A n.393T>A n.1541T>A c.*184T>A (n.*184T>A) c.342T>A (p.Thr114=) c.396T>A (p.Thr132=) c.534T>A (p.Thr178=) c.465T>A (p.Thr155=) | |
| 20 | g.44413725T>C | CA510582599 | HNF4A | c.351T>C (p.Thr117=) c.417T>C (p.Thr139=) c.391T>C n.393T>C n.1541T>C c.*184T>C (n.*184T>C) c.342T>C (p.Thr114=) c.396T>C (p.Thr132=) c.534T>C (p.Thr178=) c.465T>C (p.Thr155=) | |
| 20 | g.44413725T>G | CA510582600 | HNF4A | c.351T>G (p.Thr117=) c.417T>G (p.Thr139=) c.391T>G n.393T>G n.1541T>G c.*184T>G (n.*184T>G) c.342T>G (p.Thr114=) c.396T>G (p.Thr132=) c.534T>G (p.Thr178=) c.465T>G (p.Thr155=) | |
| 20 | g.44413726C>A | CA510582601 | HNF4A | c.352C>A (p.Arg118=) c.418C>A (p.Arg140=) c.392C>A n.394C>A n.1542C>A c.*185C>A (n.*185C>A) c.343C>A (p.Arg115=) c.397C>A (p.Arg133=) c.535C>A (p.Arg179=) c.466C>A (p.Arg156=) | gnomAD v4 |
| 20 | g.44413726C>G | CA409105509 | HNF4A | c.352C>G (p.Arg118Gly) c.418C>G (p.Arg140Gly) c.392C>G n.394C>G n.1542C>G c.*185C>G (n.*185C>G) c.343C>G (p.Arg115Gly) c.397C>G (p.Arg133Gly) c.535C>G (p.Arg179Gly) c.466C>G (p.Arg156Gly) | |
| 20 | g.44413726C>T | CA409105512 | HNF4A | c.352C>T (p.Arg118Ter) c.418C>T (p.Arg140Ter) c.392C>T n.394C>T n.1542C>T c.*185C>T (n.*185C>T) c.343C>T (p.Arg115Ter) c.397C>T (p.Arg133Ter) c.535C>T (p.Arg179Ter) c.466C>T (p.Arg156Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 20 | g.44413727G>A | CA9870232 | HNF4A | c.353G>A (p.Arg118Gln) c.419G>A (p.Arg140Gln) c.393G>A n.395G>A n.1543G>A c.*186G>A (n.*186G>A) c.344G>A (p.Arg115Gln) c.398G>A (p.Arg133Gln) c.536G>A (p.Arg179Gln) c.467G>A (p.Arg156Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44413727G>C | CA409105514 | HNF4A | c.353G>C (p.Arg118Pro) c.419G>C (p.Arg140Pro) c.393G>C n.395G>C n.1543G>C c.*186G>C (n.*186G>C) c.344G>C (p.Arg115Pro) c.398G>C (p.Arg133Pro) c.536G>C (p.Arg179Pro) c.467G>C (p.Arg156Pro) | gnomAD v4 |
| 20 | g.44413727G= | CA2365761554 | HNF4A | c.353G= (p.Arg118=) c.419G= (p.Arg140=) c.393G= n.395G= n.1543G= c.*186G= (n.*186G=) c.344G= (p.Arg115=) c.398G= (p.Arg133=) c.536G= (p.Arg179=) c.467G= (p.Arg156=) | |
| 20 | g.44413727G>T | CA409105517 | HNF4A | c.353G>T (p.Arg118Leu) c.419G>T (p.Arg140Leu) c.393G>T n.395G>T n.1543G>T c.*186G>T (n.*186G>T) c.344G>T (p.Arg115Leu) c.398G>T (p.Arg133Leu) c.536G>T (p.Arg179Leu) c.467G>T (p.Arg156Leu) | gnomAD v4 |
| 20 | g.44413728A>C | CA510582602 | HNF4A | c.354A>C (p.Arg118=) c.420A>C (p.Arg140=) c.394A>C n.396A>C n.1544A>C c.*187A>C (n.*187A>C) c.345A>C (p.Arg115=) c.399A>C (p.Arg133=) c.537A>C (p.Arg179=) c.468A>C (p.Arg156=) |