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 |
|---|---|---|---|---|---|
| 20 | g.44424042_44424043del | CA2695229798 | HNF4A | c.851_852del (p.Gly284GlufsTer23) c.917_918del (p.Gly306GlufsTer23) c.891_892del c.*684_*685del (n.*684_*685del) c.842_843del (p.Gly281GlufsTer23) c.896_897del (p.Gly299GlufsTer23) c.1034_1035del (p.Gly345GlufsTer23) c.965_966del (p.Gly322GlufsTer23) | |
| 20 | g.44424041_44424051delinsCCT | CA2695229799 | HNF4A | c.850_860delinsCCT (p.Gly284ProfsTer21) c.916_926delinsCCT (p.Gly306ProfsTer21) c.890_900delinsCCT c.*683_*693delinsCCT (n.*683_*693delinsCCT) c.841_851delinsCCT (p.Gly281ProfsTer21) c.895_905delinsCCT (p.Gly299ProfsTer21) c.1033_1043delinsCCT (p.Gly345ProfsTer21) c.964_974delinsCCT (p.Gly322ProfsTer21) | |
| 20 | g.44424043G>A | CA510582928 | HNF4A | c.852G>A (p.Gly284=) c.918G>A (p.Gly306=) c.892G>A c.*685G>A (n.*685G>A) c.843G>A (p.Gly281=) c.897G>A (p.Gly299=) c.1035G>A (p.Gly345=) c.966G>A (p.Gly322=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44424043G>C | CA510582929 | HNF4A | c.852G>C (p.Gly284=) c.918G>C (p.Gly306=) c.892G>C c.*685G>C (n.*685G>C) c.843G>C (p.Gly281=) c.897G>C (p.Gly299=) c.1035G>C (p.Gly345=) c.966G>C (p.Gly322=) | |
| 20 | g.44424043G= | CA2365766372 | HNF4A | c.852G= (p.Gly284=) c.918G= (p.Gly306=) c.892G= c.*685G= (n.*685G=) c.843G= (p.Gly281=) c.897G= (p.Gly299=) c.1035G= (p.Gly345=) c.966G= (p.Gly322=) | |
| 20 | g.44424043G>T | CA510582930 | HNF4A | c.852G>T (p.Gly284=) c.918G>T (p.Gly306=) c.892G>T c.*685G>T (n.*685G>T) c.843G>T (p.Gly281=) c.897G>T (p.Gly299=) c.1035G>T (p.Gly345=) c.966G>T (p.Gly322=) | |
| 20 | g.44424044A>C | CA409108042 | HNF4A | c.853A>C (p.Lys285Gln) c.919A>C (p.Lys307Gln) c.893A>C c.*686A>C (n.*686A>C) c.844A>C (p.Lys282Gln) c.898A>C (p.Lys300Gln) c.1036A>C (p.Lys346Gln) c.967A>C (p.Lys323Gln) | |
| 20 | g.44424044A>G | CA409108041 | HNF4A | c.853A>G (p.Lys285Glu) c.919A>G (p.Lys307Glu) c.893A>G c.*686A>G (n.*686A>G) c.844A>G (p.Lys282Glu) c.898A>G (p.Lys300Glu) c.1036A>G (p.Lys346Glu) c.967A>G (p.Lys323Glu) | |
| 20 | g.44424044A>T | CA409108040 | HNF4A | c.853A>T (p.Lys285Ter) c.919A>T (p.Lys307Ter) c.893A>T c.*686A>T (n.*686A>T) c.844A>T (p.Lys282Ter) c.898A>T (p.Lys300Ter) c.1036A>T (p.Lys346Ter) c.967A>T (p.Lys323Ter) | |
| 20 | g.44424045A>C | CA409108043 | HNF4A | c.854A>C (p.Lys285Thr) c.920A>C (p.Lys307Thr) c.894A>C c.*687A>C (n.*687A>C) c.845A>C (p.Lys282Thr) c.899A>C (p.Lys300Thr) c.1037A>C (p.Lys346Thr) c.968A>C (p.Lys323Thr) | |
| 20 | g.44424045A>G | CA409108045 | HNF4A | c.854A>G (p.Lys285Arg) c.920A>G (p.Lys307Arg) c.894A>G c.*687A>G (n.*687A>G) c.845A>G (p.Lys282Arg) c.899A>G (p.Lys300Arg) c.1037A>G (p.Lys346Arg) c.968A>G (p.Lys323Arg) | |
| 20 | g.44424045A>T | CA409108044 | HNF4A | c.854A>T (p.Lys285Met) c.920A>T (p.Lys307Met) c.894A>T c.*687A>T (n.*687A>T) c.845A>T (p.Lys282Met) c.899A>T (p.Lys300Met) c.1037A>T (p.Lys346Met) c.968A>T (p.Lys323Met) | |
| 20 | g.44424046G>A | CA510582931 | HNF4A | c.855G>A (p.Lys285=) c.921G>A (p.Lys307=) c.895G>A c.*688G>A (n.*688G>A) c.846G>A (p.Lys282=) c.900G>A (p.Lys300=) c.1038G>A (p.Lys346=) c.969G>A (p.Lys323=) | |
| 20 | g.44424046G>C | CA409108046 | HNF4A | c.855G>C (p.Lys285Asn) c.921G>C (p.Lys307Asn) c.895G>C c.*688G>C (n.*688G>C) c.846G>C (p.Lys282Asn) c.900G>C (p.Lys300Asn) c.1038G>C (p.Lys346Asn) c.969G>C (p.Lys323Asn) | |
| 20 | g.44424046G= | CA2365766373 | HNF4A | c.855G= (p.Lys285=) c.921G= (p.Lys307=) c.895G= c.*688G= (n.*688G=) c.846G= (p.Lys282=) c.900G= (p.Lys300=) c.1038G= (p.Lys346=) c.969G= (p.Lys323=) | |
| 20 | g.44424046G>T | CA409108047 | HNF4A | c.855G>T (p.Lys285Asn) c.921G>T (p.Lys307Asn) c.895G>T c.*688G>T (n.*688G>T) c.846G>T (p.Lys282Asn) c.900G>T (p.Lys300Asn) c.1038G>T (p.Lys346Asn) c.969G>T (p.Lys323Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.44424047A>C | CA409108048 | HNF4A | c.856A>C (p.Ile286Leu) c.922A>C (p.Ile308Leu) c.896A>C c.*689A>C (n.*689A>C) c.847A>C (p.Ile283Leu) c.901A>C (p.Ile301Leu) c.1039A>C (p.Ile347Leu) c.970A>C (p.Ile324Leu) | |
| 20 | g.44424047A>G | CA409108049 | HNF4A | c.856A>G (p.Ile286Val) c.922A>G (p.Ile308Val) c.896A>G c.*689A>G (n.*689A>G) c.847A>G (p.Ile283Val) c.901A>G (p.Ile301Val) c.1039A>G (p.Ile347Val) c.970A>G (p.Ile324Val) | |
| 20 | g.44424047A>T | CA409108050 | HNF4A | c.856A>T (p.Ile286Phe) c.922A>T (p.Ile308Phe) c.896A>T c.*689A>T (n.*689A>T) c.847A>T (p.Ile283Phe) c.901A>T (p.Ile301Phe) c.1039A>T (p.Ile347Phe) c.970A>T (p.Ile324Phe) | |
| 20 | g.44424048T>A | CA409108051 | HNF4A | c.857T>A (p.Ile286Asn) c.923T>A (p.Ile308Asn) c.897T>A c.*690T>A (n.*690T>A) c.848T>A (p.Ile283Asn) c.902T>A (p.Ile301Asn) c.1040T>A (p.Ile347Asn) c.971T>A (p.Ile324Asn) | |
| 20 | g.44424048T>C | CA409108052 | HNF4A | c.857T>C (p.Ile286Thr) c.923T>C (p.Ile308Thr) c.897T>C c.*690T>C (n.*690T>C) c.848T>C (p.Ile283Thr) c.902T>C (p.Ile301Thr) c.1040T>C (p.Ile347Thr) c.971T>C (p.Ile324Thr) | dbSNP |
| 20 | g.44424048T>G | CA409108053 | HNF4A | c.857T>G (p.Ile286Ser) c.923T>G (p.Ile308Ser) c.897T>G c.*690T>G (n.*690T>G) c.848T>G (p.Ile283Ser) c.902T>G (p.Ile301Ser) c.1040T>G (p.Ile347Ser) c.971T>G (p.Ile324Ser) | ClinVar |
| 20 | g.44424049C>A | CA510582932 | HNF4A | c.858C>A (p.Ile286=) c.924C>A (p.Ile308=) c.898C>A c.*691C>A (n.*691C>A) c.849C>A (p.Ile283=) c.903C>A (p.Ile301=) c.1041C>A (p.Ile347=) c.972C>A (p.Ile324=) | |
| 20 | g.44424049C= | CA2365766374 | HNF4A | c.858C= (p.Ile286=) c.924C= (p.Ile308=) c.898C= c.*691C= (n.*691C=) c.849C= (p.Ile283=) c.903C= (p.Ile301=) c.1041C= (p.Ile347=) c.972C= (p.Ile324=) | |
| 20 | g.44424049C>G | CA9870394 | HNF4A | c.858C>G (p.Ile286Met) c.924C>G (p.Ile308Met) c.898C>G c.*691C>G (n.*691C>G) c.849C>G (p.Ile283Met) c.903C>G (p.Ile301Met) c.1041C>G (p.Ile347Met) c.972C>G (p.Ile324Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44424049C>T | CA510582933 | HNF4A | c.858C>T (p.Ile286=) c.924C>T (p.Ile308=) c.898C>T c.*691C>T (n.*691C>T) c.849C>T (p.Ile283=) c.903C>T (p.Ile301=) c.1041C>T (p.Ile347=) c.972C>T (p.Ile324=) | |
| 20 | g.44424050A>C | CA409108054 | HNF4A | c.859A>C (p.Lys287Gln) c.925A>C (p.Lys309Gln) c.899A>C c.*692A>C (n.*692A>C) c.850A>C (p.Lys284Gln) c.904A>C (p.Lys302Gln) c.1042A>C (p.Lys348Gln) c.973A>C (p.Lys325Gln) | |
| 20 | g.44424050A>G | CA409108055 | HNF4A | c.859A>G (p.Lys287Glu) c.925A>G (p.Lys309Glu) c.899A>G c.*692A>G (n.*692A>G) c.850A>G (p.Lys284Glu) c.904A>G (p.Lys302Glu) c.1042A>G (p.Lys348Glu) c.973A>G (p.Lys325Glu) | |
| 20 | g.44424050A>T | CA409108056 | HNF4A | c.859A>T (p.Lys287Ter) c.925A>T (p.Lys309Ter) c.899A>T c.*692A>T (n.*692A>T) c.850A>T (p.Lys284Ter) c.904A>T (p.Lys302Ter) c.1042A>T (p.Lys348Ter) c.973A>T (p.Lys325Ter) | |
| 20 | g.44424051A>C | CA409108057 | HNF4A | c.860A>C (p.Lys287Thr) c.926A>C (p.Lys309Thr) c.900A>C c.*693A>C (n.*693A>C) c.851A>C (p.Lys284Thr) c.905A>C (p.Lys302Thr) c.1043A>C (p.Lys348Thr) c.974A>C (p.Lys325Thr) | |
| 20 | g.44424051A>G | CA409108058 | HNF4A | c.860A>G (p.Lys287Arg) c.926A>G (p.Lys309Arg) c.900A>G c.*693A>G (n.*693A>G) c.851A>G (p.Lys284Arg) c.905A>G (p.Lys302Arg) c.1043A>G (p.Lys348Arg) c.974A>G (p.Lys325Arg) | dbSNP |
| 20 | g.44424051A>T | CA409108059 | HNF4A | c.860A>T (p.Lys287Met) c.926A>T (p.Lys309Met) c.900A>T c.*693A>T (n.*693A>T) c.851A>T (p.Lys284Met) c.905A>T (p.Lys302Met) c.1043A>T (p.Lys348Met) c.974A>T (p.Lys325Met) | |
| 20 | g.44424052G>A | CA510582934 | HNF4A | c.861G>A (p.Lys287=) c.927G>A (p.Lys309=) c.901G>A c.*694G>A (n.*694G>A) c.852G>A (p.Lys284=) c.906G>A (p.Lys302=) c.1044G>A (p.Lys348=) c.975G>A (p.Lys325=) | |
| 20 | g.44424052G>C | CA409108060 | HNF4A | c.861G>C (p.Lys287Asn) c.927G>C (p.Lys309Asn) c.901G>C c.*694G>C (n.*694G>C) c.852G>C (p.Lys284Asn) c.906G>C (p.Lys302Asn) c.1044G>C (p.Lys348Asn) c.975G>C (p.Lys325Asn) | |
| 20 | g.44424052G>T | CA409108061 | HNF4A | c.861G>T (p.Lys287Asn) c.927G>T (p.Lys309Asn) c.901G>T c.*694G>T (n.*694G>T) c.852G>T (p.Lys284Asn) c.906G>T (p.Lys302Asn) c.1044G>T (p.Lys348Asn) c.975G>T (p.Lys325Asn) | |
| 20 | g.44424053C>A | CA510582935 | HNF4A | c.862C>A (p.Arg288=) c.928C>A (p.Arg310=) c.902C>A c.*695C>A (n.*695C>A) c.853C>A (p.Arg285=) c.907C>A (p.Arg303=) c.1045C>A (p.Arg349=) c.976C>A (p.Arg326=) | dbSNP |
| 20 | g.44424053C= | CA2365766375 | HNF4A | c.862C= (p.Arg288=) c.928C= (p.Arg310=) c.902C= c.*695C= (n.*695C=) c.853C= (p.Arg285=) c.907C= (p.Arg303=) c.1045C= (p.Arg349=) c.976C= (p.Arg326=) | |
| 20 | g.44424053C>G | CA409108062 | HNF4A | c.862C>G (p.Arg288Gly) c.928C>G (p.Arg310Gly) c.902C>G c.*695C>G (n.*695C>G) c.853C>G (p.Arg285Gly) c.907C>G (p.Arg303Gly) c.1045C>G (p.Arg349Gly) c.976C>G (p.Arg326Gly) | |
| 20 | g.44424053C>T | CA9870395 | HNF4A | c.862C>T (p.Arg288Trp) c.928C>T (p.Arg310Trp) c.902C>T c.*695C>T (n.*695C>T) c.853C>T (p.Arg285Trp) c.907C>T (p.Arg303Trp) c.1045C>T (p.Arg349Trp) c.976C>T (p.Arg326Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44424054G>A | CA9870396 | HNF4A | c.863G>A (p.Arg288Gln) c.929G>A (p.Arg310Gln) c.903G>A c.*696G>A (n.*696G>A) c.854G>A (p.Arg285Gln) c.908G>A (p.Arg303Gln) c.1046G>A (p.Arg349Gln) c.977G>A (p.Arg326Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44424054G>C | CA409108063 | HNF4A | c.863G>C (p.Arg288Pro) c.929G>C (p.Arg310Pro) c.903G>C c.*696G>C (n.*696G>C) c.854G>C (p.Arg285Pro) c.908G>C (p.Arg303Pro) c.1046G>C (p.Arg349Pro) c.977G>C (p.Arg326Pro) | |
| 20 | g.44424054G= | CA2365766376 | HNF4A | c.863G= (p.Arg288=) c.929G= (p.Arg310=) c.903G= c.*696G= (n.*696G=) c.854G= (p.Arg285=) c.908G= (p.Arg303=) c.1046G= (p.Arg349=) c.977G= (p.Arg326=) | |
| 20 | g.44424054G>T | CA9870397 | HNF4A | c.863G>T (p.Arg288Leu) c.929G>T (p.Arg310Leu) c.903G>T c.*696G>T (n.*696G>T) c.854G>T (p.Arg285Leu) c.908G>T (p.Arg303Leu) c.1046G>T (p.Arg349Leu) c.977G>T (p.Arg326Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44424055G>A | CA510582936 | HNF4A | c.864G>A (p.Arg288=) c.930G>A (p.Arg310=) c.904G>A c.*697G>A (n.*697G>A) c.855G>A (p.Arg285=) c.909G>A (p.Arg303=) c.1047G>A (p.Arg349=) c.978G>A (p.Arg326=) | |
| 20 | g.44424055G>C | CA510582937 | HNF4A | c.864G>C (p.Arg288=) c.930G>C (p.Arg310=) c.904G>C c.*697G>C (n.*697G>C) c.855G>C (p.Arg285=) c.909G>C (p.Arg303=) c.1047G>C (p.Arg349=) c.978G>C (p.Arg326=) | gnomAD v4 |
| 20 | g.44424055G>T | CA510582938 | HNF4A | c.864G>T (p.Arg288=) c.930G>T (p.Arg310=) c.904G>T c.*697G>T (n.*697G>T) c.855G>T (p.Arg285=) c.909G>T (p.Arg303=) c.1047G>T (p.Arg349=) c.978G>T (p.Arg326=) | |
| 20 | g.44424056C>A | CA409108064 | HNF4A | c.865C>A (p.Leu289Met) c.931C>A (p.Leu311Met) c.905C>A c.*698C>A (n.*698C>A) c.856C>A (p.Leu286Met) c.910C>A (p.Leu304Met) c.1048C>A (p.Leu350Met) c.979C>A (p.Leu327Met) | |
| 20 | g.44424056C= | CA2365766377 | HNF4A | c.865C= (p.Leu289=) c.931C= (p.Leu311=) c.905C= c.*698C= (n.*698C=) c.856C= (p.Leu286=) c.910C= (p.Leu304=) c.1048C= (p.Leu350=) c.979C= (p.Leu327=) | |
| 20 | g.44424056C>G | CA409108065 | HNF4A | c.865C>G (p.Leu289Val) c.931C>G (p.Leu311Val) c.905C>G c.*698C>G (n.*698C>G) c.856C>G (p.Leu286Val) c.910C>G (p.Leu304Val) c.1048C>G (p.Leu350Val) c.979C>G (p.Leu327Val) | |
| 20 | g.44424056C>T | CA9870398 | HNF4A | c.865C>T (p.Leu289=) c.931C>T (p.Leu311=) c.905C>T c.*698C>T (n.*698C>T) c.856C>T (p.Leu286=) c.910C>T (p.Leu304=) c.1048C>T (p.Leu350=) c.979C>T (p.Leu327=) | dbSNP ExAC gnomAD v2 gnomAD v4 |