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.44413695C>A | CA510582581 | HNF4A | c.321C>A (p.Ala107=) c.387C>A (p.Ala129=) c.361C>A n.363C>A n.1511C>A c.*154C>A (n.*154C>A) c.312C>A (p.Ala104=) c.366C>A (p.Ala122=) c.504C>A (p.Ala168=) c.435C>A (p.Ala145=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44413695C= | CA2365761544 | HNF4A | c.321C= (p.Ala107=) c.387C= (p.Ala129=) c.361C= n.363C= n.1511C= c.*154C= (n.*154C=) c.312C= (p.Ala104=) c.366C= (p.Ala122=) c.504C= (p.Ala168=) c.435C= (p.Ala145=) | |
| 20 | g.44413695C>G | CA510582580 | HNF4A | c.321C>G (p.Ala107=) c.387C>G (p.Ala129=) c.361C>G n.363C>G n.1511C>G c.*154C>G (n.*154C>G) c.312C>G (p.Ala104=) c.366C>G (p.Ala122=) c.504C>G (p.Ala168=) c.435C>G (p.Ala145=) | gnomAD v4 |
| 20 | g.44413695C>T | CA9870224 | HNF4A | c.321C>T (p.Ala107=) c.387C>T (p.Ala129=) c.361C>T n.363C>T n.1511C>T c.*154C>T (n.*154C>T) c.312C>T (p.Ala104=) c.366C>T (p.Ala122=) c.504C>T (p.Ala168=) c.435C>T (p.Ala145=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 20 | g.44413696G>A | CA9870225 | HNF4A | c.322G>A (p.Val108Ile) c.388G>A (p.Val130Ile) c.362G>A n.364G>A n.1512G>A c.*155G>A (n.*155G>A) c.313G>A (p.Val105Ile) c.367G>A (p.Val123Ile) c.505G>A (p.Val169Ile) c.436G>A (p.Val146Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44413696G>C | CA409105362 | HNF4A | c.322G>C (p.Val108Leu) c.388G>C (p.Val130Leu) c.362G>C n.364G>C n.1512G>C c.*155G>C (n.*155G>C) c.313G>C (p.Val105Leu) c.367G>C (p.Val123Leu) c.505G>C (p.Val169Leu) c.436G>C (p.Val146Leu) | COSMIC COSMIC |
| 20 | g.44413696G= | CA2365761545 | HNF4A | c.322G= (p.Val108=) c.388G= (p.Val130=) c.362G= n.364G= n.1512G= c.*155G= (n.*155G=) c.313G= (p.Val105=) c.367G= (p.Val123=) c.505G= (p.Val169=) c.436G= (p.Val146=) | |
| 20 | g.44413696G>T | CA409105364 | HNF4A | c.322G>T (p.Val108Phe) c.388G>T (p.Val130Phe) c.362G>T n.364G>T n.1512G>T c.*155G>T (n.*155G>T) c.313G>T (p.Val105Phe) c.367G>T (p.Val123Phe) c.505G>T (p.Val169Phe) c.436G>T (p.Val146Phe) | dbSNP |
| 20 | g.44413697T>A | CA409105366 | HNF4A | c.323T>A (p.Val108Asp) c.389T>A (p.Val130Asp) c.363T>A n.365T>A n.1513T>A c.*156T>A (n.*156T>A) c.314T>A (p.Val105Asp) c.368T>A (p.Val123Asp) c.506T>A (p.Val169Asp) c.437T>A (p.Val146Asp) | |
| 20 | g.44413697T>C | CA409105369 | HNF4A | c.323T>C (p.Val108Ala) c.389T>C (p.Val130Ala) c.363T>C n.365T>C n.1513T>C c.*156T>C (n.*156T>C) c.314T>C (p.Val105Ala) c.368T>C (p.Val123Ala) c.506T>C (p.Val169Ala) c.437T>C (p.Val146Ala) | |
| 20 | g.44413697T>G | CA409105370 | HNF4A | c.323T>G (p.Val108Gly) c.389T>G (p.Val130Gly) c.363T>G n.365T>G n.1513T>G c.*156T>G (n.*156T>G) c.314T>G (p.Val105Gly) c.368T>G (p.Val123Gly) c.506T>G (p.Val169Gly) c.437T>G (p.Val146Gly) | |
| 20 | g.44413698C>A | CA510582582 | HNF4A | c.324C>A (p.Val108=) c.390C>A (p.Val130=) c.364C>A n.366C>A n.1514C>A c.*157C>A (n.*157C>A) c.315C>A (p.Val105=) c.369C>A (p.Val123=) c.507C>A (p.Val169=) c.438C>A (p.Val146=) | |
| 20 | g.44413698C>G | CA510582583 | HNF4A | c.324C>G (p.Val108=) c.390C>G (p.Val130=) c.364C>G n.366C>G n.1514C>G c.*157C>G (n.*157C>G) c.315C>G (p.Val105=) c.369C>G (p.Val123=) c.507C>G (p.Val169=) c.438C>G (p.Val146=) | |
| 20 | g.44413698C>T | CA510582584 | HNF4A | c.324C>T (p.Val108=) c.390C>T (p.Val130=) c.364C>T n.366C>T n.1514C>T c.*157C>T (n.*157C>T) c.315C>T (p.Val105=) c.369C>T (p.Val123=) c.507C>T (p.Val169=) c.438C>T (p.Val146=) | |
| 20 | g.44413699C>A | CA409105373 | HNF4A | c.325C>A (p.Gln109Lys) c.391C>A (p.Gln131Lys) c.365C>A n.367C>A n.1515C>A c.*158C>A (n.*158C>A) c.316C>A (p.Gln106Lys) c.370C>A (p.Gln124Lys) c.508C>A (p.Gln170Lys) c.439C>A (p.Gln147Lys) | |
| 20 | g.44413699C>G | CA409105376 | HNF4A | c.325C>G (p.Gln109Glu) c.391C>G (p.Gln131Glu) c.365C>G n.367C>G n.1515C>G c.*158C>G (n.*158C>G) c.316C>G (p.Gln106Glu) c.370C>G (p.Gln124Glu) c.508C>G (p.Gln170Glu) c.439C>G (p.Gln147Glu) | |
| 20 | g.44413699C>T | CA409105381 | HNF4A | c.325C>T (p.Gln109Ter) c.391C>T (p.Gln131Ter) c.365C>T n.367C>T n.1515C>T c.*158C>T (n.*158C>T) c.316C>T (p.Gln106Ter) c.370C>T (p.Gln124Ter) c.508C>T (p.Gln170Ter) c.439C>T (p.Gln147Ter) | ClinVar dbSNP |
| 20 | g.44413700A>C | CA409105384 | HNF4A | c.326A>C (p.Gln109Pro) c.392A>C (p.Gln131Pro) c.366A>C n.368A>C n.1516A>C c.*159A>C (n.*159A>C) c.317A>C (p.Gln106Pro) c.371A>C (p.Gln124Pro) c.509A>C (p.Gln170Pro) c.440A>C (p.Gln147Pro) | |
| 20 | g.44413700A>G | CA409105386 | HNF4A | c.326A>G (p.Gln109Arg) c.392A>G (p.Gln131Arg) c.366A>G n.368A>G n.1516A>G c.*159A>G (n.*159A>G) c.317A>G (p.Gln106Arg) c.371A>G (p.Gln124Arg) c.509A>G (p.Gln170Arg) c.440A>G (p.Gln147Arg) | |
| 20 | g.44413700A>T | CA409105387 | HNF4A | c.326A>T (p.Gln109Leu) c.392A>T (p.Gln131Leu) c.366A>T n.368A>T n.1516A>T c.*159A>T (n.*159A>T) c.317A>T (p.Gln106Leu) c.371A>T (p.Gln124Leu) c.509A>T (p.Gln170Leu) c.440A>T (p.Gln147Leu) | |
| 20 | g.44413701G>A | CA510582585 | HNF4A | c.327G>A (p.Gln109=) c.393G>A (p.Gln131=) c.367G>A n.369G>A n.1517G>A c.*160G>A (n.*160G>A) c.318G>A (p.Gln106=) c.372G>A (p.Gln124=) c.510G>A (p.Gln170=) c.441G>A (p.Gln147=) | dbSNP gnomAD v4 |
| 20 | g.44413701G>C | CA409105391 | HNF4A | c.327G>C (p.Gln109His) c.393G>C (p.Gln131His) c.367G>C n.369G>C n.1517G>C c.*160G>C (n.*160G>C) c.318G>C (p.Gln106His) c.372G>C (p.Gln124His) c.510G>C (p.Gln170His) c.441G>C (p.Gln147His) | |
| 20 | g.44413701G>T | CA409105390 | HNF4A | c.327G>T (p.Gln109His) c.393G>T (p.Gln131His) c.367G>T n.369G>T n.1517G>T c.*160G>T (n.*160G>T) c.318G>T (p.Gln106His) c.372G>T (p.Gln124His) c.510G>T (p.Gln170His) c.441G>T (p.Gln147His) | |
| 20 | g.44413702A>C | CA409105393 | HNF4A | c.328A>C (p.Asn110His) c.394A>C (p.Asn132His) c.368A>C n.370A>C n.1518A>C c.*161A>C (n.*161A>C) c.319A>C (p.Asn107His) c.373A>C (p.Asn125His) c.511A>C (p.Asn171His) c.442A>C (p.Asn148His) | |
| 20 | g.44413702A>G | CA409105395 | HNF4A | c.328A>G (p.Asn110Asp) c.394A>G (p.Asn132Asp) c.368A>G n.370A>G n.1518A>G c.*161A>G (n.*161A>G) c.319A>G (p.Asn107Asp) c.373A>G (p.Asn125Asp) c.511A>G (p.Asn171Asp) c.442A>G (p.Asn148Asp) | |
| 20 | g.44413702A>T | CA409105396 | HNF4A | c.328A>T (p.Asn110Tyr) c.394A>T (p.Asn132Tyr) c.368A>T n.370A>T n.1518A>T c.*161A>T (n.*161A>T) c.319A>T (p.Asn107Tyr) c.373A>T (p.Asn125Tyr) c.511A>T (p.Asn171Tyr) c.442A>T (p.Asn148Tyr) | |
| 20 | g.44413703A>C | CA409105398 | HNF4A | c.329A>C (p.Asn110Thr) c.395A>C (p.Asn132Thr) c.369A>C n.371A>C n.1519A>C c.*162A>C (n.*162A>C) c.320A>C (p.Asn107Thr) c.374A>C (p.Asn125Thr) c.512A>C (p.Asn171Thr) c.443A>C (p.Asn148Thr) | |
| 20 | g.44413703A>G | CA409105401 | HNF4A | c.329A>G (p.Asn110Ser) c.395A>G (p.Asn132Ser) c.369A>G n.371A>G n.1519A>G c.*162A>G (n.*162A>G) c.320A>G (p.Asn107Ser) c.374A>G (p.Asn125Ser) c.512A>G (p.Asn171Ser) c.443A>G (p.Asn148Ser) | |
| 20 | g.44413703A>T | CA409105402 | HNF4A | c.329A>T (p.Asn110Ile) c.395A>T (p.Asn132Ile) c.369A>T n.371A>T n.1519A>T c.*162A>T (n.*162A>T) c.320A>T (p.Asn107Ile) c.374A>T (p.Asn125Ile) c.512A>T (p.Asn171Ile) c.443A>T (p.Asn148Ile) | |
| 20 | g.44413704T>A | CA409105404 | HNF4A | c.330T>A (p.Asn110Lys) c.396T>A (p.Asn132Lys) c.370T>A n.372T>A n.1520T>A c.*163T>A (n.*163T>A) c.321T>A (p.Asn107Lys) c.375T>A (p.Asn125Lys) c.513T>A (p.Asn171Lys) c.444T>A (p.Asn148Lys) | |
| 20 | g.44413704T>C | CA510582586 | HNF4A | c.330T>C (p.Asn110=) c.396T>C (p.Asn132=) c.370T>C n.372T>C n.1520T>C c.*163T>C (n.*163T>C) c.321T>C (p.Asn107=) c.375T>C (p.Asn125=) c.513T>C (p.Asn171=) c.444T>C (p.Asn148=) | |
| 20 | g.44413704T>G | CA409105406 | HNF4A | c.330T>G (p.Asn110Lys) c.396T>G (p.Asn132Lys) c.370T>G n.372T>G n.1520T>G c.*163T>G (n.*163T>G) c.321T>G (p.Asn107Lys) c.375T>G (p.Asn125Lys) c.513T>G (p.Asn171Lys) c.444T>G (p.Asn148Lys) | |
| 20 | g.44413705G>A | CA409105410 | HNF4A | c.331G>A (p.Glu111Lys) c.397G>A (p.Glu133Lys) c.371G>A n.373G>A n.1521G>A c.*164G>A (n.*164G>A) c.322G>A (p.Glu108Lys) c.376G>A (p.Glu126Lys) c.514G>A (p.Glu172Lys) c.445G>A (p.Glu149Lys) | |
| 20 | g.44413705G>C | CA409105411 | HNF4A | c.331G>C (p.Glu111Gln) c.397G>C (p.Glu133Gln) c.371G>C n.373G>C n.1521G>C c.*164G>C (n.*164G>C) c.322G>C (p.Glu108Gln) c.376G>C (p.Glu126Gln) c.514G>C (p.Glu172Gln) c.445G>C (p.Glu149Gln) | |
| 20 | g.44413705G>T | CA409105413 | HNF4A | c.331G>T (p.Glu111Ter) c.397G>T (p.Glu133Ter) c.371G>T n.373G>T n.1521G>T c.*164G>T (n.*164G>T) c.322G>T (p.Glu108Ter) c.376G>T (p.Glu126Ter) c.514G>T (p.Glu172Ter) c.445G>T (p.Glu149Ter) | ClinVar |
| 20 | g.44413706A>C | CA409105415 | HNF4A | c.332A>C (p.Glu111Ala) c.398A>C (p.Glu133Ala) c.372A>C n.374A>C n.1522A>C c.*165A>C (n.*165A>C) c.323A>C (p.Glu108Ala) c.377A>C (p.Glu126Ala) c.515A>C (p.Glu172Ala) c.446A>C (p.Glu149Ala) | |
| 20 | g.44413706A>G | CA409105418 | HNF4A | c.332A>G (p.Glu111Gly) c.398A>G (p.Glu133Gly) c.372A>G n.374A>G n.1522A>G c.*165A>G (n.*165A>G) c.323A>G (p.Glu108Gly) c.377A>G (p.Glu126Gly) c.515A>G (p.Glu172Gly) c.446A>G (p.Glu149Gly) | |
| 20 | g.44413706A>T | CA409105421 | HNF4A | c.332A>T (p.Glu111Val) c.398A>T (p.Glu133Val) c.372A>T n.374A>T n.1522A>T c.*165A>T (n.*165A>T) c.323A>T (p.Glu108Val) c.377A>T (p.Glu126Val) c.515A>T (p.Glu172Val) c.446A>T (p.Glu149Val) | |
| 20 | g.44413707G>A | CA510582587 | HNF4A | c.333G>A (p.Glu111=) c.399G>A (p.Glu133=) c.373G>A n.375G>A n.1523G>A c.*166G>A (n.*166G>A) c.324G>A (p.Glu108=) c.378G>A (p.Glu126=) c.516G>A (p.Glu172=) c.447G>A (p.Glu149=) | ClinVar |
| 20 | g.44413707G>C | CA409105424 | HNF4A | c.333G>C (p.Glu111Asp) c.399G>C (p.Glu133Asp) c.373G>C n.375G>C n.1523G>C c.*166G>C (n.*166G>C) c.324G>C (p.Glu108Asp) c.378G>C (p.Glu126Asp) c.516G>C (p.Glu172Asp) c.447G>C (p.Glu149Asp) | |
| 20 | g.44413707G>T | CA409105422 | HNF4A | c.333G>T (p.Glu111Asp) c.399G>T (p.Glu133Asp) c.373G>T n.375G>T n.1523G>T c.*166G>T (n.*166G>T) c.324G>T (p.Glu108Asp) c.378G>T (p.Glu126Asp) c.516G>T (p.Glu172Asp) c.447G>T (p.Glu149Asp) | |
| 20 | g.44413708C>A | CA9870227 | HNF4A | c.334C>A (p.Arg112=) c.400C>A (p.Arg134=) c.374C>A n.376C>A n.1524C>A c.*167C>A (n.*167C>A) c.325C>A (p.Arg109=) c.379C>A (p.Arg127=) c.517C>A (p.Arg173=) c.448C>A (p.Arg150=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44413708C= | CA2365761546 | HNF4A | c.334C= (p.Arg112=) c.400C= (p.Arg134=) c.374C= n.376C= n.1524C= c.*167C= (n.*167C=) c.325C= (p.Arg109=) c.379C= (p.Arg127=) c.517C= (p.Arg173=) c.448C= (p.Arg150=) | |
| 20 | g.44413708C>G | CA409105428 | HNF4A | c.334C>G (p.Arg112Gly) c.400C>G (p.Arg134Gly) c.374C>G n.376C>G n.1524C>G c.*167C>G (n.*167C>G) c.325C>G (p.Arg109Gly) c.379C>G (p.Arg127Gly) c.517C>G (p.Arg173Gly) c.448C>G (p.Arg150Gly) | gnomAD v4 |
| 20 | g.44413708C>T | CA9870226 | HNF4A | c.334C>T (p.Arg112Trp) c.400C>T (p.Arg134Trp) c.374C>T n.376C>T n.1524C>T c.*167C>T (n.*167C>T) c.325C>T (p.Arg109Trp) c.379C>T (p.Arg127Trp) c.517C>T (p.Arg173Trp) c.448C>T (p.Arg150Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44413709G>A | CA409105430 | HNF4A | c.335G>A (p.Arg112Gln) c.401G>A (p.Arg134Gln) c.375G>A n.377G>A n.1525G>A c.*168G>A (n.*168G>A) c.326G>A (p.Arg109Gln) c.380G>A (p.Arg127Gln) c.518G>A (p.Arg173Gln) c.449G>A (p.Arg150Gln) | ClinVar dbSNP gnomAD v4 |
| 20 | g.44413709G>C | CA409105433 | HNF4A | c.335G>C (p.Arg112Pro) c.401G>C (p.Arg134Pro) c.375G>C n.377G>C n.1525G>C c.*168G>C (n.*168G>C) c.326G>C (p.Arg109Pro) c.380G>C (p.Arg127Pro) c.518G>C (p.Arg173Pro) c.449G>C (p.Arg150Pro) | |
| 20 | g.44413709G= | CA2365761547 | HNF4A | c.335G= (p.Arg112=) c.401G= (p.Arg134=) c.375G= n.377G= n.1525G= c.*168G= (n.*168G=) c.326G= (p.Arg109=) c.380G= (p.Arg127=) c.518G= (p.Arg173=) c.449G= (p.Arg150=) | |
| 20 | g.44413709G>T | CA409105435 | HNF4A | c.335G>T (p.Arg112Leu) c.401G>T (p.Arg134Leu) c.375G>T n.377G>T n.1525G>T c.*168G>T (n.*168G>T) c.326G>T (p.Arg109Leu) c.380G>T (p.Arg127Leu) c.518G>T (p.Arg173Leu) c.449G>T (p.Arg150Leu) | |
| 20 | g.44413711del | CA2580617373 | HNF4A | c.337del (p.Asp113ThrfsTer?) c.403del (p.Asp135ThrfsTer?) c.377del n.379del n.1527del c.*170del (n.*170del) c.328del (p.Asp110ThrfsTer?) c.382del (p.Asp128ThrfsTer?) c.520del (p.Asp174ThrfsTer?) c.451del (p.Asp151ThrfsTer?) | gnomAD v4 |
| 20 | g.44413710G>A | CA510582588 | HNF4A | c.336G>A (p.Arg112=) c.402G>A (p.Arg134=) c.376G>A n.378G>A n.1526G>A c.*169G>A (n.*169G>A) c.327G>A (p.Arg109=) c.381G>A (p.Arg127=) c.519G>A (p.Arg173=) c.450G>A (p.Arg150=) | gnomAD v4 |
| 20 | g.44413710G>C | CA510582589 | HNF4A | c.336G>C (p.Arg112=) c.402G>C (p.Arg134=) c.376G>C n.378G>C n.1526G>C c.*169G>C (n.*169G>C) c.327G>C (p.Arg109=) c.381G>C (p.Arg127=) c.519G>C (p.Arg173=) c.450G>C (p.Arg150=) | |
| 20 | g.44413710G>T | CA510582590 | HNF4A | c.336G>T (p.Arg112=) c.402G>T (p.Arg134=) c.376G>T n.378G>T n.1526G>T c.*169G>T (n.*169G>T) c.327G>T (p.Arg109=) c.381G>T (p.Arg127=) c.519G>T (p.Arg173=) c.450G>T (p.Arg150=) | |
| 20 | g.44413711G>A | CA409105436 | HNF4A | c.337G>A (p.Asp113Asn) c.403G>A (p.Asp135Asn) c.377G>A n.379G>A n.1527G>A c.*170G>A (n.*170G>A) c.328G>A (p.Asp110Asn) c.382G>A (p.Asp128Asn) c.520G>A (p.Asp174Asn) c.451G>A (p.Asp151Asn) | gnomAD v4 COSMIC COSMIC COSMIC |
| 20 | g.44413711G>C | CA409105438 | HNF4A | c.337G>C (p.Asp113His) c.403G>C (p.Asp135His) c.377G>C n.379G>C n.1527G>C c.*170G>C (n.*170G>C) c.328G>C (p.Asp110His) c.382G>C (p.Asp128His) c.520G>C (p.Asp174His) c.451G>C (p.Asp151His) | ClinVar |
| 20 | g.44413711G>T | CA409105441 | HNF4A | c.337G>T (p.Asp113Tyr) c.403G>T (p.Asp135Tyr) c.377G>T n.379G>T n.1527G>T c.*170G>T (n.*170G>T) c.328G>T (p.Asp110Tyr) c.382G>T (p.Asp128Tyr) c.520G>T (p.Asp174Tyr) c.451G>T (p.Asp151Tyr) | ClinVar |
| 20 | g.44413712A>C | CA409105443 | HNF4A | c.338A>C (p.Asp113Ala) c.404A>C (p.Asp135Ala) c.378A>C n.380A>C n.1528A>C c.*171A>C (n.*171A>C) c.329A>C (p.Asp110Ala) c.383A>C (p.Asp128Ala) c.521A>C (p.Asp174Ala) c.452A>C (p.Asp151Ala) | |
| 20 | g.44413712A>G | CA409105445 | HNF4A | c.338A>G (p.Asp113Gly) c.404A>G (p.Asp135Gly) c.378A>G n.380A>G n.1528A>G c.*171A>G (n.*171A>G) c.329A>G (p.Asp110Gly) c.383A>G (p.Asp128Gly) c.521A>G (p.Asp174Gly) c.452A>G (p.Asp151Gly) | |
| 20 | g.44413712A>T | CA409105446 | HNF4A | c.338A>T (p.Asp113Val) c.404A>T (p.Asp135Val) c.378A>T n.380A>T n.1528A>T c.*171A>T (n.*171A>T) c.329A>T (p.Asp110Val) c.383A>T (p.Asp128Val) c.521A>T (p.Asp174Val) c.452A>T (p.Asp151Val) | |
| 20 | g.44413713C>A | CA409105448 | HNF4A | c.339C>A (p.Asp113Glu) c.405C>A (p.Asp135Glu) c.379C>A n.381C>A n.1529C>A c.*172C>A (n.*172C>A) c.330C>A (p.Asp110Glu) c.384C>A (p.Asp128Glu) c.522C>A (p.Asp174Glu) c.453C>A (p.Asp151Glu) | |
| 20 | g.44413713C>G | CA409105449 | HNF4A | c.339C>G (p.Asp113Glu) c.405C>G (p.Asp135Glu) c.379C>G n.381C>G n.1529C>G c.*172C>G (n.*172C>G) c.330C>G (p.Asp110Glu) c.384C>G (p.Asp128Glu) c.522C>G (p.Asp174Glu) c.453C>G (p.Asp151Glu) | |
| 20 | g.44413713C>T | CA510582591 | HNF4A | c.339C>T (p.Asp113=) c.405C>T (p.Asp135=) c.379C>T n.381C>T n.1529C>T c.*172C>T (n.*172C>T) c.330C>T (p.Asp110=) c.384C>T (p.Asp128=) c.522C>T (p.Asp174=) c.453C>T (p.Asp151=) | |
| 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=) | |
| 20 | g.44413728A>G | CA510582603 | HNF4A | c.354A>G (p.Arg118=) c.420A>G (p.Arg140=) c.394A>G n.396A>G n.1544A>G c.*187A>G (n.*187A>G) c.345A>G (p.Arg115=) c.399A>G (p.Arg133=) c.537A>G (p.Arg179=) c.468A>G (p.Arg156=) | |
| 20 | g.44413728A>T | CA510582604 | HNF4A | c.354A>T (p.Arg118=) c.420A>T (p.Arg140=) c.394A>T n.396A>T n.1544A>T c.*187A>T (n.*187A>T) c.345A>T (p.Arg115=) c.399A>T (p.Arg133=) c.537A>T (p.Arg179=) c.468A>T (p.Arg156=) | |
| 20 | g.44413729A= | CA2365761555 | HNF4A | c.355A= (p.Arg119=) c.421A= (p.Arg141=) c.395A= n.397A= n.1545A= c.*188A= (n.*188A=) c.346A= (p.Arg116=) c.400A= (p.Arg134=) c.538A= (p.Arg180=) c.469A= (p.Arg157=) | |
| 20 | g.44413729A>C | CA510582605 | HNF4A | c.355A>C (p.Arg119=) c.421A>C (p.Arg141=) c.395A>C n.397A>C n.1545A>C c.*188A>C (n.*188A>C) c.346A>C (p.Arg116=) c.400A>C (p.Arg134=) c.538A>C (p.Arg180=) c.469A>C (p.Arg157=) | |
| 20 | g.44413729A>G | CA315408392 | HNF4A | c.355A>G (p.Arg119Gly) c.421A>G (p.Arg141Gly) c.395A>G n.397A>G n.1545A>G c.*188A>G (n.*188A>G) c.346A>G (p.Arg116Gly) c.400A>G (p.Arg134Gly) c.538A>G (p.Arg180Gly) c.469A>G (p.Arg157Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44413729A>T | CA409105521 | HNF4A | c.355A>T (p.Arg119Trp) c.421A>T (p.Arg141Trp) c.395A>T n.397A>T n.1545A>T c.*188A>T (n.*188A>T) c.346A>T (p.Arg116Trp) c.400A>T (p.Arg134Trp) c.538A>T (p.Arg180Trp) c.469A>T (p.Arg157Trp) | gnomAD v4 |
| 20 | g.44413730G>A | CA409105525 | HNF4A | c.356G>A (p.Arg119Lys) c.422G>A (p.Arg141Lys) c.396G>A n.398G>A n.1546G>A c.*189G>A (n.*189G>A) c.347G>A (p.Arg116Lys) c.401G>A (p.Arg134Lys) c.539G>A (p.Arg180Lys) c.470G>A (p.Arg157Lys) | gnomAD v4 |
| 20 | g.44413730G>C | CA409105527 | HNF4A | c.356G>C (p.Arg119Thr) c.422G>C (p.Arg141Thr) c.396G>C n.398G>C n.1546G>C c.*189G>C (n.*189G>C) c.347G>C (p.Arg116Thr) c.401G>C (p.Arg134Thr) c.539G>C (p.Arg180Thr) c.470G>C (p.Arg157Thr) | |
| 20 | g.44413730G>T | CA409105529 | HNF4A | c.356G>T (p.Arg119Met) c.422G>T (p.Arg141Met) c.396G>T n.398G>T n.1546G>T c.*189G>T (n.*189G>T) c.347G>T (p.Arg116Met) c.401G>T (p.Arg134Met) c.539G>T (p.Arg180Met) c.470G>T (p.Arg157Met) | |
| 20 | g.44413731G>A | CA510582606 | HNF4A | c.357G>A (p.Arg119=) c.423G>A (p.Arg141=) c.397G>A n.399G>A n.1547G>A c.*190G>A (n.*190G>A) c.348G>A (p.Arg116=) c.402G>A (p.Arg134=) c.540G>A (p.Arg180=) c.471G>A (p.Arg157=) | gnomAD v4 |
| 20 | g.44413731G>C | CA409105531 | HNF4A | c.357G>C (p.Arg119Ser) c.423G>C (p.Arg141Ser) c.397G>C n.399G>C n.1547G>C c.*190G>C (n.*190G>C) c.348G>C (p.Arg116Ser) c.402G>C (p.Arg134Ser) c.540G>C (p.Arg180Ser) c.471G>C (p.Arg157Ser) | |
| 20 | g.44413731G>T | CA409105533 | HNF4A | c.357G>T (p.Arg119Ser) c.423G>T (p.Arg141Ser) c.397G>T n.399G>T n.1547G>T c.*190G>T (n.*190G>T) c.348G>T (p.Arg116Ser) c.402G>T (p.Arg134Ser) c.540G>T (p.Arg180Ser) c.471G>T (p.Arg157Ser) | |
| 20 | g.44413732T>A | CA409105537 | HNF4A | c.358T>A (p.Ser120Thr) c.424T>A (p.Ser142Thr) c.398T>A n.400T>A n.1548T>A c.*191T>A (n.*191T>A) c.349T>A (p.Ser117Thr) c.403T>A (p.Ser135Thr) c.541T>A (p.Ser181Thr) c.472T>A (p.Ser158Thr) | |
| 20 | g.44413732T>C | CA9870233 | HNF4A | c.358T>C (p.Ser120Pro) c.424T>C (p.Ser142Pro) c.398T>C n.400T>C n.1548T>C c.*191T>C (n.*191T>C) c.349T>C (p.Ser117Pro) c.403T>C (p.Ser135Pro) c.541T>C (p.Ser181Pro) c.472T>C (p.Ser158Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44413732T>G | CA409105540 | HNF4A | c.358T>G (p.Ser120Ala) c.424T>G (p.Ser142Ala) c.398T>G n.400T>G n.1548T>G c.*191T>G (n.*191T>G) c.349T>G (p.Ser117Ala) c.403T>G (p.Ser135Ala) c.541T>G (p.Ser181Ala) c.472T>G (p.Ser158Ala) | gnomAD v4 |
| 20 | g.44413732T= | CA2365761556 | HNF4A | c.358T= (p.Ser120=) c.424T= (p.Ser142=) c.398T= n.400T= n.1548T= c.*191T= (n.*191T=) c.349T= (p.Ser117=) c.403T= (p.Ser135=) c.541T= (p.Ser181=) c.472T= (p.Ser158=) | |
| 20 | g.44413733C>A | CA409105542 | HNF4A | c.359C>A (p.Ser120Ter) c.425C>A (p.Ser142Ter) c.399C>A n.401C>A n.1549C>A c.*192C>A (n.*192C>A) c.350C>A (p.Ser117Ter) c.404C>A (p.Ser135Ter) c.542C>A (p.Ser181Ter) c.473C>A (p.Ser158Ter) | |
| 20 | g.44413733C>G | CA409105545 | HNF4A | c.359C>G (p.Ser120Ter) c.425C>G (p.Ser142Ter) c.399C>G n.401C>G n.1549C>G c.*192C>G (n.*192C>G) c.350C>G (p.Ser117Ter) c.404C>G (p.Ser135Ter) c.542C>G (p.Ser181Ter) c.473C>G (p.Ser158Ter) | |
| 20 | g.44413733C>T | CA409105547 | HNF4A | c.359C>T (p.Ser120Leu) c.425C>T (p.Ser142Leu) c.399C>T n.401C>T n.1549C>T c.*192C>T (n.*192C>T) c.350C>T (p.Ser117Leu) c.404C>T (p.Ser135Leu) c.542C>T (p.Ser181Leu) c.473C>T (p.Ser158Leu) | |
| 20 | g.44413734A= | CA2365761557 | HNF4A | c.360A= (p.Ser120=) c.426A= (p.Ser142=) c.400A= n.402A= n.1550A= c.*193A= (n.*193A=) c.351A= (p.Ser117=) c.405A= (p.Ser135=) c.543A= (p.Ser181=) c.474A= (p.Ser158=) | |
| 20 | g.44413734A>C | CA510582607 | HNF4A | c.360A>C (p.Ser120=) c.426A>C (p.Ser142=) c.400A>C n.402A>C n.1550A>C c.*193A>C (n.*193A>C) c.351A>C (p.Ser117=) c.405A>C (p.Ser135=) c.543A>C (p.Ser181=) c.474A>C (p.Ser158=) | |
| 20 | g.44413734A>G | CA9870234 | HNF4A | c.360A>G (p.Ser120=) c.426A>G (p.Ser142=) c.400A>G n.402A>G n.1550A>G c.*193A>G (n.*193A>G) c.351A>G (p.Ser117=) c.405A>G (p.Ser135=) c.543A>G (p.Ser181=) c.474A>G (p.Ser158=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44413734A>T | CA510582608 | HNF4A | c.360A>T (p.Ser120=) c.426A>T (p.Ser142=) c.400A>T n.402A>T n.1550A>T c.*193A>T (n.*193A>T) c.351A>T (p.Ser117=) c.405A>T (p.Ser135=) c.543A>T (p.Ser181=) c.474A>T (p.Ser158=) | |
| 20 | g.44413735A= | CA2365761558 | HNF4A | c.361A= (p.Ser121=) c.427A= (p.Ser143=) c.401A= n.403A= n.1551A= c.*194A= (n.*194A=) c.352A= (p.Ser118=) c.406A= (p.Ser136=) c.544A= (p.Ser182=) c.475A= (p.Ser159=) | |
| 20 | g.44413735A>C | CA409105552 | HNF4A | c.361A>C (p.Ser121Arg) c.427A>C (p.Ser143Arg) c.401A>C n.403A>C n.1551A>C c.*194A>C (n.*194A>C) c.352A>C (p.Ser118Arg) c.406A>C (p.Ser136Arg) c.544A>C (p.Ser182Arg) c.475A>C (p.Ser159Arg) | |
| 20 | g.44413735A>G | CA213929 | HNF4A | c.361A>G (p.Ser121Gly) c.427A>G (p.Ser143Gly) c.401A>G n.403A>G n.1551A>G c.*194A>G (n.*194A>G) c.352A>G (p.Ser118Gly) c.406A>G (p.Ser136Gly) c.544A>G (p.Ser182Gly) c.475A>G (p.Ser159Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44413735A>T | CA409105549 | HNF4A | c.361A>T (p.Ser121Cys) c.427A>T (p.Ser143Cys) c.401A>T n.403A>T n.1551A>T c.*194A>T (n.*194A>T) c.352A>T (p.Ser118Cys) c.406A>T (p.Ser136Cys) c.544A>T (p.Ser182Cys) c.475A>T (p.Ser159Cys) | |
| 20 | g.44413736G>A | CA409105555 | HNF4A | c.362G>A (p.Ser121Asn) c.428G>A (p.Ser143Asn) c.402G>A n.404G>A n.1552G>A c.*195G>A (n.*195G>A) c.353G>A (p.Ser118Asn) c.407G>A (p.Ser136Asn) c.545G>A (p.Ser182Asn) c.476G>A (p.Ser159Asn) | |
| 20 | g.44413736G>C | CA409105557 | HNF4A | c.362G>C (p.Ser121Thr) c.428G>C (p.Ser143Thr) c.402G>C n.404G>C n.1552G>C c.*195G>C (n.*195G>C) c.353G>C (p.Ser118Thr) c.407G>C (p.Ser136Thr) c.545G>C (p.Ser182Thr) c.476G>C (p.Ser159Thr) | |
| 20 | g.44413736G>T | CA409105559 | HNF4A | c.362G>T (p.Ser121Ile) c.428G>T (p.Ser143Ile) c.402G>T n.404G>T n.1552G>T c.*195G>T (n.*195G>T) c.353G>T (p.Ser118Ile) c.407G>T (p.Ser136Ile) c.545G>T (p.Ser182Ile) c.476G>T (p.Ser159Ile) | |
| 20 | g.44413737C>A | CA409105561 | HNF4A | c.363C>A (p.Ser121Arg) c.429C>A (p.Ser143Arg) c.403C>A n.405C>A n.1553C>A c.*196C>A (n.*196C>A) c.354C>A (p.Ser118Arg) c.408C>A (p.Ser136Arg) c.546C>A (p.Ser182Arg) c.477C>A (p.Ser159Arg) | |
| 20 | g.44413737C>G | CA409105564 | HNF4A | c.363C>G (p.Ser121Arg) c.429C>G (p.Ser143Arg) c.403C>G n.405C>G n.1553C>G c.*196C>G (n.*196C>G) c.354C>G (p.Ser118Arg) c.408C>G (p.Ser136Arg) c.546C>G (p.Ser182Arg) c.477C>G (p.Ser159Arg) | |
| 20 | g.44413737C>T | CA510582609 | HNF4A | c.363C>T (p.Ser121=) c.429C>T (p.Ser143=) c.403C>T n.405C>T n.1553C>T c.*196C>T (n.*196C>T) c.354C>T (p.Ser118=) c.408C>T (p.Ser136=) c.546C>T (p.Ser182=) c.477C>T (p.Ser159=) | |
| 20 | g.44413738T>A | CA409105567 | HNF4A | c.364T>A (p.Tyr122Asn) c.430T>A (p.Tyr144Asn) c.404T>A n.406T>A n.1554T>A c.*197T>A (n.*197T>A) c.355T>A (p.Tyr119Asn) c.409T>A (p.Tyr137Asn) c.547T>A (p.Tyr183Asn) c.478T>A (p.Tyr160Asn) | |
| 20 | g.44413738T>C | CA409105568 | HNF4A | c.364T>C (p.Tyr122His) c.430T>C (p.Tyr144His) c.404T>C n.406T>C n.1554T>C c.*197T>C (n.*197T>C) c.355T>C (p.Tyr119His) c.409T>C (p.Tyr137His) c.547T>C (p.Tyr183His) c.478T>C (p.Tyr160His) | |
| 20 | g.44413738T>G | CA409105571 | HNF4A | c.364T>G (p.Tyr122Asp) c.430T>G (p.Tyr144Asp) c.404T>G n.406T>G n.1554T>G c.*197T>G (n.*197T>G) c.355T>G (p.Tyr119Asp) c.409T>G (p.Tyr137Asp) c.547T>G (p.Tyr183Asp) c.478T>G (p.Tyr160Asp) | |
| 20 | g.44413739A>C | CA409105573 | HNF4A | c.365A>C (p.Tyr122Ser) c.431A>C (p.Tyr144Ser) c.405A>C n.407A>C n.1555A>C c.*198A>C (n.*198A>C) c.356A>C (p.Tyr119Ser) c.410A>C (p.Tyr137Ser) c.548A>C (p.Tyr183Ser) c.479A>C (p.Tyr160Ser) | |
| 20 | g.44413739A>G | CA409105575 | HNF4A | c.365A>G (p.Tyr122Cys) c.431A>G (p.Tyr144Cys) c.405A>G n.407A>G n.1555A>G c.*198A>G (n.*198A>G) c.356A>G (p.Tyr119Cys) c.410A>G (p.Tyr137Cys) c.548A>G (p.Tyr183Cys) c.479A>G (p.Tyr160Cys) | gnomAD v4 |
| 20 | g.44413739A>T | CA409105577 | HNF4A | c.365A>T (p.Tyr122Phe) c.431A>T (p.Tyr144Phe) c.405A>T n.407A>T n.1555A>T c.*198A>T (n.*198A>T) c.356A>T (p.Tyr119Phe) c.410A>T (p.Tyr137Phe) c.548A>T (p.Tyr183Phe) c.479A>T (p.Tyr160Phe) | |
| 20 | g.44413740T>A | CA409105581 | HNF4A | c.366T>A (p.Tyr122Ter) c.432T>A (p.Tyr144Ter) c.406T>A n.408T>A n.1556T>A c.*199T>A (n.*199T>A) c.357T>A (p.Tyr119Ter) c.411T>A (p.Tyr137Ter) c.549T>A (p.Tyr183Ter) c.480T>A (p.Tyr160Ter) | |
| 20 | g.44413740T>C | CA510582610 | HNF4A | c.366T>C (p.Tyr122=) c.432T>C (p.Tyr144=) c.406T>C n.408T>C n.1556T>C c.*199T>C (n.*199T>C) c.357T>C (p.Tyr119=) c.411T>C (p.Tyr137=) c.549T>C (p.Tyr183=) c.480T>C (p.Tyr160=) | gnomAD v4 |
| 20 | g.44413740T>G | CA409105584 | HNF4A | c.366T>G (p.Tyr122Ter) c.432T>G (p.Tyr144Ter) c.406T>G n.408T>G n.1556T>G c.*199T>G (n.*199T>G) c.357T>G (p.Tyr119Ter) c.411T>G (p.Tyr137Ter) c.549T>G (p.Tyr183Ter) c.480T>G (p.Tyr160Ter) | |
| 20 | g.44413741G>A | CA409105590 | HNF4A | c.367G>A (p.Glu123Lys) c.433G>A (p.Glu145Lys) c.407G>A n.409G>A n.1557G>A c.*200G>A (n.*200G>A) c.358G>A (p.Glu120Lys) c.412G>A (p.Glu138Lys) c.550G>A (p.Glu184Lys) c.481G>A (p.Glu161Lys) | dbSNP |
| 20 | g.44413741G>C | CA409105589 | HNF4A | c.367G>C (p.Glu123Gln) c.433G>C (p.Glu145Gln) c.407G>C n.409G>C n.1557G>C c.*200G>C (n.*200G>C) c.358G>C (p.Glu120Gln) c.412G>C (p.Glu138Gln) c.550G>C (p.Glu184Gln) c.481G>C (p.Glu161Gln) | gnomAD v4 |
| 20 | g.44413741G= | CA2365761559 | HNF4A | c.367G= (p.Glu123=) c.433G= (p.Glu145=) c.407G= n.409G= n.1557G= c.*200G= (n.*200G=) c.358G= (p.Glu120=) c.412G= (p.Glu138=) c.550G= (p.Glu184=) c.481G= (p.Glu161=) | |
| 20 | g.44413741G>T | CA409105587 | HNF4A | c.367G>T (p.Glu123Ter) c.433G>T (p.Glu145Ter) c.407G>T n.409G>T n.1557G>T c.*200G>T (n.*200G>T) c.358G>T (p.Glu120Ter) c.412G>T (p.Glu138Ter) c.550G>T (p.Glu184Ter) c.481G>T (p.Glu161Ter) | |
| 20 | g.44413742A= | CA2365761560 | HNF4A | c.368A= (p.Glu123=) c.434A= (p.Glu145=) c.408A= n.410A= n.1558A= c.*201A= (n.*201A=) c.359A= (p.Glu120=) c.413A= (p.Glu138=) c.551A= (p.Glu184=) c.482A= (p.Glu161=) | |
| 20 | g.44413742A>C | CA409105592 | HNF4A | c.368A>C (p.Glu123Ala) c.434A>C (p.Glu145Ala) c.408A>C n.410A>C n.1558A>C c.*201A>C (n.*201A>C) c.359A>C (p.Glu120Ala) c.413A>C (p.Glu138Ala) c.551A>C (p.Glu184Ala) c.482A>C (p.Glu161Ala) | |
| 20 | g.44413742A>G | CA409105594 | HNF4A | c.368A>G (p.Glu123Gly) c.434A>G (p.Glu145Gly) c.408A>G n.410A>G n.1558A>G c.*201A>G (n.*201A>G) c.359A>G (p.Glu120Gly) c.413A>G (p.Glu138Gly) c.551A>G (p.Glu184Gly) c.482A>G (p.Glu161Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.44413742A>T | CA409105597 | HNF4A | c.368A>T (p.Glu123Val) c.434A>T (p.Glu145Val) c.408A>T n.410A>T n.1558A>T c.*201A>T (n.*201A>T) c.359A>T (p.Glu120Val) c.413A>T (p.Glu138Val) c.551A>T (p.Glu184Val) c.482A>T (p.Glu161Val) | |
| 20 | g.44413743G>A | CA9870235 | HNF4A | c.369G>A (p.Glu123=) c.435G>A (p.Glu145=) c.409G>A n.411G>A n.1559G>A c.*202G>A (n.*202G>A) c.360G>A (p.Glu120=) c.414G>A (p.Glu138=) c.552G>A (p.Glu184=) c.483G>A (p.Glu161=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 20 | g.44413743G>C | CA409105599 | HNF4A | c.369G>C (p.Glu123Asp) c.435G>C (p.Glu145Asp) c.409G>C n.411G>C n.1559G>C c.*202G>C (n.*202G>C) c.360G>C (p.Glu120Asp) c.414G>C (p.Glu138Asp) c.552G>C (p.Glu184Asp) c.483G>C (p.Glu161Asp) | |
| 20 | g.44413743G= | CA2365761561 | HNF4A | c.369G= (p.Glu123=) c.435G= (p.Glu145=) c.409G= n.411G= n.1559G= c.*202G= (n.*202G=) c.360G= (p.Glu120=) c.414G= (p.Glu138=) c.552G= (p.Glu184=) c.483G= (p.Glu161=) | |
| 20 | g.44413743G>T | CA409105601 | HNF4A | c.369G>T (p.Glu123Asp) c.435G>T (p.Glu145Asp) c.409G>T n.411G>T n.1559G>T c.*202G>T (n.*202G>T) c.360G>T (p.Glu120Asp) c.414G>T (p.Glu138Asp) c.552G>T (p.Glu184Asp) c.483G>T (p.Glu161Asp) | |
| 20 | g.44413744G>A | CA409105603 | HNF4A | c.370G>A (p.Asp124Asn) c.436G>A (p.Asp146Asn) c.410G>A n.412G>A n.1560G>A c.*203G>A (n.*203G>A) c.361G>A (p.Asp121Asn) c.415G>A (p.Asp139Asn) c.553G>A (p.Asp185Asn) c.484G>A (p.Asp162Asn) | gnomAD v4 |
| 20 | g.44413744G>C | CA409105606 | HNF4A | c.370G>C (p.Asp124His) c.436G>C (p.Asp146His) c.410G>C n.412G>C n.1560G>C c.*203G>C (n.*203G>C) c.361G>C (p.Asp121His) c.415G>C (p.Asp139His) c.553G>C (p.Asp185His) c.484G>C (p.Asp162His) | |
| 20 | g.44413744G>T | CA409105609 | HNF4A | c.370G>T (p.Asp124Tyr) c.436G>T (p.Asp146Tyr) c.410G>T n.412G>T n.1560G>T c.*203G>T (n.*203G>T) c.361G>T (p.Asp121Tyr) c.415G>T (p.Asp139Tyr) c.553G>T (p.Asp185Tyr) c.484G>T (p.Asp162Tyr) | |
| 20 | g.44413745A>C | CA409105611 | HNF4A | c.371A>C (p.Asp124Ala) c.437A>C (p.Asp146Ala) c.411A>C n.413A>C n.1561A>C c.*204A>C (n.*204A>C) c.362A>C (p.Asp121Ala) c.416A>C (p.Asp139Ala) c.554A>C (p.Asp185Ala) c.485A>C (p.Asp162Ala) | |
| 20 | g.44413745A>G | CA409105613 | HNF4A | c.371A>G (p.Asp124Gly) c.437A>G (p.Asp146Gly) c.411A>G n.413A>G n.1561A>G c.*204A>G (n.*204A>G) c.362A>G (p.Asp121Gly) c.416A>G (p.Asp139Gly) c.554A>G (p.Asp185Gly) c.485A>G (p.Asp162Gly) | |
| 20 | g.44413745A>T | CA409105616 | HNF4A | c.371A>T (p.Asp124Val) c.437A>T (p.Asp146Val) c.411A>T n.413A>T n.1561A>T c.*204A>T (n.*204A>T) c.362A>T (p.Asp121Val) c.416A>T (p.Asp139Val) c.554A>T (p.Asp185Val) c.485A>T (p.Asp162Val) | |
| 20 | g.44413746C>A | CA409105619 | HNF4A | c.372C>A (p.Asp124Glu) c.438C>A (p.Asp146Glu) c.412C>A n.414C>A n.1562C>A c.*205C>A (n.*205C>A) c.363C>A (p.Asp121Glu) c.417C>A (p.Asp139Glu) c.555C>A (p.Asp185Glu) c.486C>A (p.Asp162Glu) | gnomAD v4 |
| 20 | g.44413746C= | CA2365761562 | HNF4A | c.372C= (p.Asp124=) c.438C= (p.Asp146=) c.412C= n.414C= n.1562C= c.*205C= (n.*205C=) c.363C= (p.Asp121=) c.417C= (p.Asp139=) c.555C= (p.Asp185=) c.486C= (p.Asp162=) | |
| 20 | g.44413746C>G | CA409105621 | HNF4A | c.372C>G (p.Asp124Glu) c.438C>G (p.Asp146Glu) c.412C>G n.414C>G n.1562C>G c.*205C>G (n.*205C>G) c.363C>G (p.Asp121Glu) c.417C>G (p.Asp139Glu) c.555C>G (p.Asp185Glu) c.486C>G (p.Asp162Glu) | |
| 20 | g.44413746C>T | CA510582611 | HNF4A | c.372C>T (p.Asp124=) c.438C>T (p.Asp146=) c.412C>T n.414C>T n.1562C>T c.*205C>T (n.*205C>T) c.363C>T (p.Asp121=) c.417C>T (p.Asp139=) c.555C>T (p.Asp185=) c.486C>T (p.Asp162=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.44413747A>C | CA409105631 | HNF4A | c.373A>C (p.Ser125Arg) c.439A>C (p.Ser147Arg) c.413A>C n.415A>C n.1563A>C c.*206A>C (n.*206A>C) c.364A>C (p.Ser122Arg) c.418A>C (p.Ser140Arg) c.556A>C (p.Ser186Arg) c.487A>C (p.Ser163Arg) | |
| 20 | g.44413747A>G | CA409105628 | HNF4A | c.373A>G (p.Ser125Gly) c.439A>G (p.Ser147Gly) c.413A>G n.415A>G n.1563A>G c.*206A>G (n.*206A>G) c.364A>G (p.Ser122Gly) c.418A>G (p.Ser140Gly) c.556A>G (p.Ser186Gly) c.487A>G (p.Ser163Gly) | |
| 20 | g.44413747A>T | CA409105624 | HNF4A | c.373A>T (p.Ser125Cys) c.439A>T (p.Ser147Cys) c.413A>T n.415A>T n.1563A>T c.*206A>T (n.*206A>T) c.364A>T (p.Ser122Cys) c.418A>T (p.Ser140Cys) c.556A>T (p.Ser186Cys) c.487A>T (p.Ser163Cys) | |
| 20 | g.44413748G>A | CA409105632 | HNF4A | c.374G>A (p.Ser125Asn) c.440G>A (p.Ser147Asn) c.414G>A n.416G>A n.1564G>A c.*207G>A (n.*207G>A) c.365G>A (p.Ser122Asn) c.419G>A (p.Ser140Asn) c.557G>A (p.Ser186Asn) c.488G>A (p.Ser163Asn) | |
| 20 | g.44413748G>C | CA409105633 | HNF4A | c.374G>C (p.Ser125Thr) c.440G>C (p.Ser147Thr) c.414G>C n.416G>C n.1564G>C c.*207G>C (n.*207G>C) c.365G>C (p.Ser122Thr) c.419G>C (p.Ser140Thr) c.557G>C (p.Ser186Thr) c.488G>C (p.Ser163Thr) | |
| 20 | g.44413748G>T | CA409105636 | HNF4A | c.374G>T (p.Ser125Ile) c.440G>T (p.Ser147Ile) c.414G>T n.416G>T n.1564G>T c.*207G>T (n.*207G>T) c.365G>T (p.Ser122Ile) c.419G>T (p.Ser140Ile) c.557G>T (p.Ser186Ile) c.488G>T (p.Ser163Ile) | |
| 20 | g.44413749C>A | CA409105639 | HNF4A | c.375C>A (p.Ser125Arg) c.441C>A (p.Ser147Arg) c.415C>A n.417C>A n.1565C>A c.*208C>A (n.*208C>A) c.366C>A (p.Ser122Arg) c.420C>A (p.Ser140Arg) c.558C>A (p.Ser186Arg) c.489C>A (p.Ser163Arg) | |
| 20 | g.44413749C>G | CA409105640 | HNF4A | c.375C>G (p.Ser125Arg) c.441C>G (p.Ser147Arg) c.415C>G n.417C>G n.1565C>G c.*208C>G (n.*208C>G) c.366C>G (p.Ser122Arg) c.420C>G (p.Ser140Arg) c.558C>G (p.Ser186Arg) c.489C>G (p.Ser163Arg) | |
| 20 | g.44413749C>T | CA510582612 | HNF4A | c.375C>T (p.Ser125=) c.441C>T (p.Ser147=) c.415C>T n.417C>T n.1565C>T c.*208C>T (n.*208C>T) c.366C>T (p.Ser122=) c.420C>T (p.Ser140=) c.558C>T (p.Ser186=) c.489C>T (p.Ser163=) | |
| 20 | g.44413750A>C | CA409105643 | HNF4A | c.376A>C (p.Ser126Arg) c.442A>C (p.Ser148Arg) c.416A>C n.418A>C n.1566A>C c.*209A>C (n.*209A>C) c.367A>C (p.Ser123Arg) c.421A>C (p.Ser141Arg) c.559A>C (p.Ser187Arg) c.490A>C (p.Ser164Arg) | |
| 20 | g.44413750A>G | CA409105644 | HNF4A | c.376A>G (p.Ser126Gly) c.442A>G (p.Ser148Gly) c.416A>G n.418A>G n.1566A>G c.*209A>G (n.*209A>G) c.367A>G (p.Ser123Gly) c.421A>G (p.Ser141Gly) c.559A>G (p.Ser187Gly) c.490A>G (p.Ser164Gly) | gnomAD v4 |
| 20 | g.44413750A>T | CA409105647 | HNF4A | c.376A>T (p.Ser126Cys) c.442A>T (p.Ser148Cys) c.416A>T n.418A>T n.1566A>T c.*209A>T (n.*209A>T) c.367A>T (p.Ser123Cys) c.421A>T (p.Ser141Cys) c.559A>T (p.Ser187Cys) c.490A>T (p.Ser164Cys) | |
| 20 | g.44413751G>A | CA409105650 | HNF4A | c.377G>A (p.Ser126Asn) c.443G>A (p.Ser148Asn) c.417G>A n.419G>A n.1567G>A c.*210G>A (n.*210G>A) c.368G>A (p.Ser123Asn) c.422G>A (p.Ser141Asn) c.560G>A (p.Ser187Asn) c.491G>A (p.Ser164Asn) | dbSNP |
| 20 | g.44413751G>C | CA409105655 | HNF4A | c.377G>C (p.Ser126Thr) c.443G>C (p.Ser148Thr) c.417G>C n.419G>C n.1567G>C c.*210G>C (n.*210G>C) c.368G>C (p.Ser123Thr) c.422G>C (p.Ser141Thr) c.560G>C (p.Ser187Thr) c.491G>C (p.Ser164Thr) | |
| 20 | g.44413751G>T | CA409105653 | HNF4A | c.377G>T (p.Ser126Ile) c.443G>T (p.Ser148Ile) c.417G>T n.419G>T n.1567G>T c.*210G>T (n.*210G>T) c.368G>T (p.Ser123Ile) c.422G>T (p.Ser141Ile) c.560G>T (p.Ser187Ile) c.491G>T (p.Ser164Ile) | |
| 20 | g.44413752C>A | CA409105658 | HNF4A | c.378C>A (p.Ser126Arg) c.444C>A (p.Ser148Arg) c.418C>A n.420C>A n.1568C>A c.*211C>A (n.*211C>A) c.369C>A (p.Ser123Arg) c.423C>A (p.Ser141Arg) c.561C>A (p.Ser187Arg) c.492C>A (p.Ser164Arg) | |
| 20 | g.44413752C= | CA2365761563 | HNF4A | c.378C= (p.Ser126=) c.444C= (p.Ser148=) c.418C= n.420C= n.1568C= c.*211C= (n.*211C=) c.369C= (p.Ser123=) c.423C= (p.Ser141=) c.561C= (p.Ser187=) c.492C= (p.Ser164=) | |
| 20 | g.44413752C>G | CA409105660 | HNF4A | c.378C>G (p.Ser126Arg) c.444C>G (p.Ser148Arg) c.418C>G n.420C>G n.1568C>G c.*211C>G (n.*211C>G) c.369C>G (p.Ser123Arg) c.423C>G (p.Ser141Arg) c.561C>G (p.Ser187Arg) c.492C>G (p.Ser164Arg) | |
| 20 | g.44413752C>T | CA510582613 | HNF4A | c.378C>T (p.Ser126=) c.444C>T (p.Ser148=) c.418C>T n.420C>T n.1568C>T c.*211C>T (n.*211C>T) c.369C>T (p.Ser123=) c.423C>T (p.Ser141=) c.561C>T (p.Ser187=) c.492C>T (p.Ser164=) | dbSNP COSMIC COSMIC COSMIC |
| 20 | g.44413753C>A | CA409105663 | HNF4A | c.379C>A (p.Leu127Met) c.445C>A (p.Leu149Met) c.419C>A n.421C>A n.1569C>A c.*212C>A (n.*212C>A) c.370C>A (p.Leu124Met) c.424C>A (p.Leu142Met) c.562C>A (p.Leu188Met) c.493C>A (p.Leu165Met) | |
| 20 | g.44413753C>G | CA409105664 | HNF4A | c.379C>G (p.Leu127Val) c.445C>G (p.Leu149Val) c.419C>G n.421C>G n.1569C>G c.*212C>G (n.*212C>G) c.370C>G (p.Leu124Val) c.424C>G (p.Leu142Val) c.562C>G (p.Leu188Val) c.493C>G (p.Leu165Val) | |
| 20 | g.44413753C>T | CA510582614 | HNF4A | c.379C>T (p.Leu127=) c.445C>T (p.Leu149=) c.419C>T n.421C>T n.1569C>T c.*212C>T (n.*212C>T) c.370C>T (p.Leu124=) c.424C>T (p.Leu142=) c.562C>T (p.Leu188=) c.493C>T (p.Leu165=) | gnomAD v4 |
| 20 | g.44413754T>A | CA409105666 | HNF4A | c.380T>A (p.Leu127Gln) c.446T>A (p.Leu149Gln) c.420T>A n.422T>A n.1570T>A c.*213T>A (n.*213T>A) c.371T>A (p.Leu124Gln) c.425T>A (p.Leu142Gln) c.563T>A (p.Leu188Gln) c.494T>A (p.Leu165Gln) | |
| 20 | g.44413754T>C | CA409105669 | HNF4A | c.380T>C (p.Leu127Pro) c.446T>C (p.Leu149Pro) c.420T>C n.422T>C n.1570T>C c.*213T>C (n.*213T>C) c.371T>C (p.Leu124Pro) c.425T>C (p.Leu142Pro) c.563T>C (p.Leu188Pro) c.494T>C (p.Leu165Pro) | |
| 20 | g.44413754T>G | CA409105668 | HNF4A | c.380T>G (p.Leu127Arg) c.446T>G (p.Leu149Arg) c.420T>G n.422T>G n.1570T>G c.*213T>G (n.*213T>G) c.371T>G (p.Leu124Arg) c.425T>G (p.Leu142Arg) c.563T>G (p.Leu188Arg) c.494T>G (p.Leu165Arg) | |
| 20 | g.44413755G>A | CA213936 | HNF4A | c.381G>A (p.Leu127=) c.447G>A (p.Leu149=) c.421G>A n.423G>A n.1571G>A c.*214G>A (n.*214G>A) c.372G>A (p.Leu124=) c.426G>A (p.Leu142=) c.564G>A (p.Leu188=) c.495G>A (p.Leu165=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44413755G>C | CA510582615 | HNF4A | c.381G>C (p.Leu127=) c.447G>C (p.Leu149=) c.421G>C n.423G>C n.1571G>C c.*214G>C (n.*214G>C) c.372G>C (p.Leu124=) c.426G>C (p.Leu142=) c.564G>C (p.Leu188=) c.495G>C (p.Leu165=) | |
| 20 | g.44413755G= | CA2365761564 | HNF4A | c.381G= (p.Leu127=) c.447G= (p.Leu149=) c.421G= n.423G= n.1571G= c.*214G= (n.*214G=) c.372G= (p.Leu124=) c.426G= (p.Leu142=) c.564G= (p.Leu188=) c.495G= (p.Leu165=) | |
| 20 | g.44413755G>T | CA510582616 | HNF4A | c.381G>T (p.Leu127=) c.447G>T (p.Leu149=) c.421G>T n.423G>T n.1571G>T c.*214G>T (n.*214G>T) c.372G>T (p.Leu124=) c.426G>T (p.Leu142=) c.564G>T (p.Leu188=) c.495G>T (p.Leu165=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.44413756C>A | CA409105671 | HNF4A | c.382C>A (p.Pro128Thr) c.448C>A (p.Pro150Thr) c.422C>A n.424C>A n.1572C>A c.*215C>A (n.*215C>A) c.373C>A (p.Pro125Thr) c.427C>A (p.Pro143Thr) c.565C>A (p.Pro189Thr) c.496C>A (p.Pro166Thr) | |
| 20 | g.44413756C>G | CA409105673 | HNF4A | c.382C>G (p.Pro128Ala) c.448C>G (p.Pro150Ala) c.422C>G n.424C>G n.1572C>G c.*215C>G (n.*215C>G) c.373C>G (p.Pro125Ala) c.427C>G (p.Pro143Ala) c.565C>G (p.Pro189Ala) c.496C>G (p.Pro166Ala) | |
| 20 | g.44413756C>T | CA409105675 | HNF4A | c.382C>T (p.Pro128Ser) c.448C>T (p.Pro150Ser) c.422C>T n.424C>T n.1572C>T c.*215C>T (n.*215C>T) c.373C>T (p.Pro125Ser) c.427C>T (p.Pro143Ser) c.565C>T (p.Pro189Ser) c.496C>T (p.Pro166Ser) | |
| 20 | g.44413757C>A | CA409105676 | HNF4A | c.383C>A (p.Pro128His) c.449C>A (p.Pro150His) c.423C>A n.425C>A n.1573C>A c.*216C>A (n.*216C>A) c.374C>A (p.Pro125His) c.428C>A (p.Pro143His) c.566C>A (p.Pro189His) c.497C>A (p.Pro166His) | |
| 20 | g.44413757C>G | CA409105677 | HNF4A | c.383C>G (p.Pro128Arg) c.449C>G (p.Pro150Arg) c.423C>G n.425C>G n.1573C>G c.*216C>G (n.*216C>G) c.374C>G (p.Pro125Arg) c.428C>G (p.Pro143Arg) c.566C>G (p.Pro189Arg) c.497C>G (p.Pro166Arg) | |
| 20 | g.44413757C>T | CA409105679 | HNF4A | c.383C>T (p.Pro128Leu) c.449C>T (p.Pro150Leu) c.423C>T n.425C>T n.1573C>T c.*216C>T (n.*216C>T) c.374C>T (p.Pro125Leu) c.428C>T (p.Pro143Leu) c.566C>T (p.Pro189Leu) c.497C>T (p.Pro166Leu) | |
| 20 | g.44413758C>A | CA510582617 | HNF4A | c.384C>A (p.Pro128=) c.450C>A (p.Pro150=) c.424C>A n.426C>A n.1574C>A c.*217C>A (n.*217C>A) c.375C>A (p.Pro125=) c.429C>A (p.Pro143=) c.567C>A (p.Pro189=) c.498C>A (p.Pro166=) | |
| 20 | g.44413758C= | CA2365761565 | HNF4A | c.384C= (p.Pro128=) c.450C= (p.Pro150=) c.424C= n.426C= n.1574C= c.*217C= (n.*217C=) c.375C= (p.Pro125=) c.429C= (p.Pro143=) c.567C= (p.Pro189=) c.498C= (p.Pro166=) | |
| 20 | g.44413758C>G | CA9870236 | HNF4A | c.384C>G (p.Pro128=) c.450C>G (p.Pro150=) c.424C>G n.426C>G n.1574C>G c.*217C>G (n.*217C>G) c.375C>G (p.Pro125=) c.429C>G (p.Pro143=) c.567C>G (p.Pro189=) c.498C>G (p.Pro166=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44413758C>T | CA510582618 | HNF4A | c.384C>T (p.Pro128=) c.450C>T (p.Pro150=) c.424C>T n.426C>T n.1574C>T c.*217C>T (n.*217C>T) c.375C>T (p.Pro125=) c.429C>T (p.Pro143=) c.567C>T (p.Pro189=) c.498C>T (p.Pro166=) | |
| 20 | g.44413759T>A | CA409105682 | HNF4A | c.385T>A (p.Ser129Thr) c.451T>A (p.Ser151Thr) c.425T>A n.427T>A n.1575T>A c.*218T>A (n.*218T>A) c.376T>A (p.Ser126Thr) c.430T>A (p.Ser144Thr) c.568T>A (p.Ser190Thr) c.499T>A (p.Ser167Thr) | |
| 20 | g.44413759T>C | CA409105684 | HNF4A | c.385T>C (p.Ser129Pro) c.451T>C (p.Ser151Pro) c.425T>C n.427T>C n.1575T>C c.*218T>C (n.*218T>C) c.376T>C (p.Ser126Pro) c.430T>C (p.Ser144Pro) c.568T>C (p.Ser190Pro) c.499T>C (p.Ser167Pro) | gnomAD v4 |
| 20 | g.44413759T>G | CA409105686 | HNF4A | c.385T>G (p.Ser129Ala) c.451T>G (p.Ser151Ala) c.425T>G n.427T>G n.1575T>G c.*218T>G (n.*218T>G) c.376T>G (p.Ser126Ala) c.430T>G (p.Ser144Ala) c.568T>G (p.Ser190Ala) c.499T>G (p.Ser167Ala) | |
| 20 | g.44413760C>A | CA409105687 | HNF4A | c.386C>A (p.Ser129Tyr) c.452C>A (p.Ser151Tyr) c.426C>A n.428C>A n.1576C>A c.*219C>A (n.*219C>A) c.377C>A (p.Ser126Tyr) c.431C>A (p.Ser144Tyr) c.569C>A (p.Ser190Tyr) c.500C>A (p.Ser167Tyr) | |
| 20 | g.44413760C>G | CA409105690 | HNF4A | c.386C>G (p.Ser129Cys) c.452C>G (p.Ser151Cys) c.426C>G n.428C>G n.1576C>G c.*219C>G (n.*219C>G) c.377C>G (p.Ser126Cys) c.431C>G (p.Ser144Cys) c.569C>G (p.Ser190Cys) c.500C>G (p.Ser167Cys) | |
| 20 | g.44413760C>T | CA409105688 | HNF4A | c.386C>T (p.Ser129Phe) c.452C>T (p.Ser151Phe) c.426C>T n.428C>T n.1576C>T c.*219C>T (n.*219C>T) c.377C>T (p.Ser126Phe) c.431C>T (p.Ser144Phe) c.569C>T (p.Ser190Phe) c.500C>T (p.Ser167Phe) | |
| 20 | g.44413761C>A | CA510582619 | HNF4A | c.387C>A (p.Ser129=) c.453C>A (p.Ser151=) c.427C>A n.429C>A n.1577C>A c.*220C>A (n.*220C>A) c.378C>A (p.Ser126=) c.432C>A (p.Ser144=) c.570C>A (p.Ser190=) c.501C>A (p.Ser167=) | |
| 20 | g.44413761C>G | CA510582620 | HNF4A | c.387C>G (p.Ser129=) c.453C>G (p.Ser151=) c.427C>G n.429C>G n.1577C>G c.*220C>G (n.*220C>G) c.378C>G (p.Ser126=) c.432C>G (p.Ser144=) c.570C>G (p.Ser190=) c.501C>G (p.Ser167=) | |
| 20 | g.44413761C>T | CA510582621 | HNF4A | c.387C>T (p.Ser129=) c.453C>T (p.Ser151=) c.427C>T n.429C>T n.1577C>T c.*220C>T (n.*220C>T) c.378C>T (p.Ser126=) c.432C>T (p.Ser144=) c.570C>T (p.Ser190=) c.501C>T (p.Ser167=) | |
| 20 | g.44413762A>C | CA409105692 | HNF4A | c.388A>C (p.Ile130Leu) c.454A>C (p.Ile152Leu) c.428A>C n.430A>C n.1578A>C c.*221A>C (n.*221A>C) c.379A>C (p.Ile127Leu) c.433A>C (p.Ile145Leu) c.571A>C (p.Ile191Leu) c.502A>C (p.Ile168Leu) | |
| 20 | g.44413762A>G | CA409105695 | HNF4A | c.388A>G (p.Ile130Val) c.454A>G (p.Ile152Val) c.428A>G n.430A>G n.1578A>G c.*221A>G (n.*221A>G) c.379A>G (p.Ile127Val) c.433A>G (p.Ile145Val) c.571A>G (p.Ile191Val) c.502A>G (p.Ile168Val) | gnomAD v4 |
| 20 | g.44413762A>T | CA409105694 | HNF4A | c.388A>T (p.Ile130Phe) c.454A>T (p.Ile152Phe) c.428A>T n.430A>T n.1578A>T c.*221A>T (n.*221A>T) c.379A>T (p.Ile127Phe) c.433A>T (p.Ile145Phe) c.571A>T (p.Ile191Phe) c.502A>T (p.Ile168Phe) | COSMIC COSMIC COSMIC |
| 20 | g.44413763T>A | CA409105697 | HNF4A | c.389T>A (p.Ile130Asn) c.455T>A (p.Ile152Asn) c.429T>A n.431T>A n.1579T>A c.*222T>A (n.*222T>A) c.380T>A (p.Ile127Asn) c.434T>A (p.Ile145Asn) c.572T>A (p.Ile191Asn) c.503T>A (p.Ile168Asn) | |
| 20 | g.44413763T>C | CA409105699 | HNF4A | c.389T>C (p.Ile130Thr) c.455T>C (p.Ile152Thr) c.429T>C n.431T>C n.1579T>C c.*222T>C (n.*222T>C) c.380T>C (p.Ile127Thr) c.434T>C (p.Ile145Thr) c.572T>C (p.Ile191Thr) c.503T>C (p.Ile168Thr) | |
| 20 | g.44413763T>G | CA409105700 | HNF4A | c.389T>G (p.Ile130Ser) c.455T>G (p.Ile152Ser) c.429T>G n.431T>G n.1579T>G c.*222T>G (n.*222T>G) c.380T>G (p.Ile127Ser) c.434T>G (p.Ile145Ser) c.572T>G (p.Ile191Ser) c.503T>G (p.Ile168Ser) | |
| 20 | g.44413764C>A | CA510582623 | HNF4A | c.390C>A (p.Ile130=) c.456C>A (p.Ile152=) c.430C>A n.432C>A n.1580C>A c.*223C>A (n.*223C>A) c.381C>A (p.Ile127=) c.435C>A (p.Ile145=) c.573C>A (p.Ile191=) c.504C>A (p.Ile168=) | |
| 20 | g.44413764C>G | CA409105702 | HNF4A | c.390C>G (p.Ile130Met) c.456C>G (p.Ile152Met) c.430C>G n.432C>G n.1580C>G c.*223C>G (n.*223C>G) c.381C>G (p.Ile127Met) c.435C>G (p.Ile145Met) c.573C>G (p.Ile191Met) c.504C>G (p.Ile168Met) | |
| 20 | g.44413764C>T | CA510582622 | HNF4A | c.390C>T (p.Ile130=) c.456C>T (p.Ile152=) c.430C>T n.432C>T n.1580C>T c.*223C>T (n.*223C>T) c.381C>T (p.Ile127=) c.435C>T (p.Ile145=) c.573C>T (p.Ile191=) c.504C>T (p.Ile168=) | gnomAD v4 |
| 20 | g.44413765A= | CA2365761566 | HNF4A | c.391A= (p.Asn131=) c.457A= (p.Asn153=) c.431A= n.433A= n.1581A= c.*224A= (n.*224A=) c.382A= (p.Asn128=) c.436A= (p.Asn146=) c.574A= (p.Asn192=) c.505A= (p.Asn169=) | |
| 20 | g.44413765A>C | CA409105704 | HNF4A | c.391A>C (p.Asn131His) c.457A>C (p.Asn153His) c.431A>C n.433A>C n.1581A>C c.*224A>C (n.*224A>C) c.382A>C (p.Asn128His) c.436A>C (p.Asn146His) c.574A>C (p.Asn192His) c.505A>C (p.Asn169His) | |
| 20 | g.44413765A>G | CA409105706 | HNF4A | c.391A>G (p.Asn131Asp) c.457A>G (p.Asn153Asp) c.431A>G n.433A>G n.1581A>G c.*224A>G (n.*224A>G) c.382A>G (p.Asn128Asp) c.436A>G (p.Asn146Asp) c.574A>G (p.Asn192Asp) c.505A>G (p.Asn169Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44413765A>T | CA409105707 | HNF4A | c.391A>T (p.Asn131Tyr) c.457A>T (p.Asn153Tyr) c.431A>T n.433A>T n.1581A>T c.*224A>T (n.*224A>T) c.382A>T (p.Asn128Tyr) c.436A>T (p.Asn146Tyr) c.574A>T (p.Asn192Tyr) c.505A>T (p.Asn169Tyr) | |
| 20 | g.44413766A= | CA2365761567 | HNF4A | c.392A= (p.Asn131=) c.458A= (p.Asn153=) c.432A= n.434A= n.1582A= c.*225A= (n.*225A=) c.383A= (p.Asn128=) c.437A= (p.Asn146=) c.575A= (p.Asn192=) c.506A= (p.Asn169=) | |
| 20 | g.44413766A>C | CA409105709 | HNF4A | c.392A>C (p.Asn131Thr) c.458A>C (p.Asn153Thr) c.432A>C n.434A>C n.1582A>C c.*225A>C (n.*225A>C) c.383A>C (p.Asn128Thr) c.437A>C (p.Asn146Thr) c.575A>C (p.Asn192Thr) c.506A>C (p.Asn169Thr) | |
| 20 | g.44413766A>G | CA409105711 | HNF4A | c.392A>G (p.Asn131Ser) c.458A>G (p.Asn153Ser) c.432A>G n.434A>G n.1582A>G c.*225A>G (n.*225A>G) c.383A>G (p.Asn128Ser) c.437A>G (p.Asn146Ser) c.575A>G (p.Asn192Ser) c.506A>G (p.Asn169Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44413766A>T | CA409105713 | HNF4A | c.392A>T (p.Asn131Ile) c.458A>T (p.Asn153Ile) c.432A>T n.434A>T n.1582A>T c.*225A>T (n.*225A>T) c.383A>T (p.Asn128Ile) c.437A>T (p.Asn146Ile) c.575A>T (p.Asn192Ile) c.506A>T (p.Asn169Ile) | |
| 20 | g.44413767T>A | CA409105714 | HNF4A | c.393T>A (p.Asn131Lys) c.459T>A (p.Asn153Lys) c.433T>A n.435T>A n.1583T>A c.*226T>A (n.*226T>A) c.384T>A (p.Asn128Lys) c.438T>A (p.Asn146Lys) c.576T>A (p.Asn192Lys) c.507T>A (p.Asn169Lys) | |
| 20 | g.44413767T>C | CA213943 | HNF4A | c.393T>C (p.Asn131=) c.459T>C (p.Asn153=) c.433T>C n.435T>C n.1583T>C c.*226T>C (n.*226T>C) c.384T>C (p.Asn128=) c.438T>C (p.Asn146=) c.576T>C (p.Asn192=) c.507T>C (p.Asn169=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44413767T>G | CA409105717 | HNF4A | c.393T>G (p.Asn131Lys) c.459T>G (p.Asn153Lys) c.433T>G n.435T>G n.1583T>G c.*226T>G (n.*226T>G) c.384T>G (p.Asn128Lys) c.438T>G (p.Asn146Lys) c.576T>G (p.Asn192Lys) c.507T>G (p.Asn169Lys) | |
| 20 | g.44413767T= | CA2365761568 | HNF4A | c.393T= (p.Asn131=) c.459T= (p.Asn153=) c.433T= n.435T= n.1583T= c.*226T= (n.*226T=) c.384T= (p.Asn128=) c.438T= (p.Asn146=) c.576T= (p.Asn192=) c.507T= (p.Asn169=) | |
| 20 | g.44413768G>A | CA409105719 | HNF4A | c.394G>A (p.Ala132Thr) c.460G>A (p.Ala154Thr) c.434G>A n.436G>A n.1584G>A c.*227G>A (n.*227G>A) c.385G>A (p.Ala129Thr) c.439G>A (p.Ala147Thr) c.577G>A (p.Ala193Thr) c.508G>A (p.Ala170Thr) | gnomAD v4 |
| 20 | g.44413768G>C | CA409105722 | HNF4A | c.394G>C (p.Ala132Pro) c.460G>C (p.Ala154Pro) c.434G>C n.436G>C n.1584G>C c.*227G>C (n.*227G>C) c.385G>C (p.Ala129Pro) c.439G>C (p.Ala147Pro) c.577G>C (p.Ala193Pro) c.508G>C (p.Ala170Pro) | |
| 20 | g.44413768G>T | CA409105720 | HNF4A | c.394G>T (p.Ala132Ser) c.460G>T (p.Ala154Ser) c.434G>T n.436G>T n.1584G>T c.*227G>T (n.*227G>T) c.385G>T (p.Ala129Ser) c.439G>T (p.Ala147Ser) c.577G>T (p.Ala193Ser) c.508G>T (p.Ala170Ser) | gnomAD v4 |
| 20 | g.44413769C>A | CA9870238 | HNF4A | c.395C>A (p.Ala132Glu) c.461C>A (p.Ala154Glu) c.435C>A n.437C>A n.1585C>A c.*228C>A (n.*228C>A) c.386C>A (p.Ala129Glu) c.440C>A (p.Ala147Glu) c.578C>A (p.Ala193Glu) c.509C>A (p.Ala170Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44413769C= | CA2365761569 | HNF4A | c.395C= (p.Ala132=) c.461C= (p.Ala154=) c.435C= n.437C= n.1585C= c.*228C= (n.*228C=) c.386C= (p.Ala129=) c.440C= (p.Ala147=) c.578C= (p.Ala193=) c.509C= (p.Ala170=) | |
| 20 | g.44413769C>G | CA409105724 | HNF4A | c.395C>G (p.Ala132Gly) c.461C>G (p.Ala154Gly) c.435C>G n.437C>G n.1585C>G c.*228C>G (n.*228C>G) c.386C>G (p.Ala129Gly) c.440C>G (p.Ala147Gly) c.578C>G (p.Ala193Gly) c.509C>G (p.Ala170Gly) | |
| 20 | g.44413769C>T | CA9870237 | HNF4A | c.395C>T (p.Ala132Val) c.461C>T (p.Ala154Val) c.435C>T n.437C>T n.1585C>T c.*228C>T (n.*228C>T) c.386C>T (p.Ala129Val) c.440C>T (p.Ala147Val) c.578C>T (p.Ala193Val) c.509C>T (p.Ala170Val) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 20 | g.44413770G>A | CA9870239 | HNF4A | c.396G>A (p.Ala132=) c.462G>A (p.Ala154=) c.436G>A n.438G>A n.1586G>A c.*229G>A (n.*229G>A) c.387G>A (p.Ala129=) c.441G>A (p.Ala147=) c.579G>A (p.Ala193=) c.510G>A (p.Ala170=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44413770G>C | CA510582626 | HNF4A | c.396G>C (p.Ala132=) c.462G>C (p.Ala154=) c.436G>C n.438G>C n.1586G>C c.*229G>C (n.*229G>C) c.387G>C (p.Ala129=) c.441G>C (p.Ala147=) c.579G>C (p.Ala193=) c.510G>C (p.Ala170=) | gnomAD v4 |
| 20 | g.44413770G= | CA2365761570 | HNF4A | c.396G= (p.Ala132=) c.462G= (p.Ala154=) c.436G= n.438G= n.1586G= c.*229G= (n.*229G=) c.387G= (p.Ala129=) c.441G= (p.Ala147=) c.579G= (p.Ala193=) c.510G= (p.Ala170=) | |
| 20 | g.44413770G>T | CA510582625 | HNF4A | c.396G>T (p.Ala132=) c.462G>T (p.Ala154=) c.436G>T n.438G>T n.1586G>T c.*229G>T (n.*229G>T) c.387G>T (p.Ala129=) c.441G>T (p.Ala147=) c.579G>T (p.Ala193=) c.510G>T (p.Ala170=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44413771C>A | CA409105727 | HNF4A | c.397C>A (p.Leu133Ile) c.463C>A (p.Leu155Ile) c.437C>A n.439C>A n.1587C>A c.*230C>A (n.*230C>A) c.388C>A (p.Leu130Ile) c.442C>A (p.Leu148Ile) c.580C>A (p.Leu194Ile) c.511C>A (p.Leu171Ile) | |
| 20 | g.44413771C= | CA2365761571 | HNF4A | c.397C= (p.Leu133=) c.463C= (p.Leu155=) c.437C= n.439C= n.1587C= c.*230C= (n.*230C=) c.388C= (p.Leu130=) c.442C= (p.Leu148=) c.580C= (p.Leu194=) c.511C= (p.Leu171=) | |
| 20 | g.44413771C>G | CA409105729 | HNF4A | c.397C>G (p.Leu133Val) c.463C>G (p.Leu155Val) c.437C>G n.439C>G n.1587C>G c.*230C>G (n.*230C>G) c.388C>G (p.Leu130Val) c.442C>G (p.Leu148Val) c.580C>G (p.Leu194Val) c.511C>G (p.Leu171Val) | dbSNP |
| 20 | g.44413771C>T | CA409105730 | HNF4A | c.397C>T (p.Leu133Phe) c.463C>T (p.Leu155Phe) c.437C>T n.439C>T n.1587C>T c.*230C>T (n.*230C>T) c.388C>T (p.Leu130Phe) c.442C>T (p.Leu148Phe) c.580C>T (p.Leu194Phe) c.511C>T (p.Leu171Phe) | |
| 20 | g.44413772T>A | CA409105731 | HNF4A | c.398T>A (p.Leu133His) c.464T>A (p.Leu155His) c.438T>A n.440T>A n.1588T>A c.*231T>A (n.*231T>A) c.389T>A (p.Leu130His) c.443T>A (p.Leu148His) c.581T>A (p.Leu194His) c.512T>A (p.Leu171His) | |
| 20 | g.44413772T>C | CA409105732 | HNF4A | c.398T>C (p.Leu133Pro) c.464T>C (p.Leu155Pro) c.438T>C n.440T>C n.1588T>C c.*231T>C (n.*231T>C) c.389T>C (p.Leu130Pro) c.443T>C (p.Leu148Pro) c.581T>C (p.Leu194Pro) c.512T>C (p.Leu171Pro) | |
| 20 | g.44413772T>G | CA409105734 | HNF4A | c.398T>G (p.Leu133Arg) c.464T>G (p.Leu155Arg) c.438T>G n.440T>G n.1588T>G c.*231T>G (n.*231T>G) c.389T>G (p.Leu130Arg) c.443T>G (p.Leu148Arg) c.581T>G (p.Leu194Arg) c.512T>G (p.Leu171Arg) | |
| 20 | g.44413777_44413791del | CA2652972399 | HNF4A | c.403_417del (p.Gln135_Leu139del) c.469_483del (p.Gln157_Leu161del) c.443_457del n.445_459del n.1593_1607del c.*236_*250del (n.*236_*250del) c.394_408del (p.Gln132_Leu136del) c.448_462del (p.Gln150_Leu154del) c.586_600del (p.Gln196_Leu200del) c.517_531del (p.Gln173_Leu177del) | gnomAD v4 |
| 20 | g.44413773C>A | CA510582627 | HNF4A | c.399C>A (p.Leu133=) c.465C>A (p.Leu155=) c.439C>A n.441C>A n.1589C>A c.*232C>A (n.*232C>A) c.390C>A (p.Leu130=) c.444C>A (p.Leu148=) c.582C>A (p.Leu194=) c.513C>A (p.Leu171=) | dbSNP |
| 20 | g.44413773C= | CA2365761572 | HNF4A | c.399C= (p.Leu133=) c.465C= (p.Leu155=) c.439C= n.441C= n.1589C= c.*232C= (n.*232C=) c.390C= (p.Leu130=) c.444C= (p.Leu148=) c.582C= (p.Leu194=) c.513C= (p.Leu171=) | |
| 20 | g.44413773C>G | CA9870240 | HNF4A | c.399C>G (p.Leu133=) c.465C>G (p.Leu155=) c.439C>G n.441C>G n.1589C>G c.*232C>G (n.*232C>G) c.390C>G (p.Leu130=) c.444C>G (p.Leu148=) c.582C>G (p.Leu194=) c.513C>G (p.Leu171=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44413773C>T | CA510582628 | HNF4A | c.399C>T (p.Leu133=) c.465C>T (p.Leu155=) c.439C>T n.441C>T n.1589C>T c.*232C>T (n.*232C>T) c.390C>T (p.Leu130=) c.444C>T (p.Leu148=) c.582C>T (p.Leu194=) c.513C>T (p.Leu171=) | dbSNP |
| 20 | g.44413774C>A | CA409105736 | HNF4A | c.400C>A (p.Leu134Met) c.466C>A (p.Leu156Met) c.440C>A n.442C>A n.1590C>A c.*233C>A (n.*233C>A) c.391C>A (p.Leu131Met) c.445C>A (p.Leu149Met) c.583C>A (p.Leu195Met) c.514C>A (p.Leu172Met) | |
| 20 | g.44413774C>G | CA409105738 | HNF4A | c.400C>G (p.Leu134Val) c.466C>G (p.Leu156Val) c.440C>G n.442C>G n.1590C>G c.*233C>G (n.*233C>G) c.391C>G (p.Leu131Val) c.445C>G (p.Leu149Val) c.583C>G (p.Leu195Val) c.514C>G (p.Leu172Val) | |
| 20 | g.44413774C>T | CA510582629 | HNF4A | c.400C>T (p.Leu134=) c.466C>T (p.Leu156=) c.440C>T n.442C>T n.1590C>T c.*233C>T (n.*233C>T) c.391C>T (p.Leu131=) c.445C>T (p.Leu149=) c.583C>T (p.Leu195=) c.514C>T (p.Leu172=) | |
| 20 | g.44413775T>A | CA409105740 | HNF4A | c.401T>A (p.Leu134Gln) c.467T>A (p.Leu156Gln) c.441T>A n.443T>A n.1591T>A c.*234T>A (n.*234T>A) c.392T>A (p.Leu131Gln) c.446T>A (p.Leu149Gln) c.584T>A (p.Leu195Gln) c.515T>A (p.Leu172Gln) | |
| 20 | g.44413775T>C | CA409105742 | HNF4A | c.401T>C (p.Leu134Pro) c.467T>C (p.Leu156Pro) c.441T>C n.443T>C n.1591T>C c.*234T>C (n.*234T>C) c.392T>C (p.Leu131Pro) c.446T>C (p.Leu149Pro) c.584T>C (p.Leu195Pro) c.515T>C (p.Leu172Pro) | |
| 20 | g.44413775T>G | CA409105743 | HNF4A | c.401T>G (p.Leu134Arg) c.467T>G (p.Leu156Arg) c.441T>G n.443T>G n.1591T>G c.*234T>G (n.*234T>G) c.392T>G (p.Leu131Arg) c.446T>G (p.Leu149Arg) c.584T>G (p.Leu195Arg) c.515T>G (p.Leu172Arg) | gnomAD v4 |
| 20 | g.44413776G>A | CA9870241 | HNF4A | c.402G>A (p.Leu134=) c.468G>A (p.Leu156=) c.442G>A n.444G>A n.1592G>A c.*235G>A (n.*235G>A) c.393G>A (p.Leu131=) c.447G>A (p.Leu149=) c.585G>A (p.Leu195=) c.516G>A (p.Leu172=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44413776G>C | CA510582630 | HNF4A | c.402G>C (p.Leu134=) c.468G>C (p.Leu156=) c.442G>C n.444G>C n.1592G>C c.*235G>C (n.*235G>C) c.393G>C (p.Leu131=) c.447G>C (p.Leu149=) c.585G>C (p.Leu195=) c.516G>C (p.Leu172=) | |
| 20 | g.44413776G= | CA2365761573 | HNF4A | c.402G= (p.Leu134=) c.468G= (p.Leu156=) c.442G= n.444G= n.1592G= c.*235G= (n.*235G=) c.393G= (p.Leu131=) c.447G= (p.Leu149=) c.585G= (p.Leu195=) c.516G= (p.Leu172=) | |
| 20 | g.44413776G>T | CA510582631 | HNF4A | c.402G>T (p.Leu134=) c.468G>T (p.Leu156=) c.442G>T n.444G>T n.1592G>T c.*235G>T (n.*235G>T) c.393G>T (p.Leu131=) c.447G>T (p.Leu149=) c.585G>T (p.Leu195=) c.516G>T (p.Leu172=) | |
| 20 | g.44413777C>A | CA409105746 | HNF4A | c.403C>A (p.Gln135Lys) c.469C>A (p.Gln157Lys) c.443C>A n.445C>A n.1593C>A c.*236C>A (n.*236C>A) c.394C>A (p.Gln132Lys) c.448C>A (p.Gln150Lys) c.586C>A (p.Gln196Lys) c.517C>A (p.Gln173Lys) | |
| 20 | g.44413777C= | CA2365761574 | HNF4A | c.403C= (p.Gln135=) c.469C= (p.Gln157=) c.443C= n.445C= n.1593C= c.*236C= (n.*236C=) c.394C= (p.Gln132=) c.448C= (p.Gln150=) c.586C= (p.Gln196=) c.517C= (p.Gln173=) | |
| 20 | g.44413777C>G | CA409105747 | HNF4A | c.403C>G (p.Gln135Glu) c.469C>G (p.Gln157Glu) c.443C>G n.445C>G n.1593C>G c.*236C>G (n.*236C>G) c.394C>G (p.Gln132Glu) c.448C>G (p.Gln150Glu) c.586C>G (p.Gln196Glu) c.517C>G (p.Gln173Glu) | |
| 20 | g.44413777C>T | CA409105749 | HNF4A | c.403C>T (p.Gln135Ter) c.469C>T (p.Gln157Ter) c.443C>T n.445C>T n.1593C>T c.*236C>T (n.*236C>T) c.394C>T (p.Gln132Ter) c.448C>T (p.Gln150Ter) c.586C>T (p.Gln196Ter) c.517C>T (p.Gln173Ter) | ClinVar dbSNP |
| 20 | g.44413778A>C | CA409105751 | HNF4A | c.404A>C (p.Gln135Pro) c.470A>C (p.Gln157Pro) c.444A>C n.446A>C n.1594A>C c.*237A>C (n.*237A>C) c.395A>C (p.Gln132Pro) c.449A>C (p.Gln150Pro) c.587A>C (p.Gln196Pro) c.518A>C (p.Gln173Pro) | |
| 20 | g.44413778A>G | CA409105753 | HNF4A | c.404A>G (p.Gln135Arg) c.470A>G (p.Gln157Arg) c.444A>G n.446A>G n.1594A>G c.*237A>G (n.*237A>G) c.395A>G (p.Gln132Arg) c.449A>G (p.Gln150Arg) c.587A>G (p.Gln196Arg) c.518A>G (p.Gln173Arg) | |
| 20 | g.44413778A>T | CA409105754 | HNF4A | c.404A>T (p.Gln135Leu) c.470A>T (p.Gln157Leu) c.444A>T n.446A>T n.1594A>T c.*237A>T (n.*237A>T) c.395A>T (p.Gln132Leu) c.449A>T (p.Gln150Leu) c.587A>T (p.Gln196Leu) c.518A>T (p.Gln173Leu) | |
| 20 | g.44413779G>A | CA510582632 | HNF4A | c.405G>A (p.Gln135=) c.471G>A (p.Gln157=) c.445G>A n.447G>A n.1595G>A c.*238G>A (n.*238G>A) c.396G>A (p.Gln132=) c.450G>A (p.Gln150=) c.588G>A (p.Gln196=) c.519G>A (p.Gln173=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.44413779G>C | CA409105756 | HNF4A | c.405G>C (p.Gln135His) c.471G>C (p.Gln157His) c.445G>C n.447G>C n.1595G>C c.*238G>C (n.*238G>C) c.396G>C (p.Gln132His) c.450G>C (p.Gln150His) c.588G>C (p.Gln196His) c.519G>C (p.Gln173His) | |
| 20 | g.44413779G= | CA2365761575 | HNF4A | c.405G= (p.Gln135=) c.471G= (p.Gln157=) c.445G= n.447G= n.1595G= c.*238G= (n.*238G=) c.396G= (p.Gln132=) c.450G= (p.Gln150=) c.588G= (p.Gln196=) c.519G= (p.Gln173=) | |
| 20 | g.44413779G>T | CA409105757 | HNF4A | c.405G>T (p.Gln135His) c.471G>T (p.Gln157His) c.445G>T n.447G>T n.1595G>T c.*238G>T (n.*238G>T) c.396G>T (p.Gln132His) c.450G>T (p.Gln150His) c.588G>T (p.Gln196His) c.519G>T (p.Gln173His) | |
| 20 | g.44413780G>A | CA409105763 | HNF4A | c.406G>A (p.Ala136Thr) c.472G>A (p.Ala158Thr) c.446G>A n.448G>A n.1596G>A c.*239G>A (n.*239G>A) c.397G>A (p.Ala133Thr) c.451G>A (p.Ala151Thr) c.589G>A (p.Ala197Thr) c.520G>A (p.Ala174Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44413780G>C | CA409105761 | HNF4A | c.406G>C (p.Ala136Pro) c.472G>C (p.Ala158Pro) c.446G>C n.448G>C n.1596G>C c.*239G>C (n.*239G>C) c.397G>C (p.Ala133Pro) c.451G>C (p.Ala151Pro) c.589G>C (p.Ala197Pro) c.520G>C (p.Ala174Pro) | |
| 20 | g.44413780G= | CA2365761576 | HNF4A | c.406G= (p.Ala136=) c.472G= (p.Ala158=) c.446G= n.448G= n.1596G= c.*239G= (n.*239G=) c.397G= (p.Ala133=) c.451G= (p.Ala151=) c.589G= (p.Ala197=) c.520G= (p.Ala174=) | |
| 20 | g.44413780G>T | CA409105759 | HNF4A | c.406G>T (p.Ala136Ser) c.472G>T (p.Ala158Ser) c.446G>T n.448G>T n.1596G>T c.*239G>T (n.*239G>T) c.397G>T (p.Ala133Ser) c.451G>T (p.Ala151Ser) c.589G>T (p.Ala197Ser) c.520G>T (p.Ala174Ser) | |
| 20 | g.44413781C>A | CA409105764 | HNF4A | c.407C>A (p.Ala136Glu) c.473C>A (p.Ala158Glu) c.447C>A n.449C>A n.1597C>A c.*240C>A (n.*240C>A) c.398C>A (p.Ala133Glu) c.452C>A (p.Ala151Glu) c.590C>A (p.Ala197Glu) c.521C>A (p.Ala174Glu) | |
| 20 | g.44413781C= | CA2365761577 | HNF4A | c.407C= (p.Ala136=) c.473C= (p.Ala158=) c.447C= n.449C= n.1597C= c.*240C= (n.*240C=) c.398C= (p.Ala133=) c.452C= (p.Ala151=) c.590C= (p.Ala197=) c.521C= (p.Ala174=) | |
| 20 | g.44413781C>G | CA409105766 | HNF4A | c.407C>G (p.Ala136Gly) c.473C>G (p.Ala158Gly) c.447C>G n.449C>G n.1597C>G c.*240C>G (n.*240C>G) c.398C>G (p.Ala133Gly) c.452C>G (p.Ala151Gly) c.590C>G (p.Ala197Gly) c.521C>G (p.Ala174Gly) | |
| 20 | g.44413781C>T | CA9870242 | HNF4A | c.407C>T (p.Ala136Val) c.473C>T (p.Ala158Val) c.447C>T n.449C>T n.1597C>T c.*240C>T (n.*240C>T) c.398C>T (p.Ala133Val) c.452C>T (p.Ala151Val) c.590C>T (p.Ala197Val) c.521C>T (p.Ala174Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 20 | g.44413782G>A | CA9870243 | HNF4A | c.408G>A (p.Ala136=) c.474G>A (p.Ala158=) c.448G>A n.450G>A n.1598G>A c.*241G>A (n.*241G>A) c.399G>A (p.Ala133=) c.453G>A (p.Ala151=) c.591G>A (p.Ala197=) c.522G>A (p.Ala174=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44413782G>C | CA510582633 | HNF4A | c.408G>C (p.Ala136=) c.474G>C (p.Ala158=) c.448G>C n.450G>C n.1598G>C c.*241G>C (n.*241G>C) c.399G>C (p.Ala133=) c.453G>C (p.Ala151=) c.591G>C (p.Ala197=) c.522G>C (p.Ala174=) | |
| 20 | g.44413782G= | CA2365761578 | HNF4A | c.408G= (p.Ala136=) c.474G= (p.Ala158=) c.448G= n.450G= n.1598G= c.*241G= (n.*241G=) c.399G= (p.Ala133=) c.453G= (p.Ala151=) c.591G= (p.Ala197=) c.522G= (p.Ala174=) | |
| 20 | g.44413782G>T | CA510582634 | HNF4A | c.408G>T (p.Ala136=) c.474G>T (p.Ala158=) c.448G>T n.450G>T n.1598G>T c.*241G>T (n.*241G>T) c.399G>T (p.Ala133=) c.453G>T (p.Ala151=) c.591G>T (p.Ala197=) c.522G>T (p.Ala174=) | |
| 20 | g.44413783G>A | CA409105769 | HNF4A | c.409G>A (p.Glu137Lys) c.475G>A (p.Glu159Lys) c.449G>A n.451G>A n.1599G>A c.*242G>A (n.*242G>A) c.400G>A (p.Glu134Lys) c.454G>A (p.Glu152Lys) c.592G>A (p.Glu198Lys) c.523G>A (p.Glu175Lys) | |
| 20 | g.44413783G>C | CA409105771 | HNF4A | c.409G>C (p.Glu137Gln) c.475G>C (p.Glu159Gln) c.449G>C n.451G>C n.1599G>C c.*242G>C (n.*242G>C) c.400G>C (p.Glu134Gln) c.454G>C (p.Glu152Gln) c.592G>C (p.Glu198Gln) c.523G>C (p.Glu175Gln) | |
| 20 | g.44413783G>T | CA409105773 | HNF4A | c.409G>T (p.Glu137Ter) c.475G>T (p.Glu159Ter) c.449G>T n.451G>T n.1599G>T c.*242G>T (n.*242G>T) c.400G>T (p.Glu134Ter) c.454G>T (p.Glu152Ter) c.592G>T (p.Glu198Ter) c.523G>T (p.Glu175Ter) | |
| 20 | g.44413784A= | CA2365761579 | HNF4A | c.410A= (p.Glu137=) c.476A= (p.Glu159=) c.450A= n.452A= n.1600A= c.*243A= (n.*243A=) c.401A= (p.Glu134=) c.455A= (p.Glu152=) c.593A= (p.Glu198=) c.524A= (p.Glu175=) | |
| 20 | g.44413784A>C | CA409105774 | HNF4A | c.410A>C (p.Glu137Ala) c.476A>C (p.Glu159Ala) c.450A>C n.452A>C n.1600A>C c.*243A>C (n.*243A>C) c.401A>C (p.Glu134Ala) c.455A>C (p.Glu152Ala) c.593A>C (p.Glu198Ala) c.524A>C (p.Glu175Ala) | |
| 20 | g.44413784A>G | CA409105776 | HNF4A | c.410A>G (p.Glu137Gly) c.476A>G (p.Glu159Gly) c.450A>G n.452A>G n.1600A>G c.*243A>G (n.*243A>G) c.401A>G (p.Glu134Gly) c.455A>G (p.Glu152Gly) c.593A>G (p.Glu198Gly) c.524A>G (p.Glu175Gly) | |
| 20 | g.44413784A>T | CA409105778 | HNF4A | c.410A>T (p.Glu137Val) c.476A>T (p.Glu159Val) c.450A>T n.452A>T n.1600A>T c.*243A>T (n.*243A>T) c.401A>T (p.Glu134Val) c.455A>T (p.Glu152Val) c.593A>T (p.Glu198Val) c.524A>T (p.Glu175Val) | dbSNP |
| 20 | g.44413785G>A | CA510582635 | HNF4A | c.411G>A (p.Glu137=) c.477G>A (p.Glu159=) c.451G>A n.453G>A n.1601G>A c.*244G>A (n.*244G>A) c.402G>A (p.Glu134=) c.456G>A (p.Glu152=) c.594G>A (p.Glu198=) c.525G>A (p.Glu175=) | |
| 20 | g.44413785G>C | CA409105779 | HNF4A | c.411G>C (p.Glu137Asp) c.477G>C (p.Glu159Asp) c.451G>C n.453G>C n.1601G>C c.*244G>C (n.*244G>C) c.402G>C (p.Glu134Asp) c.456G>C (p.Glu152Asp) c.594G>C (p.Glu198Asp) c.525G>C (p.Glu175Asp) | |
| 20 | g.44413785G>T | CA409105781 | HNF4A | c.411G>T (p.Glu137Asp) c.477G>T (p.Glu159Asp) c.451G>T n.453G>T n.1601G>T c.*244G>T (n.*244G>T) c.402G>T (p.Glu134Asp) c.456G>T (p.Glu152Asp) c.594G>T (p.Glu198Asp) c.525G>T (p.Glu175Asp) | |
| 20 | g.44413786G>A | CA409105782 | HNF4A | c.412G>A (p.Val138Ile) c.478G>A (p.Val160Ile) c.452G>A n.454G>A n.1602G>A c.*245G>A (n.*245G>A) c.403G>A (p.Val135Ile) c.457G>A (p.Val153Ile) c.595G>A (p.Val199Ile) c.526G>A (p.Val176Ile) | |
| 20 | g.44413786G>C | CA409105786 | HNF4A | c.412G>C (p.Val138Leu) c.478G>C (p.Val160Leu) c.452G>C n.454G>C n.1602G>C c.*245G>C (n.*245G>C) c.403G>C (p.Val135Leu) c.457G>C (p.Val153Leu) c.595G>C (p.Val199Leu) c.526G>C (p.Val176Leu) | |
| 20 | g.44413786G= | CA2365761580 | HNF4A | c.412G= (p.Val138=) c.478G= (p.Val160=) c.452G= n.454G= n.1602G= c.*245G= (n.*245G=) c.403G= (p.Val135=) c.457G= (p.Val153=) c.595G= (p.Val199=) c.526G= (p.Val176=) | |
| 20 | g.44413786G>T | CA409105784 | HNF4A | c.412G>T (p.Val138Phe) c.478G>T (p.Val160Phe) c.452G>T n.454G>T n.1602G>T c.*245G>T (n.*245G>T) c.403G>T (p.Val135Phe) c.457G>T (p.Val153Phe) c.595G>T (p.Val199Phe) c.526G>T (p.Val176Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44413787T>A | CA409105788 | HNF4A | c.413T>A (p.Val138Asp) c.479T>A (p.Val160Asp) c.453T>A n.455T>A n.1603T>A c.*246T>A (n.*246T>A) c.404T>A (p.Val135Asp) c.458T>A (p.Val153Asp) c.596T>A (p.Val199Asp) c.527T>A (p.Val176Asp) | |
| 20 | g.44413787T>C | CA409105791 | HNF4A | c.413T>C (p.Val138Ala) c.479T>C (p.Val160Ala) c.453T>C n.455T>C n.1603T>C c.*246T>C (n.*246T>C) c.404T>C (p.Val135Ala) c.458T>C (p.Val153Ala) c.596T>C (p.Val199Ala) c.527T>C (p.Val176Ala) | |
| 20 | g.44413787T>G | CA409105789 | HNF4A | c.413T>G (p.Val138Gly) c.479T>G (p.Val160Gly) c.453T>G n.455T>G n.1603T>G c.*246T>G (n.*246T>G) c.404T>G (p.Val135Gly) c.458T>G (p.Val153Gly) c.596T>G (p.Val199Gly) c.527T>G (p.Val176Gly) | dbSNP |
| 20 | g.44413787T= | CA2365761581 | HNF4A | c.413T= (p.Val138=) c.479T= (p.Val160=) c.453T= n.455T= n.1603T= c.*246T= (n.*246T=) c.404T= (p.Val135=) c.458T= (p.Val153=) c.596T= (p.Val199=) c.527T= (p.Val176=) | |
| 20 | g.44413788C>A | CA510582636 | HNF4A | c.414C>A (p.Val138=) c.480C>A (p.Val160=) c.454C>A n.456C>A n.1604C>A c.*247C>A (n.*247C>A) c.405C>A (p.Val135=) c.459C>A (p.Val153=) c.597C>A (p.Val199=) c.528C>A (p.Val176=) | |
| 20 | g.44413788C>G | CA510582637 | HNF4A | c.414C>G (p.Val138=) c.480C>G (p.Val160=) c.454C>G n.456C>G n.1604C>G c.*247C>G (n.*247C>G) c.405C>G (p.Val135=) c.459C>G (p.Val153=) c.597C>G (p.Val199=) c.528C>G (p.Val176=) | |
| 20 | g.44413788C>T | CA510582638 | HNF4A | c.414C>T (p.Val138=) c.480C>T (p.Val160=) c.454C>T n.456C>T n.1604C>T c.*247C>T (n.*247C>T) c.405C>T (p.Val135=) c.459C>T (p.Val153=) c.597C>T (p.Val199=) c.528C>T (p.Val176=) | |
| 20 | g.44413789C>A | CA409105792 | HNF4A | c.415C>A (p.Leu139Met) c.481C>A (p.Leu161Met) c.455C>A n.457C>A n.1605C>A c.*248C>A (n.*248C>A) c.406C>A (p.Leu136Met) c.460C>A (p.Leu154Met) c.598C>A (p.Leu200Met) c.529C>A (p.Leu177Met) | |
| 20 | g.44413789C>G | CA409105794 | HNF4A | c.415C>G (p.Leu139Val) c.481C>G (p.Leu161Val) c.455C>G n.457C>G n.1605C>G c.*248C>G (n.*248C>G) c.406C>G (p.Leu136Val) c.460C>G (p.Leu154Val) c.598C>G (p.Leu200Val) c.529C>G (p.Leu177Val) | |
| 20 | g.44413789C>T | CA510582639 | HNF4A | c.415C>T (p.Leu139=) c.481C>T (p.Leu161=) c.455C>T n.457C>T n.1605C>T c.*248C>T (n.*248C>T) c.406C>T (p.Leu136=) c.460C>T (p.Leu154=) c.598C>T (p.Leu200=) c.529C>T (p.Leu177=) | |
| 20 | g.44413790T>A | CA409105796 | HNF4A | c.416T>A (p.Leu139Gln) c.482T>A (p.Leu161Gln) c.456T>A n.458T>A n.1606T>A c.*249T>A (n.*249T>A) c.407T>A (p.Leu136Gln) c.461T>A (p.Leu154Gln) c.599T>A (p.Leu200Gln) c.530T>A (p.Leu177Gln) | |
| 20 | g.44413790T>C | CA409105799 | HNF4A | c.416T>C (p.Leu139Pro) c.482T>C (p.Leu161Pro) c.456T>C n.458T>C n.1606T>C c.*249T>C (n.*249T>C) c.407T>C (p.Leu136Pro) c.461T>C (p.Leu154Pro) c.599T>C (p.Leu200Pro) c.530T>C (p.Leu177Pro) | |
| 20 | g.44413790T>G | CA409105797 | HNF4A | c.416T>G (p.Leu139Arg) c.482T>G (p.Leu161Arg) c.456T>G n.458T>G n.1606T>G c.*249T>G (n.*249T>G) c.407T>G (p.Leu136Arg) c.461T>G (p.Leu154Arg) c.599T>G (p.Leu200Arg) c.530T>G (p.Leu177Arg) | gnomAD v4 |
| 20 | g.44413790_44413791delinsTG | CA2365761582 | HNF4A | c.416_417delinsTG (p.Leu139=) c.482_483delinsTG (p.Leu161=) c.456_457delinsTG n.458_459delinsTG n.1606_1607delinsTG c.*249_*250delinsTG (n.*249_*250delinsTG) c.407_408delinsTG (p.Leu136=) c.461_462delinsTG (p.Leu154=) c.599_600delinsTG (p.Leu200=) c.530_531delinsTG (p.Leu177=) | |
| 20 | g.44413791del | CA635972038 | HNF4A | c.417del (p.Ser140ProfsTer?) c.483del (p.Ser162ProfsTer?) c.457del n.459del n.1607del c.*250del (n.*250del) c.408del (p.Ser137ProfsTer?) c.462del (p.Ser155ProfsTer?) c.600del (p.Ser201ProfsTer?) c.531del (p.Ser178ProfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44413791G>A | CA510582642 | HNF4A | c.417G>A (p.Leu139=) c.483G>A (p.Leu161=) c.457G>A n.459G>A n.1607G>A c.*250G>A (n.*250G>A) c.408G>A (p.Leu136=) c.462G>A (p.Leu154=) c.600G>A (p.Leu200=) c.531G>A (p.Leu177=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44413791G>C | CA510582641 | HNF4A | c.417G>C (p.Leu139=) c.483G>C (p.Leu161=) c.457G>C n.459G>C n.1607G>C c.*250G>C (n.*250G>C) c.408G>C (p.Leu136=) c.462G>C (p.Leu154=) c.600G>C (p.Leu200=) c.531G>C (p.Leu177=) | gnomAD v4 COSMIC COSMIC COSMIC |
| 20 | g.44413791G= | CA2365761583 | HNF4A | c.417G= (p.Leu139=) c.483G= (p.Leu161=) c.457G= n.459G= n.1607G= c.*250G= (n.*250G=) c.408G= (p.Leu136=) c.462G= (p.Leu154=) c.600G= (p.Leu200=) c.531G= (p.Leu177=) | |
| 20 | g.44413791G>T | CA510582640 | HNF4A | c.417G>T (p.Leu139=) c.483G>T (p.Leu161=) c.457G>T n.459G>T n.1607G>T c.*250G>T (n.*250G>T) c.408G>T (p.Leu136=) c.462G>T (p.Leu154=) c.600G>T (p.Leu200=) c.531G>T (p.Leu177=) | |
| 20 | g.44413792T>A | CA409105801 | HNF4A | c.418T>A (p.Ser140Thr) c.484T>A (p.Ser162Thr) c.458T>A n.460T>A n.1608T>A c.*251T>A (n.*251T>A) c.409T>A (p.Ser137Thr) c.463T>A (p.Ser155Thr) c.601T>A (p.Ser201Thr) c.532T>A (p.Ser178Thr) | |
| 20 | g.44413792T>C | CA409105803 | HNF4A | c.418T>C (p.Ser140Pro) c.484T>C (p.Ser162Pro) c.458T>C n.460T>C n.1608T>C c.*251T>C (n.*251T>C) c.409T>C (p.Ser137Pro) c.463T>C (p.Ser155Pro) c.601T>C (p.Ser201Pro) c.532T>C (p.Ser178Pro) | |
| 20 | g.44413792T>G | CA409105804 | HNF4A | c.418T>G (p.Ser140Ala) c.484T>G (p.Ser162Ala) c.458T>G n.460T>G n.1608T>G c.*251T>G (n.*251T>G) c.409T>G (p.Ser137Ala) c.463T>G (p.Ser155Ala) c.601T>G (p.Ser201Ala) c.532T>G (p.Ser178Ala) | |
| 20 | g.44413793C>A | CA409105806 | HNF4A | c.419C>A (p.Ser140Tyr) c.485C>A (p.Ser162Tyr) c.459C>A n.461C>A n.1609C>A c.*252C>A (n.*252C>A) c.410C>A (p.Ser137Tyr) c.464C>A (p.Ser155Tyr) c.602C>A (p.Ser201Tyr) c.533C>A (p.Ser178Tyr) | gnomAD v4 |
| 20 | g.44413793C>G | CA409105808 | HNF4A | c.419C>G (p.Ser140Cys) c.485C>G (p.Ser162Cys) c.459C>G n.461C>G n.1609C>G c.*252C>G (n.*252C>G) c.410C>G (p.Ser137Cys) c.464C>G (p.Ser155Cys) c.602C>G (p.Ser201Cys) c.533C>G (p.Ser178Cys) | |
| 20 | g.44413793C>T | CA409105809 | HNF4A | c.419C>T (p.Ser140Phe) c.485C>T (p.Ser162Phe) c.459C>T n.461C>T n.1609C>T c.*252C>T (n.*252C>T) c.410C>T (p.Ser137Phe) c.464C>T (p.Ser155Phe) c.602C>T (p.Ser201Phe) c.533C>T (p.Ser178Phe) | gnomAD v4 |
| 20 | g.44413795del | CA2573106197 | HNF4A | c.421del (p.Arg141AspfsTer29) c.487del (p.Arg163AspfsTer29) c.461del n.463del n.1611del c.*254del (n.*254del) c.412del (p.Arg138AspfsTer29) c.466del (p.Arg156AspfsTer29) c.604del (p.Arg202AspfsTer29) c.535del (p.Arg179AspfsTer29) | ClinVar |
| 20 | g.44413794C>A | CA510582645 | HNF4A | c.420C>A (p.Ser140=) c.486C>A (p.Ser162=) c.460C>A n.462C>A n.1610C>A c.*253C>A (n.*253C>A) c.411C>A (p.Ser137=) c.465C>A (p.Ser155=) c.603C>A (p.Ser201=) c.534C>A (p.Ser178=) | |
| 20 | g.44413794C= | CA2365761584 | HNF4A | c.420C= (p.Ser140=) c.486C= (p.Ser162=) c.460C= n.462C= n.1610C= c.*253C= (n.*253C=) c.411C= (p.Ser137=) c.465C= (p.Ser155=) c.603C= (p.Ser201=) c.534C= (p.Ser178=) | |
| 20 | g.44413794C>G | CA510582644 | HNF4A | c.420C>G (p.Ser140=) c.486C>G (p.Ser162=) c.460C>G n.462C>G n.1610C>G c.*253C>G (n.*253C>G) c.411C>G (p.Ser137=) c.465C>G (p.Ser155=) c.603C>G (p.Ser201=) c.534C>G (p.Ser178=) | |
| 20 | g.44413794C>T | CA510582643 | HNF4A | c.420C>T (p.Ser140=) c.486C>T (p.Ser162=) c.460C>T n.462C>T n.1610C>T c.*253C>T (n.*253C>T) c.411C>T (p.Ser137=) c.465C>T (p.Ser155=) c.603C>T (p.Ser201=) c.534C>T (p.Ser178=) | dbSNP gnomAD v4 |
| 20 | g.44413795C>A | CA510582646 | HNF4A | c.421C>A (p.Arg141=) c.487C>A (p.Arg163=) c.461C>A n.463C>A n.1611C>A c.*254C>A (n.*254C>A) c.412C>A (p.Arg138=) c.466C>A (p.Arg156=) c.604C>A (p.Arg202=) c.535C>A (p.Arg179=) | |
| 20 | g.44413795C= | CA2365761585 | HNF4A | c.421C= (p.Arg141=) c.487C= (p.Arg163=) c.461C= n.463C= n.1611C= c.*254C= (n.*254C=) c.412C= (p.Arg138=) c.466C= (p.Arg156=) c.604C= (p.Arg202=) c.535C= (p.Arg179=) | |
| 20 | g.44413795C>G | CA409105811 | HNF4A | c.421C>G (p.Arg141Gly) c.487C>G (p.Arg163Gly) c.461C>G n.463C>G n.1611C>G c.*254C>G (n.*254C>G) c.412C>G (p.Arg138Gly) c.466C>G (p.Arg156Gly) c.604C>G (p.Arg202Gly) c.535C>G (p.Arg179Gly) | COSMIC COSMIC COSMIC |
| 20 | g.44413795C>T | CA120194 | HNF4A | c.421C>T (p.Arg141Ter) c.487C>T (p.Arg163Ter) c.461C>T n.463C>T n.1611C>T c.*254C>T (n.*254C>T) c.412C>T (p.Arg138Ter) c.466C>T (p.Arg156Ter) c.604C>T (p.Arg202Ter) c.535C>T (p.Arg179Ter) | ClinVar dbSNP |