| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.44419718C= | CA2365764279 | HNF4A | c.671-3C= (n.671-3C=) c.737-3C= (n.737-3C=) c.711-3C= n.713-3C= n.1861-3C= c.*504-3C= (n.*504-3C=) c.662-3C= (n.662-3C=) c.716-3C= (n.716-3C=) c.854-3C= (n.854-3C=) c.785-3C= (n.785-3C=) | |
| 20 | g.44419718C>T | CA2365764278 | HNF4A | c.671-3C>T (n.671-3C>T) c.737-3C>T (n.737-3C>T) c.711-3C>T n.713-3C>T n.1861-3C>T c.*504-3C>T (n.*504-3C>T) c.662-3C>T (n.662-3C>T) c.716-3C>T (n.716-3C>T) c.854-3C>T (n.854-3C>T) c.785-3C>T (n.785-3C>T) | dbSNP gnomAD v4 |
| 20 | g.44419719A>C | CA409107307 | HNF4A | c.671-2A>C (n.671-2A>C) c.737-2A>C (n.737-2A>C) c.711-2A>C n.713-2A>C n.1861-2A>C c.*504-2A>C (n.*504-2A>C) c.662-2A>C (n.662-2A>C) c.716-2A>C (n.716-2A>C) c.854-2A>C (n.854-2A>C) c.785-2A>C (n.785-2A>C) | gnomAD v4 |
| 20 | g.44419719A>G | CA409107308 | HNF4A | c.671-2A>G (n.671-2A>G) c.737-2A>G (n.737-2A>G) c.711-2A>G n.713-2A>G n.1861-2A>G c.*504-2A>G (n.*504-2A>G) c.662-2A>G (n.662-2A>G) c.716-2A>G (n.716-2A>G) c.854-2A>G (n.854-2A>G) c.785-2A>G (n.785-2A>G) | gnomAD v4 |
| 20 | g.44419719A>T | CA409107309 | HNF4A | c.671-2A>T (n.671-2A>T) c.737-2A>T (n.737-2A>T) c.711-2A>T n.713-2A>T n.1861-2A>T c.*504-2A>T (n.*504-2A>T) c.662-2A>T (n.662-2A>T) c.716-2A>T (n.716-2A>T) c.854-2A>T (n.854-2A>T) c.785-2A>T (n.785-2A>T) | |
| 20 | g.44419720G>A | CA409107310 | HNF4A | c.671-1G>A (n.671-1G>A) c.737-1G>A (n.737-1G>A) c.711-1G>A n.713-1G>A n.1861-1G>A c.*504-1G>A (n.*504-1G>A) c.662-1G>A (n.662-1G>A) c.716-1G>A (n.716-1G>A) c.854-1G>A (n.854-1G>A) c.785-1G>A (n.785-1G>A) | |
| 20 | g.44419720G>C | CA409107312 | HNF4A | c.671-1G>C (n.671-1G>C) c.737-1G>C (n.737-1G>C) c.711-1G>C n.713-1G>C n.1861-1G>C c.*504-1G>C (n.*504-1G>C) c.662-1G>C (n.662-1G>C) c.716-1G>C (n.716-1G>C) c.854-1G>C (n.854-1G>C) c.785-1G>C (n.785-1G>C) | gnomAD v4 |
| 20 | g.44419720G>T | CA409107311 | HNF4A | c.671-1G>T (n.671-1G>T) c.737-1G>T (n.737-1G>T) c.711-1G>T n.713-1G>T n.1861-1G>T c.*504-1G>T (n.*504-1G>T) c.662-1G>T (n.662-1G>T) c.716-1G>T (n.716-1G>T) c.854-1G>T (n.854-1G>T) c.785-1G>T (n.785-1G>T) | |
| 20 | g.44419721G>A | CA409107313 | HNF4A | c.671G>A (p.Gly224Asp) c.737G>A (p.Gly246Asp) c.711G>A n.713G>A n.1861G>A c.*504G>A (n.*504G>A) c.662G>A (p.Gly221Asp) c.716G>A (p.Gly239Asp) c.854G>A (p.Gly285Asp) c.785G>A (p.Gly262Asp) | |
| 20 | g.44419721G>C | CA409107314 | HNF4A | c.671G>C (p.Gly224Ala) c.737G>C (p.Gly246Ala) c.711G>C n.713G>C n.1861G>C c.*504G>C (n.*504G>C) c.662G>C (p.Gly221Ala) c.716G>C (p.Gly239Ala) c.854G>C (p.Gly285Ala) c.785G>C (p.Gly262Ala) | |
| 20 | g.44419721G>T | CA409107315 | HNF4A | c.671G>T (p.Gly224Val) c.737G>T (p.Gly246Val) c.711G>T n.713G>T n.1861G>T c.*504G>T (n.*504G>T) c.662G>T (p.Gly221Val) c.716G>T (p.Gly239Val) c.854G>T (p.Gly285Val) c.785G>T (p.Gly262Val) | |
| 20 | g.44419722C>A | CA9870358 | HNF4A | c.672C>A (p.Gly224=) c.738C>A (p.Gly246=) c.712C>A n.714C>A n.1862C>A c.*505C>A (n.*505C>A) c.663C>A (p.Gly221=) c.717C>A (p.Gly239=) c.855C>A (p.Gly285=) c.786C>A (p.Gly262=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44419722C= | CA2365764280 | HNF4A | c.672C= (p.Gly224=) c.738C= (p.Gly246=) c.712C= n.714C= n.1862C= c.*505C= (n.*505C=) c.663C= (p.Gly221=) c.717C= (p.Gly239=) c.855C= (p.Gly285=) c.786C= (p.Gly262=) | |
| 20 | g.44419722C>G | CA510582809 | HNF4A | c.672C>G (p.Gly224=) c.738C>G (p.Gly246=) c.712C>G n.714C>G n.1862C>G c.*505C>G (n.*505C>G) c.663C>G (p.Gly221=) c.717C>G (p.Gly239=) c.855C>G (p.Gly285=) c.786C>G (p.Gly262=) | |
| 20 | g.44419722C>T | CA510582810 | HNF4A | c.672C>T (p.Gly224=) c.738C>T (p.Gly246=) c.712C>T n.714C>T n.1862C>T c.*505C>T (n.*505C>T) c.663C>T (p.Gly221=) c.717C>T (p.Gly239=) c.855C>T (p.Gly285=) c.786C>T (p.Gly262=) | |
| 20 | g.44419723A>C | CA409107316 | HNF4A | c.673A>C (p.Asn225His) c.739A>C (p.Asn247His) c.713A>C n.715A>C n.1863A>C c.*506A>C (n.*506A>C) c.664A>C (p.Asn222His) c.718A>C (p.Asn240His) c.856A>C (p.Asn286His) c.787A>C (p.Asn263His) | gnomAD v4 |
| 20 | g.44419723A>G | CA409107317 | HNF4A | c.673A>G (p.Asn225Asp) c.739A>G (p.Asn247Asp) c.713A>G n.715A>G n.1863A>G c.*506A>G (n.*506A>G) c.664A>G (p.Asn222Asp) c.718A>G (p.Asn240Asp) c.856A>G (p.Asn286Asp) c.787A>G (p.Asn263Asp) | |
| 20 | g.44419723A>T | CA409107318 | HNF4A | c.673A>T (p.Asn225Tyr) c.739A>T (p.Asn247Tyr) c.713A>T n.715A>T n.1863A>T c.*506A>T (n.*506A>T) c.664A>T (p.Asn222Tyr) c.718A>T (p.Asn240Tyr) c.856A>T (p.Asn286Tyr) c.787A>T (p.Asn263Tyr) | |
| 20 | g.44419724dup | CA2652973134 | HNF4A | c.674dup (p.Asn225LysfsTer2) c.740dup (p.Asn247LysfsTer2) c.714dup n.716dup n.1864dup c.*507dup (n.*507dup) c.665dup (p.Asn222LysfsTer2) c.719dup (p.Asn240LysfsTer2) c.857dup (p.Asn286LysfsTer2) c.788dup (p.Asn263LysfsTer2) | gnomAD v4 |
| 20 | g.44419724A= | CA2365764281 | HNF4A | c.674A= (p.Asn225=) c.740A= (p.Asn247=) c.714A= n.716A= n.1864A= c.*507A= (n.*507A=) c.665A= (p.Asn222=) c.719A= (p.Asn240=) c.857A= (p.Asn286=) c.788A= (p.Asn263=) | |
| 20 | g.44419724A>C | CA409107319 | HNF4A | c.674A>C (p.Asn225Thr) c.740A>C (p.Asn247Thr) c.714A>C n.716A>C n.1864A>C c.*507A>C (n.*507A>C) c.665A>C (p.Asn222Thr) c.719A>C (p.Asn240Thr) c.857A>C (p.Asn286Thr) c.788A>C (p.Asn263Thr) | |
| 20 | g.44419724A>G | CA9870359 | HNF4A | c.674A>G (p.Asn225Ser) c.740A>G (p.Asn247Ser) c.714A>G n.716A>G n.1864A>G c.*507A>G (n.*507A>G) c.665A>G (p.Asn222Ser) c.719A>G (p.Asn240Ser) c.857A>G (p.Asn286Ser) c.788A>G (p.Asn263Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44419724A>T | CA409107320 | HNF4A | c.674A>T (p.Asn225Ile) c.740A>T (p.Asn247Ile) c.714A>T n.716A>T n.1864A>T c.*507A>T (n.*507A>T) c.665A>T (p.Asn222Ile) c.719A>T (p.Asn240Ile) c.857A>T (p.Asn286Ile) c.788A>T (p.Asn263Ile) | |
| 20 | g.44419725T>A | CA409107321 | HNF4A | c.675T>A (p.Asn225Lys) c.741T>A (p.Asn247Lys) c.715T>A n.717T>A n.1865T>A c.*508T>A (n.*508T>A) c.666T>A (p.Asn222Lys) c.720T>A (p.Asn240Lys) c.858T>A (p.Asn286Lys) c.789T>A (p.Asn263Lys) | gnomAD v3 gnomAD v4 |
| 20 | g.44419725T>C | CA510582811 | HNF4A | c.675T>C (p.Asn225=) c.741T>C (p.Asn247=) c.715T>C n.717T>C n.1865T>C c.*508T>C (n.*508T>C) c.666T>C (p.Asn222=) c.720T>C (p.Asn240=) c.858T>C (p.Asn286=) c.789T>C (p.Asn263=) | |
| 20 | g.44419725T>G | CA409107322 | HNF4A | c.675T>G (p.Asn225Lys) c.741T>G (p.Asn247Lys) c.715T>G n.717T>G n.1865T>G c.*508T>G (n.*508T>G) c.666T>G (p.Asn222Lys) c.720T>G (p.Asn240Lys) c.858T>G (p.Asn286Lys) c.789T>G (p.Asn263Lys) | |
| 20 | g.44419726G>A | CA409107324 | HNF4A | c.676G>A (p.Asp226Asn) c.742G>A (p.Asp248Asn) c.716G>A n.718G>A n.1866G>A c.*509G>A (n.*509G>A) c.667G>A (p.Asp223Asn) c.721G>A (p.Asp241Asn) c.859G>A (p.Asp287Asn) c.790G>A (p.Asp264Asn) | |
| 20 | g.44419726G>C | CA409107325 | HNF4A | c.676G>C (p.Asp226His) c.742G>C (p.Asp248His) c.716G>C n.718G>C n.1866G>C c.*509G>C (n.*509G>C) c.667G>C (p.Asp223His) c.721G>C (p.Asp241His) c.859G>C (p.Asp287His) c.790G>C (p.Asp264His) | |
| 20 | g.44419726G>T | CA409107323 | HNF4A | c.676G>T (p.Asp226Tyr) c.742G>T (p.Asp248Tyr) c.716G>T n.718G>T n.1866G>T c.*509G>T (n.*509G>T) c.667G>T (p.Asp223Tyr) c.721G>T (p.Asp241Tyr) c.859G>T (p.Asp287Tyr) c.790G>T (p.Asp264Tyr) | gnomAD v4 |
| 20 | g.44419727A>C | CA409107326 | HNF4A | c.677A>C (p.Asp226Ala) c.743A>C (p.Asp248Ala) c.717A>C n.719A>C n.1867A>C c.*510A>C (n.*510A>C) c.668A>C (p.Asp223Ala) c.722A>C (p.Asp241Ala) c.860A>C (p.Asp287Ala) c.791A>C (p.Asp264Ala) | |
| 20 | g.44419727A>G | CA409107328 | HNF4A | c.677A>G (p.Asp226Gly) c.743A>G (p.Asp248Gly) c.717A>G n.719A>G n.1867A>G c.*510A>G (n.*510A>G) c.668A>G (p.Asp223Gly) c.722A>G (p.Asp241Gly) c.860A>G (p.Asp287Gly) c.791A>G (p.Asp264Gly) | |
| 20 | g.44419727A>T | CA409107327 | HNF4A | c.677A>T (p.Asp226Val) c.743A>T (p.Asp248Val) c.717A>T n.719A>T n.1867A>T c.*510A>T (n.*510A>T) c.668A>T (p.Asp223Val) c.722A>T (p.Asp241Val) c.860A>T (p.Asp287Val) c.791A>T (p.Asp264Val) | gnomAD v4 |
| 20 | g.44419728C>A | CA409107329 | HNF4A | c.678C>A (p.Asp226Glu) c.744C>A (p.Asp248Glu) c.718C>A n.720C>A n.1868C>A c.*511C>A (n.*511C>A) c.669C>A (p.Asp223Glu) c.723C>A (p.Asp241Glu) c.861C>A (p.Asp287Glu) c.792C>A (p.Asp264Glu) | gnomAD v4 |
| 20 | g.44419728C= | CA2365764282 | HNF4A | c.678C= (p.Asp226=) c.744C= (p.Asp248=) c.718C= n.720C= n.1868C= c.*511C= (n.*511C=) c.669C= (p.Asp223=) c.723C= (p.Asp241=) c.861C= (p.Asp287=) c.792C= (p.Asp264=) | |
| 20 | g.44419728C>G | CA409107330 | HNF4A | c.678C>G (p.Asp226Glu) c.744C>G (p.Asp248Glu) c.718C>G n.720C>G n.1868C>G c.*511C>G (n.*511C>G) c.669C>G (p.Asp223Glu) c.723C>G (p.Asp241Glu) c.861C>G (p.Asp287Glu) c.792C>G (p.Asp264Glu) | |
| 20 | g.44419728C>T | CA510582812 | HNF4A | c.678C>T (p.Asp226=) c.744C>T (p.Asp248=) c.718C>T n.720C>T n.1868C>T c.*511C>T (n.*511C>T) c.669C>T (p.Asp223=) c.723C>T (p.Asp241=) c.861C>T (p.Asp287=) c.792C>T (p.Asp264=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.44419729T>A | CA409107331 | HNF4A | c.679T>A (p.Tyr227Asn) c.745T>A (p.Tyr249Asn) c.719T>A n.721T>A n.1869T>A c.*512T>A (n.*512T>A) c.670T>A (p.Tyr224Asn) c.724T>A (p.Tyr242Asn) c.862T>A (p.Tyr288Asn) c.793T>A (p.Tyr265Asn) | gnomAD v4 |
| 20 | g.44419729T>C | CA409107333 | HNF4A | c.679T>C (p.Tyr227His) c.745T>C (p.Tyr249His) c.719T>C n.721T>C n.1869T>C c.*512T>C (n.*512T>C) c.670T>C (p.Tyr224His) c.724T>C (p.Tyr242His) c.862T>C (p.Tyr288His) c.793T>C (p.Tyr265His) | |
| 20 | g.44419729T>G | CA409107332 | HNF4A | c.679T>G (p.Tyr227Asp) c.745T>G (p.Tyr249Asp) c.719T>G n.721T>G n.1869T>G c.*512T>G (n.*512T>G) c.670T>G (p.Tyr224Asp) c.724T>G (p.Tyr242Asp) c.862T>G (p.Tyr288Asp) c.793T>G (p.Tyr265Asp) | |
| 20 | g.44419730A>C | CA409107334 | HNF4A | c.680A>C (p.Tyr227Ser) c.746A>C (p.Tyr249Ser) c.720A>C n.722A>C n.1870A>C c.*513A>C (n.*513A>C) c.671A>C (p.Tyr224Ser) c.725A>C (p.Tyr242Ser) c.863A>C (p.Tyr288Ser) c.794A>C (p.Tyr265Ser) | |
| 20 | g.44419730A>G | CA409107336 | HNF4A | c.680A>G (p.Tyr227Cys) c.746A>G (p.Tyr249Cys) c.720A>G n.722A>G n.1870A>G c.*513A>G (n.*513A>G) c.671A>G (p.Tyr224Cys) c.725A>G (p.Tyr242Cys) c.863A>G (p.Tyr288Cys) c.794A>G (p.Tyr265Cys) | |
| 20 | g.44419730A>T | CA409107335 | HNF4A | c.680A>T (p.Tyr227Phe) c.746A>T (p.Tyr249Phe) c.720A>T n.722A>T n.1870A>T c.*513A>T (n.*513A>T) c.671A>T (p.Tyr224Phe) c.725A>T (p.Tyr242Phe) c.863A>T (p.Tyr288Phe) c.794A>T (p.Tyr265Phe) | |
| 20 | g.44419735_44419736insCCCTCGGCACTGCCCACATTG | CA2582342725 | HNF4A | c.685_686insCCCTCGGCACTGCCCACATTG (p.Ile228_Val229insAlaLeuGlyThrAlaHisIle) c.751_752insCCCTCGGCACTGCCCACATTG (p.Ile250_Val251insAlaLeuGlyThrAlaHisIle) c.725_726insCCCTCGGCACTGCCCACATTG n.727_728insCCCTCGGCACTGCCCACATTG n.1875_1876insCCCTCGGCACTGCCCACATTG c.*518_*519insCCCTCGGCACTGCCCACATTG (n.*518_*519insCCCTCGGCACTGCCCACATTG) c.676_677insCCCTCGGCACTGCCCACATTG (p.Ile225_Val226insAlaLeuGlyThrAlaHisIle) c.730_731insCCCTCGGCACTGCCCACATTG (p.Ile243_Val244insAlaLeuGlyThrAlaHisIle) c.868_869insCCCTCGGCACTGCCCACATTG (p.Ile289_Val290insAlaLeuGlyThrAlaHisIle) c.799_800insCCCTCGGCACTGCCCACATTG (p.Ile266_Val267insAlaLeuGlyThrAlaHisIle) | |
| 20 | g.44419731C>A | CA409107337 | HNF4A | c.681C>A (p.Tyr227Ter) c.747C>A (p.Tyr249Ter) c.721C>A n.723C>A n.1871C>A c.*514C>A (n.*514C>A) c.672C>A (p.Tyr224Ter) c.726C>A (p.Tyr242Ter) c.864C>A (p.Tyr288Ter) c.795C>A (p.Tyr265Ter) | gnomAD v4 |
| 20 | g.44419731C>G | CA409107338 | HNF4A | c.681C>G (p.Tyr227Ter) c.747C>G (p.Tyr249Ter) c.721C>G n.723C>G n.1871C>G c.*514C>G (n.*514C>G) c.672C>G (p.Tyr224Ter) c.726C>G (p.Tyr242Ter) c.864C>G (p.Tyr288Ter) c.795C>G (p.Tyr265Ter) | |
| 20 | g.44419731C>T | CA510582813 | HNF4A | c.681C>T (p.Tyr227=) c.747C>T (p.Tyr249=) c.721C>T n.723C>T n.1871C>T c.*514C>T (n.*514C>T) c.672C>T (p.Tyr224=) c.726C>T (p.Tyr242=) c.864C>T (p.Tyr288=) c.795C>T (p.Tyr265=) | |
| 20 | g.44419732A= | CA2365764283 | HNF4A | c.682A= (p.Ile228=) c.748A= (p.Ile250=) c.722A= n.724A= n.1872A= c.*515A= (n.*515A=) c.673A= (p.Ile225=) c.727A= (p.Ile243=) c.865A= (p.Ile289=) c.796A= (p.Ile266=) | |
| 20 | g.44419732A>C | CA409107339 | HNF4A | c.682A>C (p.Ile228Leu) c.748A>C (p.Ile250Leu) c.722A>C n.724A>C n.1872A>C c.*515A>C (n.*515A>C) c.673A>C (p.Ile225Leu) c.727A>C (p.Ile243Leu) c.865A>C (p.Ile289Leu) c.796A>C (p.Ile266Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44419732A>G | CA9870360 | HNF4A | c.682A>G (p.Ile228Val) c.748A>G (p.Ile250Val) c.722A>G n.724A>G n.1872A>G c.*515A>G (n.*515A>G) c.673A>G (p.Ile225Val) c.727A>G (p.Ile243Val) c.865A>G (p.Ile289Val) c.796A>G (p.Ile266Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 20 | g.44419732A>T | CA409107340 | HNF4A | c.682A>T (p.Ile228Phe) c.748A>T (p.Ile250Phe) c.722A>T n.724A>T n.1872A>T c.*515A>T (n.*515A>T) c.673A>T (p.Ile225Phe) c.727A>T (p.Ile243Phe) c.865A>T (p.Ile289Phe) c.796A>T (p.Ile266Phe) |