| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.44424243T>A | CA409108808 | HNF4A | c.1052T>A (p.Met351Lys) c.1118T>A (p.Met373Lys) c.1092T>A c.*885T>A (n.*885T>A) c.1043T>A (p.Met348Lys) c.1097T>A (p.Met366Lys) c.1235T>A (p.Met412Lys) c.1166T>A (p.Met389Lys) | |
| 20 | g.44424243T>C | CA409108809 | HNF4A | c.1052T>C (p.Met351Thr) c.1118T>C (p.Met373Thr) c.1092T>C c.*885T>C (n.*885T>C) c.1043T>C (p.Met348Thr) c.1097T>C (p.Met366Thr) c.1235T>C (p.Met412Thr) c.1166T>C (p.Met389Thr) | |
| 20 | g.44424243T>G | CA120226 | HNF4A | c.1052T>G (p.Met351Arg) c.1118T>G (p.Met373Arg) c.1092T>G c.*885T>G (n.*885T>G) c.1043T>G (p.Met348Arg) c.1097T>G (p.Met366Arg) c.1235T>G (p.Met412Arg) c.1166T>G (p.Met389Arg) | ClinVar dbSNP |
| 20 | g.44424243T= | CA2365765888 | HNF4A | c.1052T= (p.Met351=) c.1118T= (p.Met373=) c.1092T= c.*885T= (n.*885T=) c.1043T= (p.Met348=) c.1097T= (p.Met366=) c.1235T= (p.Met412=) c.1166T= (p.Met389=) | |
| 20 | g.44424243_44424244dup | CA1139666699 | HNF4A | c.1052_1053dup (p.Leu352CysfsTer21) c.1118_1119dup (p.Leu374CysfsTer21) c.1092_1093dup c.*885_*886dup (n.*885_*886dup) c.1118_1119dup (p.Leu374CysfsTer27) c.1052_1053dup (p.Leu352CysfsTer27) c.1043_1044dup (p.Leu349CysfsTer21) c.1097_1098dup (p.Leu367CysfsTer21) c.1043_1044dup (p.Leu349CysfsTer27) c.1235_1236dup (p.Leu413CysfsTer21) c.1166_1167dup (p.Leu390CysfsTer21) | ClinVar dbSNP |
| 20 | g.44424244G>A | CA409108813 | HNF4A | c.1053G>A (p.Met351Ile) c.1119G>A (p.Met373Ile) c.1093G>A c.*886G>A (n.*886G>A) c.1044G>A (p.Met348Ile) c.1098G>A (p.Met366Ile) c.1236G>A (p.Met412Ile) c.1167G>A (p.Met389Ile) | |
| 20 | g.44424244G>C | CA409108815 | HNF4A | c.1053G>C (p.Met351Ile) c.1119G>C (p.Met373Ile) c.1093G>C c.*886G>C (n.*886G>C) c.1044G>C (p.Met348Ile) c.1098G>C (p.Met366Ile) c.1236G>C (p.Met412Ile) c.1167G>C (p.Met389Ile) | |
| 20 | g.44424244G>T | CA409108817 | HNF4A | c.1053G>T (p.Met351Ile) c.1119G>T (p.Met373Ile) c.1093G>T c.*886G>T (n.*886G>T) c.1044G>T (p.Met348Ile) c.1098G>T (p.Met366Ile) c.1236G>T (p.Met412Ile) c.1167G>T (p.Met389Ile) | |
| 20 | g.44424245C>A | CA409108820 | HNF4A | c.1054C>A (p.Leu352Met) c.1120C>A (p.Leu374Met) c.1094C>A c.*887C>A (n.*887C>A) c.1045C>A (p.Leu349Met) c.1099C>A (p.Leu367Met) c.1237C>A (p.Leu413Met) c.1168C>A (p.Leu390Met) | |
| 20 | g.44424245C>G | CA409108821 | HNF4A | c.1054C>G (p.Leu352Val) c.1120C>G (p.Leu374Val) c.1094C>G c.*887C>G (n.*887C>G) c.1045C>G (p.Leu349Val) c.1099C>G (p.Leu367Val) c.1237C>G (p.Leu413Val) c.1168C>G (p.Leu390Val) | |
| 20 | g.44424245C>T | CA510583042 | HNF4A | c.1054C>T (p.Leu352=) c.1120C>T (p.Leu374=) c.1094C>T c.*887C>T (n.*887C>T) c.1045C>T (p.Leu349=) c.1099C>T (p.Leu367=) c.1237C>T (p.Leu413=) c.1168C>T (p.Leu390=) | gnomAD v4 |
| 20 | g.44424246T>A | CA409108827 | HNF4A | c.1055T>A (p.Leu352Gln) c.1121T>A (p.Leu374Gln) c.1095T>A c.*888T>A (n.*888T>A) c.1046T>A (p.Leu349Gln) c.1100T>A (p.Leu367Gln) c.1238T>A (p.Leu413Gln) c.1169T>A (p.Leu390Gln) | |
| 20 | g.44424246T>C | CA409108823 | HNF4A | c.1055T>C (p.Leu352Pro) c.1121T>C (p.Leu374Pro) c.1095T>C c.*888T>C (n.*888T>C) c.1046T>C (p.Leu349Pro) c.1100T>C (p.Leu367Pro) c.1238T>C (p.Leu413Pro) c.1169T>C (p.Leu390Pro) | |
| 20 | g.44424246T>G | CA409108825 | HNF4A | c.1055T>G (p.Leu352Arg) c.1121T>G (p.Leu374Arg) c.1095T>G c.*888T>G (n.*888T>G) c.1046T>G (p.Leu349Arg) c.1100T>G (p.Leu367Arg) c.1238T>G (p.Leu413Arg) c.1169T>G (p.Leu390Arg) | |
| 20 | g.44424247G>A | CA510583045 | HNF4A | c.1056G>A (p.Leu352=) c.1122G>A (p.Leu374=) c.1096G>A c.*889G>A (n.*889G>A) c.1047G>A (p.Leu349=) c.1101G>A (p.Leu367=) c.1239G>A (p.Leu413=) c.1170G>A (p.Leu390=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44424247G>C | CA510583044 | HNF4A | c.1056G>C (p.Leu352=) c.1122G>C (p.Leu374=) c.1096G>C c.*889G>C (n.*889G>C) c.1047G>C (p.Leu349=) c.1101G>C (p.Leu367=) c.1239G>C (p.Leu413=) c.1170G>C (p.Leu390=) | |
| 20 | g.44424247G= | CA2365765892 | HNF4A | c.1056G= (p.Leu352=) c.1122G= (p.Leu374=) c.1096G= c.*889G= (n.*889G=) c.1047G= (p.Leu349=) c.1101G= (p.Leu367=) c.1239G= (p.Leu413=) c.1170G= (p.Leu390=) | |
| 20 | g.44424247G>T | CA510583043 | HNF4A | c.1056G>T (p.Leu352=) c.1122G>T (p.Leu374=) c.1096G>T c.*889G>T (n.*889G>T) c.1047G>T (p.Leu349=) c.1101G>T (p.Leu367=) c.1239G>T (p.Leu413=) c.1170G>T (p.Leu390=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44424248C>A | CA409108829 | HNF4A | c.1057C>A (p.Leu353Met) c.1123C>A (p.Leu375Met) c.1097C>A c.*890C>A (n.*890C>A) c.1048C>A (p.Leu350Met) c.1102C>A (p.Leu368Met) c.1240C>A (p.Leu414Met) c.1171C>A (p.Leu391Met) | |
| 20 | g.44424248C>G | CA409108832 | HNF4A | c.1057C>G (p.Leu353Val) c.1123C>G (p.Leu375Val) c.1097C>G c.*890C>G (n.*890C>G) c.1048C>G (p.Leu350Val) c.1102C>G (p.Leu368Val) c.1240C>G (p.Leu414Val) c.1171C>G (p.Leu391Val) | |
| 20 | g.44424248C>T | CA510583046 | HNF4A | c.1057C>T (p.Leu353=) c.1123C>T (p.Leu375=) c.1097C>T c.*890C>T (n.*890C>T) c.1048C>T (p.Leu350=) c.1102C>T (p.Leu368=) c.1240C>T (p.Leu414=) c.1171C>T (p.Leu391=) | |
| 20 | g.44424249T>A | CA409108834 | HNF4A | c.1058T>A (p.Leu353Gln) c.1124T>A (p.Leu375Gln) c.1098T>A c.*891T>A (n.*891T>A) c.1049T>A (p.Leu350Gln) c.1103T>A (p.Leu368Gln) c.1241T>A (p.Leu414Gln) c.1172T>A (p.Leu391Gln) | |
| 20 | g.44424249T>C | CA409108836 | HNF4A | c.1058T>C (p.Leu353Pro) c.1124T>C (p.Leu375Pro) c.1098T>C c.*891T>C (n.*891T>C) c.1049T>C (p.Leu350Pro) c.1103T>C (p.Leu368Pro) c.1241T>C (p.Leu414Pro) c.1172T>C (p.Leu391Pro) | |
| 20 | g.44424249T>G | CA409108838 | HNF4A | c.1058T>G (p.Leu353Arg) c.1124T>G (p.Leu375Arg) c.1098T>G c.*891T>G (n.*891T>G) c.1049T>G (p.Leu350Arg) c.1103T>G (p.Leu368Arg) c.1241T>G (p.Leu414Arg) c.1172T>G (p.Leu391Arg) | |
| 20 | g.44424250G>A | CA315413939 | HNF4A | c.1059G>A (p.Leu353=) c.1125G>A (p.Leu375=) c.1099G>A c.*892G>A (n.*892G>A) c.1050G>A (p.Leu350=) c.1104G>A (p.Leu368=) c.1242G>A (p.Leu414=) c.1173G>A (p.Leu391=) | dbSNP gnomAD v4 |
| 20 | g.44424250G>C | CA510583047 | HNF4A | c.1059G>C (p.Leu353=) c.1125G>C (p.Leu375=) c.1099G>C c.*892G>C (n.*892G>C) c.1050G>C (p.Leu350=) c.1104G>C (p.Leu368=) c.1242G>C (p.Leu414=) c.1173G>C (p.Leu391=) | gnomAD v4 |
| 20 | g.44424250G= | CA2365765901 | HNF4A | c.1059G= (p.Leu353=) c.1125G= (p.Leu375=) c.1099G= c.*892G= (n.*892G=) c.1050G= (p.Leu350=) c.1104G= (p.Leu368=) c.1242G= (p.Leu414=) c.1173G= (p.Leu391=) | |
| 20 | g.44424250G>T | CA510583048 | HNF4A | c.1059G>T (p.Leu353=) c.1125G>T (p.Leu375=) c.1099G>T c.*892G>T (n.*892G>T) c.1050G>T (p.Leu350=) c.1104G>T (p.Leu368=) c.1242G>T (p.Leu414=) c.1173G>T (p.Leu391=) | |
| 20 | g.44424252del | CA2573106208 | HNF4A | c.1061del (p.Gly354GlufsTer18) c.1127del (p.Gly376GlufsTer18) c.1101del c.*894del (n.*894del) c.1127del (p.Gly376GlufsTer24) c.1061del (p.Gly354GlufsTer24) c.1052del (p.Gly351GlufsTer18) c.1106del (p.Gly369GlufsTer18) c.1052del (p.Gly351GlufsTer24) c.1244del (p.Gly415GlufsTer18) c.1175del (p.Gly392GlufsTer18) | |
| 20 | g.44424251G>A | CA409108841 | HNF4A | c.1060G>A (p.Gly354Arg) c.1126G>A (p.Gly376Arg) c.1100G>A c.*893G>A (n.*893G>A) c.1051G>A (p.Gly351Arg) c.1105G>A (p.Gly369Arg) c.1243G>A (p.Gly415Arg) c.1174G>A (p.Gly392Arg) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 20 | g.44424251G>C | CA409108843 | HNF4A | c.1060G>C (p.Gly354Arg) c.1126G>C (p.Gly376Arg) c.1100G>C c.*893G>C (n.*893G>C) c.1051G>C (p.Gly351Arg) c.1105G>C (p.Gly369Arg) c.1243G>C (p.Gly415Arg) c.1174G>C (p.Gly392Arg) | dbSNP gnomAD v4 |
| 20 | g.44424251G= | CA2365765904 | HNF4A | c.1060G= (p.Gly354=) c.1126G= (p.Gly376=) c.1100G= c.*893G= (n.*893G=) c.1051G= (p.Gly351=) c.1105G= (p.Gly369=) c.1243G= (p.Gly415=) c.1174G= (p.Gly392=) | |
| 20 | g.44424251G>T | CA409108845 | HNF4A | c.1060G>T (p.Gly354Ter) c.1126G>T (p.Gly376Ter) c.1100G>T c.*893G>T (n.*893G>T) c.1051G>T (p.Gly351Ter) c.1105G>T (p.Gly369Ter) c.1243G>T (p.Gly415Ter) c.1174G>T (p.Gly392Ter) | |
| 20 | g.44424252G>A | CA409108847 | HNF4A | c.1061G>A (p.Gly354Glu) c.1127G>A (p.Gly376Glu) c.1101G>A c.*894G>A (n.*894G>A) c.1052G>A (p.Gly351Glu) c.1106G>A (p.Gly369Glu) c.1244G>A (p.Gly415Glu) c.1175G>A (p.Gly392Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44424252G>C | CA409108849 | HNF4A | c.1061G>C (p.Gly354Ala) c.1127G>C (p.Gly376Ala) c.1101G>C c.*894G>C (n.*894G>C) c.1052G>C (p.Gly351Ala) c.1106G>C (p.Gly369Ala) c.1244G>C (p.Gly415Ala) c.1175G>C (p.Gly392Ala) | |
| 20 | g.44424252G= | CA2365765906 | HNF4A | c.1061G= (p.Gly354=) c.1127G= (p.Gly376=) c.1101G= c.*894G= (n.*894G=) c.1052G= (p.Gly351=) c.1106G= (p.Gly369=) c.1244G= (p.Gly415=) c.1175G= (p.Gly392=) | |
| 20 | g.44424252G>T | CA409108851 | HNF4A | c.1061G>T (p.Gly354Val) c.1127G>T (p.Gly376Val) c.1101G>T c.*894G>T (n.*894G>T) c.1052G>T (p.Gly351Val) c.1106G>T (p.Gly369Val) c.1244G>T (p.Gly415Val) c.1175G>T (p.Gly392Val) | |
| 20 | g.44424253A>C | CA510583051 | HNF4A | c.1062A>C (p.Gly354=) c.1128A>C (p.Gly376=) c.1102A>C c.*895A>C (n.*895A>C) c.1053A>C (p.Gly351=) c.1107A>C (p.Gly369=) c.1245A>C (p.Gly415=) c.1176A>C (p.Gly392=) | |
| 20 | g.44424253A>G | CA510583050 | HNF4A | c.1062A>G (p.Gly354=) c.1128A>G (p.Gly376=) c.1102A>G c.*895A>G (n.*895A>G) c.1053A>G (p.Gly351=) c.1107A>G (p.Gly369=) c.1245A>G (p.Gly415=) c.1176A>G (p.Gly392=) | |
| 20 | g.44424253A>T | CA510583049 | HNF4A | c.1062A>T (p.Gly354=) c.1128A>T (p.Gly376=) c.1102A>T c.*895A>T (n.*895A>T) c.1053A>T (p.Gly351=) c.1107A>T (p.Gly369=) c.1245A>T (p.Gly415=) c.1176A>T (p.Gly392=) | |
| 20 | g.44424254G>A | CA409108858 | HNF4A | c.1063G>A (p.Gly355Arg) c.1129G>A (p.Gly377Arg) c.1103G>A c.*896G>A (n.*896G>A) c.1129G>A (p.Gly377Ser) c.1063G>A (p.Gly355Ser) c.1054G>A (p.Gly352Arg) c.1108G>A (p.Gly370Arg) c.1054G>A (p.Gly352Ser) c.1246G>A (p.Gly416Arg) c.1177G>A (p.Gly393Arg) | ClinVar dbSNP |
| 20 | g.44424254G>C | CA409108855 | HNF4A | c.1063G>C (p.Gly355Arg) c.1129G>C (p.Gly377Arg) c.1103G>C c.*896G>C (n.*896G>C) c.1054G>C (p.Gly352Arg) c.1108G>C (p.Gly370Arg) c.1246G>C (p.Gly416Arg) c.1177G>C (p.Gly393Arg) | |
| 20 | g.44424254G= | CA2365765907 | HNF4A | c.1063G= (p.Gly355=) c.1129G= (p.Gly377=) c.1103G= c.*896G= (n.*896G=) c.1054G= (p.Gly352=) c.1108G= (p.Gly370=) c.1246G= (p.Gly416=) c.1177G= (p.Gly393=) | |
| 20 | g.44424254G>T | CA409108853 | HNF4A | c.1063G>T (p.Gly355Trp) c.1129G>T (p.Gly377Trp) c.1103G>T c.*896G>T (n.*896G>T) c.1129G>T (p.Gly377Cys) c.1063G>T (p.Gly355Cys) c.1054G>T (p.Gly352Trp) c.1108G>T (p.Gly370Trp) c.1054G>T (p.Gly352Cys) c.1246G>T (p.Gly416Trp) c.1177G>T (p.Gly393Trp) | |
| 20 | g.44424255G>A | CA409108859 | HNF4A | c.1063+1G>A (n.1063+1G>A) c.1129+1G>A (n.1129+1G>A) c.1103+1G>A c.*896+1G>A (n.*896+1G>A) c.1130G>A (p.Gly377Asp) c.1064G>A (p.Gly355Asp) c.1054+1G>A (n.1054+1G>A) c.1108+1G>A (n.1108+1G>A) c.1055G>A (p.Gly352Asp) c.1246+1G>A (n.1246+1G>A) c.1177+1G>A (n.1177+1G>A) | |
| 20 | g.44424255G>C | CA409108863 | HNF4A | c.1063+1G>C (n.1063+1G>C) c.1129+1G>C (n.1129+1G>C) c.1103+1G>C c.*896+1G>C (n.*896+1G>C) c.1130G>C (p.Gly377Ala) c.1064G>C (p.Gly355Ala) c.1054+1G>C (n.1054+1G>C) c.1108+1G>C (n.1108+1G>C) c.1055G>C (p.Gly352Ala) c.1246+1G>C (n.1246+1G>C) c.1177+1G>C (n.1177+1G>C) | |
| 20 | g.44424255G>T | CA409108861 | HNF4A | c.1063+1G>T (n.1063+1G>T) c.1129+1G>T (n.1129+1G>T) c.1103+1G>T c.*896+1G>T (n.*896+1G>T) c.1130G>T (p.Gly377Val) c.1064G>T (p.Gly355Val) c.1054+1G>T (n.1054+1G>T) c.1108+1G>T (n.1108+1G>T) c.1055G>T (p.Gly352Val) c.1246+1G>T (n.1246+1G>T) c.1177+1G>T (n.1177+1G>T) | |
| 20 | g.44424256T>A | CA409108865 | HNF4A | c.1063+2T>A (n.1063+2T>A) c.1129+2T>A (n.1129+2T>A) c.1103+2T>A c.*896+2T>A (n.*896+2T>A) c.1131T>A (p.Gly377=) c.1065T>A (p.Gly355=) c.1054+2T>A (n.1054+2T>A) c.1108+2T>A (n.1108+2T>A) c.1056T>A (p.Gly352=) c.1246+2T>A (n.1246+2T>A) c.1177+2T>A (n.1177+2T>A) | |
| 20 | g.44424256T>C | CA409108867 | HNF4A | c.1063+2T>C (n.1063+2T>C) c.1129+2T>C (n.1129+2T>C) c.1103+2T>C c.*896+2T>C (n.*896+2T>C) c.1131T>C (p.Gly377=) c.1065T>C (p.Gly355=) c.1054+2T>C (n.1054+2T>C) c.1108+2T>C (n.1108+2T>C) c.1056T>C (p.Gly352=) c.1246+2T>C (n.1246+2T>C) c.1177+2T>C (n.1177+2T>C) | |
| 20 | g.44424256T>G | CA409108869 | HNF4A | c.1063+2T>G (n.1063+2T>G) c.1129+2T>G (n.1129+2T>G) c.1103+2T>G c.*896+2T>G (n.*896+2T>G) c.1131T>G (p.Gly377=) c.1065T>G (p.Gly355=) c.1054+2T>G (n.1054+2T>G) c.1108+2T>G (n.1108+2T>G) c.1056T>G (p.Gly352=) c.1246+2T>G (n.1246+2T>G) c.1177+2T>G (n.1177+2T>G) |