| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.44424147_44424149dup | CA645373277 | HNF4A | c.956_958dup (p.Leu319_Pro320insLeu) c.1022_1024dup (p.Leu341_Pro342insLeu) c.996_998dup c.*789_*791dup (n.*789_*791dup) c.947_949dup (p.Leu316_Pro317insLeu) c.1001_1003dup (p.Leu334_Pro335insLeu) c.1139_1141dup (p.Leu380_Pro381insLeu) c.1070_1072dup (p.Leu357_Pro358insLeu) | dbSNP gnomAD v4 |
| 20 | g.44424144_44424149dup | CA2573320359 | HNF4A | c.953_958dup (p.Leu319_Pro320insLeuLeu) c.1019_1024dup (p.Leu341_Pro342insLeuLeu) c.993_998dup c.*786_*791dup (n.*786_*791dup) c.944_949dup (p.Leu316_Pro317insLeuLeu) c.998_1003dup (p.Leu334_Pro335insLeuLeu) c.1136_1141dup (p.Leu380_Pro381insLeuLeu) c.1067_1072dup (p.Leu357_Pro358insLeuLeu) | |
| 20 | g.44424147_44424149del | CA9870416 | HNF4A | c.956_958del (p.Leu319del) c.1022_1024del (p.Leu341del) c.996_998del c.*789_*791del (n.*789_*791del) c.947_949del (p.Leu316del) c.1001_1003del (p.Leu334del) c.1139_1141del (p.Leu380del) c.1070_1072del (p.Leu357del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 20 | g.44424139_44424153delinsTGCAGAG | CA2695229802 | HNF4A | c.948_962delinsTGCAGAG (p.Leu317AlafsTer26) c.1014_1028delinsTGCAGAG (p.Leu339AlafsTer26) c.988_1002delinsTGCAGAG c.*781_*795delinsTGCAGAG (n.*781_*795delinsTGCAGAG) c.939_953delinsTGCAGAG (p.Leu314AlafsTer26) c.993_1007delinsTGCAGAG (p.Leu332AlafsTer26) c.1131_1145delinsTGCAGAG (p.Leu378AlafsTer26) c.1062_1076delinsTGCAGAG (p.Leu355AlafsTer26) | |
| 20 | g.44424143C>A | CA409108337 | HNF4A | c.952C>A (p.Leu318Met) c.1018C>A (p.Leu340Met) c.992C>A c.*785C>A (n.*785C>A) c.943C>A (p.Leu315Met) c.997C>A (p.Leu333Met) c.1135C>A (p.Leu379Met) c.1066C>A (p.Leu356Met) | |
| 20 | g.44424143C= | CA2365766416 | HNF4A | c.952C= (p.Leu318=) c.1018C= (p.Leu340=) c.992C= c.*785C= (n.*785C=) c.943C= (p.Leu315=) c.997C= (p.Leu333=) c.1135C= (p.Leu379=) c.1066C= (p.Leu356=) | |
| 20 | g.44424143C>G | CA409108338 | HNF4A | c.952C>G (p.Leu318Val) c.1018C>G (p.Leu340Val) c.992C>G c.*785C>G (n.*785C>G) c.943C>G (p.Leu315Val) c.997C>G (p.Leu333Val) c.1135C>G (p.Leu379Val) c.1066C>G (p.Leu356Val) | |
| 20 | g.44424143C>T | CA510582992 | HNF4A | c.952C>T (p.Leu318=) c.1018C>T (p.Leu340=) c.992C>T c.*785C>T (n.*785C>T) c.943C>T (p.Leu315=) c.997C>T (p.Leu333=) c.1135C>T (p.Leu379=) c.1066C>T (p.Leu356=) | dbSNP |
| 20 | g.44424144T>A | CA409108340 | HNF4A | c.953T>A (p.Leu318Gln) c.1019T>A (p.Leu340Gln) c.993T>A c.*786T>A (n.*786T>A) c.944T>A (p.Leu315Gln) c.998T>A (p.Leu333Gln) c.1136T>A (p.Leu379Gln) c.1067T>A (p.Leu356Gln) | ClinVar dbSNP |
| 20 | g.44424144T>C | CA409108342 | HNF4A | c.953T>C (p.Leu318Pro) c.1019T>C (p.Leu340Pro) c.993T>C c.*786T>C (n.*786T>C) c.944T>C (p.Leu315Pro) c.998T>C (p.Leu333Pro) c.1136T>C (p.Leu379Pro) c.1067T>C (p.Leu356Pro) | gnomAD v4 |
| 20 | g.44424144T>G | CA409108343 | HNF4A | c.953T>G (p.Leu318Arg) c.1019T>G (p.Leu340Arg) c.993T>G c.*786T>G (n.*786T>G) c.944T>G (p.Leu315Arg) c.998T>G (p.Leu333Arg) c.1136T>G (p.Leu379Arg) c.1067T>G (p.Leu356Arg) | |
| 20 | g.44424144T= | CA2365766417 | HNF4A | c.953T= (p.Leu318=) c.1019T= (p.Leu340=) c.993T= c.*786T= (n.*786T=) c.944T= (p.Leu315=) c.998T= (p.Leu333=) c.1136T= (p.Leu379=) c.1067T= (p.Leu356=) | |
| 20 | g.44424145del | CA2573320479 | HNF4A | c.954del (p.Leu319CysfsTer11) c.1020del (p.Leu341CysfsTer11) c.994del c.*787del (n.*787del) c.945del (p.Leu316CysfsTer11) c.999del (p.Leu334CysfsTer11) c.1137del (p.Leu380CysfsTer11) c.1068del (p.Leu357CysfsTer11) | |
| 20 | g.44424145G>A | CA510582993 | HNF4A | c.954G>A (p.Leu318=) c.1020G>A (p.Leu340=) c.994G>A c.*787G>A (n.*787G>A) c.945G>A (p.Leu315=) c.999G>A (p.Leu333=) c.1137G>A (p.Leu379=) c.1068G>A (p.Leu356=) | gnomAD v4 |
| 20 | g.44424145G>C | CA510582995 | HNF4A | c.954G>C (p.Leu318=) c.1020G>C (p.Leu340=) c.994G>C c.*787G>C (n.*787G>C) c.945G>C (p.Leu315=) c.999G>C (p.Leu333=) c.1137G>C (p.Leu379=) c.1068G>C (p.Leu356=) | |
| 20 | g.44424145G>T | CA510582994 | HNF4A | c.954G>T (p.Leu318=) c.1020G>T (p.Leu340=) c.994G>T c.*787G>T (n.*787G>T) c.945G>T (p.Leu315=) c.999G>T (p.Leu333=) c.1137G>T (p.Leu379=) c.1068G>T (p.Leu356=) | |
| 20 | g.44424146C>A | CA409108345 | HNF4A | c.955C>A (p.Leu319Met) c.1021C>A (p.Leu341Met) c.995C>A c.*788C>A (n.*788C>A) c.946C>A (p.Leu316Met) c.1000C>A (p.Leu334Met) c.1138C>A (p.Leu380Met) c.1069C>A (p.Leu357Met) | |
| 20 | g.44424146C>G | CA409108347 | HNF4A | c.955C>G (p.Leu319Val) c.1021C>G (p.Leu341Val) c.995C>G c.*788C>G (n.*788C>G) c.946C>G (p.Leu316Val) c.1000C>G (p.Leu334Val) c.1138C>G (p.Leu380Val) c.1069C>G (p.Leu357Val) | |
| 20 | g.44424146C>T | CA510582996 | HNF4A | c.955C>T (p.Leu319=) c.1021C>T (p.Leu341=) c.995C>T c.*788C>T (n.*788C>T) c.946C>T (p.Leu316=) c.1000C>T (p.Leu334=) c.1138C>T (p.Leu380=) c.1069C>T (p.Leu357=) | |
| 20 | g.44424147T>A | CA409108349 | HNF4A | c.956T>A (p.Leu319Gln) c.1022T>A (p.Leu341Gln) c.996T>A c.*789T>A (n.*789T>A) c.947T>A (p.Leu316Gln) c.1001T>A (p.Leu334Gln) c.1139T>A (p.Leu380Gln) c.1070T>A (p.Leu357Gln) | |
| 20 | g.44424147T>C | CA409108350 | HNF4A | c.956T>C (p.Leu319Pro) c.1022T>C (p.Leu341Pro) c.996T>C c.*789T>C (n.*789T>C) c.947T>C (p.Leu316Pro) c.1001T>C (p.Leu334Pro) c.1139T>C (p.Leu380Pro) c.1070T>C (p.Leu357Pro) | ClinVar dbSNP gnomAD v4 |
| 20 | g.44424147T>G | CA409108351 | HNF4A | c.956T>G (p.Leu319Arg) c.1022T>G (p.Leu341Arg) c.996T>G c.*789T>G (n.*789T>G) c.947T>G (p.Leu316Arg) c.1001T>G (p.Leu334Arg) c.1139T>G (p.Leu380Arg) c.1070T>G (p.Leu357Arg) | |
| 20 | g.44424147T= | CA2365766418 | HNF4A | c.956T= (p.Leu319=) c.1022T= (p.Leu341=) c.996T= c.*789T= (n.*789T=) c.947T= (p.Leu316=) c.1001T= (p.Leu334=) c.1139T= (p.Leu380=) c.1070T= (p.Leu357=) | |
| 20 | g.44424148G>A | CA510582997 | HNF4A | c.957G>A (p.Leu319=) c.1023G>A (p.Leu341=) c.997G>A c.*790G>A (n.*790G>A) c.948G>A (p.Leu316=) c.1002G>A (p.Leu334=) c.1140G>A (p.Leu380=) c.1071G>A (p.Leu357=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44424148G>C | CA510582998 | HNF4A | c.957G>C (p.Leu319=) c.1023G>C (p.Leu341=) c.997G>C c.*790G>C (n.*790G>C) c.948G>C (p.Leu316=) c.1002G>C (p.Leu334=) c.1140G>C (p.Leu380=) c.1071G>C (p.Leu357=) | |
| 20 | g.44424148G= | CA2365766419 | HNF4A | c.957G= (p.Leu319=) c.1023G= (p.Leu341=) c.997G= c.*790G= (n.*790G=) c.948G= (p.Leu316=) c.1002G= (p.Leu334=) c.1140G= (p.Leu380=) c.1071G= (p.Leu357=) | |
| 20 | g.44424148G>T | CA510582999 | HNF4A | c.957G>T (p.Leu319=) c.1023G>T (p.Leu341=) c.997G>T c.*790G>T (n.*790G>T) c.948G>T (p.Leu316=) c.1002G>T (p.Leu334=) c.1140G>T (p.Leu380=) c.1071G>T (p.Leu357=) | |
| 20 | g.44424149C>A | CA409108353 | HNF4A | c.958C>A (p.Pro320Thr) c.1024C>A (p.Pro342Thr) c.998C>A c.*791C>A (n.*791C>A) c.949C>A (p.Pro317Thr) c.1003C>A (p.Pro335Thr) c.1141C>A (p.Pro381Thr) c.1072C>A (p.Pro358Thr) | |
| 20 | g.44424149C= | CA2365766420 | HNF4A | c.958C= (p.Pro320=) c.1024C= (p.Pro342=) c.998C= c.*791C= (n.*791C=) c.949C= (p.Pro317=) c.1003C= (p.Pro335=) c.1141C= (p.Pro381=) c.1072C= (p.Pro358=) | |
| 20 | g.44424149C>G | CA409108354 | HNF4A | c.958C>G (p.Pro320Ala) c.1024C>G (p.Pro342Ala) c.998C>G c.*791C>G (n.*791C>G) c.949C>G (p.Pro317Ala) c.1003C>G (p.Pro335Ala) c.1141C>G (p.Pro381Ala) c.1072C>G (p.Pro358Ala) | |
| 20 | g.44424149C>T | CA409108358 | HNF4A | c.958C>T (p.Pro320Ser) c.1024C>T (p.Pro342Ser) c.998C>T c.*791C>T (n.*791C>T) c.949C>T (p.Pro317Ser) c.1003C>T (p.Pro335Ser) c.1141C>T (p.Pro381Ser) c.1072C>T (p.Pro358Ser) | |
| 20 | g.44424149_44424150insGGGGAGCCTATTCTAACACAGTAGAAG | CA9870418 | HNF4A | c.958_959insGGGGAGCCTATTCTAACACAGTAGAAG (p.Pro320delinsArgGlyAlaTyrSerAsnThrValGluAla) c.1024_1025insGGGGAGCCTATTCTAACACAGTAGAAG (p.Pro342delinsArgGlyAlaTyrSerAsnThrValGluAla) c.998_999insGGGGAGCCTATTCTAACACAGTAGAAG c.*791_*792insGGGGAGCCTATTCTAACACAGTAGAAG (n.*791_*792insGGGGAGCCTATTCTAACACAGTAGAAG) c.949_950insGGGGAGCCTATTCTAACACAGTAGAAG (p.Pro317delinsArgGlyAlaTyrSerAsnThrValGluAla) c.1003_1004insGGGGAGCCTATTCTAACACAGTAGAAG (p.Pro335delinsArgGlyAlaTyrSerAsnThrValGluAla) c.1141_1142insGGGGAGCCTATTCTAACACAGTAGAAG (p.Pro381delinsArgGlyAlaTyrSerAsnThrValGluAla) c.1072_1073insGGGGAGCCTATTCTAACACAGTAGAAG (p.Pro358delinsArgGlyAlaTyrSerAsnThrValGluAla) | dbSNP ExAC |
| 20 | g.44424150C>A | CA409108365 | HNF4A | c.959C>A (p.Pro320His) c.1025C>A (p.Pro342His) c.999C>A c.*792C>A (n.*792C>A) c.950C>A (p.Pro317His) c.1004C>A (p.Pro335His) c.1142C>A (p.Pro381His) c.1073C>A (p.Pro358His) | |
| 20 | g.44424150C>G | CA409108363 | HNF4A | c.959C>G (p.Pro320Arg) c.1025C>G (p.Pro342Arg) c.999C>G c.*792C>G (n.*792C>G) c.950C>G (p.Pro317Arg) c.1004C>G (p.Pro335Arg) c.1142C>G (p.Pro381Arg) c.1073C>G (p.Pro358Arg) | |
| 20 | g.44424150C>T | CA409108361 | HNF4A | c.959C>T (p.Pro320Leu) c.1025C>T (p.Pro342Leu) c.999C>T c.*792C>T (n.*792C>T) c.950C>T (p.Pro317Leu) c.1004C>T (p.Pro335Leu) c.1142C>T (p.Pro381Leu) c.1073C>T (p.Pro358Leu) | |
| 20 | g.44424151C>A | CA510583000 | HNF4A | c.960C>A (p.Pro320=) c.1026C>A (p.Pro342=) c.1000C>A c.*793C>A (n.*793C>A) c.951C>A (p.Pro317=) c.1005C>A (p.Pro335=) c.1143C>A (p.Pro381=) c.1074C>A (p.Pro358=) | |
| 20 | g.44424151C>G | CA510583001 | HNF4A | c.960C>G (p.Pro320=) c.1026C>G (p.Pro342=) c.1000C>G c.*793C>G (n.*793C>G) c.951C>G (p.Pro317=) c.1005C>G (p.Pro335=) c.1143C>G (p.Pro381=) c.1074C>G (p.Pro358=) | |
| 20 | g.44424151C>T | CA510583002 | HNF4A | c.960C>T (p.Pro320=) c.1026C>T (p.Pro342=) c.1000C>T c.*793C>T (n.*793C>T) c.951C>T (p.Pro317=) c.1005C>T (p.Pro335=) c.1143C>T (p.Pro381=) c.1074C>T (p.Pro358=) | gnomAD v4 |
| 20 | g.44424152A>C | CA409108370 | HNF4A | c.961A>C (p.Thr321Pro) c.1027A>C (p.Thr343Pro) c.1001A>C c.*794A>C (n.*794A>C) c.952A>C (p.Thr318Pro) c.1006A>C (p.Thr336Pro) c.1144A>C (p.Thr382Pro) c.1075A>C (p.Thr359Pro) | |
| 20 | g.44424152A>G | CA409108367 | HNF4A | c.961A>G (p.Thr321Ala) c.1027A>G (p.Thr343Ala) c.1001A>G c.*794A>G (n.*794A>G) c.952A>G (p.Thr318Ala) c.1006A>G (p.Thr336Ala) c.1144A>G (p.Thr382Ala) c.1075A>G (p.Thr359Ala) | |
| 20 | g.44424152A>T | CA409108369 | HNF4A | c.961A>T (p.Thr321Ser) c.1027A>T (p.Thr343Ser) c.1001A>T c.*794A>T (n.*794A>T) c.952A>T (p.Thr318Ser) c.1006A>T (p.Thr336Ser) c.1144A>T (p.Thr382Ser) c.1075A>T (p.Thr359Ser) | |
| 20 | g.44424153C>A | CA409108373 | HNF4A | c.962C>A (p.Thr321Asn) c.1028C>A (p.Thr343Asn) c.1002C>A c.*795C>A (n.*795C>A) c.953C>A (p.Thr318Asn) c.1007C>A (p.Thr336Asn) c.1145C>A (p.Thr382Asn) c.1076C>A (p.Thr359Asn) | |
| 20 | g.44424153C>G | CA409108374 | HNF4A | c.962C>G (p.Thr321Ser) c.1028C>G (p.Thr343Ser) c.1002C>G c.*795C>G (n.*795C>G) c.953C>G (p.Thr318Ser) c.1007C>G (p.Thr336Ser) c.1145C>G (p.Thr382Ser) c.1076C>G (p.Thr359Ser) | |
| 20 | g.44424153C>T | CA409108377 | HNF4A | c.962C>T (p.Thr321Ile) c.1028C>T (p.Thr343Ile) c.1002C>T c.*795C>T (n.*795C>T) c.953C>T (p.Thr318Ile) c.1007C>T (p.Thr336Ile) c.1145C>T (p.Thr382Ile) c.1076C>T (p.Thr359Ile) | |
| 20 | g.44424154C>A | CA510583003 | HNF4A | c.963C>A (p.Thr321=) c.1029C>A (p.Thr343=) c.1003C>A c.*796C>A (n.*796C>A) c.954C>A (p.Thr318=) c.1008C>A (p.Thr336=) c.1146C>A (p.Thr382=) c.1077C>A (p.Thr359=) | |
| 20 | g.44424154C= | CA2365766421 | HNF4A | c.963C= (p.Thr321=) c.1029C= (p.Thr343=) c.1003C= c.*796C= (n.*796C=) c.954C= (p.Thr318=) c.1008C= (p.Thr336=) c.1146C= (p.Thr382=) c.1077C= (p.Thr359=) | |
| 20 | g.44424154C>G | CA510583004 | HNF4A | c.963C>G (p.Thr321=) c.1029C>G (p.Thr343=) c.1003C>G c.*796C>G (n.*796C>G) c.954C>G (p.Thr318=) c.1008C>G (p.Thr336=) c.1146C>G (p.Thr382=) c.1077C>G (p.Thr359=) | |
| 20 | g.44424154C>T | CA315413898 | HNF4A | c.963C>T (p.Thr321=) c.1029C>T (p.Thr343=) c.1003C>T c.*796C>T (n.*796C>T) c.954C>T (p.Thr318=) c.1008C>T (p.Thr336=) c.1146C>T (p.Thr382=) c.1077C>T (p.Thr359=) | dbSNP gnomAD v4 |
| 20 | g.44424155T>A | CA409108380 | HNF4A | c.964T>A (p.Leu322Met) c.1030T>A (p.Leu344Met) c.1004T>A c.*797T>A (n.*797T>A) c.955T>A (p.Leu319Met) c.1009T>A (p.Leu337Met) c.1147T>A (p.Leu383Met) c.1078T>A (p.Leu360Met) | |
| 20 | g.44424155T>C | CA510583005 | HNF4A | c.964T>C (p.Leu322=) c.1030T>C (p.Leu344=) c.1004T>C c.*797T>C (n.*797T>C) c.955T>C (p.Leu319=) c.1009T>C (p.Leu337=) c.1147T>C (p.Leu383=) c.1078T>C (p.Leu360=) | dbSNP |