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.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) | ClinVar 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.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 |
| 20 | g.44424155T>G | CA409108382 | HNF4A | c.964T>G (p.Leu322Val) c.1030T>G (p.Leu344Val) c.1004T>G c.*797T>G (n.*797T>G) c.955T>G (p.Leu319Val) c.1009T>G (p.Leu337Val) c.1147T>G (p.Leu383Val) c.1078T>G (p.Leu360Val) | |
| 20 | g.44424155T= | CA2365766422 | HNF4A | c.964T= (p.Leu322=) c.1030T= (p.Leu344=) c.1004T= c.*797T= (n.*797T=) c.955T= (p.Leu319=) c.1009T= (p.Leu337=) c.1147T= (p.Leu383=) c.1078T= (p.Leu360=) | |
| 20 | g.44424156del | CA2695229803 | HNF4A | c.965del (p.Leu322CysfsTer8) c.1031del (p.Leu344CysfsTer8) c.1005del c.*798del (n.*798del) c.956del (p.Leu319CysfsTer8) c.1010del (p.Leu337CysfsTer8) c.1148del (p.Leu383CysfsTer8) c.1079del (p.Leu360CysfsTer8) | |
| 20 | g.44424156T>A | CA409108383 | HNF4A | c.965T>A (p.Leu322Ter) c.1031T>A (p.Leu344Ter) c.1005T>A c.*798T>A (n.*798T>A) c.956T>A (p.Leu319Ter) c.1010T>A (p.Leu337Ter) c.1148T>A (p.Leu383Ter) c.1079T>A (p.Leu360Ter) | |
| 20 | g.44424156T>C | CA409108386 | HNF4A | c.965T>C (p.Leu322Ser) c.1031T>C (p.Leu344Ser) c.1005T>C c.*798T>C (n.*798T>C) c.956T>C (p.Leu319Ser) c.1010T>C (p.Leu337Ser) c.1148T>C (p.Leu383Ser) c.1079T>C (p.Leu360Ser) | |
| 20 | g.44424156T>G | CA409108388 | HNF4A | c.965T>G (p.Leu322Trp) c.1031T>G (p.Leu344Trp) c.1005T>G c.*798T>G (n.*798T>G) c.956T>G (p.Leu319Trp) c.1010T>G (p.Leu337Trp) c.1148T>G (p.Leu383Trp) c.1079T>G (p.Leu360Trp) | ClinVar dbSNP |
| 20 | g.44424157G>A | CA510583006 | HNF4A | c.966G>A (p.Leu322=) c.1032G>A (p.Leu344=) c.1006G>A c.*799G>A (n.*799G>A) c.957G>A (p.Leu319=) c.1011G>A (p.Leu337=) c.1149G>A (p.Leu383=) c.1080G>A (p.Leu360=) | |
| 20 | g.44424157G>C | CA409108389 | HNF4A | c.966G>C (p.Leu322Phe) c.1032G>C (p.Leu344Phe) c.1006G>C c.*799G>C (n.*799G>C) c.957G>C (p.Leu319Phe) c.1011G>C (p.Leu337Phe) c.1149G>C (p.Leu383Phe) c.1080G>C (p.Leu360Phe) | |
| 20 | g.44424157G>T | CA409108391 | HNF4A | c.966G>T (p.Leu322Phe) c.1032G>T (p.Leu344Phe) c.1006G>T c.*799G>T (n.*799G>T) c.957G>T (p.Leu319Phe) c.1011G>T (p.Leu337Phe) c.1149G>T (p.Leu383Phe) c.1080G>T (p.Leu360Phe) | |
| 20 | g.44424158C>A | CA409108398 | HNF4A | c.967C>A (p.Gln323Lys) c.1033C>A (p.Gln345Lys) c.1007C>A c.*800C>A (n.*800C>A) c.958C>A (p.Gln320Lys) c.1012C>A (p.Gln338Lys) c.1150C>A (p.Gln384Lys) c.1081C>A (p.Gln361Lys) | |
| 20 | g.44424158C>G | CA409108395 | HNF4A | c.967C>G (p.Gln323Glu) c.1033C>G (p.Gln345Glu) c.1007C>G c.*800C>G (n.*800C>G) c.958C>G (p.Gln320Glu) c.1012C>G (p.Gln338Glu) c.1150C>G (p.Gln384Glu) c.1081C>G (p.Gln361Glu) | |
| 20 | g.44424158C>T | CA409108393 | HNF4A | c.967C>T (p.Gln323Ter) c.1033C>T (p.Gln345Ter) c.1007C>T c.*800C>T (n.*800C>T) c.958C>T (p.Gln320Ter) c.1012C>T (p.Gln338Ter) c.1150C>T (p.Gln384Ter) c.1081C>T (p.Gln361Ter) | |
| 20 | g.44424158_44424159delinsCA | CA2365766423 | HNF4A | c.967_968delinsCA (p.Gln323=) c.1033_1034delinsCA (p.Gln345=) c.1007_1008delinsCA c.*800_*801delinsCA (n.*800_*801delinsCA) c.958_959delinsCA (p.Gln320=) c.1012_1013delinsCA (p.Gln338=) c.1150_1151delinsCA (p.Gln384=) c.1081_1082delinsCA (p.Gln361=) | |
| 20 | g.44424159del | CA658658873 | HNF4A | c.968del (p.Gln323ArgfsTer7) c.1034del (p.Gln345ArgfsTer7) c.1008del c.*801del (n.*801del) c.959del (p.Gln320ArgfsTer7) c.1013del (p.Gln338ArgfsTer7) c.1151del (p.Gln384ArgfsTer7) c.1082del (p.Gln361ArgfsTer7) | ClinVar dbSNP |
| 20 | g.44424159A>C | CA409108400 | HNF4A | c.968A>C (p.Gln323Pro) c.1034A>C (p.Gln345Pro) c.1008A>C c.*801A>C (n.*801A>C) c.959A>C (p.Gln320Pro) c.1013A>C (p.Gln338Pro) c.1151A>C (p.Gln384Pro) c.1082A>C (p.Gln361Pro) | |
| 20 | g.44424159A>G | CA409108402 | HNF4A | c.968A>G (p.Gln323Arg) c.1034A>G (p.Gln345Arg) c.1008A>G c.*801A>G (n.*801A>G) c.959A>G (p.Gln320Arg) c.1013A>G (p.Gln338Arg) c.1151A>G (p.Gln384Arg) c.1082A>G (p.Gln361Arg) | |
| 20 | g.44424159A>T | CA409108403 | HNF4A | c.968A>T (p.Gln323Leu) c.1034A>T (p.Gln345Leu) c.1008A>T c.*801A>T (n.*801A>T) c.959A>T (p.Gln320Leu) c.1013A>T (p.Gln338Leu) c.1151A>T (p.Gln384Leu) c.1082A>T (p.Gln361Leu) | |
| 20 | g.44424160G>A | CA510583007 | HNF4A | c.969G>A (p.Gln323=) c.1035G>A (p.Gln345=) c.1009G>A c.*802G>A (n.*802G>A) c.960G>A (p.Gln320=) c.1014G>A (p.Gln338=) c.1152G>A (p.Gln384=) c.1083G>A (p.Gln361=) | gnomAD v4 |
| 20 | g.44424160G>C | CA409108404 | HNF4A | c.969G>C (p.Gln323His) c.1035G>C (p.Gln345His) c.1009G>C c.*802G>C (n.*802G>C) c.960G>C (p.Gln320His) c.1014G>C (p.Gln338His) c.1152G>C (p.Gln384His) c.1083G>C (p.Gln361His) | |
| 20 | g.44424160G>T | CA409108405 | HNF4A | c.969G>T (p.Gln323His) c.1035G>T (p.Gln345His) c.1009G>T c.*802G>T (n.*802G>T) c.960G>T (p.Gln320His) c.1014G>T (p.Gln338His) c.1152G>T (p.Gln384His) c.1083G>T (p.Gln361His) | |
| 20 | g.44424161A>C | CA409108407 | HNF4A | c.970A>C (p.Ser324Arg) c.1036A>C (p.Ser346Arg) c.1010A>C c.*803A>C (n.*803A>C) c.961A>C (p.Ser321Arg) c.1015A>C (p.Ser339Arg) c.1153A>C (p.Ser385Arg) c.1084A>C (p.Ser362Arg) | |
| 20 | g.44424161A>G | CA409108409 | HNF4A | c.970A>G (p.Ser324Gly) c.1036A>G (p.Ser346Gly) c.1010A>G c.*803A>G (n.*803A>G) c.961A>G (p.Ser321Gly) c.1015A>G (p.Ser339Gly) c.1153A>G (p.Ser385Gly) c.1084A>G (p.Ser362Gly) | |
| 20 | g.44424161A>T | CA409108411 | HNF4A | c.970A>T (p.Ser324Cys) c.1036A>T (p.Ser346Cys) c.1010A>T c.*803A>T (n.*803A>T) c.961A>T (p.Ser321Cys) c.1015A>T (p.Ser339Cys) c.1153A>T (p.Ser385Cys) c.1084A>T (p.Ser362Cys) |