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.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.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) | |
| 20 | g.44424162G>A | CA409108414 | HNF4A | c.971G>A (p.Ser324Asn) c.1037G>A (p.Ser346Asn) c.1011G>A c.*804G>A (n.*804G>A) c.962G>A (p.Ser321Asn) c.1016G>A (p.Ser339Asn) c.1154G>A (p.Ser385Asn) c.1085G>A (p.Ser362Asn) | |
| 20 | g.44424162G>C | CA409108416 | HNF4A | c.971G>C (p.Ser324Thr) c.1037G>C (p.Ser346Thr) c.1011G>C c.*804G>C (n.*804G>C) c.962G>C (p.Ser321Thr) c.1016G>C (p.Ser339Thr) c.1154G>C (p.Ser385Thr) c.1085G>C (p.Ser362Thr) | |
| 20 | g.44424162G>T | CA409108418 | HNF4A | c.971G>T (p.Ser324Ile) c.1037G>T (p.Ser346Ile) c.1011G>T c.*804G>T (n.*804G>T) c.962G>T (p.Ser321Ile) c.1016G>T (p.Ser339Ile) c.1154G>T (p.Ser385Ile) c.1085G>T (p.Ser362Ile) | |
| 20 | g.44424163C>A | CA409108419 | HNF4A | c.972C>A (p.Ser324Arg) c.1038C>A (p.Ser346Arg) c.1012C>A c.*805C>A (n.*805C>A) c.963C>A (p.Ser321Arg) c.1017C>A (p.Ser339Arg) c.1155C>A (p.Ser385Arg) c.1086C>A (p.Ser362Arg) | |
| 20 | g.44424163C>G | CA409108420 | HNF4A | c.972C>G (p.Ser324Arg) c.1038C>G (p.Ser346Arg) c.1012C>G c.*805C>G (n.*805C>G) c.963C>G (p.Ser321Arg) c.1017C>G (p.Ser339Arg) c.1155C>G (p.Ser385Arg) c.1086C>G (p.Ser362Arg) | |
| 20 | g.44424163C>T | CA510583008 | HNF4A | c.972C>T (p.Ser324=) c.1038C>T (p.Ser346=) c.1012C>T c.*805C>T (n.*805C>T) c.963C>T (p.Ser321=) c.1017C>T (p.Ser339=) c.1155C>T (p.Ser385=) c.1086C>T (p.Ser362=) | |
| 20 | g.44424164A>C | CA409108426 | HNF4A | c.973A>C (p.Ile325Leu) c.1039A>C (p.Ile347Leu) c.1013A>C c.*806A>C (n.*806A>C) c.964A>C (p.Ile322Leu) c.1018A>C (p.Ile340Leu) c.1156A>C (p.Ile386Leu) c.1087A>C (p.Ile363Leu) | |
| 20 | g.44424164A>G | CA409108425 | HNF4A | c.973A>G (p.Ile325Val) c.1039A>G (p.Ile347Val) c.1013A>G c.*806A>G (n.*806A>G) c.964A>G (p.Ile322Val) c.1018A>G (p.Ile340Val) c.1156A>G (p.Ile386Val) c.1087A>G (p.Ile363Val) | gnomAD v4 |
| 20 | g.44424164A>T | CA409108423 | HNF4A | c.973A>T (p.Ile325Phe) c.1039A>T (p.Ile347Phe) c.1013A>T c.*806A>T (n.*806A>T) c.964A>T (p.Ile322Phe) c.1018A>T (p.Ile340Phe) c.1156A>T (p.Ile386Phe) c.1087A>T (p.Ile363Phe) | |
| 20 | g.44424165T>A | CA409108431 | HNF4A | c.974T>A (p.Ile325Asn) c.1040T>A (p.Ile347Asn) c.1014T>A c.*807T>A (n.*807T>A) c.965T>A (p.Ile322Asn) c.1019T>A (p.Ile340Asn) c.1157T>A (p.Ile386Asn) c.1088T>A (p.Ile363Asn) | |
| 20 | g.44424165T>C | CA409108428 | HNF4A | c.974T>C (p.Ile325Thr) c.1040T>C (p.Ile347Thr) c.1014T>C c.*807T>C (n.*807T>C) c.965T>C (p.Ile322Thr) c.1019T>C (p.Ile340Thr) c.1157T>C (p.Ile386Thr) c.1088T>C (p.Ile363Thr) | |
| 20 | g.44424165T>G | CA409108430 | HNF4A | c.974T>G (p.Ile325Ser) c.1040T>G (p.Ile347Ser) c.1014T>G c.*807T>G (n.*807T>G) c.965T>G (p.Ile322Ser) c.1019T>G (p.Ile340Ser) c.1157T>G (p.Ile386Ser) c.1088T>G (p.Ile363Ser) | |
| 20 | g.44424166C>A | CA510583009 | HNF4A | c.975C>A (p.Ile325=) c.1041C>A (p.Ile347=) c.1015C>A c.*808C>A (n.*808C>A) c.966C>A (p.Ile322=) c.1020C>A (p.Ile340=) c.1158C>A (p.Ile386=) c.1089C>A (p.Ile363=) | |
| 20 | g.44424166C>G | CA409108433 | HNF4A | c.975C>G (p.Ile325Met) c.1041C>G (p.Ile347Met) c.1015C>G c.*808C>G (n.*808C>G) c.966C>G (p.Ile322Met) c.1020C>G (p.Ile340Met) c.1158C>G (p.Ile386Met) c.1089C>G (p.Ile363Met) |