WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.219421440G>A | CA65983588 | DES | n.598G>A n.512G>A c.1124G>A (p.Arg375Gln) n.596G>A n.519G>A c.1121G>A (p.Arg374Gln) c.736-44G>A (n.736-44G>A) c.1055G>A (p.Arg352Gln) c.1103G>A (p.Arg368Gln) c.854G>A (p.Arg285Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.219421440G>C | CA350694390 | DES | n.598G>C n.512G>C c.1124G>C (p.Arg375Pro) n.596G>C n.519G>C c.1121G>C (p.Arg374Pro) c.736-44G>C (n.736-44G>C) c.1055G>C (p.Arg352Pro) c.1103G>C (p.Arg368Pro) c.854G>C (p.Arg285Pro) | |
| 2 | g.219421440G= | CA1329211285 | DES | n.598G= n.512G= c.1124G= (p.Arg375=) n.596G= n.519G= c.1121G= (p.Arg374=) c.736-44G= (n.736-44G=) c.1055G= (p.Arg352=) c.1103G= (p.Arg368=) c.854G= (p.Arg285=) | |
| 2 | g.219421440G>T | CA350694393 | DES | n.598G>T n.512G>T c.1124G>T (p.Arg375Leu) n.596G>T n.519G>T c.1121G>T (p.Arg374Leu) c.736-44G>T (n.736-44G>T) c.1055G>T (p.Arg352Leu) c.1103G>T (p.Arg368Leu) c.854G>T (p.Arg285Leu) | |
| 2 | g.219421441G>A | CA431284385 | DES | n.599G>A n.513G>A c.1125G>A (p.Arg375=) n.597G>A n.520G>A c.1122G>A (p.Arg374=) c.736-43G>A (n.736-43G>A) c.1056G>A (p.Arg352=) c.1104G>A (p.Arg368=) c.855G>A (p.Arg285=) | dbSNP COSMIC |
| 2 | g.219421441G>C | CA431284386 | DES | n.599G>C n.513G>C c.1125G>C (p.Arg375=) n.597G>C n.520G>C c.1122G>C (p.Arg374=) c.736-43G>C (n.736-43G>C) c.1056G>C (p.Arg352=) c.1104G>C (p.Arg368=) c.855G>C (p.Arg285=) | ClinVar |
| 2 | g.219421441G= | CA1329211286 | DES | n.599G= n.513G= c.1125G= (p.Arg375=) n.597G= n.520G= c.1122G= (p.Arg374=) c.736-43G= (n.736-43G=) c.1056G= (p.Arg352=) c.1104G= (p.Arg368=) c.855G= (p.Arg285=) | |
| 2 | g.219421441G>T | CA431284388 | DES | n.599G>T n.513G>T c.1125G>T (p.Arg375=) n.597G>T n.520G>T c.1122G>T (p.Arg374=) c.736-43G>T (n.736-43G>T) c.1056G>T (p.Arg352=) c.1104G>T (p.Arg368=) c.855G>T (p.Arg285=) | |
| 2 | g.219421442C>A | CA350694396 | DES | n.600C>A n.514C>A c.1126C>A (p.His376Asn) n.598C>A n.521C>A c.1123C>A (p.His375Asn) c.736-42C>A (n.736-42C>A) c.1057C>A (p.His353Asn) c.1105C>A (p.His369Asn) c.856C>A (p.His286Asn) | |
| 2 | g.219421442C= | CA1329211287 | DES | n.600C= n.514C= c.1126C= (p.His376=) n.598C= n.521C= c.1123C= (p.His375=) c.736-42C= (n.736-42C=) c.1057C= (p.His353=) c.1105C= (p.His369=) c.856C= (p.His286=) | |
| 2 | g.219421442C>G | CA350694403 | DES | n.600C>G n.514C>G c.1126C>G (p.His376Asp) n.598C>G n.521C>G c.1123C>G (p.His375Asp) c.736-42C>G (n.736-42C>G) c.1057C>G (p.His353Asp) c.1105C>G (p.His369Asp) c.856C>G (p.His286Asp) | ClinVar |
| 2 | g.219421442C>T | CA217020 | DES | n.600C>T n.514C>T c.1126C>T (p.His376Tyr) n.598C>T n.521C>T c.1123C>T (p.His375Tyr) c.736-42C>T (n.736-42C>T) c.1057C>T (p.His353Tyr) c.1105C>T (p.His369Tyr) c.856C>T (p.His286Tyr) | ClinVar dbSNP |
| 2 | g.219421443A>C | CA350694407 | DES | n.601A>C n.515A>C c.1127A>C (p.His376Pro) n.599A>C n.522A>C c.1124A>C (p.His375Pro) c.736-41A>C (n.736-41A>C) c.1058A>C (p.His353Pro) c.1106A>C (p.His369Pro) c.857A>C (p.His286Pro) | |
| 2 | g.219421443A>G | CA350694410 | DES | n.601A>G n.515A>G c.1127A>G (p.His376Arg) n.599A>G n.522A>G c.1124A>G (p.His375Arg) c.736-41A>G (n.736-41A>G) c.1058A>G (p.His353Arg) c.1106A>G (p.His369Arg) c.857A>G (p.His286Arg) | |
| 2 | g.219421443A>T | CA350694413 | DES | n.601A>T n.515A>T c.1127A>T (p.His376Leu) n.599A>T n.522A>T c.1124A>T (p.His375Leu) c.736-41A>T (n.736-41A>T) c.1058A>T (p.His353Leu) c.1106A>T (p.His369Leu) c.857A>T (p.His286Leu) | |
| 2 | g.219421444C>A | CA350694419 | DES | n.602C>A n.516C>A c.1128C>A (p.His376Gln) n.600C>A n.523C>A c.1125C>A (p.His375Gln) c.736-40C>A (n.736-40C>A) c.1059C>A (p.His353Gln) c.1107C>A (p.His369Gln) c.858C>A (p.His286Gln) | |
| 2 | g.219421444C= | CA1329211288 | DES | n.602C= n.516C= c.1128C= (p.His376=) n.600C= n.523C= c.1125C= (p.His375=) c.736-40C= (n.736-40C=) c.1059C= (p.His353=) c.1107C= (p.His369=) c.858C= (p.His286=) | |
| 2 | g.219421444C>G | CA350694420 | DES | n.602C>G n.516C>G c.1128C>G (p.His376Gln) n.600C>G n.523C>G c.1125C>G (p.His375Gln) c.736-40C>G (n.736-40C>G) c.1059C>G (p.His353Gln) c.1107C>G (p.His369Gln) c.858C>G (p.His286Gln) | |
| 2 | g.219421444C>T | CA2125246 | DES | n.602C>T n.516C>T c.1128C>T (p.His376=) n.600C>T n.523C>T c.1125C>T (p.His375=) c.736-40C>T (n.736-40C>T) c.1059C>T (p.His353=) c.1107C>T (p.His369=) c.858C>T (p.His286=) | dbSNP ExAC gnomAD v2 |
| 2 | g.219421445C>A | CA350694427 | DES | n.603C>A n.517C>A c.1129C>A (p.Leu377Ile) n.601C>A n.524C>A c.1126C>A (p.Leu376Ile) c.736-39C>A (n.736-39C>A) c.1060C>A (p.Leu354Ile) c.1108C>A (p.Leu370Ile) c.859C>A (p.Leu287Ile) | |
| 2 | g.219421445C>G | CA350694431 | DES | n.603C>G n.517C>G c.1129C>G (p.Leu377Val) n.601C>G n.524C>G c.1126C>G (p.Leu376Val) c.736-39C>G (n.736-39C>G) c.1060C>G (p.Leu354Val) c.1108C>G (p.Leu370Val) c.859C>G (p.Leu287Val) | |
| 2 | g.219421445C>T | CA350694433 | DES | n.603C>T n.517C>T c.1129C>T (p.Leu377Phe) n.601C>T n.524C>T c.1126C>T (p.Leu376Phe) c.736-39C>T (n.736-39C>T) c.1060C>T (p.Leu354Phe) c.1108C>T (p.Leu370Phe) c.859C>T (p.Leu287Phe) | |
| 2 | g.219421445_219421467delinsCTCAAGGATGAGATGGCCCGCCA | CA1329211289 | DES | n.603_625delinsCTCAAGGATGAGATGGCCCGCCA n.517_539delinsCTCAAGGATGAGATGGCCCGCCA c.1129_1151delinsCTCAAGGATGAGATGGCCCGCCA (p.Leu377=) n.601_623delinsCTCAAGGATGAGATGGCCCGCCA n.524_546delinsCTCAAGGATGAGATGGCCCGCCA c.1126_1148delinsCTCAAGGATGAGATGGCCCGCCA (p.Leu376=) c.736-39_736-17delinsCTCAAGGATGAGATGGCCCGCCA (n.736-39_736-17delinsCTCAAGGATGAGATGGCCCGCCA) c.1060_1082delinsCTCAAGGATGAGATGGCCCGCCA (p.Leu354=) c.1108_1130delinsCTCAAGGATGAGATGGCCCGCCA (p.Leu370=) c.859_881delinsCTCAAGGATGAGATGGCCCGCCA (p.Leu287=) | |
| 2 | g.219421446T>A | CA350694438 | DES | n.604T>A n.518T>A c.1130T>A (p.Leu377His) n.602T>A n.525T>A c.1127T>A (p.Leu376His) c.736-38T>A (n.736-38T>A) c.1061T>A (p.Leu354His) c.1109T>A (p.Leu370His) c.860T>A (p.Leu287His) | |
| 2 | g.219421446T>C | CA350694440 | DES | n.604T>C n.518T>C c.1130T>C (p.Leu377Pro) n.602T>C n.525T>C c.1127T>C (p.Leu376Pro) c.736-38T>C (n.736-38T>C) c.1061T>C (p.Leu354Pro) c.1109T>C (p.Leu370Pro) c.860T>C (p.Leu287Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.219421446T>G | CA350694441 | DES | n.604T>G n.518T>G c.1130T>G (p.Leu377Arg) n.602T>G n.525T>G c.1127T>G (p.Leu376Arg) c.736-38T>G (n.736-38T>G) c.1061T>G (p.Leu354Arg) c.1109T>G (p.Leu370Arg) c.860T>G (p.Leu287Arg) | |
| 2 | g.219421446T= | CA1329211290 | DES | n.604T= n.518T= c.1130T= (p.Leu377=) n.602T= n.525T= c.1127T= (p.Leu376=) c.736-38T= (n.736-38T=) c.1061T= (p.Leu354=) c.1109T= (p.Leu370=) c.860T= (p.Leu287=) | |
| 2 | g.219421448_219421469del | CA915941735 | DES | n.606_627del n.520_541del c.1132_1153del (p.Lys378CysfsTer10) n.604_625del n.527_548del c.1129_1150del (p.Lys377CysfsTer10) c.736-36_736-15del (n.736-36_736-15del) c.1063_1084del (p.Lys355CysfsTer10) c.1111_1132del (p.Lys371CysfsTer10) c.862_883del (p.Lys288CysfsTer10) | ClinVar dbSNP gnomAD v4 |
| 2 | g.219421447C>A | CA431284398 | DES | n.605C>A n.519C>A c.1131C>A (p.Leu377=) n.603C>A n.526C>A c.1128C>A (p.Leu376=) c.736-37C>A (n.736-37C>A) c.1062C>A (p.Leu354=) c.1110C>A (p.Leu370=) c.861C>A (p.Leu287=) | dbSNP |
| 2 | g.219421447C= | CA1329211291 | DES | n.605C= n.519C= c.1131C= (p.Leu377=) n.603C= n.526C= c.1128C= (p.Leu376=) c.736-37C= (n.736-37C=) c.1062C= (p.Leu354=) c.1110C= (p.Leu370=) c.861C= (p.Leu287=) | |
| 2 | g.219421447C>G | CA431284397 | DES | n.605C>G n.519C>G c.1131C>G (p.Leu377=) n.603C>G n.526C>G c.1128C>G (p.Leu376=) c.736-37C>G (n.736-37C>G) c.1062C>G (p.Leu354=) c.1110C>G (p.Leu370=) c.861C>G (p.Leu287=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.219421447C>T | CA431284396 | DES | n.605C>T n.519C>T c.1131C>T (p.Leu377=) n.603C>T n.526C>T c.1128C>T (p.Leu376=) c.736-37C>T (n.736-37C>T) c.1062C>T (p.Leu354=) c.1110C>T (p.Leu370=) c.861C>T (p.Leu287=) | |
| 2 | g.219421448A>C | CA350694450 | DES | n.606A>C n.520A>C c.1132A>C (p.Lys378Gln) n.604A>C n.527A>C c.1129A>C (p.Lys377Gln) c.736-36A>C (n.736-36A>C) c.1063A>C (p.Lys355Gln) c.1111A>C (p.Lys371Gln) c.862A>C (p.Lys288Gln) | |
| 2 | g.219421448A>G | CA350694445 | DES | n.606A>G n.520A>G c.1132A>G (p.Lys378Glu) n.604A>G n.527A>G c.1129A>G (p.Lys377Glu) c.736-36A>G (n.736-36A>G) c.1063A>G (p.Lys355Glu) c.1111A>G (p.Lys371Glu) c.862A>G (p.Lys288Glu) | |
| 2 | g.219421448A>T | CA350694448 | DES | n.606A>T n.520A>T c.1132A>T (p.Lys378Ter) n.604A>T n.527A>T c.1129A>T (p.Lys377Ter) c.736-36A>T (n.736-36A>T) c.1063A>T (p.Lys355Ter) c.1111A>T (p.Lys371Ter) c.862A>T (p.Lys288Ter) | |
| 2 | g.219421449A= | CA1329211292 | DES | n.607A= n.521A= c.1133A= (p.Lys378=) n.605A= n.528A= c.1130A= (p.Lys377=) c.736-35A= (n.736-35A=) c.1064A= (p.Lys355=) c.1112A= (p.Lys371=) c.863A= (p.Lys288=) | |
| 2 | g.219421449A>C | CA237070 | DES | n.607A>C n.521A>C c.1133A>C (p.Lys378Thr) n.605A>C n.528A>C c.1130A>C (p.Lys377Thr) c.736-35A>C (n.736-35A>C) c.1064A>C (p.Lys355Thr) c.1112A>C (p.Lys371Thr) c.863A>C (p.Lys288Thr) | ClinVar dbSNP |
| 2 | g.219421449A>G | CA350694457 | DES | n.607A>G n.521A>G c.1133A>G (p.Lys378Arg) n.605A>G n.528A>G c.1130A>G (p.Lys377Arg) c.736-35A>G (n.736-35A>G) c.1064A>G (p.Lys355Arg) c.1112A>G (p.Lys371Arg) c.863A>G (p.Lys288Arg) | ClinVar dbSNP gnomAD v4 |
| 2 | g.219421449A>T | CA350694463 | DES | n.607A>T n.521A>T c.1133A>T (p.Lys378Met) n.605A>T n.528A>T c.1130A>T (p.Lys377Met) c.736-35A>T (n.736-35A>T) c.1064A>T (p.Lys355Met) c.1112A>T (p.Lys371Met) c.863A>T (p.Lys288Met) | |
| 2 | g.219421450G>A | CA431284402 | DES | n.608G>A n.522G>A c.1134G>A (p.Lys378=) n.606G>A n.529G>A c.1131G>A (p.Lys377=) c.736-34G>A (n.736-34G>A) c.1065G>A (p.Lys355=) c.1113G>A (p.Lys371=) c.864G>A (p.Lys288=) | ClinVar dbSNP |
| 2 | g.219421450G>C | CA350694468 | DES | n.608G>C n.522G>C c.1134G>C (p.Lys378Asn) n.606G>C n.529G>C c.1131G>C (p.Lys377Asn) c.736-34G>C (n.736-34G>C) c.1065G>C (p.Lys355Asn) c.1113G>C (p.Lys371Asn) c.864G>C (p.Lys288Asn) | |
| 2 | g.219421450G= | CA1329211293 | DES | n.608G= n.522G= c.1134G= (p.Lys378=) n.606G= n.529G= c.1131G= (p.Lys377=) c.736-34G= (n.736-34G=) c.1065G= (p.Lys355=) c.1113G= (p.Lys371=) c.864G= (p.Lys288=) | |
| 2 | g.219421450G>T | CA350694471 | DES | n.608G>T n.522G>T c.1134G>T (p.Lys378Asn) n.606G>T n.529G>T c.1131G>T (p.Lys377Asn) c.736-34G>T (n.736-34G>T) c.1065G>T (p.Lys355Asn) c.1113G>T (p.Lys371Asn) c.864G>T (p.Lys288Asn) | |
| 2 | g.219421451G>A | CA350694475 | DES | n.609G>A n.523G>A c.1135G>A (p.Asp379Asn) n.607G>A n.530G>A c.1132G>A (p.Asp378Asn) c.736-33G>A (n.736-33G>A) c.1066G>A (p.Asp356Asn) c.1114G>A (p.Asp372Asn) c.865G>A (p.Asp289Asn) | COSMIC |
| 2 | g.219421451G>C | CA350694478 | DES | n.609G>C n.523G>C c.1135G>C (p.Asp379His) n.607G>C n.530G>C c.1132G>C (p.Asp378His) c.736-33G>C (n.736-33G>C) c.1066G>C (p.Asp356His) c.1114G>C (p.Asp372His) c.865G>C (p.Asp289His) | gnomAD v4 |
| 2 | g.219421451G>T | CA350694481 | DES | n.609G>T n.523G>T c.1135G>T (p.Asp379Tyr) n.607G>T n.530G>T c.1132G>T (p.Asp378Tyr) c.736-33G>T (n.736-33G>T) c.1066G>T (p.Asp356Tyr) c.1114G>T (p.Asp372Tyr) c.865G>T (p.Asp289Tyr) | |
| 2 | g.219421452A= | CA1329211294 | DES | n.610A= n.524A= c.1136A= (p.Asp379=) n.608A= n.531A= c.1133A= (p.Asp378=) c.736-32A= (n.736-32A=) c.1067A= (p.Asp356=) c.1115A= (p.Asp372=) c.866A= (p.Asp289=) | |
| 2 | g.219421452A>C | CA350694485 | DES | n.610A>C n.524A>C c.1136A>C (p.Asp379Ala) n.608A>C n.531A>C c.1133A>C (p.Asp378Ala) c.736-32A>C (n.736-32A>C) c.1067A>C (p.Asp356Ala) c.1115A>C (p.Asp372Ala) c.866A>C (p.Asp289Ala) | |
| 2 | g.219421452A>G | CA350694486 | DES | n.610A>G n.524A>G c.1136A>G (p.Asp379Gly) n.608A>G n.531A>G c.1133A>G (p.Asp378Gly) c.736-32A>G (n.736-32A>G) c.1067A>G (p.Asp356Gly) c.1115A>G (p.Asp372Gly) c.866A>G (p.Asp289Gly) | COSMIC |
| 2 | g.219421452A>T | CA350694487 | DES | n.610A>T n.524A>T c.1136A>T (p.Asp379Val) n.608A>T n.531A>T c.1133A>T (p.Asp378Val) c.736-32A>T (n.736-32A>T) c.1067A>T (p.Asp356Val) c.1115A>T (p.Asp372Val) c.866A>T (p.Asp289Val) | dbSNP gnomAD v4 |