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 |
|---|---|---|---|---|---|
| 4 | g.76112467_76112473del | CA2578118482 | ART3,NUP54 | c.1151_1157del (p.Met384ThrfsTer3) c.*1464_*1470del (n.*1464_*1470del) c.1019_1025del (p.Met340ThrfsTer3) c.1118_1124del (p.Met373ThrfsTer3) c.1052_1058del (p.Met351ThrfsTer3) c.1085_1091del (p.Met362ThrfsTer3) n.253_259del n.349_355del n.316_322del n.558_564del n.660_666del c.1022_1028del (p.Met341ThrfsTer3) c.1121_1127del (p.Met374ThrfsTer3) c.1055_1061del (p.Met352ThrfsTer3) c.995_1001del (p.Met332ThrfsTer3) c.1088_1094del (p.Met363ThrfsTer3) n.2474_2480del n.2915_2921del c.989_995del (p.Met330ThrfsTer3) c.956_962del (p.Met319ThrfsTer3) c.929_935del (p.Met310ThrfsTer3) c.896_902del (p.Met299ThrfsTer3) c.863_869del (p.Met288ThrfsTer3) | |
| 4 | g.76112469_76112472delinsGTCA | CA1469471051 | ART3,NUP54 | c.1153_1156delinsGTCA (p.Val385=) c.*1465_*1468delinsTGAC (n.*1465_*1468delinsTGAC) c.1021_1024delinsGTCA (p.Val341=) c.1120_1123delinsGTCA (p.Val374=) c.1054_1057delinsGTCA (p.Val352=) c.1087_1090delinsGTCA (p.Val363=) n.255_258delinsGTCA n.351_354delinsGTCA n.318_321delinsGTCA n.560_563delinsGTCA n.662_665delinsGTCA c.1024_1027delinsGTCA (p.Val342=) c.1123_1126delinsGTCA (p.Val375=) c.1057_1060delinsGTCA (p.Val353=) c.997_1000delinsGTCA (p.Val333=) c.1090_1093delinsGTCA (p.Val364=) n.2476_2479delinsGTCA n.2917_2920delinsGTCA c.991_994delinsGTCA (p.Val331=) c.958_961delinsGTCA (p.Val320=) c.931_934delinsGTCA (p.Val311=) c.898_901delinsGTCA (p.Val300=) c.865_868delinsGTCA (p.Val289=) | |
| 4 | g.76112474_76112476del | CA2969591 | ART3,NUP54 | c.1158_1160del (p.Ile387del) c.*1465_*1467del (n.*1465_*1467del) c.1026_1028del (p.Ile343del) c.1125_1127del (p.Ile376del) c.1059_1061del (p.Ile354del) c.1092_1094del (p.Ile365del) n.260_262del n.356_358del n.323_325del n.565_567del n.667_669del c.1029_1031del (p.Ile344del) c.1128_1130del (p.Ile377del) c.1062_1064del (p.Ile355del) c.1002_1004del (p.Ile335del) c.1095_1097del (p.Ile366del) n.2481_2483del n.2922_2924del c.996_998del (p.Ile333del) c.963_965del (p.Ile322del) c.936_938del (p.Ile313del) c.903_905del (p.Ile302del) c.870_872del (p.Ile291del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.76112472del | CA2671060518 | ART3,NUP54 | c.1156del (p.Ile386SerfsTer3) c.*1465del (n.*1465del) c.1024del (p.Ile342SerfsTer3) c.1123del (p.Ile375SerfsTer3) c.1057del (p.Ile353SerfsTer3) c.1090del (p.Ile364SerfsTer3) n.258del n.354del n.321del n.563del n.665del c.1027del (p.Ile343SerfsTer3) c.1126del (p.Ile376SerfsTer3) c.1060del (p.Ile354SerfsTer3) c.1000del (p.Ile334SerfsTer3) c.1093del (p.Ile365SerfsTer3) n.2479del n.2920del c.994del (p.Ile332SerfsTer3) c.961del (p.Ile321SerfsTer3) c.934del (p.Ile312SerfsTer3) c.901del (p.Ile301SerfsTer3) c.868del (p.Ile290SerfsTer3) | gnomAD v4 |
| 4 | g.76112472A>C | CA357317213 | ART3,NUP54 | c.1156A>C (p.Ile386Leu) c.*1465T>G (n.*1465T>G) c.1024A>C (p.Ile342Leu) c.1123A>C (p.Ile375Leu) c.1057A>C (p.Ile353Leu) c.1090A>C (p.Ile364Leu) n.258A>C n.354A>C n.321A>C n.563A>C n.665A>C c.1027A>C (p.Ile343Leu) c.1126A>C (p.Ile376Leu) c.1060A>C (p.Ile354Leu) c.1000A>C (p.Ile334Leu) c.1093A>C (p.Ile365Leu) n.2479A>C n.2920A>C c.994A>C (p.Ile332Leu) c.961A>C (p.Ile321Leu) c.934A>C (p.Ile312Leu) c.901A>C (p.Ile301Leu) c.868A>C (p.Ile290Leu) | |
| 4 | g.76112472A>G | CA357317214 | ART3,NUP54 | c.1156A>G (p.Ile386Val) c.*1465T>C (n.*1465T>C) c.1024A>G (p.Ile342Val) c.1123A>G (p.Ile375Val) c.1057A>G (p.Ile353Val) c.1090A>G (p.Ile364Val) n.258A>G n.354A>G n.321A>G n.563A>G n.665A>G c.1027A>G (p.Ile343Val) c.1126A>G (p.Ile376Val) c.1060A>G (p.Ile354Val) c.1000A>G (p.Ile334Val) c.1093A>G (p.Ile365Val) n.2479A>G n.2920A>G c.994A>G (p.Ile332Val) c.961A>G (p.Ile321Val) c.934A>G (p.Ile312Val) c.901A>G (p.Ile301Val) c.868A>G (p.Ile290Val) | |
| 4 | g.76112472A>T | CA357317215 | ART3,NUP54 | c.1156A>T (p.Ile386Phe) c.*1465T>A (n.*1465T>A) c.1024A>T (p.Ile342Phe) c.1123A>T (p.Ile375Phe) c.1057A>T (p.Ile353Phe) c.1090A>T (p.Ile364Phe) n.258A>T n.354A>T n.321A>T n.563A>T n.665A>T c.1027A>T (p.Ile343Phe) c.1126A>T (p.Ile376Phe) c.1060A>T (p.Ile354Phe) c.1000A>T (p.Ile334Phe) c.1093A>T (p.Ile365Phe) n.2479A>T n.2920A>T c.994A>T (p.Ile332Phe) c.961A>T (p.Ile321Phe) c.934A>T (p.Ile312Phe) c.901A>T (p.Ile301Phe) c.868A>T (p.Ile290Phe) | |
| 4 | g.76112473T>A | CA357317216 | ART3,NUP54 | c.1157T>A (p.Ile386Asn) c.*1464A>T (n.*1464A>T) c.1025T>A (p.Ile342Asn) c.1124T>A (p.Ile375Asn) c.1058T>A (p.Ile353Asn) c.1091T>A (p.Ile364Asn) n.259T>A n.355T>A n.322T>A n.564T>A n.666T>A c.1028T>A (p.Ile343Asn) c.1127T>A (p.Ile376Asn) c.1061T>A (p.Ile354Asn) c.1001T>A (p.Ile334Asn) c.1094T>A (p.Ile365Asn) n.2480T>A n.2921T>A c.995T>A (p.Ile332Asn) c.962T>A (p.Ile321Asn) c.935T>A (p.Ile312Asn) c.902T>A (p.Ile301Asn) c.869T>A (p.Ile290Asn) | |
| 4 | g.76112473T>C | CA357317217 | ART3,NUP54 | c.1157T>C (p.Ile386Thr) c.*1464A>G (n.*1464A>G) c.1025T>C (p.Ile342Thr) c.1124T>C (p.Ile375Thr) c.1058T>C (p.Ile353Thr) c.1091T>C (p.Ile364Thr) n.259T>C n.355T>C n.322T>C n.564T>C n.666T>C c.1028T>C (p.Ile343Thr) c.1127T>C (p.Ile376Thr) c.1061T>C (p.Ile354Thr) c.1001T>C (p.Ile334Thr) c.1094T>C (p.Ile365Thr) n.2480T>C n.2921T>C c.995T>C (p.Ile332Thr) c.962T>C (p.Ile321Thr) c.935T>C (p.Ile312Thr) c.902T>C (p.Ile301Thr) c.869T>C (p.Ile290Thr) | |
| 4 | g.76112473T>G | CA357317218 | ART3,NUP54 | c.1157T>G (p.Ile386Ser) c.*1464A>C (n.*1464A>C) c.1025T>G (p.Ile342Ser) c.1124T>G (p.Ile375Ser) c.1058T>G (p.Ile353Ser) c.1091T>G (p.Ile364Ser) n.259T>G n.355T>G n.322T>G n.564T>G n.666T>G c.1028T>G (p.Ile343Ser) c.1127T>G (p.Ile376Ser) c.1061T>G (p.Ile354Ser) c.1001T>G (p.Ile334Ser) c.1094T>G (p.Ile365Ser) n.2480T>G n.2921T>G c.995T>G (p.Ile332Ser) c.962T>G (p.Ile321Ser) c.935T>G (p.Ile312Ser) c.902T>G (p.Ile301Ser) c.869T>G (p.Ile290Ser) | |
| 4 | g.76112474C>A | CA439956030 | ART3,NUP54 | c.1158C>A (p.Ile386=) c.*1463G>T (n.*1463G>T) c.1026C>A (p.Ile342=) c.1125C>A (p.Ile375=) c.1059C>A (p.Ile353=) c.1092C>A (p.Ile364=) n.260C>A n.356C>A n.323C>A n.565C>A n.667C>A c.1029C>A (p.Ile343=) c.1128C>A (p.Ile376=) c.1062C>A (p.Ile354=) c.1002C>A (p.Ile334=) c.1095C>A (p.Ile365=) n.2481C>A n.2922C>A c.996C>A (p.Ile332=) c.963C>A (p.Ile321=) c.936C>A (p.Ile312=) c.903C>A (p.Ile301=) c.870C>A (p.Ile290=) | |
| 4 | g.76112474C>G | CA357317219 | ART3,NUP54 | c.1158C>G (p.Ile386Met) c.*1463G>C (n.*1463G>C) c.1026C>G (p.Ile342Met) c.1125C>G (p.Ile375Met) c.1059C>G (p.Ile353Met) c.1092C>G (p.Ile364Met) n.260C>G n.356C>G n.323C>G n.565C>G n.667C>G c.1029C>G (p.Ile343Met) c.1128C>G (p.Ile376Met) c.1062C>G (p.Ile354Met) c.1002C>G (p.Ile334Met) c.1095C>G (p.Ile365Met) n.2481C>G n.2922C>G c.996C>G (p.Ile332Met) c.963C>G (p.Ile321Met) c.936C>G (p.Ile312Met) c.903C>G (p.Ile301Met) c.870C>G (p.Ile290Met) | gnomAD v4 |
| 4 | g.76112474C>T | CA439956031 | ART3,NUP54 | c.1158C>T (p.Ile386=) c.*1463G>A (n.*1463G>A) c.1026C>T (p.Ile342=) c.1125C>T (p.Ile375=) c.1059C>T (p.Ile353=) c.1092C>T (p.Ile364=) n.260C>T n.356C>T n.323C>T n.565C>T n.667C>T c.1029C>T (p.Ile343=) c.1128C>T (p.Ile376=) c.1062C>T (p.Ile354=) c.1002C>T (p.Ile334=) c.1095C>T (p.Ile365=) n.2481C>T n.2922C>T c.996C>T (p.Ile332=) c.963C>T (p.Ile321=) c.936C>T (p.Ile312=) c.903C>T (p.Ile301=) c.870C>T (p.Ile290=) | COSMIC |
| 4 | g.76112475A>C | CA357317220 | ART3,NUP54 | c.1159A>C (p.Ile387Leu) c.*1462T>G (n.*1462T>G) c.1027A>C (p.Ile343Leu) c.1126A>C (p.Ile376Leu) c.1060A>C (p.Ile354Leu) c.1093A>C (p.Ile365Leu) n.261A>C n.357A>C n.324A>C n.566A>C n.668A>C c.1030A>C (p.Ile344Leu) c.1129A>C (p.Ile377Leu) c.1063A>C (p.Ile355Leu) c.1003A>C (p.Ile335Leu) c.1096A>C (p.Ile366Leu) n.2482A>C n.2923A>C c.997A>C (p.Ile333Leu) c.964A>C (p.Ile322Leu) c.937A>C (p.Ile313Leu) c.904A>C (p.Ile302Leu) c.871A>C (p.Ile291Leu) | |
| 4 | g.76112475A>G | CA357317221 | ART3,NUP54 | c.1159A>G (p.Ile387Val) c.*1462T>C (n.*1462T>C) c.1027A>G (p.Ile343Val) c.1126A>G (p.Ile376Val) c.1060A>G (p.Ile354Val) c.1093A>G (p.Ile365Val) n.261A>G n.357A>G n.324A>G n.566A>G n.668A>G c.1030A>G (p.Ile344Val) c.1129A>G (p.Ile377Val) c.1063A>G (p.Ile355Val) c.1003A>G (p.Ile335Val) c.1096A>G (p.Ile366Val) n.2482A>G n.2923A>G c.997A>G (p.Ile333Val) c.964A>G (p.Ile322Val) c.937A>G (p.Ile313Val) c.904A>G (p.Ile302Val) c.871A>G (p.Ile291Val) | gnomAD v4 |
| 4 | g.76112475A>T | CA357317222 | ART3,NUP54 | c.1159A>T (p.Ile387Phe) c.*1462T>A (n.*1462T>A) c.1027A>T (p.Ile343Phe) c.1126A>T (p.Ile376Phe) c.1060A>T (p.Ile354Phe) c.1093A>T (p.Ile365Phe) n.261A>T n.357A>T n.324A>T n.566A>T n.668A>T c.1030A>T (p.Ile344Phe) c.1129A>T (p.Ile377Phe) c.1063A>T (p.Ile355Phe) c.1003A>T (p.Ile335Phe) c.1096A>T (p.Ile366Phe) n.2482A>T n.2923A>T c.997A>T (p.Ile333Phe) c.964A>T (p.Ile322Phe) c.937A>T (p.Ile313Phe) c.904A>T (p.Ile302Phe) c.871A>T (p.Ile291Phe) | |
| 4 | g.76112476T>A | CA357317223 | ART3,NUP54 | c.1160T>A (p.Ile387Asn) c.*1461A>T (n.*1461A>T) c.1028T>A (p.Ile343Asn) c.1127T>A (p.Ile376Asn) c.1061T>A (p.Ile354Asn) c.1094T>A (p.Ile365Asn) n.262T>A n.358T>A n.325T>A n.567T>A n.669T>A c.1031T>A (p.Ile344Asn) c.1130T>A (p.Ile377Asn) c.1064T>A (p.Ile355Asn) c.1004T>A (p.Ile335Asn) c.1097T>A (p.Ile366Asn) n.2483T>A n.2924T>A c.998T>A (p.Ile333Asn) c.965T>A (p.Ile322Asn) c.938T>A (p.Ile313Asn) c.905T>A (p.Ile302Asn) c.872T>A (p.Ile291Asn) | |
| 4 | g.76112476T>C | CA357317225 | ART3,NUP54 | c.1160T>C (p.Ile387Thr) c.*1461A>G (n.*1461A>G) c.1028T>C (p.Ile343Thr) c.1127T>C (p.Ile376Thr) c.1061T>C (p.Ile354Thr) c.1094T>C (p.Ile365Thr) n.262T>C n.358T>C n.325T>C n.567T>C n.669T>C c.1031T>C (p.Ile344Thr) c.1130T>C (p.Ile377Thr) c.1064T>C (p.Ile355Thr) c.1004T>C (p.Ile335Thr) c.1097T>C (p.Ile366Thr) n.2483T>C n.2924T>C c.998T>C (p.Ile333Thr) c.965T>C (p.Ile322Thr) c.938T>C (p.Ile313Thr) c.905T>C (p.Ile302Thr) c.872T>C (p.Ile291Thr) | |
| 4 | g.76112476T>G | CA357317224 | ART3,NUP54 | c.1160T>G (p.Ile387Ser) c.*1461A>C (n.*1461A>C) c.1028T>G (p.Ile343Ser) c.1127T>G (p.Ile376Ser) c.1061T>G (p.Ile354Ser) c.1094T>G (p.Ile365Ser) n.262T>G n.358T>G n.325T>G n.567T>G n.669T>G c.1031T>G (p.Ile344Ser) c.1130T>G (p.Ile377Ser) c.1064T>G (p.Ile355Ser) c.1004T>G (p.Ile335Ser) c.1097T>G (p.Ile366Ser) n.2483T>G n.2924T>G c.998T>G (p.Ile333Ser) c.965T>G (p.Ile322Ser) c.938T>G (p.Ile313Ser) c.905T>G (p.Ile302Ser) c.872T>G (p.Ile291Ser) | |
| 4 | g.76112477T>A | CA439956034 | ART3,NUP54 | c.1161T>A (p.Ile387=) c.*1460A>T (n.*1460A>T) c.1029T>A (p.Ile343=) c.1128T>A (p.Ile376=) c.1062T>A (p.Ile354=) c.1095T>A (p.Ile365=) n.263T>A n.359T>A n.326T>A n.568T>A n.670T>A c.1032T>A (p.Ile344=) c.1131T>A (p.Ile377=) c.1065T>A (p.Ile355=) c.1005T>A (p.Ile335=) c.1098T>A (p.Ile366=) n.2484T>A n.2925T>A c.999T>A (p.Ile333=) c.966T>A (p.Ile322=) c.939T>A (p.Ile313=) c.906T>A (p.Ile302=) c.873T>A (p.Ile291=) | |
| 4 | g.76112477T>C | CA439956035 | ART3,NUP54 | c.1161T>C (p.Ile387=) c.*1460A>G (n.*1460A>G) c.1029T>C (p.Ile343=) c.1128T>C (p.Ile376=) c.1062T>C (p.Ile354=) c.1095T>C (p.Ile365=) n.263T>C n.359T>C n.326T>C n.568T>C n.670T>C c.1032T>C (p.Ile344=) c.1131T>C (p.Ile377=) c.1065T>C (p.Ile355=) c.1005T>C (p.Ile335=) c.1098T>C (p.Ile366=) n.2484T>C n.2925T>C c.999T>C (p.Ile333=) c.966T>C (p.Ile322=) c.939T>C (p.Ile313=) c.906T>C (p.Ile302=) c.873T>C (p.Ile291=) | |
| 4 | g.76112477T>G | CA357317226 | ART3,NUP54 | c.1161T>G (p.Ile387Met) c.*1460A>C (n.*1460A>C) c.1029T>G (p.Ile343Met) c.1128T>G (p.Ile376Met) c.1062T>G (p.Ile354Met) c.1095T>G (p.Ile365Met) n.263T>G n.359T>G n.326T>G n.568T>G n.670T>G c.1032T>G (p.Ile344Met) c.1131T>G (p.Ile377Met) c.1065T>G (p.Ile355Met) c.1005T>G (p.Ile335Met) c.1098T>G (p.Ile366Met) n.2484T>G n.2925T>G c.999T>G (p.Ile333Met) c.966T>G (p.Ile322Met) c.939T>G (p.Ile313Met) c.906T>G (p.Ile302Met) c.873T>G (p.Ile291Met) | |
| 4 | g.76112478T>A | CA357317227 | ART3,NUP54 | c.1162T>A (p.Leu388Ile) c.*1459A>T (n.*1459A>T) c.1030T>A (p.Leu344Ile) c.1129T>A (p.Leu377Ile) c.1063T>A (p.Leu355Ile) c.1096T>A (p.Leu366Ile) n.264T>A n.360T>A n.327T>A n.569T>A n.671T>A c.1033T>A (p.Leu345Ile) c.1132T>A (p.Leu378Ile) c.1066T>A (p.Leu356Ile) c.1006T>A (p.Leu336Ile) c.1099T>A (p.Leu367Ile) n.2485T>A n.2926T>A c.1000T>A (p.Leu334Ile) c.967T>A (p.Leu323Ile) c.940T>A (p.Leu314Ile) c.907T>A (p.Leu303Ile) c.874T>A (p.Leu292Ile) | |
| 4 | g.76112478T>C | CA439956036 | ART3,NUP54 | c.1162T>C (p.Leu388=) c.*1459A>G (n.*1459A>G) c.1030T>C (p.Leu344=) c.1129T>C (p.Leu377=) c.1063T>C (p.Leu355=) c.1096T>C (p.Leu366=) n.264T>C n.360T>C n.327T>C n.569T>C n.671T>C c.1033T>C (p.Leu345=) c.1132T>C (p.Leu378=) c.1066T>C (p.Leu356=) c.1006T>C (p.Leu336=) c.1099T>C (p.Leu367=) n.2485T>C n.2926T>C c.1000T>C (p.Leu334=) c.967T>C (p.Leu323=) c.940T>C (p.Leu314=) c.907T>C (p.Leu303=) c.874T>C (p.Leu292=) | |
| 4 | g.76112478T>G | CA357317228 | ART3,NUP54 | c.1162T>G (p.Leu388Val) c.*1459A>C (n.*1459A>C) c.1030T>G (p.Leu344Val) c.1129T>G (p.Leu377Val) c.1063T>G (p.Leu355Val) c.1096T>G (p.Leu366Val) n.264T>G n.360T>G n.327T>G n.569T>G n.671T>G c.1033T>G (p.Leu345Val) c.1132T>G (p.Leu378Val) c.1066T>G (p.Leu356Val) c.1006T>G (p.Leu336Val) c.1099T>G (p.Leu367Val) n.2485T>G n.2926T>G c.1000T>G (p.Leu334Val) c.967T>G (p.Leu323Val) c.940T>G (p.Leu314Val) c.907T>G (p.Leu303Val) c.874T>G (p.Leu292Val) | |
| 4 | g.76112479T>A | CA357317229 | ART3,NUP54 | c.1163T>A (p.Leu388Ter) c.*1458A>T (n.*1458A>T) c.1031T>A (p.Leu344Ter) c.1130T>A (p.Leu377Ter) c.1064T>A (p.Leu355Ter) c.1097T>A (p.Leu366Ter) n.265T>A n.361T>A n.328T>A n.570T>A n.672T>A c.1034T>A (p.Leu345Ter) c.1133T>A (p.Leu378Ter) c.1067T>A (p.Leu356Ter) c.1007T>A (p.Leu336Ter) c.1100T>A (p.Leu367Ter) n.2486T>A n.2927T>A c.1001T>A (p.Leu334Ter) c.968T>A (p.Leu323Ter) c.941T>A (p.Leu314Ter) c.908T>A (p.Leu303Ter) c.875T>A (p.Leu292Ter) | |
| 4 | g.76112479T>C | CA357317230 | ART3,NUP54 | c.1163T>C (p.Leu388Ser) c.*1458A>G (n.*1458A>G) c.1031T>C (p.Leu344Ser) c.1130T>C (p.Leu377Ser) c.1064T>C (p.Leu355Ser) c.1097T>C (p.Leu366Ser) n.265T>C n.361T>C n.328T>C n.570T>C n.672T>C c.1034T>C (p.Leu345Ser) c.1133T>C (p.Leu378Ser) c.1067T>C (p.Leu356Ser) c.1007T>C (p.Leu336Ser) c.1100T>C (p.Leu367Ser) n.2486T>C n.2927T>C c.1001T>C (p.Leu334Ser) c.968T>C (p.Leu323Ser) c.941T>C (p.Leu314Ser) c.908T>C (p.Leu303Ser) c.875T>C (p.Leu292Ser) | |
| 4 | g.76112479T>G | CA357317231 | ART3,NUP54 | c.1163T>G (p.Leu388Ter) c.*1458A>C (n.*1458A>C) c.1031T>G (p.Leu344Ter) c.1130T>G (p.Leu377Ter) c.1064T>G (p.Leu355Ter) c.1097T>G (p.Leu366Ter) n.265T>G n.361T>G n.328T>G n.570T>G n.672T>G c.1034T>G (p.Leu345Ter) c.1133T>G (p.Leu378Ter) c.1067T>G (p.Leu356Ter) c.1007T>G (p.Leu336Ter) c.1100T>G (p.Leu367Ter) n.2486T>G n.2927T>G c.1001T>G (p.Leu334Ter) c.968T>G (p.Leu323Ter) c.941T>G (p.Leu314Ter) c.908T>G (p.Leu303Ter) c.875T>G (p.Leu292Ter) | |
| 4 | g.76112480A>C | CA357317232 | ART3,NUP54 | c.1164A>C (p.Leu388Phe) c.*1457T>G (n.*1457T>G) c.1032A>C (p.Leu344Phe) c.1131A>C (p.Leu377Phe) c.1065A>C (p.Leu355Phe) c.1098A>C (p.Leu366Phe) n.266A>C n.362A>C n.329A>C n.571A>C n.673A>C c.1035A>C (p.Leu345Phe) c.1134A>C (p.Leu378Phe) c.1068A>C (p.Leu356Phe) c.1008A>C (p.Leu336Phe) c.1101A>C (p.Leu367Phe) n.2487A>C n.2928A>C c.1002A>C (p.Leu334Phe) c.969A>C (p.Leu323Phe) c.942A>C (p.Leu314Phe) c.909A>C (p.Leu303Phe) c.876A>C (p.Leu292Phe) | |
| 4 | g.76112480A>G | CA439956040 | ART3,NUP54 | c.1164A>G (p.Leu388=) c.*1457T>C (n.*1457T>C) c.1032A>G (p.Leu344=) c.1131A>G (p.Leu377=) c.1065A>G (p.Leu355=) c.1098A>G (p.Leu366=) n.266A>G n.362A>G n.329A>G n.571A>G n.673A>G c.1035A>G (p.Leu345=) c.1134A>G (p.Leu378=) c.1068A>G (p.Leu356=) c.1008A>G (p.Leu336=) c.1101A>G (p.Leu367=) n.2487A>G n.2928A>G c.1002A>G (p.Leu334=) c.969A>G (p.Leu323=) c.942A>G (p.Leu314=) c.909A>G (p.Leu303=) c.876A>G (p.Leu292=) | |
| 4 | g.76112480A>T | CA357317233 | ART3,NUP54 | c.1164A>T (p.Leu388Phe) c.*1457T>A (n.*1457T>A) c.1032A>T (p.Leu344Phe) c.1131A>T (p.Leu377Phe) c.1065A>T (p.Leu355Phe) c.1098A>T (p.Leu366Phe) n.266A>T n.362A>T n.329A>T n.571A>T n.673A>T c.1035A>T (p.Leu345Phe) c.1134A>T (p.Leu378Phe) c.1068A>T (p.Leu356Phe) c.1008A>T (p.Leu336Phe) c.1101A>T (p.Leu367Phe) n.2487A>T n.2928A>T c.1002A>T (p.Leu334Phe) c.969A>T (p.Leu323Phe) c.942A>T (p.Leu314Phe) c.909A>T (p.Leu303Phe) c.876A>T (p.Leu292Phe) | |
| 4 | g.76112481A>C | CA357317234 | ART3,NUP54 | c.1165A>C (p.Ile389Leu) c.*1456T>G (n.*1456T>G) c.1033A>C (p.Ile345Leu) c.1132A>C (p.Ile378Leu) c.1066A>C (p.Ile356Leu) c.1099A>C (p.Ile367Leu) n.267A>C n.363A>C n.330A>C n.572A>C n.674A>C c.1036A>C (p.Ile346Leu) c.1135A>C (p.Ile379Leu) c.1069A>C (p.Ile357Leu) c.1009A>C (p.Ile337Leu) c.1102A>C (p.Ile368Leu) n.2488A>C n.2929A>C c.1003A>C (p.Ile335Leu) c.970A>C (p.Ile324Leu) c.943A>C (p.Ile315Leu) c.910A>C (p.Ile304Leu) c.877A>C (p.Ile293Leu) | |
| 4 | g.76112481A>G | CA357317235 | ART3,NUP54 | c.1165A>G (p.Ile389Val) c.*1456T>C (n.*1456T>C) c.1033A>G (p.Ile345Val) c.1132A>G (p.Ile378Val) c.1066A>G (p.Ile356Val) c.1099A>G (p.Ile367Val) n.267A>G n.363A>G n.330A>G n.572A>G n.674A>G c.1036A>G (p.Ile346Val) c.1135A>G (p.Ile379Val) c.1069A>G (p.Ile357Val) c.1009A>G (p.Ile337Val) c.1102A>G (p.Ile368Val) n.2488A>G n.2929A>G c.1003A>G (p.Ile335Val) c.970A>G (p.Ile324Val) c.943A>G (p.Ile315Val) c.910A>G (p.Ile304Val) c.877A>G (p.Ile293Val) | |
| 4 | g.76112481A>T | CA357317236 | ART3,NUP54 | c.1165A>T (p.Ile389Phe) c.*1456T>A (n.*1456T>A) c.1033A>T (p.Ile345Phe) c.1132A>T (p.Ile378Phe) c.1066A>T (p.Ile356Phe) c.1099A>T (p.Ile367Phe) n.267A>T n.363A>T n.330A>T n.572A>T n.674A>T c.1036A>T (p.Ile346Phe) c.1135A>T (p.Ile379Phe) c.1069A>T (p.Ile357Phe) c.1009A>T (p.Ile337Phe) c.1102A>T (p.Ile368Phe) n.2488A>T n.2929A>T c.1003A>T (p.Ile335Phe) c.970A>T (p.Ile324Phe) c.943A>T (p.Ile315Phe) c.910A>T (p.Ile304Phe) c.877A>T (p.Ile293Phe) | |
| 4 | g.76112482T>A | CA357317238 | ART3,NUP54 | c.1166T>A (p.Ile389Asn) c.*1455A>T (n.*1455A>T) c.1034T>A (p.Ile345Asn) c.1133T>A (p.Ile378Asn) c.1067T>A (p.Ile356Asn) c.1100T>A (p.Ile367Asn) n.268T>A n.364T>A n.331T>A n.573T>A n.675T>A c.1037T>A (p.Ile346Asn) c.1136T>A (p.Ile379Asn) c.1070T>A (p.Ile357Asn) c.1010T>A (p.Ile337Asn) c.1103T>A (p.Ile368Asn) n.2489T>A n.2930T>A c.1004T>A (p.Ile335Asn) c.971T>A (p.Ile324Asn) c.944T>A (p.Ile315Asn) c.911T>A (p.Ile304Asn) c.878T>A (p.Ile293Asn) | |
| 4 | g.76112482T>C | CA357317239 | ART3,NUP54 | c.1166T>C (p.Ile389Thr) c.*1455A>G (n.*1455A>G) c.1034T>C (p.Ile345Thr) c.1133T>C (p.Ile378Thr) c.1067T>C (p.Ile356Thr) c.1100T>C (p.Ile367Thr) n.268T>C n.364T>C n.331T>C n.573T>C n.675T>C c.1037T>C (p.Ile346Thr) c.1136T>C (p.Ile379Thr) c.1070T>C (p.Ile357Thr) c.1010T>C (p.Ile337Thr) c.1103T>C (p.Ile368Thr) n.2489T>C n.2930T>C c.1004T>C (p.Ile335Thr) c.971T>C (p.Ile324Thr) c.944T>C (p.Ile315Thr) c.911T>C (p.Ile304Thr) c.878T>C (p.Ile293Thr) | |
| 4 | g.76112482T>G | CA357317237 | ART3,NUP54 | c.1166T>G (p.Ile389Ser) c.*1455A>C (n.*1455A>C) c.1034T>G (p.Ile345Ser) c.1133T>G (p.Ile378Ser) c.1067T>G (p.Ile356Ser) c.1100T>G (p.Ile367Ser) n.268T>G n.364T>G n.331T>G n.573T>G n.675T>G c.1037T>G (p.Ile346Ser) c.1136T>G (p.Ile379Ser) c.1070T>G (p.Ile357Ser) c.1010T>G (p.Ile337Ser) c.1103T>G (p.Ile368Ser) n.2489T>G n.2930T>G c.1004T>G (p.Ile335Ser) c.971T>G (p.Ile324Ser) c.944T>G (p.Ile315Ser) c.911T>G (p.Ile304Ser) c.878T>G (p.Ile293Ser) | |
| 4 | g.76112483C>A | CA439956042 | ART3,NUP54 | c.1167C>A (p.Ile389=) c.*1454G>T (n.*1454G>T) c.1035C>A (p.Ile345=) c.1134C>A (p.Ile378=) c.1068C>A (p.Ile356=) c.1101C>A (p.Ile367=) n.269C>A n.365C>A n.332C>A n.574C>A n.676C>A c.1038C>A (p.Ile346=) c.1137C>A (p.Ile379=) c.1071C>A (p.Ile357=) c.1011C>A (p.Ile337=) c.1104C>A (p.Ile368=) n.2490C>A n.2931C>A c.1005C>A (p.Ile335=) c.972C>A (p.Ile324=) c.945C>A (p.Ile315=) c.912C>A (p.Ile304=) c.879C>A (p.Ile293=) | |
| 4 | g.76112483C>G | CA357317240 | ART3,NUP54 | c.1167C>G (p.Ile389Met) c.*1454G>C (n.*1454G>C) c.1035C>G (p.Ile345Met) c.1134C>G (p.Ile378Met) c.1068C>G (p.Ile356Met) c.1101C>G (p.Ile367Met) n.269C>G n.365C>G n.332C>G n.574C>G n.676C>G c.1038C>G (p.Ile346Met) c.1137C>G (p.Ile379Met) c.1071C>G (p.Ile357Met) c.1011C>G (p.Ile337Met) c.1104C>G (p.Ile368Met) n.2490C>G n.2931C>G c.1005C>G (p.Ile335Met) c.972C>G (p.Ile324Met) c.945C>G (p.Ile315Met) c.912C>G (p.Ile304Met) c.879C>G (p.Ile293Met) | |
| 4 | g.76112483C>T | CA439956043 | ART3,NUP54 | c.1167C>T (p.Ile389=) c.*1454G>A (n.*1454G>A) c.1035C>T (p.Ile345=) c.1134C>T (p.Ile378=) c.1068C>T (p.Ile356=) c.1101C>T (p.Ile367=) n.269C>T n.365C>T n.332C>T n.574C>T n.676C>T c.1038C>T (p.Ile346=) c.1137C>T (p.Ile379=) c.1071C>T (p.Ile357=) c.1011C>T (p.Ile337=) c.1104C>T (p.Ile368=) n.2490C>T n.2931C>T c.1005C>T (p.Ile335=) c.972C>T (p.Ile324=) c.945C>T (p.Ile315=) c.912C>T (p.Ile304=) c.879C>T (p.Ile293=) | |
| 4 | g.76112484A>C | CA357317241 | ART3,NUP54 | c.1168A>C (p.Ser390Arg) c.*1453T>G (n.*1453T>G) c.1036A>C (p.Ser346Arg) c.1135A>C (p.Ser379Arg) c.1069A>C (p.Ser357Arg) c.1102A>C (p.Ser368Arg) n.270A>C n.366A>C n.333A>C n.575A>C n.677A>C c.1039A>C (p.Ser347Arg) c.1138A>C (p.Ser380Arg) c.1072A>C (p.Ser358Arg) c.1012A>C (p.Ser338Arg) c.1105A>C (p.Ser369Arg) n.2491A>C n.2932A>C c.1006A>C (p.Ser336Arg) c.973A>C (p.Ser325Arg) c.946A>C (p.Ser316Arg) c.913A>C (p.Ser305Arg) c.880A>C (p.Ser294Arg) | |
| 4 | g.76112484A>G | CA357317242 | ART3,NUP54 | c.1168A>G (p.Ser390Gly) c.*1453T>C (n.*1453T>C) c.1036A>G (p.Ser346Gly) c.1135A>G (p.Ser379Gly) c.1069A>G (p.Ser357Gly) c.1102A>G (p.Ser368Gly) n.270A>G n.366A>G n.333A>G n.575A>G n.677A>G c.1039A>G (p.Ser347Gly) c.1138A>G (p.Ser380Gly) c.1072A>G (p.Ser358Gly) c.1012A>G (p.Ser338Gly) c.1105A>G (p.Ser369Gly) n.2491A>G n.2932A>G c.1006A>G (p.Ser336Gly) c.973A>G (p.Ser325Gly) c.946A>G (p.Ser316Gly) c.913A>G (p.Ser305Gly) c.880A>G (p.Ser294Gly) | |
| 4 | g.76112484A>T | CA357317243 | ART3,NUP54 | c.1168A>T (p.Ser390Cys) c.*1453T>A (n.*1453T>A) c.1036A>T (p.Ser346Cys) c.1135A>T (p.Ser379Cys) c.1069A>T (p.Ser357Cys) c.1102A>T (p.Ser368Cys) n.270A>T n.366A>T n.333A>T n.575A>T n.677A>T c.1039A>T (p.Ser347Cys) c.1138A>T (p.Ser380Cys) c.1072A>T (p.Ser358Cys) c.1012A>T (p.Ser338Cys) c.1105A>T (p.Ser369Cys) n.2491A>T n.2932A>T c.1006A>T (p.Ser336Cys) c.973A>T (p.Ser325Cys) c.946A>T (p.Ser316Cys) c.913A>T (p.Ser305Cys) c.880A>T (p.Ser294Cys) | |
| 4 | g.76112485G>A | CA357317244 | ART3,NUP54 | c.1169G>A (p.Ser390Asn) c.*1452C>T (n.*1452C>T) c.1037G>A (p.Ser346Asn) c.1136G>A (p.Ser379Asn) c.1070G>A (p.Ser357Asn) c.1103G>A (p.Ser368Asn) n.271G>A n.367G>A n.334G>A n.576G>A n.678G>A c.1040G>A (p.Ser347Asn) c.1139G>A (p.Ser380Asn) c.1073G>A (p.Ser358Asn) c.1013G>A (p.Ser338Asn) c.1106G>A (p.Ser369Asn) n.2492G>A n.2933G>A c.1007G>A (p.Ser336Asn) c.974G>A (p.Ser325Asn) c.947G>A (p.Ser316Asn) c.914G>A (p.Ser305Asn) c.881G>A (p.Ser294Asn) | |
| 4 | g.76112485G>C | CA357317245 | ART3,NUP54 | c.1169G>C (p.Ser390Thr) c.*1452C>G (n.*1452C>G) c.1037G>C (p.Ser346Thr) c.1136G>C (p.Ser379Thr) c.1070G>C (p.Ser357Thr) c.1103G>C (p.Ser368Thr) n.271G>C n.367G>C n.334G>C n.576G>C n.678G>C c.1040G>C (p.Ser347Thr) c.1139G>C (p.Ser380Thr) c.1073G>C (p.Ser358Thr) c.1013G>C (p.Ser338Thr) c.1106G>C (p.Ser369Thr) n.2492G>C n.2933G>C c.1007G>C (p.Ser336Thr) c.974G>C (p.Ser325Thr) c.947G>C (p.Ser316Thr) c.914G>C (p.Ser305Thr) c.881G>C (p.Ser294Thr) | |
| 4 | g.76112485G= | CA1469471058 | ART3,NUP54 | c.1169G= (p.Ser390=) c.*1452C= (n.*1452C=) c.1037G= (p.Ser346=) c.1136G= (p.Ser379=) c.1070G= (p.Ser357=) c.1103G= (p.Ser368=) n.271G= n.367G= n.334G= n.576G= n.678G= c.1040G= (p.Ser347=) c.1139G= (p.Ser380=) c.1073G= (p.Ser358=) c.1013G= (p.Ser338=) c.1106G= (p.Ser369=) n.2492G= n.2933G= c.1007G= (p.Ser336=) c.974G= (p.Ser325=) c.947G= (p.Ser316=) c.914G= (p.Ser305=) c.881G= (p.Ser294=) | |
| 4 | g.76112485G>T | CA357317246 | ART3,NUP54 | c.1169G>T (p.Ser390Ile) c.*1452C>A (n.*1452C>A) c.1037G>T (p.Ser346Ile) c.1136G>T (p.Ser379Ile) c.1070G>T (p.Ser357Ile) c.1103G>T (p.Ser368Ile) n.271G>T n.367G>T n.334G>T n.576G>T n.678G>T c.1040G>T (p.Ser347Ile) c.1139G>T (p.Ser380Ile) c.1073G>T (p.Ser358Ile) c.1013G>T (p.Ser338Ile) c.1106G>T (p.Ser369Ile) n.2492G>T n.2933G>T c.1007G>T (p.Ser336Ile) c.974G>T (p.Ser325Ile) c.947G>T (p.Ser316Ile) c.914G>T (p.Ser305Ile) c.881G>T (p.Ser294Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.76112486T>A | CA357317247 | ART3,NUP54 | c.1170T>A (p.Ser390Arg) c.*1451A>T (n.*1451A>T) c.1038T>A (p.Ser346Arg) c.1137T>A (p.Ser379Arg) c.1071T>A (p.Ser357Arg) c.1104T>A (p.Ser368Arg) n.272T>A n.368T>A n.335T>A n.577T>A n.679T>A c.1041T>A (p.Ser347Arg) c.1140T>A (p.Ser380Arg) c.1074T>A (p.Ser358Arg) c.1014T>A (p.Ser338Arg) c.1107T>A (p.Ser369Arg) n.2493T>A n.2934T>A c.1008T>A (p.Ser336Arg) c.975T>A (p.Ser325Arg) c.948T>A (p.Ser316Arg) c.915T>A (p.Ser305Arg) c.882T>A (p.Ser294Arg) | |
| 4 | g.76112486T>C | CA439956046 | ART3,NUP54 | c.1170T>C (p.Ser390=) c.*1451A>G (n.*1451A>G) c.1038T>C (p.Ser346=) c.1137T>C (p.Ser379=) c.1071T>C (p.Ser357=) c.1104T>C (p.Ser368=) n.272T>C n.368T>C n.335T>C n.577T>C n.679T>C c.1041T>C (p.Ser347=) c.1140T>C (p.Ser380=) c.1074T>C (p.Ser358=) c.1014T>C (p.Ser338=) c.1107T>C (p.Ser369=) n.2493T>C n.2934T>C c.1008T>C (p.Ser336=) c.975T>C (p.Ser325=) c.948T>C (p.Ser316=) c.915T>C (p.Ser305=) c.882T>C (p.Ser294=) | |
| 4 | g.76112486T>G | CA357317248 | ART3,NUP54 | c.1170T>G (p.Ser390Arg) c.*1451A>C (n.*1451A>C) c.1038T>G (p.Ser346Arg) c.1137T>G (p.Ser379Arg) c.1071T>G (p.Ser357Arg) c.1104T>G (p.Ser368Arg) n.272T>G n.368T>G n.335T>G n.577T>G n.679T>G c.1041T>G (p.Ser347Arg) c.1140T>G (p.Ser380Arg) c.1074T>G (p.Ser358Arg) c.1014T>G (p.Ser338Arg) c.1107T>G (p.Ser369Arg) n.2493T>G n.2934T>G c.1008T>G (p.Ser336Arg) c.975T>G (p.Ser325Arg) c.948T>G (p.Ser316Arg) c.915T>G (p.Ser305Arg) c.882T>G (p.Ser294Arg) |