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 |
|---|---|---|---|---|---|
| 7 | g.74054750_74054761del | CA2683267165 | ELN | c.1131_1142del (p.Ala378_Ala381del) c.1023_1034del (p.Ala342_Ala345del) c.1146_1157del (p.Ala383_Ala386del) c.780_791del (p.Ala261_Ala264del) c.1101_1112del (p.Ala368_Ala371del) c.1089_1100del (p.Ala364_Ala367del) c.1116_1127del (p.Ala373_Ala376del) n.450_461del n.494_505del c.999_1010del (p.Ala334_Ala337del) c.1095_1106del (p.Ala366_Ala369del) c.1110_1121del (p.Ala371_Ala374del) c.1104_1115del (p.Ala369_Ala372del) c.1111+1441_1111+1452del (n.1111+1441_1111+1452del) c.1080_1091del (p.Ala361_Ala364del) c.1065_1076del (p.Ala356_Ala359del) c.1059_1070del (p.Ala354_Ala357del) | gnomAD v4 |
| 7 | g.74054757G>A | CA160108927 | ELN | c.1138G>A (p.Ala380Thr) c.1030G>A (p.Ala344Thr) c.1153G>A (p.Ala385Thr) c.787G>A (p.Ala263Thr) c.1108G>A (p.Ala370Thr) c.1096G>A (p.Ala366Thr) c.1123G>A (p.Ala375Thr) n.457G>A n.501G>A c.1006G>A (p.Ala336Thr) c.1102G>A (p.Ala368Thr) c.1117G>A (p.Ala373Thr) c.1111G>A (p.Ala371Thr) c.1111+1448G>A (n.1111+1448G>A) c.1087G>A (p.Ala363Thr) c.1072G>A (p.Ala358Thr) c.1066G>A (p.Ala356Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.74054757G>C | CA367881540 | ELN | c.1138G>C (p.Ala380Pro) c.1030G>C (p.Ala344Pro) c.1153G>C (p.Ala385Pro) c.787G>C (p.Ala263Pro) c.1108G>C (p.Ala370Pro) c.1096G>C (p.Ala366Pro) c.1123G>C (p.Ala375Pro) n.457G>C n.501G>C c.1006G>C (p.Ala336Pro) c.1102G>C (p.Ala368Pro) c.1117G>C (p.Ala373Pro) c.1111G>C (p.Ala371Pro) c.1111+1448G>C (n.1111+1448G>C) c.1087G>C (p.Ala363Pro) c.1072G>C (p.Ala358Pro) c.1066G>C (p.Ala356Pro) | |
| 7 | g.74054757G= | CA1717345885 | ELN | c.1138G= (p.Ala380=) c.1030G= (p.Ala344=) c.1153G= (p.Ala385=) c.787G= (p.Ala263=) c.1108G= (p.Ala370=) c.1096G= (p.Ala366=) c.1123G= (p.Ala375=) n.457G= n.501G= c.1006G= (p.Ala336=) c.1102G= (p.Ala368=) c.1117G= (p.Ala373=) c.1111G= (p.Ala371=) c.1111+1448G= (n.1111+1448G=) c.1087G= (p.Ala363=) c.1072G= (p.Ala358=) c.1066G= (p.Ala356=) | |
| 7 | g.74054757G>T | CA367881541 | ELN | c.1138G>T (p.Ala380Ser) c.1030G>T (p.Ala344Ser) c.1153G>T (p.Ala385Ser) c.787G>T (p.Ala263Ser) c.1108G>T (p.Ala370Ser) c.1096G>T (p.Ala366Ser) c.1123G>T (p.Ala375Ser) n.457G>T n.501G>T c.1006G>T (p.Ala336Ser) c.1102G>T (p.Ala368Ser) c.1117G>T (p.Ala373Ser) c.1111G>T (p.Ala371Ser) c.1111+1448G>T (n.1111+1448G>T) c.1087G>T (p.Ala363Ser) c.1072G>T (p.Ala358Ser) c.1066G>T (p.Ala356Ser) | gnomAD v4 |
| 7 | g.74054758C>A | CA367881542 | ELN | c.1139C>A (p.Ala380Glu) c.1031C>A (p.Ala344Glu) c.1154C>A (p.Ala385Glu) c.788C>A (p.Ala263Glu) c.1109C>A (p.Ala370Glu) c.1097C>A (p.Ala366Glu) c.1124C>A (p.Ala375Glu) n.458C>A n.502C>A c.1007C>A (p.Ala336Glu) c.1103C>A (p.Ala368Glu) c.1118C>A (p.Ala373Glu) c.1112C>A (p.Ala371Glu) c.1111+1449C>A (n.1111+1449C>A) c.1088C>A (p.Ala363Glu) c.1073C>A (p.Ala358Glu) c.1067C>A (p.Ala356Glu) | |
| 7 | g.74054758C>G | CA367881543 | ELN | c.1139C>G (p.Ala380Gly) c.1031C>G (p.Ala344Gly) c.1154C>G (p.Ala385Gly) c.788C>G (p.Ala263Gly) c.1109C>G (p.Ala370Gly) c.1097C>G (p.Ala366Gly) c.1124C>G (p.Ala375Gly) n.458C>G n.502C>G c.1007C>G (p.Ala336Gly) c.1103C>G (p.Ala368Gly) c.1118C>G (p.Ala373Gly) c.1112C>G (p.Ala371Gly) c.1111+1449C>G (n.1111+1449C>G) c.1088C>G (p.Ala363Gly) c.1073C>G (p.Ala358Gly) c.1067C>G (p.Ala356Gly) | |
| 7 | g.74054758C>T | CA367881546 | ELN | c.1139C>T (p.Ala380Val) c.1031C>T (p.Ala344Val) c.1154C>T (p.Ala385Val) c.788C>T (p.Ala263Val) c.1109C>T (p.Ala370Val) c.1097C>T (p.Ala366Val) c.1124C>T (p.Ala375Val) n.458C>T n.502C>T c.1007C>T (p.Ala336Val) c.1103C>T (p.Ala368Val) c.1118C>T (p.Ala373Val) c.1112C>T (p.Ala371Val) c.1111+1449C>T (n.1111+1449C>T) c.1088C>T (p.Ala363Val) c.1073C>T (p.Ala358Val) c.1067C>T (p.Ala356Val) | gnomAD v4 |
| 7 | g.74054759A>C | CA455883951 | ELN | c.1140A>C (p.Ala380=) c.1032A>C (p.Ala344=) c.1155A>C (p.Ala385=) c.789A>C (p.Ala263=) c.1110A>C (p.Ala370=) c.1098A>C (p.Ala366=) c.1125A>C (p.Ala375=) n.459A>C n.503A>C c.1008A>C (p.Ala336=) c.1104A>C (p.Ala368=) c.1119A>C (p.Ala373=) c.1113A>C (p.Ala371=) c.1111+1450A>C (n.1111+1450A>C) c.1089A>C (p.Ala363=) c.1074A>C (p.Ala358=) c.1068A>C (p.Ala356=) | |
| 7 | g.74054759A>G | CA455883952 | ELN | c.1140A>G (p.Ala380=) c.1032A>G (p.Ala344=) c.1155A>G (p.Ala385=) c.789A>G (p.Ala263=) c.1110A>G (p.Ala370=) c.1098A>G (p.Ala366=) c.1125A>G (p.Ala375=) n.459A>G n.503A>G c.1008A>G (p.Ala336=) c.1104A>G (p.Ala368=) c.1119A>G (p.Ala373=) c.1113A>G (p.Ala371=) c.1111+1450A>G (n.1111+1450A>G) c.1089A>G (p.Ala363=) c.1074A>G (p.Ala358=) c.1068A>G (p.Ala356=) | |
| 7 | g.74054759A>T | CA455883955 | ELN | c.1140A>T (p.Ala380=) c.1032A>T (p.Ala344=) c.1155A>T (p.Ala385=) c.789A>T (p.Ala263=) c.1110A>T (p.Ala370=) c.1098A>T (p.Ala366=) c.1125A>T (p.Ala375=) n.459A>T n.503A>T c.1008A>T (p.Ala336=) c.1104A>T (p.Ala368=) c.1119A>T (p.Ala373=) c.1113A>T (p.Ala371=) c.1111+1450A>T (n.1111+1450A>T) c.1089A>T (p.Ala363=) c.1074A>T (p.Ala358=) c.1068A>T (p.Ala356=) | |
| 7 | g.74054760G>A | CA367881547 | ELN | c.1141G>A (p.Ala381Thr) c.1033G>A (p.Ala345Thr) c.1156G>A (p.Ala386Thr) c.790G>A (p.Ala264Thr) c.1111G>A (p.Ala371Thr) c.1099G>A (p.Ala367Thr) c.1126G>A (p.Ala376Thr) n.460G>A n.504G>A c.1009G>A (p.Ala337Thr) c.1105G>A (p.Ala369Thr) c.1120G>A (p.Ala374Thr) c.1114G>A (p.Ala372Thr) c.1111+1451G>A (n.1111+1451G>A) c.1090G>A (p.Ala364Thr) c.1075G>A (p.Ala359Thr) c.1069G>A (p.Ala357Thr) | |
| 7 | g.74054760G>C | CA367881548 | ELN | c.1141G>C (p.Ala381Pro) c.1033G>C (p.Ala345Pro) c.1156G>C (p.Ala386Pro) c.790G>C (p.Ala264Pro) c.1111G>C (p.Ala371Pro) c.1099G>C (p.Ala367Pro) c.1126G>C (p.Ala376Pro) n.460G>C n.504G>C c.1009G>C (p.Ala337Pro) c.1105G>C (p.Ala369Pro) c.1120G>C (p.Ala374Pro) c.1114G>C (p.Ala372Pro) c.1111+1451G>C (n.1111+1451G>C) c.1090G>C (p.Ala364Pro) c.1075G>C (p.Ala359Pro) c.1069G>C (p.Ala357Pro) | |
| 7 | g.74054760G>T | CA367881549 | ELN | c.1141G>T (p.Ala381Ser) c.1033G>T (p.Ala345Ser) c.1156G>T (p.Ala386Ser) c.790G>T (p.Ala264Ser) c.1111G>T (p.Ala371Ser) c.1099G>T (p.Ala367Ser) c.1126G>T (p.Ala376Ser) n.460G>T n.504G>T c.1009G>T (p.Ala337Ser) c.1105G>T (p.Ala369Ser) c.1120G>T (p.Ala374Ser) c.1114G>T (p.Ala372Ser) c.1111+1451G>T (n.1111+1451G>T) c.1090G>T (p.Ala364Ser) c.1075G>T (p.Ala359Ser) c.1069G>T (p.Ala357Ser) | |
| 7 | g.74054761C>A | CA367881551 | ELN | c.1142C>A (p.Ala381Asp) c.1034C>A (p.Ala345Asp) c.1157C>A (p.Ala386Asp) c.791C>A (p.Ala264Asp) c.1112C>A (p.Ala371Asp) c.1100C>A (p.Ala367Asp) c.1127C>A (p.Ala376Asp) n.461C>A n.505C>A c.1010C>A (p.Ala337Asp) c.1106C>A (p.Ala369Asp) c.1121C>A (p.Ala374Asp) c.1115C>A (p.Ala372Asp) c.1111+1452C>A (n.1111+1452C>A) c.1091C>A (p.Ala364Asp) c.1076C>A (p.Ala359Asp) c.1070C>A (p.Ala357Asp) | |
| 7 | g.74054761C>G | CA367881552 | ELN | c.1142C>G (p.Ala381Gly) c.1034C>G (p.Ala345Gly) c.1157C>G (p.Ala386Gly) c.791C>G (p.Ala264Gly) c.1112C>G (p.Ala371Gly) c.1100C>G (p.Ala367Gly) c.1127C>G (p.Ala376Gly) n.461C>G n.505C>G c.1010C>G (p.Ala337Gly) c.1106C>G (p.Ala369Gly) c.1121C>G (p.Ala374Gly) c.1115C>G (p.Ala372Gly) c.1111+1452C>G (n.1111+1452C>G) c.1091C>G (p.Ala364Gly) c.1076C>G (p.Ala359Gly) c.1070C>G (p.Ala357Gly) | |
| 7 | g.74054761C>T | CA367881550 | ELN | c.1142C>T (p.Ala381Val) c.1034C>T (p.Ala345Val) c.1157C>T (p.Ala386Val) c.791C>T (p.Ala264Val) c.1112C>T (p.Ala371Val) c.1100C>T (p.Ala367Val) c.1127C>T (p.Ala376Val) n.461C>T n.505C>T c.1010C>T (p.Ala337Val) c.1106C>T (p.Ala369Val) c.1121C>T (p.Ala374Val) c.1115C>T (p.Ala372Val) c.1111+1452C>T (n.1111+1452C>T) c.1091C>T (p.Ala364Val) c.1076C>T (p.Ala359Val) c.1070C>T (p.Ala357Val) | |
| 7 | g.74054762C>A | CA455883967 | ELN | c.1143C>A (p.Ala381=) c.1035C>A (p.Ala345=) c.1158C>A (p.Ala386=) c.792C>A (p.Ala264=) c.1113C>A (p.Ala371=) c.1101C>A (p.Ala367=) c.1128C>A (p.Ala376=) n.462C>A n.506C>A c.1011C>A (p.Ala337=) c.1107C>A (p.Ala369=) c.1122C>A (p.Ala374=) c.1116C>A (p.Ala372=) c.1111+1453C>A (n.1111+1453C>A) c.1092C>A (p.Ala364=) c.1077C>A (p.Ala359=) c.1071C>A (p.Ala357=) | |
| 7 | g.74054762C>G | CA455883969 | ELN | c.1143C>G (p.Ala381=) c.1035C>G (p.Ala345=) c.1158C>G (p.Ala386=) c.792C>G (p.Ala264=) c.1113C>G (p.Ala371=) c.1101C>G (p.Ala367=) c.1128C>G (p.Ala376=) n.462C>G n.506C>G c.1011C>G (p.Ala337=) c.1107C>G (p.Ala369=) c.1122C>G (p.Ala374=) c.1116C>G (p.Ala372=) c.1111+1453C>G (n.1111+1453C>G) c.1092C>G (p.Ala364=) c.1077C>G (p.Ala359=) c.1071C>G (p.Ala357=) | |
| 7 | g.74054762C>T | CA455883971 | ELN | c.1143C>T (p.Ala381=) c.1035C>T (p.Ala345=) c.1158C>T (p.Ala386=) c.792C>T (p.Ala264=) c.1113C>T (p.Ala371=) c.1101C>T (p.Ala367=) c.1128C>T (p.Ala376=) n.462C>T n.506C>T c.1011C>T (p.Ala337=) c.1107C>T (p.Ala369=) c.1122C>T (p.Ala374=) c.1116C>T (p.Ala372=) c.1111+1453C>T (n.1111+1453C>T) c.1092C>T (p.Ala364=) c.1077C>T (p.Ala359=) c.1071C>T (p.Ala357=) | |
| 7 | g.74054763A>C | CA367881553 | ELN | c.1144A>C (p.Lys382Gln) c.1036A>C (p.Lys346Gln) c.1159A>C (p.Lys387Gln) c.793A>C (p.Lys265Gln) c.1114A>C (p.Lys372Gln) c.1102A>C (p.Lys368Gln) c.1129A>C (p.Lys377Gln) n.463A>C n.507A>C c.1012A>C (p.Lys338Gln) c.1108A>C (p.Lys370Gln) c.1123A>C (p.Lys375Gln) c.1117A>C (p.Lys373Gln) c.1111+1454A>C (n.1111+1454A>C) c.1093A>C (p.Lys365Gln) c.1078A>C (p.Lys360Gln) c.1072A>C (p.Lys358Gln) | |
| 7 | g.74054763A>G | CA367881554 | ELN | c.1144A>G (p.Lys382Glu) c.1036A>G (p.Lys346Glu) c.1159A>G (p.Lys387Glu) c.793A>G (p.Lys265Glu) c.1114A>G (p.Lys372Glu) c.1102A>G (p.Lys368Glu) c.1129A>G (p.Lys377Glu) n.463A>G n.507A>G c.1012A>G (p.Lys338Glu) c.1108A>G (p.Lys370Glu) c.1123A>G (p.Lys375Glu) c.1117A>G (p.Lys373Glu) c.1111+1454A>G (n.1111+1454A>G) c.1093A>G (p.Lys365Glu) c.1078A>G (p.Lys360Glu) c.1072A>G (p.Lys358Glu) | |
| 7 | g.74054763A>T | CA367881555 | ELN | c.1144A>T (p.Lys382Ter) c.1036A>T (p.Lys346Ter) c.1159A>T (p.Lys387Ter) c.793A>T (p.Lys265Ter) c.1114A>T (p.Lys372Ter) c.1102A>T (p.Lys368Ter) c.1129A>T (p.Lys377Ter) n.463A>T n.507A>T c.1012A>T (p.Lys338Ter) c.1108A>T (p.Lys370Ter) c.1123A>T (p.Lys375Ter) c.1117A>T (p.Lys373Ter) c.1111+1454A>T (n.1111+1454A>T) c.1093A>T (p.Lys365Ter) c.1078A>T (p.Lys360Ter) c.1072A>T (p.Lys358Ter) | |
| 7 | g.74054764A= | CA1717345886 | ELN | c.1145A= (p.Lys382=) c.1037A= (p.Lys346=) c.1160A= (p.Lys387=) c.794A= (p.Lys265=) c.1115A= (p.Lys372=) c.1103A= (p.Lys368=) c.1130A= (p.Lys377=) n.464A= n.508A= c.1013A= (p.Lys338=) c.1109A= (p.Lys370=) c.1124A= (p.Lys375=) c.1118A= (p.Lys373=) c.1111+1455A= (n.1111+1455A=) c.1094A= (p.Lys365=) c.1079A= (p.Lys360=) c.1073A= (p.Lys358=) | |
| 7 | g.74054764A>C | CA367881556 | ELN | c.1145A>C (p.Lys382Thr) c.1037A>C (p.Lys346Thr) c.1160A>C (p.Lys387Thr) c.794A>C (p.Lys265Thr) c.1115A>C (p.Lys372Thr) c.1103A>C (p.Lys368Thr) c.1130A>C (p.Lys377Thr) n.464A>C n.508A>C c.1013A>C (p.Lys338Thr) c.1109A>C (p.Lys370Thr) c.1124A>C (p.Lys375Thr) c.1118A>C (p.Lys373Thr) c.1111+1455A>C (n.1111+1455A>C) c.1094A>C (p.Lys365Thr) c.1079A>C (p.Lys360Thr) c.1073A>C (p.Lys358Thr) | |
| 7 | g.74054764A>G | CA4292858 | ELN | c.1145A>G (p.Lys382Arg) c.1037A>G (p.Lys346Arg) c.1160A>G (p.Lys387Arg) c.794A>G (p.Lys265Arg) c.1115A>G (p.Lys372Arg) c.1103A>G (p.Lys368Arg) c.1130A>G (p.Lys377Arg) n.464A>G n.508A>G c.1013A>G (p.Lys338Arg) c.1109A>G (p.Lys370Arg) c.1124A>G (p.Lys375Arg) c.1118A>G (p.Lys373Arg) c.1111+1455A>G (n.1111+1455A>G) c.1094A>G (p.Lys365Arg) c.1079A>G (p.Lys360Arg) c.1073A>G (p.Lys358Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.74054764A>T | CA367881557 | ELN | c.1145A>T (p.Lys382Ile) c.1037A>T (p.Lys346Ile) c.1160A>T (p.Lys387Ile) c.794A>T (p.Lys265Ile) c.1115A>T (p.Lys372Ile) c.1103A>T (p.Lys368Ile) c.1130A>T (p.Lys377Ile) n.464A>T n.508A>T c.1013A>T (p.Lys338Ile) c.1109A>T (p.Lys370Ile) c.1124A>T (p.Lys375Ile) c.1118A>T (p.Lys373Ile) c.1111+1455A>T (n.1111+1455A>T) c.1094A>T (p.Lys365Ile) c.1079A>T (p.Lys360Ile) c.1073A>T (p.Lys358Ile) | |
| 7 | g.74054765A>C | CA367881558 | ELN | c.1146A>C (p.Lys382Asn) c.1038A>C (p.Lys346Asn) c.1161A>C (p.Lys387Asn) c.795A>C (p.Lys265Asn) c.1116A>C (p.Lys372Asn) c.1104A>C (p.Lys368Asn) c.1131A>C (p.Lys377Asn) n.465A>C n.509A>C c.1014A>C (p.Lys338Asn) c.1110A>C (p.Lys370Asn) c.1125A>C (p.Lys375Asn) c.1119A>C (p.Lys373Asn) c.1111+1456A>C (n.1111+1456A>C) c.1095A>C (p.Lys365Asn) c.1080A>C (p.Lys360Asn) c.1074A>C (p.Lys358Asn) | |
| 7 | g.74054765A>G | CA455883982 | ELN | c.1146A>G (p.Lys382=) c.1038A>G (p.Lys346=) c.1161A>G (p.Lys387=) c.795A>G (p.Lys265=) c.1116A>G (p.Lys372=) c.1104A>G (p.Lys368=) c.1131A>G (p.Lys377=) n.465A>G n.509A>G c.1014A>G (p.Lys338=) c.1110A>G (p.Lys370=) c.1125A>G (p.Lys375=) c.1119A>G (p.Lys373=) c.1111+1456A>G (n.1111+1456A>G) c.1095A>G (p.Lys365=) c.1080A>G (p.Lys360=) c.1074A>G (p.Lys358=) | |
| 7 | g.74054765A>T | CA367881559 | ELN | c.1146A>T (p.Lys382Asn) c.1038A>T (p.Lys346Asn) c.1161A>T (p.Lys387Asn) c.795A>T (p.Lys265Asn) c.1116A>T (p.Lys372Asn) c.1104A>T (p.Lys368Asn) c.1131A>T (p.Lys377Asn) n.465A>T n.509A>T c.1014A>T (p.Lys338Asn) c.1110A>T (p.Lys370Asn) c.1125A>T (p.Lys375Asn) c.1119A>T (p.Lys373Asn) c.1111+1456A>T (n.1111+1456A>T) c.1095A>T (p.Lys365Asn) c.1080A>T (p.Lys360Asn) c.1074A>T (p.Lys358Asn) | |
| 7 | g.74054766T>A | CA367881560 | ELN | c.1147T>A (p.Tyr383Asn) c.1039T>A (p.Tyr347Asn) c.1162T>A (p.Tyr388Asn) c.796T>A (p.Tyr266Asn) c.1117T>A (p.Tyr373Asn) c.1105T>A (p.Tyr369Asn) c.1132T>A (p.Tyr378Asn) n.466T>A n.510T>A c.1015T>A (p.Tyr339Asn) c.1111T>A (p.Tyr371Asn) c.1126T>A (p.Tyr376Asn) c.1120T>A (p.Tyr374Asn) c.1111+1457T>A (n.1111+1457T>A) c.1096T>A (p.Tyr366Asn) c.1081T>A (p.Tyr361Asn) c.1075T>A (p.Tyr359Asn) | |
| 7 | g.74054766T>C | CA367881561 | ELN | c.1147T>C (p.Tyr383His) c.1039T>C (p.Tyr347His) c.1162T>C (p.Tyr388His) c.796T>C (p.Tyr266His) c.1117T>C (p.Tyr373His) c.1105T>C (p.Tyr369His) c.1132T>C (p.Tyr378His) n.466T>C n.510T>C c.1015T>C (p.Tyr339His) c.1111T>C (p.Tyr371His) c.1126T>C (p.Tyr376His) c.1120T>C (p.Tyr374His) c.1111+1457T>C (n.1111+1457T>C) c.1096T>C (p.Tyr366His) c.1081T>C (p.Tyr361His) c.1075T>C (p.Tyr359His) | gnomAD v4 |
| 7 | g.74054766T>G | CA367881562 | ELN | c.1147T>G (p.Tyr383Asp) c.1039T>G (p.Tyr347Asp) c.1162T>G (p.Tyr388Asp) c.796T>G (p.Tyr266Asp) c.1117T>G (p.Tyr373Asp) c.1105T>G (p.Tyr369Asp) c.1132T>G (p.Tyr378Asp) n.466T>G n.510T>G c.1015T>G (p.Tyr339Asp) c.1111T>G (p.Tyr371Asp) c.1126T>G (p.Tyr376Asp) c.1120T>G (p.Tyr374Asp) c.1111+1457T>G (n.1111+1457T>G) c.1096T>G (p.Tyr366Asp) c.1081T>G (p.Tyr361Asp) c.1075T>G (p.Tyr359Asp) | dbSNP |
| 7 | g.74054766T= | CA1717345887 | ELN | c.1147T= (p.Tyr383=) c.1039T= (p.Tyr347=) c.1162T= (p.Tyr388=) c.796T= (p.Tyr266=) c.1117T= (p.Tyr373=) c.1105T= (p.Tyr369=) c.1132T= (p.Tyr378=) n.466T= n.510T= c.1015T= (p.Tyr339=) c.1111T= (p.Tyr371=) c.1126T= (p.Tyr376=) c.1120T= (p.Tyr374=) c.1111+1457T= (n.1111+1457T=) c.1096T= (p.Tyr366=) c.1081T= (p.Tyr361=) c.1075T= (p.Tyr359=) | |
| 7 | g.74054767A>C | CA367881563 | ELN | c.1148A>C (p.Tyr383Ser) c.1040A>C (p.Tyr347Ser) c.1163A>C (p.Tyr388Ser) c.797A>C (p.Tyr266Ser) c.1118A>C (p.Tyr373Ser) c.1106A>C (p.Tyr369Ser) c.1133A>C (p.Tyr378Ser) n.467A>C n.511A>C c.1016A>C (p.Tyr339Ser) c.1112A>C (p.Tyr371Ser) c.1127A>C (p.Tyr376Ser) c.1121A>C (p.Tyr374Ser) c.1111+1458A>C (n.1111+1458A>C) c.1097A>C (p.Tyr366Ser) c.1082A>C (p.Tyr361Ser) c.1076A>C (p.Tyr359Ser) | |
| 7 | g.74054767A>G | CA367881564 | ELN | c.1148A>G (p.Tyr383Cys) c.1040A>G (p.Tyr347Cys) c.1163A>G (p.Tyr388Cys) c.797A>G (p.Tyr266Cys) c.1118A>G (p.Tyr373Cys) c.1106A>G (p.Tyr369Cys) c.1133A>G (p.Tyr378Cys) n.467A>G n.511A>G c.1016A>G (p.Tyr339Cys) c.1112A>G (p.Tyr371Cys) c.1127A>G (p.Tyr376Cys) c.1121A>G (p.Tyr374Cys) c.1111+1458A>G (n.1111+1458A>G) c.1097A>G (p.Tyr366Cys) c.1082A>G (p.Tyr361Cys) c.1076A>G (p.Tyr359Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.74054767A>T | CA367881565 | ELN | c.1148A>T (p.Tyr383Phe) c.1040A>T (p.Tyr347Phe) c.1163A>T (p.Tyr388Phe) c.797A>T (p.Tyr266Phe) c.1118A>T (p.Tyr373Phe) c.1106A>T (p.Tyr369Phe) c.1133A>T (p.Tyr378Phe) n.467A>T n.511A>T c.1016A>T (p.Tyr339Phe) c.1112A>T (p.Tyr371Phe) c.1127A>T (p.Tyr376Phe) c.1121A>T (p.Tyr374Phe) c.1111+1458A>T (n.1111+1458A>T) c.1097A>T (p.Tyr366Phe) c.1082A>T (p.Tyr361Phe) c.1076A>T (p.Tyr359Phe) | |
| 7 | g.74054768C>A | CA367881566 | ELN | c.1149C>A (p.Tyr383Ter) c.1041C>A (p.Tyr347Ter) c.1164C>A (p.Tyr388Ter) c.798C>A (p.Tyr266Ter) c.1119C>A (p.Tyr373Ter) c.1107C>A (p.Tyr369Ter) c.1134C>A (p.Tyr378Ter) n.468C>A n.512C>A c.1017C>A (p.Tyr339Ter) c.1113C>A (p.Tyr371Ter) c.1128C>A (p.Tyr376Ter) c.1122C>A (p.Tyr374Ter) c.1111+1459C>A (n.1111+1459C>A) c.1098C>A (p.Tyr366Ter) c.1083C>A (p.Tyr361Ter) c.1077C>A (p.Tyr359Ter) | ClinVar dbSNP |
| 7 | g.74054768C= | CA1717345888 | ELN | c.1149C= (p.Tyr383=) c.1041C= (p.Tyr347=) c.1164C= (p.Tyr388=) c.798C= (p.Tyr266=) c.1119C= (p.Tyr373=) c.1107C= (p.Tyr369=) c.1134C= (p.Tyr378=) n.468C= n.512C= c.1017C= (p.Tyr339=) c.1113C= (p.Tyr371=) c.1128C= (p.Tyr376=) c.1122C= (p.Tyr374=) c.1111+1459C= (n.1111+1459C=) c.1098C= (p.Tyr366=) c.1083C= (p.Tyr361=) c.1077C= (p.Tyr359=) | |
| 7 | g.74054768C>G | CA367881567 | ELN | c.1149C>G (p.Tyr383Ter) c.1041C>G (p.Tyr347Ter) c.1164C>G (p.Tyr388Ter) c.798C>G (p.Tyr266Ter) c.1119C>G (p.Tyr373Ter) c.1107C>G (p.Tyr369Ter) c.1134C>G (p.Tyr378Ter) n.468C>G n.512C>G c.1017C>G (p.Tyr339Ter) c.1113C>G (p.Tyr371Ter) c.1128C>G (p.Tyr376Ter) c.1122C>G (p.Tyr374Ter) c.1111+1459C>G (n.1111+1459C>G) c.1098C>G (p.Tyr366Ter) c.1083C>G (p.Tyr361Ter) c.1077C>G (p.Tyr359Ter) | |
| 7 | g.74054768C>T | CA4292859 | ELN | c.1149C>T (p.Tyr383=) c.1041C>T (p.Tyr347=) c.1164C>T (p.Tyr388=) c.798C>T (p.Tyr266=) c.1119C>T (p.Tyr373=) c.1107C>T (p.Tyr369=) c.1134C>T (p.Tyr378=) n.468C>T n.512C>T c.1017C>T (p.Tyr339=) c.1113C>T (p.Tyr371=) c.1128C>T (p.Tyr376=) c.1122C>T (p.Tyr374=) c.1111+1459C>T (n.1111+1459C>T) c.1098C>T (p.Tyr366=) c.1083C>T (p.Tyr361=) c.1077C>T (p.Tyr359=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.74054769G>A | CA4292860 | ELN | c.1150G>A (p.Gly384Arg) c.1042G>A (p.Gly348Arg) c.1165G>A (p.Gly389Arg) c.799G>A (p.Gly267Arg) c.1120G>A (p.Gly374Arg) c.1108G>A (p.Gly370Arg) c.1135G>A (p.Gly379Arg) n.469G>A n.513G>A c.1018G>A (p.Gly340Arg) c.1114G>A (p.Gly372Arg) c.1129G>A (p.Gly377Arg) c.1123G>A (p.Gly375Arg) c.1111+1460G>A (n.1111+1460G>A) c.1099G>A (p.Gly367Arg) c.1084G>A (p.Gly362Arg) c.1078G>A (p.Gly360Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.74054769G>C | CA367881568 | ELN | c.1150G>C (p.Gly384Arg) c.1042G>C (p.Gly348Arg) c.1165G>C (p.Gly389Arg) c.799G>C (p.Gly267Arg) c.1120G>C (p.Gly374Arg) c.1108G>C (p.Gly370Arg) c.1135G>C (p.Gly379Arg) n.469G>C n.513G>C c.1018G>C (p.Gly340Arg) c.1114G>C (p.Gly372Arg) c.1129G>C (p.Gly377Arg) c.1123G>C (p.Gly375Arg) c.1111+1460G>C (n.1111+1460G>C) c.1099G>C (p.Gly367Arg) c.1084G>C (p.Gly362Arg) c.1078G>C (p.Gly360Arg) | |
| 7 | g.74054769G= | CA1717345889 | ELN | c.1150G= (p.Gly384=) c.1042G= (p.Gly348=) c.1165G= (p.Gly389=) c.799G= (p.Gly267=) c.1120G= (p.Gly374=) c.1108G= (p.Gly370=) c.1135G= (p.Gly379=) n.469G= n.513G= c.1018G= (p.Gly340=) c.1114G= (p.Gly372=) c.1129G= (p.Gly377=) c.1123G= (p.Gly375=) c.1111+1460G= (n.1111+1460G=) c.1099G= (p.Gly367=) c.1084G= (p.Gly362=) c.1078G= (p.Gly360=) | |
| 7 | g.74054769G>T | CA367881569 | ELN | c.1150G>T (p.Gly384Trp) c.1042G>T (p.Gly348Trp) c.1165G>T (p.Gly389Trp) c.799G>T (p.Gly267Trp) c.1120G>T (p.Gly374Trp) c.1108G>T (p.Gly370Trp) c.1135G>T (p.Gly379Trp) n.469G>T n.513G>T c.1018G>T (p.Gly340Trp) c.1114G>T (p.Gly372Trp) c.1129G>T (p.Gly377Trp) c.1123G>T (p.Gly375Trp) c.1111+1460G>T (n.1111+1460G>T) c.1099G>T (p.Gly367Trp) c.1084G>T (p.Gly362Trp) c.1078G>T (p.Gly360Trp) | |
| 7 | g.74054770G>A | CA281474 | ELN | c.1150+1G>A (n.1150+1G>A) c.1042+1G>A (n.1042+1G>A) c.1165+1G>A (n.1165+1G>A) c.799+1G>A (n.799+1G>A) c.1120+1G>A (n.1120+1G>A) c.1108+1G>A (n.1108+1G>A) c.1135+1G>A (n.1135+1G>A) n.469+1G>A n.513+1G>A c.1018+1G>A (n.1018+1G>A) c.1114+1G>A (n.1114+1G>A) c.1129+1G>A (n.1129+1G>A) c.1123+1G>A (n.1123+1G>A) c.1111+1461G>A (n.1111+1461G>A) c.1099+1G>A (n.1099+1G>A) c.1084+1G>A (n.1084+1G>A) c.1078+1G>A (n.1078+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.74054770G>C | CA367881570 | ELN | c.1150+1G>C (n.1150+1G>C) c.1042+1G>C (n.1042+1G>C) c.1165+1G>C (n.1165+1G>C) c.799+1G>C (n.799+1G>C) c.1120+1G>C (n.1120+1G>C) c.1108+1G>C (n.1108+1G>C) c.1135+1G>C (n.1135+1G>C) n.469+1G>C n.513+1G>C c.1018+1G>C (n.1018+1G>C) c.1114+1G>C (n.1114+1G>C) c.1129+1G>C (n.1129+1G>C) c.1123+1G>C (n.1123+1G>C) c.1111+1461G>C (n.1111+1461G>C) c.1099+1G>C (n.1099+1G>C) c.1084+1G>C (n.1084+1G>C) c.1078+1G>C (n.1078+1G>C) | |
| 7 | g.74054770G= | CA1717345890 | ELN | c.1150+1G= (n.1150+1G=) c.1042+1G= (n.1042+1G=) c.1165+1G= (n.1165+1G=) c.799+1G= (n.799+1G=) c.1120+1G= (n.1120+1G=) c.1108+1G= (n.1108+1G=) c.1135+1G= (n.1135+1G=) n.469+1G= n.513+1G= c.1018+1G= (n.1018+1G=) c.1114+1G= (n.1114+1G=) c.1129+1G= (n.1129+1G=) c.1123+1G= (n.1123+1G=) c.1111+1461G= (n.1111+1461G=) c.1099+1G= (n.1099+1G=) c.1084+1G= (n.1084+1G=) c.1078+1G= (n.1078+1G=) | |
| 7 | g.74054770G>T | CA367881571 | ELN | c.1150+1G>T (n.1150+1G>T) c.1042+1G>T (n.1042+1G>T) c.1165+1G>T (n.1165+1G>T) c.799+1G>T (n.799+1G>T) c.1120+1G>T (n.1120+1G>T) c.1108+1G>T (n.1108+1G>T) c.1135+1G>T (n.1135+1G>T) n.469+1G>T n.513+1G>T c.1018+1G>T (n.1018+1G>T) c.1114+1G>T (n.1114+1G>T) c.1129+1G>T (n.1129+1G>T) c.1123+1G>T (n.1123+1G>T) c.1111+1461G>T (n.1111+1461G>T) c.1099+1G>T (n.1099+1G>T) c.1084+1G>T (n.1084+1G>T) c.1078+1G>T (n.1078+1G>T) | |
| 7 | g.74054771T>A | CA367881572 | ELN | c.1150+2T>A (n.1150+2T>A) c.1042+2T>A (n.1042+2T>A) c.1165+2T>A (n.1165+2T>A) c.799+2T>A (n.799+2T>A) c.1120+2T>A (n.1120+2T>A) c.1108+2T>A (n.1108+2T>A) c.1135+2T>A (n.1135+2T>A) n.469+2T>A n.513+2T>A c.1018+2T>A (n.1018+2T>A) c.1114+2T>A (n.1114+2T>A) c.1129+2T>A (n.1129+2T>A) c.1123+2T>A (n.1123+2T>A) c.1111+1462T>A (n.1111+1462T>A) c.1099+2T>A (n.1099+2T>A) c.1084+2T>A (n.1084+2T>A) c.1078+2T>A (n.1078+2T>A) |