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 |
|---|---|---|---|---|---|
| 1 | g.173908360_173915405del | CA2573051419 | SERPINC1 | c.42-486_1154-846del c.42-486_560-867del c.-272-219_1010-846del c.42-486_1277-846del c.123-486_1235-846del c.42-486_1133-846del c.42-486_1097-846del c.42-486_938-846del | ClinVar |
| 1 | g.173909554G>A | CA1251275 | SERPINC1 | c.1151C>T (p.Pro384Leu) c.560-2061C>T (n.560-2061C>T) c.1007C>T (p.Pro336Leu) c.1274C>T (p.Pro425Leu) c.1232C>T (p.Pro411Leu) c.1130C>T (p.Pro377Leu) c.1094C>T (p.Pro365Leu) c.935C>T (p.Pro312Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173909554G>C | CA343773460 | SERPINC1 | c.1151C>G (p.Pro384Arg) c.560-2061C>G (n.560-2061C>G) c.1007C>G (p.Pro336Arg) c.1274C>G (p.Pro425Arg) c.1232C>G (p.Pro411Arg) c.1130C>G (p.Pro377Arg) c.1094C>G (p.Pro365Arg) c.935C>G (p.Pro312Arg) | |
| 1 | g.173909554G= | CA1207936893 | SERPINC1 | c.1151C= (p.Pro384=) c.560-2061C= (n.560-2061C=) c.1007C= (p.Pro336=) c.1274C= (p.Pro425=) c.1232C= (p.Pro411=) c.1130C= (p.Pro377=) c.1094C= (p.Pro365=) c.935C= (p.Pro312=) | |
| 1 | g.173909554G>T | CA343773461 | SERPINC1 | c.1151C>A (p.Pro384Gln) c.560-2061C>A (n.560-2061C>A) c.1007C>A (p.Pro336Gln) c.1274C>A (p.Pro425Gln) c.1232C>A (p.Pro411Gln) c.1130C>A (p.Pro377Gln) c.1094C>A (p.Pro365Gln) c.935C>A (p.Pro312Gln) | |
| 1 | g.173909555G>A | CA343773462 | SERPINC1 | c.1150C>T (p.Pro384Ser) c.560-2062C>T (n.560-2062C>T) c.1006C>T (p.Pro336Ser) c.1273C>T (p.Pro425Ser) c.1231C>T (p.Pro411Ser) c.1129C>T (p.Pro377Ser) c.1093C>T (p.Pro365Ser) c.934C>T (p.Pro312Ser) | gnomAD v4 |
| 1 | g.173909555G>C | CA343773463 | SERPINC1 | c.1150C>G (p.Pro384Ala) c.560-2062C>G (n.560-2062C>G) c.1006C>G (p.Pro336Ala) c.1273C>G (p.Pro425Ala) c.1231C>G (p.Pro411Ala) c.1129C>G (p.Pro377Ala) c.1093C>G (p.Pro365Ala) c.934C>G (p.Pro312Ala) | |
| 1 | g.173909555G>T | CA343773464 | SERPINC1 | c.1150C>A (p.Pro384Thr) c.560-2062C>A (n.560-2062C>A) c.1006C>A (p.Pro336Thr) c.1273C>A (p.Pro425Thr) c.1231C>A (p.Pro411Thr) c.1129C>A (p.Pro377Thr) c.1093C>A (p.Pro365Thr) c.934C>A (p.Pro312Thr) | |
| 1 | g.173909556G>A | CA421942775 | SERPINC1 | c.1149C>T (p.Leu383=) c.560-2063C>T (n.560-2063C>T) c.1005C>T (p.Leu335=) c.1272C>T (p.Leu424=) c.1230C>T (p.Leu410=) c.1128C>T (p.Leu376=) c.1092C>T (p.Leu364=) c.933C>T (p.Leu311=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.173909556G>C | CA421942776 | SERPINC1 | c.1149C>G (p.Leu383=) c.560-2063C>G (n.560-2063C>G) c.1005C>G (p.Leu335=) c.1272C>G (p.Leu424=) c.1230C>G (p.Leu410=) c.1128C>G (p.Leu376=) c.1092C>G (p.Leu364=) c.933C>G (p.Leu311=) | |
| 1 | g.173909556G= | CA1207936894 | SERPINC1 | c.1149C= (p.Leu383=) c.560-2063C= (n.560-2063C=) c.1005C= (p.Leu335=) c.1272C= (p.Leu424=) c.1230C= (p.Leu410=) c.1128C= (p.Leu376=) c.1092C= (p.Leu364=) c.933C= (p.Leu311=) | |
| 1 | g.173909556G>T | CA421942777 | SERPINC1 | c.1149C>A (p.Leu383=) c.560-2063C>A (n.560-2063C>A) c.1005C>A (p.Leu335=) c.1272C>A (p.Leu424=) c.1230C>A (p.Leu410=) c.1128C>A (p.Leu376=) c.1092C>A (p.Leu364=) c.933C>A (p.Leu311=) | |
| 1 | g.173909557_173909558del | CA2586964400 | SERPINC1 | c.1148_1149del (p.Leu383ProfsTer10) c.560-2064_560-2063del (n.560-2064_560-2063del) c.1004_1005del (p.Leu335ProfsTer10) c.1271_1272del (p.Leu424ProfsTer10) c.1229_1230del (p.Leu410ProfsTer10) c.1127_1128del (p.Leu376ProfsTer10) c.1091_1092del (p.Leu364ProfsTer10) c.932_933del (p.Leu311ProfsTer10) | |
| 1 | g.173909557A>C | CA343773466 | SERPINC1 | c.1148T>G (p.Leu383Arg) c.560-2064T>G (n.560-2064T>G) c.1004T>G (p.Leu335Arg) c.1271T>G (p.Leu424Arg) c.1229T>G (p.Leu410Arg) c.1127T>G (p.Leu376Arg) c.1091T>G (p.Leu364Arg) c.932T>G (p.Leu311Arg) | |
| 1 | g.173909557A>G | CA343773467 | SERPINC1 | c.1148T>C (p.Leu383Pro) c.560-2064T>C (n.560-2064T>C) c.1004T>C (p.Leu335Pro) c.1271T>C (p.Leu424Pro) c.1229T>C (p.Leu410Pro) c.1127T>C (p.Leu376Pro) c.1091T>C (p.Leu364Pro) c.932T>C (p.Leu311Pro) | |
| 1 | g.173909557A>T | CA343773465 | SERPINC1 | c.1148T>A (p.Leu383His) c.560-2064T>A (n.560-2064T>A) c.1004T>A (p.Leu335His) c.1271T>A (p.Leu424His) c.1229T>A (p.Leu410His) c.1127T>A (p.Leu376His) c.1091T>A (p.Leu364His) c.932T>A (p.Leu311His) | |
| 1 | g.173909558del | CA2586964401 | SERPINC1 | c.1147del (p.Leu383SerfsTer25) c.560-2065del (n.560-2065del) c.1003del (p.Leu335SerfsTer25) c.1270del (p.Leu424SerfsTer25) c.1228del (p.Leu410SerfsTer25) c.1126del (p.Leu376SerfsTer25) c.1090del (p.Leu364SerfsTer25) c.931del (p.Leu311SerfsTer25) | |
| 1 | g.173909558G>A | CA343773470 | SERPINC1 | c.1147C>T (p.Leu383Phe) c.560-2065C>T (n.560-2065C>T) c.1003C>T (p.Leu335Phe) c.1270C>T (p.Leu424Phe) c.1228C>T (p.Leu410Phe) c.1126C>T (p.Leu376Phe) c.1090C>T (p.Leu364Phe) c.931C>T (p.Leu311Phe) | |
| 1 | g.173909558G>C | CA343773468 | SERPINC1 | c.1147C>G (p.Leu383Val) c.560-2065C>G (n.560-2065C>G) c.1003C>G (p.Leu335Val) c.1270C>G (p.Leu424Val) c.1228C>G (p.Leu410Val) c.1126C>G (p.Leu376Val) c.1090C>G (p.Leu364Val) c.931C>G (p.Leu311Val) | |
| 1 | g.173909558G>T | CA343773469 | SERPINC1 | c.1147C>A (p.Leu383Ile) c.560-2065C>A (n.560-2065C>A) c.1003C>A (p.Leu335Ile) c.1270C>A (p.Leu424Ile) c.1228C>A (p.Leu410Ile) c.1126C>A (p.Leu376Ile) c.1090C>A (p.Leu364Ile) c.931C>A (p.Leu311Ile) | |
| 1 | g.173909559T>A | CA343773471 | SERPINC1 | c.1146A>T (p.Lys382Asn) c.560-2066A>T (n.560-2066A>T) c.1002A>T (p.Lys334Asn) c.1269A>T (p.Lys423Asn) c.1227A>T (p.Lys409Asn) c.1125A>T (p.Lys375Asn) c.1089A>T (p.Lys363Asn) c.930A>T (p.Lys310Asn) | |
| 1 | g.173909559T>C | CA421942779 | SERPINC1 | c.1146A>G (p.Lys382=) c.560-2066A>G (n.560-2066A>G) c.1002A>G (p.Lys334=) c.1269A>G (p.Lys423=) c.1227A>G (p.Lys409=) c.1125A>G (p.Lys375=) c.1089A>G (p.Lys363=) c.930A>G (p.Lys310=) | |
| 1 | g.173909559T>G | CA343773472 | SERPINC1 | c.1146A>C (p.Lys382Asn) c.560-2066A>C (n.560-2066A>C) c.1002A>C (p.Lys334Asn) c.1269A>C (p.Lys423Asn) c.1227A>C (p.Lys409Asn) c.1125A>C (p.Lys375Asn) c.1089A>C (p.Lys363Asn) c.930A>C (p.Lys310Asn) | |
| 1 | g.173909560T>A | CA343773473 | SERPINC1 | c.1145A>T (p.Lys382Ile) c.560-2067A>T (n.560-2067A>T) c.1001A>T (p.Lys334Ile) c.1268A>T (p.Lys423Ile) c.1226A>T (p.Lys409Ile) c.1124A>T (p.Lys375Ile) c.1088A>T (p.Lys363Ile) c.929A>T (p.Lys310Ile) | |
| 1 | g.173909560T>C | CA343773474 | SERPINC1 | c.1145A>G (p.Lys382Arg) c.560-2067A>G (n.560-2067A>G) c.1001A>G (p.Lys334Arg) c.1268A>G (p.Lys423Arg) c.1226A>G (p.Lys409Arg) c.1124A>G (p.Lys375Arg) c.1088A>G (p.Lys363Arg) c.929A>G (p.Lys310Arg) | gnomAD v4 |
| 1 | g.173909560T>G | CA343773475 | SERPINC1 | c.1145A>C (p.Lys382Thr) c.560-2067A>C (n.560-2067A>C) c.1001A>C (p.Lys334Thr) c.1268A>C (p.Lys423Thr) c.1226A>C (p.Lys409Thr) c.1124A>C (p.Lys375Thr) c.1088A>C (p.Lys363Thr) c.929A>C (p.Lys310Thr) | |
| 1 | g.173909561T>A | CA343773476 | SERPINC1 | c.1144A>T (p.Lys382Ter) c.560-2068A>T (n.560-2068A>T) c.1000A>T (p.Lys334Ter) c.1267A>T (p.Lys423Ter) c.1225A>T (p.Lys409Ter) c.1123A>T (p.Lys375Ter) c.1087A>T (p.Lys363Ter) c.928A>T (p.Lys310Ter) | |
| 1 | g.173909561T>C | CA343773477 | SERPINC1 | c.1144A>G (p.Lys382Glu) c.560-2068A>G (n.560-2068A>G) c.1000A>G (p.Lys334Glu) c.1267A>G (p.Lys423Glu) c.1225A>G (p.Lys409Glu) c.1123A>G (p.Lys375Glu) c.1087A>G (p.Lys363Glu) c.928A>G (p.Lys310Glu) | gnomAD v4 |
| 1 | g.173909561T>G | CA1251276 | SERPINC1 | c.1144A>C (p.Lys382Gln) c.560-2068A>C (n.560-2068A>C) c.1000A>C (p.Lys334Gln) c.1267A>C (p.Lys423Gln) c.1225A>C (p.Lys409Gln) c.1123A>C (p.Lys375Gln) c.1087A>C (p.Lys363Gln) c.928A>C (p.Lys310Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173909561T= | CA1207936895 | SERPINC1 | c.1144A= (p.Lys382=) c.560-2068A= (n.560-2068A=) c.1000A= (p.Lys334=) c.1267A= (p.Lys423=) c.1225A= (p.Lys409=) c.1123A= (p.Lys375=) c.1087A= (p.Lys363=) c.928A= (p.Lys310=) | |
| 1 | g.173909562G>A | CA421942780 | SERPINC1 | c.1143C>T (p.Ser381=) c.560-2069C>T (n.560-2069C>T) c.999C>T (p.Ser333=) c.1266C>T (p.Ser422=) c.1224C>T (p.Ser408=) c.1122C>T (p.Ser374=) c.1086C>T (p.Ser362=) c.927C>T (p.Ser309=) | |
| 1 | g.173909562G>C | CA421942781 | SERPINC1 | c.1143C>G (p.Ser381=) c.560-2069C>G (n.560-2069C>G) c.999C>G (p.Ser333=) c.1266C>G (p.Ser422=) c.1224C>G (p.Ser408=) c.1122C>G (p.Ser374=) c.1086C>G (p.Ser362=) c.927C>G (p.Ser309=) | |
| 1 | g.173909562G>T | CA421942782 | SERPINC1 | c.1143C>A (p.Ser381=) c.560-2069C>A (n.560-2069C>A) c.999C>A (p.Ser333=) c.1266C>A (p.Ser422=) c.1224C>A (p.Ser408=) c.1122C>A (p.Ser374=) c.1086C>A (p.Ser362=) c.927C>A (p.Ser309=) | |
| 1 | g.173909563G>A | CA343773478 | SERPINC1 | c.1142C>T (p.Ser381Phe) c.560-2070C>T (n.560-2070C>T) c.998C>T (p.Ser333Phe) c.1265C>T (p.Ser422Phe) c.1223C>T (p.Ser408Phe) c.1121C>T (p.Ser374Phe) c.1085C>T (p.Ser362Phe) c.926C>T (p.Ser309Phe) | |
| 1 | g.173909563G>C | CA343773479 | SERPINC1 | c.1142C>G (p.Ser381Cys) c.560-2070C>G (n.560-2070C>G) c.998C>G (p.Ser333Cys) c.1265C>G (p.Ser422Cys) c.1223C>G (p.Ser408Cys) c.1121C>G (p.Ser374Cys) c.1085C>G (p.Ser362Cys) c.926C>G (p.Ser309Cys) | dbSNP COSMIC |
| 1 | g.173909563G= | CA1207936896 | SERPINC1 | c.1142C= (p.Ser381=) c.560-2070C= (n.560-2070C=) c.998C= (p.Ser333=) c.1265C= (p.Ser422=) c.1223C= (p.Ser408=) c.1121C= (p.Ser374=) c.1085C= (p.Ser362=) c.926C= (p.Ser309=) | |
| 1 | g.173909563G>T | CA343773480 | SERPINC1 | c.1142C>A (p.Ser381Tyr) c.560-2070C>A (n.560-2070C>A) c.998C>A (p.Ser333Tyr) c.1265C>A (p.Ser422Tyr) c.1223C>A (p.Ser408Tyr) c.1121C>A (p.Ser374Tyr) c.1085C>A (p.Ser362Tyr) c.926C>A (p.Ser309Tyr) | gnomAD v4 |
| 1 | g.173909564A= | CA1141581216 | SERPINC1 | c.1141T= (p.Ser381=) c.560-2071T= (n.560-2071T=) c.997T= (p.Ser333=) c.1264T= (p.Ser422=) c.1222T= (p.Ser408=) c.1120T= (p.Ser374=) c.1084T= (p.Ser362=) c.925T= (p.Ser309=) | |
| 1 | g.173909564A>C | CA343773481 | SERPINC1 | c.1141T>G (p.Ser381Ala) c.560-2071T>G (n.560-2071T>G) c.997T>G (p.Ser333Ala) c.1264T>G (p.Ser422Ala) c.1222T>G (p.Ser408Ala) c.1120T>G (p.Ser374Ala) c.1084T>G (p.Ser362Ala) c.925T>G (p.Ser309Ala) | |
| 1 | g.173909564A>G | CA210783 | SERPINC1 | c.1141T>C (p.Ser381Pro) c.560-2071T>C (n.560-2071T>C) c.997T>C (p.Ser333Pro) c.1264T>C (p.Ser422Pro) c.1222T>C (p.Ser408Pro) c.1120T>C (p.Ser374Pro) c.1084T>C (p.Ser362Pro) c.925T>C (p.Ser309Pro) | ClinVar dbSNP |
| 1 | g.173909564A>T | CA343773482 | SERPINC1 | c.1141T>A (p.Ser381Thr) c.560-2071T>A (n.560-2071T>A) c.997T>A (p.Ser333Thr) c.1264T>A (p.Ser422Thr) c.1222T>A (p.Ser408Thr) c.1120T>A (p.Ser374Thr) c.1084T>A (p.Ser362Thr) c.925T>A (p.Ser309Thr) | |
| 1 | g.173909565C>A | CA343773483 | SERPINC1 | c.1140G>T (p.Lys380Asn) c.560-2072G>T (n.560-2072G>T) c.996G>T (p.Lys332Asn) c.1263G>T (p.Lys421Asn) c.1221G>T (p.Lys407Asn) c.1119G>T (p.Lys373Asn) c.1083G>T (p.Lys361Asn) c.924G>T (p.Lys308Asn) | |
| 1 | g.173909565C= | CA1207936897 | SERPINC1 | c.1140G= (p.Lys380=) c.560-2072G= (n.560-2072G=) c.996G= (p.Lys332=) c.1263G= (p.Lys421=) c.1221G= (p.Lys407=) c.1119G= (p.Lys373=) c.1083G= (p.Lys361=) c.924G= (p.Lys308=) | |
| 1 | g.173909565C>G | CA343773484 | SERPINC1 | c.1140G>C (p.Lys380Asn) c.560-2072G>C (n.560-2072G>C) c.996G>C (p.Lys332Asn) c.1263G>C (p.Lys421Asn) c.1221G>C (p.Lys407Asn) c.1119G>C (p.Lys373Asn) c.1083G>C (p.Lys361Asn) c.924G>C (p.Lys308Asn) | |
| 1 | g.173909565C>T | CA421942784 | SERPINC1 | c.1140G>A (p.Lys380=) c.560-2072G>A (n.560-2072G>A) c.996G>A (p.Lys332=) c.1263G>A (p.Lys421=) c.1221G>A (p.Lys407=) c.1119G>A (p.Lys373=) c.1083G>A (p.Lys361=) c.924G>A (p.Lys308=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173909566T>A | CA343773485 | SERPINC1 | c.1139A>T (p.Lys380Met) c.560-2073A>T (n.560-2073A>T) c.995A>T (p.Lys332Met) c.1262A>T (p.Lys421Met) c.1220A>T (p.Lys407Met) c.1118A>T (p.Lys373Met) c.1082A>T (p.Lys361Met) c.923A>T (p.Lys308Met) | |
| 1 | g.173909566T>C | CA343773486 | SERPINC1 | c.1139A>G (p.Lys380Arg) c.560-2073A>G (n.560-2073A>G) c.995A>G (p.Lys332Arg) c.1262A>G (p.Lys421Arg) c.1220A>G (p.Lys407Arg) c.1118A>G (p.Lys373Arg) c.1082A>G (p.Lys361Arg) c.923A>G (p.Lys308Arg) | |
| 1 | g.173909566T>G | CA343773487 | SERPINC1 | c.1139A>C (p.Lys380Thr) c.560-2073A>C (n.560-2073A>C) c.995A>C (p.Lys332Thr) c.1262A>C (p.Lys421Thr) c.1220A>C (p.Lys407Thr) c.1118A>C (p.Lys373Thr) c.1082A>C (p.Lys361Thr) c.923A>C (p.Lys308Thr) | |
| 1 | g.173909567T>A | CA343773488 | SERPINC1 | c.1138A>T (p.Lys380Ter) c.560-2074A>T (n.560-2074A>T) c.994A>T (p.Lys332Ter) c.1261A>T (p.Lys421Ter) c.1219A>T (p.Lys407Ter) c.1117A>T (p.Lys373Ter) c.1081A>T (p.Lys361Ter) c.922A>T (p.Lys308Ter) | |
| 1 | g.173909567T>C | CA343773489 | SERPINC1 | c.1138A>G (p.Lys380Glu) c.560-2074A>G (n.560-2074A>G) c.994A>G (p.Lys332Glu) c.1261A>G (p.Lys421Glu) c.1219A>G (p.Lys407Glu) c.1117A>G (p.Lys373Glu) c.1081A>G (p.Lys361Glu) c.922A>G (p.Lys308Glu) |