| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.173903939_173903969dup | CA2579754002 | SERPINC1 | c.1315_1345dup (p.Leu449ProfsTer26) c.700_730dup (p.Leu244ProfsTer26) c.1171_1201dup (p.Leu401ProfsTer26) c.1438_1468dup (p.Leu490ProfsTer26) c.1396_1426dup (p.Leu476ProfsTer26) c.1294_1324dup (p.Leu442ProfsTer26) c.1258_1288dup (p.Leu430ProfsTer26) c.1099_1129dup (p.Leu377ProfsTer26) | |
| 1 | g.173903968G>A | CA210764 | SERPINC1 | c.1316C>T (p.Pro439Leu) c.701C>T (p.Pro234Leu) c.1172C>T (p.Pro391Leu) c.1439C>T (p.Pro480Leu) c.1397C>T (p.Pro466Leu) c.1295C>T (p.Pro432Leu) c.1259C>T (p.Pro420Leu) c.1100C>T (p.Pro367Leu) | ClinVar dbSNP |
| 1 | g.173903968G>C | CA343772362 | SERPINC1 | c.1316C>G (p.Pro439Arg) c.701C>G (p.Pro234Arg) c.1172C>G (p.Pro391Arg) c.1439C>G (p.Pro480Arg) c.1397C>G (p.Pro466Arg) c.1295C>G (p.Pro432Arg) c.1259C>G (p.Pro420Arg) c.1100C>G (p.Pro367Arg) | |
| 1 | g.173903968G= | CA1141581224 | SERPINC1 | c.1316C= (p.Pro439=) c.701C= (p.Pro234=) c.1172C= (p.Pro391=) c.1439C= (p.Pro480=) c.1397C= (p.Pro466=) c.1295C= (p.Pro432=) c.1259C= (p.Pro420=) c.1100C= (p.Pro367=) | |
| 1 | g.173903968G>T | CA343772360 | SERPINC1 | c.1316C>A (p.Pro439His) c.701C>A (p.Pro234His) c.1172C>A (p.Pro391His) c.1439C>A (p.Pro480His) c.1397C>A (p.Pro466His) c.1295C>A (p.Pro432His) c.1259C>A (p.Pro420His) c.1100C>A (p.Pro367His) | |
| 1 | g.173903969G>A | CA343772365 | SERPINC1 | c.1315C>T (p.Pro439Ser) c.700C>T (p.Pro234Ser) c.1171C>T (p.Pro391Ser) c.1438C>T (p.Pro480Ser) c.1396C>T (p.Pro466Ser) c.1294C>T (p.Pro432Ser) c.1258C>T (p.Pro420Ser) c.1099C>T (p.Pro367Ser) | ClinVar dbSNP COSMIC |
| 1 | g.173903969G>C | CA343772367 | SERPINC1 | c.1315C>G (p.Pro439Ala) c.700C>G (p.Pro234Ala) c.1171C>G (p.Pro391Ala) c.1438C>G (p.Pro480Ala) c.1396C>G (p.Pro466Ala) c.1294C>G (p.Pro432Ala) c.1258C>G (p.Pro420Ala) c.1099C>G (p.Pro367Ala) | ClinVar dbSNP |
| 1 | g.173903969G= | CA1207934376 | SERPINC1 | c.1315C= (p.Pro439=) c.700C= (p.Pro234=) c.1171C= (p.Pro391=) c.1438C= (p.Pro480=) c.1396C= (p.Pro466=) c.1294C= (p.Pro432=) c.1258C= (p.Pro420=) c.1099C= (p.Pro367=) | |
| 1 | g.173903969G>T | CA343772370 | SERPINC1 | c.1315C>A (p.Pro439Thr) c.700C>A (p.Pro234Thr) c.1171C>A (p.Pro391Thr) c.1438C>A (p.Pro480Thr) c.1396C>A (p.Pro466Thr) c.1294C>A (p.Pro432Thr) c.1258C>A (p.Pro420Thr) c.1099C>A (p.Pro367Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.173903970C>A | CA343772374 | SERPINC1 | c.1314G>T (p.Arg438Ser) c.699G>T (p.Arg233Ser) c.1170G>T (p.Arg390Ser) c.1437G>T (p.Arg479Ser) c.1395G>T (p.Arg465Ser) c.1293G>T (p.Arg431Ser) c.1257G>T (p.Arg419Ser) c.1098G>T (p.Arg366Ser) | |
| 1 | g.173903970C>G | CA343772376 | SERPINC1 | c.1314G>C (p.Arg438Ser) c.699G>C (p.Arg233Ser) c.1170G>C (p.Arg390Ser) c.1437G>C (p.Arg479Ser) c.1395G>C (p.Arg465Ser) c.1293G>C (p.Arg431Ser) c.1257G>C (p.Arg419Ser) c.1098G>C (p.Arg366Ser) | |
| 1 | g.173903970C>T | CA421821498 | SERPINC1 | c.1314G>A (p.Arg438=) c.699G>A (p.Arg233=) c.1170G>A (p.Arg390=) c.1437G>A (p.Arg479=) c.1395G>A (p.Arg465=) c.1293G>A (p.Arg431=) c.1257G>A (p.Arg419=) c.1098G>A (p.Arg366=) | |
| 1 | g.173903971C>A | CA343772379 | SERPINC1 | c.1313G>T (p.Arg438Met) c.698G>T (p.Arg233Met) c.1169G>T (p.Arg390Met) c.1436G>T (p.Arg479Met) c.1394G>T (p.Arg465Met) c.1292G>T (p.Arg431Met) c.1256G>T (p.Arg419Met) c.1097G>T (p.Arg366Met) | |
| 1 | g.173903971C>G | CA343772381 | SERPINC1 | c.1313G>C (p.Arg438Thr) c.698G>C (p.Arg233Thr) c.1169G>C (p.Arg390Thr) c.1436G>C (p.Arg479Thr) c.1394G>C (p.Arg465Thr) c.1292G>C (p.Arg431Thr) c.1256G>C (p.Arg419Thr) c.1097G>C (p.Arg366Thr) | |
| 1 | g.173903971C>T | CA343772384 | SERPINC1 | c.1313G>A (p.Arg438Lys) c.698G>A (p.Arg233Lys) c.1169G>A (p.Arg390Lys) c.1436G>A (p.Arg479Lys) c.1394G>A (p.Arg465Lys) c.1292G>A (p.Arg431Lys) c.1256G>A (p.Arg419Lys) c.1097G>A (p.Arg366Lys) | |
| 1 | g.173903972del | CA2586967706 | SERPINC1 | c.1312del (p.Arg438GlyfsTer7) c.697del (p.Arg233GlyfsTer7) c.1168del (p.Arg390GlyfsTer7) c.1435del (p.Arg479GlyfsTer7) c.1393del (p.Arg465GlyfsTer7) c.1291del (p.Arg431GlyfsTer7) c.1255del (p.Arg419GlyfsTer7) c.1096del (p.Arg366GlyfsTer7) | |
| 1 | g.173903972T>A | CA343772387 | SERPINC1 | c.1312A>T (p.Arg438Trp) c.697A>T (p.Arg233Trp) c.1168A>T (p.Arg390Trp) c.1435A>T (p.Arg479Trp) c.1393A>T (p.Arg465Trp) c.1291A>T (p.Arg431Trp) c.1255A>T (p.Arg419Trp) c.1096A>T (p.Arg366Trp) | |
| 1 | g.173903972T>C | CA343772388 | SERPINC1 | c.1312A>G (p.Arg438Gly) c.697A>G (p.Arg233Gly) c.1168A>G (p.Arg390Gly) c.1435A>G (p.Arg479Gly) c.1393A>G (p.Arg465Gly) c.1291A>G (p.Arg431Gly) c.1255A>G (p.Arg419Gly) c.1096A>G (p.Arg366Gly) | |
| 1 | g.173903972T>G | CA421821499 | SERPINC1 | c.1312A>C (p.Arg438=) c.697A>C (p.Arg233=) c.1168A>C (p.Arg390=) c.1435A>C (p.Arg479=) c.1393A>C (p.Arg465=) c.1291A>C (p.Arg431=) c.1255A>C (p.Arg419=) c.1096A>C (p.Arg366=) | |
| 1 | g.173903973G>A | CA421821500 | SERPINC1 | c.1311C>T (p.Asn437=) c.696C>T (p.Asn232=) c.1167C>T (p.Asn389=) c.1434C>T (p.Asn478=) c.1392C>T (p.Asn464=) c.1290C>T (p.Asn430=) c.1254C>T (p.Asn418=) c.1095C>T (p.Asn365=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173903973G>C | CA343772391 | SERPINC1 | c.1311C>G (p.Asn437Lys) c.696C>G (p.Asn232Lys) c.1167C>G (p.Asn389Lys) c.1434C>G (p.Asn478Lys) c.1392C>G (p.Asn464Lys) c.1290C>G (p.Asn430Lys) c.1254C>G (p.Asn418Lys) c.1095C>G (p.Asn365Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173903973G= | CA1207934377 | SERPINC1 | c.1311C= (p.Asn437=) c.696C= (p.Asn232=) c.1167C= (p.Asn389=) c.1434C= (p.Asn478=) c.1392C= (p.Asn464=) c.1290C= (p.Asn430=) c.1254C= (p.Asn418=) c.1095C= (p.Asn365=) | |
| 1 | g.173903973G>T | CA343772393 | SERPINC1 | c.1311C>A (p.Asn437Lys) c.696C>A (p.Asn232Lys) c.1167C>A (p.Asn389Lys) c.1434C>A (p.Asn478Lys) c.1392C>A (p.Asn464Lys) c.1290C>A (p.Asn430Lys) c.1254C>A (p.Asn418Lys) c.1095C>A (p.Asn365Lys) | gnomAD v4 |
| 1 | g.173903974T>A | CA343772396 | SERPINC1 | c.1310A>T (p.Asn437Ile) c.695A>T (p.Asn232Ile) c.1166A>T (p.Asn389Ile) c.1433A>T (p.Asn478Ile) c.1391A>T (p.Asn464Ile) c.1289A>T (p.Asn430Ile) c.1253A>T (p.Asn418Ile) c.1094A>T (p.Asn365Ile) | |
| 1 | g.173903974T>C | CA343772400 | SERPINC1 | c.1310A>G (p.Asn437Ser) c.695A>G (p.Asn232Ser) c.1166A>G (p.Asn389Ser) c.1433A>G (p.Asn478Ser) c.1391A>G (p.Asn464Ser) c.1289A>G (p.Asn430Ser) c.1253A>G (p.Asn418Ser) c.1094A>G (p.Asn365Ser) | |
| 1 | g.173903974T>G | CA343772398 | SERPINC1 | c.1310A>C (p.Asn437Thr) c.695A>C (p.Asn232Thr) c.1166A>C (p.Asn389Thr) c.1433A>C (p.Asn478Thr) c.1391A>C (p.Asn464Thr) c.1289A>C (p.Asn430Thr) c.1253A>C (p.Asn418Thr) c.1094A>C (p.Asn365Thr) | |
| 1 | g.173903975T>A | CA343772404 | SERPINC1 | c.1309A>T (p.Asn437Tyr) c.694A>T (p.Asn232Tyr) c.1165A>T (p.Asn389Tyr) c.1432A>T (p.Asn478Tyr) c.1390A>T (p.Asn464Tyr) c.1288A>T (p.Asn430Tyr) c.1252A>T (p.Asn418Tyr) c.1093A>T (p.Asn365Tyr) | |
| 1 | g.173903975T>C | CA343772406 | SERPINC1 | c.1309A>G (p.Asn437Asp) c.694A>G (p.Asn232Asp) c.1165A>G (p.Asn389Asp) c.1432A>G (p.Asn478Asp) c.1390A>G (p.Asn464Asp) c.1288A>G (p.Asn430Asp) c.1252A>G (p.Asn418Asp) c.1093A>G (p.Asn365Asp) | |
| 1 | g.173903975T>G | CA343772408 | SERPINC1 | c.1309A>C (p.Asn437His) c.694A>C (p.Asn232His) c.1165A>C (p.Asn389His) c.1432A>C (p.Asn478His) c.1390A>C (p.Asn464His) c.1288A>C (p.Asn430His) c.1252A>C (p.Asn418His) c.1093A>C (p.Asn365His) | |
| 1 | g.173903975_173903976del | CA2649174130 | SERPINC1 | c.1308_1309del (p.Asn437GlnfsTer27) c.693_694del (p.Asn232GlnfsTer27) c.1164_1165del (p.Asn389GlnfsTer27) c.1431_1432del (p.Asn478GlnfsTer27) c.1389_1390del (p.Asn464GlnfsTer27) c.1287_1288del (p.Asn430GlnfsTer27) c.1251_1252del (p.Asn418GlnfsTer27) c.1092_1093del (p.Asn365GlnfsTer27) | gnomAD v4 |
| 1 | g.173903976G>A | CA421821503 | SERPINC1 | c.1308C>T (p.Ala436=) c.693C>T (p.Ala231=) c.1164C>T (p.Ala388=) c.1431C>T (p.Ala477=) c.1389C>T (p.Ala463=) c.1287C>T (p.Ala429=) c.1251C>T (p.Ala417=) c.1092C>T (p.Ala364=) | |
| 1 | g.173903976G>C | CA421821501 | SERPINC1 | c.1308C>G (p.Ala436=) c.693C>G (p.Ala231=) c.1164C>G (p.Ala388=) c.1431C>G (p.Ala477=) c.1389C>G (p.Ala463=) c.1287C>G (p.Ala429=) c.1251C>G (p.Ala417=) c.1092C>G (p.Ala364=) | |
| 1 | g.173903976G>T | CA421821502 | SERPINC1 | c.1308C>A (p.Ala436=) c.693C>A (p.Ala231=) c.1164C>A (p.Ala388=) c.1431C>A (p.Ala477=) c.1389C>A (p.Ala463=) c.1287C>A (p.Ala429=) c.1251C>A (p.Ala417=) c.1092C>A (p.Ala364=) | |
| 1 | g.173903977G>A | CA343772411 | SERPINC1 | c.1307C>T (p.Ala436Val) c.692C>T (p.Ala231Val) c.1163C>T (p.Ala388Val) c.1430C>T (p.Ala477Val) c.1388C>T (p.Ala463Val) c.1286C>T (p.Ala429Val) c.1250C>T (p.Ala417Val) c.1091C>T (p.Ala364Val) | |
| 1 | g.173903977G>C | CA343772412 | SERPINC1 | c.1307C>G (p.Ala436Gly) c.692C>G (p.Ala231Gly) c.1163C>G (p.Ala388Gly) c.1430C>G (p.Ala477Gly) c.1388C>G (p.Ala463Gly) c.1286C>G (p.Ala429Gly) c.1250C>G (p.Ala417Gly) c.1091C>G (p.Ala364Gly) | |
| 1 | g.173903977G>T | CA343772415 | SERPINC1 | c.1307C>A (p.Ala436Asp) c.692C>A (p.Ala231Asp) c.1163C>A (p.Ala388Asp) c.1430C>A (p.Ala477Asp) c.1388C>A (p.Ala463Asp) c.1286C>A (p.Ala429Asp) c.1250C>A (p.Ala417Asp) c.1091C>A (p.Ala364Asp) | |
| 1 | g.173903978C>A | CA343772418 | SERPINC1 | c.1306G>T (p.Ala436Ser) c.691G>T (p.Ala231Ser) c.1162G>T (p.Ala388Ser) c.1429G>T (p.Ala477Ser) c.1387G>T (p.Ala463Ser) c.1285G>T (p.Ala429Ser) c.1249G>T (p.Ala417Ser) c.1090G>T (p.Ala364Ser) | |
| 1 | g.173903978C= | CA1141581228 | SERPINC1 | c.1306G= (p.Ala436=) c.691G= (p.Ala231=) c.1162G= (p.Ala388=) c.1429G= (p.Ala477=) c.1387G= (p.Ala463=) c.1285G= (p.Ala429=) c.1249G= (p.Ala417=) c.1090G= (p.Ala364=) | |
| 1 | g.173903978C>G | CA343772421 | SERPINC1 | c.1306G>C (p.Ala436Pro) c.691G>C (p.Ala231Pro) c.1162G>C (p.Ala388Pro) c.1429G>C (p.Ala477Pro) c.1387G>C (p.Ala463Pro) c.1285G>C (p.Ala429Pro) c.1249G>C (p.Ala417Pro) c.1090G>C (p.Ala364Pro) | |
| 1 | g.173903978C>T | CA210746 | SERPINC1 | c.1306G>A (p.Ala436Thr) c.691G>A (p.Ala231Thr) c.1162G>A (p.Ala388Thr) c.1429G>A (p.Ala477Thr) c.1387G>A (p.Ala463Thr) c.1285G>A (p.Ala429Thr) c.1249G>A (p.Ala417Thr) c.1090G>A (p.Ala364Thr) | ClinVar dbSNP |
| 1 | g.173903979C>A | CA343772428 | SERPINC1 | c.1305G>T (p.Lys435Asn) c.690G>T (p.Lys230Asn) c.1161G>T (p.Lys387Asn) c.1428G>T (p.Lys476Asn) c.1386G>T (p.Lys462Asn) c.1284G>T (p.Lys428Asn) c.1248G>T (p.Lys416Asn) c.1089G>T (p.Lys363Asn) | |
| 1 | g.173903979C>G | CA343772426 | SERPINC1 | c.1305G>C (p.Lys435Asn) c.690G>C (p.Lys230Asn) c.1161G>C (p.Lys387Asn) c.1428G>C (p.Lys476Asn) c.1386G>C (p.Lys462Asn) c.1284G>C (p.Lys428Asn) c.1248G>C (p.Lys416Asn) c.1089G>C (p.Lys363Asn) | |
| 1 | g.173903979C>T | CA421821504 | SERPINC1 | c.1305G>A (p.Lys435=) c.690G>A (p.Lys230=) c.1161G>A (p.Lys387=) c.1428G>A (p.Lys476=) c.1386G>A (p.Lys462=) c.1284G>A (p.Lys428=) c.1248G>A (p.Lys416=) c.1089G>A (p.Lys363=) | gnomAD v4 |
| 1 | g.173903980T>A | CA343772431 | SERPINC1 | c.1304A>T (p.Lys435Met) c.689A>T (p.Lys230Met) c.1160A>T (p.Lys387Met) c.1427A>T (p.Lys476Met) c.1385A>T (p.Lys462Met) c.1283A>T (p.Lys428Met) c.1247A>T (p.Lys416Met) c.1088A>T (p.Lys363Met) | |
| 1 | g.173903980T>C | CA343772434 | SERPINC1 | c.1304A>G (p.Lys435Arg) c.689A>G (p.Lys230Arg) c.1160A>G (p.Lys387Arg) c.1427A>G (p.Lys476Arg) c.1385A>G (p.Lys462Arg) c.1283A>G (p.Lys428Arg) c.1247A>G (p.Lys416Arg) c.1088A>G (p.Lys363Arg) | |
| 1 | g.173903980T>G | CA343772437 | SERPINC1 | c.1304A>C (p.Lys435Thr) c.689A>C (p.Lys230Thr) c.1160A>C (p.Lys387Thr) c.1427A>C (p.Lys476Thr) c.1385A>C (p.Lys462Thr) c.1283A>C (p.Lys428Thr) c.1247A>C (p.Lys416Thr) c.1088A>C (p.Lys363Thr) | |
| 1 | g.173903981T>A | CA343772440 | SERPINC1 | c.1303A>T (p.Lys435Ter) c.688A>T (p.Lys230Ter) c.1159A>T (p.Lys387Ter) c.1426A>T (p.Lys476Ter) c.1384A>T (p.Lys462Ter) c.1282A>T (p.Lys428Ter) c.1246A>T (p.Lys416Ter) c.1087A>T (p.Lys363Ter) | |
| 1 | g.173903981T>C | CA343772442 | SERPINC1 | c.1303A>G (p.Lys435Glu) c.688A>G (p.Lys230Glu) c.1159A>G (p.Lys387Glu) c.1426A>G (p.Lys476Glu) c.1384A>G (p.Lys462Glu) c.1282A>G (p.Lys428Glu) c.1246A>G (p.Lys416Glu) c.1087A>G (p.Lys363Glu) | |
| 1 | g.173903981T>G | CA343772444 | SERPINC1 | c.1303A>C (p.Lys435Gln) c.688A>C (p.Lys230Gln) c.1159A>C (p.Lys387Gln) c.1426A>C (p.Lys476Gln) c.1384A>C (p.Lys462Gln) c.1282A>C (p.Lys428Gln) c.1246A>C (p.Lys416Gln) c.1087A>C (p.Lys363Gln) | |
| 1 | g.173903982G>A | CA421821506 | SERPINC1 | c.1302C>T (p.Phe434=) c.687C>T (p.Phe229=) c.1158C>T (p.Phe386=) c.1425C>T (p.Phe475=) c.1383C>T (p.Phe461=) c.1281C>T (p.Phe427=) c.1245C>T (p.Phe415=) c.1086C>T (p.Phe362=) |