Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
1 | g.173903982G>C | CA343772449 | SERPINC1 | c.1302C>G (p.Phe434Leu) c.687C>G (p.Phe229Leu) c.1158C>G (p.Phe386Leu) c.1425C>G (p.Phe475Leu) c.1383C>G (p.Phe461Leu) c.1281C>G (p.Phe427Leu) c.1245C>G (p.Phe415Leu) c.1086C>G (p.Phe362Leu) | COSMIC |
1 | g.173903982G>T | CA343772447 | SERPINC1 | c.1302C>A (p.Phe434Leu) c.687C>A (p.Phe229Leu) c.1158C>A (p.Phe386Leu) c.1425C>A (p.Phe475Leu) c.1383C>A (p.Phe461Leu) c.1281C>A (p.Phe427Leu) c.1245C>A (p.Phe415Leu) c.1086C>A (p.Phe362Leu) | ClinVar gnomAD v4 |
1 | g.173903983A= | CA1207934378 | SERPINC1 | c.1301T= (p.Phe434=) c.686T= (p.Phe229=) c.1157T= (p.Phe386=) c.1424T= (p.Phe475=) c.1382T= (p.Phe461=) c.1280T= (p.Phe427=) c.1244T= (p.Phe415=) c.1085T= (p.Phe362=) | |
1 | g.173903983A>C | CA343772451 | SERPINC1 | c.1301T>G (p.Phe434Cys) c.686T>G (p.Phe229Cys) c.1157T>G (p.Phe386Cys) c.1424T>G (p.Phe475Cys) c.1382T>G (p.Phe461Cys) c.1280T>G (p.Phe427Cys) c.1244T>G (p.Phe415Cys) c.1085T>G (p.Phe362Cys) | ClinVar dbSNP |
1 | g.173903983A>G | CA343772453 | SERPINC1 | c.1301T>C (p.Phe434Ser) c.686T>C (p.Phe229Ser) c.1157T>C (p.Phe386Ser) c.1424T>C (p.Phe475Ser) c.1382T>C (p.Phe461Ser) c.1280T>C (p.Phe427Ser) c.1244T>C (p.Phe415Ser) c.1085T>C (p.Phe362Ser) | |
1 | g.173903983A>T | CA343772455 | SERPINC1 | c.1301T>A (p.Phe434Tyr) c.686T>A (p.Phe229Tyr) c.1157T>A (p.Phe386Tyr) c.1424T>A (p.Phe475Tyr) c.1382T>A (p.Phe461Tyr) c.1280T>A (p.Phe427Tyr) c.1244T>A (p.Phe415Tyr) c.1085T>A (p.Phe362Tyr) | |
1 | g.173903984A= | CA1207934379 | SERPINC1 | c.1300T= (p.Phe434=) c.685T= (p.Phe229=) c.1156T= (p.Phe386=) c.1423T= (p.Phe475=) c.1381T= (p.Phe461=) c.1279T= (p.Phe427=) c.1243T= (p.Phe415=) c.1084T= (p.Phe362=) | |
1 | g.173903984A>C | CA343772459 | SERPINC1 | c.1300T>G (p.Phe434Val) c.685T>G (p.Phe229Val) c.1156T>G (p.Phe386Val) c.1423T>G (p.Phe475Val) c.1381T>G (p.Phe461Val) c.1279T>G (p.Phe427Val) c.1243T>G (p.Phe415Val) c.1084T>G (p.Phe362Val) | dbSNP gnomAD v2 |
1 | g.173903984A>G | CA343772461 | SERPINC1 | c.1300T>C (p.Phe434Leu) c.685T>C (p.Phe229Leu) c.1156T>C (p.Phe386Leu) c.1423T>C (p.Phe475Leu) c.1381T>C (p.Phe461Leu) c.1279T>C (p.Phe427Leu) c.1243T>C (p.Phe415Leu) c.1084T>C (p.Phe362Leu) | |
1 | g.173903984A>T | CA343772463 | SERPINC1 | c.1300T>A (p.Phe434Ile) c.685T>A (p.Phe229Ile) c.1156T>A (p.Phe386Ile) c.1423T>A (p.Phe475Ile) c.1381T>A (p.Phe461Ile) c.1279T>A (p.Phe427Ile) c.1243T>A (p.Phe415Ile) c.1084T>A (p.Phe362Ile) | |
1 | g.173903985A>C | CA421821510 | SERPINC1 | c.1299T>G (p.Thr433=) c.684T>G (p.Thr228=) c.1155T>G (p.Thr385=) c.1422T>G (p.Thr474=) c.1380T>G (p.Thr460=) c.1278T>G (p.Thr426=) c.1242T>G (p.Thr414=) c.1083T>G (p.Thr361=) | |
1 | g.173903985A>G | CA421821511 | SERPINC1 | c.1299T>C (p.Thr433=) c.684T>C (p.Thr228=) c.1155T>C (p.Thr385=) c.1422T>C (p.Thr474=) c.1380T>C (p.Thr460=) c.1278T>C (p.Thr426=) c.1242T>C (p.Thr414=) c.1083T>C (p.Thr361=) | |
1 | g.173903985A>T | CA421821512 | SERPINC1 | c.1299T>A (p.Thr433=) c.684T>A (p.Thr228=) c.1155T>A (p.Thr385=) c.1422T>A (p.Thr474=) c.1380T>A (p.Thr460=) c.1278T>A (p.Thr426=) c.1242T>A (p.Thr414=) c.1083T>A (p.Thr361=) | |
1 | g.173903986G>A | CA343772467 | SERPINC1 | c.1298C>T (p.Thr433Ile) c.683C>T (p.Thr228Ile) c.1154C>T (p.Thr385Ile) c.1421C>T (p.Thr474Ile) c.1379C>T (p.Thr460Ile) c.1277C>T (p.Thr426Ile) c.1241C>T (p.Thr414Ile) c.1082C>T (p.Thr361Ile) | |
1 | g.173903986G>C | CA343772472 | SERPINC1 | c.1298C>G (p.Thr433Ser) c.683C>G (p.Thr228Ser) c.1154C>G (p.Thr385Ser) c.1421C>G (p.Thr474Ser) c.1379C>G (p.Thr460Ser) c.1277C>G (p.Thr426Ser) c.1241C>G (p.Thr414Ser) c.1082C>G (p.Thr361Ser) | COSMIC |
1 | g.173903986G>T | CA343772470 | SERPINC1 | c.1298C>A (p.Thr433Asn) c.683C>A (p.Thr228Asn) c.1154C>A (p.Thr385Asn) c.1421C>A (p.Thr474Asn) c.1379C>A (p.Thr460Asn) c.1277C>A (p.Thr426Asn) c.1241C>A (p.Thr414Asn) c.1082C>A (p.Thr361Asn) | gnomAD v4 |
1 | g.173903987T>A | CA343772473 | SERPINC1 | c.1297A>T (p.Thr433Ser) c.682A>T (p.Thr228Ser) c.1153A>T (p.Thr385Ser) c.1420A>T (p.Thr474Ser) c.1378A>T (p.Thr460Ser) c.1276A>T (p.Thr426Ser) c.1240A>T (p.Thr414Ser) c.1081A>T (p.Thr361Ser) | |
1 | g.173903987T>C | CA343772475 | SERPINC1 | c.1297A>G (p.Thr433Ala) c.682A>G (p.Thr228Ala) c.1153A>G (p.Thr385Ala) c.1420A>G (p.Thr474Ala) c.1378A>G (p.Thr460Ala) c.1276A>G (p.Thr426Ala) c.1240A>G (p.Thr414Ala) c.1081A>G (p.Thr361Ala) | |
1 | g.173903987T>G | CA343772477 | SERPINC1 | c.1297A>C (p.Thr433Pro) c.682A>C (p.Thr228Pro) c.1153A>C (p.Thr385Pro) c.1420A>C (p.Thr474Pro) c.1378A>C (p.Thr460Pro) c.1276A>C (p.Thr426Pro) c.1240A>C (p.Thr414Pro) c.1081A>C (p.Thr361Pro) | |
1 | g.173903988C>A | CA421821514 | SERPINC1 | c.1296G>T (p.Val432=) c.681G>T (p.Val227=) c.1152G>T (p.Val384=) c.1419G>T (p.Val473=) c.1377G>T (p.Val459=) c.1275G>T (p.Val425=) c.1239G>T (p.Val413=) c.1080G>T (p.Val360=) | gnomAD v4 |
1 | g.173903988C= | CA1207934380 | SERPINC1 | c.1296G= (p.Val432=) c.681G= (p.Val227=) c.1152G= (p.Val384=) c.1419G= (p.Val473=) c.1377G= (p.Val459=) c.1275G= (p.Val425=) c.1239G= (p.Val413=) c.1080G= (p.Val360=) | |
1 | g.173903988C>G | CA421821516 | SERPINC1 | c.1296G>C (p.Val432=) c.681G>C (p.Val227=) c.1152G>C (p.Val384=) c.1419G>C (p.Val473=) c.1377G>C (p.Val459=) c.1275G>C (p.Val425=) c.1239G>C (p.Val413=) c.1080G>C (p.Val360=) | |
1 | g.173903988C>T | CA421821515 | SERPINC1 | c.1296G>A (p.Val432=) c.681G>A (p.Val227=) c.1152G>A (p.Val384=) c.1419G>A (p.Val473=) c.1377G>A (p.Val459=) c.1275G>A (p.Val425=) c.1239G>A (p.Val413=) c.1080G>A (p.Val360=) | dbSNP gnomAD v2 gnomAD v4 |