Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.173903938A=CA1207934369SERPINC1c.1346T= (p.Leu449=)
c.731T= (p.Leu244=)
c.1202T= (p.Leu401=)
c.1469T= (p.Leu490=)
c.1427T= (p.Leu476=)
c.1325T= (p.Leu442=)
c.1289T= (p.Leu430=)
c.1130T= (p.Leu377=)
1g.173903938A>CCA343772197SERPINC1c.1346T>G (p.Leu449Arg)
c.731T>G (p.Leu244Arg)
c.1202T>G (p.Leu401Arg)
c.1469T>G (p.Leu490Arg)
c.1427T>G (p.Leu476Arg)
c.1325T>G (p.Leu442Arg)
c.1289T>G (p.Leu430Arg)
c.1130T>G (p.Leu377Arg)
1g.173903938A>GCA343772201SERPINC1c.1346T>C (p.Leu449Pro)
c.731T>C (p.Leu244Pro)
c.1202T>C (p.Leu401Pro)
c.1469T>C (p.Leu490Pro)
c.1427T>C (p.Leu476Pro)
c.1325T>C (p.Leu442Pro)
c.1289T>C (p.Leu430Pro)
c.1130T>C (p.Leu377Pro)
1g.173903938A>TCA343772199SERPINC1c.1346T>A (p.Leu449Gln)
c.731T>A (p.Leu244Gln)
c.1202T>A (p.Leu401Gln)
c.1469T>A (p.Leu490Gln)
c.1427T>A (p.Leu476Gln)
c.1325T>A (p.Leu442Gln)
c.1289T>A (p.Leu430Gln)
c.1130T>A (p.Leu377Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.173903939G>ACA421821317SERPINC1c.1345C>T (p.Leu449=)
c.730C>T (p.Leu244=)
c.1201C>T (p.Leu401=)
c.1468C>T (p.Leu490=)
c.1426C>T (p.Leu476=)
c.1324C>T (p.Leu442=)
c.1288C>T (p.Leu430=)
c.1129C>T (p.Leu377=)
1g.173903939G>CCA343772202SERPINC1c.1345C>G (p.Leu449Val)
c.730C>G (p.Leu244Val)
c.1201C>G (p.Leu401Val)
c.1468C>G (p.Leu490Val)
c.1426C>G (p.Leu476Val)
c.1324C>G (p.Leu442Val)
c.1288C>G (p.Leu430Val)
c.1129C>G (p.Leu377Val)
1g.173903939G>TCA343772204SERPINC1c.1345C>A (p.Leu449Met)
c.730C>A (p.Leu244Met)
c.1201C>A (p.Leu401Met)
c.1468C>A (p.Leu490Met)
c.1426C>A (p.Leu476Met)
c.1324C>A (p.Leu442Met)
c.1288C>A (p.Leu430Met)
c.1129C>A (p.Leu377Met)
1g.173903939_173903969dupCA2579754002SERPINC1c.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)
1g.173903940A>CCA421821322SERPINC1c.1344T>G (p.Pro448=)
c.729T>G (p.Pro243=)
c.1200T>G (p.Pro400=)
c.1467T>G (p.Pro489=)
c.1425T>G (p.Pro475=)
c.1323T>G (p.Pro441=)
c.1287T>G (p.Pro429=)
c.1128T>G (p.Pro376=)
1g.173903940A>GCA421821326SERPINC1c.1344T>C (p.Pro448=)
c.729T>C (p.Pro243=)
c.1200T>C (p.Pro400=)
c.1467T>C (p.Pro489=)
c.1425T>C (p.Pro475=)
c.1323T>C (p.Pro441=)
c.1287T>C (p.Pro429=)
c.1128T>C (p.Pro376=)
1g.173903940A>TCA421821324SERPINC1c.1344T>A (p.Pro448=)
c.729T>A (p.Pro243=)
c.1200T>A (p.Pro400=)
c.1467T>A (p.Pro489=)
c.1425T>A (p.Pro475=)
c.1323T>A (p.Pro441=)
c.1287T>A (p.Pro429=)
c.1128T>A (p.Pro376=)
1g.173903941G>ACA343772206SERPINC1c.1343C>T (p.Pro448Leu)
c.728C>T (p.Pro243Leu)
c.1199C>T (p.Pro400Leu)
c.1466C>T (p.Pro489Leu)
c.1424C>T (p.Pro475Leu)
c.1322C>T (p.Pro441Leu)
c.1286C>T (p.Pro429Leu)
c.1127C>T (p.Pro376Leu)
1g.173903941G>CCA343772208SERPINC1c.1343C>G (p.Pro448Arg)
c.728C>G (p.Pro243Arg)
c.1199C>G (p.Pro400Arg)
c.1466C>G (p.Pro489Arg)
c.1424C>G (p.Pro475Arg)
c.1322C>G (p.Pro441Arg)
c.1286C>G (p.Pro429Arg)
c.1127C>G (p.Pro376Arg)
1g.173903941G>TCA343772210SERPINC1c.1343C>A (p.Pro448His)
c.728C>A (p.Pro243His)
c.1199C>A (p.Pro400His)
c.1466C>A (p.Pro489His)
c.1424C>A (p.Pro475His)
c.1322C>A (p.Pro441His)
c.1286C>A (p.Pro429His)
c.1127C>A (p.Pro376His)
1g.173903942G>ACA1251217SERPINC1c.1342C>T (p.Pro448Ser)
c.727C>T (p.Pro243Ser)
c.1198C>T (p.Pro400Ser)
c.1465C>T (p.Pro489Ser)
c.1423C>T (p.Pro475Ser)
c.1321C>T (p.Pro441Ser)
c.1285C>T (p.Pro429Ser)
c.1126C>T (p.Pro376Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.173903942G>CCA343772213SERPINC1c.1342C>G (p.Pro448Ala)
c.727C>G (p.Pro243Ala)
c.1198C>G (p.Pro400Ala)
c.1465C>G (p.Pro489Ala)
c.1423C>G (p.Pro475Ala)
c.1321C>G (p.Pro441Ala)
c.1285C>G (p.Pro429Ala)
c.1126C>G (p.Pro376Ala)
1g.173903942G=CA1144099601SERPINC1c.1342C= (p.Pro448=)
c.727C= (p.Pro243=)
c.1198C= (p.Pro400=)
c.1465C= (p.Pro489=)
c.1423C= (p.Pro475=)
c.1321C= (p.Pro441=)
c.1285C= (p.Pro429=)
c.1126C= (p.Pro376=)
1g.173903942G>TCA343772214SERPINC1c.1342C>A (p.Pro448Thr)
c.727C>A (p.Pro243Thr)
c.1198C>A (p.Pro400Thr)
c.1465C>A (p.Pro489Thr)
c.1423C>A (p.Pro475Thr)
c.1321C>A (p.Pro441Thr)
c.1285C>A (p.Pro429Thr)
c.1126C>A (p.Pro376Thr)
1g.173903943A>CCA421821340SERPINC1c.1341T>G (p.Val447=)
c.726T>G (p.Val242=)
c.1197T>G (p.Val399=)
c.1464T>G (p.Val488=)
c.1422T>G (p.Val474=)
c.1320T>G (p.Val440=)
c.1284T>G (p.Val428=)
c.1125T>G (p.Val375=)
1g.173903943A>GCA421821338SERPINC1c.1341T>C (p.Val447=)
c.726T>C (p.Val242=)
c.1197T>C (p.Val399=)
c.1464T>C (p.Val488=)
c.1422T>C (p.Val474=)
c.1320T>C (p.Val440=)
c.1284T>C (p.Val428=)
c.1125T>C (p.Val375=)
1g.173903943A>TCA421821336SERPINC1c.1341T>A (p.Val447=)
c.726T>A (p.Val242=)
c.1197T>A (p.Val399=)
c.1464T>A (p.Val488=)
c.1422T>A (p.Val474=)
c.1320T>A (p.Val440=)
c.1284T>A (p.Val428=)
c.1125T>A (p.Val375=)
1g.173903943_173903944insTCA2586967702SERPINC1c.1340_1341insA (p.Pro448SerfsTer17)
c.725_726insA (p.Pro243SerfsTer17)
c.1196_1197insA (p.Pro400SerfsTer17)
c.1463_1464insA (p.Pro489SerfsTer17)
c.1421_1422insA (p.Pro475SerfsTer17)
c.1319_1320insA (p.Pro441SerfsTer17)
c.1283_1284insA (p.Pro429SerfsTer17)
c.1124_1125insA (p.Pro376SerfsTer17)
1g.173903944A=CA1143607687SERPINC1c.1340T= (p.Val447=)
c.725T= (p.Val242=)
c.1196T= (p.Val399=)
c.1463T= (p.Val488=)
c.1421T= (p.Val474=)
c.1319T= (p.Val440=)
c.1283T= (p.Val428=)
c.1124T= (p.Val375=)
1g.173903944A>CCA343772218SERPINC1c.1340T>G (p.Val447Gly)
c.725T>G (p.Val242Gly)
c.1196T>G (p.Val399Gly)
c.1463T>G (p.Val488Gly)
c.1421T>G (p.Val474Gly)
c.1319T>G (p.Val440Gly)
c.1283T>G (p.Val428Gly)
c.1124T>G (p.Val375Gly)
1g.173903944A>GCA343772220SERPINC1c.1340T>C (p.Val447Ala)
c.725T>C (p.Val242Ala)
c.1196T>C (p.Val399Ala)
c.1463T>C (p.Val488Ala)
c.1421T>C (p.Val474Ala)
c.1319T>C (p.Val440Ala)
c.1283T>C (p.Val428Ala)
c.1124T>C (p.Val375Ala)
1g.173903944A>TCA32777234SERPINC1c.1340T>A (p.Val447Asp)
c.725T>A (p.Val242Asp)
c.1196T>A (p.Val399Asp)
c.1463T>A (p.Val488Asp)
c.1421T>A (p.Val474Asp)
c.1319T>A (p.Val440Asp)
c.1283T>A (p.Val428Asp)
c.1124T>A (p.Val375Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.173903945C>ACA343772235SERPINC1c.1339G>T (p.Val447Phe)
c.724G>T (p.Val242Phe)
c.1195G>T (p.Val399Phe)
c.1462G>T (p.Val488Phe)
c.1420G>T (p.Val474Phe)
c.1318G>T (p.Val440Phe)
c.1282G>T (p.Val428Phe)
c.1123G>T (p.Val375Phe)
1g.173903945C>GCA343772232SERPINC1c.1339G>C (p.Val447Leu)
c.724G>C (p.Val242Leu)
c.1195G>C (p.Val399Leu)
c.1462G>C (p.Val488Leu)
c.1420G>C (p.Val474Leu)
c.1318G>C (p.Val440Leu)
c.1282G>C (p.Val428Leu)
c.1123G>C (p.Val375Leu)
1g.173903945C>TCA343772230SERPINC1c.1339G>A (p.Val447Ile)
c.724G>A (p.Val242Ile)
c.1195G>A (p.Val399Ile)
c.1462G>A (p.Val488Ile)
c.1420G>A (p.Val474Ile)
c.1318G>A (p.Val440Ile)
c.1282G>A (p.Val428Ile)
c.1123G>A (p.Val375Ile)
1g.173903947_173903949dupCA2697768480SERPINC1c.1337_1339dup (p.Glu446_Val447insGlu)
c.722_724dup (p.Glu241_Val242insGlu)
c.1193_1195dup (p.Glu398_Val399insGlu)
c.1460_1462dup (p.Glu487_Val488insGlu)
c.1418_1420dup (p.Glu473_Val474insGlu)
c.1316_1318dup (p.Glu439_Val440insGlu)
c.1280_1282dup (p.Glu427_Val428insGlu)
c.1121_1123dup (p.Glu374_Val375insGlu)
 dbSNP
1g.173903948_173903952delCA2582342989SERPINC1c.1335_1339del (p.Arg445SerfsTer18)
c.720_724del (p.Arg240SerfsTer18)
c.1191_1195del (p.Arg397SerfsTer18)
c.1458_1462del (p.Arg486SerfsTer18)
c.1416_1420del (p.Arg472SerfsTer18)
c.1314_1318del (p.Arg438SerfsTer18)
c.1278_1282del (p.Arg426SerfsTer18)
c.1119_1123del (p.Arg373SerfsTer18)
1g.173903946T>ACA343772237SERPINC1c.1338A>T (p.Glu446Asp)
c.723A>T (p.Glu241Asp)
c.1194A>T (p.Glu398Asp)
c.1461A>T (p.Glu487Asp)
c.1419A>T (p.Glu473Asp)
c.1317A>T (p.Glu439Asp)
c.1281A>T (p.Glu427Asp)
c.1122A>T (p.Glu374Asp)
1g.173903946T>CCA421821366SERPINC1c.1338A>G (p.Glu446=)
c.723A>G (p.Glu241=)
c.1194A>G (p.Glu398=)
c.1461A>G (p.Glu487=)
c.1419A>G (p.Glu473=)
c.1317A>G (p.Glu439=)
c.1281A>G (p.Glu427=)
c.1122A>G (p.Glu374=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.173903946T>GCA343772240SERPINC1c.1338A>C (p.Glu446Asp)
c.723A>C (p.Glu241Asp)
c.1194A>C (p.Glu398Asp)
c.1461A>C (p.Glu487Asp)
c.1419A>C (p.Glu473Asp)
c.1317A>C (p.Glu439Asp)
c.1281A>C (p.Glu427Asp)
c.1122A>C (p.Glu374Asp)
1g.173903946T=CA1207934370SERPINC1c.1338A= (p.Glu446=)
c.723A= (p.Glu241=)
c.1194A= (p.Glu398=)
c.1461A= (p.Glu487=)
c.1419A= (p.Glu473=)
c.1317A= (p.Glu439=)
c.1281A= (p.Glu427=)
c.1122A= (p.Glu374=)
1g.173903947T>ACA343772242SERPINC1c.1337A>T (p.Glu446Val)
c.722A>T (p.Glu241Val)
c.1193A>T (p.Glu398Val)
c.1460A>T (p.Glu487Val)
c.1418A>T (p.Glu473Val)
c.1316A>T (p.Glu439Val)
c.1280A>T (p.Glu427Val)
c.1121A>T (p.Glu374Val)
1g.173903947T>CCA343772244SERPINC1c.1337A>G (p.Glu446Gly)
c.722A>G (p.Glu241Gly)
c.1193A>G (p.Glu398Gly)
c.1460A>G (p.Glu487Gly)
c.1418A>G (p.Glu473Gly)
c.1316A>G (p.Glu439Gly)
c.1280A>G (p.Glu427Gly)
c.1121A>G (p.Glu374Gly)
1g.173903947T>GCA343772246SERPINC1c.1337A>C (p.Glu446Ala)
c.722A>C (p.Glu241Ala)
c.1193A>C (p.Glu398Ala)
c.1460A>C (p.Glu487Ala)
c.1418A>C (p.Glu473Ala)
c.1316A>C (p.Glu439Ala)
c.1280A>C (p.Glu427Ala)
c.1121A>C (p.Glu374Ala)
1g.173903948_173903954delCA2586967703SERPINC1c.1331_1337del (p.Ile444LysfsTer4)
c.716_722del (p.Ile239LysfsTer4)
c.1187_1193del (p.Ile396LysfsTer4)
c.1454_1460del (p.Ile485LysfsTer4)
c.1412_1418del (p.Ile471LysfsTer4)
c.1310_1316del (p.Ile437LysfsTer4)
c.1274_1280del (p.Ile425LysfsTer4)
c.1115_1121del (p.Ile372LysfsTer4)
1g.173903948C>ACA343772250SERPINC1c.1336G>T (p.Glu446Ter)
c.721G>T (p.Glu241Ter)
c.1192G>T (p.Glu398Ter)
c.1459G>T (p.Glu487Ter)
c.1417G>T (p.Glu473Ter)
c.1315G>T (p.Glu439Ter)
c.1279G>T (p.Glu427Ter)
c.1120G>T (p.Glu374Ter)
1g.173903948C>GCA343772252SERPINC1c.1336G>C (p.Glu446Gln)
c.721G>C (p.Glu241Gln)
c.1192G>C (p.Glu398Gln)
c.1459G>C (p.Glu487Gln)
c.1417G>C (p.Glu473Gln)
c.1315G>C (p.Glu439Gln)
c.1279G>C (p.Glu427Gln)
c.1120G>C (p.Glu374Gln)
1g.173903948C>TCA343772254SERPINC1c.1336G>A (p.Glu446Lys)
c.721G>A (p.Glu241Lys)
c.1192G>A (p.Glu398Lys)
c.1459G>A (p.Glu487Lys)
c.1417G>A (p.Glu473Lys)
c.1315G>A (p.Glu439Lys)
c.1279G>A (p.Glu427Lys)
c.1120G>A (p.Glu374Lys)
1g.173903949T>ACA343772257SERPINC1c.1335A>T (p.Arg445Ser)
c.720A>T (p.Arg240Ser)
c.1191A>T (p.Arg397Ser)
c.1458A>T (p.Arg486Ser)
c.1416A>T (p.Arg472Ser)
c.1314A>T (p.Arg438Ser)
c.1278A>T (p.Arg426Ser)
c.1119A>T (p.Arg373Ser)
1g.173903949T>CCA421821383SERPINC1c.1335A>G (p.Arg445=)
c.720A>G (p.Arg240=)
c.1191A>G (p.Arg397=)
c.1458A>G (p.Arg486=)
c.1416A>G (p.Arg472=)
c.1314A>G (p.Arg438=)
c.1278A>G (p.Arg426=)
c.1119A>G (p.Arg373=)
1g.173903949T>GCA343772258SERPINC1c.1335A>C (p.Arg445Ser)
c.720A>C (p.Arg240Ser)
c.1191A>C (p.Arg397Ser)
c.1458A>C (p.Arg486Ser)
c.1416A>C (p.Arg472Ser)
c.1314A>C (p.Arg438Ser)
c.1278A>C (p.Arg426Ser)
c.1119A>C (p.Arg373Ser)
1g.173903950C>ACA343772261SERPINC1c.1334G>T (p.Arg445Ile)
c.719G>T (p.Arg240Ile)
c.1190G>T (p.Arg397Ile)
c.1457G>T (p.Arg486Ile)
c.1415G>T (p.Arg472Ile)
c.1313G>T (p.Arg438Ile)
c.1277G>T (p.Arg426Ile)
c.1118G>T (p.Arg373Ile)
1g.173903950C>GCA343772263SERPINC1c.1334G>C (p.Arg445Thr)
c.719G>C (p.Arg240Thr)
c.1190G>C (p.Arg397Thr)
c.1457G>C (p.Arg486Thr)
c.1415G>C (p.Arg472Thr)
c.1313G>C (p.Arg438Thr)
c.1277G>C (p.Arg426Thr)
c.1118G>C (p.Arg373Thr)
1g.173903950C>TCA343772265SERPINC1c.1334G>A (p.Arg445Lys)
c.719G>A (p.Arg240Lys)
c.1190G>A (p.Arg397Lys)
c.1457G>A (p.Arg486Lys)
c.1415G>A (p.Arg472Lys)
c.1313G>A (p.Arg438Lys)
c.1277G>A (p.Arg426Lys)
c.1118G>A (p.Arg373Lys)
1g.173903951T>ACA343772268SERPINC1c.1333A>T (p.Arg445Ter)
c.718A>T (p.Arg240Ter)
c.1189A>T (p.Arg397Ter)
c.1456A>T (p.Arg486Ter)
c.1414A>T (p.Arg472Ter)
c.1312A>T (p.Arg438Ter)
c.1276A>T (p.Arg426Ter)
c.1117A>T (p.Arg373Ter)
1g.173903951T>CCA343772270SERPINC1c.1333A>G (p.Arg445Gly)
c.718A>G (p.Arg240Gly)
c.1189A>G (p.Arg397Gly)
c.1456A>G (p.Arg486Gly)
c.1414A>G (p.Arg472Gly)
c.1312A>G (p.Arg438Gly)
c.1276A>G (p.Arg426Gly)
c.1117A>G (p.Arg373Gly)

Number of alleles fetched