Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.173903900_173903911delCA2586967697SERPINC1c.1373_1384del (p.Val458_Cys462delinsGly)
c.758_769del (p.Val253_Cys257delinsGly)
c.1229_1240del (p.Val410_Cys414delinsGly)
c.1496_1507del (p.Val499_Cys503delinsGly)
c.1454_1465del (p.Val485_Cys489delinsGly)
c.1352_1363del (p.Val451_Cys455delinsGly)
c.1316_1327del (p.Val439_Cys443delinsGly)
c.1157_1168del (p.Val386_Cys390delinsGly)
1g.173903903_173903911delCA2499214317SERPINC1c.1373_1381del (p.Val458_Pro461delinsAla)
c.758_766del (p.Val253_Pro256delinsAla)
c.1229_1237del (p.Val410_Pro413delinsAla)
c.1496_1504del (p.Val499_Pro502delinsAla)
c.1454_1462del (p.Val485_Pro488delinsAla)
c.1352_1360del (p.Val451_Pro454delinsAla)
c.1316_1324del (p.Val439_Pro442delinsAla)
c.1157_1165del (p.Val386_Pro389delinsAla)
ClinVar dbSNP
1g.173903911A=CA1207934361SERPINC1c.1373T= (p.Val458=)
c.758T= (p.Val253=)
c.1229T= (p.Val410=)
c.1496T= (p.Val499=)
c.1454T= (p.Val485=)
c.1352T= (p.Val451=)
c.1316T= (p.Val439=)
c.1157T= (p.Val386=)
1g.173903911A>CCA343772074SERPINC1c.1373T>G (p.Val458Gly)
c.758T>G (p.Val253Gly)
c.1229T>G (p.Val410Gly)
c.1496T>G (p.Val499Gly)
c.1454T>G (p.Val485Gly)
c.1352T>G (p.Val451Gly)
c.1316T>G (p.Val439Gly)
c.1157T>G (p.Val386Gly)
1g.173903911A>GCA1251211SERPINC1c.1373T>C (p.Val458Ala)
c.758T>C (p.Val253Ala)
c.1229T>C (p.Val410Ala)
c.1496T>C (p.Val499Ala)
c.1454T>C (p.Val485Ala)
c.1352T>C (p.Val451Ala)
c.1316T>C (p.Val439Ala)
c.1157T>C (p.Val386Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.173903911A>TCA343772075SERPINC1c.1373T>A (p.Val458Glu)
c.758T>A (p.Val253Glu)
c.1229T>A (p.Val410Glu)
c.1496T>A (p.Val499Glu)
c.1454T>A (p.Val485Glu)
c.1352T>A (p.Val451Glu)
c.1316T>A (p.Val439Glu)
c.1157T>A (p.Val386Glu)
1g.173903912C>ACA343772077SERPINC1c.1372G>T (p.Val458Leu)
c.757G>T (p.Val253Leu)
c.1228G>T (p.Val410Leu)
c.1495G>T (p.Val499Leu)
c.1453G>T (p.Val485Leu)
c.1351G>T (p.Val451Leu)
c.1315G>T (p.Val439Leu)
c.1156G>T (p.Val386Leu)
1g.173903912C>GCA343772081SERPINC1c.1372G>C (p.Val458Leu)
c.757G>C (p.Val253Leu)
c.1228G>C (p.Val410Leu)
c.1495G>C (p.Val499Leu)
c.1453G>C (p.Val485Leu)
c.1351G>C (p.Val451Leu)
c.1315G>C (p.Val439Leu)
c.1156G>C (p.Val386Leu)
1g.173903912C>TCA343772083SERPINC1c.1372G>A (p.Val458Ile)
c.757G>A (p.Val253Ile)
c.1228G>A (p.Val410Ile)
c.1495G>A (p.Val499Ile)
c.1453G>A (p.Val485Ile)
c.1351G>A (p.Val451Ile)
c.1315G>A (p.Val439Ile)
c.1156G>A (p.Val386Ile)
1g.173903913T>ACA343772088SERPINC1c.1371A>T (p.Arg457Ser)
c.756A>T (p.Arg252Ser)
c.1227A>T (p.Arg409Ser)
c.1494A>T (p.Arg498Ser)
c.1452A>T (p.Arg484Ser)
c.1350A>T (p.Arg450Ser)
c.1314A>T (p.Arg438Ser)
c.1155A>T (p.Arg385Ser)
1g.173903913T>CCA1251212SERPINC1c.1371A>G (p.Arg457=)
c.756A>G (p.Arg252=)
c.1227A>G (p.Arg409=)
c.1494A>G (p.Arg498=)
c.1452A>G (p.Arg484=)
c.1350A>G (p.Arg450=)
c.1314A>G (p.Arg438=)
c.1155A>G (p.Arg385=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.173903913T>GCA343772086SERPINC1c.1371A>C (p.Arg457Ser)
c.756A>C (p.Arg252Ser)
c.1227A>C (p.Arg409Ser)
c.1494A>C (p.Arg498Ser)
c.1452A>C (p.Arg484Ser)
c.1350A>C (p.Arg450Ser)
c.1314A>C (p.Arg438Ser)
c.1155A>C (p.Arg385Ser)
1g.173903913T=CA1207934362SERPINC1c.1371A= (p.Arg457=)
c.756A= (p.Arg252=)
c.1227A= (p.Arg409=)
c.1494A= (p.Arg498=)
c.1452A= (p.Arg484=)
c.1350A= (p.Arg450=)
c.1314A= (p.Arg438=)
c.1155A= (p.Arg385=)
1g.173903914C>ACA343772090SERPINC1c.1370G>T (p.Arg457Ile)
c.755G>T (p.Arg252Ile)
c.1226G>T (p.Arg409Ile)
c.1493G>T (p.Arg498Ile)
c.1451G>T (p.Arg484Ile)
c.1349G>T (p.Arg450Ile)
c.1313G>T (p.Arg438Ile)
c.1154G>T (p.Arg385Ile)
1g.173903914C=CA1148869223SERPINC1c.1370G= (p.Arg457=)
c.755G= (p.Arg252=)
c.1226G= (p.Arg409=)
c.1493G= (p.Arg498=)
c.1451G= (p.Arg484=)
c.1349G= (p.Arg450=)
c.1313G= (p.Arg438=)
c.1154G= (p.Arg385=)
1g.173903914C>GCA343772092SERPINC1c.1370G>C (p.Arg457Thr)
c.755G>C (p.Arg252Thr)
c.1226G>C (p.Arg409Thr)
c.1493G>C (p.Arg498Thr)
c.1451G>C (p.Arg484Thr)
c.1349G>C (p.Arg450Thr)
c.1313G>C (p.Arg438Thr)
c.1154G>C (p.Arg385Thr)
1g.173903914C>TCA1251213SERPINC1c.1370G>A (p.Arg457Lys)
c.755G>A (p.Arg252Lys)
c.1226G>A (p.Arg409Lys)
c.1493G>A (p.Arg498Lys)
c.1451G>A (p.Arg484Lys)
c.1349G>A (p.Arg450Lys)
c.1313G>A (p.Arg438Lys)
c.1154G>A (p.Arg385Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.173903915T>ACA343772093SERPINC1c.1369A>T (p.Arg457Ter)
c.754A>T (p.Arg252Ter)
c.1225A>T (p.Arg409Ter)
c.1492A>T (p.Arg498Ter)
c.1450A>T (p.Arg484Ter)
c.1348A>T (p.Arg450Ter)
c.1312A>T (p.Arg438Ter)
c.1153A>T (p.Arg385Ter)
1g.173903915T>CCA343772094SERPINC1c.1369A>G (p.Arg457Gly)
c.754A>G (p.Arg252Gly)
c.1225A>G (p.Arg409Gly)
c.1492A>G (p.Arg498Gly)
c.1450A>G (p.Arg484Gly)
c.1348A>G (p.Arg450Gly)
c.1312A>G (p.Arg438Gly)
c.1153A>G (p.Arg385Gly)
1g.173903915T>GCA421821245SERPINC1c.1369A>C (p.Arg457=)
c.754A>C (p.Arg252=)
c.1225A>C (p.Arg409=)
c.1492A>C (p.Arg498=)
c.1450A>C (p.Arg484=)
c.1348A>C (p.Arg450=)
c.1312A>C (p.Arg438=)
c.1153A>C (p.Arg385=)
1g.173903916G>ACA421821247SERPINC1c.1368C>T (p.Gly456=)
c.753C>T (p.Gly251=)
c.1224C>T (p.Gly408=)
c.1491C>T (p.Gly497=)
c.1449C>T (p.Gly483=)
c.1347C>T (p.Gly449=)
c.1311C>T (p.Gly437=)
c.1152C>T (p.Gly384=)
1g.173903916G>CCA421821248SERPINC1c.1368C>G (p.Gly456=)
c.753C>G (p.Gly251=)
c.1224C>G (p.Gly408=)
c.1491C>G (p.Gly497=)
c.1449C>G (p.Gly483=)
c.1347C>G (p.Gly449=)
c.1311C>G (p.Gly437=)
c.1152C>G (p.Gly384=)
1g.173903916G>TCA421821251SERPINC1c.1368C>A (p.Gly456=)
c.753C>A (p.Gly251=)
c.1224C>A (p.Gly408=)
c.1491C>A (p.Gly497=)
c.1449C>A (p.Gly483=)
c.1347C>A (p.Gly449=)
c.1311C>A (p.Gly437=)
c.1152C>A (p.Gly384=)
1g.173903916_173903917delinsTGTAGCA2586967698SERPINC1c.1367_1368delinsCTACA (p.Gly456delinsAlaThr)
c.752_753delinsCTACA (p.Gly251delinsAlaThr)
c.1223_1224delinsCTACA (p.Gly408delinsAlaThr)
c.1490_1491delinsCTACA (p.Gly497delinsAlaThr)
c.1448_1449delinsCTACA (p.Gly483delinsAlaThr)
c.1346_1347delinsCTACA (p.Gly449delinsAlaThr)
c.1310_1311delinsCTACA (p.Gly437delinsAlaThr)
c.1151_1152delinsCTACA (p.Gly384delinsAlaThr)
1g.173903917C>ACA343772100SERPINC1c.1367G>T (p.Gly456Val)
c.752G>T (p.Gly251Val)
c.1223G>T (p.Gly408Val)
c.1490G>T (p.Gly497Val)
c.1448G>T (p.Gly483Val)
c.1346G>T (p.Gly449Val)
c.1310G>T (p.Gly437Val)
c.1151G>T (p.Gly384Val)
1g.173903917C=CA1207934363SERPINC1c.1367G= (p.Gly456=)
c.752G= (p.Gly251=)
c.1223G= (p.Gly408=)
c.1490G= (p.Gly497=)
c.1448G= (p.Gly483=)
c.1346G= (p.Gly449=)
c.1310G= (p.Gly437=)
c.1151G= (p.Gly384=)
1g.173903917C>GCA343772096SERPINC1c.1367G>C (p.Gly456Ala)
c.752G>C (p.Gly251Ala)
c.1223G>C (p.Gly408Ala)
c.1490G>C (p.Gly497Ala)
c.1448G>C (p.Gly483Ala)
c.1346G>C (p.Gly449Ala)
c.1310G>C (p.Gly437Ala)
c.1151G>C (p.Gly384Ala)
1g.173903917C>TCA343772097SERPINC1c.1367G>A (p.Gly456Asp)
c.752G>A (p.Gly251Asp)
c.1223G>A (p.Gly408Asp)
c.1490G>A (p.Gly497Asp)
c.1448G>A (p.Gly483Asp)
c.1346G>A (p.Gly449Asp)
c.1310G>A (p.Gly437Asp)
c.1151G>A (p.Gly384Asp)
dbSNP
1g.173903919dupCA2582342985SERPINC1c.1367dup (p.Arg457GlnfsTer8)
c.752dup (p.Arg252GlnfsTer8)
c.1223dup (p.Arg409GlnfsTer8)
c.1490dup (p.Arg498GlnfsTer8)
c.1448dup (p.Arg484GlnfsTer8)
c.1346dup (p.Arg450GlnfsTer8)
c.1310dup (p.Arg438GlnfsTer8)
c.1151dup (p.Arg385GlnfsTer8)
1g.173903919delCA2586967699SERPINC1c.1367del (p.Gly456AlafsTer3)
c.752del (p.Gly251AlafsTer3)
c.1223del (p.Gly408AlafsTer3)
c.1490del (p.Gly497AlafsTer3)
c.1448del (p.Gly483AlafsTer3)
c.1346del (p.Gly449AlafsTer3)
c.1310del (p.Gly437AlafsTer3)
c.1151del (p.Gly384AlafsTer3)
1g.173903918C>ACA343772102SERPINC1c.1366G>T (p.Gly456Cys)
c.751G>T (p.Gly251Cys)
c.1222G>T (p.Gly408Cys)
c.1489G>T (p.Gly497Cys)
c.1447G>T (p.Gly483Cys)
c.1345G>T (p.Gly449Cys)
c.1309G>T (p.Gly437Cys)
c.1150G>T (p.Gly384Cys)
1g.173903918C>GCA343772104SERPINC1c.1366G>C (p.Gly456Arg)
c.751G>C (p.Gly251Arg)
c.1222G>C (p.Gly408Arg)
c.1489G>C (p.Gly497Arg)
c.1447G>C (p.Gly483Arg)
c.1345G>C (p.Gly449Arg)
c.1309G>C (p.Gly437Arg)
c.1150G>C (p.Gly384Arg)
ClinVar
1g.173903918C>TCA343772106SERPINC1c.1366G>A (p.Gly456Ser)
c.751G>A (p.Gly251Ser)
c.1222G>A (p.Gly408Ser)
c.1489G>A (p.Gly497Ser)
c.1447G>A (p.Gly483Ser)
c.1345G>A (p.Gly449Ser)
c.1309G>A (p.Gly437Ser)
c.1150G>A (p.Gly384Ser)
1g.173903919C>ACA343772109SERPINC1c.1365G>T (p.Met455Ile)
c.750G>T (p.Met250Ile)
c.1221G>T (p.Met407Ile)
c.1488G>T (p.Met496Ile)
c.1446G>T (p.Met482Ile)
c.1344G>T (p.Met448Ile)
c.1308G>T (p.Met436Ile)
c.1149G>T (p.Met383Ile)
1g.173903919C=CA1207934364SERPINC1c.1365G= (p.Met455=)
c.750G= (p.Met250=)
c.1221G= (p.Met407=)
c.1488G= (p.Met496=)
c.1446G= (p.Met482=)
c.1344G= (p.Met448=)
c.1308G= (p.Met436=)
c.1149G= (p.Met383=)
1g.173903919C>GCA343772111SERPINC1c.1365G>C (p.Met455Ile)
c.750G>C (p.Met250Ile)
c.1221G>C (p.Met407Ile)
c.1488G>C (p.Met496Ile)
c.1446G>C (p.Met482Ile)
c.1344G>C (p.Met448Ile)
c.1308G>C (p.Met436Ile)
c.1149G>C (p.Met383Ile)
1g.173903919C>TCA343772112SERPINC1c.1365G>A (p.Met455Ile)
c.750G>A (p.Met250Ile)
c.1221G>A (p.Met407Ile)
c.1488G>A (p.Met496Ile)
c.1446G>A (p.Met482Ile)
c.1344G>A (p.Met448Ile)
c.1308G>A (p.Met436Ile)
c.1149G>A (p.Met383Ile)
dbSNP
1g.173903920A>CCA343772119SERPINC1c.1364T>G (p.Met455Arg)
c.749T>G (p.Met250Arg)
c.1220T>G (p.Met407Arg)
c.1487T>G (p.Met496Arg)
c.1445T>G (p.Met482Arg)
c.1343T>G (p.Met448Arg)
c.1307T>G (p.Met436Arg)
c.1148T>G (p.Met383Arg)
1g.173903920A>GCA343772115SERPINC1c.1364T>C (p.Met455Thr)
c.749T>C (p.Met250Thr)
c.1220T>C (p.Met407Thr)
c.1487T>C (p.Met496Thr)
c.1445T>C (p.Met482Thr)
c.1343T>C (p.Met448Thr)
c.1307T>C (p.Met436Thr)
c.1148T>C (p.Met383Thr)
1g.173903920A>TCA343772117SERPINC1c.1364T>A (p.Met455Lys)
c.749T>A (p.Met250Lys)
c.1220T>A (p.Met407Lys)
c.1487T>A (p.Met496Lys)
c.1445T>A (p.Met482Lys)
c.1343T>A (p.Met448Lys)
c.1307T>A (p.Met436Lys)
c.1148T>A (p.Met383Lys)
1g.173903921T>ACA343772122SERPINC1c.1363A>T (p.Met455Leu)
c.748A>T (p.Met250Leu)
c.1219A>T (p.Met407Leu)
c.1486A>T (p.Met496Leu)
c.1444A>T (p.Met482Leu)
c.1342A>T (p.Met448Leu)
c.1306A>T (p.Met436Leu)
c.1147A>T (p.Met383Leu)
1g.173903921T>CCA343772124SERPINC1c.1363A>G (p.Met455Val)
c.748A>G (p.Met250Val)
c.1219A>G (p.Met407Val)
c.1486A>G (p.Met496Val)
c.1444A>G (p.Met482Val)
c.1342A>G (p.Met448Val)
c.1306A>G (p.Met436Val)
c.1147A>G (p.Met383Val)
1g.173903921T>GCA343772126SERPINC1c.1363A>C (p.Met455Leu)
c.748A>C (p.Met250Leu)
c.1219A>C (p.Met407Leu)
c.1486A>C (p.Met496Leu)
c.1444A>C (p.Met482Leu)
c.1342A>C (p.Met448Leu)
c.1306A>C (p.Met436Leu)
c.1147A>C (p.Met383Leu)
1g.173903922G>ACA421821273SERPINC1c.1362C>T (p.Phe454=)
c.747C>T (p.Phe249=)
c.1218C>T (p.Phe406=)
c.1485C>T (p.Phe495=)
c.1443C>T (p.Phe481=)
c.1341C>T (p.Phe447=)
c.1305C>T (p.Phe435=)
c.1146C>T (p.Phe382=)
1g.173903922G>CCA343772128SERPINC1c.1362C>G (p.Phe454Leu)
c.747C>G (p.Phe249Leu)
c.1218C>G (p.Phe406Leu)
c.1485C>G (p.Phe495Leu)
c.1443C>G (p.Phe481Leu)
c.1341C>G (p.Phe447Leu)
c.1305C>G (p.Phe435Leu)
c.1146C>G (p.Phe382Leu)
1g.173903922G>TCA343772129SERPINC1c.1362C>A (p.Phe454Leu)
c.747C>A (p.Phe249Leu)
c.1218C>A (p.Phe406Leu)
c.1485C>A (p.Phe495Leu)
c.1443C>A (p.Phe481Leu)
c.1341C>A (p.Phe447Leu)
c.1305C>A (p.Phe435Leu)
c.1146C>A (p.Phe382Leu)
1g.173903923A=CA1207934365SERPINC1c.1361T= (p.Phe454=)
c.746T= (p.Phe249=)
c.1217T= (p.Phe406=)
c.1484T= (p.Phe495=)
c.1442T= (p.Phe481=)
c.1340T= (p.Phe447=)
c.1304T= (p.Phe435=)
c.1145T= (p.Phe382=)
1g.173903923A>CCA343772133SERPINC1c.1361T>G (p.Phe454Cys)
c.746T>G (p.Phe249Cys)
c.1217T>G (p.Phe406Cys)
c.1484T>G (p.Phe495Cys)
c.1442T>G (p.Phe481Cys)
c.1340T>G (p.Phe447Cys)
c.1304T>G (p.Phe435Cys)
c.1145T>G (p.Phe382Cys)
dbSNP gnomAD v3 gnomAD v4
1g.173903923A>GCA343772136SERPINC1c.1361T>C (p.Phe454Ser)
c.746T>C (p.Phe249Ser)
c.1217T>C (p.Phe406Ser)
c.1484T>C (p.Phe495Ser)
c.1442T>C (p.Phe481Ser)
c.1340T>C (p.Phe447Ser)
c.1304T>C (p.Phe435Ser)
c.1145T>C (p.Phe382Ser)
1g.173903923A>TCA343772134SERPINC1c.1361T>A (p.Phe454Tyr)
c.746T>A (p.Phe249Tyr)
c.1217T>A (p.Phe406Tyr)
c.1484T>A (p.Phe495Tyr)
c.1442T>A (p.Phe481Tyr)
c.1340T>A (p.Phe447Tyr)
c.1304T>A (p.Phe435Tyr)
c.1145T>A (p.Phe382Tyr)

Number of alleles fetched