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.173903901_173903909delCA2582342991SERPINC1c.1375_1383del (p.Ala459_Pro461del)
c.760_768del (p.Ala254_Pro256del)
c.1231_1239del (p.Ala411_Pro413del)
c.1498_1506del (p.Ala500_Pro502del)
c.1456_1464del (p.Ala486_Pro488del)
c.1354_1362del (p.Ala452_Pro454del)
c.1318_1326del (p.Ala440_Pro442del)
c.1159_1167del (p.Ala387_Pro389del)
1g.173903903G>ACA343772038SERPINC1c.1381C>T (p.Pro461Ser)
c.766C>T (p.Pro256Ser)
c.1237C>T (p.Pro413Ser)
c.1504C>T (p.Pro502Ser)
c.1462C>T (p.Pro488Ser)
c.1360C>T (p.Pro454Ser)
c.1324C>T (p.Pro442Ser)
c.1165C>T (p.Pro389Ser)
 COSMIC
1g.173903903G>CCA343772040SERPINC1c.1381C>G (p.Pro461Ala)
c.766C>G (p.Pro256Ala)
c.1237C>G (p.Pro413Ala)
c.1504C>G (p.Pro502Ala)
c.1462C>G (p.Pro488Ala)
c.1360C>G (p.Pro454Ala)
c.1324C>G (p.Pro442Ala)
c.1165C>G (p.Pro389Ala)
1g.173903903G>TCA343772042SERPINC1c.1381C>A (p.Pro461Thr)
c.766C>A (p.Pro256Thr)
c.1237C>A (p.Pro413Thr)
c.1504C>A (p.Pro502Thr)
c.1462C>A (p.Pro488Thr)
c.1360C>A (p.Pro454Thr)
c.1324C>A (p.Pro442Thr)
c.1165C>A (p.Pro389Thr)
 gnomAD v4
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.173903904G>ACA421821191SERPINC1c.1380C>T (p.Asn460=)
c.765C>T (p.Asn255=)
c.1236C>T (p.Asn412=)
c.1503C>T (p.Asn501=)
c.1461C>T (p.Asn487=)
c.1359C>T (p.Asn453=)
c.1323C>T (p.Asn441=)
c.1164C>T (p.Asn388=)
1g.173903904G>CCA343772045SERPINC1c.1380C>G (p.Asn460Lys)
c.765C>G (p.Asn255Lys)
c.1236C>G (p.Asn412Lys)
c.1503C>G (p.Asn501Lys)
c.1461C>G (p.Asn487Lys)
c.1359C>G (p.Asn453Lys)
c.1323C>G (p.Asn441Lys)
c.1164C>G (p.Asn388Lys)
1g.173903904G>TCA343772047SERPINC1c.1380C>A (p.Asn460Lys)
c.765C>A (p.Asn255Lys)
c.1236C>A (p.Asn412Lys)
c.1503C>A (p.Asn501Lys)
c.1461C>A (p.Asn487Lys)
c.1359C>A (p.Asn453Lys)
c.1323C>A (p.Asn441Lys)
c.1164C>A (p.Asn388Lys)
 gnomAD v4
1g.173903905T>ACA343772053SERPINC1c.1379A>T (p.Asn460Ile)
c.764A>T (p.Asn255Ile)
c.1235A>T (p.Asn412Ile)
c.1502A>T (p.Asn501Ile)
c.1460A>T (p.Asn487Ile)
c.1358A>T (p.Asn453Ile)
c.1322A>T (p.Asn441Ile)
c.1163A>T (p.Asn388Ile)
1g.173903905T>CCA343772050SERPINC1c.1379A>G (p.Asn460Ser)
c.764A>G (p.Asn255Ser)
c.1235A>G (p.Asn412Ser)
c.1502A>G (p.Asn501Ser)
c.1460A>G (p.Asn487Ser)
c.1358A>G (p.Asn453Ser)
c.1322A>G (p.Asn441Ser)
c.1163A>G (p.Asn388Ser)
1g.173903905T>GCA343772051SERPINC1c.1379A>C (p.Asn460Thr)
c.764A>C (p.Asn255Thr)
c.1235A>C (p.Asn412Thr)
c.1502A>C (p.Asn501Thr)
c.1460A>C (p.Asn487Thr)
c.1358A>C (p.Asn453Thr)
c.1322A>C (p.Asn441Thr)
c.1163A>C (p.Asn388Thr)
1g.173903906T>ACA343772056SERPINC1c.1378A>T (p.Asn460Tyr)
c.763A>T (p.Asn255Tyr)
c.1234A>T (p.Asn412Tyr)
c.1501A>T (p.Asn501Tyr)
c.1459A>T (p.Asn487Tyr)
c.1357A>T (p.Asn453Tyr)
c.1321A>T (p.Asn441Tyr)
c.1162A>T (p.Asn388Tyr)
1g.173903906T>CCA343772058SERPINC1c.1378A>G (p.Asn460Asp)
c.763A>G (p.Asn255Asp)
c.1234A>G (p.Asn412Asp)
c.1501A>G (p.Asn501Asp)
c.1459A>G (p.Asn487Asp)
c.1357A>G (p.Asn453Asp)
c.1321A>G (p.Asn441Asp)
c.1162A>G (p.Asn388Asp)
1g.173903906T>GCA343772060SERPINC1c.1378A>C (p.Asn460His)
c.763A>C (p.Asn255His)
c.1234A>C (p.Asn412His)
c.1501A>C (p.Asn501His)
c.1459A>C (p.Asn487His)
c.1357A>C (p.Asn453His)
c.1321A>C (p.Asn441His)
c.1162A>C (p.Asn388His)
1g.173903907G>ACA421821208SERPINC1c.1377C>T (p.Ala459=)
c.762C>T (p.Ala254=)
c.1233C>T (p.Ala411=)
c.1500C>T (p.Ala500=)
c.1458C>T (p.Ala486=)
c.1356C>T (p.Ala452=)
c.1320C>T (p.Ala440=)
c.1161C>T (p.Ala387=)
1g.173903907G>CCA421821205SERPINC1c.1377C>G (p.Ala459=)
c.762C>G (p.Ala254=)
c.1233C>G (p.Ala411=)
c.1500C>G (p.Ala500=)
c.1458C>G (p.Ala486=)
c.1356C>G (p.Ala452=)
c.1320C>G (p.Ala440=)
c.1161C>G (p.Ala387=)
1g.173903907G>TCA421821204SERPINC1c.1377C>A (p.Ala459=)
c.762C>A (p.Ala254=)
c.1233C>A (p.Ala411=)
c.1500C>A (p.Ala500=)
c.1458C>A (p.Ala486=)
c.1356C>A (p.Ala452=)
c.1320C>A (p.Ala440=)
c.1161C>A (p.Ala387=)
1g.173903908delCA2580060415SERPINC1c.1377del (p.Asn460ThrfsTer20)
c.762del (p.Asn255ThrfsTer20)
c.1233del (p.Asn412ThrfsTer20)
c.1500del (p.Asn501ThrfsTer20)
c.1458del (p.Asn487ThrfsTer20)
c.1356del (p.Asn453ThrfsTer20)
c.1320del (p.Asn441ThrfsTer20)
c.1161del (p.Asn388ThrfsTer20)
1g.173903908G>ACA343772062SERPINC1c.1376C>T (p.Ala459Val)
c.761C>T (p.Ala254Val)
c.1232C>T (p.Ala411Val)
c.1499C>T (p.Ala500Val)
c.1457C>T (p.Ala486Val)
c.1355C>T (p.Ala452Val)
c.1319C>T (p.Ala440Val)
c.1160C>T (p.Ala387Val)
 gnomAD v4
1g.173903908G>CCA343772064SERPINC1c.1376C>G (p.Ala459Gly)
c.761C>G (p.Ala254Gly)
c.1232C>G (p.Ala411Gly)
c.1499C>G (p.Ala500Gly)
c.1457C>G (p.Ala486Gly)
c.1355C>G (p.Ala452Gly)
c.1319C>G (p.Ala440Gly)
c.1160C>G (p.Ala387Gly)
1g.173903908G=CA1207934360SERPINC1c.1376C= (p.Ala459=)
c.761C= (p.Ala254=)
c.1232C= (p.Ala411=)
c.1499C= (p.Ala500=)
c.1457C= (p.Ala486=)
c.1355C= (p.Ala452=)
c.1319C= (p.Ala440=)
c.1160C= (p.Ala387=)
1g.173903908G>TCA343772066SERPINC1c.1376C>A (p.Ala459Asp)
c.761C>A (p.Ala254Asp)
c.1232C>A (p.Ala411Asp)
c.1499C>A (p.Ala500Asp)
c.1457C>A (p.Ala486Asp)
c.1355C>A (p.Ala452Asp)
c.1319C>A (p.Ala440Asp)
c.1160C>A (p.Ala387Asp)
 ClinVar dbSNP
1g.173903909C>ACA343772070SERPINC1c.1375G>T (p.Ala459Ser)
c.760G>T (p.Ala254Ser)
c.1231G>T (p.Ala411Ser)
c.1498G>T (p.Ala500Ser)
c.1456G>T (p.Ala486Ser)
c.1354G>T (p.Ala452Ser)
c.1318G>T (p.Ala440Ser)
c.1159G>T (p.Ala387Ser)
1g.173903909C>GCA343772072SERPINC1c.1375G>C (p.Ala459Pro)
c.760G>C (p.Ala254Pro)
c.1231G>C (p.Ala411Pro)
c.1498G>C (p.Ala500Pro)
c.1456G>C (p.Ala486Pro)
c.1354G>C (p.Ala452Pro)
c.1318G>C (p.Ala440Pro)
c.1159G>C (p.Ala387Pro)
1g.173903909C>TCA343772068SERPINC1c.1375G>A (p.Ala459Thr)
c.760G>A (p.Ala254Thr)
c.1231G>A (p.Ala411Thr)
c.1498G>A (p.Ala500Thr)
c.1456G>A (p.Ala486Thr)
c.1354G>A (p.Ala452Thr)
c.1318G>A (p.Ala440Thr)
c.1159G>A (p.Ala387Thr)
1g.173903910T>ACA421821219SERPINC1c.1374A>T (p.Val458=)
c.759A>T (p.Val253=)
c.1230A>T (p.Val410=)
c.1497A>T (p.Val499=)
c.1455A>T (p.Val485=)
c.1353A>T (p.Val451=)
c.1317A>T (p.Val439=)
c.1158A>T (p.Val386=)
1g.173903910T>CCA421821220SERPINC1c.1374A>G (p.Val458=)
c.759A>G (p.Val253=)
c.1230A>G (p.Val410=)
c.1497A>G (p.Val499=)
c.1455A>G (p.Val485=)
c.1353A>G (p.Val451=)
c.1317A>G (p.Val439=)
c.1158A>G (p.Val386=)
 gnomAD v4
1g.173903910T>GCA421821224SERPINC1c.1374A>C (p.Val458=)
c.759A>C (p.Val253=)
c.1230A>C (p.Val410=)
c.1497A>C (p.Val499=)
c.1455A>C (p.Val485=)
c.1353A>C (p.Val451=)
c.1317A>C (p.Val439=)
c.1158A>C (p.Val386=)
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=)

Number of alleles fetched