Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.173903868G>TCA32777199SERPINC1c.*21C>A (p.=)
dbSNP
1g.173903869G>CCA527298257SERPINC1c.*20C>G (p.=)
gnomAD
1g.173903871G>TCA1251208SERPINC1c.*18C>A (p.=)
dbSNP ExAC gnomAD
1g.173903872C>GCA1251209SERPINC1c.*17G>C (p.=)
dbSNP ExAC gnomAD
1g.173903874_173903875insGCA646271017SERPINC1c.*14_*15insC (p.=)
COSMIC COSMIC
1g.173903877A>CCA1251210SERPINC1c.*12T>G (p.=)
dbSNP ExAC gnomAD
1g.173903878A>GCA1009275059SERPINC1c.*11T>C (p.=)
1g.173903883A>GCA32777211SERPINC1c.*6T>C (p.=)
dbSNP
1g.173903885C>ACA32777215SERPINC1c.*4G>T (p.=)
dbSNP
1g.173903889T>ACA343771970SERPINC1c.1395A>T (p.Ter465Tyr)
c.780A>T (p.Ter260Tyr)
c.1251A>T (p.Ter417Tyr)
c.1518A>T (p.Ter506Tyr)
c.1476A>T (p.Ter492Tyr)
c.1374A>T (p.Ter458Tyr)
c.1338A>T (p.Ter446Tyr)
c.1179A>T (p.Ter393Tyr)
1g.173903889T>CCA421821125SERPINC1c.1395A>G (p.Ter465=)
c.780A>G (p.Ter260=)
c.1251A>G (p.Ter417=)
c.1518A>G (p.Ter506=)
c.1476A>G (p.Ter492=)
c.1374A>G (p.Ter458=)
c.1338A>G (p.Ter446=)
c.1179A>G (p.Ter393=)
1g.173903889T>GCA343771973SERPINC1c.1395A>C (p.Ter465Tyr)
c.780A>C (p.Ter260Tyr)
c.1251A>C (p.Ter417Tyr)
c.1518A>C (p.Ter506Tyr)
c.1476A>C (p.Ter492Tyr)
c.1374A>C (p.Ter458Tyr)
c.1338A>C (p.Ter446Tyr)
c.1179A>C (p.Ter393Tyr)
1g.173903890T>ACA343771976SERPINC1c.1394A>T (p.Ter465Leu)
c.779A>T (p.Ter260Leu)
c.1250A>T (p.Ter417Leu)
c.1517A>T (p.Ter506Leu)
c.1475A>T (p.Ter492Leu)
c.1373A>T (p.Ter458Leu)
c.1337A>T (p.Ter446Leu)
c.1178A>T (p.Ter393Leu)
1g.173903890T>CCA421821132SERPINC1c.1394A>G (p.Ter465=)
c.779A>G (p.Ter260=)
c.1250A>G (p.Ter417=)
c.1517A>G (p.Ter506=)
c.1475A>G (p.Ter492=)
c.1373A>G (p.Ter458=)
c.1337A>G (p.Ter446=)
c.1178A>G (p.Ter393=)
1g.173903890T>GCA343771979SERPINC1c.1394A>C (p.Ter465Ser)
c.779A>C (p.Ter260Ser)
c.1250A>C (p.Ter417Ser)
c.1517A>C (p.Ter506Ser)
c.1475A>C (p.Ter492Ser)
c.1373A>C (p.Ter458Ser)
c.1337A>C (p.Ter446Ser)
c.1178A>C (p.Ter393Ser)
1g.173903891A>CCA343771983SERPINC1c.1393T>G (p.Ter465Glu)
c.778T>G (p.Ter260Glu)
c.1249T>G (p.Ter417Glu)
c.1516T>G (p.Ter506Glu)
c.1474T>G (p.Ter492Glu)
c.1372T>G (p.Ter458Glu)
c.1336T>G (p.Ter446Glu)
c.1177T>G (p.Ter393Glu)
1g.173903891A>GCA343771985SERPINC1c.1393T>C (p.Ter465Gln)
c.778T>C (p.Ter260Gln)
c.1249T>C (p.Ter417Gln)
c.1516T>C (p.Ter506Gln)
c.1474T>C (p.Ter492Gln)
c.1372T>C (p.Ter458Gln)
c.1336T>C (p.Ter446Gln)
c.1177T>C (p.Ter393Gln)
ClinVar
1g.173903891A>TCA343771987SERPINC1c.1393T>A (p.Ter465Lys)
c.778T>A (p.Ter260Lys)
c.1249T>A (p.Ter417Lys)
c.1516T>A (p.Ter506Lys)
c.1474T>A (p.Ter492Lys)
c.1372T>A (p.Ter458Lys)
c.1336T>A (p.Ter446Lys)
c.1177T>A (p.Ter393Lys)
1g.173903892C>ACA343771989SERPINC1c.1392G>T (p.Lys464Asn)
c.777G>T (p.Lys259Asn)
c.1248G>T (p.Lys416Asn)
c.1515G>T (p.Lys505Asn)
c.1473G>T (p.Lys491Asn)
c.1371G>T (p.Lys457Asn)
c.1335G>T (p.Lys445Asn)
c.1176G>T (p.Lys392Asn)
1g.173903892C>GCA343771991SERPINC1c.1392G>C (p.Lys464Asn)
c.777G>C (p.Lys259Asn)
c.1248G>C (p.Lys416Asn)
c.1515G>C (p.Lys505Asn)
c.1473G>C (p.Lys491Asn)
c.1371G>C (p.Lys457Asn)
c.1335G>C (p.Lys445Asn)
c.1176G>C (p.Lys392Asn)
1g.173903892C>TCA421821142SERPINC1c.1392G>A (p.Lys464=)
c.777G>A (p.Lys259=)
c.1248G>A (p.Lys416=)
c.1515G>A (p.Lys505=)
c.1473G>A (p.Lys491=)
c.1371G>A (p.Lys457=)
c.1335G>A (p.Lys445=)
c.1176G>A (p.Lys392=)
1g.173903893T>ACA343771993SERPINC1c.1391A>T (p.Lys464Met)
c.776A>T (p.Lys259Met)
c.1247A>T (p.Lys416Met)
c.1514A>T (p.Lys505Met)
c.1472A>T (p.Lys491Met)
c.1370A>T (p.Lys457Met)
c.1334A>T (p.Lys445Met)
c.1175A>T (p.Lys392Met)
1g.173903893T>CCA343771994SERPINC1c.1391A>G (p.Lys464Arg)
c.776A>G (p.Lys259Arg)
c.1247A>G (p.Lys416Arg)
c.1514A>G (p.Lys505Arg)
c.1472A>G (p.Lys491Arg)
c.1370A>G (p.Lys457Arg)
c.1334A>G (p.Lys445Arg)
c.1175A>G (p.Lys392Arg)
1g.173903893T>GCA343771995SERPINC1c.1391A>C (p.Lys464Thr)
c.776A>C (p.Lys259Thr)
c.1247A>C (p.Lys416Thr)
c.1514A>C (p.Lys505Thr)
c.1472A>C (p.Lys491Thr)
c.1370A>C (p.Lys457Thr)
c.1334A>C (p.Lys445Thr)
c.1175A>C (p.Lys392Thr)
1g.173903894T>ACA343771998SERPINC1c.1390A>T (p.Lys464Ter)
c.775A>T (p.Lys259Ter)
c.1246A>T (p.Lys416Ter)
c.1513A>T (p.Lys505Ter)
c.1471A>T (p.Lys491Ter)
c.1369A>T (p.Lys457Ter)
c.1333A>T (p.Lys445Ter)
c.1174A>T (p.Lys392Ter)
1g.173903894T>CCA343772000SERPINC1c.1390A>G (p.Lys464Glu)
c.775A>G (p.Lys259Glu)
c.1246A>G (p.Lys416Glu)
c.1513A>G (p.Lys505Glu)
c.1471A>G (p.Lys491Glu)
c.1369A>G (p.Lys457Glu)
c.1333A>G (p.Lys445Glu)
c.1174A>G (p.Lys392Glu)
1g.173903894T>GCA343772001SERPINC1c.1390A>C (p.Lys464Gln)
c.775A>C (p.Lys259Gln)
c.1246A>C (p.Lys416Gln)
c.1513A>C (p.Lys505Gln)
c.1471A>C (p.Lys491Gln)
c.1369A>C (p.Lys457Gln)
c.1333A>C (p.Lys445Gln)
c.1174A>C (p.Lys392Gln)
1g.173903895A>CCA421821152SERPINC1c.1389T>G (p.Val463=)
c.774T>G (p.Val258=)
c.1245T>G (p.Val415=)
c.1512T>G (p.Val504=)
c.1470T>G (p.Val490=)
c.1368T>G (p.Val456=)
c.1332T>G (p.Val444=)
c.1173T>G (p.Val391=)
1g.173903895A>GCA421821154SERPINC1c.1389T>C (p.Val463=)
c.774T>C (p.Val258=)
c.1245T>C (p.Val415=)
c.1512T>C (p.Val504=)
c.1470T>C (p.Val490=)
c.1368T>C (p.Val456=)
c.1332T>C (p.Val444=)
c.1173T>C (p.Val391=)
COSMIC
1g.173903895A>TCA421821156SERPINC1c.1389T>A (p.Val463=)
c.774T>A (p.Val258=)
c.1245T>A (p.Val415=)
c.1512T>A (p.Val504=)
c.1470T>A (p.Val490=)
c.1368T>A (p.Val456=)
c.1332T>A (p.Val444=)
c.1173T>A (p.Val391=)
1g.173903895_173903898dupCA527601309SERPINC1c.1386_1389dup (p.Lys464CysfsTer2)
c.771_774dup (p.Lys259CysfsTer2)
c.1242_1245dup (p.Lys416CysfsTer2)
c.1509_1512dup (p.Lys505CysfsTer2)
c.1467_1470dup (p.Lys491CysfsTer2)
c.1365_1368dup (p.Lys457CysfsTer2)
c.1329_1332dup (p.Lys445CysfsTer2)
c.1170_1173dup (p.Lys392CysfsTer2)
dbSNP gnomAD
1g.173903896A>CCA343772006SERPINC1c.1388T>G (p.Val463Gly)
c.773T>G (p.Val258Gly)
c.1244T>G (p.Val415Gly)
c.1511T>G (p.Val504Gly)
c.1469T>G (p.Val490Gly)
c.1367T>G (p.Val456Gly)
c.1331T>G (p.Val444Gly)
c.1172T>G (p.Val391Gly)
1g.173903896A>GCA343772007SERPINC1c.1388T>C (p.Val463Ala)
c.773T>C (p.Val258Ala)
c.1244T>C (p.Val415Ala)
c.1511T>C (p.Val504Ala)
c.1469T>C (p.Val490Ala)
c.1367T>C (p.Val456Ala)
c.1331T>C (p.Val444Ala)
c.1172T>C (p.Val391Ala)
1g.173903896A>TCA343772004SERPINC1c.1388T>A (p.Val463Asp)
c.773T>A (p.Val258Asp)
c.1244T>A (p.Val415Asp)
c.1511T>A (p.Val504Asp)
c.1469T>A (p.Val490Asp)
c.1367T>A (p.Val456Asp)
c.1331T>A (p.Val444Asp)
c.1172T>A (p.Val391Asp)
1g.173903897C>ACA343772010SERPINC1c.1387G>T (p.Val463Phe)
c.772G>T (p.Val258Phe)
c.1243G>T (p.Val415Phe)
c.1510G>T (p.Val504Phe)
c.1468G>T (p.Val490Phe)
c.1366G>T (p.Val456Phe)
c.1330G>T (p.Val444Phe)
c.1171G>T (p.Val391Phe)
1g.173903897C>GCA343772012SERPINC1c.1387G>C (p.Val463Leu)
c.772G>C (p.Val258Leu)
c.1243G>C (p.Val415Leu)
c.1510G>C (p.Val504Leu)
c.1468G>C (p.Val490Leu)
c.1366G>C (p.Val456Leu)
c.1330G>C (p.Val444Leu)
c.1171G>C (p.Val391Leu)
1g.173903897C>TCA343772014SERPINC1c.1387G>A (p.Val463Ile)
c.772G>A (p.Val258Ile)
c.1243G>A (p.Val415Ile)
c.1510G>A (p.Val504Ile)
c.1468G>A (p.Val490Ile)
c.1366G>A (p.Val456Ile)
c.1330G>A (p.Val444Ile)
c.1171G>A (p.Val391Ile)
1g.173903898A>CCA343772015SERPINC1c.1386T>G (p.Cys462Trp)
c.771T>G (p.Cys257Trp)
c.1242T>G (p.Cys414Trp)
c.1509T>G (p.Cys503Trp)
c.1467T>G (p.Cys489Trp)
c.1365T>G (p.Cys455Trp)
c.1329T>G (p.Cys443Trp)
c.1170T>G (p.Cys390Trp)
1g.173903898A>GCA421821167SERPINC1c.1386T>C (p.Cys462=)
c.771T>C (p.Cys257=)
c.1242T>C (p.Cys414=)
c.1509T>C (p.Cys503=)
c.1467T>C (p.Cys489=)
c.1365T>C (p.Cys455=)
c.1329T>C (p.Cys443=)
c.1170T>C (p.Cys390=)
1g.173903898A>TCA343772017SERPINC1c.1386T>A (p.Cys462Ter)
c.771T>A (p.Cys257Ter)
c.1242T>A (p.Cys414Ter)
c.1509T>A (p.Cys503Ter)
c.1467T>A (p.Cys489Ter)
c.1365T>A (p.Cys455Ter)
c.1329T>A (p.Cys443Ter)
c.1170T>A (p.Cys390Ter)
1g.173903899C>ACA343772020SERPINC1c.1385G>T (p.Cys462Phe)
c.770G>T (p.Cys257Phe)
c.1241G>T (p.Cys414Phe)
c.1508G>T (p.Cys503Phe)
c.1466G>T (p.Cys489Phe)
c.1364G>T (p.Cys455Phe)
c.1328G>T (p.Cys443Phe)
c.1169G>T (p.Cys390Phe)
1g.173903899C>GCA343772021SERPINC1c.1385G>C (p.Cys462Ser)
c.770G>C (p.Cys257Ser)
c.1241G>C (p.Cys414Ser)
c.1508G>C (p.Cys503Ser)
c.1466G>C (p.Cys489Ser)
c.1364G>C (p.Cys455Ser)
c.1328G>C (p.Cys443Ser)
c.1169G>C (p.Cys390Ser)
1g.173903899C>TCA343772023SERPINC1c.1385G>A (p.Cys462Tyr)
c.770G>A (p.Cys257Tyr)
c.1241G>A (p.Cys414Tyr)
c.1508G>A (p.Cys503Tyr)
c.1466G>A (p.Cys489Tyr)
c.1364G>A (p.Cys455Tyr)
c.1328G>A (p.Cys443Tyr)
c.1169G>A (p.Cys390Tyr)
1g.173903900A>CCA343772026SERPINC1c.1384T>G (p.Cys462Gly)
c.769T>G (p.Cys257Gly)
c.1240T>G (p.Cys414Gly)
c.1507T>G (p.Cys503Gly)
c.1465T>G (p.Cys489Gly)
c.1363T>G (p.Cys455Gly)
c.1327T>G (p.Cys443Gly)
c.1168T>G (p.Cys390Gly)
1g.173903900A>GCA343772027SERPINC1c.1384T>C (p.Cys462Arg)
c.769T>C (p.Cys257Arg)
c.1240T>C (p.Cys414Arg)
c.1507T>C (p.Cys503Arg)
c.1465T>C (p.Cys489Arg)
c.1363T>C (p.Cys455Arg)
c.1327T>C (p.Cys443Arg)
c.1168T>C (p.Cys390Arg)
1g.173903900A>TCA343772029SERPINC1c.1384T>A (p.Cys462Ser)
c.769T>A (p.Cys257Ser)
c.1240T>A (p.Cys414Ser)
c.1507T>A (p.Cys503Ser)
c.1465T>A (p.Cys489Ser)
c.1363T>A (p.Cys455Ser)
c.1327T>A (p.Cys443Ser)
c.1168T>A (p.Cys390Ser)
1g.173903901A>CCA421821176SERPINC1c.1383T>G (p.Pro461=)
c.768T>G (p.Pro256=)
c.1239T>G (p.Pro413=)
c.1506T>G (p.Pro502=)
c.1464T>G (p.Pro488=)
c.1362T>G (p.Pro454=)
c.1326T>G (p.Pro442=)
c.1167T>G (p.Pro389=)
1g.173903901A>GCA32777219SERPINC1c.1383T>C (p.Pro461=)
c.768T>C (p.Pro256=)
c.1239T>C (p.Pro413=)
c.1506T>C (p.Pro502=)
c.1464T>C (p.Pro488=)
c.1362T>C (p.Pro454=)
c.1326T>C (p.Pro442=)
c.1167T>C (p.Pro389=)
dbSNP gnomAD
1g.173903901A>TCA421821179SERPINC1c.1383T>A (p.Pro461=)
c.768T>A (p.Pro256=)
c.1239T>A (p.Pro413=)
c.1506T>A (p.Pro502=)
c.1464T>A (p.Pro488=)
c.1362T>A (p.Pro454=)
c.1326T>A (p.Pro442=)
c.1167T>A (p.Pro389=)
1g.173903902G>ACA210781SERPINC1c.1382C>T (p.Pro461Leu)
c.767C>T (p.Pro256Leu)
c.1238C>T (p.Pro413Leu)
c.1505C>T (p.Pro502Leu)
c.1463C>T (p.Pro488Leu)
c.1361C>T (p.Pro454Leu)
c.1325C>T (p.Pro442Leu)
c.1166C>T (p.Pro389Leu)
ClinVar dbSNP

Number of alleles fetched