Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.173908360_173915405delCA2573051419SERPINC1c.42-486_1154-846del
c.42-486_560-867del
c.-272-219_1010-846del
c.42-486_1277-846del
c.123-486_1235-846del
c.42-486_1133-846del
c.42-486_1097-846del
c.42-486_938-846del
 ClinVar
1g.173909583A>CCA343773526SERPINC1c.1122T>G (p.Asp374Glu)
c.560-2090T>G (n.560-2090T>G)
c.978T>G (p.Asp326Glu)
c.1245T>G (p.Asp415Glu)
c.1203T>G (p.Asp401Glu)
c.1101T>G (p.Asp367Glu)
c.1065T>G (p.Asp355Glu)
c.906T>G (p.Asp302Glu)
1g.173909583A>GCA421942803SERPINC1c.1122T>C (p.Asp374=)
c.560-2090T>C (n.560-2090T>C)
c.978T>C (p.Asp326=)
c.1245T>C (p.Asp415=)
c.1203T>C (p.Asp401=)
c.1101T>C (p.Asp367=)
c.1065T>C (p.Asp355=)
c.906T>C (p.Asp302=)
1g.173909583A>TCA343773525SERPINC1c.1122T>A (p.Asp374Glu)
c.560-2090T>A (n.560-2090T>A)
c.978T>A (p.Asp326Glu)
c.1245T>A (p.Asp415Glu)
c.1203T>A (p.Asp401Glu)
c.1101T>A (p.Asp367Glu)
c.1065T>A (p.Asp355Glu)
c.906T>A (p.Asp302Glu)
1g.173909584T>ACA343773527SERPINC1c.1121A>T (p.Asp374Val)
c.560-2091A>T (n.560-2091A>T)
c.977A>T (p.Asp326Val)
c.1244A>T (p.Asp415Val)
c.1202A>T (p.Asp401Val)
c.1100A>T (p.Asp367Val)
c.1064A>T (p.Asp355Val)
c.905A>T (p.Asp302Val)
1g.173909584T>CCA343773529SERPINC1c.1121A>G (p.Asp374Gly)
c.560-2091A>G (n.560-2091A>G)
c.977A>G (p.Asp326Gly)
c.1244A>G (p.Asp415Gly)
c.1202A>G (p.Asp401Gly)
c.1100A>G (p.Asp367Gly)
c.1064A>G (p.Asp355Gly)
c.905A>G (p.Asp302Gly)
 ClinVar gnomAD v4
1g.173909584T>GCA343773528SERPINC1c.1121A>C (p.Asp374Ala)
c.560-2091A>C (n.560-2091A>C)
c.977A>C (p.Asp326Ala)
c.1244A>C (p.Asp415Ala)
c.1202A>C (p.Asp401Ala)
c.1100A>C (p.Asp367Ala)
c.1064A>C (p.Asp355Ala)
c.905A>C (p.Asp302Ala)
1g.173909585C>ACA343773530SERPINC1c.1120G>T (p.Asp374Tyr)
c.560-2092G>T (n.560-2092G>T)
c.976G>T (p.Asp326Tyr)
c.1243G>T (p.Asp415Tyr)
c.1201G>T (p.Asp401Tyr)
c.1099G>T (p.Asp367Tyr)
c.1063G>T (p.Asp355Tyr)
c.904G>T (p.Asp302Tyr)
 dbSNP gnomAD v2 gnomAD v4
1g.173909585C=CA1207936900SERPINC1c.1120G= (p.Asp374=)
c.560-2092G= (n.560-2092G=)
c.976G= (p.Asp326=)
c.1243G= (p.Asp415=)
c.1201G= (p.Asp401=)
c.1099G= (p.Asp367=)
c.1063G= (p.Asp355=)
c.904G= (p.Asp302=)
1g.173909585C>GCA343773531SERPINC1c.1120G>C (p.Asp374His)
c.560-2092G>C (n.560-2092G>C)
c.976G>C (p.Asp326His)
c.1243G>C (p.Asp415His)
c.1201G>C (p.Asp401His)
c.1099G>C (p.Asp367His)
c.1063G>C (p.Asp355His)
c.904G>C (p.Asp302His)
1g.173909585C>TCA1251279SERPINC1c.1120G>A (p.Asp374Asn)
c.560-2092G>A (n.560-2092G>A)
c.976G>A (p.Asp326Asn)
c.1243G>A (p.Asp415Asn)
c.1201G>A (p.Asp401Asn)
c.1099G>A (p.Asp367Asn)
c.1063G>A (p.Asp355Asn)
c.904G>A (p.Asp302Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.173909586G>ACA421942805SERPINC1c.1119C>T (p.Val373=)
c.560-2093C>T (n.560-2093C>T)
c.975C>T (p.Val325=)
c.1242C>T (p.Val414=)
c.1200C>T (p.Val400=)
c.1098C>T (p.Val366=)
c.1062C>T (p.Val354=)
c.903C>T (p.Val301=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.173909586G>CCA421942806SERPINC1c.1119C>G (p.Val373=)
c.560-2093C>G (n.560-2093C>G)
c.975C>G (p.Val325=)
c.1242C>G (p.Val414=)
c.1200C>G (p.Val400=)
c.1098C>G (p.Val366=)
c.1062C>G (p.Val354=)
c.903C>G (p.Val301=)
1g.173909586G=CA1207936901SERPINC1c.1119C= (p.Val373=)
c.560-2093C= (n.560-2093C=)
c.975C= (p.Val325=)
c.1242C= (p.Val414=)
c.1200C= (p.Val400=)
c.1098C= (p.Val366=)
c.1062C= (p.Val354=)
c.903C= (p.Val301=)
1g.173909586G>TCA421942807SERPINC1c.1119C>A (p.Val373=)
c.560-2093C>A (n.560-2093C>A)
c.975C>A (p.Val325=)
c.1242C>A (p.Val414=)
c.1200C>A (p.Val400=)
c.1098C>A (p.Val366=)
c.1062C>A (p.Val354=)
c.903C>A (p.Val301=)
1g.173909587A=CA1207936902SERPINC1c.1118T= (p.Val373=)
c.560-2094T= (n.560-2094T=)
c.974T= (p.Val325=)
c.1241T= (p.Val414=)
c.1199T= (p.Val400=)
c.1097T= (p.Val366=)
c.1061T= (p.Val354=)
c.902T= (p.Val301=)
1g.173909587A>CCA343773532SERPINC1c.1118T>G (p.Val373Gly)
c.560-2094T>G (n.560-2094T>G)
c.974T>G (p.Val325Gly)
c.1241T>G (p.Val414Gly)
c.1199T>G (p.Val400Gly)
c.1097T>G (p.Val366Gly)
c.1061T>G (p.Val354Gly)
c.902T>G (p.Val301Gly)
1g.173909587A>GCA343773533SERPINC1c.1118T>C (p.Val373Ala)
c.560-2094T>C (n.560-2094T>C)
c.974T>C (p.Val325Ala)
c.1241T>C (p.Val414Ala)
c.1199T>C (p.Val400Ala)
c.1097T>C (p.Val366Ala)
c.1061T>C (p.Val354Ala)
c.902T>C (p.Val301Ala)
1g.173909587A>TCA343773534SERPINC1c.1118T>A (p.Val373Asp)
c.560-2094T>A (n.560-2094T>A)
c.974T>A (p.Val325Asp)
c.1241T>A (p.Val414Asp)
c.1199T>A (p.Val400Asp)
c.1097T>A (p.Val366Asp)
c.1061T>A (p.Val354Asp)
c.902T>A (p.Val301Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.173909588C>ACA343773535SERPINC1c.1117G>T (p.Val373Phe)
c.560-2095G>T (n.560-2095G>T)
c.973G>T (p.Val325Phe)
c.1240G>T (p.Val414Phe)
c.1198G>T (p.Val400Phe)
c.1096G>T (p.Val366Phe)
c.1060G>T (p.Val354Phe)
c.901G>T (p.Val301Phe)
1g.173909588C>GCA343773536SERPINC1c.1117G>C (p.Val373Leu)
c.560-2095G>C (n.560-2095G>C)
c.973G>C (p.Val325Leu)
c.1240G>C (p.Val414Leu)
c.1198G>C (p.Val400Leu)
c.1096G>C (p.Val366Leu)
c.1060G>C (p.Val354Leu)
c.901G>C (p.Val301Leu)
1g.173909588C>TCA343773537SERPINC1c.1117G>A (p.Val373Ile)
c.560-2095G>A (n.560-2095G>A)
c.973G>A (p.Val325Ile)
c.1240G>A (p.Val414Ile)
c.1198G>A (p.Val400Ile)
c.1096G>A (p.Val366Ile)
c.1060G>A (p.Val354Ile)
c.901G>A (p.Val301Ile)
1g.173909589A>CCA421942809SERPINC1c.1116T>G (p.Leu372=)
c.560-2096T>G (n.560-2096T>G)
c.972T>G (p.Leu324=)
c.1239T>G (p.Leu413=)
c.1197T>G (p.Leu399=)
c.1095T>G (p.Leu365=)
c.1059T>G (p.Leu353=)
c.900T>G (p.Leu300=)
1g.173909589A>GCA421942810SERPINC1c.1116T>C (p.Leu372=)
c.560-2096T>C (n.560-2096T>C)
c.972T>C (p.Leu324=)
c.1239T>C (p.Leu413=)
c.1197T>C (p.Leu399=)
c.1095T>C (p.Leu365=)
c.1059T>C (p.Leu353=)
c.900T>C (p.Leu300=)
 gnomAD v4
1g.173909589A>TCA421942811SERPINC1c.1116T>A (p.Leu372=)
c.560-2096T>A (n.560-2096T>A)
c.972T>A (p.Leu324=)
c.1239T>A (p.Leu413=)
c.1197T>A (p.Leu399=)
c.1095T>A (p.Leu365=)
c.1059T>A (p.Leu353=)
c.900T>A (p.Leu300=)
1g.173909590A>CCA343773538SERPINC1c.1115T>G (p.Leu372Arg)
c.560-2097T>G (n.560-2097T>G)
c.971T>G (p.Leu324Arg)
c.1238T>G (p.Leu413Arg)
c.1196T>G (p.Leu399Arg)
c.1094T>G (p.Leu365Arg)
c.1058T>G (p.Leu353Arg)
c.899T>G (p.Leu300Arg)
1g.173909590A>GCA343773539SERPINC1c.1115T>C (p.Leu372Pro)
c.560-2097T>C (n.560-2097T>C)
c.971T>C (p.Leu324Pro)
c.1238T>C (p.Leu413Pro)
c.1196T>C (p.Leu399Pro)
c.1094T>C (p.Leu365Pro)
c.1058T>C (p.Leu353Pro)
c.899T>C (p.Leu300Pro)
1g.173909590A>TCA343773540SERPINC1c.1115T>A (p.Leu372His)
c.560-2097T>A (n.560-2097T>A)
c.971T>A (p.Leu324His)
c.1238T>A (p.Leu413His)
c.1196T>A (p.Leu399His)
c.1094T>A (p.Leu365His)
c.1058T>A (p.Leu353His)
c.899T>A (p.Leu300His)
1g.173909591G>ACA343773541SERPINC1c.1114C>T (p.Leu372Phe)
c.560-2098C>T (n.560-2098C>T)
c.970C>T (p.Leu324Phe)
c.1237C>T (p.Leu413Phe)
c.1195C>T (p.Leu399Phe)
c.1093C>T (p.Leu365Phe)
c.1057C>T (p.Leu353Phe)
c.898C>T (p.Leu300Phe)
1g.173909591G>CCA343773542SERPINC1c.1114C>G (p.Leu372Val)
c.560-2098C>G (n.560-2098C>G)
c.970C>G (p.Leu324Val)
c.1237C>G (p.Leu413Val)
c.1195C>G (p.Leu399Val)
c.1093C>G (p.Leu365Val)
c.1057C>G (p.Leu353Val)
c.898C>G (p.Leu300Val)
1g.173909591G>TCA343773543SERPINC1c.1114C>A (p.Leu372Ile)
c.560-2098C>A (n.560-2098C>A)
c.970C>A (p.Leu324Ile)
c.1237C>A (p.Leu413Ile)
c.1195C>A (p.Leu399Ile)
c.1093C>A (p.Leu365Ile)
c.1057C>A (p.Leu353Ile)
c.898C>A (p.Leu300Ile)
1g.173909592G>ACA421942815SERPINC1c.1113C>T (p.Gly371=)
c.560-2099C>T (n.560-2099C>T)
c.969C>T (p.Gly323=)
c.1236C>T (p.Gly412=)
c.1194C>T (p.Gly398=)
c.1092C>T (p.Gly364=)
c.1056C>T (p.Gly352=)
c.897C>T (p.Gly299=)
 dbSNP gnomAD v3 gnomAD v4
1g.173909592G>CCA421942816SERPINC1c.1113C>G (p.Gly371=)
c.560-2099C>G (n.560-2099C>G)
c.969C>G (p.Gly323=)
c.1236C>G (p.Gly412=)
c.1194C>G (p.Gly398=)
c.1092C>G (p.Gly364=)
c.1056C>G (p.Gly352=)
c.897C>G (p.Gly299=)
1g.173909592G=CA1207936903SERPINC1c.1113C= (p.Gly371=)
c.560-2099C= (n.560-2099C=)
c.969C= (p.Gly323=)
c.1236C= (p.Gly412=)
c.1194C= (p.Gly398=)
c.1092C= (p.Gly364=)
c.1056C= (p.Gly352=)
c.897C= (p.Gly299=)
1g.173909592G>TCA421942817SERPINC1c.1113C>A (p.Gly371=)
c.560-2099C>A (n.560-2099C>A)
c.969C>A (p.Gly323=)
c.1236C>A (p.Gly412=)
c.1194C>A (p.Gly398=)
c.1092C>A (p.Gly364=)
c.1056C>A (p.Gly352=)
c.897C>A (p.Gly299=)
 dbSNP gnomAD v3 gnomAD v4
1g.173909593C>ACA343773544SERPINC1c.1112G>T (p.Gly371Val)
c.560-2100G>T (n.560-2100G>T)
c.968G>T (p.Gly323Val)
c.1235G>T (p.Gly412Val)
c.1193G>T (p.Gly398Val)
c.1091G>T (p.Gly364Val)
c.1055G>T (p.Gly352Val)
c.896G>T (p.Gly299Val)
1g.173909593C>GCA343773546SERPINC1c.1112G>C (p.Gly371Ala)
c.560-2100G>C (n.560-2100G>C)
c.968G>C (p.Gly323Ala)
c.1235G>C (p.Gly412Ala)
c.1193G>C (p.Gly398Ala)
c.1091G>C (p.Gly364Ala)
c.1055G>C (p.Gly352Ala)
c.896G>C (p.Gly299Ala)
1g.173909593C>TCA343773545SERPINC1c.1112G>A (p.Gly371Asp)
c.560-2100G>A (n.560-2100G>A)
c.968G>A (p.Gly323Asp)
c.1235G>A (p.Gly412Asp)
c.1193G>A (p.Gly398Asp)
c.1091G>A (p.Gly364Asp)
c.1055G>A (p.Gly352Asp)
c.896G>A (p.Gly299Asp)
1g.173909594C>ACA343773547SERPINC1c.1111G>T (p.Gly371Cys)
c.560-2101G>T (n.560-2101G>T)
c.967G>T (p.Gly323Cys)
c.1234G>T (p.Gly412Cys)
c.1192G>T (p.Gly398Cys)
c.1090G>T (p.Gly364Cys)
c.1054G>T (p.Gly352Cys)
c.895G>T (p.Gly299Cys)
1g.173909594C>GCA343773548SERPINC1c.1111G>C (p.Gly371Arg)
c.560-2101G>C (n.560-2101G>C)
c.967G>C (p.Gly323Arg)
c.1234G>C (p.Gly412Arg)
c.1192G>C (p.Gly398Arg)
c.1090G>C (p.Gly364Arg)
c.1054G>C (p.Gly352Arg)
c.895G>C (p.Gly299Arg)
1g.173909594C>TCA343773549SERPINC1c.1111G>A (p.Gly371Ser)
c.560-2101G>A (n.560-2101G>A)
c.967G>A (p.Gly323Ser)
c.1234G>A (p.Gly412Ser)
c.1192G>A (p.Gly398Ser)
c.1090G>A (p.Gly364Ser)
c.1054G>A (p.Gly352Ser)
c.895G>A (p.Gly299Ser)
1g.173909595C>ACA343773550SERPINC1c.1110G>T (p.Met370Ile)
c.560-2102G>T (n.560-2102G>T)
c.966G>T (p.Met322Ile)
c.1233G>T (p.Met411Ile)
c.1191G>T (p.Met397Ile)
c.1089G>T (p.Met363Ile)
c.1053G>T (p.Met351Ile)
c.894G>T (p.Met298Ile)
1g.173909595C>GCA343773551SERPINC1c.1110G>C (p.Met370Ile)
c.560-2102G>C (n.560-2102G>C)
c.966G>C (p.Met322Ile)
c.1233G>C (p.Met411Ile)
c.1191G>C (p.Met397Ile)
c.1089G>C (p.Met363Ile)
c.1053G>C (p.Met351Ile)
c.894G>C (p.Met298Ile)
1g.173909595C>TCA343773552SERPINC1c.1110G>A (p.Met370Ile)
c.560-2102G>A (n.560-2102G>A)
c.966G>A (p.Met322Ile)
c.1233G>A (p.Met411Ile)
c.1191G>A (p.Met397Ile)
c.1089G>A (p.Met363Ile)
c.1053G>A (p.Met351Ile)
c.894G>A (p.Met298Ile)
 ClinVar
1g.173909596A>CCA343773553SERPINC1c.1109T>G (p.Met370Arg)
c.560-2103T>G (n.560-2103T>G)
c.965T>G (p.Met322Arg)
c.1232T>G (p.Met411Arg)
c.1190T>G (p.Met397Arg)
c.1088T>G (p.Met363Arg)
c.1052T>G (p.Met351Arg)
c.893T>G (p.Met298Arg)
1g.173909596A>GCA343773554SERPINC1c.1109T>C (p.Met370Thr)
c.560-2103T>C (n.560-2103T>C)
c.965T>C (p.Met322Thr)
c.1232T>C (p.Met411Thr)
c.1190T>C (p.Met397Thr)
c.1088T>C (p.Met363Thr)
c.1052T>C (p.Met351Thr)
c.893T>C (p.Met298Thr)
 ClinVar
1g.173909596A>TCA343773555SERPINC1c.1109T>A (p.Met370Lys)
c.560-2103T>A (n.560-2103T>A)
c.965T>A (p.Met322Lys)
c.1232T>A (p.Met411Lys)
c.1190T>A (p.Met397Lys)
c.1088T>A (p.Met363Lys)
c.1052T>A (p.Met351Lys)
c.893T>A (p.Met298Lys)
1g.173909597T>ACA343773557SERPINC1c.1108A>T (p.Met370Leu)
c.560-2104A>T (n.560-2104A>T)
c.964A>T (p.Met322Leu)
c.1231A>T (p.Met411Leu)
c.1189A>T (p.Met397Leu)
c.1087A>T (p.Met363Leu)
c.1051A>T (p.Met351Leu)
c.892A>T (p.Met298Leu)
1g.173909597T>CCA343773558SERPINC1c.1108A>G (p.Met370Val)
c.560-2104A>G (n.560-2104A>G)
c.964A>G (p.Met322Val)
c.1231A>G (p.Met411Val)
c.1189A>G (p.Met397Val)
c.1087A>G (p.Met363Val)
c.1051A>G (p.Met351Val)
c.892A>G (p.Met298Val)
 dbSNP gnomAD v2 gnomAD v4
1g.173909597T>GCA343773556SERPINC1c.1108A>C (p.Met370Leu)
c.560-2104A>C (n.560-2104A>C)
c.964A>C (p.Met322Leu)
c.1231A>C (p.Met411Leu)
c.1189A>C (p.Met397Leu)
c.1087A>C (p.Met363Leu)
c.1051A>C (p.Met351Leu)
c.892A>C (p.Met298Leu)

Number of alleles fetched