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.173909622_173910322delCA2573051420SERPINC1c.763-379_1084del
c.559+1543_560-2128del (n.559+1543_560-2128del)
c.619-379_940del
c.885+310_1207del
c.844-379_1165del
c.742-379_1063del
c.762+433_1027del
c.547-379_868del
 ClinVar dbSNP
1g.173909622_173909644delinsGAAGCCGTCCTCAATGCGGAAGCCA1143355583SERPINC1c.1061_1083delinsGCTTCCGCATTGAGGACGGCTTC (p.Arg354=)
c.560-2151_560-2129delinsGCTTCCGCATTGAGGACGGCTTC (n.560-2151_560-2129delinsGCTTCCGCATTGAGGACGGCTTC)
c.917_939delinsGCTTCCGCATTGAGGACGGCTTC (p.Arg306=)
c.1184_1206delinsGCTTCCGCATTGAGGACGGCTTC (p.Arg395=)
c.1142_1164delinsGCTTCCGCATTGAGGACGGCTTC (p.Arg381=)
c.1040_1062delinsGCTTCCGCATTGAGGACGGCTTC (p.Arg347=)
c.1004_1026delinsGCTTCCGCATTGAGGACGGCTTC (p.Arg335=)
c.845_867delinsGCTTCCGCATTGAGGACGGCTTC (p.Arg282=)
1g.173909627_173909644delCA32780221SERPINC1c.1066_1083del (p.Arg356_Phe361del)
c.560-2146_560-2129del (n.560-2146_560-2129del)
c.922_939del (p.Arg308_Phe313del)
c.1189_1206del (p.Arg397_Phe402del)
c.1147_1164del (p.Arg383_Phe388del)
c.1045_1062del (p.Arg349_Phe354del)
c.1009_1026del (p.Arg337_Phe342del)
c.850_867del (p.Arg284_Phe289del)
 dbSNP
1g.173909644C>ACA343773660SERPINC1c.1061G>T (p.Arg354Leu)
c.560-2151G>T (n.560-2151G>T)
c.917G>T (p.Arg306Leu)
c.1184G>T (p.Arg395Leu)
c.1142G>T (p.Arg381Leu)
c.1040G>T (p.Arg347Leu)
c.1004G>T (p.Arg335Leu)
c.845G>T (p.Arg282Leu)
1g.173909644C=CA1207936926SERPINC1c.1061G= (p.Arg354=)
c.560-2151G= (n.560-2151G=)
c.917G= (p.Arg306=)
c.1184G= (p.Arg395=)
c.1142G= (p.Arg381=)
c.1040G= (p.Arg347=)
c.1004G= (p.Arg335=)
c.845G= (p.Arg282=)
1g.173909644C>GCA343773661SERPINC1c.1061G>C (p.Arg354Pro)
c.560-2151G>C (n.560-2151G>C)
c.917G>C (p.Arg306Pro)
c.1184G>C (p.Arg395Pro)
c.1142G>C (p.Arg381Pro)
c.1040G>C (p.Arg347Pro)
c.1004G>C (p.Arg335Pro)
c.845G>C (p.Arg282Pro)
1g.173909644C>TCA1251289SERPINC1c.1061G>A (p.Arg354His)
c.560-2151G>A (n.560-2151G>A)
c.917G>A (p.Arg306His)
c.1184G>A (p.Arg395His)
c.1142G>A (p.Arg381His)
c.1040G>A (p.Arg347His)
c.1004G>A (p.Arg335His)
c.845G>A (p.Arg282His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.173909644_173909645delinsCGCA1207936927SERPINC1c.1060_1061delinsCG (p.Arg354=)
c.560-2152_560-2151delinsCG (n.560-2152_560-2151delinsCG)
c.916_917delinsCG (p.Arg306=)
c.1183_1184delinsCG (p.Arg395=)
c.1141_1142delinsCG (p.Arg381=)
c.1039_1040delinsCG (p.Arg347=)
c.1003_1004delinsCG (p.Arg335=)
c.844_845delinsCG (p.Arg282=)
1g.173909645G>ACA343773662SERPINC1c.1060C>T (p.Arg354Cys)
c.560-2152C>T (n.560-2152C>T)
c.916C>T (p.Arg306Cys)
c.1183C>T (p.Arg395Cys)
c.1141C>T (p.Arg381Cys)
c.1039C>T (p.Arg347Cys)
c.1003C>T (p.Arg335Cys)
c.844C>T (p.Arg282Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.173909645G>CCA343773663SERPINC1c.1060C>G (p.Arg354Gly)
c.560-2152C>G (n.560-2152C>G)
c.916C>G (p.Arg306Gly)
c.1183C>G (p.Arg395Gly)
c.1141C>G (p.Arg381Gly)
c.1039C>G (p.Arg347Gly)
c.1003C>G (p.Arg335Gly)
c.844C>G (p.Arg282Gly)
1g.173909645G=CA1207936928SERPINC1c.1060C= (p.Arg354=)
c.560-2152C= (n.560-2152C=)
c.916C= (p.Arg306=)
c.1183C= (p.Arg395=)
c.1141C= (p.Arg381=)
c.1039C= (p.Arg347=)
c.1003C= (p.Arg335=)
c.844C= (p.Arg282=)
1g.173909645G>TCA1251290SERPINC1c.1060C>A (p.Arg354Ser)
c.560-2152C>A (n.560-2152C>A)
c.916C>A (p.Arg306Ser)
c.1183C>A (p.Arg395Ser)
c.1141C>A (p.Arg381Ser)
c.1039C>A (p.Arg347Ser)
c.1003C>A (p.Arg335Ser)
c.844C>A (p.Arg282Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.173909648delCA337494SERPINC1c.1060del (p.Arg354AlafsTer10)
c.560-2152del (n.560-2152del)
c.916del (p.Arg306AlafsTer10)
c.1183del (p.Arg395AlafsTer10)
c.1141del (p.Arg381AlafsTer10)
c.1039del (p.Arg347AlafsTer10)
c.1003del (p.Arg335AlafsTer10)
c.844del (p.Arg282AlafsTer10)
 ClinVar dbSNP
1g.173909645_173909646insCTCTTAATATCTGTCTCTTTGCTCTGAATTCCAATCA2511400248SERPINC1c.1059_1060insATTGGAATTCAGAGCAAAGAGACAGATATTAAGAG (p.Arg354IlefsTer22)
c.560-2153_560-2152insATTGGAATTCAGAGCAAAGAGACAGATATTAAGAG (n.560-2153_560-2152insATTGGAATTCAGAGCAAAGAGACAGATATTAAGAG)
c.915_916insATTGGAATTCAGAGCAAAGAGACAGATATTAAGAG (p.Arg306IlefsTer22)
c.1182_1183insATTGGAATTCAGAGCAAAGAGACAGATATTAAGAG (p.Arg395IlefsTer22)
c.1140_1141insATTGGAATTCAGAGCAAAGAGACAGATATTAAGAG (p.Arg381IlefsTer22)
c.1038_1039insATTGGAATTCAGAGCAAAGAGACAGATATTAAGAG (p.Arg347IlefsTer22)
c.1002_1003insATTGGAATTCAGAGCAAAGAGACAGATATTAAGAG (p.Arg335IlefsTer22)
c.843_844insATTGGAATTCAGAGCAAAGAGACAGATATTAAGAG (p.Arg282IlefsTer22)
1g.173909646G>ACA421942873SERPINC1c.1059C>T (p.Pro353=)
c.560-2153C>T (n.560-2153C>T)
c.915C>T (p.Pro305=)
c.1182C>T (p.Pro394=)
c.1140C>T (p.Pro380=)
c.1038C>T (p.Pro346=)
c.1002C>T (p.Pro334=)
c.843C>T (p.Pro281=)
1g.173909646G>CCA421942874SERPINC1c.1059C>G (p.Pro353=)
c.560-2153C>G (n.560-2153C>G)
c.915C>G (p.Pro305=)
c.1182C>G (p.Pro394=)
c.1140C>G (p.Pro380=)
c.1038C>G (p.Pro346=)
c.1002C>G (p.Pro334=)
c.843C>G (p.Pro281=)
1g.173909646G=CA1207936929SERPINC1c.1059C= (p.Pro353=)
c.560-2153C= (n.560-2153C=)
c.915C= (p.Pro305=)
c.1182C= (p.Pro394=)
c.1140C= (p.Pro380=)
c.1038C= (p.Pro346=)
c.1002C= (p.Pro334=)
c.843C= (p.Pro281=)
1g.173909646G>TCA1251291SERPINC1c.1059C>A (p.Pro353=)
c.560-2153C>A (n.560-2153C>A)
c.915C>A (p.Pro305=)
c.1182C>A (p.Pro394=)
c.1140C>A (p.Pro380=)
c.1038C>A (p.Pro346=)
c.1002C>A (p.Pro334=)
c.843C>A (p.Pro281=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.173909647G>ACA343773664SERPINC1c.1058C>T (p.Pro353Leu)
c.560-2154C>T (n.560-2154C>T)
c.914C>T (p.Pro305Leu)
c.1181C>T (p.Pro394Leu)
c.1139C>T (p.Pro380Leu)
c.1037C>T (p.Pro346Leu)
c.1001C>T (p.Pro334Leu)
c.842C>T (p.Pro281Leu)
 ClinVar
1g.173909647G>CCA343773665SERPINC1c.1058C>G (p.Pro353Arg)
c.560-2154C>G (n.560-2154C>G)
c.914C>G (p.Pro305Arg)
c.1181C>G (p.Pro394Arg)
c.1139C>G (p.Pro380Arg)
c.1037C>G (p.Pro346Arg)
c.1001C>G (p.Pro334Arg)
c.842C>G (p.Pro281Arg)
1g.173909647G>TCA343773666SERPINC1c.1058C>A (p.Pro353His)
c.560-2154C>A (n.560-2154C>A)
c.914C>A (p.Pro305His)
c.1181C>A (p.Pro394His)
c.1139C>A (p.Pro380His)
c.1037C>A (p.Pro346His)
c.1001C>A (p.Pro334His)
c.842C>A (p.Pro281His)
1g.173909648G>ACA343773667SERPINC1c.1057C>T (p.Pro353Ser)
c.560-2155C>T (n.560-2155C>T)
c.913C>T (p.Pro305Ser)
c.1180C>T (p.Pro394Ser)
c.1138C>T (p.Pro380Ser)
c.1036C>T (p.Pro346Ser)
c.1000C>T (p.Pro334Ser)
c.841C>T (p.Pro281Ser)
 ClinVar dbSNP gnomAD v4
1g.173909648G>CCA343773668SERPINC1c.1057C>G (p.Pro353Ala)
c.560-2155C>G (n.560-2155C>G)
c.913C>G (p.Pro305Ala)
c.1180C>G (p.Pro394Ala)
c.1138C>G (p.Pro380Ala)
c.1036C>G (p.Pro346Ala)
c.1000C>G (p.Pro334Ala)
c.841C>G (p.Pro281Ala)
1g.173909648G>TCA343773669SERPINC1c.1057C>A (p.Pro353Thr)
c.560-2155C>A (n.560-2155C>A)
c.913C>A (p.Pro305Thr)
c.1180C>A (p.Pro394Thr)
c.1138C>A (p.Pro380Thr)
c.1036C>A (p.Pro346Thr)
c.1000C>A (p.Pro334Thr)
c.841C>A (p.Pro281Thr)
1g.173909649delCA915940634SERPINC1c.1056del (p.Met352IlefsTer12)
c.560-2156del (n.560-2156del)
c.912del (p.Met304IlefsTer12)
c.1179del (p.Met393IlefsTer12)
c.1137del (p.Met379IlefsTer12)
c.1035del (p.Met345IlefsTer12)
c.999del (p.Met333IlefsTer12)
c.840del (p.Met280IlefsTer12)
1g.173909649C>ACA343773671SERPINC1c.1056G>T (p.Met352Ile)
c.560-2156G>T (n.560-2156G>T)
c.912G>T (p.Met304Ile)
c.1179G>T (p.Met393Ile)
c.1137G>T (p.Met379Ile)
c.1035G>T (p.Met345Ile)
c.999G>T (p.Met333Ile)
c.840G>T (p.Met280Ile)
1g.173909649C>GCA343773672SERPINC1c.1056G>C (p.Met352Ile)
c.560-2156G>C (n.560-2156G>C)
c.912G>C (p.Met304Ile)
c.1179G>C (p.Met393Ile)
c.1137G>C (p.Met379Ile)
c.1035G>C (p.Met345Ile)
c.999G>C (p.Met333Ile)
c.840G>C (p.Met280Ile)
1g.173909649C>TCA343773670SERPINC1c.1056G>A (p.Met352Ile)
c.560-2156G>A (n.560-2156G>A)
c.912G>A (p.Met304Ile)
c.1179G>A (p.Met393Ile)
c.1137G>A (p.Met379Ile)
c.1035G>A (p.Met345Ile)
c.999G>A (p.Met333Ile)
c.840G>A (p.Met280Ile)
 gnomAD v4
1g.173909650A>CCA343773673SERPINC1c.1055T>G (p.Met352Arg)
c.560-2157T>G (n.560-2157T>G)
c.911T>G (p.Met304Arg)
c.1178T>G (p.Met393Arg)
c.1136T>G (p.Met379Arg)
c.1034T>G (p.Met345Arg)
c.998T>G (p.Met333Arg)
c.839T>G (p.Met280Arg)
1g.173909650A>GCA343773674SERPINC1c.1055T>C (p.Met352Thr)
c.560-2157T>C (n.560-2157T>C)
c.911T>C (p.Met304Thr)
c.1178T>C (p.Met393Thr)
c.1136T>C (p.Met379Thr)
c.1034T>C (p.Met345Thr)
c.998T>C (p.Met333Thr)
c.839T>C (p.Met280Thr)
 gnomAD v4
1g.173909650A>TCA343773675SERPINC1c.1055T>A (p.Met352Lys)
c.560-2157T>A (n.560-2157T>A)
c.911T>A (p.Met304Lys)
c.1178T>A (p.Met393Lys)
c.1136T>A (p.Met379Lys)
c.1034T>A (p.Met345Lys)
c.998T>A (p.Met333Lys)
c.839T>A (p.Met280Lys)
 gnomAD v4
1g.173909651T>ACA343773676SERPINC1c.1054A>T (p.Met352Leu)
c.560-2158A>T (n.560-2158A>T)
c.910A>T (p.Met304Leu)
c.1177A>T (p.Met393Leu)
c.1135A>T (p.Met379Leu)
c.1033A>T (p.Met345Leu)
c.997A>T (p.Met333Leu)
c.838A>T (p.Met280Leu)
1g.173909651T>CCA10608814SERPINC1c.1054A>G (p.Met352Val)
c.560-2158A>G (n.560-2158A>G)
c.910A>G (p.Met304Val)
c.1177A>G (p.Met393Val)
c.1135A>G (p.Met379Val)
c.1033A>G (p.Met345Val)
c.997A>G (p.Met333Val)
c.838A>G (p.Met280Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.173909651T>GCA343773684SERPINC1c.1054A>C (p.Met352Leu)
c.560-2158A>C (n.560-2158A>C)
c.910A>C (p.Met304Leu)
c.1177A>C (p.Met393Leu)
c.1135A>C (p.Met379Leu)
c.1033A>C (p.Met345Leu)
c.997A>C (p.Met333Leu)
c.838A>C (p.Met280Leu)
1g.173909651T=CA1207936930SERPINC1c.1054A= (p.Met352=)
c.560-2158A= (n.560-2158A=)
c.910A= (p.Met304=)
c.1177A= (p.Met393=)
c.1135A= (p.Met379=)
c.1033A= (p.Met345=)
c.997A= (p.Met333=)
c.838A= (p.Met280=)
1g.173909652G>ACA421942878SERPINC1c.1053C>T (p.His351=)
c.560-2159C>T (n.560-2159C>T)
c.909C>T (p.His303=)
c.1176C>T (p.His392=)
c.1134C>T (p.His378=)
c.1032C>T (p.His344=)
c.996C>T (p.His332=)
c.837C>T (p.His279=)
 dbSNP
1g.173909652G>CCA343773687SERPINC1c.1053C>G (p.His351Gln)
c.560-2159C>G (n.560-2159C>G)
c.909C>G (p.His303Gln)
c.1176C>G (p.His392Gln)
c.1134C>G (p.His378Gln)
c.1032C>G (p.His344Gln)
c.996C>G (p.His332Gln)
c.837C>G (p.His279Gln)
1g.173909652G=CA1207936931SERPINC1c.1053C= (p.His351=)
c.560-2159C= (n.560-2159C=)
c.909C= (p.His303=)
c.1176C= (p.His392=)
c.1134C= (p.His378=)
c.1032C= (p.His344=)
c.996C= (p.His332=)
c.837C= (p.His279=)
1g.173909652G>TCA343773689SERPINC1c.1053C>A (p.His351Gln)
c.560-2159C>A (n.560-2159C>A)
c.909C>A (p.His303Gln)
c.1176C>A (p.His392Gln)
c.1134C>A (p.His378Gln)
c.1032C>A (p.His344Gln)
c.996C>A (p.His332Gln)
c.837C>A (p.His279Gln)
1g.173909653T>ACA343773691SERPINC1c.1052A>T (p.His351Leu)
c.560-2160A>T (n.560-2160A>T)
c.908A>T (p.His303Leu)
c.1175A>T (p.His392Leu)
c.1133A>T (p.His378Leu)
c.1031A>T (p.His344Leu)
c.995A>T (p.His332Leu)
c.836A>T (p.His279Leu)
 gnomAD v4
1g.173909653T>CCA343773692SERPINC1c.1052A>G (p.His351Arg)
c.560-2160A>G (n.560-2160A>G)
c.908A>G (p.His303Arg)
c.1175A>G (p.His392Arg)
c.1133A>G (p.His378Arg)
c.1031A>G (p.His344Arg)
c.995A>G (p.His332Arg)
c.836A>G (p.His279Arg)
1g.173909653T>GCA343773693SERPINC1c.1052A>C (p.His351Pro)
c.560-2160A>C (n.560-2160A>C)
c.908A>C (p.His303Pro)
c.1175A>C (p.His392Pro)
c.1133A>C (p.His378Pro)
c.1031A>C (p.His344Pro)
c.995A>C (p.His332Pro)
c.836A>C (p.His279Pro)
1g.173909654G>ACA32780255SERPINC1c.1051C>T (p.His351Tyr)
c.560-2161C>T (n.560-2161C>T)
c.907C>T (p.His303Tyr)
c.1174C>T (p.His392Tyr)
c.1132C>T (p.His378Tyr)
c.1030C>T (p.His344Tyr)
c.994C>T (p.His332Tyr)
c.835C>T (p.His279Tyr)
 ClinVar dbSNP gnomAD v4
1g.173909654G>CCA343773697SERPINC1c.1051C>G (p.His351Asp)
c.560-2161C>G (n.560-2161C>G)
c.907C>G (p.His303Asp)
c.1174C>G (p.His392Asp)
c.1132C>G (p.His378Asp)
c.1030C>G (p.His344Asp)
c.994C>G (p.His332Asp)
c.835C>G (p.His279Asp)
1g.173909654G=CA1207936932SERPINC1c.1051C= (p.His351=)
c.560-2161C= (n.560-2161C=)
c.907C= (p.His303=)
c.1174C= (p.His392=)
c.1132C= (p.His378=)
c.1030C= (p.His344=)
c.994C= (p.His332=)
c.835C= (p.His279=)
1g.173909654G>TCA343773698SERPINC1c.1051C>A (p.His351Asn)
c.560-2161C>A (n.560-2161C>A)
c.907C>A (p.His303Asn)
c.1174C>A (p.His392Asn)
c.1132C>A (p.His378Asn)
c.1030C>A (p.His344Asn)
c.994C>A (p.His332Asn)
c.835C>A (p.His279Asn)
1g.173909655G>ACA32780259SERPINC1c.1050C>T (p.Val350=)
c.560-2162C>T (n.560-2162C>T)
c.906C>T (p.Val302=)
c.1173C>T (p.Val391=)
c.1131C>T (p.Val377=)
c.1029C>T (p.Val343=)
c.993C>T (p.Val331=)
c.834C>T (p.Val278=)
 dbSNP
1g.173909655G>CCA421942881SERPINC1c.1050C>G (p.Val350=)
c.560-2162C>G (n.560-2162C>G)
c.906C>G (p.Val302=)
c.1173C>G (p.Val391=)
c.1131C>G (p.Val377=)
c.1029C>G (p.Val343=)
c.993C>G (p.Val331=)
c.834C>G (p.Val278=)
1g.173909655G=CA1207936933SERPINC1c.1050C= (p.Val350=)
c.560-2162C= (n.560-2162C=)
c.906C= (p.Val302=)
c.1173C= (p.Val391=)
c.1131C= (p.Val377=)
c.1029C= (p.Val343=)
c.993C= (p.Val331=)
c.834C= (p.Val278=)
1g.173909655G>TCA421942882SERPINC1c.1050C>A (p.Val350=)
c.560-2162C>A (n.560-2162C>A)
c.906C>A (p.Val302=)
c.1173C>A (p.Val391=)
c.1131C>A (p.Val377=)
c.1029C>A (p.Val343=)
c.993C>A (p.Val331=)
c.834C>A (p.Val278=)
1g.173909656A>CCA343773702SERPINC1c.1049T>G (p.Val350Gly)
c.560-2163T>G (n.560-2163T>G)
c.905T>G (p.Val302Gly)
c.1172T>G (p.Val391Gly)
c.1130T>G (p.Val377Gly)
c.1028T>G (p.Val343Gly)
c.992T>G (p.Val331Gly)
c.833T>G (p.Val278Gly)
1g.173909656A>GCA343773704SERPINC1c.1049T>C (p.Val350Ala)
c.560-2163T>C (n.560-2163T>C)
c.905T>C (p.Val302Ala)
c.1172T>C (p.Val391Ala)
c.1130T>C (p.Val377Ala)
c.1028T>C (p.Val343Ala)
c.992T>C (p.Val331Ala)
c.833T>C (p.Val278Ala)
1g.173909656A>TCA343773706SERPINC1c.1049T>A (p.Val350Asp)
c.560-2163T>A (n.560-2163T>A)
c.905T>A (p.Val302Asp)
c.1172T>A (p.Val391Asp)
c.1130T>A (p.Val377Asp)
c.1028T>A (p.Val343Asp)
c.992T>A (p.Val331Asp)
c.833T>A (p.Val278Asp)
1g.173909657C>ACA343773707SERPINC1c.1048G>T (p.Val350Phe)
c.560-2164G>T (n.560-2164G>T)
c.904G>T (p.Val302Phe)
c.1171G>T (p.Val391Phe)
c.1129G>T (p.Val377Phe)
c.1027G>T (p.Val343Phe)
c.991G>T (p.Val331Phe)
c.832G>T (p.Val278Phe)
1g.173909657C>GCA343773710SERPINC1c.1048G>C (p.Val350Leu)
c.560-2164G>C (n.560-2164G>C)
c.904G>C (p.Val302Leu)
c.1171G>C (p.Val391Leu)
c.1129G>C (p.Val377Leu)
c.1027G>C (p.Val343Leu)
c.991G>C (p.Val331Leu)
c.832G>C (p.Val278Leu)
1g.173909657C>TCA343773712SERPINC1c.1048G>A (p.Val350Ile)
c.560-2164G>A (n.560-2164G>A)
c.904G>A (p.Val302Ile)
c.1171G>A (p.Val391Ile)
c.1129G>A (p.Val377Ile)
c.1027G>A (p.Val343Ile)
c.991G>A (p.Val331Ile)
c.832G>A (p.Val278Ile)
1g.173909658C>ACA421942886SERPINC1c.1047G>T (p.Val349=)
c.560-2165G>T (n.560-2165G>T)
c.903G>T (p.Val301=)
c.1170G>T (p.Val390=)
c.1128G>T (p.Val376=)
c.1026G>T (p.Val342=)
c.990G>T (p.Val330=)
c.831G>T (p.Val277=)
1g.173909658C>GCA421942885SERPINC1c.1047G>C (p.Val349=)
c.560-2165G>C (n.560-2165G>C)
c.903G>C (p.Val301=)
c.1170G>C (p.Val390=)
c.1128G>C (p.Val376=)
c.1026G>C (p.Val342=)
c.990G>C (p.Val330=)
c.831G>C (p.Val277=)
1g.173909658C>TCA421942884SERPINC1c.1047G>A (p.Val349=)
c.560-2165G>A (n.560-2165G>A)
c.903G>A (p.Val301=)
c.1170G>A (p.Val390=)
c.1128G>A (p.Val376=)
c.1026G>A (p.Val342=)
c.990G>A (p.Val330=)
c.831G>A (p.Val277=)
1g.173909659A>CCA343773714SERPINC1c.1046T>G (p.Val349Gly)
c.560-2166T>G (n.560-2166T>G)
c.902T>G (p.Val301Gly)
c.1169T>G (p.Val390Gly)
c.1127T>G (p.Val376Gly)
c.1025T>G (p.Val342Gly)
c.989T>G (p.Val330Gly)
c.830T>G (p.Val277Gly)
 gnomAD v4
1g.173909659A>GCA343773716SERPINC1c.1046T>C (p.Val349Ala)
c.560-2166T>C (n.560-2166T>C)
c.902T>C (p.Val301Ala)
c.1169T>C (p.Val390Ala)
c.1127T>C (p.Val376Ala)
c.1025T>C (p.Val342Ala)
c.989T>C (p.Val330Ala)
c.830T>C (p.Val277Ala)
1g.173909659A>TCA343773718SERPINC1c.1046T>A (p.Val349Glu)
c.560-2166T>A (n.560-2166T>A)
c.902T>A (p.Val301Glu)
c.1169T>A (p.Val390Glu)
c.1127T>A (p.Val376Glu)
c.1025T>A (p.Val342Glu)
c.989T>A (p.Val330Glu)
c.830T>A (p.Val277Glu)
1g.173909660C>ACA343773720SERPINC1c.1045G>T (p.Val349Leu)
c.560-2167G>T (n.560-2167G>T)
c.901G>T (p.Val301Leu)
c.1168G>T (p.Val390Leu)
c.1126G>T (p.Val376Leu)
c.1024G>T (p.Val342Leu)
c.988G>T (p.Val330Leu)
c.829G>T (p.Val277Leu)
1g.173909660C=CA1207936934SERPINC1c.1045G= (p.Val349=)
c.560-2167G= (n.560-2167G=)
c.901G= (p.Val301=)
c.1168G= (p.Val390=)
c.1126G= (p.Val376=)
c.1024G= (p.Val342=)
c.988G= (p.Val330=)
c.829G= (p.Val277=)
1g.173909660C>GCA343773721SERPINC1c.1045G>C (p.Val349Leu)
c.560-2167G>C (n.560-2167G>C)
c.901G>C (p.Val301Leu)
c.1168G>C (p.Val390Leu)
c.1126G>C (p.Val376Leu)
c.1024G>C (p.Val342Leu)
c.988G>C (p.Val330Leu)
c.829G>C (p.Val277Leu)
 dbSNP gnomAD v3 gnomAD v4
1g.173909660C>TCA343773723SERPINC1c.1045G>A (p.Val349Met)
c.560-2167G>A (n.560-2167G>A)
c.901G>A (p.Val301Met)
c.1168G>A (p.Val390Met)
c.1126G>A (p.Val376Met)
c.1024G>A (p.Val342Met)
c.988G>A (p.Val330Met)
c.829G>A (p.Val277Met)
 gnomAD v4
1g.173909661C>ACA421942891SERPINC1c.1044G>T (p.Leu348=)
c.560-2168G>T (n.560-2168G>T)
c.900G>T (p.Leu300=)
c.1167G>T (p.Leu389=)
c.1125G>T (p.Leu375=)
c.1023G>T (p.Leu341=)
c.987G>T (p.Leu329=)
c.828G>T (p.Leu276=)
 dbSNP gnomAD v4
1g.173909661C=CA1207936935SERPINC1c.1044G= (p.Leu348=)
c.560-2168G= (n.560-2168G=)
c.900G= (p.Leu300=)
c.1167G= (p.Leu389=)
c.1125G= (p.Leu375=)
c.1023G= (p.Leu341=)
c.987G= (p.Leu329=)
c.828G= (p.Leu276=)
1g.173909661C>GCA421942890SERPINC1c.1044G>C (p.Leu348=)
c.560-2168G>C (n.560-2168G>C)
c.900G>C (p.Leu300=)
c.1167G>C (p.Leu389=)
c.1125G>C (p.Leu375=)
c.1023G>C (p.Leu341=)
c.987G>C (p.Leu329=)
c.828G>C (p.Leu276=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.173909661C>TCA421942889SERPINC1c.1044G>A (p.Leu348=)
c.560-2168G>A (n.560-2168G>A)
c.900G>A (p.Leu300=)
c.1167G>A (p.Leu389=)
c.1125G>A (p.Leu375=)
c.1023G>A (p.Leu341=)
c.987G>A (p.Leu329=)
c.828G>A (p.Leu276=)
1g.173909662A>CCA343773724SERPINC1c.1043T>G (p.Leu348Arg)
c.560-2169T>G (n.560-2169T>G)
c.899T>G (p.Leu300Arg)
c.1166T>G (p.Leu389Arg)
c.1124T>G (p.Leu375Arg)
c.1022T>G (p.Leu341Arg)
c.986T>G (p.Leu329Arg)
c.827T>G (p.Leu276Arg)
1g.173909662A>GCA343773728SERPINC1c.1043T>C (p.Leu348Pro)
c.560-2169T>C (n.560-2169T>C)
c.899T>C (p.Leu300Pro)
c.1166T>C (p.Leu389Pro)
c.1124T>C (p.Leu375Pro)
c.1022T>C (p.Leu341Pro)
c.986T>C (p.Leu329Pro)
c.827T>C (p.Leu276Pro)
1g.173909662A>TCA343773726SERPINC1c.1043T>A (p.Leu348Gln)
c.560-2169T>A (n.560-2169T>A)
c.899T>A (p.Leu300Gln)
c.1166T>A (p.Leu389Gln)
c.1124T>A (p.Leu375Gln)
c.1022T>A (p.Leu341Gln)
c.986T>A (p.Leu329Gln)
c.827T>A (p.Leu276Gln)
1g.173909663G>ACA421942895SERPINC1c.1042C>T (p.Leu348=)
c.560-2170C>T (n.560-2170C>T)
c.898C>T (p.Leu300=)
c.1165C>T (p.Leu389=)
c.1123C>T (p.Leu375=)
c.1021C>T (p.Leu341=)
c.985C>T (p.Leu329=)
c.826C>T (p.Leu276=)
 dbSNP
1g.173909663G>CCA343773730SERPINC1c.1042C>G (p.Leu348Val)
c.560-2170C>G (n.560-2170C>G)
c.898C>G (p.Leu300Val)
c.1165C>G (p.Leu389Val)
c.1123C>G (p.Leu375Val)
c.1021C>G (p.Leu341Val)
c.985C>G (p.Leu329Val)
c.826C>G (p.Leu276Val)
1g.173909663G=CA1207936936SERPINC1c.1042C= (p.Leu348=)
c.560-2170C= (n.560-2170C=)
c.898C= (p.Leu300=)
c.1165C= (p.Leu389=)
c.1123C= (p.Leu375=)
c.1021C= (p.Leu341=)
c.985C= (p.Leu329=)
c.826C= (p.Leu276=)
1g.173909663G>TCA343773732SERPINC1c.1042C>A (p.Leu348Met)
c.560-2170C>A (n.560-2170C>A)
c.898C>A (p.Leu300Met)
c.1165C>A (p.Leu389Met)
c.1123C>A (p.Leu375Met)
c.1021C>A (p.Leu341Met)
c.985C>A (p.Leu329Met)
c.826C>A (p.Leu276Met)
1g.173909664C>ACA343773733SERPINC1c.1041G>T (p.Met347Ile)
c.560-2171G>T (n.560-2171G>T)
c.897G>T (p.Met299Ile)
c.1164G>T (p.Met388Ile)
c.1122G>T (p.Met374Ile)
c.1020G>T (p.Met340Ile)
c.984G>T (p.Met328Ile)
c.825G>T (p.Met275Ile)
 dbSNP gnomAD v3 gnomAD v4
1g.173909664C=CA1207936937SERPINC1c.1041G= (p.Met347=)
c.560-2171G= (n.560-2171G=)
c.897G= (p.Met299=)
c.1164G= (p.Met388=)
c.1122G= (p.Met374=)
c.1020G= (p.Met340=)
c.984G= (p.Met328=)
c.825G= (p.Met275=)
1g.173909664C>GCA343773735SERPINC1c.1041G>C (p.Met347Ile)
c.560-2171G>C (n.560-2171G>C)
c.897G>C (p.Met299Ile)
c.1164G>C (p.Met388Ile)
c.1122G>C (p.Met374Ile)
c.1020G>C (p.Met340Ile)
c.984G>C (p.Met328Ile)
c.825G>C (p.Met275Ile)
1g.173909664C>TCA343773738SERPINC1c.1041G>A (p.Met347Ile)
c.560-2171G>A (n.560-2171G>A)
c.897G>A (p.Met299Ile)
c.1164G>A (p.Met388Ile)
c.1122G>A (p.Met374Ile)
c.1020G>A (p.Met340Ile)
c.984G>A (p.Met328Ile)
c.825G>A (p.Met275Ile)
1g.173909665A>CCA343773739SERPINC1c.1040T>G (p.Met347Arg)
c.560-2172T>G (n.560-2172T>G)
c.896T>G (p.Met299Arg)
c.1163T>G (p.Met388Arg)
c.1121T>G (p.Met374Arg)
c.1019T>G (p.Met340Arg)
c.983T>G (p.Met328Arg)
c.824T>G (p.Met275Arg)
1g.173909665A>GCA343773741SERPINC1c.1040T>C (p.Met347Thr)
c.560-2172T>C (n.560-2172T>C)
c.896T>C (p.Met299Thr)
c.1163T>C (p.Met388Thr)
c.1121T>C (p.Met374Thr)
c.1019T>C (p.Met340Thr)
c.983T>C (p.Met328Thr)
c.824T>C (p.Met275Thr)
1g.173909665A>TCA343773743SERPINC1c.1040T>A (p.Met347Lys)
c.560-2172T>A (n.560-2172T>A)
c.896T>A (p.Met299Lys)
c.1163T>A (p.Met388Lys)
c.1121T>A (p.Met374Lys)
c.1019T>A (p.Met340Lys)
c.983T>A (p.Met328Lys)
c.824T>A (p.Met275Lys)
 gnomAD v4
1g.173909666T>ACA343773745SERPINC1c.1039A>T (p.Met347Leu)
c.560-2173A>T (n.560-2173A>T)
c.895A>T (p.Met299Leu)
c.1162A>T (p.Met388Leu)
c.1120A>T (p.Met374Leu)
c.1018A>T (p.Met340Leu)
c.982A>T (p.Met328Leu)
c.823A>T (p.Met275Leu)
 dbSNP gnomAD v2 gnomAD v4
1g.173909666T>CCA343773747SERPINC1c.1039A>G (p.Met347Val)
c.560-2173A>G (n.560-2173A>G)
c.895A>G (p.Met299Val)
c.1162A>G (p.Met388Val)
c.1120A>G (p.Met374Val)
c.1018A>G (p.Met340Val)
c.982A>G (p.Met328Val)
c.823A>G (p.Met275Val)
1g.173909666T>GCA343773749SERPINC1c.1039A>C (p.Met347Leu)
c.560-2173A>C (n.560-2173A>C)
c.895A>C (p.Met299Leu)
c.1162A>C (p.Met388Leu)
c.1120A>C (p.Met374Leu)
c.1018A>C (p.Met340Leu)
c.982A>C (p.Met328Leu)
c.823A>C (p.Met275Leu)
 gnomAD v4
1g.173909666T=CA1207936938SERPINC1c.1039A= (p.Met347=)
c.560-2173A= (n.560-2173A=)
c.895A= (p.Met299=)
c.1162A= (p.Met388=)
c.1120A= (p.Met374=)
c.1018A= (p.Met340=)
c.982A= (p.Met328=)
c.823A= (p.Met275=)
1g.173909667C>ACA343773752SERPINC1c.1038G>T (p.Met346Ile)
c.560-2174G>T (n.560-2174G>T)
c.894G>T (p.Met298Ile)
c.1161G>T (p.Met387Ile)
c.1119G>T (p.Met373Ile)
c.1017G>T (p.Met339Ile)
c.981G>T (p.Met327Ile)
c.822G>T (p.Met274Ile)
 dbSNP
1g.173909667C=CA1207936939SERPINC1c.1038G= (p.Met346=)
c.560-2174G= (n.560-2174G=)
c.894G= (p.Met298=)
c.1161G= (p.Met387=)
c.1119G= (p.Met373=)
c.1017G= (p.Met339=)
c.981G= (p.Met327=)
c.822G= (p.Met274=)
1g.173909667C>GCA343773753SERPINC1c.1038G>C (p.Met346Ile)
c.560-2174G>C (n.560-2174G>C)
c.894G>C (p.Met298Ile)
c.1161G>C (p.Met387Ile)
c.1119G>C (p.Met373Ile)
c.1017G>C (p.Met339Ile)
c.981G>C (p.Met327Ile)
c.822G>C (p.Met274Ile)
1g.173909667C>TCA32780266SERPINC1c.1038G>A (p.Met346Ile)
c.560-2174G>A (n.560-2174G>A)
c.894G>A (p.Met298Ile)
c.1161G>A (p.Met387Ile)
c.1119G>A (p.Met373Ile)
c.1017G>A (p.Met339Ile)
c.981G>A (p.Met327Ile)
c.822G>A (p.Met274Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.173909668A=CA1207936940SERPINC1c.1037T= (p.Met346=)
c.560-2175T= (n.560-2175T=)
c.893T= (p.Met298=)
c.1160T= (p.Met387=)
c.1118T= (p.Met373=)
c.1016T= (p.Met339=)
c.980T= (p.Met327=)
c.821T= (p.Met274=)
1g.173909668A>CCA343773760SERPINC1c.1037T>G (p.Met346Arg)
c.560-2175T>G (n.560-2175T>G)
c.893T>G (p.Met298Arg)
c.1160T>G (p.Met387Arg)
c.1118T>G (p.Met373Arg)
c.1016T>G (p.Met339Arg)
c.980T>G (p.Met327Arg)
c.821T>G (p.Met274Arg)
1g.173909668A>GCA1251292SERPINC1c.1037T>C (p.Met346Thr)
c.560-2175T>C (n.560-2175T>C)
c.893T>C (p.Met298Thr)
c.1160T>C (p.Met387Thr)
c.1118T>C (p.Met373Thr)
c.1016T>C (p.Met339Thr)
c.980T>C (p.Met327Thr)
c.821T>C (p.Met274Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.173909668A>TCA343773757SERPINC1c.1037T>A (p.Met346Lys)
c.560-2175T>A (n.560-2175T>A)
c.893T>A (p.Met298Lys)
c.1160T>A (p.Met387Lys)
c.1118T>A (p.Met373Lys)
c.1016T>A (p.Met339Lys)
c.980T>A (p.Met327Lys)
c.821T>A (p.Met274Lys)
1g.173909669T>ACA343773762SERPINC1c.1036A>T (p.Met346Leu)
c.560-2176A>T (n.560-2176A>T)
c.892A>T (p.Met298Leu)
c.1159A>T (p.Met387Leu)
c.1117A>T (p.Met373Leu)
c.1015A>T (p.Met339Leu)
c.979A>T (p.Met327Leu)
c.820A>T (p.Met274Leu)
1g.173909669T>CCA343773764SERPINC1c.1036A>G (p.Met346Val)
c.560-2176A>G (n.560-2176A>G)
c.892A>G (p.Met298Val)
c.1159A>G (p.Met387Val)
c.1117A>G (p.Met373Val)
c.1015A>G (p.Met339Val)
c.979A>G (p.Met327Val)
c.820A>G (p.Met274Val)
1g.173909669T>GCA343773766SERPINC1c.1036A>C (p.Met346Leu)
c.560-2176A>C (n.560-2176A>C)
c.892A>C (p.Met298Leu)
c.1159A>C (p.Met387Leu)
c.1117A>C (p.Met373Leu)
c.1015A>C (p.Met339Leu)
c.979A>C (p.Met327Leu)
c.820A>C (p.Met274Leu)
1g.173909669_173909672delinsTCTCCA1207936941SERPINC1c.1033_1036delinsGAGA (p.Glu345=)
c.560-2179_560-2176delinsGAGA (n.560-2179_560-2176delinsGAGA)
c.889_892delinsGAGA (p.Glu297=)
c.1156_1159delinsGAGA (p.Glu386=)
c.1114_1117delinsGAGA (p.Glu372=)
c.1012_1015delinsGAGA (p.Glu338=)
c.976_979delinsGAGA (p.Glu326=)
c.817_820delinsGAGA (p.Glu273=)
1g.173909670C>ACA343773768SERPINC1c.1035G>T (p.Glu345Asp)
c.560-2177G>T (n.560-2177G>T)
c.891G>T (p.Glu297Asp)
c.1158G>T (p.Glu386Asp)
c.1116G>T (p.Glu372Asp)
c.1014G>T (p.Glu338Asp)
c.978G>T (p.Glu326Asp)
c.819G>T (p.Glu273Asp)
1g.173909670C>GCA343773770SERPINC1c.1035G>C (p.Glu345Asp)
c.560-2177G>C (n.560-2177G>C)
c.891G>C (p.Glu297Asp)
c.1158G>C (p.Glu386Asp)
c.1116G>C (p.Glu372Asp)
c.1014G>C (p.Glu338Asp)
c.978G>C (p.Glu326Asp)
c.819G>C (p.Glu273Asp)
1g.173909670C>TCA421942902SERPINC1c.1035G>A (p.Glu345=)
c.560-2177G>A (n.560-2177G>A)
c.891G>A (p.Glu297=)
c.1158G>A (p.Glu386=)
c.1116G>A (p.Glu372=)
c.1014G>A (p.Glu338=)
c.978G>A (p.Glu326=)
c.819G>A (p.Glu273=)
 COSMIC
1g.173909670_173909676delinsCTCCTCCCA1144233202SERPINC1c.1029_1035delinsGGAGGAG (p.Leu343=)
c.560-2183_560-2177delinsGGAGGAG (n.560-2183_560-2177delinsGGAGGAG)
c.885_891delinsGGAGGAG (p.Leu295=)
c.1152_1158delinsGGAGGAG (p.Leu384=)
c.1110_1116delinsGGAGGAG (p.Leu370=)
c.1008_1014delinsGGAGGAG (p.Leu336=)
c.972_978delinsGGAGGAG (p.Leu324=)
c.813_819delinsGGAGGAG (p.Leu271=)
1g.173909674_173909676delCA150670SERPINC1c.1033_1035del (p.Glu345del)
c.560-2179_560-2177del (n.560-2179_560-2177del)
c.889_891del (p.Glu297del)
c.1156_1158del (p.Glu386del)
c.1114_1116del (p.Glu372del)
c.1012_1014del (p.Glu338del)
c.976_978del (p.Glu326del)
c.817_819del (p.Glu273del)
 ClinVar dbSNP gnomAD v4
1g.173909671T>ACA343773773SERPINC1c.1034A>T (p.Glu345Val)
c.560-2178A>T (n.560-2178A>T)
c.890A>T (p.Glu297Val)
c.1157A>T (p.Glu386Val)
c.1115A>T (p.Glu372Val)
c.1013A>T (p.Glu338Val)
c.977A>T (p.Glu326Val)
c.818A>T (p.Glu273Val)
 dbSNP gnomAD v3 gnomAD v4
1g.173909671T>CCA343773775SERPINC1c.1034A>G (p.Glu345Gly)
c.560-2178A>G (n.560-2178A>G)
c.890A>G (p.Glu297Gly)
c.1157A>G (p.Glu386Gly)
c.1115A>G (p.Glu372Gly)
c.1013A>G (p.Glu338Gly)
c.977A>G (p.Glu326Gly)
c.818A>G (p.Glu273Gly)
1g.173909671T>GCA343773776SERPINC1c.1034A>C (p.Glu345Ala)
c.560-2178A>C (n.560-2178A>C)
c.890A>C (p.Glu297Ala)
c.1157A>C (p.Glu386Ala)
c.1115A>C (p.Glu372Ala)
c.1013A>C (p.Glu338Ala)
c.977A>C (p.Glu326Ala)
c.818A>C (p.Glu273Ala)
1g.173909671T=CA1207936942SERPINC1c.1034A= (p.Glu345=)
c.560-2178A= (n.560-2178A=)
c.890A= (p.Glu297=)
c.1157A= (p.Glu386=)
c.1115A= (p.Glu372=)
c.1013A= (p.Glu338=)
c.977A= (p.Glu326=)
c.818A= (p.Glu273=)
1g.173909672C>ACA343773777SERPINC1c.1033G>T (p.Glu345Ter)
c.560-2179G>T (n.560-2179G>T)
c.889G>T (p.Glu297Ter)
c.1156G>T (p.Glu386Ter)
c.1114G>T (p.Glu372Ter)
c.1012G>T (p.Glu338Ter)
c.976G>T (p.Glu326Ter)
c.817G>T (p.Glu273Ter)
1g.173909672C=CA1207936943SERPINC1c.1033G= (p.Glu345=)
c.560-2179G= (n.560-2179G=)
c.889G= (p.Glu297=)
c.1156G= (p.Glu386=)
c.1114G= (p.Glu372=)
c.1012G= (p.Glu338=)
c.976G= (p.Glu326=)
c.817G= (p.Glu273=)
1g.173909672C>GCA343773779SERPINC1c.1033G>C (p.Glu345Gln)
c.560-2179G>C (n.560-2179G>C)
c.889G>C (p.Glu297Gln)
c.1156G>C (p.Glu386Gln)
c.1114G>C (p.Glu372Gln)
c.1012G>C (p.Glu338Gln)
c.976G>C (p.Glu326Gln)
c.817G>C (p.Glu273Gln)
1g.173909672C>TCA343773780SERPINC1c.1033G>A (p.Glu345Lys)
c.560-2179G>A (n.560-2179G>A)
c.889G>A (p.Glu297Lys)
c.1156G>A (p.Glu386Lys)
c.1114G>A (p.Glu372Lys)
c.1012G>A (p.Glu338Lys)
c.976G>A (p.Glu326Lys)
c.817G>A (p.Glu273Lys)
 dbSNP gnomAD v3 gnomAD v4
1g.173909673C>ACA343773782SERPINC1c.1032G>T (p.Glu344Asp)
c.560-2180G>T (n.560-2180G>T)
c.888G>T (p.Glu296Asp)
c.1155G>T (p.Glu385Asp)
c.1113G>T (p.Glu371Asp)
c.1011G>T (p.Glu337Asp)
c.975G>T (p.Glu325Asp)
c.816G>T (p.Glu272Asp)
1g.173909673C=CA1207936944SERPINC1c.1032G= (p.Glu344=)
c.560-2180G= (n.560-2180G=)
c.888G= (p.Glu296=)
c.1155G= (p.Glu385=)
c.1113G= (p.Glu371=)
c.1011G= (p.Glu337=)
c.975G= (p.Glu325=)
c.816G= (p.Glu272=)
1g.173909673C>GCA343773784SERPINC1c.1032G>C (p.Glu344Asp)
c.560-2180G>C (n.560-2180G>C)
c.888G>C (p.Glu296Asp)
c.1155G>C (p.Glu385Asp)
c.1113G>C (p.Glu371Asp)
c.1011G>C (p.Glu337Asp)
c.975G>C (p.Glu325Asp)
c.816G>C (p.Glu272Asp)
1g.173909673C>TCA421942903SERPINC1c.1032G>A (p.Glu344=)
c.560-2180G>A (n.560-2180G>A)
c.888G>A (p.Glu296=)
c.1155G>A (p.Glu385=)
c.1113G>A (p.Glu371=)
c.1011G>A (p.Glu337=)
c.975G>A (p.Glu325=)
c.816G>A (p.Glu272=)
 dbSNP
1g.173909674T>ACA343773786SERPINC1c.1031A>T (p.Glu344Val)
c.560-2181A>T (n.560-2181A>T)
c.887A>T (p.Glu296Val)
c.1154A>T (p.Glu385Val)
c.1112A>T (p.Glu371Val)
c.1010A>T (p.Glu337Val)
c.974A>T (p.Glu325Val)
c.815A>T (p.Glu272Val)
1g.173909674T>CCA343773787SERPINC1c.1031A>G (p.Glu344Gly)
c.560-2181A>G (n.560-2181A>G)
c.887A>G (p.Glu296Gly)
c.1154A>G (p.Glu385Gly)
c.1112A>G (p.Glu371Gly)
c.1010A>G (p.Glu337Gly)
c.974A>G (p.Glu325Gly)
c.815A>G (p.Glu272Gly)
1g.173909674T>GCA343773788SERPINC1c.1031A>C (p.Glu344Ala)
c.560-2181A>C (n.560-2181A>C)
c.887A>C (p.Glu296Ala)
c.1154A>C (p.Glu385Ala)
c.1112A>C (p.Glu371Ala)
c.1010A>C (p.Glu337Ala)
c.974A>C (p.Glu325Ala)
c.815A>C (p.Glu272Ala)
 dbSNP
1g.173909674T=CA1207936945SERPINC1c.1031A= (p.Glu344=)
c.560-2181A= (n.560-2181A=)
c.887A= (p.Glu296=)
c.1154A= (p.Glu385=)
c.1112A= (p.Glu371=)
c.1010A= (p.Glu337=)
c.974A= (p.Glu325=)
c.815A= (p.Glu272=)
1g.173909675C>ACA343773790SERPINC1c.1030G>T (p.Glu344Ter)
c.560-2182G>T (n.560-2182G>T)
c.886G>T (p.Glu296Ter)
c.1153G>T (p.Glu385Ter)
c.1111G>T (p.Glu371Ter)
c.1009G>T (p.Glu337Ter)
c.973G>T (p.Glu325Ter)
c.814G>T (p.Glu272Ter)
 dbSNP
1g.173909675C=CA1207936946SERPINC1c.1030G= (p.Glu344=)
c.560-2182G= (n.560-2182G=)
c.886G= (p.Glu296=)
c.1153G= (p.Glu385=)
c.1111G= (p.Glu371=)
c.1009G= (p.Glu337=)
c.973G= (p.Glu325=)
c.814G= (p.Glu272=)
1g.173909675C>GCA343773792SERPINC1c.1030G>C (p.Glu344Gln)
c.560-2182G>C (n.560-2182G>C)
c.886G>C (p.Glu296Gln)
c.1153G>C (p.Glu385Gln)
c.1111G>C (p.Glu371Gln)
c.1009G>C (p.Glu337Gln)
c.973G>C (p.Glu325Gln)
c.814G>C (p.Glu272Gln)
1g.173909675C>TCA1251293SERPINC1c.1030G>A (p.Glu344Lys)
c.560-2182G>A (n.560-2182G>A)
c.886G>A (p.Glu296Lys)
c.1153G>A (p.Glu385Lys)
c.1111G>A (p.Glu371Lys)
c.1009G>A (p.Glu337Lys)
c.973G>A (p.Glu325Lys)
c.814G>A (p.Glu272Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.173909676C>ACA1251294SERPINC1c.1029G>T (p.Leu343Phe)
c.560-2183G>T (n.560-2183G>T)
c.885G>T (p.Leu295Phe)
c.1152G>T (p.Leu384Phe)
c.1110G>T (p.Leu370Phe)
c.1008G>T (p.Leu336Phe)
c.972G>T (p.Leu324Phe)
c.813G>T (p.Leu271Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.173909676C=CA1148229704SERPINC1c.1029G= (p.Leu343=)
c.560-2183G= (n.560-2183G=)
c.885G= (p.Leu295=)
c.1152G= (p.Leu384=)
c.1110G= (p.Leu370=)
c.1008G= (p.Leu336=)
c.972G= (p.Leu324=)
c.813G= (p.Leu271=)
1g.173909676C>GCA343773795SERPINC1c.1029G>C (p.Leu343Phe)
c.560-2183G>C (n.560-2183G>C)
c.885G>C (p.Leu295Phe)
c.1152G>C (p.Leu384Phe)
c.1110G>C (p.Leu370Phe)
c.1008G>C (p.Leu336Phe)
c.972G>C (p.Leu324Phe)
c.813G>C (p.Leu271Phe)
1g.173909676C>TCA421942905SERPINC1c.1029G>A (p.Leu343=)
c.560-2183G>A (n.560-2183G>A)
c.885G>A (p.Leu295=)
c.1152G>A (p.Leu384=)
c.1110G>A (p.Leu370=)
c.1008G>A (p.Leu336=)
c.972G>A (p.Leu324=)
c.813G>A (p.Leu271=)
1g.173909677A=CA1207936947SERPINC1c.1028T= (p.Leu343=)
c.560-2184T= (n.560-2184T=)
c.884T= (p.Leu295=)
c.1151T= (p.Leu384=)
c.1109T= (p.Leu370=)
c.1007T= (p.Leu336=)
c.971T= (p.Leu324=)
c.812T= (p.Leu271=)
1g.173909677A>CCA343773798SERPINC1c.1028T>G (p.Leu343Trp)
c.560-2184T>G (n.560-2184T>G)
c.884T>G (p.Leu295Trp)
c.1151T>G (p.Leu384Trp)
c.1109T>G (p.Leu370Trp)
c.1007T>G (p.Leu336Trp)
c.971T>G (p.Leu324Trp)
c.812T>G (p.Leu271Trp)
1g.173909677A>GCA343773799SERPINC1c.1028T>C (p.Leu343Ser)
c.560-2184T>C (n.560-2184T>C)
c.884T>C (p.Leu295Ser)
c.1151T>C (p.Leu384Ser)
c.1109T>C (p.Leu370Ser)
c.1007T>C (p.Leu336Ser)
c.971T>C (p.Leu324Ser)
c.812T>C (p.Leu271Ser)
 dbSNP gnomAD v4
1g.173909677A>TCA343773801SERPINC1c.1028T>A (p.Leu343Ter)
c.560-2184T>A (n.560-2184T>A)
c.884T>A (p.Leu295Ter)
c.1151T>A (p.Leu384Ter)
c.1109T>A (p.Leu370Ter)
c.1007T>A (p.Leu336Ter)
c.971T>A (p.Leu324Ter)
c.812T>A (p.Leu271Ter)
1g.173909678A=CA1207936948SERPINC1c.1027T= (p.Leu343=)
c.560-2185T= (n.560-2185T=)
c.883T= (p.Leu295=)
c.1150T= (p.Leu384=)
c.1108T= (p.Leu370=)
c.1006T= (p.Leu336=)
c.970T= (p.Leu324=)
c.811T= (p.Leu271=)
1g.173909678A>CCA343773803SERPINC1c.1027T>G (p.Leu343Val)
c.560-2185T>G (n.560-2185T>G)
c.883T>G (p.Leu295Val)
c.1150T>G (p.Leu384Val)
c.1108T>G (p.Leu370Val)
c.1006T>G (p.Leu336Val)
c.970T>G (p.Leu324Val)
c.811T>G (p.Leu271Val)
1g.173909678A>GCA421942906SERPINC1c.1027T>C (p.Leu343=)
c.560-2185T>C (n.560-2185T>C)
c.883T>C (p.Leu295=)
c.1150T>C (p.Leu384=)
c.1108T>C (p.Leu370=)
c.1006T>C (p.Leu336=)
c.970T>C (p.Leu324=)
c.811T>C (p.Leu271=)
 dbSNP gnomAD v4
1g.173909678A>TCA343773805SERPINC1c.1027T>A (p.Leu343Met)
c.560-2185T>A (n.560-2185T>A)
c.883T>A (p.Leu295Met)
c.1150T>A (p.Leu384Met)
c.1108T>A (p.Leu370Met)
c.1006T>A (p.Leu336Met)
c.970T>A (p.Leu324Met)
c.811T>A (p.Leu271Met)
1g.173909679T>ACA343773807SERPINC1c.1026A>T (p.Glu342Asp)
c.560-2186A>T (n.560-2186A>T)
c.882A>T (p.Glu294Asp)
c.1149A>T (p.Glu383Asp)
c.1107A>T (p.Glu369Asp)
c.1005A>T (p.Glu335Asp)
c.969A>T (p.Glu323Asp)
c.810A>T (p.Glu270Asp)
1g.173909679T>CCA421942910SERPINC1c.1026A>G (p.Glu342=)
c.560-2186A>G (n.560-2186A>G)
c.882A>G (p.Glu294=)
c.1149A>G (p.Glu383=)
c.1107A>G (p.Glu369=)
c.1005A>G (p.Glu335=)
c.969A>G (p.Glu323=)
c.810A>G (p.Glu270=)
 dbSNP
1g.173909679T>GCA343773808SERPINC1c.1026A>C (p.Glu342Asp)
c.560-2186A>C (n.560-2186A>C)
c.882A>C (p.Glu294Asp)
c.1149A>C (p.Glu383Asp)
c.1107A>C (p.Glu369Asp)
c.1005A>C (p.Glu335Asp)
c.969A>C (p.Glu323Asp)
c.810A>C (p.Glu270Asp)
1g.173909679T=CA1207936949SERPINC1c.1026A= (p.Glu342=)
c.560-2186A= (n.560-2186A=)
c.882A= (p.Glu294=)
c.1149A= (p.Glu383=)
c.1107A= (p.Glu369=)
c.1005A= (p.Glu335=)
c.969A= (p.Glu323=)
c.810A= (p.Glu270=)
1g.173909680delCA2586964403SERPINC1c.1026del (p.Glu342AspfsTer5)
c.560-2186del (n.560-2186del)
c.882del (p.Glu294AspfsTer5)
c.1149del (p.Glu383AspfsTer5)
c.1107del (p.Glu369AspfsTer5)
c.1005del (p.Glu335AspfsTer5)
c.969del (p.Glu323AspfsTer5)
c.810del (p.Glu270AspfsTer5)
1g.173909680T>ACA343773810SERPINC1c.1025A>T (p.Glu342Val)
c.559+2184A>T (n.559+2184A>T)
c.881A>T (p.Glu294Val)
c.1148A>T (p.Glu383Val)
c.1106A>T (p.Glu369Val)
c.1004A>T (p.Glu335Val)
c.968A>T (p.Glu323Val)
c.809A>T (p.Glu270Val)
1g.173909680T>CCA343773812SERPINC1c.1025A>G (p.Glu342Gly)
c.559+2184A>G (n.559+2184A>G)
c.881A>G (p.Glu294Gly)
c.1148A>G (p.Glu383Gly)
c.1106A>G (p.Glu369Gly)
c.1004A>G (p.Glu335Gly)
c.968A>G (p.Glu323Gly)
c.809A>G (p.Glu270Gly)
1g.173909680T>GCA343773814SERPINC1c.1025A>C (p.Glu342Ala)
c.559+2184A>C (n.559+2184A>C)
c.881A>C (p.Glu294Ala)
c.1148A>C (p.Glu383Ala)
c.1106A>C (p.Glu369Ala)
c.1004A>C (p.Glu335Ala)
c.968A>C (p.Glu323Ala)
c.809A>C (p.Glu270Ala)
1g.173909680_173909684delinsTCATCCA1207936950SERPINC1c.1021_1025delinsGATGA (p.Asp341=)
c.559+2180_559+2184delinsGATGA (n.559+2180_559+2184delinsGATGA)
c.877_881delinsGATGA (p.Asp293=)
c.1144_1148delinsGATGA (p.Asp382=)
c.1102_1106delinsGATGA (p.Asp368=)
c.1000_1004delinsGATGA (p.Asp334=)
c.964_968delinsGATGA (p.Asp322=)
c.805_809delinsGATGA (p.Asp269=)
1g.173909681C>ACA343773816SERPINC1c.1024G>T (p.Glu342Ter)
c.559+2183G>T (n.559+2183G>T)
c.880G>T (p.Glu294Ter)
c.1147G>T (p.Glu383Ter)
c.1105G>T (p.Glu369Ter)
c.1003G>T (p.Glu335Ter)
c.967G>T (p.Glu323Ter)
c.808G>T (p.Glu270Ter)
1g.173909681C=CA1207936951SERPINC1c.1024G= (p.Glu342=)
c.559+2183G= (n.559+2183G=)
c.880G= (p.Glu294=)
c.1147G= (p.Glu383=)
c.1105G= (p.Glu369=)
c.1003G= (p.Glu335=)
c.967G= (p.Glu323=)
c.808G= (p.Glu270=)
1g.173909681C>GCA343773818SERPINC1c.1024G>C (p.Glu342Gln)
c.559+2183G>C (n.559+2183G>C)
c.880G>C (p.Glu294Gln)
c.1147G>C (p.Glu383Gln)
c.1105G>C (p.Glu369Gln)
c.1003G>C (p.Glu335Gln)
c.967G>C (p.Glu323Gln)
c.808G>C (p.Glu270Gln)
1g.173909681C>TCA343773819SERPINC1c.1024G>A (p.Glu342Lys)
c.559+2183G>A (n.559+2183G>A)
c.880G>A (p.Glu294Lys)
c.1147G>A (p.Glu383Lys)
c.1105G>A (p.Glu369Lys)
c.1003G>A (p.Glu335Lys)
c.967G>A (p.Glu323Lys)
c.808G>A (p.Glu270Lys)
 dbSNP gnomAD v2 gnomAD v4
1g.173909681_173909686delCA2582301469SERPINC1c.1019_1024del (p.Leu340_Glu342delinsGln)
c.559+2178_559+2183del (n.559+2178_559+2183del)
c.875_880del (p.Leu292_Glu294delinsGln)
c.1142_1147del (p.Leu381_Glu383delinsGln)
c.1100_1105del (p.Leu367_Glu369delinsGln)
c.998_1003del (p.Leu333_Glu335delinsGln)
c.962_967del (p.Leu321_Glu323delinsGln)
c.803_808del (p.Leu268_Glu270delinsGln)
1g.173909681_173909686delinsCATCCACA1141581218SERPINC1c.1019_1024delinsTGGATG (p.Leu340=)
c.559+2178_559+2183delinsTGGATG (n.559+2178_559+2183delinsTGGATG)
c.875_880delinsTGGATG (p.Leu292=)
c.1142_1147delinsTGGATG (p.Leu381=)
c.1100_1105delinsTGGATG (p.Leu367=)
c.998_1003delinsTGGATG (p.Leu333=)
c.962_967delinsTGGATG (p.Leu321=)
c.803_808delinsTGGATG (p.Leu268=)
1g.173909683_173909686delCA210775SERPINC1c.1021_1024del (p.Asp341AsnfsTer5)
c.559+2180_559+2183del (n.559+2180_559+2183del)
c.877_880del (p.Asp293AsnfsTer5)
c.1144_1147del (p.Asp382AsnfsTer5)
c.1102_1105del (p.Asp368AsnfsTer5)
c.1000_1003del (p.Asp334AsnfsTer5)
c.964_967del (p.Asp322AsnfsTer5)
c.805_808del (p.Asp269AsnfsTer5)
 ClinVar dbSNP
1g.173909682A>CCA343773823SERPINC1c.1023T>G (p.Asp341Glu)
c.559+2182T>G (n.559+2182T>G)
c.879T>G (p.Asp293Glu)
c.1146T>G (p.Asp382Glu)
c.1104T>G (p.Asp368Glu)
c.1002T>G (p.Asp334Glu)
c.966T>G (p.Asp322Glu)
c.807T>G (p.Asp269Glu)
1g.173909682A>GCA421942912SERPINC1c.1023T>C (p.Asp341=)
c.559+2182T>C (n.559+2182T>C)
c.879T>C (p.Asp293=)
c.1146T>C (p.Asp382=)
c.1104T>C (p.Asp368=)
c.1002T>C (p.Asp334=)
c.966T>C (p.Asp322=)
c.807T>C (p.Asp269=)
1g.173909682A>TCA343773824SERPINC1c.1023T>A (p.Asp341Glu)
c.559+2182T>A (n.559+2182T>A)
c.879T>A (p.Asp293Glu)
c.1146T>A (p.Asp382Glu)
c.1104T>A (p.Asp368Glu)
c.1002T>A (p.Asp334Glu)
c.966T>A (p.Asp322Glu)
c.807T>A (p.Asp269Glu)
1g.173909682_173909683delCA645537736SERPINC1c.1022_1023del (p.Asp341GlyfsTer17)
c.559+2181_559+2182del (n.559+2181_559+2182del)
c.878_879del (p.Asp293GlyfsTer17)
c.1145_1146del (p.Asp382GlyfsTer17)
c.1103_1104del (p.Asp368GlyfsTer17)
c.1001_1002del (p.Asp334GlyfsTer17)
c.965_966del (p.Asp322GlyfsTer17)
c.806_807del (p.Asp269GlyfsTer17)
 COSMIC
1g.173909683T>ACA343773827SERPINC1c.1022A>T (p.Asp341Val)
c.559+2181A>T (n.559+2181A>T)
c.878A>T (p.Asp293Val)
c.1145A>T (p.Asp382Val)
c.1103A>T (p.Asp368Val)
c.1001A>T (p.Asp334Val)
c.965A>T (p.Asp322Val)
c.806A>T (p.Asp269Val)
 dbSNP gnomAD v4
1g.173909683T>CCA1251295SERPINC1c.1022A>G (p.Asp341Gly)
c.559+2181A>G (n.559+2181A>G)
c.878A>G (p.Asp293Gly)
c.1145A>G (p.Asp382Gly)
c.1103A>G (p.Asp368Gly)
c.1001A>G (p.Asp334Gly)
c.965A>G (p.Asp322Gly)
c.806A>G (p.Asp269Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.173909683T>GCA343773829SERPINC1c.1022A>C (p.Asp341Ala)
c.559+2181A>C (n.559+2181A>C)
c.878A>C (p.Asp293Ala)
c.1145A>C (p.Asp382Ala)
c.1103A>C (p.Asp368Ala)
c.1001A>C (p.Asp334Ala)
c.965A>C (p.Asp322Ala)
c.806A>C (p.Asp269Ala)
1g.173909683T=CA1207936952SERPINC1c.1022A= (p.Asp341=)
c.559+2181A= (n.559+2181A=)
c.878A= (p.Asp293=)
c.1145A= (p.Asp382=)
c.1103A= (p.Asp368=)
c.1001A= (p.Asp334=)
c.965A= (p.Asp322=)
c.806A= (p.Asp269=)
1g.173909684C>ACA343773833SERPINC1c.1021G>T (p.Asp341Tyr)
c.559+2180G>T (n.559+2180G>T)
c.877G>T (p.Asp293Tyr)
c.1144G>T (p.Asp382Tyr)
c.1102G>T (p.Asp368Tyr)
c.1000G>T (p.Asp334Tyr)
c.964G>T (p.Asp322Tyr)
c.805G>T (p.Asp269Tyr)
1g.173909684C>GCA343773835SERPINC1c.1021G>C (p.Asp341His)
c.559+2180G>C (n.559+2180G>C)
c.877G>C (p.Asp293His)
c.1144G>C (p.Asp382His)
c.1102G>C (p.Asp368His)
c.1000G>C (p.Asp334His)
c.964G>C (p.Asp322His)
c.805G>C (p.Asp269His)
1g.173909684C>TCA343773831SERPINC1c.1021G>A (p.Asp341Asn)
c.559+2180G>A (n.559+2180G>A)
c.877G>A (p.Asp293Asn)
c.1144G>A (p.Asp382Asn)
c.1102G>A (p.Asp368Asn)
c.1000G>A (p.Asp334Asn)
c.964G>A (p.Asp322Asn)
c.805G>A (p.Asp269Asn)
1g.173909685C>ACA421942914SERPINC1c.1020G>T (p.Leu340=)
c.559+2179G>T (n.559+2179G>T)
c.876G>T (p.Leu292=)
c.1143G>T (p.Leu381=)
c.1101G>T (p.Leu367=)
c.999G>T (p.Leu333=)
c.963G>T (p.Leu321=)
c.804G>T (p.Leu268=)
1g.173909685C>GCA421942915SERPINC1c.1020G>C (p.Leu340=)
c.559+2179G>C (n.559+2179G>C)
c.876G>C (p.Leu292=)
c.1143G>C (p.Leu381=)
c.1101G>C (p.Leu367=)
c.999G>C (p.Leu333=)
c.963G>C (p.Leu321=)
c.804G>C (p.Leu268=)
1g.173909685C>TCA421942916SERPINC1c.1020G>A (p.Leu340=)
c.559+2179G>A (n.559+2179G>A)
c.876G>A (p.Leu292=)
c.1143G>A (p.Leu381=)
c.1101G>A (p.Leu367=)
c.999G>A (p.Leu333=)
c.963G>A (p.Leu321=)
c.804G>A (p.Leu268=)
 gnomAD v4
1g.173909686A>CCA343773840SERPINC1c.1019T>G (p.Leu340Arg)
c.559+2178T>G (n.559+2178T>G)
c.875T>G (p.Leu292Arg)
c.1142T>G (p.Leu381Arg)
c.1100T>G (p.Leu367Arg)
c.998T>G (p.Leu333Arg)
c.962T>G (p.Leu321Arg)
c.803T>G (p.Leu268Arg)
1g.173909686A>GCA343773837SERPINC1c.1019T>C (p.Leu340Pro)
c.559+2178T>C (n.559+2178T>C)
c.875T>C (p.Leu292Pro)
c.1142T>C (p.Leu381Pro)
c.1100T>C (p.Leu367Pro)
c.998T>C (p.Leu333Pro)
c.962T>C (p.Leu321Pro)
c.803T>C (p.Leu268Pro)
1g.173909686A>TCA343773838SERPINC1c.1019T>A (p.Leu340Gln)
c.559+2178T>A (n.559+2178T>A)
c.875T>A (p.Leu292Gln)
c.1142T>A (p.Leu381Gln)
c.1100T>A (p.Leu367Gln)
c.998T>A (p.Leu333Gln)
c.962T>A (p.Leu321Gln)
c.803T>A (p.Leu268Gln)
1g.173909687G>ACA421942917SERPINC1c.1018C>T (p.Leu340=)
c.559+2177C>T (n.559+2177C>T)
c.874C>T (p.Leu292=)
c.1141C>T (p.Leu381=)
c.1099C>T (p.Leu367=)
c.997C>T (p.Leu333=)
c.961C>T (p.Leu321=)
c.802C>T (p.Leu268=)
 dbSNP gnomAD v2 COSMIC
1g.173909687G>CCA343773842SERPINC1c.1018C>G (p.Leu340Val)
c.559+2177C>G (n.559+2177C>G)
c.874C>G (p.Leu292Val)
c.1141C>G (p.Leu381Val)
c.1099C>G (p.Leu367Val)
c.997C>G (p.Leu333Val)
c.961C>G (p.Leu321Val)
c.802C>G (p.Leu268Val)
1g.173909687G=CA1207936953SERPINC1c.1018C= (p.Leu340=)
c.559+2177C= (n.559+2177C=)
c.874C= (p.Leu292=)
c.1141C= (p.Leu381=)
c.1099C= (p.Leu367=)
c.997C= (p.Leu333=)
c.961C= (p.Leu321=)
c.802C= (p.Leu268=)
1g.173909687G>TCA343773844SERPINC1c.1018C>A (p.Leu340Met)
c.559+2177C>A (n.559+2177C>A)
c.874C>A (p.Leu292Met)
c.1141C>A (p.Leu381Met)
c.1099C>A (p.Leu367Met)
c.997C>A (p.Leu333Met)
c.961C>A (p.Leu321Met)
c.802C>A (p.Leu268Met)
1g.173909688C>ACA343773846SERPINC1c.1017G>T (p.Trp339Cys)
c.559+2176G>T (n.559+2176G>T)
c.873G>T (p.Trp291Cys)
c.1140G>T (p.Trp380Cys)
c.1098G>T (p.Trp366Cys)
c.996G>T (p.Trp332Cys)
c.960G>T (p.Trp320Cys)
c.801G>T (p.Trp267Cys)
1g.173909688C>GCA343773848SERPINC1c.1017G>C (p.Trp339Cys)
c.559+2176G>C (n.559+2176G>C)
c.873G>C (p.Trp291Cys)
c.1140G>C (p.Trp380Cys)
c.1098G>C (p.Trp366Cys)
c.996G>C (p.Trp332Cys)
c.960G>C (p.Trp320Cys)
c.801G>C (p.Trp267Cys)
1g.173909688C>TCA343773850SERPINC1c.1017G>A (p.Trp339Ter)
c.559+2176G>A (n.559+2176G>A)
c.873G>A (p.Trp291Ter)
c.1140G>A (p.Trp380Ter)
c.1098G>A (p.Trp366Ter)
c.996G>A (p.Trp332Ter)
c.960G>A (p.Trp320Ter)
c.801G>A (p.Trp267Ter)
1g.173909689C>ACA343773855SERPINC1c.1016G>T (p.Trp339Leu)
c.559+2175G>T (n.559+2175G>T)
c.872G>T (p.Trp291Leu)
c.1139G>T (p.Trp380Leu)
c.1097G>T (p.Trp366Leu)
c.995G>T (p.Trp332Leu)
c.959G>T (p.Trp320Leu)
c.800G>T (p.Trp267Leu)
1g.173909689C=CA1144233205SERPINC1c.1016G= (p.Trp339=)
c.559+2175G= (n.559+2175G=)
c.872G= (p.Trp291=)
c.1139G= (p.Trp380=)
c.1097G= (p.Trp366=)
c.995G= (p.Trp332=)
c.959G= (p.Trp320=)
c.800G= (p.Trp267=)
1g.173909689C>GCA343773852SERPINC1c.1016G>C (p.Trp339Ser)
c.559+2175G>C (n.559+2175G>C)
c.872G>C (p.Trp291Ser)
c.1139G>C (p.Trp380Ser)
c.1097G>C (p.Trp366Ser)
c.995G>C (p.Trp332Ser)
c.959G>C (p.Trp320Ser)
c.800G>C (p.Trp267Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.173909689C>TCA150667SERPINC1c.1016G>A (p.Trp339Ter)
c.559+2175G>A (n.559+2175G>A)
c.872G>A (p.Trp291Ter)
c.1139G>A (p.Trp380Ter)
c.1097G>A (p.Trp366Ter)
c.995G>A (p.Trp332Ter)
c.959G>A (p.Trp320Ter)
c.800G>A (p.Trp267Ter)
 ClinVar dbSNP
1g.173909690A>CCA343773856SERPINC1c.1015T>G (p.Trp339Gly)
c.559+2174T>G (n.559+2174T>G)
c.871T>G (p.Trp291Gly)
c.1138T>G (p.Trp380Gly)
c.1096T>G (p.Trp366Gly)
c.994T>G (p.Trp332Gly)
c.958T>G (p.Trp320Gly)
c.799T>G (p.Trp267Gly)
1g.173909690A>GCA343773858SERPINC1c.1015T>C (p.Trp339Arg)
c.559+2174T>C (n.559+2174T>C)
c.871T>C (p.Trp291Arg)
c.1138T>C (p.Trp380Arg)
c.1096T>C (p.Trp366Arg)
c.994T>C (p.Trp332Arg)
c.958T>C (p.Trp320Arg)
c.799T>C (p.Trp267Arg)
1g.173909690A>TCA343773860SERPINC1c.1015T>A (p.Trp339Arg)
c.559+2174T>A (n.559+2174T>A)
c.871T>A (p.Trp291Arg)
c.1138T>A (p.Trp380Arg)
c.1096T>A (p.Trp366Arg)
c.994T>A (p.Trp332Arg)
c.958T>A (p.Trp320Arg)
c.799T>A (p.Trp267Arg)
 COSMIC
1g.173909691C>ACA343773862SERPINC1c.1014G>T (p.Glu338Asp)
c.559+2173G>T (n.559+2173G>T)
c.870G>T (p.Glu290Asp)
c.1137G>T (p.Glu379Asp)
c.1095G>T (p.Glu365Asp)
c.993G>T (p.Glu331Asp)
c.957G>T (p.Glu319Asp)
c.798G>T (p.Glu266Asp)
1g.173909691C=CA1207936954SERPINC1c.1014G= (p.Glu338=)
c.559+2173G= (n.559+2173G=)
c.870G= (p.Glu290=)
c.1137G= (p.Glu379=)
c.1095G= (p.Glu365=)
c.993G= (p.Glu331=)
c.957G= (p.Glu319=)
c.798G= (p.Glu266=)
1g.173909691C>GCA343773864SERPINC1c.1014G>C (p.Glu338Asp)
c.559+2173G>C (n.559+2173G>C)
c.870G>C (p.Glu290Asp)
c.1137G>C (p.Glu379Asp)
c.1095G>C (p.Glu365Asp)
c.993G>C (p.Glu331Asp)
c.957G>C (p.Glu319Asp)
c.798G>C (p.Glu266Asp)
1g.173909691C>TCA421942921SERPINC1c.1014G>A (p.Glu338=)
c.559+2173G>A (n.559+2173G>A)
c.870G>A (p.Glu290=)
c.1137G>A (p.Glu379=)
c.1095G>A (p.Glu365=)
c.993G>A (p.Glu331=)
c.957G>A (p.Glu319=)
c.798G>A (p.Glu266=)
 dbSNP gnomAD v4
1g.173909692T>ACA343773866SERPINC1c.1013A>T (p.Glu338Val)
c.559+2172A>T (n.559+2172A>T)
c.869A>T (p.Glu290Val)
c.1136A>T (p.Glu379Val)
c.1094A>T (p.Glu365Val)
c.992A>T (p.Glu331Val)
c.956A>T (p.Glu319Val)
c.797A>T (p.Glu266Val)
1g.173909692T>CCA343773870SERPINC1c.1013A>G (p.Glu338Gly)
c.559+2172A>G (n.559+2172A>G)
c.869A>G (p.Glu290Gly)
c.1136A>G (p.Glu379Gly)
c.1094A>G (p.Glu365Gly)
c.992A>G (p.Glu331Gly)
c.956A>G (p.Glu319Gly)
c.797A>G (p.Glu266Gly)
1g.173909692T>GCA343773868SERPINC1c.1013A>C (p.Glu338Ala)
c.559+2172A>C (n.559+2172A>C)
c.869A>C (p.Glu290Ala)
c.1136A>C (p.Glu379Ala)
c.1094A>C (p.Glu365Ala)
c.992A>C (p.Glu331Ala)
c.956A>C (p.Glu319Ala)
c.797A>C (p.Glu266Ala)
1g.173909693C>ACA343773872SERPINC1c.1012G>T (p.Glu338Ter)
c.559+2171G>T (n.559+2171G>T)
c.868G>T (p.Glu290Ter)
c.1135G>T (p.Glu379Ter)
c.1093G>T (p.Glu365Ter)
c.991G>T (p.Glu331Ter)
c.955G>T (p.Glu319Ter)
c.796G>T (p.Glu266Ter)
1g.173909693C>GCA343773874SERPINC1c.1012G>C (p.Glu338Gln)
c.559+2171G>C (n.559+2171G>C)
c.868G>C (p.Glu290Gln)
c.1135G>C (p.Glu379Gln)
c.1093G>C (p.Glu365Gln)
c.991G>C (p.Glu331Gln)
c.955G>C (p.Glu319Gln)
c.796G>C (p.Glu266Gln)
1g.173909693C>TCA343773876SERPINC1c.1012G>A (p.Glu338Lys)
c.559+2171G>A (n.559+2171G>A)
c.868G>A (p.Glu290Lys)
c.1135G>A (p.Glu379Lys)
c.1093G>A (p.Glu365Lys)
c.991G>A (p.Glu331Lys)
c.955G>A (p.Glu319Lys)
c.796G>A (p.Glu266Lys)
1g.173909694T>ACA343773877SERPINC1c.1011A>T (p.Gln337His)
c.559+2170A>T (n.559+2170A>T)
c.867A>T (p.Gln289His)
c.1134A>T (p.Gln378His)
c.1092A>T (p.Gln364His)
c.990A>T (p.Gln330His)
c.954A>T (p.Gln318His)
c.795A>T (p.Gln265His)
 dbSNP
1g.173909694T>CCA1251296SERPINC1c.1011A>G (p.Gln337=)
c.559+2170A>G (n.559+2170A>G)
c.867A>G (p.Gln289=)
c.1134A>G (p.Gln378=)
c.1092A>G (p.Gln364=)
c.990A>G (p.Gln330=)
c.954A>G (p.Gln318=)
c.795A>G (p.Gln265=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.173909694T>GCA343773879SERPINC1c.1011A>C (p.Gln337His)
c.559+2170A>C (n.559+2170A>C)
c.867A>C (p.Gln289His)
c.1134A>C (p.Gln378His)
c.1092A>C (p.Gln364His)
c.990A>C (p.Gln330His)
c.954A>C (p.Gln318His)
c.795A>C (p.Gln265His)
 gnomAD v4
1g.173909694T=CA1139773038SERPINC1c.1011A= (p.Gln337=)
c.559+2170A= (n.559+2170A=)
c.867A= (p.Gln289=)
c.1134A= (p.Gln378=)
c.1092A= (p.Gln364=)
c.990A= (p.Gln330=)
c.954A= (p.Gln318=)
c.795A= (p.Gln265=)
1g.173909695T>ACA343773881SERPINC1c.1010A>T (p.Gln337Leu)
c.559+2169A>T (n.559+2169A>T)
c.866A>T (p.Gln289Leu)
c.1133A>T (p.Gln378Leu)
c.1091A>T (p.Gln364Leu)
c.989A>T (p.Gln330Leu)
c.953A>T (p.Gln318Leu)
c.794A>T (p.Gln265Leu)
1g.173909695T>CCA343773883SERPINC1c.1010A>G (p.Gln337Arg)
c.559+2169A>G (n.559+2169A>G)
c.866A>G (p.Gln289Arg)
c.1133A>G (p.Gln378Arg)
c.1091A>G (p.Gln364Arg)
c.989A>G (p.Gln330Arg)
c.953A>G (p.Gln318Arg)
c.794A>G (p.Gln265Arg)
1g.173909695T>GCA343773884SERPINC1c.1010A>C (p.Gln337Pro)
c.559+2169A>C (n.559+2169A>C)
c.866A>C (p.Gln289Pro)
c.1133A>C (p.Gln378Pro)
c.1091A>C (p.Gln364Pro)
c.989A>C (p.Gln330Pro)
c.953A>C (p.Gln318Pro)
c.794A>C (p.Gln265Pro)
1g.173909696G>ACA343773887SERPINC1c.1009C>T (p.Gln337Ter)
c.559+2168C>T (n.559+2168C>T)
c.865C>T (p.Gln289Ter)
c.1132C>T (p.Gln378Ter)
c.1090C>T (p.Gln364Ter)
c.988C>T (p.Gln330Ter)
c.952C>T (p.Gln318Ter)
c.793C>T (p.Gln265Ter)
 ClinVar
1g.173909696G>CCA343773888SERPINC1c.1009C>G (p.Gln337Glu)
c.559+2168C>G (n.559+2168C>G)
c.865C>G (p.Gln289Glu)
c.1132C>G (p.Gln378Glu)
c.1090C>G (p.Gln364Glu)
c.988C>G (p.Gln330Glu)
c.952C>G (p.Gln318Glu)
c.793C>G (p.Gln265Glu)
1g.173909696G>TCA343773890SERPINC1c.1009C>A (p.Gln337Lys)
c.559+2168C>A (n.559+2168C>A)
c.865C>A (p.Gln289Lys)
c.1132C>A (p.Gln378Lys)
c.1090C>A (p.Gln364Lys)
c.988C>A (p.Gln330Lys)
c.952C>A (p.Gln318Lys)
c.793C>A (p.Gln265Lys)
1g.173909697delCA2573953230SERPINC1c.1008del (p.Gln337LysfsTer10)
c.559+2167del (n.559+2167del)
c.864del (p.Gln289LysfsTer10)
c.1131del (p.Gln378LysfsTer10)
c.1089del (p.Gln364LysfsTer10)
c.987del (p.Gln330LysfsTer10)
c.951del (p.Gln318LysfsTer10)
c.792del (p.Gln265LysfsTer10)
1g.173909697C>ACA421942923SERPINC1c.1008G>T (p.Leu336=)
c.559+2167G>T (n.559+2167G>T)
c.864G>T (p.Leu288=)
c.1131G>T (p.Leu377=)
c.1089G>T (p.Leu363=)
c.987G>T (p.Leu329=)
c.951G>T (p.Leu317=)
c.792G>T (p.Leu264=)
 gnomAD v4
1g.173909697C=CA1149067844SERPINC1c.1008G= (p.Leu336=)
c.559+2167G= (n.559+2167G=)
c.864G= (p.Leu288=)
c.1131G= (p.Leu377=)
c.1089G= (p.Leu363=)
c.987G= (p.Leu329=)
c.951G= (p.Leu317=)
c.792G= (p.Leu264=)
1g.173909697C>GCA1251297SERPINC1c.1008G>C (p.Leu336=)
c.559+2167G>C (n.559+2167G>C)
c.864G>C (p.Leu288=)
c.1131G>C (p.Leu377=)
c.1089G>C (p.Leu363=)
c.987G>C (p.Leu329=)
c.951G>C (p.Leu317=)
c.792G>C (p.Leu264=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.173909697C>TCA421942924SERPINC1c.1008G>A (p.Leu336=)
c.559+2167G>A (n.559+2167G>A)
c.864G>A (p.Leu288=)
c.1131G>A (p.Leu377=)
c.1089G>A (p.Leu363=)
c.987G>A (p.Leu329=)
c.951G>A (p.Leu317=)
c.792G>A (p.Leu264=)
1g.173909698A>CCA343773896SERPINC1c.1007T>G (p.Leu336Arg)
c.559+2166T>G (n.559+2166T>G)
c.863T>G (p.Leu288Arg)
c.1130T>G (p.Leu377Arg)
c.1088T>G (p.Leu363Arg)
c.986T>G (p.Leu329Arg)
c.950T>G (p.Leu317Arg)
c.791T>G (p.Leu264Arg)
 COSMIC
1g.173909698A>GCA343773892SERPINC1c.1007T>C (p.Leu336Pro)
c.559+2166T>C (n.559+2166T>C)
c.863T>C (p.Leu288Pro)
c.1130T>C (p.Leu377Pro)
c.1088T>C (p.Leu363Pro)
c.986T>C (p.Leu329Pro)
c.950T>C (p.Leu317Pro)
c.791T>C (p.Leu264Pro)
 ClinVar
1g.173909698A>TCA343773894SERPINC1c.1007T>A (p.Leu336Gln)
c.559+2166T>A (n.559+2166T>A)
c.863T>A (p.Leu288Gln)
c.1130T>A (p.Leu377Gln)
c.1088T>A (p.Leu363Gln)
c.986T>A (p.Leu329Gln)
c.950T>A (p.Leu317Gln)
c.791T>A (p.Leu264Gln)
1g.173909699G>ACA421942925SERPINC1c.1006C>T (p.Leu336=)
c.559+2165C>T (n.559+2165C>T)
c.862C>T (p.Leu288=)
c.1129C>T (p.Leu377=)
c.1087C>T (p.Leu363=)
c.985C>T (p.Leu329=)
c.949C>T (p.Leu317=)
c.790C>T (p.Leu264=)
1g.173909699G>CCA343773898SERPINC1c.1006C>G (p.Leu336Val)
c.559+2165C>G (n.559+2165C>G)
c.862C>G (p.Leu288Val)
c.1129C>G (p.Leu377Val)
c.1087C>G (p.Leu363Val)
c.985C>G (p.Leu329Val)
c.949C>G (p.Leu317Val)
c.790C>G (p.Leu264Val)
1g.173909699G>TCA343773899SERPINC1c.1006C>A (p.Leu336Met)
c.559+2165C>A (n.559+2165C>A)
c.862C>A (p.Leu288Met)
c.1129C>A (p.Leu377Met)
c.1087C>A (p.Leu363Met)
c.985C>A (p.Leu329Met)
c.949C>A (p.Leu317Met)
c.790C>A (p.Leu264Met)
1g.173909700C>ACA421942928SERPINC1c.1005G>T (p.Val335=)
c.559+2164G>T (n.559+2164G>T)
c.861G>T (p.Val287=)
c.1128G>T (p.Val376=)
c.1086G>T (p.Val362=)
c.984G>T (p.Val328=)
c.948G>T (p.Val316=)
c.789G>T (p.Val263=)
1g.173909700C=CA1143273896SERPINC1c.1005G= (p.Val335=)
c.559+2164G= (n.559+2164G=)
c.861G= (p.Val287=)
c.1128G= (p.Val376=)
c.1086G= (p.Val362=)
c.984G= (p.Val328=)
c.948G= (p.Val316=)
c.789G= (p.Val263=)
1g.173909700C>GCA421942927SERPINC1c.1005G>C (p.Val335=)
c.559+2164G>C (n.559+2164G>C)
c.861G>C (p.Val287=)
c.1128G>C (p.Val376=)
c.1086G>C (p.Val362=)
c.984G>C (p.Val328=)
c.948G>C (p.Val316=)
c.789G>C (p.Val263=)
1g.173909700C>TCA1251298SERPINC1c.1005G>A (p.Val335=)
c.559+2164G>A (n.559+2164G>A)
c.861G>A (p.Val287=)
c.1128G>A (p.Val376=)
c.1086G>A (p.Val362=)
c.984G>A (p.Val328=)
c.948G>A (p.Val316=)
c.789G>A (p.Val263=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.173909701A>CCA343773903SERPINC1c.1004T>G (p.Val335Gly)
c.559+2163T>G (n.559+2163T>G)
c.860T>G (p.Val287Gly)
c.1127T>G (p.Val376Gly)
c.1085T>G (p.Val362Gly)
c.983T>G (p.Val328Gly)
c.947T>G (p.Val316Gly)
c.788T>G (p.Val263Gly)
1g.173909701A>GCA343773904SERPINC1c.1004T>C (p.Val335Ala)
c.559+2163T>C (n.559+2163T>C)
c.860T>C (p.Val287Ala)
c.1127T>C (p.Val376Ala)
c.1085T>C (p.Val362Ala)
c.983T>C (p.Val328Ala)
c.947T>C (p.Val316Ala)
c.788T>C (p.Val263Ala)
1g.173909701A>TCA343773906SERPINC1c.1004T>A (p.Val335Glu)
c.559+2163T>A (n.559+2163T>A)
c.860T>A (p.Val287Glu)
c.1127T>A (p.Val376Glu)
c.1085T>A (p.Val362Glu)
c.983T>A (p.Val328Glu)
c.947T>A (p.Val316Glu)
c.788T>A (p.Val263Glu)
1g.173909702C>ACA343773908SERPINC1c.1003G>T (p.Val335Leu)
c.559+2162G>T (n.559+2162G>T)
c.859G>T (p.Val287Leu)
c.1126G>T (p.Val376Leu)
c.1084G>T (p.Val362Leu)
c.982G>T (p.Val328Leu)
c.946G>T (p.Val316Leu)
c.787G>T (p.Val263Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.173909702C=CA1207936955SERPINC1c.1003G= (p.Val335=)
c.559+2162G= (n.559+2162G=)
c.859G= (p.Val287=)
c.1126G= (p.Val376=)
c.1084G= (p.Val362=)
c.982G= (p.Val328=)
c.946G= (p.Val316=)
c.787G= (p.Val263=)
1g.173909702C>GCA343773910SERPINC1c.1003G>C (p.Val335Leu)
c.559+2162G>C (n.559+2162G>C)
c.859G>C (p.Val287Leu)
c.1126G>C (p.Val376Leu)
c.1084G>C (p.Val362Leu)
c.982G>C (p.Val328Leu)
c.946G>C (p.Val316Leu)
c.787G>C (p.Val263Leu)
 dbSNP
1g.173909702C>TCA343773912SERPINC1c.1003G>A (p.Val335Met)
c.559+2162G>A (n.559+2162G>A)
c.859G>A (p.Val287Met)
c.1126G>A (p.Val376Met)
c.1084G>A (p.Val362Met)
c.982G>A (p.Val328Met)
c.946G>A (p.Val316Met)
c.787G>A (p.Val263Met)
 dbSNP gnomAD v2 gnomAD v4
1g.173909703delCA2017997726SERPINC1c.1003del (p.Val335CysfsTer12)
c.559+2162del (n.559+2162del)
c.859del (p.Val287CysfsTer12)
c.1126del (p.Val376CysfsTer12)
c.1084del (p.Val362CysfsTer12)
c.982del (p.Val328CysfsTer12)
c.946del (p.Val316CysfsTer12)
c.787del (p.Val263CysfsTer12)
 ClinVar
1g.173909703C>ACA343773914SERPINC1c.1002G>T (p.Glu334Asp)
c.559+2161G>T (n.559+2161G>T)
c.858G>T (p.Glu286Asp)
c.1125G>T (p.Glu375Asp)
c.1083G>T (p.Glu361Asp)
c.981G>T (p.Glu327Asp)
c.945G>T (p.Glu315Asp)
c.786G>T (p.Glu262Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.173909703C=CA1207936956SERPINC1c.1002G= (p.Glu334=)
c.559+2161G= (n.559+2161G=)
c.858G= (p.Glu286=)
c.1125G= (p.Glu375=)
c.1083G= (p.Glu361=)
c.981G= (p.Glu327=)
c.945G= (p.Glu315=)
c.786G= (p.Glu262=)
1g.173909703C>GCA343773916SERPINC1c.1002G>C (p.Glu334Asp)
c.559+2161G>C (n.559+2161G>C)
c.858G>C (p.Glu286Asp)
c.1125G>C (p.Glu375Asp)
c.1083G>C (p.Glu361Asp)
c.981G>C (p.Glu327Asp)
c.945G>C (p.Glu315Asp)
c.786G>C (p.Glu262Asp)
1g.173909703C>TCA421942929SERPINC1c.1002G>A (p.Glu334=)
c.559+2161G>A (n.559+2161G>A)
c.858G>A (p.Glu286=)
c.1125G>A (p.Glu375=)
c.1083G>A (p.Glu361=)
c.981G>A (p.Glu327=)
c.945G>A (p.Glu315=)
c.786G>A (p.Glu262=)
1g.173909704T>ACA343773919SERPINC1c.1001A>T (p.Glu334Val)
c.559+2160A>T (n.559+2160A>T)
c.857A>T (p.Glu286Val)
c.1124A>T (p.Glu375Val)
c.1082A>T (p.Glu361Val)
c.980A>T (p.Glu327Val)
c.944A>T (p.Glu315Val)
c.785A>T (p.Glu262Val)
1g.173909704T>CCA343773920SERPINC1c.1001A>G (p.Glu334Gly)
c.559+2160A>G (n.559+2160A>G)
c.857A>G (p.Glu286Gly)
c.1124A>G (p.Glu375Gly)
c.1082A>G (p.Glu361Gly)
c.980A>G (p.Glu327Gly)
c.944A>G (p.Glu315Gly)
c.785A>G (p.Glu262Gly)
1g.173909704T>GCA343773918SERPINC1c.1001A>C (p.Glu334Ala)
c.559+2160A>C (n.559+2160A>C)
c.857A>C (p.Glu286Ala)
c.1124A>C (p.Glu375Ala)
c.1082A>C (p.Glu361Ala)
c.980A>C (p.Glu327Ala)
c.944A>C (p.Glu315Ala)
c.785A>C (p.Glu262Ala)
1g.173909705C>ACA343773922SERPINC1c.1000G>T (p.Glu334Ter)
c.559+2159G>T (n.559+2159G>T)
c.856G>T (p.Glu286Ter)
c.1123G>T (p.Glu375Ter)
c.1081G>T (p.Glu361Ter)
c.979G>T (p.Glu327Ter)
c.943G>T (p.Glu315Ter)
c.784G>T (p.Glu262Ter)
1g.173909705C>GCA343773923SERPINC1c.1000G>C (p.Glu334Gln)
c.559+2159G>C (n.559+2159G>C)
c.856G>C (p.Glu286Gln)
c.1123G>C (p.Glu375Gln)
c.1081G>C (p.Glu361Gln)
c.979G>C (p.Glu327Gln)
c.943G>C (p.Glu315Gln)
c.784G>C (p.Glu262Gln)
1g.173909705C>TCA343773925SERPINC1c.1000G>A (p.Glu334Lys)
c.559+2159G>A (n.559+2159G>A)
c.856G>A (p.Glu286Lys)
c.1123G>A (p.Glu375Lys)
c.1081G>A (p.Glu361Lys)
c.979G>A (p.Glu327Lys)
c.943G>A (p.Glu315Lys)
c.784G>A (p.Glu262Lys)
 ClinVar gnomAD v4
1g.173909706T>ACA421942931SERPINC1c.999A>T (p.Pro333=)
c.559+2158A>T (n.559+2158A>T)
c.855A>T (p.Pro285=)
c.1122A>T (p.Pro374=)
c.1080A>T (p.Pro360=)
c.978A>T (p.Pro326=)
c.942A>T (p.Pro314=)
c.783A>T (p.Pro261=)
1g.173909706T>CCA421942933SERPINC1c.999A>G (p.Pro333=)
c.559+2158A>G (n.559+2158A>G)
c.855A>G (p.Pro285=)
c.1122A>G (p.Pro374=)
c.1080A>G (p.Pro360=)
c.978A>G (p.Pro326=)
c.942A>G (p.Pro314=)
c.783A>G (p.Pro261=)
1g.173909706T>GCA421942932SERPINC1c.999A>C (p.Pro333=)
c.559+2158A>C (n.559+2158A>C)
c.855A>C (p.Pro285=)
c.1122A>C (p.Pro374=)
c.1080A>C (p.Pro360=)
c.978A>C (p.Pro326=)
c.942A>C (p.Pro314=)
c.783A>C (p.Pro261=)
1g.173909707G>ACA343773927SERPINC1c.998C>T (p.Pro333Leu)
c.559+2157C>T (n.559+2157C>T)
c.854C>T (p.Pro285Leu)
c.1121C>T (p.Pro374Leu)
c.1079C>T (p.Pro360Leu)
c.977C>T (p.Pro326Leu)
c.941C>T (p.Pro314Leu)
c.782C>T (p.Pro261Leu)
1g.173909707G>CCA343773929SERPINC1c.998C>G (p.Pro333Arg)
c.559+2157C>G (n.559+2157C>G)
c.854C>G (p.Pro285Arg)
c.1121C>G (p.Pro374Arg)
c.1079C>G (p.Pro360Arg)
c.977C>G (p.Pro326Arg)
c.941C>G (p.Pro314Arg)
c.782C>G (p.Pro261Arg)
1g.173909707G>TCA343773930SERPINC1c.998C>A (p.Pro333Gln)
c.559+2157C>A (n.559+2157C>A)
c.854C>A (p.Pro285Gln)
c.1121C>A (p.Pro374Gln)
c.1079C>A (p.Pro360Gln)
c.977C>A (p.Pro326Gln)
c.941C>A (p.Pro314Gln)
c.782C>A (p.Pro261Gln)
1g.173909708G>ACA343773933SERPINC1c.997C>T (p.Pro333Ser)
c.559+2156C>T (n.559+2156C>T)
c.853C>T (p.Pro285Ser)
c.1120C>T (p.Pro374Ser)
c.1078C>T (p.Pro360Ser)
c.976C>T (p.Pro326Ser)
c.940C>T (p.Pro314Ser)
c.781C>T (p.Pro261Ser)
1g.173909708G>CCA343773937SERPINC1c.997C>G (p.Pro333Ala)
c.559+2156C>G (n.559+2156C>G)
c.853C>G (p.Pro285Ala)
c.1120C>G (p.Pro374Ala)
c.1078C>G (p.Pro360Ala)
c.976C>G (p.Pro326Ala)
c.940C>G (p.Pro314Ala)
c.781C>G (p.Pro261Ala)
1g.173909708G>TCA343773935SERPINC1c.997C>A (p.Pro333Thr)
c.559+2156C>A (n.559+2156C>A)
c.853C>A (p.Pro285Thr)
c.1120C>A (p.Pro374Thr)
c.1078C>A (p.Pro360Thr)
c.976C>A (p.Pro326Thr)
c.940C>A (p.Pro314Thr)
c.781C>A (p.Pro261Thr)
1g.173909709G>ACA1251299SERPINC1c.996C>T (p.Thr332=)
c.559+2155C>T (n.559+2155C>T)
c.852C>T (p.Thr284=)
c.1119C>T (p.Thr373=)
c.1077C>T (p.Thr359=)
c.975C>T (p.Thr325=)
c.939C>T (p.Thr313=)
c.780C>T (p.Thr260=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.173909709G>CCA421942935SERPINC1c.996C>G (p.Thr332=)
c.559+2155C>G (n.559+2155C>G)
c.852C>G (p.Thr284=)
c.1119C>G (p.Thr373=)
c.1077C>G (p.Thr359=)
c.975C>G (p.Thr325=)
c.939C>G (p.Thr313=)
c.780C>G (p.Thr260=)
1g.173909709G=CA1207936957SERPINC1c.996C= (p.Thr332=)
c.559+2155C= (n.559+2155C=)
c.852C= (p.Thr284=)
c.1119C= (p.Thr373=)
c.1077C= (p.Thr359=)
c.975C= (p.Thr325=)
c.939C= (p.Thr313=)
c.780C= (p.Thr260=)
1g.173909709G>TCA421942936SERPINC1c.996C>A (p.Thr332=)
c.559+2155C>A (n.559+2155C>A)
c.852C>A (p.Thr284=)
c.1119C>A (p.Thr373=)
c.1077C>A (p.Thr359=)
c.975C>A (p.Thr325=)
c.939C>A (p.Thr313=)
c.780C>A (p.Thr260=)
 gnomAD v4
1g.173909710G>ACA349809SERPINC1c.995C>T (p.Thr332Ile)
c.559+2154C>T (n.559+2154C>T)
c.851C>T (p.Thr284Ile)
c.1118C>T (p.Thr373Ile)
c.1076C>T (p.Thr359Ile)
c.974C>T (p.Thr325Ile)
c.938C>T (p.Thr313Ile)
c.779C>T (p.Thr260Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.173909710G>CCA343773941SERPINC1c.995C>G (p.Thr332Ser)
c.559+2154C>G (n.559+2154C>G)
c.851C>G (p.Thr284Ser)
c.1118C>G (p.Thr373Ser)
c.1076C>G (p.Thr359Ser)
c.974C>G (p.Thr325Ser)
c.938C>G (p.Thr313Ser)
c.779C>G (p.Thr260Ser)
1g.173909710G=CA1147305941SERPINC1c.995C= (p.Thr332=)
c.559+2154C= (n.559+2154C=)
c.851C= (p.Thr284=)
c.1118C= (p.Thr373=)
c.1076C= (p.Thr359=)
c.974C= (p.Thr325=)
c.938C= (p.Thr313=)
c.779C= (p.Thr260=)
1g.173909710G>TCA343773943SERPINC1c.995C>A (p.Thr332Asn)
c.559+2154C>A (n.559+2154C>A)
c.851C>A (p.Thr284Asn)
c.1118C>A (p.Thr373Asn)
c.1076C>A (p.Thr359Asn)
c.974C>A (p.Thr325Asn)
c.938C>A (p.Thr313Asn)
c.779C>A (p.Thr260Asn)
1g.173909711T>ACA343773945SERPINC1c.994A>T (p.Thr332Ser)
c.559+2153A>T (n.559+2153A>T)
c.850A>T (p.Thr284Ser)
c.1117A>T (p.Thr373Ser)
c.1075A>T (p.Thr359Ser)
c.973A>T (p.Thr325Ser)
c.937A>T (p.Thr313Ser)
c.778A>T (p.Thr260Ser)
1g.173909711T>CCA343773949SERPINC1c.994A>G (p.Thr332Ala)
c.559+2153A>G (n.559+2153A>G)
c.850A>G (p.Thr284Ala)
c.1117A>G (p.Thr373Ala)
c.1075A>G (p.Thr359Ala)
c.973A>G (p.Thr325Ala)
c.937A>G (p.Thr313Ala)
c.778A>G (p.Thr260Ala)
1g.173909711T>GCA343773947SERPINC1c.994A>C (p.Thr332Pro)
c.559+2153A>C (n.559+2153A>C)
c.850A>C (p.Thr284Pro)
c.1117A>C (p.Thr373Pro)
c.1075A>C (p.Thr359Pro)
c.973A>C (p.Thr325Pro)
c.937A>C (p.Thr313Pro)
c.778A>C (p.Thr260Pro)
1g.173909712delCA2580612098SERPINC1c.993del (p.Thr332ProfsTer15)
c.559+2152del (n.559+2152del)
c.849del (p.Thr284ProfsTer15)
c.1116del (p.Thr373ProfsTer15)
c.1074del (p.Thr359ProfsTer15)
c.972del (p.Thr325ProfsTer15)
c.936del (p.Thr313ProfsTer15)
c.777del (p.Thr260ProfsTer15)
1g.173909712G>ACA421942941SERPINC1c.993C>T (p.Leu331=)
c.559+2152C>T (n.559+2152C>T)
c.849C>T (p.Leu283=)
c.1116C>T (p.Leu372=)
c.1074C>T (p.Leu358=)
c.972C>T (p.Leu324=)
c.936C>T (p.Leu312=)
c.777C>T (p.Leu259=)
 gnomAD v4
1g.173909712G>CCA421942943SERPINC1c.993C>G (p.Leu331=)
c.559+2152C>G (n.559+2152C>G)
c.849C>G (p.Leu283=)
c.1116C>G (p.Leu372=)
c.1074C>G (p.Leu358=)
c.972C>G (p.Leu324=)
c.936C>G (p.Leu312=)
c.777C>G (p.Leu259=)
 dbSNP
1g.173909712G>TCA421942944SERPINC1c.993C>A (p.Leu331=)
c.559+2152C>A (n.559+2152C>A)
c.849C>A (p.Leu283=)
c.1116C>A (p.Leu372=)
c.1074C>A (p.Leu358=)
c.972C>A (p.Leu324=)
c.936C>A (p.Leu312=)
c.777C>A (p.Leu259=)
1g.173909713delCA2586964404SERPINC1c.992del (p.Leu331ProfsTer16)
c.559+2151del (n.559+2151del)
c.848del (p.Leu283ProfsTer16)
c.1115del (p.Leu372ProfsTer16)
c.1073del (p.Leu358ProfsTer16)
c.971del (p.Leu324ProfsTer16)
c.935del (p.Leu312ProfsTer16)
c.776del (p.Leu259ProfsTer16)
1g.173909713A>CCA343773951SERPINC1c.992T>G (p.Leu331Arg)
c.559+2151T>G (n.559+2151T>G)
c.848T>G (p.Leu283Arg)
c.1115T>G (p.Leu372Arg)
c.1073T>G (p.Leu358Arg)
c.971T>G (p.Leu324Arg)
c.935T>G (p.Leu312Arg)
c.776T>G (p.Leu259Arg)
1g.173909713A>GCA343773954SERPINC1c.992T>C (p.Leu331Pro)
c.559+2151T>C (n.559+2151T>C)
c.848T>C (p.Leu283Pro)
c.1115T>C (p.Leu372Pro)
c.1073T>C (p.Leu358Pro)
c.971T>C (p.Leu324Pro)
c.935T>C (p.Leu312Pro)
c.776T>C (p.Leu259Pro)
1g.173909713A>TCA343773953SERPINC1c.992T>A (p.Leu331His)
c.559+2151T>A (n.559+2151T>A)
c.848T>A (p.Leu283His)
c.1115T>A (p.Leu372His)
c.1073T>A (p.Leu358His)
c.971T>A (p.Leu324His)
c.935T>A (p.Leu312His)
c.776T>A (p.Leu259His)
1g.173909714G>ACA343773956SERPINC1c.991C>T (p.Leu331Phe)
c.559+2150C>T (n.559+2150C>T)
c.847C>T (p.Leu283Phe)
c.1114C>T (p.Leu372Phe)
c.1072C>T (p.Leu358Phe)
c.970C>T (p.Leu324Phe)
c.934C>T (p.Leu312Phe)
c.775C>T (p.Leu259Phe)
 gnomAD v4
1g.173909714G>CCA343773957SERPINC1c.991C>G (p.Leu331Val)
c.559+2150C>G (n.559+2150C>G)
c.847C>G (p.Leu283Val)
c.1114C>G (p.Leu372Val)
c.1072C>G (p.Leu358Val)
c.970C>G (p.Leu324Val)
c.934C>G (p.Leu312Val)
c.775C>G (p.Leu259Val)
 dbSNP
1g.173909714G=CA1207936958SERPINC1c.991C= (p.Leu331=)
c.559+2150C= (n.559+2150C=)
c.847C= (p.Leu283=)
c.1114C= (p.Leu372=)
c.1072C= (p.Leu358=)
c.970C= (p.Leu324=)
c.934C= (p.Leu312=)
c.775C= (p.Leu259=)
1g.173909714G>TCA343773958SERPINC1c.991C>A (p.Leu331Ile)
c.559+2150C>A (n.559+2150C>A)
c.847C>A (p.Leu283Ile)
c.1114C>A (p.Leu372Ile)
c.1072C>A (p.Leu358Ile)
c.970C>A (p.Leu324Ile)
c.934C>A (p.Leu312Ile)
c.775C>A (p.Leu259Ile)
1g.173909715T>ACA343773959SERPINC1c.990A>T (p.Glu330Asp)
c.559+2149A>T (n.559+2149A>T)
c.846A>T (p.Glu282Asp)
c.1113A>T (p.Glu371Asp)
c.1071A>T (p.Glu357Asp)
c.969A>T (p.Glu323Asp)
c.933A>T (p.Glu311Asp)
c.774A>T (p.Glu258Asp)
1g.173909715T>CCA421942949SERPINC1c.990A>G (p.Glu330=)
c.559+2149A>G (n.559+2149A>G)
c.846A>G (p.Glu282=)
c.1113A>G (p.Glu371=)
c.1071A>G (p.Glu357=)
c.969A>G (p.Glu323=)
c.933A>G (p.Glu311=)
c.774A>G (p.Glu258=)
 dbSNP gnomAD v4 COSMIC
1g.173909715T>GCA343773961SERPINC1c.990A>C (p.Glu330Asp)
c.559+2149A>C (n.559+2149A>C)
c.846A>C (p.Glu282Asp)
c.1113A>C (p.Glu371Asp)
c.1071A>C (p.Glu357Asp)
c.969A>C (p.Glu323Asp)
c.933A>C (p.Glu311Asp)
c.774A>C (p.Glu258Asp)
1g.173909715T=CA1207936959SERPINC1c.990A= (p.Glu330=)
c.559+2149A= (n.559+2149A=)
c.846A= (p.Glu282=)
c.1113A= (p.Glu371=)
c.1071A= (p.Glu357=)
c.969A= (p.Glu323=)
c.933A= (p.Glu311=)
c.774A= (p.Glu258=)
1g.173909716T>ACA343773963SERPINC1c.989A>T (p.Glu330Val)
c.559+2148A>T (n.559+2148A>T)
c.845A>T (p.Glu282Val)
c.1112A>T (p.Glu371Val)
c.1070A>T (p.Glu357Val)
c.968A>T (p.Glu323Val)
c.932A>T (p.Glu311Val)
c.773A>T (p.Glu258Val)
1g.173909716T>CCA343773965SERPINC1c.989A>G (p.Glu330Gly)
c.559+2148A>G (n.559+2148A>G)
c.845A>G (p.Glu282Gly)
c.1112A>G (p.Glu371Gly)
c.1070A>G (p.Glu357Gly)
c.968A>G (p.Glu323Gly)
c.932A>G (p.Glu311Gly)
c.773A>G (p.Glu258Gly)
1g.173909716T>GCA343773966SERPINC1c.989A>C (p.Glu330Ala)
c.559+2148A>C (n.559+2148A>C)
c.845A>C (p.Glu282Ala)
c.1112A>C (p.Glu371Ala)
c.1070A>C (p.Glu357Ala)
c.968A>C (p.Glu323Ala)
c.932A>C (p.Glu311Ala)
c.773A>C (p.Glu258Ala)
1g.173909717C>ACA343773968SERPINC1c.988G>T (p.Glu330Ter)
c.559+2147G>T (n.559+2147G>T)
c.844G>T (p.Glu282Ter)
c.1111G>T (p.Glu371Ter)
c.1069G>T (p.Glu357Ter)
c.967G>T (p.Glu323Ter)
c.931G>T (p.Glu311Ter)
c.772G>T (p.Glu258Ter)
1g.173909717C>GCA343773969SERPINC1c.988G>C (p.Glu330Gln)
c.559+2147G>C (n.559+2147G>C)
c.844G>C (p.Glu282Gln)
c.1111G>C (p.Glu371Gln)
c.1069G>C (p.Glu357Gln)
c.967G>C (p.Glu323Gln)
c.931G>C (p.Glu311Gln)
c.772G>C (p.Glu258Gln)
1g.173909717C>TCA343773971SERPINC1c.988G>A (p.Glu330Lys)
c.559+2147G>A (n.559+2147G>A)
c.844G>A (p.Glu282Lys)
c.1111G>A (p.Glu371Lys)
c.1069G>A (p.Glu357Lys)
c.967G>A (p.Glu323Lys)
c.931G>A (p.Glu311Lys)
c.772G>A (p.Glu258Lys)
 COSMIC
1g.173909718C>ACA343773973SERPINC1c.987G>T (p.Lys329Asn)
c.559+2146G>T (n.559+2146G>T)
c.843G>T (p.Lys281Asn)
c.1110G>T (p.Lys370Asn)
c.1068G>T (p.Lys356Asn)
c.966G>T (p.Lys322Asn)
c.930G>T (p.Lys310Asn)
c.771G>T (p.Lys257Asn)
1g.173909718C>GCA343773975SERPINC1c.987G>C (p.Lys329Asn)
c.559+2146G>C (n.559+2146G>C)
c.843G>C (p.Lys281Asn)
c.1110G>C (p.Lys370Asn)
c.1068G>C (p.Lys356Asn)
c.966G>C (p.Lys322Asn)
c.930G>C (p.Lys310Asn)
c.771G>C (p.Lys257Asn)
 gnomAD v4
1g.173909718C>TCA421942956SERPINC1c.987G>A (p.Lys329=)
c.559+2146G>A (n.559+2146G>A)
c.843G>A (p.Lys281=)
c.1110G>A (p.Lys370=)
c.1068G>A (p.Lys356=)
c.966G>A (p.Lys322=)
c.930G>A (p.Lys310=)
c.771G>A (p.Lys257=)
 COSMIC
1g.173909719T>ACA343773977SERPINC1c.986A>T (p.Lys329Met)
c.559+2145A>T (n.559+2145A>T)
c.842A>T (p.Lys281Met)
c.1109A>T (p.Lys370Met)
c.1067A>T (p.Lys356Met)
c.965A>T (p.Lys322Met)
c.929A>T (p.Lys310Met)
c.770A>T (p.Lys257Met)
1g.173909719T>CCA343773980SERPINC1c.986A>G (p.Lys329Arg)
c.559+2145A>G (n.559+2145A>G)
c.842A>G (p.Lys281Arg)
c.1109A>G (p.Lys370Arg)
c.1067A>G (p.Lys356Arg)
c.965A>G (p.Lys322Arg)
c.929A>G (p.Lys310Arg)
c.770A>G (p.Lys257Arg)
 dbSNP gnomAD v4
1g.173909719T>GCA343773979SERPINC1c.986A>C (p.Lys329Thr)
c.559+2145A>C (n.559+2145A>C)
c.842A>C (p.Lys281Thr)
c.1109A>C (p.Lys370Thr)
c.1067A>C (p.Lys356Thr)
c.965A>C (p.Lys322Thr)
c.929A>C (p.Lys310Thr)
c.770A>C (p.Lys257Thr)
 dbSNP gnomAD v4
1g.173909719T=CA1207936960SERPINC1c.986A= (p.Lys329=)
c.559+2145A= (n.559+2145A=)
c.842A= (p.Lys281=)
c.1109A= (p.Lys370=)
c.1067A= (p.Lys356=)
c.965A= (p.Lys322=)
c.929A= (p.Lys310=)
c.770A= (p.Lys257=)
1g.173909720T>ACA343773981SERPINC1c.985A>T (p.Lys329Ter)
c.559+2144A>T (n.559+2144A>T)
c.841A>T (p.Lys281Ter)
c.1108A>T (p.Lys370Ter)
c.1066A>T (p.Lys356Ter)
c.964A>T (p.Lys322Ter)
c.928A>T (p.Lys310Ter)
c.769A>T (p.Lys257Ter)
1g.173909720T>CCA343773983SERPINC1c.985A>G (p.Lys329Glu)
c.559+2144A>G (n.559+2144A>G)
c.841A>G (p.Lys281Glu)
c.1108A>G (p.Lys370Glu)
c.1066A>G (p.Lys356Glu)
c.964A>G (p.Lys322Glu)
c.928A>G (p.Lys310Glu)
c.769A>G (p.Lys257Glu)
 dbSNP gnomAD v2
1g.173909720T>GCA343773985SERPINC1c.985A>C (p.Lys329Gln)
c.559+2144A>C (n.559+2144A>C)
c.841A>C (p.Lys281Gln)
c.1108A>C (p.Lys370Gln)
c.1066A>C (p.Lys356Gln)
c.964A>C (p.Lys322Gln)
c.928A>C (p.Lys310Gln)
c.769A>C (p.Lys257Gln)
 dbSNP
1g.173909720T=CA1207936961SERPINC1c.985A= (p.Lys329=)
c.559+2144A= (n.559+2144A=)
c.841A= (p.Lys281=)
c.1108A= (p.Lys370=)
c.1066A= (p.Lys356=)
c.964A= (p.Lys322=)
c.928A= (p.Lys310=)
c.769A= (p.Lys257=)
1g.173909721C>ACA343773987SERPINC1c.984G>T (p.Glu328Asp)
c.559+2143G>T (n.559+2143G>T)
c.840G>T (p.Glu280Asp)
c.1107G>T (p.Glu369Asp)
c.1065G>T (p.Glu355Asp)
c.963G>T (p.Glu321Asp)
c.927G>T (p.Glu309Asp)
c.768G>T (p.Glu256Asp)
1g.173909721C>GCA343773989SERPINC1c.984G>C (p.Glu328Asp)
c.559+2143G>C (n.559+2143G>C)
c.840G>C (p.Glu280Asp)
c.1107G>C (p.Glu369Asp)
c.1065G>C (p.Glu355Asp)
c.963G>C (p.Glu321Asp)
c.927G>C (p.Glu309Asp)
c.768G>C (p.Glu256Asp)
1g.173909721C>TCA421942959SERPINC1c.984G>A (p.Glu328=)
c.559+2143G>A (n.559+2143G>A)
c.840G>A (p.Glu280=)
c.1107G>A (p.Glu369=)
c.1065G>A (p.Glu355=)
c.963G>A (p.Glu321=)
c.927G>A (p.Glu309=)
c.768G>A (p.Glu256=)
1g.173909722T>ACA343773991SERPINC1c.983A>T (p.Glu328Val)
c.559+2142A>T (n.559+2142A>T)
c.839A>T (p.Glu280Val)
c.1106A>T (p.Glu369Val)
c.1064A>T (p.Glu355Val)
c.962A>T (p.Glu321Val)
c.926A>T (p.Glu309Val)
c.767A>T (p.Glu256Val)
1g.173909722T>CCA32780315SERPINC1c.983A>G (p.Glu328Gly)
c.559+2142A>G (n.559+2142A>G)
c.839A>G (p.Glu280Gly)
c.1106A>G (p.Glu369Gly)
c.1064A>G (p.Glu355Gly)
c.962A>G (p.Glu321Gly)
c.926A>G (p.Glu309Gly)
c.767A>G (p.Glu256Gly)
 dbSNP gnomAD v3 gnomAD v4
1g.173909722T>GCA343773994SERPINC1c.983A>C (p.Glu328Ala)
c.559+2142A>C (n.559+2142A>C)
c.839A>C (p.Glu280Ala)
c.1106A>C (p.Glu369Ala)
c.1064A>C (p.Glu355Ala)
c.962A>C (p.Glu321Ala)
c.926A>C (p.Glu309Ala)
c.767A>C (p.Glu256Ala)
1g.173909722T=CA1207936962SERPINC1c.983A= (p.Glu328=)
c.559+2142A= (n.559+2142A=)
c.839A= (p.Glu280=)
c.1106A= (p.Glu369=)
c.1064A= (p.Glu355=)
c.962A= (p.Glu321=)
c.926A= (p.Glu309=)
c.767A= (p.Glu256=)
1g.173909723C>ACA343773996SERPINC1c.982G>T (p.Glu328Ter)
c.559+2141G>T (n.559+2141G>T)
c.838G>T (p.Glu280Ter)
c.1105G>T (p.Glu369Ter)
c.1063G>T (p.Glu355Ter)
c.961G>T (p.Glu321Ter)
c.925G>T (p.Glu309Ter)
c.766G>T (p.Glu256Ter)
1g.173909723C=CA1207936963SERPINC1c.982G= (p.Glu328=)
c.559+2141G= (n.559+2141G=)
c.838G= (p.Glu280=)
c.1105G= (p.Glu369=)
c.1063G= (p.Glu355=)
c.961G= (p.Glu321=)
c.925G= (p.Glu309=)
c.766G= (p.Glu256=)
1g.173909723C>GCA343773997SERPINC1c.982G>C (p.Glu328Gln)
c.559+2141G>C (n.559+2141G>C)
c.838G>C (p.Glu280Gln)
c.1105G>C (p.Glu369Gln)
c.1063G>C (p.Glu355Gln)
c.961G>C (p.Glu321Gln)
c.925G>C (p.Glu309Gln)
c.766G>C (p.Glu256Gln)
 dbSNP
1g.173909723C>TCA343773999SERPINC1c.982G>A (p.Glu328Lys)
c.559+2141G>A (n.559+2141G>A)
c.838G>A (p.Glu280Lys)
c.1105G>A (p.Glu369Lys)
c.1063G>A (p.Glu355Lys)
c.961G>A (p.Glu321Lys)
c.925G>A (p.Glu309Lys)
c.766G>A (p.Glu256Lys)
1g.173909724delCA2582342993SERPINC1c.981del (p.Glu328ArgfsTer19)
c.559+2140del (n.559+2140del)
c.837del (p.Glu280ArgfsTer19)
c.1104del (p.Glu369ArgfsTer19)
c.1062del (p.Glu355ArgfsTer19)
c.960del (p.Glu321ArgfsTer19)
c.924del (p.Glu309ArgfsTer19)
c.765del (p.Glu256ArgfsTer19)
1g.173909724T>ACA421942963SERPINC1c.981A>T (p.Val327=)
c.559+2140A>T (n.559+2140A>T)
c.837A>T (p.Val279=)
c.1104A>T (p.Val368=)
c.1062A>T (p.Val354=)
c.960A>T (p.Val320=)
c.924A>T (p.Val308=)
c.765A>T (p.Val255=)
 dbSNP
1g.173909724T>CCA1251300SERPINC1c.981A>G (p.Val327=)
c.559+2140A>G (n.559+2140A>G)
c.837A>G (p.Val279=)
c.1104A>G (p.Val368=)
c.1062A>G (p.Val354=)
c.960A>G (p.Val320=)
c.924A>G (p.Val308=)
c.765A>G (p.Val255=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.173909724T>GCA421942965SERPINC1c.981A>C (p.Val327=)
c.559+2140A>C (n.559+2140A>C)
c.837A>C (p.Val279=)
c.1104A>C (p.Val368=)
c.1062A>C (p.Val354=)
c.960A>C (p.Val320=)
c.924A>C (p.Val308=)
c.765A>C (p.Val255=)
1g.173909724T=CA1139773037SERPINC1c.981A= (p.Val327=)
c.559+2140A= (n.559+2140A=)
c.837A= (p.Val279=)
c.1104A= (p.Val368=)
c.1062A= (p.Val354=)
c.960A= (p.Val320=)
c.924A= (p.Val308=)
c.765A= (p.Val255=)
1g.173909725A=CA1207936964SERPINC1c.980T= (p.Val327=)
c.559+2139T= (n.559+2139T=)
c.836T= (p.Val279=)
c.1103T= (p.Val368=)
c.1061T= (p.Val354=)
c.959T= (p.Val320=)
c.923T= (p.Val308=)
c.764T= (p.Val255=)
1g.173909725A>CCA343774004SERPINC1c.980T>G (p.Val327Gly)
c.559+2139T>G (n.559+2139T>G)
c.836T>G (p.Val279Gly)
c.1103T>G (p.Val368Gly)
c.1061T>G (p.Val354Gly)
c.959T>G (p.Val320Gly)
c.923T>G (p.Val308Gly)
c.764T>G (p.Val255Gly)
1g.173909725A>GCA1251301SERPINC1c.980T>C (p.Val327Ala)
c.559+2139T>C (n.559+2139T>C)
c.836T>C (p.Val279Ala)
c.1103T>C (p.Val368Ala)
c.1061T>C (p.Val354Ala)
c.959T>C (p.Val320Ala)
c.923T>C (p.Val308Ala)
c.764T>C (p.Val255Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.173909725A>TCA343774003SERPINC1c.980T>A (p.Val327Glu)
c.559+2139T>A (n.559+2139T>A)
c.836T>A (p.Val279Glu)
c.1103T>A (p.Val368Glu)
c.1061T>A (p.Val354Glu)
c.959T>A (p.Val320Glu)
c.923T>A (p.Val308Glu)
c.764T>A (p.Val255Glu)
1g.173909726C>ACA343774006SERPINC1c.979G>T (p.Val327Leu)
c.559+2138G>T (n.559+2138G>T)
c.835G>T (p.Val279Leu)
c.1102G>T (p.Val368Leu)
c.1060G>T (p.Val354Leu)
c.958G>T (p.Val320Leu)
c.922G>T (p.Val308Leu)
c.763G>T (p.Val255Leu)
1g.173909726C=CA1207936965SERPINC1c.979G= (p.Val327=)
c.559+2138G= (n.559+2138G=)
c.835G= (p.Val279=)
c.1102G= (p.Val368=)
c.1060G= (p.Val354=)
c.958G= (p.Val320=)
c.922G= (p.Val308=)
c.763G= (p.Val255=)
1g.173909726C>GCA343774007SERPINC1c.979G>C (p.Val327Leu)
c.559+2138G>C (n.559+2138G>C)
c.835G>C (p.Val279Leu)
c.1102G>C (p.Val368Leu)
c.1060G>C (p.Val354Leu)
c.958G>C (p.Val320Leu)
c.922G>C (p.Val308Leu)
c.763G>C (p.Val255Leu)
1g.173909726C>TCA343774009SERPINC1c.979G>A (p.Val327Ile)
c.559+2138G>A (n.559+2138G>A)
c.835G>A (p.Val279Ile)
c.1102G>A (p.Val368Ile)
c.1060G>A (p.Val354Ile)
c.958G>A (p.Val320Ile)
c.922G>A (p.Val308Ile)
c.763G>A (p.Val255Ile)
 dbSNP
1g.173909727dupCA915940633SERPINC1c.979dup (p.Val327GlyfsTer16)
c.559+2138dup (n.559+2138dup)
c.835dup (p.Val279GlyfsTer16)
c.1102dup (p.Val368GlyfsTer16)
c.1060dup (p.Val354GlyfsTer16)
c.958dup (p.Val320GlyfsTer16)
c.922dup (p.Val308GlyfsTer16)
c.763dup (p.Val255GlyfsTer16)
1g.173909727C>ACA343774010SERPINC1c.978G>T (p.Lys326Asn)
c.559+2137G>T (n.559+2137G>T)
c.834G>T (p.Lys278Asn)
c.1101G>T (p.Lys367Asn)
c.1059G>T (p.Lys353Asn)
c.957G>T (p.Lys319Asn)
c.921G>T (p.Lys307Asn)
c.762G>T (p.Lys254Asn)
1g.173909727C=CA1207936966SERPINC1c.978G= (p.Lys326=)
c.559+2137G= (n.559+2137G=)
c.834G= (p.Lys278=)
c.1101G= (p.Lys367=)
c.1059G= (p.Lys353=)
c.957G= (p.Lys319=)
c.921G= (p.Lys307=)
c.762G= (p.Lys254=)
1g.173909727C>GCA343774012SERPINC1c.978G>C (p.Lys326Asn)
c.559+2137G>C (n.559+2137G>C)
c.834G>C (p.Lys278Asn)
c.1101G>C (p.Lys367Asn)
c.1059G>C (p.Lys353Asn)
c.957G>C (p.Lys319Asn)
c.921G>C (p.Lys307Asn)
c.762G>C (p.Lys254Asn)
1g.173909727C>TCA421942967SERPINC1c.978G>A (p.Lys326=)
c.559+2137G>A (n.559+2137G>A)
c.834G>A (p.Lys278=)
c.1101G>A (p.Lys367=)
c.1059G>A (p.Lys353=)
c.957G>A (p.Lys319=)
c.921G>A (p.Lys307=)
c.762G>A (p.Lys254=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.173909728T>ACA343774014SERPINC1c.977A>T (p.Lys326Met)
c.559+2136A>T (n.559+2136A>T)
c.833A>T (p.Lys278Met)
c.1100A>T (p.Lys367Met)
c.1058A>T (p.Lys353Met)
c.956A>T (p.Lys319Met)
c.920A>T (p.Lys307Met)
c.761A>T (p.Lys254Met)
1g.173909728T>CCA343774018SERPINC1c.977A>G (p.Lys326Arg)
c.559+2136A>G (n.559+2136A>G)
c.833A>G (p.Lys278Arg)
c.1100A>G (p.Lys367Arg)
c.1058A>G (p.Lys353Arg)
c.956A>G (p.Lys319Arg)
c.920A>G (p.Lys307Arg)
c.761A>G (p.Lys254Arg)
1g.173909728T>GCA343774016SERPINC1c.977A>C (p.Lys326Thr)
c.559+2136A>C (n.559+2136A>C)
c.833A>C (p.Lys278Thr)
c.1100A>C (p.Lys367Thr)
c.1058A>C (p.Lys353Thr)
c.956A>C (p.Lys319Thr)
c.920A>C (p.Lys307Thr)
c.761A>C (p.Lys254Thr)
1g.173909729T>ACA343774020SERPINC1c.976A>T (p.Lys326Ter)
c.559+2135A>T (n.559+2135A>T)
c.832A>T (p.Lys278Ter)
c.1099A>T (p.Lys367Ter)
c.1057A>T (p.Lys353Ter)
c.955A>T (p.Lys319Ter)
c.919A>T (p.Lys307Ter)
c.760A>T (p.Lys254Ter)
1g.173909729T>CCA343774022SERPINC1c.976A>G (p.Lys326Glu)
c.559+2135A>G (n.559+2135A>G)
c.832A>G (p.Lys278Glu)
c.1099A>G (p.Lys367Glu)
c.1057A>G (p.Lys353Glu)
c.955A>G (p.Lys319Glu)
c.919A>G (p.Lys307Glu)
c.760A>G (p.Lys254Glu)
 dbSNP
1g.173909729T>GCA343774023SERPINC1c.976A>C (p.Lys326Gln)
c.559+2135A>C (n.559+2135A>C)
c.832A>C (p.Lys278Gln)
c.1099A>C (p.Lys367Gln)
c.1057A>C (p.Lys353Gln)
c.955A>C (p.Lys319Gln)
c.919A>C (p.Lys307Gln)
c.760A>C (p.Lys254Gln)
1g.173909729T=CA1207936967SERPINC1c.976A= (p.Lys326=)
c.559+2135A= (n.559+2135A=)
c.832A= (p.Lys278=)
c.1099A= (p.Lys367=)
c.1057A= (p.Lys353=)
c.955A= (p.Lys319=)
c.919A= (p.Lys307=)
c.760A= (p.Lys254=)
1g.173909730G>ACA421942970SERPINC1c.975C>T (p.Ala325=)
n.626C>T
c.559+2134C>T (n.559+2134C>T)
c.831C>T (p.Ala277=)
c.1098C>T (p.Ala366=)
c.1056C>T (p.Ala352=)
c.954C>T (p.Ala318=)
c.918C>T (p.Ala306=)
c.759C>T (p.Ala253=)
1g.173909730G>CCA1251302SERPINC1c.975C>G (p.Ala325=)
n.626C>G
c.559+2134C>G (n.559+2134C>G)
c.831C>G (p.Ala277=)
c.1098C>G (p.Ala366=)
c.1056C>G (p.Ala352=)
c.954C>G (p.Ala318=)
c.918C>G (p.Ala306=)
c.759C>G (p.Ala253=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.173909730G=CA1143444881SERPINC1c.975C= (p.Ala325=)
n.626C=
c.559+2134C= (n.559+2134C=)
c.831C= (p.Ala277=)
c.1098C= (p.Ala366=)
c.1056C= (p.Ala352=)
c.954C= (p.Ala318=)
c.918C= (p.Ala306=)
c.759C= (p.Ala253=)
1g.173909730G>TCA421942971SERPINC1c.975C>A (p.Ala325=)
n.626C>A
c.559+2134C>A (n.559+2134C>A)
c.831C>A (p.Ala277=)
c.1098C>A (p.Ala366=)
c.1056C>A (p.Ala352=)
c.954C>A (p.Ala318=)
c.918C>A (p.Ala306=)
c.759C>A (p.Ala253=)
1g.173909731G>ACA343774024SERPINC1c.974C>T (p.Ala325Val)
n.625C>T
c.559+2133C>T (n.559+2133C>T)
c.830C>T (p.Ala277Val)
c.1097C>T (p.Ala366Val)
c.1055C>T (p.Ala352Val)
c.953C>T (p.Ala318Val)
c.917C>T (p.Ala306Val)
c.758C>T (p.Ala253Val)
 dbSNP gnomAD v4
1g.173909731G>CCA343774027SERPINC1c.974C>G (p.Ala325Gly)
n.625C>G
c.559+2133C>G (n.559+2133C>G)
c.830C>G (p.Ala277Gly)
c.1097C>G (p.Ala366Gly)
c.1055C>G (p.Ala352Gly)
c.953C>G (p.Ala318Gly)
c.917C>G (p.Ala306Gly)
c.758C>G (p.Ala253Gly)
1g.173909731G>TCA343774026SERPINC1c.974C>A (p.Ala325Asp)
n.625C>A
c.559+2133C>A (n.559+2133C>A)
c.830C>A (p.Ala277Asp)
c.1097C>A (p.Ala366Asp)
c.1055C>A (p.Ala352Asp)
c.953C>A (p.Ala318Asp)
c.917C>A (p.Ala306Asp)
c.758C>A (p.Ala253Asp)
1g.173909732C>ACA343774030SERPINC1c.973G>T (p.Ala325Ser)
n.624G>T
c.559+2132G>T (n.559+2132G>T)
c.829G>T (p.Ala277Ser)
c.1096G>T (p.Ala366Ser)
c.1054G>T (p.Ala352Ser)
c.952G>T (p.Ala318Ser)
c.916G>T (p.Ala306Ser)
c.757G>T (p.Ala253Ser)
1g.173909732C=CA1207936968SERPINC1c.973G= (p.Ala325=)
n.624G=
c.559+2132G= (n.559+2132G=)
c.829G= (p.Ala277=)
c.1096G= (p.Ala366=)
c.1054G= (p.Ala352=)
c.952G= (p.Ala318=)
c.916G= (p.Ala306=)
c.757G= (p.Ala253=)
1g.173909732C>GCA343774031SERPINC1c.973G>C (p.Ala325Pro)
n.624G>C
c.559+2132G>C (n.559+2132G>C)
c.829G>C (p.Ala277Pro)
c.1096G>C (p.Ala366Pro)
c.1054G>C (p.Ala352Pro)
c.952G>C (p.Ala318Pro)
c.916G>C (p.Ala306Pro)
c.757G>C (p.Ala253Pro)
 dbSNP
1g.173909732C>TCA343774033SERPINC1c.973G>A (p.Ala325Thr)
n.624G>A
c.559+2132G>A (n.559+2132G>A)
c.829G>A (p.Ala277Thr)
c.1096G>A (p.Ala366Thr)
c.1054G>A (p.Ala352Thr)
c.952G>A (p.Ala318Thr)
c.916G>A (p.Ala306Thr)
c.757G>A (p.Ala253Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.173909733C>ACA421942974SERPINC1c.972G>T (p.Leu324=)
n.623G>T
c.559+2131G>T (n.559+2131G>T)
c.828G>T (p.Leu276=)
c.1095G>T (p.Leu365=)
c.1053G>T (p.Leu351=)
c.951G>T (p.Leu317=)
c.915G>T (p.Leu305=)
c.756G>T (p.Leu252=)
1g.173909733C=CA1207936969SERPINC1c.972G= (p.Leu324=)
n.623G=
c.559+2131G= (n.559+2131G=)
c.828G= (p.Leu276=)
c.1095G= (p.Leu365=)
c.1053G= (p.Leu351=)
c.951G= (p.Leu317=)
c.915G= (p.Leu305=)
c.756G= (p.Leu252=)
1g.173909733C>GCA421942975SERPINC1c.972G>C (p.Leu324=)
n.623G>C
c.559+2131G>C (n.559+2131G>C)
c.828G>C (p.Leu276=)
c.1095G>C (p.Leu365=)
c.1053G>C (p.Leu351=)
c.951G>C (p.Leu317=)
c.915G>C (p.Leu305=)
c.756G>C (p.Leu252=)
1g.173909733C>TCA421942976SERPINC1c.972G>A (p.Leu324=)
n.623G>A
c.559+2131G>A (n.559+2131G>A)
c.828G>A (p.Leu276=)
c.1095G>A (p.Leu365=)
c.1053G>A (p.Leu351=)
c.951G>A (p.Leu317=)
c.915G>A (p.Leu305=)
c.756G>A (p.Leu252=)
 dbSNP gnomAD v3 gnomAD v4
1g.173909734A>CCA343774035SERPINC1c.971T>G (p.Leu324Arg)
n.622T>G
c.559+2130T>G (n.559+2130T>G)
c.827T>G (p.Leu276Arg)
c.1094T>G (p.Leu365Arg)
c.1052T>G (p.Leu351Arg)
c.950T>G (p.Leu317Arg)
c.914T>G (p.Leu305Arg)
c.755T>G (p.Leu252Arg)
1g.173909734A>GCA343774037SERPINC1c.971T>C (p.Leu324Pro)
n.622T>C
c.559+2130T>C (n.559+2130T>C)
c.827T>C (p.Leu276Pro)
c.1094T>C (p.Leu365Pro)
c.1052T>C (p.Leu351Pro)
c.950T>C (p.Leu317Pro)
c.914T>C (p.Leu305Pro)
c.755T>C (p.Leu252Pro)
1g.173909734A>TCA343774039SERPINC1c.971T>A (p.Leu324Gln)
n.622T>A
c.559+2130T>A (n.559+2130T>A)
c.827T>A (p.Leu276Gln)
c.1094T>A (p.Leu365Gln)
c.1052T>A (p.Leu351Gln)
c.950T>A (p.Leu317Gln)
c.914T>A (p.Leu305Gln)
c.755T>A (p.Leu252Gln)
1g.173909735G>ACA421942977SERPINC1c.970C>T (p.Leu324=)
n.621C>T
c.559+2129C>T (n.559+2129C>T)
c.826C>T (p.Leu276=)
c.1093C>T (p.Leu365=)
c.1051C>T (p.Leu351=)
c.949C>T (p.Leu317=)
c.913C>T (p.Leu305=)
c.754C>T (p.Leu252=)
 dbSNP
1g.173909735G>CCA343774040SERPINC1c.970C>G (p.Leu324Val)
n.621C>G
c.559+2129C>G (n.559+2129C>G)
c.826C>G (p.Leu276Val)
c.1093C>G (p.Leu365Val)
c.1051C>G (p.Leu351Val)
c.949C>G (p.Leu317Val)
c.913C>G (p.Leu305Val)
c.754C>G (p.Leu252Val)
1g.173909735G=CA1207936970SERPINC1c.970C= (p.Leu324=)
n.621C=
c.559+2129C= (n.559+2129C=)
c.826C= (p.Leu276=)
c.1093C= (p.Leu365=)
c.1051C= (p.Leu351=)
c.949C= (p.Leu317=)
c.913C= (p.Leu305=)
c.754C= (p.Leu252=)
1g.173909735G>TCA1251303SERPINC1c.970C>A (p.Leu324Met)
n.621C>A
c.559+2129C>A (n.559+2129C>A)
c.826C>A (p.Leu276Met)
c.1093C>A (p.Leu365Met)
c.1051C>A (p.Leu351Met)
c.949C>A (p.Leu317Met)
c.913C>A (p.Leu305Met)
c.754C>A (p.Leu252Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.173909736G>ACA32780322SERPINC1c.969C>T (p.Ser323=)
n.620C>T
c.559+2128C>T (n.559+2128C>T)
c.825C>T (p.Ser275=)
c.1092C>T (p.Ser364=)
c.1050C>T (p.Ser350=)
c.948C>T (p.Ser316=)
c.912C>T (p.Ser304=)
c.753C>T (p.Ser251=)
 dbSNP
1g.173909736G>CCA343774043SERPINC1c.969C>G (p.Ser323Arg)
n.620C>G
c.559+2128C>G (n.559+2128C>G)
c.825C>G (p.Ser275Arg)
c.1092C>G (p.Ser364Arg)
c.1050C>G (p.Ser350Arg)
c.948C>G (p.Ser316Arg)
c.912C>G (p.Ser304Arg)
c.753C>G (p.Ser251Arg)
1g.173909736G=CA1207936972SERPINC1c.969C= (p.Ser323=)
n.620C=
c.559+2128C= (n.559+2128C=)
c.825C= (p.Ser275=)
c.1092C= (p.Ser364=)
c.1050C= (p.Ser350=)
c.948C= (p.Ser316=)
c.912C= (p.Ser304=)
c.753C= (p.Ser251=)
1g.173909736G>TCA343774044SERPINC1c.969C>A (p.Ser323Arg)
n.620C>A
c.559+2128C>A (n.559+2128C>A)
c.825C>A (p.Ser275Arg)
c.1092C>A (p.Ser364Arg)
c.1050C>A (p.Ser350Arg)
c.948C>A (p.Ser316Arg)
c.912C>A (p.Ser304Arg)
c.753C>A (p.Ser251Arg)
1g.173909736_173909738delinsGCTCA1207936971SERPINC1c.967_969delinsAGC (p.Ser323=)
n.618_620delinsAGC
c.559+2126_559+2128delinsAGC (n.559+2126_559+2128delinsAGC)
c.823_825delinsAGC (p.Ser275=)
c.1090_1092delinsAGC (p.Ser364=)
c.1048_1050delinsAGC (p.Ser350=)
c.946_948delinsAGC (p.Ser316=)
c.910_912delinsAGC (p.Ser304=)
c.751_753delinsAGC (p.Ser251=)
1g.173909737C>ACA343774049SERPINC1c.968G>T (p.Ser323Ile)
n.619G>T
c.559+2127G>T (n.559+2127G>T)
c.824G>T (p.Ser275Ile)
c.1091G>T (p.Ser364Ile)
c.1049G>T (p.Ser350Ile)
c.947G>T (p.Ser316Ile)
c.911G>T (p.Ser304Ile)
c.752G>T (p.Ser251Ile)
1g.173909737C>GCA343774051SERPINC1c.968G>C (p.Ser323Thr)
n.619G>C
c.559+2127G>C (n.559+2127G>C)
c.824G>C (p.Ser275Thr)
c.1091G>C (p.Ser364Thr)
c.1049G>C (p.Ser350Thr)
c.947G>C (p.Ser316Thr)
c.911G>C (p.Ser304Thr)
c.752G>C (p.Ser251Thr)
1g.173909737C>TCA343774047SERPINC1c.968G>A (p.Ser323Asn)
n.619G>A
c.559+2127G>A (n.559+2127G>A)
c.824G>A (p.Ser275Asn)
c.1091G>A (p.Ser364Asn)
c.1049G>A (p.Ser350Asn)
c.947G>A (p.Ser316Asn)
c.911G>A (p.Ser304Asn)
c.752G>A (p.Ser251Asn)
1g.173909737_173909740delinsCTCTCA1141581219SERPINC1c.965_968delinsAGAG (p.Lys322=)
n.616_619delinsAGAG
c.559+2124_559+2127delinsAGAG (n.559+2124_559+2127delinsAGAG)
c.821_824delinsAGAG (p.Lys274=)
c.1088_1091delinsAGAG (p.Lys363=)
c.1046_1049delinsAGAG (p.Lys349=)
c.944_947delinsAGAG (p.Lys315=)
c.908_911delinsAGAG (p.Lys303=)
c.749_752delinsAGAG (p.Lys250=)
1g.173909739_173909740delCA210774SERPINC1c.967_968del (p.Ser323ProfsTer19)
n.618_619del
c.559+2126_559+2127del (n.559+2126_559+2127del)
c.823_824del (p.Ser275ProfsTer19)
c.1090_1091del (p.Ser364ProfsTer19)
c.1048_1049del (p.Ser350ProfsTer19)
c.946_947del (p.Ser316ProfsTer19)
c.910_911del (p.Ser304ProfsTer19)
c.751_752del (p.Ser251ProfsTer19)
 ClinVar dbSNP
1g.173909738T>ACA343774055SERPINC1c.967A>T (p.Ser323Cys)
n.618A>T
c.559+2126A>T (n.559+2126A>T)
c.823A>T (p.Ser275Cys)
c.1090A>T (p.Ser364Cys)
c.1048A>T (p.Ser350Cys)
c.946A>T (p.Ser316Cys)
c.910A>T (p.Ser304Cys)
c.751A>T (p.Ser251Cys)
1g.173909738T>CCA343774053SERPINC1c.967A>G (p.Ser323Gly)
n.618A>G
c.559+2126A>G (n.559+2126A>G)
c.823A>G (p.Ser275Gly)
c.1090A>G (p.Ser364Gly)
c.1048A>G (p.Ser350Gly)
c.946A>G (p.Ser316Gly)
c.910A>G (p.Ser304Gly)
c.751A>G (p.Ser251Gly)
 dbSNP gnomAD v2 gnomAD v4
1g.173909738T>GCA343774057SERPINC1c.967A>C (p.Ser323Arg)
n.618A>C
c.559+2126A>C (n.559+2126A>C)
c.823A>C (p.Ser275Arg)
c.1090A>C (p.Ser364Arg)
c.1048A>C (p.Ser350Arg)
c.946A>C (p.Ser316Arg)
c.910A>C (p.Ser304Arg)
c.751A>C (p.Ser251Arg)
1g.173909738T=CA1207936973SERPINC1c.967A= (p.Ser323=)
n.618A=
c.559+2126A= (n.559+2126A=)
c.823A= (p.Ser275=)
c.1090A= (p.Ser364=)
c.1048A= (p.Ser350=)
c.946A= (p.Ser316=)
c.910A= (p.Ser304=)
c.751A= (p.Ser251=)
1g.173909739C>ACA343774059SERPINC1c.966G>T (p.Lys322Asn)
n.617G>T
c.559+2125G>T (n.559+2125G>T)
c.822G>T (p.Lys274Asn)
c.1089G>T (p.Lys363Asn)
c.1047G>T (p.Lys349Asn)
c.945G>T (p.Lys315Asn)
c.909G>T (p.Lys303Asn)
c.750G>T (p.Lys250Asn)
 gnomAD v4
1g.173909739C=CA1207936974SERPINC1c.966G= (p.Lys322=)
n.617G=
c.559+2125G= (n.559+2125G=)
c.822G= (p.Lys274=)
c.1089G= (p.Lys363=)
c.1047G= (p.Lys349=)
c.945G= (p.Lys315=)
c.909G= (p.Lys303=)
c.750G= (p.Lys250=)
1g.173909739C>GCA343774061SERPINC1c.966G>C (p.Lys322Asn)
n.617G>C
c.559+2125G>C (n.559+2125G>C)
c.822G>C (p.Lys274Asn)
c.1089G>C (p.Lys363Asn)
c.1047G>C (p.Lys349Asn)
c.945G>C (p.Lys315Asn)
c.909G>C (p.Lys303Asn)
c.750G>C (p.Lys250Asn)
1g.173909739C>TCA32780328SERPINC1c.966G>A (p.Lys322=)
n.617G>A
c.559+2125G>A (n.559+2125G>A)
c.822G>A (p.Lys274=)
c.1089G>A (p.Lys363=)
c.1047G>A (p.Lys349=)
c.945G>A (p.Lys315=)
c.909G>A (p.Lys303=)
c.750G>A (p.Lys250=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.173909740T>ACA343774063SERPINC1c.965A>T (p.Lys322Met)
n.616A>T
c.559+2124A>T (n.559+2124A>T)
c.821A>T (p.Lys274Met)
c.1088A>T (p.Lys363Met)
c.1046A>T (p.Lys349Met)
c.944A>T (p.Lys315Met)
c.908A>T (p.Lys303Met)
c.749A>T (p.Lys250Met)
1g.173909740T>CCA343774065SERPINC1c.965A>G (p.Lys322Arg)
n.616A>G
c.559+2124A>G (n.559+2124A>G)
c.821A>G (p.Lys274Arg)
c.1088A>G (p.Lys363Arg)
c.1046A>G (p.Lys349Arg)
c.944A>G (p.Lys315Arg)
c.908A>G (p.Lys303Arg)
c.749A>G (p.Lys250Arg)
 gnomAD v4
1g.173909740T>GCA343774067SERPINC1c.965A>C (p.Lys322Thr)
n.616A>C
c.559+2124A>C (n.559+2124A>C)
c.821A>C (p.Lys274Thr)
c.1088A>C (p.Lys363Thr)
c.1046A>C (p.Lys349Thr)
c.944A>C (p.Lys315Thr)
c.908A>C (p.Lys303Thr)
c.749A>C (p.Lys250Thr)
1g.173909741T>ACA343774069SERPINC1c.964A>T (p.Lys322Ter)
n.615A>T
c.559+2123A>T (n.559+2123A>T)
c.820A>T (p.Lys274Ter)
c.1087A>T (p.Lys363Ter)
c.1045A>T (p.Lys349Ter)
c.943A>T (p.Lys315Ter)
c.907A>T (p.Lys303Ter)
c.748A>T (p.Lys250Ter)
1g.173909741T>CCA343774071SERPINC1c.964A>G (p.Lys322Glu)
n.615A>G
c.559+2123A>G (n.559+2123A>G)
c.820A>G (p.Lys274Glu)
c.1087A>G (p.Lys363Glu)
c.1045A>G (p.Lys349Glu)
c.943A>G (p.Lys315Glu)
c.907A>G (p.Lys303Glu)
c.748A>G (p.Lys250Glu)
1g.173909741T>GCA343774072SERPINC1c.964A>C (p.Lys322Gln)
n.615A>C
c.559+2123A>C (n.559+2123A>C)
c.820A>C (p.Lys274Gln)
c.1087A>C (p.Lys363Gln)
c.1045A>C (p.Lys349Gln)
c.943A>C (p.Lys315Gln)
c.907A>C (p.Lys303Gln)
c.748A>C (p.Lys250Gln)
1g.173909742C>ACA343774074SERPINC1c.963G>T (p.Glu321Asp)
n.614G>T
c.559+2122G>T (n.559+2122G>T)
c.819G>T (p.Glu273Asp)
c.1086G>T (p.Glu362Asp)
c.1044G>T (p.Glu348Asp)
c.942G>T (p.Glu314Asp)
c.906G>T (p.Glu302Asp)
c.747G>T (p.Glu249Asp)
1g.173909742C>GCA343774075SERPINC1c.963G>C (p.Glu321Asp)
n.614G>C
c.559+2122G>C (n.559+2122G>C)
c.819G>C (p.Glu273Asp)
c.1086G>C (p.Glu362Asp)
c.1044G>C (p.Glu348Asp)
c.942G>C (p.Glu314Asp)
c.906G>C (p.Glu302Asp)
c.747G>C (p.Glu249Asp)
1g.173909742C>TCA421942983SERPINC1c.963G>A (p.Glu321=)
n.614G>A
c.559+2122G>A (n.559+2122G>A)
c.819G>A (p.Glu273=)
c.1086G>A (p.Glu362=)
c.1044G>A (p.Glu348=)
c.942G>A (p.Glu314=)
c.906G>A (p.Glu302=)
c.747G>A (p.Glu249=)
 gnomAD v4 COSMIC
1g.173909743T>ACA343774077SERPINC1c.962A>T (p.Glu321Val)
n.613A>T
c.559+2121A>T (n.559+2121A>T)
c.818A>T (p.Glu273Val)
c.1085A>T (p.Glu362Val)
c.1043A>T (p.Glu348Val)
c.941A>T (p.Glu314Val)
c.905A>T (p.Glu302Val)
c.746A>T (p.Glu249Val)
1g.173909743T>CCA343774079SERPINC1c.962A>G (p.Glu321Gly)
n.613A>G
c.559+2121A>G (n.559+2121A>G)
c.818A>G (p.Glu273Gly)
c.1085A>G (p.Glu362Gly)
c.1043A>G (p.Glu348Gly)
c.941A>G (p.Glu314Gly)
c.905A>G (p.Glu302Gly)
c.746A>G (p.Glu249Gly)
1g.173909743T>GCA343774081SERPINC1c.962A>C (p.Glu321Ala)
n.613A>C
c.559+2121A>C (n.559+2121A>C)
c.818A>C (p.Glu273Ala)
c.1085A>C (p.Glu362Ala)
c.1043A>C (p.Glu348Ala)
c.941A>C (p.Glu314Ala)
c.905A>C (p.Glu302Ala)
c.746A>C (p.Glu249Ala)
1g.173909744C>ACA343774087SERPINC1c.961G>T (p.Glu321Ter)
n.612G>T
c.559+2120G>T (n.559+2120G>T)
c.817G>T (p.Glu273Ter)
c.1084G>T (p.Glu362Ter)
c.1042G>T (p.Glu348Ter)
c.940G>T (p.Glu314Ter)
c.904G>T (p.Glu302Ter)
c.745G>T (p.Glu249Ter)
1g.173909744C=CA1207936975SERPINC1c.961G= (p.Glu321=)
n.612G=
c.559+2120G= (n.559+2120G=)
c.817G= (p.Glu273=)
c.1084G= (p.Glu362=)
c.1042G= (p.Glu348=)
c.940G= (p.Glu314=)
c.904G= (p.Glu302=)
c.745G= (p.Glu249=)
1g.173909744C>GCA343774083SERPINC1c.961G>C (p.Glu321Gln)
n.612G>C
c.559+2120G>C (n.559+2120G>C)
c.817G>C (p.Glu273Gln)
c.1084G>C (p.Glu362Gln)
c.1042G>C (p.Glu348Gln)
c.940G>C (p.Glu314Gln)
c.904G>C (p.Glu302Gln)
c.745G>C (p.Glu249Gln)
1g.173909744C>TCA343774085SERPINC1c.961G>A (p.Glu321Lys)
n.612G>A
c.559+2120G>A (n.559+2120G>A)
c.817G>A (p.Glu273Lys)
c.1084G>A (p.Glu362Lys)
c.1042G>A (p.Glu348Lys)
c.940G>A (p.Glu314Lys)
c.904G>A (p.Glu302Lys)
c.745G>A (p.Glu249Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched