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.173909543T>CCA2649173922SERPINC1c.1153+9A>G (n.1153+9A>G)
c.560-2050A>G (n.560-2050A>G)
c.1009+9A>G (n.1009+9A>G)
c.1276+9A>G (n.1276+9A>G)
c.1234+9A>G (n.1234+9A>G)
c.1132+9A>G (n.1132+9A>G)
c.1096+9A>G (n.1096+9A>G)
c.937+9A>G (n.937+9A>G)
 gnomAD v4
1g.173909543dupCA2649173921SERPINC1c.1153+9dup (n.1153+9dup)
c.560-2050dup (n.560-2050dup)
c.1009+9dup (n.1009+9dup)
c.1276+9dup (n.1276+9dup)
c.1234+9dup (n.1234+9dup)
c.1132+9dup (n.1132+9dup)
c.1096+9dup (n.1096+9dup)
c.937+9dup (n.937+9dup)
 gnomAD v4
1g.173909545G>ACA2740090406SERPINC1c.1153+7C>T (n.1153+7C>T)
c.560-2052C>T (n.560-2052C>T)
c.1009+7C>T (n.1009+7C>T)
c.1276+7C>T (n.1276+7C>T)
c.1234+7C>T (n.1234+7C>T)
c.1132+7C>T (n.1132+7C>T)
c.1096+7C>T (n.1096+7C>T)
c.937+7C>T (n.937+7C>T)
 ClinVar
1g.173909547C>ACA915943668SERPINC1c.1153+5G>T (n.1153+5G>T)
c.560-2054G>T (n.560-2054G>T)
c.1009+5G>T (n.1009+5G>T)
c.1276+5G>T (n.1276+5G>T)
c.1234+5G>T (n.1234+5G>T)
c.1132+5G>T (n.1132+5G>T)
c.1096+5G>T (n.1096+5G>T)
c.937+5G>T (n.937+5G>T)
 ClinVar dbSNP
1g.173909547C=CA1207936892SERPINC1c.1153+5G= (n.1153+5G=)
c.560-2054G= (n.560-2054G=)
c.1009+5G= (n.1009+5G=)
c.1276+5G= (n.1276+5G=)
c.1234+5G= (n.1234+5G=)
c.1132+5G= (n.1132+5G=)
c.1096+5G= (n.1096+5G=)
c.937+5G= (n.937+5G=)
1g.173909547C>GCA2586964399SERPINC1c.1153+5G>C (n.1153+5G>C)
c.560-2054G>C (n.560-2054G>C)
c.1009+5G>C (n.1009+5G>C)
c.1276+5G>C (n.1276+5G>C)
c.1234+5G>C (n.1234+5G>C)
c.1132+5G>C (n.1132+5G>C)
c.1096+5G>C (n.1096+5G>C)
c.937+5G>C (n.937+5G>C)
 gnomAD v4
1g.173909549A>CCA2649173925SERPINC1c.1153+3T>G (n.1153+3T>G)
c.560-2056T>G (n.560-2056T>G)
c.1009+3T>G (n.1009+3T>G)
c.1276+3T>G (n.1276+3T>G)
c.1234+3T>G (n.1234+3T>G)
c.1132+3T>G (n.1132+3T>G)
c.1096+3T>G (n.1096+3T>G)
c.937+3T>G (n.937+3T>G)
 gnomAD v4
1g.173909550A>CCA343773453SERPINC1c.1153+2T>G (n.1153+2T>G)
c.560-2057T>G (n.560-2057T>G)
c.1009+2T>G (n.1009+2T>G)
c.1276+2T>G (n.1276+2T>G)
c.1234+2T>G (n.1234+2T>G)
c.1132+2T>G (n.1132+2T>G)
c.1096+2T>G (n.1096+2T>G)
c.937+2T>G (n.937+2T>G)
1g.173909550A>GCA343773451SERPINC1c.1153+2T>C (n.1153+2T>C)
c.560-2057T>C (n.560-2057T>C)
c.1009+2T>C (n.1009+2T>C)
c.1276+2T>C (n.1276+2T>C)
c.1234+2T>C (n.1234+2T>C)
c.1132+2T>C (n.1132+2T>C)
c.1096+2T>C (n.1096+2T>C)
c.937+2T>C (n.937+2T>C)
1g.173909550A>TCA343773452SERPINC1c.1153+2T>A (n.1153+2T>A)
c.560-2057T>A (n.560-2057T>A)
c.1009+2T>A (n.1009+2T>A)
c.1276+2T>A (n.1276+2T>A)
c.1234+2T>A (n.1234+2T>A)
c.1132+2T>A (n.1132+2T>A)
c.1096+2T>A (n.1096+2T>A)
c.937+2T>A (n.937+2T>A)
1g.173909551C>ACA343773454SERPINC1c.1153+1G>T (n.1153+1G>T)
c.560-2058G>T (n.560-2058G>T)
c.1009+1G>T (n.1009+1G>T)
c.1276+1G>T (n.1276+1G>T)
c.1234+1G>T (n.1234+1G>T)
c.1132+1G>T (n.1132+1G>T)
c.1096+1G>T (n.1096+1G>T)
c.937+1G>T (n.937+1G>T)
1g.173909551C>GCA343773455SERPINC1c.1153+1G>C (n.1153+1G>C)
c.560-2058G>C (n.560-2058G>C)
c.1009+1G>C (n.1009+1G>C)
c.1276+1G>C (n.1276+1G>C)
c.1234+1G>C (n.1234+1G>C)
c.1132+1G>C (n.1132+1G>C)
c.1096+1G>C (n.1096+1G>C)
c.937+1G>C (n.937+1G>C)
1g.173909551C>TCA343773456SERPINC1c.1153+1G>A (n.1153+1G>A)
c.560-2058G>A (n.560-2058G>A)
c.1009+1G>A (n.1009+1G>A)
c.1276+1G>A (n.1276+1G>A)
c.1234+1G>A (n.1234+1G>A)
c.1132+1G>A (n.1132+1G>A)
c.1096+1G>A (n.1096+1G>A)
c.937+1G>A (n.937+1G>A)
1g.173909551_173909552delCA2695195500SERPINC1c.1153_1153+1del
c.560-2059_560-2058del (n.560-2059_560-2058del)
c.1009_1009+1del
c.1276_1276+1del
c.1234_1234+1del
c.1132_1132+1del
c.1096_1096+1del
c.937_937+1del
1g.173909552delCA2582343009SERPINC1c.1153+1del
c.560-2058del (n.560-2058del)
c.1009+1del
c.1276+1del
c.1234+1del
c.1132+1del
c.1096+1del
c.937+1del
1g.173909552C>ACA343773457SERPINC1c.1153G>T (p.Gly385Cys)
c.560-2059G>T (n.560-2059G>T)
c.1009G>T (p.Gly337Cys)
c.1276G>T (p.Gly426Cys)
c.1234G>T (p.Gly412Cys)
c.1132G>T (p.Gly378Cys)
c.1096G>T (p.Gly366Cys)
c.937G>T (p.Gly313Cys)
1g.173909552C>GCA343773458SERPINC1c.1153G>C (p.Gly385Arg)
c.560-2059G>C (n.560-2059G>C)
c.1009G>C (p.Gly337Arg)
c.1276G>C (p.Gly426Arg)
c.1234G>C (p.Gly412Arg)
c.1132G>C (p.Gly378Arg)
c.1096G>C (p.Gly366Arg)
c.937G>C (p.Gly313Arg)
1g.173909552C>TCA343773459SERPINC1c.1153G>A (p.Gly385Ser)
c.560-2059G>A (n.560-2059G>A)
c.1009G>A (p.Gly337Ser)
c.1276G>A (p.Gly426Ser)
c.1234G>A (p.Gly412Ser)
c.1132G>A (p.Gly378Ser)
c.1096G>A (p.Gly366Ser)
c.937G>A (p.Gly313Ser)
1g.173909553T>ACA421942772SERPINC1c.1152A>T (p.Pro384=)
c.560-2060A>T (n.560-2060A>T)
c.1008A>T (p.Pro336=)
c.1275A>T (p.Pro425=)
c.1233A>T (p.Pro411=)
c.1131A>T (p.Pro377=)
c.1095A>T (p.Pro365=)
c.936A>T (p.Pro312=)
1g.173909553T>CCA421942771SERPINC1c.1152A>G (p.Pro384=)
c.560-2060A>G (n.560-2060A>G)
c.1008A>G (p.Pro336=)
c.1275A>G (p.Pro425=)
c.1233A>G (p.Pro411=)
c.1131A>G (p.Pro377=)
c.1095A>G (p.Pro365=)
c.936A>G (p.Pro312=)
 gnomAD v4
1g.173909553T>GCA421942770SERPINC1c.1152A>C (p.Pro384=)
c.560-2060A>C (n.560-2060A>C)
c.1008A>C (p.Pro336=)
c.1275A>C (p.Pro425=)
c.1233A>C (p.Pro411=)
c.1131A>C (p.Pro377=)
c.1095A>C (p.Pro365=)
c.936A>C (p.Pro312=)
1g.173909554G>ACA1251275SERPINC1c.1151C>T (p.Pro384Leu)
c.560-2061C>T (n.560-2061C>T)
c.1007C>T (p.Pro336Leu)
c.1274C>T (p.Pro425Leu)
c.1232C>T (p.Pro411Leu)
c.1130C>T (p.Pro377Leu)
c.1094C>T (p.Pro365Leu)
c.935C>T (p.Pro312Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.173909554G>CCA343773460SERPINC1c.1151C>G (p.Pro384Arg)
c.560-2061C>G (n.560-2061C>G)
c.1007C>G (p.Pro336Arg)
c.1274C>G (p.Pro425Arg)
c.1232C>G (p.Pro411Arg)
c.1130C>G (p.Pro377Arg)
c.1094C>G (p.Pro365Arg)
c.935C>G (p.Pro312Arg)
1g.173909554G=CA1207936893SERPINC1c.1151C= (p.Pro384=)
c.560-2061C= (n.560-2061C=)
c.1007C= (p.Pro336=)
c.1274C= (p.Pro425=)
c.1232C= (p.Pro411=)
c.1130C= (p.Pro377=)
c.1094C= (p.Pro365=)
c.935C= (p.Pro312=)
1g.173909554G>TCA343773461SERPINC1c.1151C>A (p.Pro384Gln)
c.560-2061C>A (n.560-2061C>A)
c.1007C>A (p.Pro336Gln)
c.1274C>A (p.Pro425Gln)
c.1232C>A (p.Pro411Gln)
c.1130C>A (p.Pro377Gln)
c.1094C>A (p.Pro365Gln)
c.935C>A (p.Pro312Gln)
1g.173909555G>ACA343773462SERPINC1c.1150C>T (p.Pro384Ser)
c.560-2062C>T (n.560-2062C>T)
c.1006C>T (p.Pro336Ser)
c.1273C>T (p.Pro425Ser)
c.1231C>T (p.Pro411Ser)
c.1129C>T (p.Pro377Ser)
c.1093C>T (p.Pro365Ser)
c.934C>T (p.Pro312Ser)
 gnomAD v4
1g.173909555G>CCA343773463SERPINC1c.1150C>G (p.Pro384Ala)
c.560-2062C>G (n.560-2062C>G)
c.1006C>G (p.Pro336Ala)
c.1273C>G (p.Pro425Ala)
c.1231C>G (p.Pro411Ala)
c.1129C>G (p.Pro377Ala)
c.1093C>G (p.Pro365Ala)
c.934C>G (p.Pro312Ala)
1g.173909555G>TCA343773464SERPINC1c.1150C>A (p.Pro384Thr)
c.560-2062C>A (n.560-2062C>A)
c.1006C>A (p.Pro336Thr)
c.1273C>A (p.Pro425Thr)
c.1231C>A (p.Pro411Thr)
c.1129C>A (p.Pro377Thr)
c.1093C>A (p.Pro365Thr)
c.934C>A (p.Pro312Thr)
1g.173909556G>ACA421942775SERPINC1c.1149C>T (p.Leu383=)
c.560-2063C>T (n.560-2063C>T)
c.1005C>T (p.Leu335=)
c.1272C>T (p.Leu424=)
c.1230C>T (p.Leu410=)
c.1128C>T (p.Leu376=)
c.1092C>T (p.Leu364=)
c.933C>T (p.Leu311=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.173909556G>CCA421942776SERPINC1c.1149C>G (p.Leu383=)
c.560-2063C>G (n.560-2063C>G)
c.1005C>G (p.Leu335=)
c.1272C>G (p.Leu424=)
c.1230C>G (p.Leu410=)
c.1128C>G (p.Leu376=)
c.1092C>G (p.Leu364=)
c.933C>G (p.Leu311=)
1g.173909556G=CA1207936894SERPINC1c.1149C= (p.Leu383=)
c.560-2063C= (n.560-2063C=)
c.1005C= (p.Leu335=)
c.1272C= (p.Leu424=)
c.1230C= (p.Leu410=)
c.1128C= (p.Leu376=)
c.1092C= (p.Leu364=)
c.933C= (p.Leu311=)
1g.173909556G>TCA421942777SERPINC1c.1149C>A (p.Leu383=)
c.560-2063C>A (n.560-2063C>A)
c.1005C>A (p.Leu335=)
c.1272C>A (p.Leu424=)
c.1230C>A (p.Leu410=)
c.1128C>A (p.Leu376=)
c.1092C>A (p.Leu364=)
c.933C>A (p.Leu311=)
1g.173909557_173909558delCA2586964400SERPINC1c.1148_1149del (p.Leu383ProfsTer10)
c.560-2064_560-2063del (n.560-2064_560-2063del)
c.1004_1005del (p.Leu335ProfsTer10)
c.1271_1272del (p.Leu424ProfsTer10)
c.1229_1230del (p.Leu410ProfsTer10)
c.1127_1128del (p.Leu376ProfsTer10)
c.1091_1092del (p.Leu364ProfsTer10)
c.932_933del (p.Leu311ProfsTer10)
1g.173909557A>CCA343773466SERPINC1c.1148T>G (p.Leu383Arg)
c.560-2064T>G (n.560-2064T>G)
c.1004T>G (p.Leu335Arg)
c.1271T>G (p.Leu424Arg)
c.1229T>G (p.Leu410Arg)
c.1127T>G (p.Leu376Arg)
c.1091T>G (p.Leu364Arg)
c.932T>G (p.Leu311Arg)
1g.173909557A>GCA343773467SERPINC1c.1148T>C (p.Leu383Pro)
c.560-2064T>C (n.560-2064T>C)
c.1004T>C (p.Leu335Pro)
c.1271T>C (p.Leu424Pro)
c.1229T>C (p.Leu410Pro)
c.1127T>C (p.Leu376Pro)
c.1091T>C (p.Leu364Pro)
c.932T>C (p.Leu311Pro)
1g.173909557A>TCA343773465SERPINC1c.1148T>A (p.Leu383His)
c.560-2064T>A (n.560-2064T>A)
c.1004T>A (p.Leu335His)
c.1271T>A (p.Leu424His)
c.1229T>A (p.Leu410His)
c.1127T>A (p.Leu376His)
c.1091T>A (p.Leu364His)
c.932T>A (p.Leu311His)
1g.173909558delCA2586964401SERPINC1c.1147del (p.Leu383SerfsTer25)
c.560-2065del (n.560-2065del)
c.1003del (p.Leu335SerfsTer25)
c.1270del (p.Leu424SerfsTer25)
c.1228del (p.Leu410SerfsTer25)
c.1126del (p.Leu376SerfsTer25)
c.1090del (p.Leu364SerfsTer25)
c.931del (p.Leu311SerfsTer25)
1g.173909558G>ACA343773470SERPINC1c.1147C>T (p.Leu383Phe)
c.560-2065C>T (n.560-2065C>T)
c.1003C>T (p.Leu335Phe)
c.1270C>T (p.Leu424Phe)
c.1228C>T (p.Leu410Phe)
c.1126C>T (p.Leu376Phe)
c.1090C>T (p.Leu364Phe)
c.931C>T (p.Leu311Phe)
1g.173909558G>CCA343773468SERPINC1c.1147C>G (p.Leu383Val)
c.560-2065C>G (n.560-2065C>G)
c.1003C>G (p.Leu335Val)
c.1270C>G (p.Leu424Val)
c.1228C>G (p.Leu410Val)
c.1126C>G (p.Leu376Val)
c.1090C>G (p.Leu364Val)
c.931C>G (p.Leu311Val)
1g.173909558G>TCA343773469SERPINC1c.1147C>A (p.Leu383Ile)
c.560-2065C>A (n.560-2065C>A)
c.1003C>A (p.Leu335Ile)
c.1270C>A (p.Leu424Ile)
c.1228C>A (p.Leu410Ile)
c.1126C>A (p.Leu376Ile)
c.1090C>A (p.Leu364Ile)
c.931C>A (p.Leu311Ile)
1g.173909559T>ACA343773471SERPINC1c.1146A>T (p.Lys382Asn)
c.560-2066A>T (n.560-2066A>T)
c.1002A>T (p.Lys334Asn)
c.1269A>T (p.Lys423Asn)
c.1227A>T (p.Lys409Asn)
c.1125A>T (p.Lys375Asn)
c.1089A>T (p.Lys363Asn)
c.930A>T (p.Lys310Asn)
1g.173909559T>CCA421942779SERPINC1c.1146A>G (p.Lys382=)
c.560-2066A>G (n.560-2066A>G)
c.1002A>G (p.Lys334=)
c.1269A>G (p.Lys423=)
c.1227A>G (p.Lys409=)
c.1125A>G (p.Lys375=)
c.1089A>G (p.Lys363=)
c.930A>G (p.Lys310=)
1g.173909559T>GCA343773472SERPINC1c.1146A>C (p.Lys382Asn)
c.560-2066A>C (n.560-2066A>C)
c.1002A>C (p.Lys334Asn)
c.1269A>C (p.Lys423Asn)
c.1227A>C (p.Lys409Asn)
c.1125A>C (p.Lys375Asn)
c.1089A>C (p.Lys363Asn)
c.930A>C (p.Lys310Asn)
1g.173909560T>ACA343773473SERPINC1c.1145A>T (p.Lys382Ile)
c.560-2067A>T (n.560-2067A>T)
c.1001A>T (p.Lys334Ile)
c.1268A>T (p.Lys423Ile)
c.1226A>T (p.Lys409Ile)
c.1124A>T (p.Lys375Ile)
c.1088A>T (p.Lys363Ile)
c.929A>T (p.Lys310Ile)
1g.173909560T>CCA343773474SERPINC1c.1145A>G (p.Lys382Arg)
c.560-2067A>G (n.560-2067A>G)
c.1001A>G (p.Lys334Arg)
c.1268A>G (p.Lys423Arg)
c.1226A>G (p.Lys409Arg)
c.1124A>G (p.Lys375Arg)
c.1088A>G (p.Lys363Arg)
c.929A>G (p.Lys310Arg)
 gnomAD v4
1g.173909560T>GCA343773475SERPINC1c.1145A>C (p.Lys382Thr)
c.560-2067A>C (n.560-2067A>C)
c.1001A>C (p.Lys334Thr)
c.1268A>C (p.Lys423Thr)
c.1226A>C (p.Lys409Thr)
c.1124A>C (p.Lys375Thr)
c.1088A>C (p.Lys363Thr)
c.929A>C (p.Lys310Thr)
1g.173909561T>ACA343773476SERPINC1c.1144A>T (p.Lys382Ter)
c.560-2068A>T (n.560-2068A>T)
c.1000A>T (p.Lys334Ter)
c.1267A>T (p.Lys423Ter)
c.1225A>T (p.Lys409Ter)
c.1123A>T (p.Lys375Ter)
c.1087A>T (p.Lys363Ter)
c.928A>T (p.Lys310Ter)
1g.173909561T>CCA343773477SERPINC1c.1144A>G (p.Lys382Glu)
c.560-2068A>G (n.560-2068A>G)
c.1000A>G (p.Lys334Glu)
c.1267A>G (p.Lys423Glu)
c.1225A>G (p.Lys409Glu)
c.1123A>G (p.Lys375Glu)
c.1087A>G (p.Lys363Glu)
c.928A>G (p.Lys310Glu)
 gnomAD v4
1g.173909561T>GCA1251276SERPINC1c.1144A>C (p.Lys382Gln)
c.560-2068A>C (n.560-2068A>C)
c.1000A>C (p.Lys334Gln)
c.1267A>C (p.Lys423Gln)
c.1225A>C (p.Lys409Gln)
c.1123A>C (p.Lys375Gln)
c.1087A>C (p.Lys363Gln)
c.928A>C (p.Lys310Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.173909561T=CA1207936895SERPINC1c.1144A= (p.Lys382=)
c.560-2068A= (n.560-2068A=)
c.1000A= (p.Lys334=)
c.1267A= (p.Lys423=)
c.1225A= (p.Lys409=)
c.1123A= (p.Lys375=)
c.1087A= (p.Lys363=)
c.928A= (p.Lys310=)
1g.173909562G>ACA421942780SERPINC1c.1143C>T (p.Ser381=)
c.560-2069C>T (n.560-2069C>T)
c.999C>T (p.Ser333=)
c.1266C>T (p.Ser422=)
c.1224C>T (p.Ser408=)
c.1122C>T (p.Ser374=)
c.1086C>T (p.Ser362=)
c.927C>T (p.Ser309=)
1g.173909562G>CCA421942781SERPINC1c.1143C>G (p.Ser381=)
c.560-2069C>G (n.560-2069C>G)
c.999C>G (p.Ser333=)
c.1266C>G (p.Ser422=)
c.1224C>G (p.Ser408=)
c.1122C>G (p.Ser374=)
c.1086C>G (p.Ser362=)
c.927C>G (p.Ser309=)
1g.173909562G>TCA421942782SERPINC1c.1143C>A (p.Ser381=)
c.560-2069C>A (n.560-2069C>A)
c.999C>A (p.Ser333=)
c.1266C>A (p.Ser422=)
c.1224C>A (p.Ser408=)
c.1122C>A (p.Ser374=)
c.1086C>A (p.Ser362=)
c.927C>A (p.Ser309=)
1g.173909563G>ACA343773478SERPINC1c.1142C>T (p.Ser381Phe)
c.560-2070C>T (n.560-2070C>T)
c.998C>T (p.Ser333Phe)
c.1265C>T (p.Ser422Phe)
c.1223C>T (p.Ser408Phe)
c.1121C>T (p.Ser374Phe)
c.1085C>T (p.Ser362Phe)
c.926C>T (p.Ser309Phe)
1g.173909563G>CCA343773479SERPINC1c.1142C>G (p.Ser381Cys)
c.560-2070C>G (n.560-2070C>G)
c.998C>G (p.Ser333Cys)
c.1265C>G (p.Ser422Cys)
c.1223C>G (p.Ser408Cys)
c.1121C>G (p.Ser374Cys)
c.1085C>G (p.Ser362Cys)
c.926C>G (p.Ser309Cys)
 dbSNP COSMIC
1g.173909563G=CA1207936896SERPINC1c.1142C= (p.Ser381=)
c.560-2070C= (n.560-2070C=)
c.998C= (p.Ser333=)
c.1265C= (p.Ser422=)
c.1223C= (p.Ser408=)
c.1121C= (p.Ser374=)
c.1085C= (p.Ser362=)
c.926C= (p.Ser309=)
1g.173909563G>TCA343773480SERPINC1c.1142C>A (p.Ser381Tyr)
c.560-2070C>A (n.560-2070C>A)
c.998C>A (p.Ser333Tyr)
c.1265C>A (p.Ser422Tyr)
c.1223C>A (p.Ser408Tyr)
c.1121C>A (p.Ser374Tyr)
c.1085C>A (p.Ser362Tyr)
c.926C>A (p.Ser309Tyr)
 gnomAD v4
1g.173909564A=CA1141581216SERPINC1c.1141T= (p.Ser381=)
c.560-2071T= (n.560-2071T=)
c.997T= (p.Ser333=)
c.1264T= (p.Ser422=)
c.1222T= (p.Ser408=)
c.1120T= (p.Ser374=)
c.1084T= (p.Ser362=)
c.925T= (p.Ser309=)
1g.173909564A>CCA343773481SERPINC1c.1141T>G (p.Ser381Ala)
c.560-2071T>G (n.560-2071T>G)
c.997T>G (p.Ser333Ala)
c.1264T>G (p.Ser422Ala)
c.1222T>G (p.Ser408Ala)
c.1120T>G (p.Ser374Ala)
c.1084T>G (p.Ser362Ala)
c.925T>G (p.Ser309Ala)
1g.173909564A>GCA210783SERPINC1c.1141T>C (p.Ser381Pro)
c.560-2071T>C (n.560-2071T>C)
c.997T>C (p.Ser333Pro)
c.1264T>C (p.Ser422Pro)
c.1222T>C (p.Ser408Pro)
c.1120T>C (p.Ser374Pro)
c.1084T>C (p.Ser362Pro)
c.925T>C (p.Ser309Pro)
 ClinVar dbSNP
1g.173909564A>TCA343773482SERPINC1c.1141T>A (p.Ser381Thr)
c.560-2071T>A (n.560-2071T>A)
c.997T>A (p.Ser333Thr)
c.1264T>A (p.Ser422Thr)
c.1222T>A (p.Ser408Thr)
c.1120T>A (p.Ser374Thr)
c.1084T>A (p.Ser362Thr)
c.925T>A (p.Ser309Thr)
1g.173909565C>ACA343773483SERPINC1c.1140G>T (p.Lys380Asn)
c.560-2072G>T (n.560-2072G>T)
c.996G>T (p.Lys332Asn)
c.1263G>T (p.Lys421Asn)
c.1221G>T (p.Lys407Asn)
c.1119G>T (p.Lys373Asn)
c.1083G>T (p.Lys361Asn)
c.924G>T (p.Lys308Asn)
1g.173909565C=CA1207936897SERPINC1c.1140G= (p.Lys380=)
c.560-2072G= (n.560-2072G=)
c.996G= (p.Lys332=)
c.1263G= (p.Lys421=)
c.1221G= (p.Lys407=)
c.1119G= (p.Lys373=)
c.1083G= (p.Lys361=)
c.924G= (p.Lys308=)
1g.173909565C>GCA343773484SERPINC1c.1140G>C (p.Lys380Asn)
c.560-2072G>C (n.560-2072G>C)
c.996G>C (p.Lys332Asn)
c.1263G>C (p.Lys421Asn)
c.1221G>C (p.Lys407Asn)
c.1119G>C (p.Lys373Asn)
c.1083G>C (p.Lys361Asn)
c.924G>C (p.Lys308Asn)
1g.173909565C>TCA421942784SERPINC1c.1140G>A (p.Lys380=)
c.560-2072G>A (n.560-2072G>A)
c.996G>A (p.Lys332=)
c.1263G>A (p.Lys421=)
c.1221G>A (p.Lys407=)
c.1119G>A (p.Lys373=)
c.1083G>A (p.Lys361=)
c.924G>A (p.Lys308=)
 dbSNP gnomAD v3 gnomAD v4
1g.173909566T>ACA343773485SERPINC1c.1139A>T (p.Lys380Met)
c.560-2073A>T (n.560-2073A>T)
c.995A>T (p.Lys332Met)
c.1262A>T (p.Lys421Met)
c.1220A>T (p.Lys407Met)
c.1118A>T (p.Lys373Met)
c.1082A>T (p.Lys361Met)
c.923A>T (p.Lys308Met)
1g.173909566T>CCA343773486SERPINC1c.1139A>G (p.Lys380Arg)
c.560-2073A>G (n.560-2073A>G)
c.995A>G (p.Lys332Arg)
c.1262A>G (p.Lys421Arg)
c.1220A>G (p.Lys407Arg)
c.1118A>G (p.Lys373Arg)
c.1082A>G (p.Lys361Arg)
c.923A>G (p.Lys308Arg)
1g.173909566T>GCA343773487SERPINC1c.1139A>C (p.Lys380Thr)
c.560-2073A>C (n.560-2073A>C)
c.995A>C (p.Lys332Thr)
c.1262A>C (p.Lys421Thr)
c.1220A>C (p.Lys407Thr)
c.1118A>C (p.Lys373Thr)
c.1082A>C (p.Lys361Thr)
c.923A>C (p.Lys308Thr)
1g.173909567T>ACA343773488SERPINC1c.1138A>T (p.Lys380Ter)
c.560-2074A>T (n.560-2074A>T)
c.994A>T (p.Lys332Ter)
c.1261A>T (p.Lys421Ter)
c.1219A>T (p.Lys407Ter)
c.1117A>T (p.Lys373Ter)
c.1081A>T (p.Lys361Ter)
c.922A>T (p.Lys308Ter)
1g.173909567T>CCA343773489SERPINC1c.1138A>G (p.Lys380Glu)
c.560-2074A>G (n.560-2074A>G)
c.994A>G (p.Lys332Glu)
c.1261A>G (p.Lys421Glu)
c.1219A>G (p.Lys407Glu)
c.1117A>G (p.Lys373Glu)
c.1081A>G (p.Lys361Glu)
c.922A>G (p.Lys308Glu)
1g.173909567T>GCA343773490SERPINC1c.1138A>C (p.Lys380Gln)
c.560-2074A>C (n.560-2074A>C)
c.994A>C (p.Lys332Gln)
c.1261A>C (p.Lys421Gln)
c.1219A>C (p.Lys407Gln)
c.1117A>C (p.Lys373Gln)
c.1081A>C (p.Lys361Gln)
c.922A>C (p.Lys308Gln)
1g.173909568T>ACA343773491SERPINC1c.1137A>T (p.Glu379Asp)
c.560-2075A>T (n.560-2075A>T)
c.993A>T (p.Glu331Asp)
c.1260A>T (p.Glu420Asp)
c.1218A>T (p.Glu406Asp)
c.1116A>T (p.Glu372Asp)
c.1080A>T (p.Glu360Asp)
c.921A>T (p.Glu307Asp)
1g.173909568T>CCA1251277SERPINC1c.1137A>G (p.Glu379=)
c.560-2075A>G (n.560-2075A>G)
c.993A>G (p.Glu331=)
c.1260A>G (p.Glu420=)
c.1218A>G (p.Glu406=)
c.1116A>G (p.Glu372=)
c.1080A>G (p.Glu360=)
c.921A>G (p.Glu307=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.173909568T>GCA343773492SERPINC1c.1137A>C (p.Glu379Asp)
c.560-2075A>C (n.560-2075A>C)
c.993A>C (p.Glu331Asp)
c.1260A>C (p.Glu420Asp)
c.1218A>C (p.Glu406Asp)
c.1116A>C (p.Glu372Asp)
c.1080A>C (p.Glu360Asp)
c.921A>C (p.Glu307Asp)
1g.173909568T=CA1148245798SERPINC1c.1137A= (p.Glu379=)
c.560-2075A= (n.560-2075A=)
c.993A= (p.Glu331=)
c.1260A= (p.Glu420=)
c.1218A= (p.Glu406=)
c.1116A= (p.Glu372=)
c.1080A= (p.Glu360=)
c.921A= (p.Glu307=)
1g.173909569T>ACA343773494SERPINC1c.1136A>T (p.Glu379Val)
c.560-2076A>T (n.560-2076A>T)
c.992A>T (p.Glu331Val)
c.1259A>T (p.Glu420Val)
c.1217A>T (p.Glu406Val)
c.1115A>T (p.Glu372Val)
c.1079A>T (p.Glu360Val)
c.920A>T (p.Glu307Val)
1g.173909569T>CCA343773495SERPINC1c.1136A>G (p.Glu379Gly)
c.560-2076A>G (n.560-2076A>G)
c.992A>G (p.Glu331Gly)
c.1259A>G (p.Glu420Gly)
c.1217A>G (p.Glu406Gly)
c.1115A>G (p.Glu372Gly)
c.1079A>G (p.Glu360Gly)
c.920A>G (p.Glu307Gly)
1g.173909569T>GCA343773493SERPINC1c.1136A>C (p.Glu379Ala)
c.560-2076A>C (n.560-2076A>C)
c.992A>C (p.Glu331Ala)
c.1259A>C (p.Glu420Ala)
c.1217A>C (p.Glu406Ala)
c.1115A>C (p.Glu372Ala)
c.1079A>C (p.Glu360Ala)
c.920A>C (p.Glu307Ala)
1g.173909570C>ACA343773496SERPINC1c.1135G>T (p.Glu379Ter)
c.560-2077G>T (n.560-2077G>T)
c.991G>T (p.Glu331Ter)
c.1258G>T (p.Glu420Ter)
c.1216G>T (p.Glu406Ter)
c.1114G>T (p.Glu372Ter)
c.1078G>T (p.Glu360Ter)
c.919G>T (p.Glu307Ter)
1g.173909570C=CA1207936898SERPINC1c.1135G= (p.Glu379=)
c.560-2077G= (n.560-2077G=)
c.991G= (p.Glu331=)
c.1258G= (p.Glu420=)
c.1216G= (p.Glu406=)
c.1114G= (p.Glu372=)
c.1078G= (p.Glu360=)
c.919G= (p.Glu307=)
1g.173909570C>GCA343773497SERPINC1c.1135G>C (p.Glu379Gln)
c.560-2077G>C (n.560-2077G>C)
c.991G>C (p.Glu331Gln)
c.1258G>C (p.Glu420Gln)
c.1216G>C (p.Glu406Gln)
c.1114G>C (p.Glu372Gln)
c.1078G>C (p.Glu360Gln)
c.919G>C (p.Glu307Gln)
 dbSNP
1g.173909570C>TCA343773498SERPINC1c.1135G>A (p.Glu379Lys)
c.560-2077G>A (n.560-2077G>A)
c.991G>A (p.Glu331Lys)
c.1258G>A (p.Glu420Lys)
c.1216G>A (p.Glu406Lys)
c.1114G>A (p.Glu372Lys)
c.1078G>A (p.Glu360Lys)
c.919G>A (p.Glu307Lys)
1g.173909571A=CA1207936899SERPINC1c.1134T= (p.Pro378=)
c.560-2078T= (n.560-2078T=)
c.990T= (p.Pro330=)
c.1257T= (p.Pro419=)
c.1215T= (p.Pro405=)
c.1113T= (p.Pro371=)
c.1077T= (p.Pro359=)
c.918T= (p.Pro306=)
1g.173909571A>CCA32780206SERPINC1c.1134T>G (p.Pro378=)
c.560-2078T>G (n.560-2078T>G)
c.990T>G (p.Pro330=)
c.1257T>G (p.Pro419=)
c.1215T>G (p.Pro405=)
c.1113T>G (p.Pro371=)
c.1077T>G (p.Pro359=)
c.918T>G (p.Pro306=)
 dbSNP
1g.173909571A>GCA421942789SERPINC1c.1134T>C (p.Pro378=)
c.560-2078T>C (n.560-2078T>C)
c.990T>C (p.Pro330=)
c.1257T>C (p.Pro419=)
c.1215T>C (p.Pro405=)
c.1113T>C (p.Pro371=)
c.1077T>C (p.Pro359=)
c.918T>C (p.Pro306=)
 dbSNP
1g.173909571A>TCA421942790SERPINC1c.1134T>A (p.Pro378=)
c.560-2078T>A (n.560-2078T>A)
c.990T>A (p.Pro330=)
c.1257T>A (p.Pro419=)
c.1215T>A (p.Pro405=)
c.1113T>A (p.Pro371=)
c.1077T>A (p.Pro359=)
c.918T>A (p.Pro306=)
1g.173909572G>ACA343773499SERPINC1c.1133C>T (p.Pro378Leu)
c.560-2079C>T (n.560-2079C>T)
c.989C>T (p.Pro330Leu)
c.1256C>T (p.Pro419Leu)
c.1214C>T (p.Pro405Leu)
c.1112C>T (p.Pro371Leu)
c.1076C>T (p.Pro359Leu)
c.917C>T (p.Pro306Leu)
1g.173909572G>CCA343773500SERPINC1c.1133C>G (p.Pro378Arg)
c.560-2079C>G (n.560-2079C>G)
c.989C>G (p.Pro330Arg)
c.1256C>G (p.Pro419Arg)
c.1214C>G (p.Pro405Arg)
c.1112C>G (p.Pro371Arg)
c.1076C>G (p.Pro359Arg)
c.917C>G (p.Pro306Arg)
1g.173909572G>TCA343773501SERPINC1c.1133C>A (p.Pro378His)
c.560-2079C>A (n.560-2079C>A)
c.989C>A (p.Pro330His)
c.1256C>A (p.Pro419His)
c.1214C>A (p.Pro405His)
c.1112C>A (p.Pro371His)
c.1076C>A (p.Pro359His)
c.917C>A (p.Pro306His)
1g.173909573G>ACA343773504SERPINC1c.1132C>T (p.Pro378Ser)
c.560-2080C>T (n.560-2080C>T)
c.988C>T (p.Pro330Ser)
c.1255C>T (p.Pro419Ser)
c.1213C>T (p.Pro405Ser)
c.1111C>T (p.Pro371Ser)
c.1075C>T (p.Pro359Ser)
c.916C>T (p.Pro306Ser)
1g.173909573G>CCA343773502SERPINC1c.1132C>G (p.Pro378Ala)
c.560-2080C>G (n.560-2080C>G)
c.988C>G (p.Pro330Ala)
c.1255C>G (p.Pro419Ala)
c.1213C>G (p.Pro405Ala)
c.1111C>G (p.Pro371Ala)
c.1075C>G (p.Pro359Ala)
c.916C>G (p.Pro306Ala)
1g.173909573G>TCA343773503SERPINC1c.1132C>A (p.Pro378Thr)
c.560-2080C>A (n.560-2080C>A)
c.988C>A (p.Pro330Thr)
c.1255C>A (p.Pro419Thr)
c.1213C>A (p.Pro405Thr)
c.1111C>A (p.Pro371Thr)
c.1075C>A (p.Pro359Thr)
c.916C>A (p.Pro306Thr)
 gnomAD v4
1g.173909574G>ACA421942792SERPINC1c.1131C>T (p.Ser377=)
c.560-2081C>T (n.560-2081C>T)
c.987C>T (p.Ser329=)
c.1254C>T (p.Ser418=)
c.1212C>T (p.Ser404=)
c.1110C>T (p.Ser370=)
c.1074C>T (p.Ser358=)
c.915C>T (p.Ser305=)
1g.173909574G>CCA343773505SERPINC1c.1131C>G (p.Ser377Arg)
c.560-2081C>G (n.560-2081C>G)
c.987C>G (p.Ser329Arg)
c.1254C>G (p.Ser418Arg)
c.1212C>G (p.Ser404Arg)
c.1110C>G (p.Ser370Arg)
c.1074C>G (p.Ser358Arg)
c.915C>G (p.Ser305Arg)
1g.173909574G>TCA343773506SERPINC1c.1131C>A (p.Ser377Arg)
c.560-2081C>A (n.560-2081C>A)
c.987C>A (p.Ser329Arg)
c.1254C>A (p.Ser418Arg)
c.1212C>A (p.Ser404Arg)
c.1110C>A (p.Ser370Arg)
c.1074C>A (p.Ser358Arg)
c.915C>A (p.Ser305Arg)
 gnomAD v4
1g.173909575C>ACA343773507SERPINC1c.1130G>T (p.Ser377Ile)
c.560-2082G>T (n.560-2082G>T)
c.986G>T (p.Ser329Ile)
c.1253G>T (p.Ser418Ile)
c.1211G>T (p.Ser404Ile)
c.1109G>T (p.Ser370Ile)
c.1073G>T (p.Ser358Ile)
c.914G>T (p.Ser305Ile)
1g.173909575C>GCA343773508SERPINC1c.1130G>C (p.Ser377Thr)
c.560-2082G>C (n.560-2082G>C)
c.986G>C (p.Ser329Thr)
c.1253G>C (p.Ser418Thr)
c.1211G>C (p.Ser404Thr)
c.1109G>C (p.Ser370Thr)
c.1073G>C (p.Ser358Thr)
c.914G>C (p.Ser305Thr)
1g.173909575C>TCA343773509SERPINC1c.1130G>A (p.Ser377Asn)
c.560-2082G>A (n.560-2082G>A)
c.986G>A (p.Ser329Asn)
c.1253G>A (p.Ser418Asn)
c.1211G>A (p.Ser404Asn)
c.1109G>A (p.Ser370Asn)
c.1073G>A (p.Ser358Asn)
c.914G>A (p.Ser305Asn)
 gnomAD v4
1g.173909576T>ACA343773510SERPINC1c.1129A>T (p.Ser377Cys)
c.560-2083A>T (n.560-2083A>T)
c.985A>T (p.Ser329Cys)
c.1252A>T (p.Ser418Cys)
c.1210A>T (p.Ser404Cys)
c.1108A>T (p.Ser370Cys)
c.1072A>T (p.Ser358Cys)
c.913A>T (p.Ser305Cys)
1g.173909576T>CCA343773512SERPINC1c.1129A>G (p.Ser377Gly)
c.560-2083A>G (n.560-2083A>G)
c.985A>G (p.Ser329Gly)
c.1252A>G (p.Ser418Gly)
c.1210A>G (p.Ser404Gly)
c.1108A>G (p.Ser370Gly)
c.1072A>G (p.Ser358Gly)
c.913A>G (p.Ser305Gly)
 gnomAD v4
1g.173909576T>GCA343773511SERPINC1c.1129A>C (p.Ser377Arg)
c.560-2083A>C (n.560-2083A>C)
c.985A>C (p.Ser329Arg)
c.1252A>C (p.Ser418Arg)
c.1210A>C (p.Ser404Arg)
c.1108A>C (p.Ser370Arg)
c.1072A>C (p.Ser358Arg)
c.913A>C (p.Ser305Arg)
1g.173909577G>ACA421942794SERPINC1c.1128C>T (p.Phe376=)
c.560-2084C>T (n.560-2084C>T)
c.984C>T (p.Phe328=)
c.1251C>T (p.Phe417=)
c.1209C>T (p.Phe403=)
c.1107C>T (p.Phe369=)
c.1071C>T (p.Phe357=)
c.912C>T (p.Phe304=)
 gnomAD v4
1g.173909577G>CCA343773513SERPINC1c.1128C>G (p.Phe376Leu)
c.560-2084C>G (n.560-2084C>G)
c.984C>G (p.Phe328Leu)
c.1251C>G (p.Phe417Leu)
c.1209C>G (p.Phe403Leu)
c.1107C>G (p.Phe369Leu)
c.1071C>G (p.Phe357Leu)
c.912C>G (p.Phe304Leu)
1g.173909577G>TCA343773514SERPINC1c.1128C>A (p.Phe376Leu)
c.560-2084C>A (n.560-2084C>A)
c.984C>A (p.Phe328Leu)
c.1251C>A (p.Phe417Leu)
c.1209C>A (p.Phe403Leu)
c.1107C>A (p.Phe369Leu)
c.1071C>A (p.Phe357Leu)
c.912C>A (p.Phe304Leu)
1g.173909578A>CCA343773515SERPINC1c.1127T>G (p.Phe376Cys)
c.560-2085T>G (n.560-2085T>G)
c.983T>G (p.Phe328Cys)
c.1250T>G (p.Phe417Cys)
c.1208T>G (p.Phe403Cys)
c.1106T>G (p.Phe369Cys)
c.1070T>G (p.Phe357Cys)
c.911T>G (p.Phe304Cys)
1g.173909578A>GCA343773516SERPINC1c.1127T>C (p.Phe376Ser)
c.560-2085T>C (n.560-2085T>C)
c.983T>C (p.Phe328Ser)
c.1250T>C (p.Phe417Ser)
c.1208T>C (p.Phe403Ser)
c.1106T>C (p.Phe369Ser)
c.1070T>C (p.Phe357Ser)
c.911T>C (p.Phe304Ser)
1g.173909578A>TCA343773517SERPINC1c.1127T>A (p.Phe376Tyr)
c.560-2085T>A (n.560-2085T>A)
c.983T>A (p.Phe328Tyr)
c.1250T>A (p.Phe417Tyr)
c.1208T>A (p.Phe403Tyr)
c.1106T>A (p.Phe369Tyr)
c.1070T>A (p.Phe357Tyr)
c.911T>A (p.Phe304Tyr)
1g.173909579A>CCA343773518SERPINC1c.1126T>G (p.Phe376Val)
c.560-2086T>G (n.560-2086T>G)
c.982T>G (p.Phe328Val)
c.1249T>G (p.Phe417Val)
c.1207T>G (p.Phe403Val)
c.1105T>G (p.Phe369Val)
c.1069T>G (p.Phe357Val)
c.910T>G (p.Phe304Val)
1g.173909579A>GCA343773519SERPINC1c.1126T>C (p.Phe376Leu)
c.560-2086T>C (n.560-2086T>C)
c.982T>C (p.Phe328Leu)
c.1249T>C (p.Phe417Leu)
c.1207T>C (p.Phe403Leu)
c.1105T>C (p.Phe369Leu)
c.1069T>C (p.Phe357Leu)
c.910T>C (p.Phe304Leu)
 gnomAD v4
1g.173909579A>TCA343773520SERPINC1c.1126T>A (p.Phe376Ile)
c.560-2086T>A (n.560-2086T>A)
c.982T>A (p.Phe328Ile)
c.1249T>A (p.Phe417Ile)
c.1207T>A (p.Phe403Ile)
c.1105T>A (p.Phe369Ile)
c.1069T>A (p.Phe357Ile)
c.910T>A (p.Phe304Ile)
1g.173909580C>ACA421942795SERPINC1c.1125G>T (p.Leu375=)
c.560-2087G>T (n.560-2087G>T)
c.981G>T (p.Leu327=)
c.1248G>T (p.Leu416=)
c.1206G>T (p.Leu402=)
c.1104G>T (p.Leu368=)
c.1068G>T (p.Leu356=)
c.909G>T (p.Leu303=)
 gnomAD v4
1g.173909580C>GCA421942797SERPINC1c.1125G>C (p.Leu375=)
c.560-2087G>C (n.560-2087G>C)
c.981G>C (p.Leu327=)
c.1248G>C (p.Leu416=)
c.1206G>C (p.Leu402=)
c.1104G>C (p.Leu368=)
c.1068G>C (p.Leu356=)
c.909G>C (p.Leu303=)
1g.173909580C>TCA421942796SERPINC1c.1125G>A (p.Leu375=)
c.560-2087G>A (n.560-2087G>A)
c.981G>A (p.Leu327=)
c.1248G>A (p.Leu416=)
c.1206G>A (p.Leu402=)
c.1104G>A (p.Leu368=)
c.1068G>A (p.Leu356=)
c.909G>A (p.Leu303=)
1g.173909581A>CCA343773521SERPINC1c.1124T>G (p.Leu375Arg)
c.560-2088T>G (n.560-2088T>G)
c.980T>G (p.Leu327Arg)
c.1247T>G (p.Leu416Arg)
c.1205T>G (p.Leu402Arg)
c.1103T>G (p.Leu368Arg)
c.1067T>G (p.Leu356Arg)
c.908T>G (p.Leu303Arg)
1g.173909581A>GCA343773522SERPINC1c.1124T>C (p.Leu375Pro)
c.560-2088T>C (n.560-2088T>C)
c.980T>C (p.Leu327Pro)
c.1247T>C (p.Leu416Pro)
c.1205T>C (p.Leu402Pro)
c.1103T>C (p.Leu368Pro)
c.1067T>C (p.Leu356Pro)
c.908T>C (p.Leu303Pro)
1g.173909581A>TCA343773523SERPINC1c.1124T>A (p.Leu375Gln)
c.560-2088T>A (n.560-2088T>A)
c.980T>A (p.Leu327Gln)
c.1247T>A (p.Leu416Gln)
c.1205T>A (p.Leu402Gln)
c.1103T>A (p.Leu368Gln)
c.1067T>A (p.Leu356Gln)
c.908T>A (p.Leu303Gln)
1g.173909582G>ACA421942802SERPINC1c.1123C>T (p.Leu375=)
c.560-2089C>T (n.560-2089C>T)
c.979C>T (p.Leu327=)
c.1246C>T (p.Leu416=)
c.1204C>T (p.Leu402=)
c.1102C>T (p.Leu368=)
c.1066C>T (p.Leu356=)
c.907C>T (p.Leu303=)
1g.173909582G>CCA343773524SERPINC1c.1123C>G (p.Leu375Val)
c.560-2089C>G (n.560-2089C>G)
c.979C>G (p.Leu327Val)
c.1246C>G (p.Leu416Val)
c.1204C>G (p.Leu402Val)
c.1102C>G (p.Leu368Val)
c.1066C>G (p.Leu356Val)
c.907C>G (p.Leu303Val)
1g.173909582G=CA1142276446SERPINC1c.1123C= (p.Leu375=)
c.560-2089C= (n.560-2089C=)
c.979C= (p.Leu327=)
c.1246C= (p.Leu416=)
c.1204C= (p.Leu402=)
c.1102C= (p.Leu368=)
c.1066C= (p.Leu356=)
c.907C= (p.Leu303=)
1g.173909582G>TCA1251278SERPINC1c.1123C>A (p.Leu375Met)
c.560-2089C>A (n.560-2089C>A)
c.979C>A (p.Leu327Met)
c.1246C>A (p.Leu416Met)
c.1204C>A (p.Leu402Met)
c.1102C>A (p.Leu368Met)
c.1066C>A (p.Leu356Met)
c.907C>A (p.Leu303Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
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)
1g.173909597T=CA1207936904SERPINC1c.1108A= (p.Met370=)
c.560-2104A= (n.560-2104A=)
c.964A= (p.Met322=)
c.1231A= (p.Met411=)
c.1189A= (p.Met397=)
c.1087A= (p.Met363=)
c.1051A= (p.Met351=)
c.892A= (p.Met298=)
1g.173909598G>ACA421942820SERPINC1c.1107C>T (p.Asp369=)
c.560-2105C>T (n.560-2105C>T)
c.963C>T (p.Asp321=)
c.1230C>T (p.Asp410=)
c.1188C>T (p.Asp396=)
c.1086C>T (p.Asp362=)
c.1050C>T (p.Asp350=)
c.891C>T (p.Asp297=)
1g.173909598G>CCA343773559SERPINC1c.1107C>G (p.Asp369Glu)
c.560-2105C>G (n.560-2105C>G)
c.963C>G (p.Asp321Glu)
c.1230C>G (p.Asp410Glu)
c.1188C>G (p.Asp396Glu)
c.1086C>G (p.Asp362Glu)
c.1050C>G (p.Asp350Glu)
c.891C>G (p.Asp297Glu)
1g.173909598G>TCA343773560SERPINC1c.1107C>A (p.Asp369Glu)
c.560-2105C>A (n.560-2105C>A)
c.963C>A (p.Asp321Glu)
c.1230C>A (p.Asp410Glu)
c.1188C>A (p.Asp396Glu)
c.1086C>A (p.Asp362Glu)
c.1050C>A (p.Asp350Glu)
c.891C>A (p.Asp297Glu)
 COSMIC
1g.173909599T>ACA343773561SERPINC1c.1106A>T (p.Asp369Val)
c.560-2106A>T (n.560-2106A>T)
c.962A>T (p.Asp321Val)
c.1229A>T (p.Asp410Val)
c.1187A>T (p.Asp396Val)
c.1085A>T (p.Asp362Val)
c.1049A>T (p.Asp350Val)
c.890A>T (p.Asp297Val)
1g.173909599T>CCA343773562SERPINC1c.1106A>G (p.Asp369Gly)
c.560-2106A>G (n.560-2106A>G)
c.962A>G (p.Asp321Gly)
c.1229A>G (p.Asp410Gly)
c.1187A>G (p.Asp396Gly)
c.1085A>G (p.Asp362Gly)
c.1049A>G (p.Asp350Gly)
c.890A>G (p.Asp297Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.173909599T>GCA343773563SERPINC1c.1106A>C (p.Asp369Ala)
c.560-2106A>C (n.560-2106A>C)
c.962A>C (p.Asp321Ala)
c.1229A>C (p.Asp410Ala)
c.1187A>C (p.Asp396Ala)
c.1085A>C (p.Asp362Ala)
c.1049A>C (p.Asp350Ala)
c.890A>C (p.Asp297Ala)
1g.173909599T=CA1207936905SERPINC1c.1106A= (p.Asp369=)
c.560-2106A= (n.560-2106A=)
c.962A= (p.Asp321=)
c.1229A= (p.Asp410=)
c.1187A= (p.Asp396=)
c.1085A= (p.Asp362=)
c.1049A= (p.Asp350=)
c.890A= (p.Asp297=)
1g.173909600C>ACA343773564SERPINC1c.1105G>T (p.Asp369Tyr)
c.560-2107G>T (n.560-2107G>T)
c.961G>T (p.Asp321Tyr)
c.1228G>T (p.Asp410Tyr)
c.1186G>T (p.Asp396Tyr)
c.1084G>T (p.Asp362Tyr)
c.1048G>T (p.Asp350Tyr)
c.889G>T (p.Asp297Tyr)
 COSMIC
1g.173909600C=CA1207936906SERPINC1c.1105G= (p.Asp369=)
c.560-2107G= (n.560-2107G=)
c.961G= (p.Asp321=)
c.1228G= (p.Asp410=)
c.1186G= (p.Asp396=)
c.1084G= (p.Asp362=)
c.1048G= (p.Asp350=)
c.889G= (p.Asp297=)
1g.173909600C>GCA343773565SERPINC1c.1105G>C (p.Asp369His)
c.560-2107G>C (n.560-2107G>C)
c.961G>C (p.Asp321His)
c.1228G>C (p.Asp410His)
c.1186G>C (p.Asp396His)
c.1084G>C (p.Asp362His)
c.1048G>C (p.Asp350His)
c.889G>C (p.Asp297His)
1g.173909600C>TCA1251280SERPINC1c.1105G>A (p.Asp369Asn)
c.560-2107G>A (n.560-2107G>A)
c.961G>A (p.Asp321Asn)
c.1228G>A (p.Asp410Asn)
c.1186G>A (p.Asp396Asn)
c.1084G>A (p.Asp362Asn)
c.1048G>A (p.Asp350Asn)
c.889G>A (p.Asp297Asn)
 dbSNP ExAC gnomAD v2
1g.173909601T>ACA343773566SERPINC1c.1104A>T (p.Gln368His)
c.560-2108A>T (n.560-2108A>T)
c.960A>T (p.Gln320His)
c.1227A>T (p.Gln409His)
c.1185A>T (p.Gln395His)
c.1083A>T (p.Gln361His)
c.1047A>T (p.Gln349His)
c.888A>T (p.Gln296His)
1g.173909601T>CCA421942822SERPINC1c.1104A>G (p.Gln368=)
c.560-2108A>G (n.560-2108A>G)
c.960A>G (p.Gln320=)
c.1227A>G (p.Gln409=)
c.1185A>G (p.Gln395=)
c.1083A>G (p.Gln361=)
c.1047A>G (p.Gln349=)
c.888A>G (p.Gln296=)
1g.173909601T>GCA343773567SERPINC1c.1104A>C (p.Gln368His)
c.560-2108A>C (n.560-2108A>C)
c.960A>C (p.Gln320His)
c.1227A>C (p.Gln409His)
c.1185A>C (p.Gln395His)
c.1083A>C (p.Gln361His)
c.1047A>C (p.Gln349His)
c.888A>C (p.Gln296His)
1g.173909602T>ACA343773568SERPINC1c.1103A>T (p.Gln368Leu)
c.560-2109A>T (n.560-2109A>T)
c.959A>T (p.Gln320Leu)
c.1226A>T (p.Gln409Leu)
c.1184A>T (p.Gln395Leu)
c.1082A>T (p.Gln361Leu)
c.1046A>T (p.Gln349Leu)
c.887A>T (p.Gln296Leu)
1g.173909602T>CCA343773569SERPINC1c.1103A>G (p.Gln368Arg)
c.560-2109A>G (n.560-2109A>G)
c.959A>G (p.Gln320Arg)
c.1226A>G (p.Gln409Arg)
c.1184A>G (p.Gln395Arg)
c.1082A>G (p.Gln361Arg)
c.1046A>G (p.Gln349Arg)
c.887A>G (p.Gln296Arg)
1g.173909602T>GCA343773570SERPINC1c.1103A>C (p.Gln368Pro)
c.560-2109A>C (n.560-2109A>C)
c.959A>C (p.Gln320Pro)
c.1226A>C (p.Gln409Pro)
c.1184A>C (p.Gln395Pro)
c.1082A>C (p.Gln361Pro)
c.1046A>C (p.Gln349Pro)
c.887A>C (p.Gln296Pro)
1g.173909603delCA2739292067SERPINC1c.1102del (p.Gln368LysfsTer?)
c.560-2110del (n.560-2110del)
c.958del (p.Gln320LysfsTer?)
c.1225del (p.Gln409LysfsTer?)
c.1183del (p.Gln395LysfsTer?)
c.1081del (p.Gln361LysfsTer?)
c.1045del (p.Gln349LysfsTer?)
c.886del (p.Gln296LysfsTer?)
1g.173909603G>ACA343773573SERPINC1c.1102C>T (p.Gln368Ter)
c.560-2110C>T (n.560-2110C>T)
c.958C>T (p.Gln320Ter)
c.1225C>T (p.Gln409Ter)
c.1183C>T (p.Gln395Ter)
c.1081C>T (p.Gln361Ter)
c.1045C>T (p.Gln349Ter)
c.886C>T (p.Gln296Ter)
 dbSNP
1g.173909603G>CCA343773572SERPINC1c.1102C>G (p.Gln368Glu)
c.560-2110C>G (n.560-2110C>G)
c.958C>G (p.Gln320Glu)
c.1225C>G (p.Gln409Glu)
c.1183C>G (p.Gln395Glu)
c.1081C>G (p.Gln361Glu)
c.1045C>G (p.Gln349Glu)
c.886C>G (p.Gln296Glu)
 gnomAD v4
1g.173909603G=CA1207936907SERPINC1c.1102C= (p.Gln368=)
c.560-2110C= (n.560-2110C=)
c.958C= (p.Gln320=)
c.1225C= (p.Gln409=)
c.1183C= (p.Gln395=)
c.1081C= (p.Gln361=)
c.1045C= (p.Gln349=)
c.886C= (p.Gln296=)
1g.173909603G>TCA343773571SERPINC1c.1102C>A (p.Gln368Lys)
c.560-2110C>A (n.560-2110C>A)
c.958C>A (p.Gln320Lys)
c.1225C>A (p.Gln409Lys)
c.1183C>A (p.Gln395Lys)
c.1081C>A (p.Gln361Lys)
c.1045C>A (p.Gln349Lys)
c.886C>A (p.Gln296Lys)
1g.173909604C>ACA421942825SERPINC1c.1101G>T (p.Leu367=)
c.560-2111G>T (n.560-2111G>T)
c.957G>T (p.Leu319=)
c.1224G>T (p.Leu408=)
c.1182G>T (p.Leu394=)
c.1080G>T (p.Leu360=)
c.1044G>T (p.Leu348=)
c.885G>T (p.Leu295=)
1g.173909604C=CA1207936908SERPINC1c.1101G= (p.Leu367=)
c.560-2111G= (n.560-2111G=)
c.957G= (p.Leu319=)
c.1224G= (p.Leu408=)
c.1182G= (p.Leu394=)
c.1080G= (p.Leu360=)
c.1044G= (p.Leu348=)
c.885G= (p.Leu295=)
1g.173909604C>GCA421942826SERPINC1c.1101G>C (p.Leu367=)
c.560-2111G>C (n.560-2111G>C)
c.957G>C (p.Leu319=)
c.1224G>C (p.Leu408=)
c.1182G>C (p.Leu394=)
c.1080G>C (p.Leu360=)
c.1044G>C (p.Leu348=)
c.885G>C (p.Leu295=)
 dbSNP
1g.173909604C>TCA421942827SERPINC1c.1101G>A (p.Leu367=)
c.560-2111G>A (n.560-2111G>A)
c.957G>A (p.Leu319=)
c.1224G>A (p.Leu408=)
c.1182G>A (p.Leu394=)
c.1080G>A (p.Leu360=)
c.1044G>A (p.Leu348=)
c.885G>A (p.Leu295=)
1g.173909605A>CCA343773574SERPINC1c.1100T>G (p.Leu367Arg)
c.560-2112T>G (n.560-2112T>G)
c.956T>G (p.Leu319Arg)
c.1223T>G (p.Leu408Arg)
c.1181T>G (p.Leu394Arg)
c.1079T>G (p.Leu360Arg)
c.1043T>G (p.Leu348Arg)
c.884T>G (p.Leu295Arg)
1g.173909605A>GCA343773575SERPINC1c.1100T>C (p.Leu367Pro)
c.560-2112T>C (n.560-2112T>C)
c.956T>C (p.Leu319Pro)
c.1223T>C (p.Leu408Pro)
c.1181T>C (p.Leu394Pro)
c.1079T>C (p.Leu360Pro)
c.1043T>C (p.Leu348Pro)
c.884T>C (p.Leu295Pro)
1g.173909605A>TCA343773576SERPINC1c.1100T>A (p.Leu367Gln)
c.560-2112T>A (n.560-2112T>A)
c.956T>A (p.Leu319Gln)
c.1223T>A (p.Leu408Gln)
c.1181T>A (p.Leu394Gln)
c.1079T>A (p.Leu360Gln)
c.1043T>A (p.Leu348Gln)
c.884T>A (p.Leu295Gln)
1g.173909606G>ACA421942828SERPINC1c.1099C>T (p.Leu367=)
c.560-2113C>T (n.560-2113C>T)
c.955C>T (p.Leu319=)
c.1222C>T (p.Leu408=)
c.1180C>T (p.Leu394=)
c.1078C>T (p.Leu360=)
c.1042C>T (p.Leu348=)
c.883C>T (p.Leu295=)
1g.173909606G>CCA343773577SERPINC1c.1099C>G (p.Leu367Val)
c.560-2113C>G (n.560-2113C>G)
c.955C>G (p.Leu319Val)
c.1222C>G (p.Leu408Val)
c.1180C>G (p.Leu394Val)
c.1078C>G (p.Leu360Val)
c.1042C>G (p.Leu348Val)
c.883C>G (p.Leu295Val)
 ClinVar dbSNP
1g.173909606G=CA1207936909SERPINC1c.1099C= (p.Leu367=)
c.560-2113C= (n.560-2113C=)
c.955C= (p.Leu319=)
c.1222C= (p.Leu408=)
c.1180C= (p.Leu394=)
c.1078C= (p.Leu360=)
c.1042C= (p.Leu348=)
c.883C= (p.Leu295=)
1g.173909606G>TCA343773578SERPINC1c.1099C>A (p.Leu367Met)
c.560-2113C>A (n.560-2113C>A)
c.955C>A (p.Leu319Met)
c.1222C>A (p.Leu408Met)
c.1180C>A (p.Leu394Met)
c.1078C>A (p.Leu360Met)
c.1042C>A (p.Leu348Met)
c.883C>A (p.Leu295Met)
1g.173909607C>ACA343773579SERPINC1c.1098G>T (p.Gln366His)
c.560-2114G>T (n.560-2114G>T)
c.954G>T (p.Gln318His)
c.1221G>T (p.Gln407His)
c.1179G>T (p.Gln393His)
c.1077G>T (p.Gln359His)
c.1041G>T (p.Gln347His)
c.882G>T (p.Gln294His)
 gnomAD v4 COSMIC
1g.173909607C>GCA343773580SERPINC1c.1098G>C (p.Gln366His)
c.560-2114G>C (n.560-2114G>C)
c.954G>C (p.Gln318His)
c.1221G>C (p.Gln407His)
c.1179G>C (p.Gln393His)
c.1077G>C (p.Gln359His)
c.1041G>C (p.Gln347His)
c.882G>C (p.Gln294His)
1g.173909607C>TCA421942829SERPINC1c.1098G>A (p.Gln366=)
c.560-2114G>A (n.560-2114G>A)
c.954G>A (p.Gln318=)
c.1221G>A (p.Gln407=)
c.1179G>A (p.Gln393=)
c.1077G>A (p.Gln359=)
c.1041G>A (p.Gln347=)
c.882G>A (p.Gln294=)
1g.173909608T>ACA343773581SERPINC1c.1097A>T (p.Gln366Leu)
c.560-2115A>T (n.560-2115A>T)
c.953A>T (p.Gln318Leu)
c.1220A>T (p.Gln407Leu)
c.1178A>T (p.Gln393Leu)
c.1076A>T (p.Gln359Leu)
c.1040A>T (p.Gln347Leu)
c.881A>T (p.Gln294Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.173909608T>CCA343773582SERPINC1c.1097A>G (p.Gln366Arg)
c.560-2115A>G (n.560-2115A>G)
c.953A>G (p.Gln318Arg)
c.1220A>G (p.Gln407Arg)
c.1178A>G (p.Gln393Arg)
c.1076A>G (p.Gln359Arg)
c.1040A>G (p.Gln347Arg)
c.881A>G (p.Gln294Arg)
1g.173909608T>GCA343773583SERPINC1c.1097A>C (p.Gln366Pro)
c.560-2115A>C (n.560-2115A>C)
c.953A>C (p.Gln318Pro)
c.1220A>C (p.Gln407Pro)
c.1178A>C (p.Gln393Pro)
c.1076A>C (p.Gln359Pro)
c.1040A>C (p.Gln347Pro)
c.881A>C (p.Gln294Pro)
1g.173909608T=CA1207936910SERPINC1c.1097A= (p.Gln366=)
c.560-2115A= (n.560-2115A=)
c.953A= (p.Gln318=)
c.1220A= (p.Gln407=)
c.1178A= (p.Gln393=)
c.1076A= (p.Gln359=)
c.1040A= (p.Gln347=)
c.881A= (p.Gln294=)
1g.173909609G>ACA343773584SERPINC1c.1096C>T (p.Gln366Ter)
c.560-2116C>T (n.560-2116C>T)
c.952C>T (p.Gln318Ter)
c.1219C>T (p.Gln407Ter)
c.1177C>T (p.Gln393Ter)
c.1075C>T (p.Gln359Ter)
c.1039C>T (p.Gln347Ter)
c.880C>T (p.Gln294Ter)
1g.173909609G>CCA1251281SERPINC1c.1096C>G (p.Gln366Glu)
c.560-2116C>G (n.560-2116C>G)
c.952C>G (p.Gln318Glu)
c.1219C>G (p.Gln407Glu)
c.1177C>G (p.Gln393Glu)
c.1075C>G (p.Gln359Glu)
c.1039C>G (p.Gln347Glu)
c.880C>G (p.Gln294Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.173909609G=CA1147118571SERPINC1c.1096C= (p.Gln366=)
c.560-2116C= (n.560-2116C=)
c.952C= (p.Gln318=)
c.1219C= (p.Gln407=)
c.1177C= (p.Gln393=)
c.1075C= (p.Gln359=)
c.1039C= (p.Gln347=)
c.880C= (p.Gln294=)
1g.173909609G>TCA343773585SERPINC1c.1096C>A (p.Gln366Lys)
c.560-2116C>A (n.560-2116C>A)
c.952C>A (p.Gln318Lys)
c.1219C>A (p.Gln407Lys)
c.1177C>A (p.Gln393Lys)
c.1075C>A (p.Gln359Lys)
c.1039C>A (p.Gln347Lys)
c.880C>A (p.Gln294Lys)
 COSMIC
1g.173909610C>ACA343773586SERPINC1c.1095G>T (p.Glu365Asp)
c.560-2117G>T (n.560-2117G>T)
c.951G>T (p.Glu317Asp)
c.1218G>T (p.Glu406Asp)
c.1176G>T (p.Glu392Asp)
c.1074G>T (p.Glu358Asp)
c.1038G>T (p.Glu346Asp)
c.879G>T (p.Glu293Asp)
 gnomAD v4
1g.173909610C>GCA343773587SERPINC1c.1095G>C (p.Glu365Asp)
c.560-2117G>C (n.560-2117G>C)
c.951G>C (p.Glu317Asp)
c.1218G>C (p.Glu406Asp)
c.1176G>C (p.Glu392Asp)
c.1074G>C (p.Glu358Asp)
c.1038G>C (p.Glu346Asp)
c.879G>C (p.Glu293Asp)
1g.173909610C>TCA421942832SERPINC1c.1095G>A (p.Glu365=)
c.560-2117G>A (n.560-2117G>A)
c.951G>A (p.Glu317=)
c.1218G>A (p.Glu406=)
c.1176G>A (p.Glu392=)
c.1074G>A (p.Glu358=)
c.1038G>A (p.Glu346=)
c.879G>A (p.Glu293=)
 COSMIC
1g.173909611T>ACA343773588SERPINC1c.1094A>T (p.Glu365Val)
c.560-2118A>T (n.560-2118A>T)
c.950A>T (p.Glu317Val)
c.1217A>T (p.Glu406Val)
c.1175A>T (p.Glu392Val)
c.1073A>T (p.Glu358Val)
c.1037A>T (p.Glu346Val)
c.878A>T (p.Glu293Val)
1g.173909611T>CCA1251282SERPINC1c.1094A>G (p.Glu365Gly)
c.560-2118A>G (n.560-2118A>G)
c.950A>G (p.Glu317Gly)
c.1217A>G (p.Glu406Gly)
c.1175A>G (p.Glu392Gly)
c.1073A>G (p.Glu358Gly)
c.1037A>G (p.Glu346Gly)
c.878A>G (p.Glu293Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.173909611T>GCA343773589SERPINC1c.1094A>C (p.Glu365Ala)
c.560-2118A>C (n.560-2118A>C)
c.950A>C (p.Glu317Ala)
c.1217A>C (p.Glu406Ala)
c.1175A>C (p.Glu392Ala)
c.1073A>C (p.Glu358Ala)
c.1037A>C (p.Glu346Ala)
c.878A>C (p.Glu293Ala)
1g.173909611T=CA1207936911SERPINC1c.1094A= (p.Glu365=)
c.560-2118A= (n.560-2118A=)
c.950A= (p.Glu317=)
c.1217A= (p.Glu406=)
c.1175A= (p.Glu392=)
c.1073A= (p.Glu358=)
c.1037A= (p.Glu346=)
c.878A= (p.Glu293=)
1g.173909612C>ACA343773590SERPINC1c.1093G>T (p.Glu365Ter)
c.560-2119G>T (n.560-2119G>T)
c.949G>T (p.Glu317Ter)
c.1216G>T (p.Glu406Ter)
c.1174G>T (p.Glu392Ter)
c.1072G>T (p.Glu358Ter)
c.1036G>T (p.Glu346Ter)
c.877G>T (p.Glu293Ter)
1g.173909612C>GCA343773591SERPINC1c.1093G>C (p.Glu365Gln)
c.560-2119G>C (n.560-2119G>C)
c.949G>C (p.Glu317Gln)
c.1216G>C (p.Glu406Gln)
c.1174G>C (p.Glu392Gln)
c.1072G>C (p.Glu358Gln)
c.1036G>C (p.Glu346Gln)
c.877G>C (p.Glu293Gln)
 gnomAD v4
1g.173909612C>TCA343773592SERPINC1c.1093G>A (p.Glu365Lys)
c.560-2119G>A (n.560-2119G>A)
c.949G>A (p.Glu317Lys)
c.1216G>A (p.Glu406Lys)
c.1174G>A (p.Glu392Lys)
c.1072G>A (p.Glu358Lys)
c.1036G>A (p.Glu346Lys)
c.877G>A (p.Glu293Lys)
1g.173909613C>ACA343773593SERPINC1c.1092G>T (p.Lys364Asn)
c.560-2120G>T (n.560-2120G>T)
c.948G>T (p.Lys316Asn)
c.1215G>T (p.Lys405Asn)
c.1173G>T (p.Lys391Asn)
c.1071G>T (p.Lys357Asn)
c.1035G>T (p.Lys345Asn)
c.876G>T (p.Lys292Asn)
1g.173909613C>GCA343773594SERPINC1c.1092G>C (p.Lys364Asn)
c.560-2120G>C (n.560-2120G>C)
c.948G>C (p.Lys316Asn)
c.1215G>C (p.Lys405Asn)
c.1173G>C (p.Lys391Asn)
c.1071G>C (p.Lys357Asn)
c.1035G>C (p.Lys345Asn)
c.876G>C (p.Lys292Asn)
1g.173909613C>TCA421942837SERPINC1c.1092G>A (p.Lys364=)
c.560-2120G>A (n.560-2120G>A)
c.948G>A (p.Lys316=)
c.1215G>A (p.Lys405=)
c.1173G>A (p.Lys391=)
c.1071G>A (p.Lys357=)
c.1035G>A (p.Lys345=)
c.876G>A (p.Lys292=)
1g.173909614T>ACA343773595SERPINC1c.1091A>T (p.Lys364Met)
c.560-2121A>T (n.560-2121A>T)
c.947A>T (p.Lys316Met)
c.1214A>T (p.Lys405Met)
c.1172A>T (p.Lys391Met)
c.1070A>T (p.Lys357Met)
c.1034A>T (p.Lys345Met)
c.875A>T (p.Lys292Met)
1g.173909614T>CCA343773596SERPINC1c.1091A>G (p.Lys364Arg)
c.560-2121A>G (n.560-2121A>G)
c.947A>G (p.Lys316Arg)
c.1214A>G (p.Lys405Arg)
c.1172A>G (p.Lys391Arg)
c.1070A>G (p.Lys357Arg)
c.1034A>G (p.Lys345Arg)
c.875A>G (p.Lys292Arg)
1g.173909614T>GCA343773597SERPINC1c.1091A>C (p.Lys364Thr)
c.560-2121A>C (n.560-2121A>C)
c.947A>C (p.Lys316Thr)
c.1214A>C (p.Lys405Thr)
c.1172A>C (p.Lys391Thr)
c.1070A>C (p.Lys357Thr)
c.1034A>C (p.Lys345Thr)
c.875A>C (p.Lys292Thr)
1g.173909615T>ACA343773598SERPINC1c.1090A>T (p.Lys364Ter)
c.560-2122A>T (n.560-2122A>T)
c.946A>T (p.Lys316Ter)
c.1213A>T (p.Lys405Ter)
c.1171A>T (p.Lys391Ter)
c.1069A>T (p.Lys357Ter)
c.1033A>T (p.Lys345Ter)
c.874A>T (p.Lys292Ter)
1g.173909615T>CCA343773599SERPINC1c.1090A>G (p.Lys364Glu)
c.560-2122A>G (n.560-2122A>G)
c.946A>G (p.Lys316Glu)
c.1213A>G (p.Lys405Glu)
c.1171A>G (p.Lys391Glu)
c.1069A>G (p.Lys357Glu)
c.1033A>G (p.Lys345Glu)
c.874A>G (p.Lys292Glu)
1g.173909615T>GCA343773600SERPINC1c.1090A>C (p.Lys364Gln)
c.560-2122A>C (n.560-2122A>C)
c.946A>C (p.Lys316Gln)
c.1213A>C (p.Lys405Gln)
c.1171A>C (p.Lys391Gln)
c.1069A>C (p.Lys357Gln)
c.1033A>C (p.Lys345Gln)
c.874A>C (p.Lys292Gln)
 dbSNP
1g.173909615T=CA1207936912SERPINC1c.1090A= (p.Lys364=)
c.560-2122A= (n.560-2122A=)
c.946A= (p.Lys316=)
c.1213A= (p.Lys405=)
c.1171A= (p.Lys391=)
c.1069A= (p.Lys357=)
c.1033A= (p.Lys345=)
c.874A= (p.Lys292=)
1g.173909616C>ACA343773601SERPINC1c.1089G>T (p.Leu363Phe)
c.560-2123G>T (n.560-2123G>T)
c.945G>T (p.Leu315Phe)
c.1212G>T (p.Leu404Phe)
c.1170G>T (p.Leu390Phe)
c.1068G>T (p.Leu356Phe)
c.1032G>T (p.Leu344Phe)
c.873G>T (p.Leu291Phe)
1g.173909616C>GCA343773602SERPINC1c.1089G>C (p.Leu363Phe)
c.560-2123G>C (n.560-2123G>C)
c.945G>C (p.Leu315Phe)
c.1212G>C (p.Leu404Phe)
c.1170G>C (p.Leu390Phe)
c.1068G>C (p.Leu356Phe)
c.1032G>C (p.Leu344Phe)
c.873G>C (p.Leu291Phe)
1g.173909616C>TCA421942838SERPINC1c.1089G>A (p.Leu363=)
c.560-2123G>A (n.560-2123G>A)
c.945G>A (p.Leu315=)
c.1212G>A (p.Leu404=)
c.1170G>A (p.Leu390=)
c.1068G>A (p.Leu356=)
c.1032G>A (p.Leu344=)
c.873G>A (p.Leu291=)
1g.173909617A>CCA343773603SERPINC1c.1088T>G (p.Leu363Trp)
c.560-2124T>G (n.560-2124T>G)
c.944T>G (p.Leu315Trp)
c.1211T>G (p.Leu404Trp)
c.1169T>G (p.Leu390Trp)
c.1067T>G (p.Leu356Trp)
c.1031T>G (p.Leu344Trp)
c.872T>G (p.Leu291Trp)
1g.173909617A>GCA343773605SERPINC1c.1088T>C (p.Leu363Ser)
c.560-2124T>C (n.560-2124T>C)
c.944T>C (p.Leu315Ser)
c.1211T>C (p.Leu404Ser)
c.1169T>C (p.Leu390Ser)
c.1067T>C (p.Leu356Ser)
c.1031T>C (p.Leu344Ser)
c.872T>C (p.Leu291Ser)
1g.173909617A>TCA343773604SERPINC1c.1088T>A (p.Leu363Ter)
c.560-2124T>A (n.560-2124T>A)
c.944T>A (p.Leu315Ter)
c.1211T>A (p.Leu404Ter)
c.1169T>A (p.Leu390Ter)
c.1067T>A (p.Leu356Ter)
c.1031T>A (p.Leu344Ter)
c.872T>A (p.Leu291Ter)
1g.173909618A=CA1207936913SERPINC1c.1087T= (p.Leu363=)
c.560-2125T= (n.560-2125T=)
c.943T= (p.Leu315=)
c.1210T= (p.Leu404=)
c.1168T= (p.Leu390=)
c.1066T= (p.Leu356=)
c.1030T= (p.Leu344=)
c.871T= (p.Leu291=)
1g.173909618A>CCA343773606SERPINC1c.1087T>G (p.Leu363Val)
c.560-2125T>G (n.560-2125T>G)
c.943T>G (p.Leu315Val)
c.1210T>G (p.Leu404Val)
c.1168T>G (p.Leu390Val)
c.1066T>G (p.Leu356Val)
c.1030T>G (p.Leu344Val)
c.871T>G (p.Leu291Val)
1g.173909618A>GCA421942839SERPINC1c.1087T>C (p.Leu363=)
c.560-2125T>C (n.560-2125T>C)
c.943T>C (p.Leu315=)
c.1210T>C (p.Leu404=)
c.1168T>C (p.Leu390=)
c.1066T>C (p.Leu356=)
c.1030T>C (p.Leu344=)
c.871T>C (p.Leu291=)
 dbSNP
1g.173909618A>TCA343773607SERPINC1c.1087T>A (p.Leu363Met)
c.560-2125T>A (n.560-2125T>A)
c.943T>A (p.Leu315Met)
c.1210T>A (p.Leu404Met)
c.1168T>A (p.Leu390Met)
c.1066T>A (p.Leu356Met)
c.1030T>A (p.Leu344Met)
c.871T>A (p.Leu291Met)
 dbSNP
1g.173909619A>CCA343773608SERPINC1c.1086T>G (p.Ser362Arg)
c.560-2126T>G (n.560-2126T>G)
c.942T>G (p.Ser314Arg)
c.1209T>G (p.Ser403Arg)
c.1167T>G (p.Ser389Arg)
c.1065T>G (p.Ser355Arg)
c.1029T>G (p.Ser343Arg)
c.870T>G (p.Ser290Arg)
1g.173909619A>GCA421942840SERPINC1c.1086T>C (p.Ser362=)
c.560-2126T>C (n.560-2126T>C)
c.942T>C (p.Ser314=)
c.1209T>C (p.Ser403=)
c.1167T>C (p.Ser389=)
c.1065T>C (p.Ser355=)
c.1029T>C (p.Ser343=)
c.870T>C (p.Ser290=)
1g.173909619A>TCA343773609SERPINC1c.1086T>A (p.Ser362Arg)
c.560-2126T>A (n.560-2126T>A)
c.942T>A (p.Ser314Arg)
c.1209T>A (p.Ser403Arg)
c.1167T>A (p.Ser389Arg)
c.1065T>A (p.Ser355Arg)
c.1029T>A (p.Ser343Arg)
c.870T>A (p.Ser290Arg)
1g.173909620C>ACA1251283SERPINC1c.1085G>T (p.Ser362Ile)
c.560-2127G>T (n.560-2127G>T)
c.941G>T (p.Ser314Ile)
c.1208G>T (p.Ser403Ile)
c.1166G>T (p.Ser389Ile)
c.1064G>T (p.Ser355Ile)
c.1028G>T (p.Ser343Ile)
c.869G>T (p.Ser290Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.173909620C=CA1207936914SERPINC1c.1085G= (p.Ser362=)
c.560-2127G= (n.560-2127G=)
c.941G= (p.Ser314=)
c.1208G= (p.Ser403=)
c.1166G= (p.Ser389=)
c.1064G= (p.Ser355=)
c.1028G= (p.Ser343=)
c.869G= (p.Ser290=)
1g.173909620C>GCA343773610SERPINC1c.1085G>C (p.Ser362Thr)
c.560-2127G>C (n.560-2127G>C)
c.941G>C (p.Ser314Thr)
c.1208G>C (p.Ser403Thr)
c.1166G>C (p.Ser389Thr)
c.1064G>C (p.Ser355Thr)
c.1028G>C (p.Ser343Thr)
c.869G>C (p.Ser290Thr)
1g.173909620C>TCA343773611SERPINC1c.1085G>A (p.Ser362Asn)
c.560-2127G>A (n.560-2127G>A)
c.941G>A (p.Ser314Asn)
c.1208G>A (p.Ser403Asn)
c.1166G>A (p.Ser389Asn)
c.1064G>A (p.Ser355Asn)
c.1028G>A (p.Ser343Asn)
c.869G>A (p.Ser290Asn)
 gnomAD v4
1g.173909621T>ACA343773612SERPINC1c.1084A>T (p.Ser362Cys)
c.560-2128A>T (n.560-2128A>T)
c.940A>T (p.Ser314Cys)
c.1207A>T (p.Ser403Cys)
c.1165A>T (p.Ser389Cys)
c.1063A>T (p.Ser355Cys)
c.1027A>T (p.Ser343Cys)
c.868A>T (p.Ser290Cys)
1g.173909621T>CCA343773613SERPINC1c.1084A>G (p.Ser362Gly)
c.560-2128A>G (n.560-2128A>G)
c.940A>G (p.Ser314Gly)
c.1207A>G (p.Ser403Gly)
c.1165A>G (p.Ser389Gly)
c.1063A>G (p.Ser355Gly)
c.1027A>G (p.Ser343Gly)
c.868A>G (p.Ser290Gly)
1g.173909621T>GCA343773614SERPINC1c.1084A>C (p.Ser362Arg)
c.560-2128A>C (n.560-2128A>C)
c.940A>C (p.Ser314Arg)
c.1207A>C (p.Ser403Arg)
c.1165A>C (p.Ser389Arg)
c.1063A>C (p.Ser355Arg)
c.1027A>C (p.Ser343Arg)
c.868A>C (p.Ser290Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.173909621T=CA1207936916SERPINC1c.1084A= (p.Ser362=)
c.560-2128A= (n.560-2128A=)
c.940A= (p.Ser314=)
c.1207A= (p.Ser403=)
c.1165A= (p.Ser389=)
c.1063A= (p.Ser355=)
c.1027A= (p.Ser343=)
c.868A= (p.Ser290=)
1g.173909621_173909639delinsTGAAGCCGTCCTCAATGCGCA1207936915SERPINC1c.1066_1084delinsCGCATTGAGGACGGCTTCA (p.Arg356=)
c.560-2146_560-2128delinsCGCATTGAGGACGGCTTCA (n.560-2146_560-2128delinsCGCATTGAGGACGGCTTCA)
c.922_940delinsCGCATTGAGGACGGCTTCA (p.Arg308=)
c.1189_1207delinsCGCATTGAGGACGGCTTCA (p.Arg397=)
c.1147_1165delinsCGCATTGAGGACGGCTTCA (p.Arg383=)
c.1045_1063delinsCGCATTGAGGACGGCTTCA (p.Arg349=)
c.1009_1027delinsCGCATTGAGGACGGCTTCA (p.Arg337=)
c.850_868delinsCGCATTGAGGACGGCTTCA (p.Arg284=)
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.173909622G>ACA421942841SERPINC1c.1083C>T (p.Phe361=)
c.560-2129C>T (n.560-2129C>T)
c.939C>T (p.Phe313=)
c.1206C>T (p.Phe402=)
c.1164C>T (p.Phe388=)
c.1062C>T (p.Phe354=)
c.1026C>T (p.Phe342=)
c.867C>T (p.Phe289=)
 dbSNP gnomAD v2 gnomAD v4
1g.173909622G>CCA343773616SERPINC1c.1083C>G (p.Phe361Leu)
c.560-2129C>G (n.560-2129C>G)
c.939C>G (p.Phe313Leu)
c.1206C>G (p.Phe402Leu)
c.1164C>G (p.Phe388Leu)
c.1062C>G (p.Phe354Leu)
c.1026C>G (p.Phe342Leu)
c.867C>G (p.Phe289Leu)
1g.173909622G=CA1207936917SERPINC1c.1083C= (p.Phe361=)
c.560-2129C= (n.560-2129C=)
c.939C= (p.Phe313=)
c.1206C= (p.Phe402=)
c.1164C= (p.Phe388=)
c.1062C= (p.Phe354=)
c.1026C= (p.Phe342=)
c.867C= (p.Phe289=)
1g.173909622G>TCA343773615SERPINC1c.1083C>A (p.Phe361Leu)
c.560-2129C>A (n.560-2129C>A)
c.939C>A (p.Phe313Leu)
c.1206C>A (p.Phe402Leu)
c.1164C>A (p.Phe388Leu)
c.1062C>A (p.Phe354Leu)
c.1026C>A (p.Phe342Leu)
c.867C>A (p.Phe289Leu)
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.173909623A>CCA343773617SERPINC1c.1082T>G (p.Phe361Cys)
c.560-2130T>G (n.560-2130T>G)
c.938T>G (p.Phe313Cys)
c.1205T>G (p.Phe402Cys)
c.1163T>G (p.Phe388Cys)
c.1061T>G (p.Phe354Cys)
c.1025T>G (p.Phe342Cys)
c.866T>G (p.Phe289Cys)
1g.173909623A>GCA343773618SERPINC1c.1082T>C (p.Phe361Ser)
c.560-2130T>C (n.560-2130T>C)
c.938T>C (p.Phe313Ser)
c.1205T>C (p.Phe402Ser)
c.1163T>C (p.Phe388Ser)
c.1061T>C (p.Phe354Ser)
c.1025T>C (p.Phe342Ser)
c.866T>C (p.Phe289Ser)
1g.173909623A>TCA343773619SERPINC1c.1082T>A (p.Phe361Tyr)
c.560-2130T>A (n.560-2130T>A)
c.938T>A (p.Phe313Tyr)
c.1205T>A (p.Phe402Tyr)
c.1163T>A (p.Phe388Tyr)
c.1061T>A (p.Phe354Tyr)
c.1025T>A (p.Phe342Tyr)
c.866T>A (p.Phe289Tyr)
1g.173909624A>CCA343773620SERPINC1c.1081T>G (p.Phe361Val)
c.560-2131T>G (n.560-2131T>G)
c.937T>G (p.Phe313Val)
c.1204T>G (p.Phe402Val)
c.1162T>G (p.Phe388Val)
c.1060T>G (p.Phe354Val)
c.1024T>G (p.Phe342Val)
c.865T>G (p.Phe289Val)
1g.173909624A>GCA343773621SERPINC1c.1081T>C (p.Phe361Leu)
c.560-2131T>C (n.560-2131T>C)
c.937T>C (p.Phe313Leu)
c.1204T>C (p.Phe402Leu)
c.1162T>C (p.Phe388Leu)
c.1060T>C (p.Phe354Leu)
c.1024T>C (p.Phe342Leu)
c.865T>C (p.Phe289Leu)
 gnomAD v4
1g.173909624A>TCA343773622SERPINC1c.1081T>A (p.Phe361Ile)
c.560-2131T>A (n.560-2131T>A)
c.937T>A (p.Phe313Ile)
c.1204T>A (p.Phe402Ile)
c.1162T>A (p.Phe388Ile)
c.1060T>A (p.Phe354Ile)
c.1024T>A (p.Phe342Ile)
c.865T>A (p.Phe289Ile)
1g.173909625G>ACA421942845SERPINC1c.1080C>T (p.Gly360=)
c.560-2132C>T (n.560-2132C>T)
c.936C>T (p.Gly312=)
c.1203C>T (p.Gly401=)
c.1161C>T (p.Gly387=)
c.1059C>T (p.Gly353=)
c.1023C>T (p.Gly341=)
c.864C>T (p.Gly288=)
 gnomAD v4
1g.173909625G>CCA421942846SERPINC1c.1080C>G (p.Gly360=)
c.560-2132C>G (n.560-2132C>G)
c.936C>G (p.Gly312=)
c.1203C>G (p.Gly401=)
c.1161C>G (p.Gly387=)
c.1059C>G (p.Gly353=)
c.1023C>G (p.Gly341=)
c.864C>G (p.Gly288=)
1g.173909625G>TCA421942847SERPINC1c.1080C>A (p.Gly360=)
c.560-2132C>A (n.560-2132C>A)
c.936C>A (p.Gly312=)
c.1203C>A (p.Gly401=)
c.1161C>A (p.Gly387=)
c.1059C>A (p.Gly353=)
c.1023C>A (p.Gly341=)
c.864C>A (p.Gly288=)
1g.173909626C>ACA343773623SERPINC1c.1079G>T (p.Gly360Val)
c.560-2133G>T (n.560-2133G>T)
c.935G>T (p.Gly312Val)
c.1202G>T (p.Gly401Val)
c.1160G>T (p.Gly387Val)
c.1058G>T (p.Gly353Val)
c.1022G>T (p.Gly341Val)
c.863G>T (p.Gly288Val)
1g.173909626C=CA1207936918SERPINC1c.1079G= (p.Gly360=)
c.560-2133G= (n.560-2133G=)
c.935G= (p.Gly312=)
c.1202G= (p.Gly401=)
c.1160G= (p.Gly387=)
c.1058G= (p.Gly353=)
c.1022G= (p.Gly341=)
c.863G= (p.Gly288=)
1g.173909626C>GCA343773624SERPINC1c.1079G>C (p.Gly360Ala)
c.560-2133G>C (n.560-2133G>C)
c.935G>C (p.Gly312Ala)
c.1202G>C (p.Gly401Ala)
c.1160G>C (p.Gly387Ala)
c.1058G>C (p.Gly353Ala)
c.1022G>C (p.Gly341Ala)
c.863G>C (p.Gly288Ala)
1g.173909626C>TCA343773625SERPINC1c.1079G>A (p.Gly360Asp)
c.560-2133G>A (n.560-2133G>A)
c.935G>A (p.Gly312Asp)
c.1202G>A (p.Gly401Asp)
c.1160G>A (p.Gly387Asp)
c.1058G>A (p.Gly353Asp)
c.1022G>A (p.Gly341Asp)
c.863G>A (p.Gly288Asp)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.173909627delCA2580060334SERPINC1c.1079del (p.Gly360AlafsTer4)
c.560-2133del (n.560-2133del)
c.935del (p.Gly312AlafsTer4)
c.1202del (p.Gly401AlafsTer4)
c.1160del (p.Gly387AlafsTer4)
c.1058del (p.Gly353AlafsTer4)
c.1022del (p.Gly341AlafsTer4)
c.863del (p.Gly288AlafsTer4)
1g.173909627C>ACA343773626SERPINC1c.1078G>T (p.Gly360Cys)
c.560-2134G>T (n.560-2134G>T)
c.934G>T (p.Gly312Cys)
c.1201G>T (p.Gly401Cys)
c.1159G>T (p.Gly387Cys)
c.1057G>T (p.Gly353Cys)
c.1021G>T (p.Gly341Cys)
c.862G>T (p.Gly288Cys)
1g.173909627C=CA1207936919SERPINC1c.1078G= (p.Gly360=)
c.560-2134G= (n.560-2134G=)
c.934G= (p.Gly312=)
c.1201G= (p.Gly401=)
c.1159G= (p.Gly387=)
c.1057G= (p.Gly353=)
c.1021G= (p.Gly341=)
c.862G= (p.Gly288=)
1g.173909627C>GCA343773627SERPINC1c.1078G>C (p.Gly360Arg)
c.560-2134G>C (n.560-2134G>C)
c.934G>C (p.Gly312Arg)
c.1201G>C (p.Gly401Arg)
c.1159G>C (p.Gly387Arg)
c.1057G>C (p.Gly353Arg)
c.1021G>C (p.Gly341Arg)
c.862G>C (p.Gly288Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.173909627C>TCA1251284SERPINC1c.1078G>A (p.Gly360Ser)
c.560-2134G>A (n.560-2134G>A)
c.934G>A (p.Gly312Ser)
c.1201G>A (p.Gly401Ser)
c.1159G>A (p.Gly387Ser)
c.1057G>A (p.Gly353Ser)
c.1021G>A (p.Gly341Ser)
c.862G>A (p.Gly288Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.173909628G>ACA1251285SERPINC1c.1077C>T (p.Asp359=)
c.560-2135C>T (n.560-2135C>T)
c.933C>T (p.Asp311=)
c.1200C>T (p.Asp400=)
c.1158C>T (p.Asp386=)
c.1056C>T (p.Asp352=)
c.1020C>T (p.Asp340=)
c.861C>T (p.Asp287=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.173909628G>CCA343773629SERPINC1c.1077C>G (p.Asp359Glu)
c.560-2135C>G (n.560-2135C>G)
c.933C>G (p.Asp311Glu)
c.1200C>G (p.Asp400Glu)
c.1158C>G (p.Asp386Glu)
c.1056C>G (p.Asp352Glu)
c.1020C>G (p.Asp340Glu)
c.861C>G (p.Asp287Glu)
1g.173909628G=CA1207936920SERPINC1c.1077C= (p.Asp359=)
c.560-2135C= (n.560-2135C=)
c.933C= (p.Asp311=)
c.1200C= (p.Asp400=)
c.1158C= (p.Asp386=)
c.1056C= (p.Asp352=)
c.1020C= (p.Asp340=)
c.861C= (p.Asp287=)
1g.173909628G>TCA343773628SERPINC1c.1077C>A (p.Asp359Glu)
c.560-2135C>A (n.560-2135C>A)
c.933C>A (p.Asp311Glu)
c.1200C>A (p.Asp400Glu)
c.1158C>A (p.Asp386Glu)
c.1056C>A (p.Asp352Glu)
c.1020C>A (p.Asp340Glu)
c.861C>A (p.Asp287Glu)
1g.173909629T>ACA343773630SERPINC1c.1076A>T (p.Asp359Val)
c.560-2136A>T (n.560-2136A>T)
c.932A>T (p.Asp311Val)
c.1199A>T (p.Asp400Val)
c.1157A>T (p.Asp386Val)
c.1055A>T (p.Asp352Val)
c.1019A>T (p.Asp340Val)
c.860A>T (p.Asp287Val)
1g.173909629T>CCA343773631SERPINC1c.1076A>G (p.Asp359Gly)
c.560-2136A>G (n.560-2136A>G)
c.932A>G (p.Asp311Gly)
c.1199A>G (p.Asp400Gly)
c.1157A>G (p.Asp386Gly)
c.1055A>G (p.Asp352Gly)
c.1019A>G (p.Asp340Gly)
c.860A>G (p.Asp287Gly)
1g.173909629T>GCA343773632SERPINC1c.1076A>C (p.Asp359Ala)
c.560-2136A>C (n.560-2136A>C)
c.932A>C (p.Asp311Ala)
c.1199A>C (p.Asp400Ala)
c.1157A>C (p.Asp386Ala)
c.1055A>C (p.Asp352Ala)
c.1019A>C (p.Asp340Ala)
c.860A>C (p.Asp287Ala)
1g.173909630C>ACA343773633SERPINC1c.1075G>T (p.Asp359Tyr)
c.560-2137G>T (n.560-2137G>T)
c.931G>T (p.Asp311Tyr)
c.1198G>T (p.Asp400Tyr)
c.1156G>T (p.Asp386Tyr)
c.1054G>T (p.Asp352Tyr)
c.1018G>T (p.Asp340Tyr)
c.859G>T (p.Asp287Tyr)
1g.173909630C>GCA343773634SERPINC1c.1075G>C (p.Asp359His)
c.560-2137G>C (n.560-2137G>C)
c.931G>C (p.Asp311His)
c.1198G>C (p.Asp400His)
c.1156G>C (p.Asp386His)
c.1054G>C (p.Asp352His)
c.1018G>C (p.Asp340His)
c.859G>C (p.Asp287His)
1g.173909630C>TCA343773635SERPINC1c.1075G>A (p.Asp359Asn)
c.560-2137G>A (n.560-2137G>A)
c.931G>A (p.Asp311Asn)
c.1198G>A (p.Asp400Asn)
c.1156G>A (p.Asp386Asn)
c.1054G>A (p.Asp352Asn)
c.1018G>A (p.Asp340Asn)
c.859G>A (p.Asp287Asn)
1g.173909631C>ACA343773636SERPINC1c.1074G>T (p.Glu358Asp)
c.560-2138G>T (n.560-2138G>T)
c.930G>T (p.Glu310Asp)
c.1197G>T (p.Glu399Asp)
c.1155G>T (p.Glu385Asp)
c.1053G>T (p.Glu351Asp)
c.1017G>T (p.Glu339Asp)
c.858G>T (p.Glu286Asp)
1g.173909631C=CA1207936921SERPINC1c.1074G= (p.Glu358=)
c.560-2138G= (n.560-2138G=)
c.930G= (p.Glu310=)
c.1197G= (p.Glu399=)
c.1155G= (p.Glu385=)
c.1053G= (p.Glu351=)
c.1017G= (p.Glu339=)
c.858G= (p.Glu286=)
1g.173909631C>GCA343773637SERPINC1c.1074G>C (p.Glu358Asp)
c.560-2138G>C (n.560-2138G>C)
c.930G>C (p.Glu310Asp)
c.1197G>C (p.Glu399Asp)
c.1155G>C (p.Glu385Asp)
c.1053G>C (p.Glu351Asp)
c.1017G>C (p.Glu339Asp)
c.858G>C (p.Glu286Asp)
1g.173909631C>TCA421942855SERPINC1c.1074G>A (p.Glu358=)
c.560-2138G>A (n.560-2138G>A)
c.930G>A (p.Glu310=)
c.1197G>A (p.Glu399=)
c.1155G>A (p.Glu385=)
c.1053G>A (p.Glu351=)
c.1017G>A (p.Glu339=)
c.858G>A (p.Glu286=)
 dbSNP gnomAD v3 gnomAD v4
1g.173909632T>ACA343773638SERPINC1c.1073A>T (p.Glu358Val)
c.560-2139A>T (n.560-2139A>T)
c.929A>T (p.Glu310Val)
c.1196A>T (p.Glu399Val)
c.1154A>T (p.Glu385Val)
c.1052A>T (p.Glu351Val)
c.1016A>T (p.Glu339Val)
c.857A>T (p.Glu286Val)
1g.173909632T>CCA343773639SERPINC1c.1073A>G (p.Glu358Gly)
c.560-2139A>G (n.560-2139A>G)
c.929A>G (p.Glu310Gly)
c.1196A>G (p.Glu399Gly)
c.1154A>G (p.Glu385Gly)
c.1052A>G (p.Glu351Gly)
c.1016A>G (p.Glu339Gly)
c.857A>G (p.Glu286Gly)
1g.173909632T>GCA343773640SERPINC1c.1073A>C (p.Glu358Ala)
c.560-2139A>C (n.560-2139A>C)
c.929A>C (p.Glu310Ala)
c.1196A>C (p.Glu399Ala)
c.1154A>C (p.Glu385Ala)
c.1052A>C (p.Glu351Ala)
c.1016A>C (p.Glu339Ala)
c.857A>C (p.Glu286Ala)
1g.173909633C>ACA343773641SERPINC1c.1072G>T (p.Glu358Ter)
c.560-2140G>T (n.560-2140G>T)
c.928G>T (p.Glu310Ter)
c.1195G>T (p.Glu399Ter)
c.1153G>T (p.Glu385Ter)
c.1051G>T (p.Glu351Ter)
c.1015G>T (p.Glu339Ter)
c.856G>T (p.Glu286Ter)
1g.173909633C>GCA343773642SERPINC1c.1072G>C (p.Glu358Gln)
c.560-2140G>C (n.560-2140G>C)
c.928G>C (p.Glu310Gln)
c.1195G>C (p.Glu399Gln)
c.1153G>C (p.Glu385Gln)
c.1051G>C (p.Glu351Gln)
c.1015G>C (p.Glu339Gln)
c.856G>C (p.Glu286Gln)
1g.173909633C>TCA343773643SERPINC1c.1072G>A (p.Glu358Lys)
c.560-2140G>A (n.560-2140G>A)
c.928G>A (p.Glu310Lys)
c.1195G>A (p.Glu399Lys)
c.1153G>A (p.Glu385Lys)
c.1051G>A (p.Glu351Lys)
c.1015G>A (p.Glu339Lys)
c.856G>A (p.Glu286Lys)
1g.173909634A=CA1207936922SERPINC1c.1071T= (p.Ile357=)
c.560-2141T= (n.560-2141T=)
c.927T= (p.Ile309=)
c.1194T= (p.Ile398=)
c.1152T= (p.Ile384=)
c.1050T= (p.Ile350=)
c.1014T= (p.Ile338=)
c.855T= (p.Ile285=)
1g.173909634A>CCA343773644SERPINC1c.1071T>G (p.Ile357Met)
c.560-2141T>G (n.560-2141T>G)
c.927T>G (p.Ile309Met)
c.1194T>G (p.Ile398Met)
c.1152T>G (p.Ile384Met)
c.1050T>G (p.Ile350Met)
c.1014T>G (p.Ile338Met)
c.855T>G (p.Ile285Met)
1g.173909634A>GCA421942857SERPINC1c.1071T>C (p.Ile357=)
c.560-2141T>C (n.560-2141T>C)
c.927T>C (p.Ile309=)
c.1194T>C (p.Ile398=)
c.1152T>C (p.Ile384=)
c.1050T>C (p.Ile350=)
c.1014T>C (p.Ile338=)
c.855T>C (p.Ile285=)
 dbSNP gnomAD v2 gnomAD v4
1g.173909634A>TCA421942858SERPINC1c.1071T>A (p.Ile357=)
c.560-2141T>A (n.560-2141T>A)
c.927T>A (p.Ile309=)
c.1194T>A (p.Ile398=)
c.1152T>A (p.Ile384=)
c.1050T>A (p.Ile350=)
c.1014T>A (p.Ile338=)
c.855T>A (p.Ile285=)
1g.173909635A=CA1207936923SERPINC1c.1070T= (p.Ile357=)
c.560-2142T= (n.560-2142T=)
c.926T= (p.Ile309=)
c.1193T= (p.Ile398=)
c.1151T= (p.Ile384=)
c.1049T= (p.Ile350=)
c.1013T= (p.Ile338=)
c.854T= (p.Ile285=)
1g.173909635A>CCA343773645SERPINC1c.1070T>G (p.Ile357Ser)
c.560-2142T>G (n.560-2142T>G)
c.926T>G (p.Ile309Ser)
c.1193T>G (p.Ile398Ser)
c.1151T>G (p.Ile384Ser)
c.1049T>G (p.Ile350Ser)
c.1013T>G (p.Ile338Ser)
c.854T>G (p.Ile285Ser)
1g.173909635A>GCA1251286SERPINC1c.1070T>C (p.Ile357Thr)
c.560-2142T>C (n.560-2142T>C)
c.926T>C (p.Ile309Thr)
c.1193T>C (p.Ile398Thr)
c.1151T>C (p.Ile384Thr)
c.1049T>C (p.Ile350Thr)
c.1013T>C (p.Ile338Thr)
c.854T>C (p.Ile285Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.173909635A>TCA343773646SERPINC1c.1070T>A (p.Ile357Asn)
c.560-2142T>A (n.560-2142T>A)
c.926T>A (p.Ile309Asn)
c.1193T>A (p.Ile398Asn)
c.1151T>A (p.Ile384Asn)
c.1049T>A (p.Ile350Asn)
c.1013T>A (p.Ile338Asn)
c.854T>A (p.Ile285Asn)
1g.173909636delCA2586964402SERPINC1c.1069del (p.Ile357LeufsTer7)
c.560-2143del (n.560-2143del)
c.925del (p.Ile309LeufsTer7)
c.1192del (p.Ile398LeufsTer7)
c.1150del (p.Ile384LeufsTer7)
c.1048del (p.Ile350LeufsTer7)
c.1012del (p.Ile338LeufsTer7)
c.853del (p.Ile285LeufsTer7)
1g.173909636T>ACA343773647SERPINC1c.1069A>T (p.Ile357Phe)
c.560-2143A>T (n.560-2143A>T)
c.925A>T (p.Ile309Phe)
c.1192A>T (p.Ile398Phe)
c.1150A>T (p.Ile384Phe)
c.1048A>T (p.Ile350Phe)
c.1012A>T (p.Ile338Phe)
c.853A>T (p.Ile285Phe)
1g.173909636T>CCA343773648SERPINC1c.1069A>G (p.Ile357Val)
c.560-2143A>G (n.560-2143A>G)
c.925A>G (p.Ile309Val)
c.1192A>G (p.Ile398Val)
c.1150A>G (p.Ile384Val)
c.1048A>G (p.Ile350Val)
c.1012A>G (p.Ile338Val)
c.853A>G (p.Ile285Val)
1g.173909636T>GCA343773649SERPINC1c.1069A>C (p.Ile357Leu)
c.560-2143A>C (n.560-2143A>C)
c.925A>C (p.Ile309Leu)
c.1192A>C (p.Ile398Leu)
c.1150A>C (p.Ile384Leu)
c.1048A>C (p.Ile350Leu)
c.1012A>C (p.Ile338Leu)
c.853A>C (p.Ile285Leu)
1g.173909637G>ACA421942861SERPINC1c.1068C>T (p.Arg356=)
c.560-2144C>T (n.560-2144C>T)
c.924C>T (p.Arg308=)
c.1191C>T (p.Arg397=)
c.1149C>T (p.Arg383=)
c.1047C>T (p.Arg349=)
c.1011C>T (p.Arg337=)
c.852C>T (p.Arg284=)
1g.173909637G>CCA421942862SERPINC1c.1068C>G (p.Arg356=)
c.560-2144C>G (n.560-2144C>G)
c.924C>G (p.Arg308=)
c.1191C>G (p.Arg397=)
c.1149C>G (p.Arg383=)
c.1047C>G (p.Arg349=)
c.1011C>G (p.Arg337=)
c.852C>G (p.Arg284=)
1g.173909637G>TCA421942859SERPINC1c.1068C>A (p.Arg356=)
c.560-2144C>A (n.560-2144C>A)
c.924C>A (p.Arg308=)
c.1191C>A (p.Arg397=)
c.1149C>A (p.Arg383=)
c.1047C>A (p.Arg349=)
c.1011C>A (p.Arg337=)
c.852C>A (p.Arg284=)
1g.173909638C>ACA32780230SERPINC1c.1067G>T (p.Arg356Leu)
c.560-2145G>T (n.560-2145G>T)
c.923G>T (p.Arg308Leu)
c.1190G>T (p.Arg397Leu)
c.1148G>T (p.Arg383Leu)
c.1046G>T (p.Arg349Leu)
c.1010G>T (p.Arg337Leu)
c.851G>T (p.Arg284Leu)
 dbSNP gnomAD v4
1g.173909638C=CA1143933623SERPINC1c.1067G= (p.Arg356=)
c.560-2145G= (n.560-2145G=)
c.923G= (p.Arg308=)
c.1190G= (p.Arg397=)
c.1148G= (p.Arg383=)
c.1046G= (p.Arg349=)
c.1010G= (p.Arg337=)
c.851G= (p.Arg284=)
1g.173909638C>GCA343773650SERPINC1c.1067G>C (p.Arg356Pro)
c.560-2145G>C (n.560-2145G>C)
c.923G>C (p.Arg308Pro)
c.1190G>C (p.Arg397Pro)
c.1148G>C (p.Arg383Pro)
c.1046G>C (p.Arg349Pro)
c.1010G>C (p.Arg337Pro)
c.851G>C (p.Arg284Pro)
1g.173909638C>TCA1251287SERPINC1c.1067G>A (p.Arg356His)
c.560-2145G>A (n.560-2145G>A)
c.923G>A (p.Arg308His)
c.1190G>A (p.Arg397His)
c.1148G>A (p.Arg383His)
c.1046G>A (p.Arg349His)
c.1010G>A (p.Arg337His)
c.851G>A (p.Arg284His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.173909639G>ACA1251288SERPINC1c.1066C>T (p.Arg356Cys)
c.560-2146C>T (n.560-2146C>T)
c.922C>T (p.Arg308Cys)
c.1189C>T (p.Arg397Cys)
c.1147C>T (p.Arg383Cys)
c.1045C>T (p.Arg349Cys)
c.1009C>T (p.Arg337Cys)
c.850C>T (p.Arg284Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.173909639G>CCA343773651SERPINC1c.1066C>G (p.Arg356Gly)
c.560-2146C>G (n.560-2146C>G)
c.922C>G (p.Arg308Gly)
c.1189C>G (p.Arg397Gly)
c.1147C>G (p.Arg383Gly)
c.1045C>G (p.Arg349Gly)
c.1009C>G (p.Arg337Gly)
c.850C>G (p.Arg284Gly)
 gnomAD v4
1g.173909639G=CA1144147984SERPINC1c.1066C= (p.Arg356=)
c.560-2146C= (n.560-2146C=)
c.922C= (p.Arg308=)
c.1189C= (p.Arg397=)
c.1147C= (p.Arg383=)
c.1045C= (p.Arg349=)
c.1009C= (p.Arg337=)
c.850C= (p.Arg284=)
1g.173909639G>TCA343773652SERPINC1c.1066C>A (p.Arg356Ser)
c.560-2146C>A (n.560-2146C>A)
c.922C>A (p.Arg308Ser)
c.1189C>A (p.Arg397Ser)
c.1147C>A (p.Arg383Ser)
c.1045C>A (p.Arg349Ser)
c.1009C>A (p.Arg337Ser)
c.850C>A (p.Arg284Ser)
1g.173909640G>ACA421942864SERPINC1c.1065C>T (p.Phe355=)
c.560-2147C>T (n.560-2147C>T)
c.921C>T (p.Phe307=)
c.1188C>T (p.Phe396=)
c.1146C>T (p.Phe382=)
c.1044C>T (p.Phe348=)
c.1008C>T (p.Phe336=)
c.849C>T (p.Phe283=)
1g.173909640G>CCA343773653SERPINC1c.1065C>G (p.Phe355Leu)
c.560-2147C>G (n.560-2147C>G)
c.921C>G (p.Phe307Leu)
c.1188C>G (p.Phe396Leu)
c.1146C>G (p.Phe382Leu)
c.1044C>G (p.Phe348Leu)
c.1008C>G (p.Phe336Leu)
c.849C>G (p.Phe283Leu)
1g.173909640G>TCA343773654SERPINC1c.1065C>A (p.Phe355Leu)
c.560-2147C>A (n.560-2147C>A)
c.921C>A (p.Phe307Leu)
c.1188C>A (p.Phe396Leu)
c.1146C>A (p.Phe382Leu)
c.1044C>A (p.Phe348Leu)
c.1008C>A (p.Phe336Leu)
c.849C>A (p.Phe283Leu)
1g.173909641A>CCA343773655SERPINC1c.1064T>G (p.Phe355Cys)
c.560-2148T>G (n.560-2148T>G)
c.920T>G (p.Phe307Cys)
c.1187T>G (p.Phe396Cys)
c.1145T>G (p.Phe382Cys)
c.1043T>G (p.Phe348Cys)
c.1007T>G (p.Phe336Cys)
c.848T>G (p.Phe283Cys)
1g.173909641A>GCA343773656SERPINC1c.1064T>C (p.Phe355Ser)
c.560-2148T>C (n.560-2148T>C)
c.920T>C (p.Phe307Ser)
c.1187T>C (p.Phe396Ser)
c.1145T>C (p.Phe382Ser)
c.1043T>C (p.Phe348Ser)
c.1007T>C (p.Phe336Ser)
c.848T>C (p.Phe283Ser)
1g.173909641A>TCA343773657SERPINC1c.1064T>A (p.Phe355Tyr)
c.560-2148T>A (n.560-2148T>A)
c.920T>A (p.Phe307Tyr)
c.1187T>A (p.Phe396Tyr)
c.1145T>A (p.Phe382Tyr)
c.1043T>A (p.Phe348Tyr)
c.1007T>A (p.Phe336Tyr)
c.848T>A (p.Phe283Tyr)

Number of alleles fetched