Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.173909621_173909639delinsTGAAGCCGTCCTCAATGCGCA1207936915SERPINC1c.1066_1084delinsCGCATTGAGGACGGCTTCA (p.Arg356=)
c.560-2146_560-2128delinsCGCATTGAGGACGGCTTCA (p.=)
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_173909644delinsGAAGCCGTCCTCAATGCGGAAGCCA1143355583SERPINC1c.1061_1083delinsGCTTCCGCATTGAGGACGGCTTC (p.Arg354=)
c.560-2151_560-2129delinsGCTTCCGCATTGAGGACGGCTTC (p.=)
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 (p.=)
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.173909639G>ACA1251288SERPINC1c.1066C>T (p.Arg356Cys)
c.560-2146C>T (p.=)
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 COSMIC
1g.173909639G>CCA343773651SERPINC1c.1066C>G (p.Arg356Gly)
c.560-2146C>G (p.=)
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)
1g.173909639G=CA1144147984SERPINC1c.1066C= (p.Arg356=)
c.560-2146C= (p.=)
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 (p.=)
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 (p.=)
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 (p.=)
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 (p.=)
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 (p.=)
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 (p.=)
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 (p.=)
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)
1g.173909642A=CA1207936924SERPINC1c.1063T= (p.Phe355=)
c.560-2149T= (p.=)
c.919T= (p.Phe307=)
c.1186T= (p.Phe396=)
c.1144T= (p.Phe382=)
c.1042T= (p.Phe348=)
c.1006T= (p.Phe336=)
c.847T= (p.Phe283=)
1g.173909642A>CCA32780236SERPINC1c.1063T>G (p.Phe355Val)
c.560-2149T>G (p.=)
c.919T>G (p.Phe307Val)
c.1186T>G (p.Phe396Val)
c.1144T>G (p.Phe382Val)
c.1042T>G (p.Phe348Val)
c.1006T>G (p.Phe336Val)
c.847T>G (p.Phe283Val)
dbSNP gnomAD
1g.173909642A>GCA343773659SERPINC1c.1063T>C (p.Phe355Leu)
c.560-2149T>C (p.=)
c.919T>C (p.Phe307Leu)
c.1186T>C (p.Phe396Leu)
c.1144T>C (p.Phe382Leu)
c.1042T>C (p.Phe348Leu)
c.1006T>C (p.Phe336Leu)
c.847T>C (p.Phe283Leu)
1g.173909642A>TCA343773658SERPINC1c.1063T>A (p.Phe355Ile)
c.560-2149T>A (p.=)
c.919T>A (p.Phe307Ile)
c.1186T>A (p.Phe396Ile)
c.1144T>A (p.Phe382Ile)
c.1042T>A (p.Phe348Ile)
c.1006T>A (p.Phe336Ile)
c.847T>A (p.Phe283Ile)
1g.173909643G>ACA421942869SERPINC1c.1062C>T (p.Arg354=)
c.560-2150C>T (p.=)
c.918C>T (p.Arg306=)
c.1185C>T (p.Arg395=)
c.1143C>T (p.Arg381=)
c.1041C>T (p.Arg347=)
c.1005C>T (p.Arg335=)
c.846C>T (p.Arg282=)
COSMIC
1g.173909643G>CCA421942867SERPINC1c.1062C>G (p.Arg354=)
c.560-2150C>G (p.=)
c.918C>G (p.Arg306=)
c.1185C>G (p.Arg395=)
c.1143C>G (p.Arg381=)
c.1041C>G (p.Arg347=)
c.1005C>G (p.Arg335=)
c.846C>G (p.Arg282=)
1g.173909643G=CA1207936925SERPINC1c.1062C= (p.Arg354=)
c.560-2150C= (p.=)
c.918C= (p.Arg306=)
c.1185C= (p.Arg395=)
c.1143C= (p.Arg381=)
c.1041C= (p.Arg347=)
c.1005C= (p.Arg335=)
c.846C= (p.Arg282=)
1g.173909643G>TCA421942868SERPINC1c.1062C>A (p.Arg354=)
c.560-2150C>A (p.=)
c.918C>A (p.Arg306=)
c.1185C>A (p.Arg395=)
c.1143C>A (p.Arg381=)
c.1041C>A (p.Arg347=)
c.1005C>A (p.Arg335=)
c.846C>A (p.Arg282=)
1g.173909644C>ACA343773660SERPINC1c.1061G>T (p.Arg354Leu)
c.560-2151G>T (p.=)
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= (p.=)
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 (p.=)
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 (p.=)
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)
dbSNP ExAC gnomAD
1g.173909644_173909645delinsCGCA1207936927SERPINC1c.1060_1061delinsCG (p.Arg354=)
c.560-2152_560-2151delinsCG (p.=)
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 (p.=)
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 gnomAD
1g.173909645G>CCA343773663SERPINC1c.1060C>G (p.Arg354Gly)
c.560-2152C>G (p.=)
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= (p.=)
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 (p.=)
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
1g.173909648delCA337494SERPINC1c.1060del (p.Arg354AlafsTer10)
c.560-2152del (p.=)
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.173909646G>ACA421942873SERPINC1c.1059C>T (p.Pro353=)
c.560-2153C>T (p.=)
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 (p.=)
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= (p.=)
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 (p.=)
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
1g.173909647G>ACA343773664SERPINC1c.1058C>T (p.Pro353Leu)
c.560-2154C>T (p.=)
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)
1g.173909647G>CCA343773665SERPINC1c.1058C>G (p.Pro353Arg)
c.560-2154C>G (p.=)
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 (p.=)
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 (p.=)
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)
1g.173909648G>CCA343773668SERPINC1c.1057C>G (p.Pro353Ala)
c.560-2155C>G (p.=)
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 (p.=)
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 (p.=)
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 (p.=)
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 (p.=)
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 (p.=)
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)
1g.173909650A>CCA343773673SERPINC1c.1055T>G (p.Met352Arg)
c.560-2157T>G (p.=)
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 (p.=)
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)
1g.173909650A>TCA343773675SERPINC1c.1055T>A (p.Met352Lys)
c.560-2157T>A (p.=)
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)
1g.173909651T>ACA343773676SERPINC1c.1054A>T (p.Met352Leu)
c.560-2158A>T (p.=)
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 (p.=)
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

Number of alleles fetched