Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.173909737_173909740delinsCTCTCA1141581219SERPINC1c.965_968delinsAGAG (p.Lys322=)
n.616_619delinsAGAG
c.559+2124_559+2127delinsAGAG (p.=)
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 (p.=)
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.173909739C>ACA343774059SERPINC1c.966G>T (p.Lys322Asn)
n.617G>T
c.559+2125G>T (p.=)
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)
1g.173909739C=CA1207936974SERPINC1c.966G= (p.Lys322=)
n.617G=
c.559+2125G= (p.=)
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 (p.=)
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 (p.=)
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
1g.173909740T>ACA343774063SERPINC1c.965A>T (p.Lys322Met)
n.616A>T
c.559+2124A>T (p.=)
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 (p.=)
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)
1g.173909740T>GCA343774067SERPINC1c.965A>C (p.Lys322Thr)
n.616A>C
c.559+2124A>C (p.=)
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 (p.=)
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 (p.=)
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 (p.=)
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 (p.=)
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 (p.=)
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 (p.=)
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=)
COSMIC
1g.173909743T>ACA343774077SERPINC1c.962A>T (p.Glu321Val)
n.613A>T
c.559+2121A>T (p.=)
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 (p.=)
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 (p.=)
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 (p.=)
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= (p.=)
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 (p.=)
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 (p.=)
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)
gnomAD
1g.173909745A=CA1207936976SERPINC1c.960T= (p.Pro320=)
n.611T=
c.559+2119T= (p.=)
c.816T= (p.Pro272=)
c.1083T= (p.Pro361=)
c.1041T= (p.Pro347=)
c.939T= (p.Pro313=)
c.903T= (p.Pro301=)
c.744T= (p.Pro248=)
1g.173909745A>CCA421942989SERPINC1c.960T>G (p.Pro320=)
n.611T>G
c.559+2119T>G (p.=)
c.816T>G (p.Pro272=)
c.1083T>G (p.Pro361=)
c.1041T>G (p.Pro347=)
c.939T>G (p.Pro313=)
c.903T>G (p.Pro301=)
c.744T>G (p.Pro248=)
1g.173909745A>GCA421942990SERPINC1c.960T>C (p.Pro320=)
n.611T>C
c.559+2119T>C (p.=)
c.816T>C (p.Pro272=)
c.1083T>C (p.Pro361=)
c.1041T>C (p.Pro347=)
c.939T>C (p.Pro313=)
c.903T>C (p.Pro301=)
c.744T>C (p.Pro248=)
gnomAD
1g.173909745A>TCA421942991SERPINC1c.960T>A (p.Pro320=)
n.611T>A
c.559+2119T>A (p.=)
c.816T>A (p.Pro272=)
c.1083T>A (p.Pro361=)
c.1041T>A (p.Pro347=)
c.939T>A (p.Pro313=)
c.903T>A (p.Pro301=)
c.744T>A (p.Pro248=)
1g.173909746G>ACA343774089SERPINC1c.959C>T (p.Pro320Leu)
n.610C>T
c.559+2118C>T (p.=)
c.815C>T (p.Pro272Leu)
c.1082C>T (p.Pro361Leu)
c.1040C>T (p.Pro347Leu)
c.938C>T (p.Pro313Leu)
c.902C>T (p.Pro301Leu)
c.743C>T (p.Pro248Leu)
1g.173909746G>CCA343774091SERPINC1c.959C>G (p.Pro320Arg)
n.610C>G
c.559+2118C>G (p.=)
c.815C>G (p.Pro272Arg)
c.1082C>G (p.Pro361Arg)
c.1040C>G (p.Pro347Arg)
c.938C>G (p.Pro313Arg)
c.902C>G (p.Pro301Arg)
c.743C>G (p.Pro248Arg)
1g.173909746G=CA1207936977SERPINC1c.959C= (p.Pro320=)
n.610C=
c.559+2118C= (p.=)
c.815C= (p.Pro272=)
c.1082C= (p.Pro361=)
c.1040C= (p.Pro347=)
c.938C= (p.Pro313=)
c.902C= (p.Pro301=)
c.743C= (p.Pro248=)
1g.173909746G>TCA343774093SERPINC1c.959C>A (p.Pro320His)
n.610C>A
c.559+2118C>A (p.=)
c.815C>A (p.Pro272His)
c.1082C>A (p.Pro361His)
c.1040C>A (p.Pro347His)
c.938C>A (p.Pro313His)
c.902C>A (p.Pro301His)
c.743C>A (p.Pro248His)
1g.173909747G>ACA1251304SERPINC1c.958C>T (p.Pro320Ser)
n.609C>T
c.559+2117C>T (p.=)
c.814C>T (p.Pro272Ser)
c.1081C>T (p.Pro361Ser)
c.1039C>T (p.Pro347Ser)
c.937C>T (p.Pro313Ser)
c.901C>T (p.Pro301Ser)
c.742C>T (p.Pro248Ser)
dbSNP ExAC gnomAD
1g.173909747G>CCA343774096SERPINC1c.958C>G (p.Pro320Ala)
n.609C>G
c.559+2117C>G (p.=)
c.814C>G (p.Pro272Ala)
c.1081C>G (p.Pro361Ala)
c.1039C>G (p.Pro347Ala)
c.937C>G (p.Pro313Ala)
c.901C>G (p.Pro301Ala)
c.742C>G (p.Pro248Ala)
1g.173909747G=CA1207936978SERPINC1c.958C= (p.Pro320=)
n.609C=
c.559+2117C= (p.=)
c.814C= (p.Pro272=)
c.1081C= (p.Pro361=)
c.1039C= (p.Pro347=)
c.937C= (p.Pro313=)
c.901C= (p.Pro301=)
c.742C= (p.Pro248=)
1g.173909747G>TCA343774098SERPINC1c.958C>A (p.Pro320Thr)
n.609C>A
c.559+2117C>A (p.=)
c.814C>A (p.Pro272Thr)
c.1081C>A (p.Pro361Thr)
c.1039C>A (p.Pro347Thr)
c.937C>A (p.Pro313Thr)
c.901C>A (p.Pro301Thr)
c.742C>A (p.Pro248Thr)
1g.173909748C>ACA343774100SERPINC1c.957G>T (p.Lys319Asn)
n.608G>T
c.559+2116G>T (p.=)
c.813G>T (p.Lys271Asn)
c.1080G>T (p.Lys360Asn)
c.1038G>T (p.Lys346Asn)
c.936G>T (p.Lys312Asn)
c.900G>T (p.Lys300Asn)
c.741G>T (p.Lys247Asn)
1g.173909748C=CA1207936979SERPINC1c.957G= (p.Lys319=)
n.608G=
c.559+2116G= (p.=)
c.813G= (p.Lys271=)
c.1080G= (p.Lys360=)
c.1038G= (p.Lys346=)
c.936G= (p.Lys312=)
c.900G= (p.Lys300=)
c.741G= (p.Lys247=)
1g.173909748C>GCA343774101SERPINC1c.957G>C (p.Lys319Asn)
n.608G>C
c.559+2116G>C (p.=)
c.813G>C (p.Lys271Asn)
c.1080G>C (p.Lys360Asn)
c.1038G>C (p.Lys346Asn)
c.936G>C (p.Lys312Asn)
c.900G>C (p.Lys300Asn)
c.741G>C (p.Lys247Asn)
1g.173909748C>TCA421942993SERPINC1c.957G>A (p.Lys319=)
n.608G>A
c.559+2116G>A (p.=)
c.813G>A (p.Lys271=)
c.1080G>A (p.Lys360=)
c.1038G>A (p.Lys346=)
c.936G>A (p.Lys312=)
c.900G>A (p.Lys300=)
c.741G>A (p.Lys247=)
COSMIC
1g.173909749T>ACA343774103SERPINC1c.956A>T (p.Lys319Met)
n.607A>T
c.559+2115A>T (p.=)
c.812A>T (p.Lys271Met)
c.1079A>T (p.Lys360Met)
c.1037A>T (p.Lys346Met)
c.935A>T (p.Lys312Met)
c.899A>T (p.Lys300Met)
c.740A>T (p.Lys247Met)
gnomAD
1g.173909749T>CCA343774105SERPINC1c.956A>G (p.Lys319Arg)
n.607A>G
c.559+2115A>G (p.=)
c.812A>G (p.Lys271Arg)
c.1079A>G (p.Lys360Arg)
c.1037A>G (p.Lys346Arg)
c.935A>G (p.Lys312Arg)
c.899A>G (p.Lys300Arg)
c.740A>G (p.Lys247Arg)
1g.173909749T>GCA343774107SERPINC1c.956A>C (p.Lys319Thr)
n.607A>C
c.559+2115A>C (p.=)
c.812A>C (p.Lys271Thr)
c.1079A>C (p.Lys360Thr)
c.1037A>C (p.Lys346Thr)
c.935A>C (p.Lys312Thr)
c.899A>C (p.Lys300Thr)
c.740A>C (p.Lys247Thr)
1g.173909749T=CA1207936980SERPINC1c.956A= (p.Lys319=)
n.607A=
c.559+2115A= (p.=)
c.812A= (p.Lys271=)
c.1079A= (p.Lys360=)
c.1037A= (p.Lys346=)
c.935A= (p.Lys312=)
c.899A= (p.Lys300=)
c.740A= (p.Lys247=)
1g.173909750T>ACA343774110SERPINC1c.955A>T (p.Lys319Ter)
n.606A>T
c.559+2114A>T (p.=)
c.811A>T (p.Lys271Ter)
c.1078A>T (p.Lys360Ter)
c.1036A>T (p.Lys346Ter)
c.934A>T (p.Lys312Ter)
c.898A>T (p.Lys300Ter)
c.739A>T (p.Lys247Ter)
1g.173909750T>CCA343774112SERPINC1c.955A>G (p.Lys319Glu)
n.606A>G
c.559+2114A>G (p.=)
c.811A>G (p.Lys271Glu)
c.1078A>G (p.Lys360Glu)
c.1036A>G (p.Lys346Glu)
c.934A>G (p.Lys312Glu)
c.898A>G (p.Lys300Glu)
c.739A>G (p.Lys247Glu)
1g.173909750T>GCA343774108SERPINC1c.955A>C (p.Lys319Gln)
n.606A>C
c.559+2114A>C (p.=)
c.811A>C (p.Lys271Gln)
c.1078A>C (p.Lys360Gln)
c.1036A>C (p.Lys346Gln)
c.934A>C (p.Lys312Gln)
c.898A>C (p.Lys300Gln)
c.739A>C (p.Lys247Gln)
1g.173909751G>ACA421943001SERPINC1c.954C>T (p.Pro318=)
n.605C>T
c.559+2113C>T (p.=)
c.810C>T (p.Pro270=)
c.1077C>T (p.Pro359=)
c.1035C>T (p.Pro345=)
c.933C>T (p.Pro311=)
c.897C>T (p.Pro299=)
c.738C>T (p.Pro246=)
1g.173909751G>CCA421943002SERPINC1c.954C>G (p.Pro318=)
n.605C>G
c.559+2113C>G (p.=)
c.810C>G (p.Pro270=)
c.1077C>G (p.Pro359=)
c.1035C>G (p.Pro345=)
c.933C>G (p.Pro311=)
c.897C>G (p.Pro299=)
c.738C>G (p.Pro246=)
1g.173909751G>TCA421943003SERPINC1c.954C>A (p.Pro318=)
n.605C>A
c.559+2113C>A (p.=)
c.810C>A (p.Pro270=)
c.1077C>A (p.Pro359=)
c.1035C>A (p.Pro345=)
c.933C>A (p.Pro311=)
c.897C>A (p.Pro299=)
c.738C>A (p.Pro246=)
1g.173909752G>ACA343774114SERPINC1c.953C>T (p.Pro318Leu)
n.604C>T
c.559+2112C>T (p.=)
c.809C>T (p.Pro270Leu)
c.1076C>T (p.Pro359Leu)
c.1034C>T (p.Pro345Leu)
c.932C>T (p.Pro311Leu)
c.896C>T (p.Pro299Leu)
c.737C>T (p.Pro246Leu)
ClinVar
1g.173909752G>CCA343774116SERPINC1c.953C>G (p.Pro318Arg)
n.604C>G
c.559+2112C>G (p.=)
c.809C>G (p.Pro270Arg)
c.1076C>G (p.Pro359Arg)
c.1034C>G (p.Pro345Arg)
c.932C>G (p.Pro311Arg)
c.896C>G (p.Pro299Arg)
c.737C>G (p.Pro246Arg)

Number of alleles fetched