Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.173908360_173915405del | CA2573051419 | SERPINC1 | c.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 |
1 | g.173909622_173910322del | CA2573051420 | SERPINC1 | c.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 |
1 | g.173909730G>A | CA421942970 | SERPINC1 | c.975C>T (p.Ala325=) n.626C>T c.559+2134C>T (n.559+2134C>T) c.831C>T (p.Ala277=) c.1098C>T (p.Ala366=) c.1056C>T (p.Ala352=) c.954C>T (p.Ala318=) c.918C>T (p.Ala306=) c.759C>T (p.Ala253=) | |
1 | g.173909730G>C | CA1251302 | SERPINC1 | c.975C>G (p.Ala325=) n.626C>G c.559+2134C>G (n.559+2134C>G) c.831C>G (p.Ala277=) c.1098C>G (p.Ala366=) c.1056C>G (p.Ala352=) c.954C>G (p.Ala318=) c.918C>G (p.Ala306=) c.759C>G (p.Ala253=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909730G= | CA1143444881 | SERPINC1 | c.975C= (p.Ala325=) n.626C= c.559+2134C= (n.559+2134C=) c.831C= (p.Ala277=) c.1098C= (p.Ala366=) c.1056C= (p.Ala352=) c.954C= (p.Ala318=) c.918C= (p.Ala306=) c.759C= (p.Ala253=) | |
1 | g.173909730G>T | CA421942971 | SERPINC1 | c.975C>A (p.Ala325=) n.626C>A c.559+2134C>A (n.559+2134C>A) c.831C>A (p.Ala277=) c.1098C>A (p.Ala366=) c.1056C>A (p.Ala352=) c.954C>A (p.Ala318=) c.918C>A (p.Ala306=) c.759C>A (p.Ala253=) | |
1 | g.173909731G>A | CA343774024 | SERPINC1 | c.974C>T (p.Ala325Val) n.625C>T c.559+2133C>T (n.559+2133C>T) c.830C>T (p.Ala277Val) c.1097C>T (p.Ala366Val) c.1055C>T (p.Ala352Val) c.953C>T (p.Ala318Val) c.917C>T (p.Ala306Val) c.758C>T (p.Ala253Val) | dbSNP gnomAD v4 |
1 | g.173909731G>C | CA343774027 | SERPINC1 | c.974C>G (p.Ala325Gly) n.625C>G c.559+2133C>G (n.559+2133C>G) c.830C>G (p.Ala277Gly) c.1097C>G (p.Ala366Gly) c.1055C>G (p.Ala352Gly) c.953C>G (p.Ala318Gly) c.917C>G (p.Ala306Gly) c.758C>G (p.Ala253Gly) | |
1 | g.173909731G>T | CA343774026 | SERPINC1 | c.974C>A (p.Ala325Asp) n.625C>A c.559+2133C>A (n.559+2133C>A) c.830C>A (p.Ala277Asp) c.1097C>A (p.Ala366Asp) c.1055C>A (p.Ala352Asp) c.953C>A (p.Ala318Asp) c.917C>A (p.Ala306Asp) c.758C>A (p.Ala253Asp) | |
1 | g.173909732C>A | CA343774030 | SERPINC1 | c.973G>T (p.Ala325Ser) n.624G>T c.559+2132G>T (n.559+2132G>T) c.829G>T (p.Ala277Ser) c.1096G>T (p.Ala366Ser) c.1054G>T (p.Ala352Ser) c.952G>T (p.Ala318Ser) c.916G>T (p.Ala306Ser) c.757G>T (p.Ala253Ser) | |
1 | g.173909732C= | CA1207936968 | SERPINC1 | c.973G= (p.Ala325=) n.624G= c.559+2132G= (n.559+2132G=) c.829G= (p.Ala277=) c.1096G= (p.Ala366=) c.1054G= (p.Ala352=) c.952G= (p.Ala318=) c.916G= (p.Ala306=) c.757G= (p.Ala253=) | |
1 | g.173909732C>G | CA343774031 | SERPINC1 | c.973G>C (p.Ala325Pro) n.624G>C c.559+2132G>C (n.559+2132G>C) c.829G>C (p.Ala277Pro) c.1096G>C (p.Ala366Pro) c.1054G>C (p.Ala352Pro) c.952G>C (p.Ala318Pro) c.916G>C (p.Ala306Pro) c.757G>C (p.Ala253Pro) | dbSNP |
1 | g.173909732C>T | CA343774033 | SERPINC1 | c.973G>A (p.Ala325Thr) n.624G>A c.559+2132G>A (n.559+2132G>A) c.829G>A (p.Ala277Thr) c.1096G>A (p.Ala366Thr) c.1054G>A (p.Ala352Thr) c.952G>A (p.Ala318Thr) c.916G>A (p.Ala306Thr) c.757G>A (p.Ala253Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.173909733C>A | CA421942974 | SERPINC1 | c.972G>T (p.Leu324=) n.623G>T c.559+2131G>T (n.559+2131G>T) c.828G>T (p.Leu276=) c.1095G>T (p.Leu365=) c.1053G>T (p.Leu351=) c.951G>T (p.Leu317=) c.915G>T (p.Leu305=) c.756G>T (p.Leu252=) | |
1 | g.173909733C= | CA1207936969 | SERPINC1 | c.972G= (p.Leu324=) n.623G= c.559+2131G= (n.559+2131G=) c.828G= (p.Leu276=) c.1095G= (p.Leu365=) c.1053G= (p.Leu351=) c.951G= (p.Leu317=) c.915G= (p.Leu305=) c.756G= (p.Leu252=) | |
1 | g.173909733C>G | CA421942975 | SERPINC1 | c.972G>C (p.Leu324=) n.623G>C c.559+2131G>C (n.559+2131G>C) c.828G>C (p.Leu276=) c.1095G>C (p.Leu365=) c.1053G>C (p.Leu351=) c.951G>C (p.Leu317=) c.915G>C (p.Leu305=) c.756G>C (p.Leu252=) | |
1 | g.173909733C>T | CA421942976 | SERPINC1 | c.972G>A (p.Leu324=) n.623G>A c.559+2131G>A (n.559+2131G>A) c.828G>A (p.Leu276=) c.1095G>A (p.Leu365=) c.1053G>A (p.Leu351=) c.951G>A (p.Leu317=) c.915G>A (p.Leu305=) c.756G>A (p.Leu252=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.173909734A>C | CA343774035 | SERPINC1 | c.971T>G (p.Leu324Arg) n.622T>G c.559+2130T>G (n.559+2130T>G) c.827T>G (p.Leu276Arg) c.1094T>G (p.Leu365Arg) c.1052T>G (p.Leu351Arg) c.950T>G (p.Leu317Arg) c.914T>G (p.Leu305Arg) c.755T>G (p.Leu252Arg) | |
1 | g.173909734A>G | CA343774037 | SERPINC1 | c.971T>C (p.Leu324Pro) n.622T>C c.559+2130T>C (n.559+2130T>C) c.827T>C (p.Leu276Pro) c.1094T>C (p.Leu365Pro) c.1052T>C (p.Leu351Pro) c.950T>C (p.Leu317Pro) c.914T>C (p.Leu305Pro) c.755T>C (p.Leu252Pro) | |
1 | g.173909734A>T | CA343774039 | SERPINC1 | c.971T>A (p.Leu324Gln) n.622T>A c.559+2130T>A (n.559+2130T>A) c.827T>A (p.Leu276Gln) c.1094T>A (p.Leu365Gln) c.1052T>A (p.Leu351Gln) c.950T>A (p.Leu317Gln) c.914T>A (p.Leu305Gln) c.755T>A (p.Leu252Gln) | |
1 | g.173909735G>A | CA421942977 | SERPINC1 | c.970C>T (p.Leu324=) n.621C>T c.559+2129C>T (n.559+2129C>T) c.826C>T (p.Leu276=) c.1093C>T (p.Leu365=) c.1051C>T (p.Leu351=) c.949C>T (p.Leu317=) c.913C>T (p.Leu305=) c.754C>T (p.Leu252=) | dbSNP |
1 | g.173909735G>C | CA343774040 | SERPINC1 | c.970C>G (p.Leu324Val) n.621C>G c.559+2129C>G (n.559+2129C>G) c.826C>G (p.Leu276Val) c.1093C>G (p.Leu365Val) c.1051C>G (p.Leu351Val) c.949C>G (p.Leu317Val) c.913C>G (p.Leu305Val) c.754C>G (p.Leu252Val) | |
1 | g.173909735G= | CA1207936970 | SERPINC1 | c.970C= (p.Leu324=) n.621C= c.559+2129C= (n.559+2129C=) c.826C= (p.Leu276=) c.1093C= (p.Leu365=) c.1051C= (p.Leu351=) c.949C= (p.Leu317=) c.913C= (p.Leu305=) c.754C= (p.Leu252=) | |
1 | g.173909735G>T | CA1251303 | SERPINC1 | c.970C>A (p.Leu324Met) n.621C>A c.559+2129C>A (n.559+2129C>A) c.826C>A (p.Leu276Met) c.1093C>A (p.Leu365Met) c.1051C>A (p.Leu351Met) c.949C>A (p.Leu317Met) c.913C>A (p.Leu305Met) c.754C>A (p.Leu252Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.173909736G>A | CA32780322 | SERPINC1 | c.969C>T (p.Ser323=) n.620C>T c.559+2128C>T (n.559+2128C>T) c.825C>T (p.Ser275=) c.1092C>T (p.Ser364=) c.1050C>T (p.Ser350=) c.948C>T (p.Ser316=) c.912C>T (p.Ser304=) c.753C>T (p.Ser251=) | dbSNP |
1 | g.173909736G>C | CA343774043 | SERPINC1 | c.969C>G (p.Ser323Arg) n.620C>G c.559+2128C>G (n.559+2128C>G) c.825C>G (p.Ser275Arg) c.1092C>G (p.Ser364Arg) c.1050C>G (p.Ser350Arg) c.948C>G (p.Ser316Arg) c.912C>G (p.Ser304Arg) c.753C>G (p.Ser251Arg) | |
1 | g.173909736G= | CA1207936972 | SERPINC1 | c.969C= (p.Ser323=) n.620C= c.559+2128C= (n.559+2128C=) c.825C= (p.Ser275=) c.1092C= (p.Ser364=) c.1050C= (p.Ser350=) c.948C= (p.Ser316=) c.912C= (p.Ser304=) c.753C= (p.Ser251=) | |
1 | g.173909736G>T | CA343774044 | SERPINC1 | c.969C>A (p.Ser323Arg) n.620C>A c.559+2128C>A (n.559+2128C>A) c.825C>A (p.Ser275Arg) c.1092C>A (p.Ser364Arg) c.1050C>A (p.Ser350Arg) c.948C>A (p.Ser316Arg) c.912C>A (p.Ser304Arg) c.753C>A (p.Ser251Arg) | |
1 | g.173909736_173909738delinsGCT | CA1207936971 | SERPINC1 | c.967_969delinsAGC (p.Ser323=) n.618_620delinsAGC c.559+2126_559+2128delinsAGC (n.559+2126_559+2128delinsAGC) c.823_825delinsAGC (p.Ser275=) c.1090_1092delinsAGC (p.Ser364=) c.1048_1050delinsAGC (p.Ser350=) c.946_948delinsAGC (p.Ser316=) c.910_912delinsAGC (p.Ser304=) c.751_753delinsAGC (p.Ser251=) | |
1 | g.173909737C>A | CA343774049 | SERPINC1 | c.968G>T (p.Ser323Ile) n.619G>T c.559+2127G>T (n.559+2127G>T) c.824G>T (p.Ser275Ile) c.1091G>T (p.Ser364Ile) c.1049G>T (p.Ser350Ile) c.947G>T (p.Ser316Ile) c.911G>T (p.Ser304Ile) c.752G>T (p.Ser251Ile) | |
1 | g.173909737C>G | CA343774051 | SERPINC1 | c.968G>C (p.Ser323Thr) n.619G>C c.559+2127G>C (n.559+2127G>C) c.824G>C (p.Ser275Thr) c.1091G>C (p.Ser364Thr) c.1049G>C (p.Ser350Thr) c.947G>C (p.Ser316Thr) c.911G>C (p.Ser304Thr) c.752G>C (p.Ser251Thr) | |
1 | g.173909737C>T | CA343774047 | SERPINC1 | c.968G>A (p.Ser323Asn) n.619G>A c.559+2127G>A (n.559+2127G>A) c.824G>A (p.Ser275Asn) c.1091G>A (p.Ser364Asn) c.1049G>A (p.Ser350Asn) c.947G>A (p.Ser316Asn) c.911G>A (p.Ser304Asn) c.752G>A (p.Ser251Asn) | |
1 | g.173909737dup | CA2838221980 | SERPINC1 | c.968dup (p.Ser323ArgfsTer20) n.619dup c.559+2127dup (n.559+2127dup) c.824dup (p.Ser275ArgfsTer20) c.1091dup (p.Ser364ArgfsTer20) c.1049dup (p.Ser350ArgfsTer20) c.947dup (p.Ser316ArgfsTer20) c.911dup (p.Ser304ArgfsTer20) c.752dup (p.Ser251ArgfsTer20) | |
1 | g.173909737_173909740delinsCTCT | CA1141581219 | SERPINC1 | c.965_968delinsAGAG (p.Lys322=) n.616_619delinsAGAG c.559+2124_559+2127delinsAGAG (n.559+2124_559+2127delinsAGAG) c.821_824delinsAGAG (p.Lys274=) c.1088_1091delinsAGAG (p.Lys363=) c.1046_1049delinsAGAG (p.Lys349=) c.944_947delinsAGAG (p.Lys315=) c.908_911delinsAGAG (p.Lys303=) c.749_752delinsAGAG (p.Lys250=) | |
1 | g.173909739_173909740del | CA210774 | SERPINC1 | c.967_968del (p.Ser323ProfsTer19) n.618_619del c.559+2126_559+2127del (n.559+2126_559+2127del) c.823_824del (p.Ser275ProfsTer19) c.1090_1091del (p.Ser364ProfsTer19) c.1048_1049del (p.Ser350ProfsTer19) c.946_947del (p.Ser316ProfsTer19) c.910_911del (p.Ser304ProfsTer19) c.751_752del (p.Ser251ProfsTer19) | ClinVar dbSNP |
1 | g.173909738T>A | CA343774055 | SERPINC1 | c.967A>T (p.Ser323Cys) n.618A>T c.559+2126A>T (n.559+2126A>T) c.823A>T (p.Ser275Cys) c.1090A>T (p.Ser364Cys) c.1048A>T (p.Ser350Cys) c.946A>T (p.Ser316Cys) c.910A>T (p.Ser304Cys) c.751A>T (p.Ser251Cys) | |
1 | g.173909738T>C | CA343774053 | SERPINC1 | c.967A>G (p.Ser323Gly) n.618A>G c.559+2126A>G (n.559+2126A>G) c.823A>G (p.Ser275Gly) c.1090A>G (p.Ser364Gly) c.1048A>G (p.Ser350Gly) c.946A>G (p.Ser316Gly) c.910A>G (p.Ser304Gly) c.751A>G (p.Ser251Gly) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.173909738T>G | CA343774057 | SERPINC1 | c.967A>C (p.Ser323Arg) n.618A>C c.559+2126A>C (n.559+2126A>C) c.823A>C (p.Ser275Arg) c.1090A>C (p.Ser364Arg) c.1048A>C (p.Ser350Arg) c.946A>C (p.Ser316Arg) c.910A>C (p.Ser304Arg) c.751A>C (p.Ser251Arg) | |
1 | g.173909738T= | CA1207936973 | SERPINC1 | c.967A= (p.Ser323=) n.618A= c.559+2126A= (n.559+2126A=) c.823A= (p.Ser275=) c.1090A= (p.Ser364=) c.1048A= (p.Ser350=) c.946A= (p.Ser316=) c.910A= (p.Ser304=) c.751A= (p.Ser251=) | |
1 | g.173909739C>A | CA343774059 | SERPINC1 | c.966G>T (p.Lys322Asn) n.617G>T c.559+2125G>T (n.559+2125G>T) c.822G>T (p.Lys274Asn) c.1089G>T (p.Lys363Asn) c.1047G>T (p.Lys349Asn) c.945G>T (p.Lys315Asn) c.909G>T (p.Lys303Asn) c.750G>T (p.Lys250Asn) | gnomAD v4 |
1 | g.173909739C= | CA1207936974 | SERPINC1 | c.966G= (p.Lys322=) n.617G= c.559+2125G= (n.559+2125G=) c.822G= (p.Lys274=) c.1089G= (p.Lys363=) c.1047G= (p.Lys349=) c.945G= (p.Lys315=) c.909G= (p.Lys303=) c.750G= (p.Lys250=) | |
1 | g.173909739C>G | CA343774061 | SERPINC1 | c.966G>C (p.Lys322Asn) n.617G>C c.559+2125G>C (n.559+2125G>C) c.822G>C (p.Lys274Asn) c.1089G>C (p.Lys363Asn) c.1047G>C (p.Lys349Asn) c.945G>C (p.Lys315Asn) c.909G>C (p.Lys303Asn) c.750G>C (p.Lys250Asn) | |
1 | g.173909739C>T | CA32780328 | SERPINC1 | c.966G>A (p.Lys322=) n.617G>A c.559+2125G>A (n.559+2125G>A) c.822G>A (p.Lys274=) c.1089G>A (p.Lys363=) c.1047G>A (p.Lys349=) c.945G>A (p.Lys315=) c.909G>A (p.Lys303=) c.750G>A (p.Lys250=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909740T>A | CA343774063 | SERPINC1 | c.965A>T (p.Lys322Met) n.616A>T c.559+2124A>T (n.559+2124A>T) c.821A>T (p.Lys274Met) c.1088A>T (p.Lys363Met) c.1046A>T (p.Lys349Met) c.944A>T (p.Lys315Met) c.908A>T (p.Lys303Met) c.749A>T (p.Lys250Met) | |
1 | g.173909740T>C | CA343774065 | SERPINC1 | c.965A>G (p.Lys322Arg) n.616A>G c.559+2124A>G (n.559+2124A>G) c.821A>G (p.Lys274Arg) c.1088A>G (p.Lys363Arg) c.1046A>G (p.Lys349Arg) c.944A>G (p.Lys315Arg) c.908A>G (p.Lys303Arg) c.749A>G (p.Lys250Arg) | gnomAD v4 |
1 | g.173909740T>G | CA343774067 | SERPINC1 | c.965A>C (p.Lys322Thr) n.616A>C c.559+2124A>C (n.559+2124A>C) c.821A>C (p.Lys274Thr) c.1088A>C (p.Lys363Thr) c.1046A>C (p.Lys349Thr) c.944A>C (p.Lys315Thr) c.908A>C (p.Lys303Thr) c.749A>C (p.Lys250Thr) | |
1 | g.173909741T>A | CA343774069 | SERPINC1 | c.964A>T (p.Lys322Ter) n.615A>T c.559+2123A>T (n.559+2123A>T) c.820A>T (p.Lys274Ter) c.1087A>T (p.Lys363Ter) c.1045A>T (p.Lys349Ter) c.943A>T (p.Lys315Ter) c.907A>T (p.Lys303Ter) c.748A>T (p.Lys250Ter) | |
1 | g.173909741T>C | CA343774071 | SERPINC1 | c.964A>G (p.Lys322Glu) n.615A>G c.559+2123A>G (n.559+2123A>G) c.820A>G (p.Lys274Glu) c.1087A>G (p.Lys363Glu) c.1045A>G (p.Lys349Glu) c.943A>G (p.Lys315Glu) c.907A>G (p.Lys303Glu) c.748A>G (p.Lys250Glu) | |
1 | g.173909741T>G | CA343774072 | SERPINC1 | c.964A>C (p.Lys322Gln) n.615A>C c.559+2123A>C (n.559+2123A>C) c.820A>C (p.Lys274Gln) c.1087A>C (p.Lys363Gln) c.1045A>C (p.Lys349Gln) c.943A>C (p.Lys315Gln) c.907A>C (p.Lys303Gln) c.748A>C (p.Lys250Gln) | |
1 | g.173909742C>A | CA343774074 | SERPINC1 | c.963G>T (p.Glu321Asp) n.614G>T c.559+2122G>T (n.559+2122G>T) c.819G>T (p.Glu273Asp) c.1086G>T (p.Glu362Asp) c.1044G>T (p.Glu348Asp) c.942G>T (p.Glu314Asp) c.906G>T (p.Glu302Asp) c.747G>T (p.Glu249Asp) | |
1 | g.173909742C>G | CA343774075 | SERPINC1 | c.963G>C (p.Glu321Asp) n.614G>C c.559+2122G>C (n.559+2122G>C) c.819G>C (p.Glu273Asp) c.1086G>C (p.Glu362Asp) c.1044G>C (p.Glu348Asp) c.942G>C (p.Glu314Asp) c.906G>C (p.Glu302Asp) c.747G>C (p.Glu249Asp) | |
1 | g.173909742C>T | CA421942983 | SERPINC1 | c.963G>A (p.Glu321=) n.614G>A c.559+2122G>A (n.559+2122G>A) c.819G>A (p.Glu273=) c.1086G>A (p.Glu362=) c.1044G>A (p.Glu348=) c.942G>A (p.Glu314=) c.906G>A (p.Glu302=) c.747G>A (p.Glu249=) | gnomAD v4 COSMIC |
1 | g.173909743T>A | CA343774077 | SERPINC1 | c.962A>T (p.Glu321Val) n.613A>T c.559+2121A>T (n.559+2121A>T) c.818A>T (p.Glu273Val) c.1085A>T (p.Glu362Val) c.1043A>T (p.Glu348Val) c.941A>T (p.Glu314Val) c.905A>T (p.Glu302Val) c.746A>T (p.Glu249Val) | |
1 | g.173909743T>C | CA343774079 | SERPINC1 | c.962A>G (p.Glu321Gly) n.613A>G c.559+2121A>G (n.559+2121A>G) c.818A>G (p.Glu273Gly) c.1085A>G (p.Glu362Gly) c.1043A>G (p.Glu348Gly) c.941A>G (p.Glu314Gly) c.905A>G (p.Glu302Gly) c.746A>G (p.Glu249Gly) | |
1 | g.173909743T>G | CA343774081 | SERPINC1 | c.962A>C (p.Glu321Ala) n.613A>C c.559+2121A>C (n.559+2121A>C) c.818A>C (p.Glu273Ala) c.1085A>C (p.Glu362Ala) c.1043A>C (p.Glu348Ala) c.941A>C (p.Glu314Ala) c.905A>C (p.Glu302Ala) c.746A>C (p.Glu249Ala) | |
1 | g.173909744C>A | CA343774087 | SERPINC1 | c.961G>T (p.Glu321Ter) n.612G>T c.559+2120G>T (n.559+2120G>T) c.817G>T (p.Glu273Ter) c.1084G>T (p.Glu362Ter) c.1042G>T (p.Glu348Ter) c.940G>T (p.Glu314Ter) c.904G>T (p.Glu302Ter) c.745G>T (p.Glu249Ter) | |
1 | g.173909744C= | CA1207936975 | SERPINC1 | c.961G= (p.Glu321=) n.612G= c.559+2120G= (n.559+2120G=) c.817G= (p.Glu273=) c.1084G= (p.Glu362=) c.1042G= (p.Glu348=) c.940G= (p.Glu314=) c.904G= (p.Glu302=) c.745G= (p.Glu249=) | |
1 | g.173909744C>G | CA343774083 | SERPINC1 | c.961G>C (p.Glu321Gln) n.612G>C c.559+2120G>C (n.559+2120G>C) c.817G>C (p.Glu273Gln) c.1084G>C (p.Glu362Gln) c.1042G>C (p.Glu348Gln) c.940G>C (p.Glu314Gln) c.904G>C (p.Glu302Gln) c.745G>C (p.Glu249Gln) | |
1 | g.173909744C>T | CA343774085 | SERPINC1 | c.961G>A (p.Glu321Lys) n.612G>A c.559+2120G>A (n.559+2120G>A) c.817G>A (p.Glu273Lys) c.1084G>A (p.Glu362Lys) c.1042G>A (p.Glu348Lys) c.940G>A (p.Glu314Lys) c.904G>A (p.Glu302Lys) c.745G>A (p.Glu249Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909745A= | CA1207936976 | SERPINC1 | c.960T= (p.Pro320=) n.611T= c.559+2119T= (n.559+2119T=) c.816T= (p.Pro272=) c.1083T= (p.Pro361=) c.1041T= (p.Pro347=) c.939T= (p.Pro313=) c.903T= (p.Pro301=) c.744T= (p.Pro248=) | |
1 | g.173909745A>C | CA421942989 | SERPINC1 | c.960T>G (p.Pro320=) n.611T>G c.559+2119T>G (n.559+2119T>G) 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=) | gnomAD v3 gnomAD v4 |
1 | g.173909745A>G | CA421942990 | SERPINC1 | c.960T>C (p.Pro320=) n.611T>C c.559+2119T>C (n.559+2119T>C) 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=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.173909745A>T | CA421942991 | SERPINC1 | c.960T>A (p.Pro320=) n.611T>A c.559+2119T>A (n.559+2119T>A) 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=) | |
1 | g.173909746G>A | CA343774089 | SERPINC1 | c.959C>T (p.Pro320Leu) n.610C>T c.559+2118C>T (n.559+2118C>T) 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) | dbSNP |
1 | g.173909746G>C | CA343774091 | SERPINC1 | c.959C>G (p.Pro320Arg) n.610C>G c.559+2118C>G (n.559+2118C>G) 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) | |
1 | g.173909746G= | CA1207936977 | SERPINC1 | c.959C= (p.Pro320=) n.610C= c.559+2118C= (n.559+2118C=) c.815C= (p.Pro272=) c.1082C= (p.Pro361=) c.1040C= (p.Pro347=) c.938C= (p.Pro313=) c.902C= (p.Pro301=) c.743C= (p.Pro248=) | |
1 | g.173909746G>T | CA343774093 | SERPINC1 | c.959C>A (p.Pro320His) n.610C>A c.559+2118C>A (n.559+2118C>A) 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) | |
1 | g.173909747G>A | CA1251304 | SERPINC1 | c.958C>T (p.Pro320Ser) n.609C>T c.559+2117C>T (n.559+2117C>T) 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 v2 gnomAD v4 |
1 | g.173909747G>C | CA343774096 | SERPINC1 | c.958C>G (p.Pro320Ala) n.609C>G c.559+2117C>G (n.559+2117C>G) 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) | |
1 | g.173909747G= | CA1207936978 | SERPINC1 | c.958C= (p.Pro320=) n.609C= c.559+2117C= (n.559+2117C=) c.814C= (p.Pro272=) c.1081C= (p.Pro361=) c.1039C= (p.Pro347=) c.937C= (p.Pro313=) c.901C= (p.Pro301=) c.742C= (p.Pro248=) | |
1 | g.173909747G>T | CA343774098 | SERPINC1 | c.958C>A (p.Pro320Thr) n.609C>A c.559+2117C>A (n.559+2117C>A) 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) | |
1 | g.173909748C>A | CA343774100 | SERPINC1 | c.957G>T (p.Lys319Asn) n.608G>T c.559+2116G>T (n.559+2116G>T) 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) | |
1 | g.173909748C= | CA1207936979 | SERPINC1 | c.957G= (p.Lys319=) n.608G= c.559+2116G= (n.559+2116G=) c.813G= (p.Lys271=) c.1080G= (p.Lys360=) c.1038G= (p.Lys346=) c.936G= (p.Lys312=) c.900G= (p.Lys300=) c.741G= (p.Lys247=) | |
1 | g.173909748C>G | CA343774101 | SERPINC1 | c.957G>C (p.Lys319Asn) n.608G>C c.559+2116G>C (n.559+2116G>C) 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) | |
1 | g.173909748C>T | CA421942993 | SERPINC1 | c.957G>A (p.Lys319=) n.608G>A c.559+2116G>A (n.559+2116G>A) 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=) | dbSNP gnomAD v4 COSMIC |
1 | g.173909749T>A | CA343774103 | SERPINC1 | c.956A>T (p.Lys319Met) n.607A>T c.559+2115A>T (n.559+2115A>T) 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) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.173909749T>C | CA343774105 | SERPINC1 | c.956A>G (p.Lys319Arg) n.607A>G c.559+2115A>G (n.559+2115A>G) 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) | gnomAD v4 |
1 | g.173909749T>G | CA343774107 | SERPINC1 | c.956A>C (p.Lys319Thr) n.607A>C c.559+2115A>C (n.559+2115A>C) 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) | |
1 | g.173909749T= | CA1207936980 | SERPINC1 | c.956A= (p.Lys319=) n.607A= c.559+2115A= (n.559+2115A=) c.812A= (p.Lys271=) c.1079A= (p.Lys360=) c.1037A= (p.Lys346=) c.935A= (p.Lys312=) c.899A= (p.Lys300=) c.740A= (p.Lys247=) | |
1 | g.173909750T>A | CA343774110 | SERPINC1 | c.955A>T (p.Lys319Ter) n.606A>T c.559+2114A>T (n.559+2114A>T) 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) | |
1 | g.173909750T>C | CA343774112 | SERPINC1 | c.955A>G (p.Lys319Glu) n.606A>G c.559+2114A>G (n.559+2114A>G) 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) | |
1 | g.173909750T>G | CA343774108 | SERPINC1 | c.955A>C (p.Lys319Gln) n.606A>C c.559+2114A>C (n.559+2114A>C) 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) | |
1 | g.173909751G>A | CA421943001 | SERPINC1 | c.954C>T (p.Pro318=) n.605C>T c.559+2113C>T (n.559+2113C>T) 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=) | |
1 | g.173909751G>C | CA421943002 | SERPINC1 | c.954C>G (p.Pro318=) n.605C>G c.559+2113C>G (n.559+2113C>G) 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=) | |
1 | g.173909751G>T | CA421943003 | SERPINC1 | c.954C>A (p.Pro318=) n.605C>A c.559+2113C>A (n.559+2113C>A) 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=) | |
1 | g.173909752G>A | CA343774114 | SERPINC1 | c.953C>T (p.Pro318Leu) n.604C>T c.559+2112C>T (n.559+2112C>T) 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 dbSNP |
1 | g.173909752G>C | CA343774116 | SERPINC1 | c.953C>G (p.Pro318Arg) n.604C>G c.559+2112C>G (n.559+2112C>G) 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) | |
1 | g.173909752G= | CA1207936981 | SERPINC1 | c.953C= (p.Pro318=) n.604C= c.559+2112C= (n.559+2112C=) c.809C= (p.Pro270=) c.1076C= (p.Pro359=) c.1034C= (p.Pro345=) c.932C= (p.Pro311=) c.896C= (p.Pro299=) c.737C= (p.Pro246=) | |
1 | g.173909752G>T | CA343774118 | SERPINC1 | c.953C>A (p.Pro318His) n.604C>A c.559+2112C>A (n.559+2112C>A) c.809C>A (p.Pro270His) c.1076C>A (p.Pro359His) c.1034C>A (p.Pro345His) c.932C>A (p.Pro311His) c.896C>A (p.Pro299His) c.737C>A (p.Pro246His) | |
1 | g.173909753G>A | CA343774120 | SERPINC1 | c.952C>T (p.Pro318Ser) n.603C>T c.559+2111C>T (n.559+2111C>T) c.808C>T (p.Pro270Ser) c.1075C>T (p.Pro359Ser) c.1033C>T (p.Pro345Ser) c.931C>T (p.Pro311Ser) c.895C>T (p.Pro299Ser) c.736C>T (p.Pro246Ser) | |
1 | g.173909753G>C | CA1251305 | SERPINC1 | c.952C>G (p.Pro318Ala) n.603C>G c.559+2111C>G (n.559+2111C>G) c.808C>G (p.Pro270Ala) c.1075C>G (p.Pro359Ala) c.1033C>G (p.Pro345Ala) c.931C>G (p.Pro311Ala) c.895C>G (p.Pro299Ala) c.736C>G (p.Pro246Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.173909753G= | CA1207936982 | SERPINC1 | c.952C= (p.Pro318=) n.603C= c.559+2111C= (n.559+2111C=) c.808C= (p.Pro270=) c.1075C= (p.Pro359=) c.1033C= (p.Pro345=) c.931C= (p.Pro311=) c.895C= (p.Pro299=) c.736C= (p.Pro246=) | |
1 | g.173909753G>T | CA343774123 | SERPINC1 | c.952C>A (p.Pro318Thr) n.603C>A c.559+2111C>A (n.559+2111C>A) c.808C>A (p.Pro270Thr) c.1075C>A (p.Pro359Thr) c.1033C>A (p.Pro345Thr) c.931C>A (p.Pro311Thr) c.895C>A (p.Pro299Thr) c.736C>A (p.Pro246Thr) | |
1 | g.173909754C>A | CA343774127 | SERPINC1 | c.951G>T (p.Leu317Phe) n.602G>T c.559+2110G>T (n.559+2110G>T) c.807G>T (p.Leu269Phe) c.1074G>T (p.Leu358Phe) c.1032G>T (p.Leu344Phe) c.930G>T (p.Leu310Phe) c.894G>T (p.Leu298Phe) c.735G>T (p.Leu245Phe) | ClinVar dbSNP |
1 | g.173909754C= | CA1207936983 | SERPINC1 | c.951G= (p.Leu317=) n.602G= c.559+2110G= (n.559+2110G=) c.807G= (p.Leu269=) c.1074G= (p.Leu358=) c.1032G= (p.Leu344=) c.930G= (p.Leu310=) c.894G= (p.Leu298=) c.735G= (p.Leu245=) | |
1 | g.173909754C>G | CA343774125 | SERPINC1 | c.951G>C (p.Leu317Phe) n.602G>C c.559+2110G>C (n.559+2110G>C) c.807G>C (p.Leu269Phe) c.1074G>C (p.Leu358Phe) c.1032G>C (p.Leu344Phe) c.930G>C (p.Leu310Phe) c.894G>C (p.Leu298Phe) c.735G>C (p.Leu245Phe) | |
1 | g.173909754C>T | CA421943006 | SERPINC1 | c.951G>A (p.Leu317=) n.602G>A c.559+2110G>A (n.559+2110G>A) c.807G>A (p.Leu269=) c.1074G>A (p.Leu358=) c.1032G>A (p.Leu344=) c.930G>A (p.Leu310=) c.894G>A (p.Leu298=) c.735G>A (p.Leu245=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909755A>C | CA343774129 | SERPINC1 | c.950T>G (p.Leu317Trp) n.601T>G c.559+2109T>G (n.559+2109T>G) c.806T>G (p.Leu269Trp) c.1073T>G (p.Leu358Trp) c.1031T>G (p.Leu344Trp) c.929T>G (p.Leu310Trp) c.893T>G (p.Leu298Trp) c.734T>G (p.Leu245Trp) | |
1 | g.173909755A>G | CA343774131 | SERPINC1 | c.950T>C (p.Leu317Ser) n.601T>C c.559+2109T>C (n.559+2109T>C) c.806T>C (p.Leu269Ser) c.1073T>C (p.Leu358Ser) c.1031T>C (p.Leu344Ser) c.929T>C (p.Leu310Ser) c.893T>C (p.Leu298Ser) c.734T>C (p.Leu245Ser) | |
1 | g.173909755A>T | CA343774133 | SERPINC1 | c.950T>A (p.Leu317Ter) n.601T>A c.559+2109T>A (n.559+2109T>A) c.806T>A (p.Leu269Ter) c.1073T>A (p.Leu358Ter) c.1031T>A (p.Leu344Ter) c.929T>A (p.Leu310Ter) c.893T>A (p.Leu298Ter) c.734T>A (p.Leu245Ter) | |
1 | g.173909756A= | CA1207936984 | SERPINC1 | c.949T= (p.Leu317=) n.600T= c.559+2108T= (n.559+2108T=) c.805T= (p.Leu269=) c.1072T= (p.Leu358=) c.1030T= (p.Leu344=) c.928T= (p.Leu310=) c.892T= (p.Leu298=) c.733T= (p.Leu245=) | |
1 | g.173909756A>C | CA343774135 | SERPINC1 | c.949T>G (p.Leu317Val) n.600T>G c.559+2108T>G (n.559+2108T>G) c.805T>G (p.Leu269Val) c.1072T>G (p.Leu358Val) c.1030T>G (p.Leu344Val) c.928T>G (p.Leu310Val) c.892T>G (p.Leu298Val) c.733T>G (p.Leu245Val) | |
1 | g.173909756A>G | CA421943008 | SERPINC1 | c.949T>C (p.Leu317=) n.600T>C c.559+2108T>C (n.559+2108T>C) c.805T>C (p.Leu269=) c.1072T>C (p.Leu358=) c.1030T>C (p.Leu344=) c.928T>C (p.Leu310=) c.892T>C (p.Leu298=) c.733T>C (p.Leu245=) | dbSNP |
1 | g.173909756A>T | CA343774136 | SERPINC1 | c.949T>A (p.Leu317Met) n.600T>A c.559+2108T>A (n.559+2108T>A) c.805T>A (p.Leu269Met) c.1072T>A (p.Leu358Met) c.1030T>A (p.Leu344Met) c.928T>A (p.Leu310Met) c.892T>A (p.Leu298Met) c.733T>A (p.Leu245Met) | |
1 | g.173909757del | CA2586964405 | SERPINC1 | c.948del (p.Leu317CysfsTer11) n.599del c.559+2107del (n.559+2107del) c.804del (p.Leu269CysfsTer11) c.1071del (p.Leu358CysfsTer11) c.1029del (p.Leu344CysfsTer11) c.927del (p.Leu310CysfsTer11) c.891del (p.Leu298CysfsTer11) c.732del (p.Leu245CysfsTer11) | |
1 | g.173909757G>A | CA421943010 | SERPINC1 | c.948C>T (p.Ile316=) n.599C>T c.559+2107C>T (n.559+2107C>T) c.804C>T (p.Ile268=) c.1071C>T (p.Ile357=) c.1029C>T (p.Ile343=) c.927C>T (p.Ile309=) c.891C>T (p.Ile297=) c.732C>T (p.Ile244=) | |
1 | g.173909757G>C | CA343774139 | SERPINC1 | c.948C>G (p.Ile316Met) n.599C>G c.559+2107C>G (n.559+2107C>G) c.804C>G (p.Ile268Met) c.1071C>G (p.Ile357Met) c.1029C>G (p.Ile343Met) c.927C>G (p.Ile309Met) c.891C>G (p.Ile297Met) c.732C>G (p.Ile244Met) | COSMIC |
1 | g.173909757G>T | CA421943011 | SERPINC1 | c.948C>A (p.Ile316=) n.599C>A c.559+2107C>A (n.559+2107C>A) c.804C>A (p.Ile268=) c.1071C>A (p.Ile357=) c.1029C>A (p.Ile343=) c.927C>A (p.Ile309=) c.891C>A (p.Ile297=) c.732C>A (p.Ile244=) | |
1 | g.173909758A>C | CA343774141 | SERPINC1 | c.947T>G (p.Ile316Ser) n.598T>G c.559+2106T>G (n.559+2106T>G) c.803T>G (p.Ile268Ser) c.1070T>G (p.Ile357Ser) c.1028T>G (p.Ile343Ser) c.926T>G (p.Ile309Ser) c.890T>G (p.Ile297Ser) c.731T>G (p.Ile244Ser) | |
1 | g.173909758A>G | CA343774144 | SERPINC1 | c.947T>C (p.Ile316Thr) n.598T>C c.559+2106T>C (n.559+2106T>C) c.803T>C (p.Ile268Thr) c.1070T>C (p.Ile357Thr) c.1028T>C (p.Ile343Thr) c.926T>C (p.Ile309Thr) c.890T>C (p.Ile297Thr) c.731T>C (p.Ile244Thr) | |
1 | g.173909758A>T | CA343774142 | SERPINC1 | c.947T>A (p.Ile316Asn) n.598T>A c.559+2106T>A (n.559+2106T>A) c.803T>A (p.Ile268Asn) c.1070T>A (p.Ile357Asn) c.1028T>A (p.Ile343Asn) c.926T>A (p.Ile309Asn) c.890T>A (p.Ile297Asn) c.731T>A (p.Ile244Asn) | |
1 | g.173909759T>A | CA343774146 | SERPINC1 | c.946A>T (p.Ile316Phe) n.597A>T c.559+2105A>T (n.559+2105A>T) c.802A>T (p.Ile268Phe) c.1069A>T (p.Ile357Phe) c.1027A>T (p.Ile343Phe) c.925A>T (p.Ile309Phe) c.889A>T (p.Ile297Phe) c.730A>T (p.Ile244Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.173909759T>C | CA343774148 | SERPINC1 | c.946A>G (p.Ile316Val) n.597A>G c.559+2105A>G (n.559+2105A>G) c.802A>G (p.Ile268Val) c.1069A>G (p.Ile357Val) c.1027A>G (p.Ile343Val) c.925A>G (p.Ile309Val) c.889A>G (p.Ile297Val) c.730A>G (p.Ile244Val) | |
1 | g.173909759T>G | CA343774150 | SERPINC1 | c.946A>C (p.Ile316Leu) n.597A>C c.559+2105A>C (n.559+2105A>C) c.802A>C (p.Ile268Leu) c.1069A>C (p.Ile357Leu) c.1027A>C (p.Ile343Leu) c.925A>C (p.Ile309Leu) c.889A>C (p.Ile297Leu) c.730A>C (p.Ile244Leu) | |
1 | g.173909759T= | CA1207936985 | SERPINC1 | c.946A= (p.Ile316=) n.597A= c.559+2105A= (n.559+2105A=) c.802A= (p.Ile268=) c.1069A= (p.Ile357=) c.1027A= (p.Ile343=) c.925A= (p.Ile309=) c.889A= (p.Ile297=) c.730A= (p.Ile244=) | |
1 | g.173909760G>A | CA421943014 | SERPINC1 | c.945C>T (p.Leu315=) n.596C>T c.559+2104C>T (n.559+2104C>T) c.801C>T (p.Leu267=) c.1068C>T (p.Leu356=) c.1026C>T (p.Leu342=) c.924C>T (p.Leu308=) c.888C>T (p.Leu296=) c.729C>T (p.Leu243=) | |
1 | g.173909760G>C | CA421943015 | SERPINC1 | c.945C>G (p.Leu315=) n.596C>G c.559+2104C>G (n.559+2104C>G) c.801C>G (p.Leu267=) c.1068C>G (p.Leu356=) c.1026C>G (p.Leu342=) c.924C>G (p.Leu308=) c.888C>G (p.Leu296=) c.729C>G (p.Leu243=) | |
1 | g.173909760G>T | CA421943016 | SERPINC1 | c.945C>A (p.Leu315=) n.596C>A c.559+2104C>A (n.559+2104C>A) c.801C>A (p.Leu267=) c.1068C>A (p.Leu356=) c.1026C>A (p.Leu342=) c.924C>A (p.Leu308=) c.888C>A (p.Leu296=) c.729C>A (p.Leu243=) | |
1 | g.173909761A>C | CA343774152 | SERPINC1 | c.944T>G (p.Leu315Arg) n.595T>G c.559+2103T>G (n.559+2103T>G) c.800T>G (p.Leu267Arg) c.1067T>G (p.Leu356Arg) c.1025T>G (p.Leu342Arg) c.923T>G (p.Leu308Arg) c.887T>G (p.Leu296Arg) c.728T>G (p.Leu243Arg) | |
1 | g.173909761A>G | CA343774153 | SERPINC1 | c.944T>C (p.Leu315Pro) n.595T>C c.559+2103T>C (n.559+2103T>C) c.800T>C (p.Leu267Pro) c.1067T>C (p.Leu356Pro) c.1025T>C (p.Leu342Pro) c.923T>C (p.Leu308Pro) c.887T>C (p.Leu296Pro) c.728T>C (p.Leu243Pro) | |
1 | g.173909761A>T | CA343774154 | SERPINC1 | c.944T>A (p.Leu315His) n.595T>A c.559+2103T>A (n.559+2103T>A) c.800T>A (p.Leu267His) c.1067T>A (p.Leu356His) c.1025T>A (p.Leu342His) c.923T>A (p.Leu308His) c.887T>A (p.Leu296His) c.728T>A (p.Leu243His) | |
1 | g.173909762G>A | CA343774155 | SERPINC1 | c.943C>T (p.Leu315Phe) n.594C>T c.559+2102C>T (n.559+2102C>T) c.799C>T (p.Leu267Phe) c.1066C>T (p.Leu356Phe) c.1024C>T (p.Leu342Phe) c.922C>T (p.Leu308Phe) c.886C>T (p.Leu296Phe) c.727C>T (p.Leu243Phe) | |
1 | g.173909762G>C | CA343774157 | SERPINC1 | c.943C>G (p.Leu315Val) n.594C>G c.559+2102C>G (n.559+2102C>G) c.799C>G (p.Leu267Val) c.1066C>G (p.Leu356Val) c.1024C>G (p.Leu342Val) c.922C>G (p.Leu308Val) c.886C>G (p.Leu296Val) c.727C>G (p.Leu243Val) | |
1 | g.173909762G>T | CA343774158 | SERPINC1 | c.943C>A (p.Leu315Ile) n.594C>A c.559+2102C>A (n.559+2102C>A) c.799C>A (p.Leu267Ile) c.1066C>A (p.Leu356Ile) c.1024C>A (p.Leu342Ile) c.922C>A (p.Leu308Ile) c.886C>A (p.Leu296Ile) c.727C>A (p.Leu243Ile) | |
1 | g.173909763G>A | CA421942704 | SERPINC1 | c.942C>T (p.Val314=) n.593C>T c.559+2101C>T (n.559+2101C>T) c.798C>T (p.Val266=) c.1065C>T (p.Val355=) c.1023C>T (p.Val341=) c.921C>T (p.Val307=) c.885C>T (p.Val295=) c.726C>T (p.Val242=) | dbSNP gnomAD v4 |
1 | g.173909763G>C | CA421942705 | SERPINC1 | c.942C>G (p.Val314=) n.593C>G c.559+2101C>G (n.559+2101C>G) c.798C>G (p.Val266=) c.1065C>G (p.Val355=) c.1023C>G (p.Val341=) c.921C>G (p.Val307=) c.885C>G (p.Val295=) c.726C>G (p.Val242=) | dbSNP |
1 | g.173909763G= | CA1207936986 | SERPINC1 | c.942C= (p.Val314=) n.593C= c.559+2101C= (n.559+2101C=) c.798C= (p.Val266=) c.1065C= (p.Val355=) c.1023C= (p.Val341=) c.921C= (p.Val307=) c.885C= (p.Val295=) c.726C= (p.Val242=) | |
1 | g.173909763G>T | CA421942706 | SERPINC1 | c.942C>A (p.Val314=) n.593C>A c.559+2101C>A (n.559+2101C>A) c.798C>A (p.Val266=) c.1065C>A (p.Val355=) c.1023C>A (p.Val341=) c.921C>A (p.Val307=) c.885C>A (p.Val295=) c.726C>A (p.Val242=) | |
1 | g.173909764A= | CA1207936987 | SERPINC1 | c.941T= (p.Val314=) n.592T= c.559+2100T= (n.559+2100T=) c.797T= (p.Val266=) c.1064T= (p.Val355=) c.1022T= (p.Val341=) c.920T= (p.Val307=) c.884T= (p.Val295=) c.725T= (p.Val242=) | |
1 | g.173909764A>C | CA343774160 | SERPINC1 | c.941T>G (p.Val314Gly) n.592T>G c.559+2100T>G (n.559+2100T>G) c.797T>G (p.Val266Gly) c.1064T>G (p.Val355Gly) c.1022T>G (p.Val341Gly) c.920T>G (p.Val307Gly) c.884T>G (p.Val295Gly) c.725T>G (p.Val242Gly) | |
1 | g.173909764A>G | CA1251306 | SERPINC1 | c.941T>C (p.Val314Ala) n.592T>C c.559+2100T>C (n.559+2100T>C) c.797T>C (p.Val266Ala) c.1064T>C (p.Val355Ala) c.1022T>C (p.Val341Ala) c.920T>C (p.Val307Ala) c.884T>C (p.Val295Ala) c.725T>C (p.Val242Ala) | dbSNP ExAC |
1 | g.173909764A>T | CA343774162 | SERPINC1 | c.941T>A (p.Val314Asp) n.592T>A c.559+2100T>A (n.559+2100T>A) c.797T>A (p.Val266Asp) c.1064T>A (p.Val355Asp) c.1022T>A (p.Val341Asp) c.920T>A (p.Val307Asp) c.884T>A (p.Val295Asp) c.725T>A (p.Val242Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909765C>A | CA343774167 | SERPINC1 | c.940G>T (p.Val314Phe) n.591G>T c.559+2099G>T (n.559+2099G>T) c.796G>T (p.Val266Phe) c.1063G>T (p.Val355Phe) c.1021G>T (p.Val341Phe) c.919G>T (p.Val307Phe) c.883G>T (p.Val295Phe) c.724G>T (p.Val242Phe) | gnomAD v4 |
1 | g.173909765C>G | CA343774166 | SERPINC1 | c.940G>C (p.Val314Leu) n.591G>C c.559+2099G>C (n.559+2099G>C) c.796G>C (p.Val266Leu) c.1063G>C (p.Val355Leu) c.1021G>C (p.Val341Leu) c.919G>C (p.Val307Leu) c.883G>C (p.Val295Leu) c.724G>C (p.Val242Leu) | |
1 | g.173909765C>T | CA343774165 | SERPINC1 | c.940G>A (p.Val314Ile) n.591G>A c.559+2099G>A (n.559+2099G>A) c.796G>A (p.Val266Ile) c.1063G>A (p.Val355Ile) c.1021G>A (p.Val341Ile) c.919G>A (p.Val307Ile) c.883G>A (p.Val295Ile) c.724G>A (p.Val242Ile) | gnomAD v4 |
1 | g.173909766C>A | CA343774171 | SERPINC1 | c.939G>T (p.Met313Ile) n.590G>T c.559+2098G>T (n.559+2098G>T) c.795G>T (p.Met265Ile) c.1062G>T (p.Met354Ile) c.1020G>T (p.Met340Ile) c.918G>T (p.Met306Ile) c.882G>T (p.Met294Ile) c.723G>T (p.Met241Ile) | |
1 | g.173909766C>G | CA343774170 | SERPINC1 | c.939G>C (p.Met313Ile) n.590G>C c.559+2098G>C (n.559+2098G>C) c.795G>C (p.Met265Ile) c.1062G>C (p.Met354Ile) c.1020G>C (p.Met340Ile) c.918G>C (p.Met306Ile) c.882G>C (p.Met294Ile) c.723G>C (p.Met241Ile) | |
1 | g.173909766C>T | CA343774173 | SERPINC1 | c.939G>A (p.Met313Ile) n.590G>A c.559+2098G>A (n.559+2098G>A) c.795G>A (p.Met265Ile) c.1062G>A (p.Met354Ile) c.1020G>A (p.Met340Ile) c.918G>A (p.Met306Ile) c.882G>A (p.Met294Ile) c.723G>A (p.Met241Ile) | |
1 | g.173909767A= | CA1207936988 | SERPINC1 | c.938T= (p.Met313=) n.589T= c.559+2097T= (n.559+2097T=) c.794T= (p.Met265=) c.1061T= (p.Met354=) c.1019T= (p.Met340=) c.917T= (p.Met306=) c.881T= (p.Met294=) c.722T= (p.Met241=) | |
1 | g.173909767A>C | CA343774175 | SERPINC1 | c.938T>G (p.Met313Arg) n.589T>G c.559+2097T>G (n.559+2097T>G) c.794T>G (p.Met265Arg) c.1061T>G (p.Met354Arg) c.1019T>G (p.Met340Arg) c.917T>G (p.Met306Arg) c.881T>G (p.Met294Arg) c.722T>G (p.Met241Arg) | |
1 | g.173909767A>G | CA1251307 | SERPINC1 | c.938T>C (p.Met313Thr) n.589T>C c.559+2097T>C (n.559+2097T>C) c.794T>C (p.Met265Thr) c.1061T>C (p.Met354Thr) c.1019T>C (p.Met340Thr) c.917T>C (p.Met306Thr) c.881T>C (p.Met294Thr) c.722T>C (p.Met241Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909767A>T | CA343774177 | SERPINC1 | c.938T>A (p.Met313Lys) n.589T>A c.559+2097T>A (n.559+2097T>A) c.794T>A (p.Met265Lys) c.1061T>A (p.Met354Lys) c.1019T>A (p.Met340Lys) c.917T>A (p.Met306Lys) c.881T>A (p.Met294Lys) c.722T>A (p.Met241Lys) | |
1 | g.173909768T>A | CA343774180 | SERPINC1 | c.937A>T (p.Met313Leu) n.588A>T c.559+2096A>T (n.559+2096A>T) c.793A>T (p.Met265Leu) c.1060A>T (p.Met354Leu) c.1018A>T (p.Met340Leu) c.916A>T (p.Met306Leu) c.880A>T (p.Met294Leu) c.721A>T (p.Met241Leu) | |
1 | g.173909768T>C | CA343774181 | SERPINC1 | c.937A>G (p.Met313Val) n.588A>G c.559+2096A>G (n.559+2096A>G) c.793A>G (p.Met265Val) c.1060A>G (p.Met354Val) c.1018A>G (p.Met340Val) c.916A>G (p.Met306Val) c.880A>G (p.Met294Val) c.721A>G (p.Met241Val) | |
1 | g.173909768T>G | CA343774183 | SERPINC1 | c.937A>C (p.Met313Leu) n.588A>C c.559+2096A>C (n.559+2096A>C) c.793A>C (p.Met265Leu) c.1060A>C (p.Met354Leu) c.1018A>C (p.Met340Leu) c.916A>C (p.Met306Leu) c.880A>C (p.Met294Leu) c.721A>C (p.Met241Leu) | |
1 | g.173909769G>A | CA421942707 | SERPINC1 | c.936C>T (p.Thr312=) n.587C>T c.559+2095C>T (n.559+2095C>T) c.792C>T (p.Thr264=) c.1059C>T (p.Thr353=) c.1017C>T (p.Thr339=) c.915C>T (p.Thr305=) c.879C>T (p.Thr293=) c.720C>T (p.Thr240=) | |
1 | g.173909769G>C | CA421942708 | SERPINC1 | c.936C>G (p.Thr312=) n.587C>G c.559+2095C>G (n.559+2095C>G) c.792C>G (p.Thr264=) c.1059C>G (p.Thr353=) c.1017C>G (p.Thr339=) c.915C>G (p.Thr305=) c.879C>G (p.Thr293=) c.720C>G (p.Thr240=) | |
1 | g.173909769G= | CA1207936989 | SERPINC1 | c.936C= (p.Thr312=) n.587C= c.559+2095C= (n.559+2095C=) c.792C= (p.Thr264=) c.1059C= (p.Thr353=) c.1017C= (p.Thr339=) c.915C= (p.Thr305=) c.879C= (p.Thr293=) c.720C= (p.Thr240=) | |
1 | g.173909769G>T | CA1251308 | SERPINC1 | c.936C>A (p.Thr312=) n.587C>A c.559+2095C>A (n.559+2095C>A) c.792C>A (p.Thr264=) c.1059C>A (p.Thr353=) c.1017C>A (p.Thr339=) c.915C>A (p.Thr305=) c.879C>A (p.Thr293=) c.720C>A (p.Thr240=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.173909770G>A | CA1251309 | SERPINC1 | c.935C>T (p.Thr312Ile) n.586C>T c.559+2094C>T (n.559+2094C>T) c.791C>T (p.Thr264Ile) c.1058C>T (p.Thr353Ile) c.1016C>T (p.Thr339Ile) c.914C>T (p.Thr305Ile) c.878C>T (p.Thr293Ile) c.719C>T (p.Thr240Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.173909770G>C | CA343774187 | SERPINC1 | c.935C>G (p.Thr312Ser) n.586C>G c.559+2094C>G (n.559+2094C>G) c.791C>G (p.Thr264Ser) c.1058C>G (p.Thr353Ser) c.1016C>G (p.Thr339Ser) c.914C>G (p.Thr305Ser) c.878C>G (p.Thr293Ser) c.719C>G (p.Thr240Ser) | |
1 | g.173909770G= | CA1207936990 | SERPINC1 | c.935C= (p.Thr312=) n.586C= c.559+2094C= (n.559+2094C=) c.791C= (p.Thr264=) c.1058C= (p.Thr353=) c.1016C= (p.Thr339=) c.914C= (p.Thr305=) c.878C= (p.Thr293=) c.719C= (p.Thr240=) | |
1 | g.173909770G>T | CA343774189 | SERPINC1 | c.935C>A (p.Thr312Asn) n.586C>A c.559+2094C>A (n.559+2094C>A) c.791C>A (p.Thr264Asn) c.1058C>A (p.Thr353Asn) c.1016C>A (p.Thr339Asn) c.914C>A (p.Thr305Asn) c.878C>A (p.Thr293Asn) c.719C>A (p.Thr240Asn) | |
1 | g.173909771T>A | CA343774191 | SERPINC1 | c.934A>T (p.Thr312Ser) n.585A>T c.559+2093A>T (n.559+2093A>T) c.790A>T (p.Thr264Ser) c.1057A>T (p.Thr353Ser) c.1015A>T (p.Thr339Ser) c.913A>T (p.Thr305Ser) c.877A>T (p.Thr293Ser) c.718A>T (p.Thr240Ser) | |
1 | g.173909771T>C | CA343774192 | SERPINC1 | c.934A>G (p.Thr312Ala) n.585A>G c.559+2093A>G (n.559+2093A>G) c.790A>G (p.Thr264Ala) c.1057A>G (p.Thr353Ala) c.1015A>G (p.Thr339Ala) c.913A>G (p.Thr305Ala) c.877A>G (p.Thr293Ala) c.718A>G (p.Thr240Ala) | COSMIC |
1 | g.173909771T>G | CA343774194 | SERPINC1 | c.934A>C (p.Thr312Pro) n.585A>C c.559+2093A>C (n.559+2093A>C) c.790A>C (p.Thr264Pro) c.1057A>C (p.Thr353Pro) c.1015A>C (p.Thr339Pro) c.913A>C (p.Thr305Pro) c.877A>C (p.Thr293Pro) c.718A>C (p.Thr240Pro) | |
1 | g.173909772G>A | CA421942709 | SERPINC1 | c.933C>T (p.Ile311=) n.584C>T c.559+2092C>T (n.559+2092C>T) c.789C>T (p.Ile263=) c.1056C>T (p.Ile352=) c.1014C>T (p.Ile338=) c.912C>T (p.Ile304=) c.876C>T (p.Ile292=) c.717C>T (p.Ile239=) | gnomAD v4 |
1 | g.173909772G>C | CA343774195 | SERPINC1 | c.933C>G (p.Ile311Met) n.584C>G c.559+2092C>G (n.559+2092C>G) c.789C>G (p.Ile263Met) c.1056C>G (p.Ile352Met) c.1014C>G (p.Ile338Met) c.912C>G (p.Ile304Met) c.876C>G (p.Ile292Met) c.717C>G (p.Ile239Met) | |
1 | g.173909772G>T | CA421942710 | SERPINC1 | c.933C>A (p.Ile311=) n.584C>A c.559+2092C>A (n.559+2092C>A) c.789C>A (p.Ile263=) c.1056C>A (p.Ile352=) c.1014C>A (p.Ile338=) c.912C>A (p.Ile304=) c.876C>A (p.Ile292=) c.717C>A (p.Ile239=) | |
1 | g.173909773A>C | CA343774197 | SERPINC1 | c.932T>G (p.Ile311Ser) n.583T>G c.559+2091T>G (n.559+2091T>G) c.788T>G (p.Ile263Ser) c.1055T>G (p.Ile352Ser) c.1013T>G (p.Ile338Ser) c.911T>G (p.Ile304Ser) c.875T>G (p.Ile292Ser) c.716T>G (p.Ile239Ser) | |
1 | g.173909773A>G | CA343774199 | SERPINC1 | c.932T>C (p.Ile311Thr) n.583T>C c.559+2091T>C (n.559+2091T>C) c.788T>C (p.Ile263Thr) c.1055T>C (p.Ile352Thr) c.1013T>C (p.Ile338Thr) c.911T>C (p.Ile304Thr) c.875T>C (p.Ile292Thr) c.716T>C (p.Ile239Thr) | gnomAD v4 |
1 | g.173909773A>T | CA343774201 | SERPINC1 | c.932T>A (p.Ile311Asn) n.583T>A c.559+2091T>A (n.559+2091T>A) c.788T>A (p.Ile263Asn) c.1055T>A (p.Ile352Asn) c.1013T>A (p.Ile338Asn) c.911T>A (p.Ile304Asn) c.875T>A (p.Ile292Asn) c.716T>A (p.Ile239Asn) | |
1 | g.173909774T>A | CA343774203 | SERPINC1 | c.931A>T (p.Ile311Phe) n.582A>T c.559+2090A>T (n.559+2090A>T) c.787A>T (p.Ile263Phe) c.1054A>T (p.Ile352Phe) c.1012A>T (p.Ile338Phe) c.910A>T (p.Ile304Phe) c.874A>T (p.Ile292Phe) c.715A>T (p.Ile239Phe) | |
1 | g.173909774T>C | CA343774205 | SERPINC1 | c.931A>G (p.Ile311Val) n.582A>G c.559+2090A>G (n.559+2090A>G) c.787A>G (p.Ile263Val) c.1054A>G (p.Ile352Val) c.1012A>G (p.Ile338Val) c.910A>G (p.Ile304Val) c.874A>G (p.Ile292Val) c.715A>G (p.Ile239Val) | |
1 | g.173909774T>G | CA343774206 | SERPINC1 | c.931A>C (p.Ile311Leu) n.582A>C c.559+2090A>C (n.559+2090A>C) c.787A>C (p.Ile263Leu) c.1054A>C (p.Ile352Leu) c.1012A>C (p.Ile338Leu) c.910A>C (p.Ile304Leu) c.874A>C (p.Ile292Leu) c.715A>C (p.Ile239Leu) | |
1 | g.173909775G>A | CA421942711 | SERPINC1 | c.930C>T (p.Asp310=) n.581C>T c.559+2089C>T (n.559+2089C>T) c.786C>T (p.Asp262=) c.1053C>T (p.Asp351=) c.1011C>T (p.Asp337=) c.909C>T (p.Asp303=) c.873C>T (p.Asp291=) c.714C>T (p.Asp238=) | |
1 | g.173909775G>C | CA343774208 | SERPINC1 | c.930C>G (p.Asp310Glu) n.581C>G c.559+2089C>G (n.559+2089C>G) c.786C>G (p.Asp262Glu) c.1053C>G (p.Asp351Glu) c.1011C>G (p.Asp337Glu) c.909C>G (p.Asp303Glu) c.873C>G (p.Asp291Glu) c.714C>G (p.Asp238Glu) | COSMIC |
1 | g.173909775G>T | CA343774210 | SERPINC1 | c.930C>A (p.Asp310Glu) n.581C>A c.559+2089C>A (n.559+2089C>A) c.786C>A (p.Asp262Glu) c.1053C>A (p.Asp351Glu) c.1011C>A (p.Asp337Glu) c.909C>A (p.Asp303Glu) c.873C>A (p.Asp291Glu) c.714C>A (p.Asp238Glu) | |
1 | g.173909776T>A | CA343774212 | SERPINC1 | c.929A>T (p.Asp310Val) n.580A>T c.559+2088A>T (n.559+2088A>T) c.785A>T (p.Asp262Val) c.1052A>T (p.Asp351Val) c.1010A>T (p.Asp337Val) c.908A>T (p.Asp303Val) c.872A>T (p.Asp291Val) c.713A>T (p.Asp238Val) | |
1 | g.173909776T>C | CA343774214 | SERPINC1 | c.929A>G (p.Asp310Gly) n.580A>G c.559+2088A>G (n.559+2088A>G) c.785A>G (p.Asp262Gly) c.1052A>G (p.Asp351Gly) c.1010A>G (p.Asp337Gly) c.908A>G (p.Asp303Gly) c.872A>G (p.Asp291Gly) c.713A>G (p.Asp238Gly) | |
1 | g.173909776T>G | CA343774216 | SERPINC1 | c.929A>C (p.Asp310Ala) n.580A>C c.559+2088A>C (n.559+2088A>C) c.785A>C (p.Asp262Ala) c.1052A>C (p.Asp351Ala) c.1010A>C (p.Asp337Ala) c.908A>C (p.Asp303Ala) c.872A>C (p.Asp291Ala) c.713A>C (p.Asp238Ala) | |
1 | g.173909777C>A | CA343774217 | SERPINC1 | c.928G>T (p.Asp310Tyr) n.579G>T c.559+2087G>T (n.559+2087G>T) c.784G>T (p.Asp262Tyr) c.1051G>T (p.Asp351Tyr) c.1009G>T (p.Asp337Tyr) c.907G>T (p.Asp303Tyr) c.871G>T (p.Asp291Tyr) c.712G>T (p.Asp238Tyr) | gnomAD v4 |
1 | g.173909777C>G | CA343774219 | SERPINC1 | c.928G>C (p.Asp310His) n.579G>C c.559+2087G>C (n.559+2087G>C) c.784G>C (p.Asp262His) c.1051G>C (p.Asp351His) c.1009G>C (p.Asp337His) c.907G>C (p.Asp303His) c.871G>C (p.Asp291His) c.712G>C (p.Asp238His) | |
1 | g.173909777C>T | CA343774220 | SERPINC1 | c.928G>A (p.Asp310Asn) n.579G>A c.559+2087G>A (n.559+2087G>A) c.784G>A (p.Asp262Asn) c.1051G>A (p.Asp351Asn) c.1009G>A (p.Asp337Asn) c.907G>A (p.Asp303Asn) c.871G>A (p.Asp291Asn) c.712G>A (p.Asp238Asn) | |
1 | g.173909778A= | CA1149156605 | SERPINC1 | c.927T= (p.Asp309=) n.578T= c.559+2086T= (n.559+2086T=) c.783T= (p.Asp261=) c.1050T= (p.Asp350=) c.1008T= (p.Asp336=) c.906T= (p.Asp302=) c.870T= (p.Asp290=) c.711T= (p.Asp237=) | |
1 | g.173909778A>C | CA343774222 | SERPINC1 | c.927T>G (p.Asp309Glu) n.578T>G c.559+2086T>G (n.559+2086T>G) c.783T>G (p.Asp261Glu) c.1050T>G (p.Asp350Glu) c.1008T>G (p.Asp336Glu) c.906T>G (p.Asp302Glu) c.870T>G (p.Asp290Glu) c.711T>G (p.Asp237Glu) | |
1 | g.173909778A>G | CA1251310 | SERPINC1 | c.927T>C (p.Asp309=) n.578T>C c.559+2086T>C (n.559+2086T>C) c.783T>C (p.Asp261=) c.1050T>C (p.Asp350=) c.1008T>C (p.Asp336=) c.906T>C (p.Asp302=) c.870T>C (p.Asp290=) c.711T>C (p.Asp237=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.173909778A>T | CA343774223 | SERPINC1 | c.927T>A (p.Asp309Glu) n.578T>A c.559+2086T>A (n.559+2086T>A) c.783T>A (p.Asp261Glu) c.1050T>A (p.Asp350Glu) c.1008T>A (p.Asp336Glu) c.906T>A (p.Asp302Glu) c.870T>A (p.Asp290Glu) c.711T>A (p.Asp237Glu) | dbSNP |
1 | g.173909779T>A | CA343774226 | SERPINC1 | c.926A>T (p.Asp309Val) n.577A>T c.559+2085A>T (n.559+2085A>T) c.782A>T (p.Asp261Val) c.1049A>T (p.Asp350Val) c.1007A>T (p.Asp336Val) c.905A>T (p.Asp302Val) c.869A>T (p.Asp290Val) c.710A>T (p.Asp237Val) | |
1 | g.173909779T>C | CA343774228 | SERPINC1 | c.926A>G (p.Asp309Gly) n.577A>G c.559+2085A>G (n.559+2085A>G) c.782A>G (p.Asp261Gly) c.1049A>G (p.Asp350Gly) c.1007A>G (p.Asp336Gly) c.905A>G (p.Asp302Gly) c.869A>G (p.Asp290Gly) c.710A>G (p.Asp237Gly) | |
1 | g.173909779T>G | CA343774229 | SERPINC1 | c.926A>C (p.Asp309Ala) n.577A>C c.559+2085A>C (n.559+2085A>C) c.782A>C (p.Asp261Ala) c.1049A>C (p.Asp350Ala) c.1007A>C (p.Asp336Ala) c.905A>C (p.Asp302Ala) c.869A>C (p.Asp290Ala) c.710A>C (p.Asp237Ala) | |
1 | g.173909780C>A | CA343774231 | SERPINC1 | c.925G>T (p.Asp309Tyr) n.576G>T c.559+2084G>T (n.559+2084G>T) c.781G>T (p.Asp261Tyr) c.1048G>T (p.Asp350Tyr) c.1006G>T (p.Asp336Tyr) c.904G>T (p.Asp302Tyr) c.868G>T (p.Asp290Tyr) c.709G>T (p.Asp237Tyr) | |
1 | g.173909780C>G | CA343774233 | SERPINC1 | c.925G>C (p.Asp309His) n.576G>C c.559+2084G>C (n.559+2084G>C) c.781G>C (p.Asp261His) c.1048G>C (p.Asp350His) c.1006G>C (p.Asp336His) c.904G>C (p.Asp302His) c.868G>C (p.Asp290His) c.709G>C (p.Asp237His) | |
1 | g.173909780C>T | CA343774235 | SERPINC1 | c.925G>A (p.Asp309Asn) n.576G>A c.559+2084G>A (n.559+2084G>A) c.781G>A (p.Asp261Asn) c.1048G>A (p.Asp350Asn) c.1006G>A (p.Asp336Asn) c.904G>A (p.Asp302Asn) c.868G>A (p.Asp290Asn) c.709G>A (p.Asp237Asn) | ClinVar gnomAD v4 |
1 | g.173909781A= | CA1207936991 | SERPINC1 | c.924T= (p.Gly308=) n.575T= c.559+2083T= (n.559+2083T=) c.780T= (p.Gly260=) c.1047T= (p.Gly349=) c.1005T= (p.Gly335=) c.903T= (p.Gly301=) c.867T= (p.Gly289=) c.708T= (p.Gly236=) | |
1 | g.173909781A>C | CA421942712 | SERPINC1 | c.924T>G (p.Gly308=) n.575T>G c.559+2083T>G (n.559+2083T>G) c.780T>G (p.Gly260=) c.1047T>G (p.Gly349=) c.1005T>G (p.Gly335=) c.903T>G (p.Gly301=) c.867T>G (p.Gly289=) c.708T>G (p.Gly236=) | dbSNP |
1 | g.173909781A>G | CA421942713 | SERPINC1 | c.924T>C (p.Gly308=) n.575T>C c.559+2083T>C (n.559+2083T>C) c.780T>C (p.Gly260=) c.1047T>C (p.Gly349=) c.1005T>C (p.Gly335=) c.903T>C (p.Gly301=) c.867T>C (p.Gly289=) c.708T>C (p.Gly236=) | |
1 | g.173909781A>T | CA421942714 | SERPINC1 | c.924T>A (p.Gly308=) n.575T>A c.559+2083T>A (n.559+2083T>A) c.780T>A (p.Gly260=) c.1047T>A (p.Gly349=) c.1005T>A (p.Gly335=) c.903T>A (p.Gly301=) c.867T>A (p.Gly289=) c.708T>A (p.Gly236=) | |
1 | g.173909782C>A | CA343774241 | SERPINC1 | c.923G>T (p.Gly308Val) n.574G>T c.559+2082G>T (n.559+2082G>T) c.779G>T (p.Gly260Val) c.1046G>T (p.Gly349Val) c.1004G>T (p.Gly335Val) c.902G>T (p.Gly301Val) c.866G>T (p.Gly289Val) c.707G>T (p.Gly236Val) | |
1 | g.173909782C>G | CA343774237 | SERPINC1 | c.923G>C (p.Gly308Ala) n.574G>C c.559+2082G>C (n.559+2082G>C) c.779G>C (p.Gly260Ala) c.1046G>C (p.Gly349Ala) c.1004G>C (p.Gly335Ala) c.902G>C (p.Gly301Ala) c.866G>C (p.Gly289Ala) c.707G>C (p.Gly236Ala) | |
1 | g.173909782C>T | CA343774239 | SERPINC1 | c.923G>A (p.Gly308Asp) n.574G>A c.559+2082G>A (n.559+2082G>A) c.779G>A (p.Gly260Asp) c.1046G>A (p.Gly349Asp) c.1004G>A (p.Gly335Asp) c.902G>A (p.Gly301Asp) c.866G>A (p.Gly289Asp) c.707G>A (p.Gly236Asp) | |
1 | g.173909783C>A | CA343774243 | SERPINC1 | c.922G>T (p.Gly308Cys) n.573G>T c.559+2081G>T (n.559+2081G>T) c.778G>T (p.Gly260Cys) c.1045G>T (p.Gly349Cys) c.1003G>T (p.Gly335Cys) c.901G>T (p.Gly301Cys) c.865G>T (p.Gly289Cys) c.706G>T (p.Gly236Cys) | |
1 | g.173909783C= | CA1207936992 | SERPINC1 | c.922G= (p.Gly308=) n.573G= c.559+2081G= (n.559+2081G=) c.778G= (p.Gly260=) c.1045G= (p.Gly349=) c.1003G= (p.Gly335=) c.901G= (p.Gly301=) c.865G= (p.Gly289=) c.706G= (p.Gly236=) | |
1 | g.173909783C>G | CA343774244 | SERPINC1 | c.922G>C (p.Gly308Arg) n.573G>C c.559+2081G>C (n.559+2081G>C) c.778G>C (p.Gly260Arg) c.1045G>C (p.Gly349Arg) c.1003G>C (p.Gly335Arg) c.901G>C (p.Gly301Arg) c.865G>C (p.Gly289Arg) c.706G>C (p.Gly236Arg) | |
1 | g.173909783C>T | CA343774246 | SERPINC1 | c.922G>A (p.Gly308Ser) n.573G>A c.559+2081G>A (n.559+2081G>A) c.778G>A (p.Gly260Ser) c.1045G>A (p.Gly349Ser) c.1003G>A (p.Gly335Ser) c.901G>A (p.Gly301Ser) c.865G>A (p.Gly289Ser) c.706G>A (p.Gly236Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909784T>A | CA343774248 | SERPINC1 | c.921A>T (p.Lys307Asn) n.572A>T c.559+2080A>T (n.559+2080A>T) c.777A>T (p.Lys259Asn) c.1044A>T (p.Lys348Asn) c.1002A>T (p.Lys334Asn) c.900A>T (p.Lys300Asn) c.864A>T (p.Lys288Asn) c.705A>T (p.Lys235Asn) | |
1 | g.173909784T>C | CA421942715 | SERPINC1 | c.921A>G (p.Lys307=) n.572A>G c.559+2080A>G (n.559+2080A>G) c.777A>G (p.Lys259=) c.1044A>G (p.Lys348=) c.1002A>G (p.Lys334=) c.900A>G (p.Lys300=) c.864A>G (p.Lys288=) c.705A>G (p.Lys235=) | dbSNP gnomAD v4 |
1 | g.173909784T>G | CA343774249 | SERPINC1 | c.921A>C (p.Lys307Asn) n.572A>C c.559+2080A>C (n.559+2080A>C) c.777A>C (p.Lys259Asn) c.1044A>C (p.Lys348Asn) c.1002A>C (p.Lys334Asn) c.900A>C (p.Lys300Asn) c.864A>C (p.Lys288Asn) c.705A>C (p.Lys235Asn) | |
1 | g.173909784T= | CA1207936993 | SERPINC1 | c.921A= (p.Lys307=) n.572A= c.559+2080A= (n.559+2080A=) c.777A= (p.Lys259=) c.1044A= (p.Lys348=) c.1002A= (p.Lys334=) c.900A= (p.Lys300=) c.864A= (p.Lys288=) c.705A= (p.Lys235=) | |
1 | g.173909784_173909888del | CA2586964406 | SERPINC1 | c.817_921del (p.Lys273_Lys307del) n.468_572del c.559+1976_559+2080del (n.559+1976_559+2080del) c.673_777del (p.Lys225_Lys259del) c.940_1044del (p.Lys314_Lys348del) c.898_1002del (p.Lys300_Lys334del) c.796_900del (p.Lys266_Lys300del) c.763-3_864del c.601_705del (p.Lys201_Lys235del) | |
1 | g.173909785T>A | CA343774251 | SERPINC1 | c.920A>T (p.Lys307Ile) n.571A>T c.559+2079A>T (n.559+2079A>T) c.776A>T (p.Lys259Ile) c.1043A>T (p.Lys348Ile) c.1001A>T (p.Lys334Ile) c.899A>T (p.Lys300Ile) c.863A>T (p.Lys288Ile) c.704A>T (p.Lys235Ile) | |
1 | g.173909785T>C | CA343774254 | SERPINC1 | c.920A>G (p.Lys307Arg) n.571A>G c.559+2079A>G (n.559+2079A>G) c.776A>G (p.Lys259Arg) c.1043A>G (p.Lys348Arg) c.1001A>G (p.Lys334Arg) c.899A>G (p.Lys300Arg) c.863A>G (p.Lys288Arg) c.704A>G (p.Lys235Arg) | gnomAD v4 |
1 | g.173909785T>G | CA343774253 | SERPINC1 | c.920A>C (p.Lys307Thr) n.571A>C c.559+2079A>C (n.559+2079A>C) c.776A>C (p.Lys259Thr) c.1043A>C (p.Lys348Thr) c.1001A>C (p.Lys334Thr) c.899A>C (p.Lys300Thr) c.863A>C (p.Lys288Thr) c.704A>C (p.Lys235Thr) | |
1 | g.173909786T>A | CA343774256 | SERPINC1 | c.919A>T (p.Lys307Ter) n.570A>T c.559+2078A>T (n.559+2078A>T) c.775A>T (p.Lys259Ter) c.1042A>T (p.Lys348Ter) c.1000A>T (p.Lys334Ter) c.898A>T (p.Lys300Ter) c.862A>T (p.Lys288Ter) c.703A>T (p.Lys235Ter) | |
1 | g.173909786T>C | CA343774257 | SERPINC1 | c.919A>G (p.Lys307Glu) n.570A>G c.559+2078A>G (n.559+2078A>G) c.775A>G (p.Lys259Glu) c.1042A>G (p.Lys348Glu) c.1000A>G (p.Lys334Glu) c.898A>G (p.Lys300Glu) c.862A>G (p.Lys288Glu) c.703A>G (p.Lys235Glu) | |
1 | g.173909786T>G | CA343774258 | SERPINC1 | c.919A>C (p.Lys307Gln) n.570A>C c.559+2078A>C (n.559+2078A>C) c.775A>C (p.Lys259Gln) c.1042A>C (p.Lys348Gln) c.1000A>C (p.Lys334Gln) c.898A>C (p.Lys300Gln) c.862A>C (p.Lys288Gln) c.703A>C (p.Lys235Gln) | |
1 | g.173909787G>A | CA421942716 | SERPINC1 | c.918C>T (p.Phe306=) n.569C>T c.559+2077C>T (n.559+2077C>T) c.774C>T (p.Phe258=) c.1041C>T (p.Phe347=) c.999C>T (p.Phe333=) c.897C>T (p.Phe299=) c.861C>T (p.Phe287=) c.702C>T (p.Phe234=) | |
1 | g.173909787G>C | CA343774260 | SERPINC1 | c.918C>G (p.Phe306Leu) n.569C>G c.559+2077C>G (n.559+2077C>G) c.774C>G (p.Phe258Leu) c.1041C>G (p.Phe347Leu) c.999C>G (p.Phe333Leu) c.897C>G (p.Phe299Leu) c.861C>G (p.Phe287Leu) c.702C>G (p.Phe234Leu) | |
1 | g.173909787G>T | CA343774262 | SERPINC1 | c.918C>A (p.Phe306Leu) n.569C>A c.559+2077C>A (n.559+2077C>A) c.774C>A (p.Phe258Leu) c.1041C>A (p.Phe347Leu) c.999C>A (p.Phe333Leu) c.897C>A (p.Phe299Leu) c.861C>A (p.Phe287Leu) c.702C>A (p.Phe234Leu) | |
1 | g.173909788A>C | CA343774264 | SERPINC1 | c.917T>G (p.Phe306Cys) n.568T>G c.559+2076T>G (n.559+2076T>G) c.773T>G (p.Phe258Cys) c.1040T>G (p.Phe347Cys) c.998T>G (p.Phe333Cys) c.896T>G (p.Phe299Cys) c.860T>G (p.Phe287Cys) c.701T>G (p.Phe234Cys) | |
1 | g.173909788A>G | CA343774266 | SERPINC1 | c.917T>C (p.Phe306Ser) n.568T>C c.559+2076T>C (n.559+2076T>C) c.773T>C (p.Phe258Ser) c.1040T>C (p.Phe347Ser) c.998T>C (p.Phe333Ser) c.896T>C (p.Phe299Ser) c.860T>C (p.Phe287Ser) c.701T>C (p.Phe234Ser) | |
1 | g.173909788A>T | CA343774268 | SERPINC1 | c.917T>A (p.Phe306Tyr) n.568T>A c.559+2076T>A (n.559+2076T>A) c.773T>A (p.Phe258Tyr) c.1040T>A (p.Phe347Tyr) c.998T>A (p.Phe333Tyr) c.896T>A (p.Phe299Tyr) c.860T>A (p.Phe287Tyr) c.701T>A (p.Phe234Tyr) | |
1 | g.173909789A= | CA1207936994 | SERPINC1 | c.916T= (p.Phe306=) n.567T= c.559+2075T= (n.559+2075T=) c.772T= (p.Phe258=) c.1039T= (p.Phe347=) c.997T= (p.Phe333=) c.895T= (p.Phe299=) c.859T= (p.Phe287=) c.700T= (p.Phe234=) | |
1 | g.173909789A>C | CA343774270 | SERPINC1 | c.916T>G (p.Phe306Val) n.567T>G c.559+2075T>G (n.559+2075T>G) c.772T>G (p.Phe258Val) c.1039T>G (p.Phe347Val) c.997T>G (p.Phe333Val) c.895T>G (p.Phe299Val) c.859T>G (p.Phe287Val) c.700T>G (p.Phe234Val) | |
1 | g.173909789A>G | CA343774272 | SERPINC1 | c.916T>C (p.Phe306Leu) n.567T>C c.559+2075T>C (n.559+2075T>C) c.772T>C (p.Phe258Leu) c.1039T>C (p.Phe347Leu) c.997T>C (p.Phe333Leu) c.895T>C (p.Phe299Leu) c.859T>C (p.Phe287Leu) c.700T>C (p.Phe234Leu) | |
1 | g.173909789A>T | CA343774274 | SERPINC1 | c.916T>A (p.Phe306Ile) n.567T>A c.559+2075T>A (n.559+2075T>A) c.772T>A (p.Phe258Ile) c.1039T>A (p.Phe347Ile) c.997T>A (p.Phe333Ile) c.895T>A (p.Phe299Ile) c.859T>A (p.Phe287Ile) c.700T>A (p.Phe234Ile) | |
1 | g.173909790G>A | CA421942719 | SERPINC1 | c.915C>T (p.Pro305=) n.566C>T c.559+2074C>T (n.559+2074C>T) c.771C>T (p.Pro257=) c.1038C>T (p.Pro346=) c.996C>T (p.Pro332=) c.894C>T (p.Pro298=) c.858C>T (p.Pro286=) c.699C>T (p.Pro233=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909790G>C | CA421942718 | SERPINC1 | c.915C>G (p.Pro305=) n.566C>G c.559+2074C>G (n.559+2074C>G) c.771C>G (p.Pro257=) c.1038C>G (p.Pro346=) c.996C>G (p.Pro332=) c.894C>G (p.Pro298=) c.858C>G (p.Pro286=) c.699C>G (p.Pro233=) | |
1 | g.173909790G= | CA1207936995 | SERPINC1 | c.915C= (p.Pro305=) n.566C= c.559+2074C= (n.559+2074C=) c.771C= (p.Pro257=) c.1038C= (p.Pro346=) c.996C= (p.Pro332=) c.894C= (p.Pro298=) c.858C= (p.Pro286=) c.699C= (p.Pro233=) | |
1 | g.173909790G>T | CA421942717 | SERPINC1 | c.915C>A (p.Pro305=) n.566C>A c.559+2074C>A (n.559+2074C>A) c.771C>A (p.Pro257=) c.1038C>A (p.Pro346=) c.996C>A (p.Pro332=) c.894C>A (p.Pro298=) c.858C>A (p.Pro286=) c.699C>A (p.Pro233=) | |
1 | g.173909792dup | CA891313347 | SERPINC1 | c.915dup (p.Phe306LeufsTer4) n.566dup c.559+2074dup (n.559+2074dup) c.771dup (p.Phe258LeufsTer4) c.1038dup (p.Phe347LeufsTer4) c.996dup (p.Phe333LeufsTer4) c.894dup (p.Phe299LeufsTer4) c.858dup (p.Phe287LeufsTer4) c.699dup (p.Phe234LeufsTer4) | dbSNP |
1 | g.173909791G>A | CA1251312 | SERPINC1 | c.914C>T (p.Pro305Leu) n.565C>T c.559+2073C>T (n.559+2073C>T) c.770C>T (p.Pro257Leu) c.1037C>T (p.Pro346Leu) c.995C>T (p.Pro332Leu) c.893C>T (p.Pro298Leu) c.857C>T (p.Pro286Leu) c.698C>T (p.Pro233Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909791G>C | CA343774277 | SERPINC1 | c.914C>G (p.Pro305Arg) n.565C>G c.559+2073C>G (n.559+2073C>G) c.770C>G (p.Pro257Arg) c.1037C>G (p.Pro346Arg) c.995C>G (p.Pro332Arg) c.893C>G (p.Pro298Arg) c.857C>G (p.Pro286Arg) c.698C>G (p.Pro233Arg) | |
1 | g.173909791G= | CA1145968789 | SERPINC1 | c.914C= (p.Pro305=) n.565C= c.559+2073C= (n.559+2073C=) c.770C= (p.Pro257=) c.1037C= (p.Pro346=) c.995C= (p.Pro332=) c.893C= (p.Pro298=) c.857C= (p.Pro286=) c.698C= (p.Pro233=) | |
1 | g.173909791G>T | CA1251311 | SERPINC1 | c.914C>A (p.Pro305His) n.565C>A c.559+2073C>A (n.559+2073C>A) c.770C>A (p.Pro257His) c.1037C>A (p.Pro346His) c.995C>A (p.Pro332His) c.893C>A (p.Pro298His) c.857C>A (p.Pro286His) c.698C>A (p.Pro233His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909792G>A | CA343774279 | SERPINC1 | c.913C>T (p.Pro305Ser) n.564C>T c.559+2072C>T (n.559+2072C>T) c.769C>T (p.Pro257Ser) c.1036C>T (p.Pro346Ser) c.994C>T (p.Pro332Ser) c.892C>T (p.Pro298Ser) c.856C>T (p.Pro286Ser) c.697C>T (p.Pro233Ser) | gnomAD v4 |
1 | g.173909792G>C | CA343774282 | SERPINC1 | c.913C>G (p.Pro305Ala) n.564C>G c.559+2072C>G (n.559+2072C>G) c.769C>G (p.Pro257Ala) c.1036C>G (p.Pro346Ala) c.994C>G (p.Pro332Ala) c.892C>G (p.Pro298Ala) c.856C>G (p.Pro286Ala) c.697C>G (p.Pro233Ala) | |
1 | g.173909792G= | CA1207936996 | SERPINC1 | c.913C= (p.Pro305=) n.564C= c.559+2072C= (n.559+2072C=) c.769C= (p.Pro257=) c.1036C= (p.Pro346=) c.994C= (p.Pro332=) c.892C= (p.Pro298=) c.856C= (p.Pro286=) c.697C= (p.Pro233=) | |
1 | g.173909792G>T | CA343774281 | SERPINC1 | c.913C>A (p.Pro305Thr) n.564C>A c.559+2072C>A (n.559+2072C>A) c.769C>A (p.Pro257Thr) c.1036C>A (p.Pro346Thr) c.994C>A (p.Pro332Thr) c.892C>A (p.Pro298Thr) c.856C>A (p.Pro286Thr) c.697C>A (p.Pro233Thr) | dbSNP |
1 | g.173909793C>A | CA343774284 | SERPINC1 | c.912G>T (p.Leu304Phe) n.563G>T c.559+2071G>T (n.559+2071G>T) c.768G>T (p.Leu256Phe) c.1035G>T (p.Leu345Phe) c.993G>T (p.Leu331Phe) c.891G>T (p.Leu297Phe) c.855G>T (p.Leu285Phe) c.696G>T (p.Leu232Phe) | COSMIC |
1 | g.173909793C>G | CA343774285 | SERPINC1 | c.912G>C (p.Leu304Phe) n.563G>C c.559+2071G>C (n.559+2071G>C) c.768G>C (p.Leu256Phe) c.1035G>C (p.Leu345Phe) c.993G>C (p.Leu331Phe) c.891G>C (p.Leu297Phe) c.855G>C (p.Leu285Phe) c.696G>C (p.Leu232Phe) | |
1 | g.173909793C>T | CA421942720 | SERPINC1 | c.912G>A (p.Leu304=) n.563G>A c.559+2071G>A (n.559+2071G>A) c.768G>A (p.Leu256=) c.1035G>A (p.Leu345=) c.993G>A (p.Leu331=) c.891G>A (p.Leu297=) c.855G>A (p.Leu285=) c.696G>A (p.Leu232=) | |
1 | g.173909794A>C | CA343774288 | SERPINC1 | c.911T>G (p.Leu304Trp) n.562T>G c.559+2070T>G (n.559+2070T>G) c.767T>G (p.Leu256Trp) c.1034T>G (p.Leu345Trp) c.992T>G (p.Leu331Trp) c.890T>G (p.Leu297Trp) c.854T>G (p.Leu285Trp) c.695T>G (p.Leu232Trp) | |
1 | g.173909794A>G | CA343774289 | SERPINC1 | c.911T>C (p.Leu304Ser) n.562T>C c.559+2070T>C (n.559+2070T>C) c.767T>C (p.Leu256Ser) c.1034T>C (p.Leu345Ser) c.992T>C (p.Leu331Ser) c.890T>C (p.Leu297Ser) c.854T>C (p.Leu285Ser) c.695T>C (p.Leu232Ser) | |
1 | g.173909794A>T | CA343774291 | SERPINC1 | c.911T>A (p.Leu304Ter) n.562T>A c.559+2070T>A (n.559+2070T>A) c.767T>A (p.Leu256Ter) c.1034T>A (p.Leu345Ter) c.992T>A (p.Leu331Ter) c.890T>A (p.Leu297Ter) c.854T>A (p.Leu285Ter) c.695T>A (p.Leu232Ter) | |
1 | g.173909795A= | CA1142368681 | SERPINC1 | c.910T= (p.Leu304=) n.561T= c.559+2069T= (n.559+2069T=) c.766T= (p.Leu256=) c.1033T= (p.Leu345=) c.991T= (p.Leu331=) c.889T= (p.Leu297=) c.853T= (p.Leu285=) c.694T= (p.Leu232=) | |
1 | g.173909795A>C | CA343774293 | SERPINC1 | c.910T>G (p.Leu304Val) n.561T>G c.559+2069T>G (n.559+2069T>G) c.766T>G (p.Leu256Val) c.1033T>G (p.Leu345Val) c.991T>G (p.Leu331Val) c.889T>G (p.Leu297Val) c.853T>G (p.Leu285Val) c.694T>G (p.Leu232Val) | |
1 | g.173909795A>G | CA1251313 | SERPINC1 | c.910T>C (p.Leu304=) n.561T>C c.559+2069T>C (n.559+2069T>C) c.766T>C (p.Leu256=) c.1033T>C (p.Leu345=) c.991T>C (p.Leu331=) c.889T>C (p.Leu297=) c.853T>C (p.Leu285=) c.694T>C (p.Leu232=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909795A>T | CA343774295 | SERPINC1 | c.910T>A (p.Leu304Met) n.561T>A c.559+2069T>A (n.559+2069T>A) c.766T>A (p.Leu256Met) c.1033T>A (p.Leu345Met) c.991T>A (p.Leu331Met) c.889T>A (p.Leu297Met) c.853T>A (p.Leu285Met) c.694T>A (p.Leu232Met) | |
1 | g.173909796C>A | CA343774297 | SERPINC1 | c.909G>T (p.Glu303Asp) n.560G>T c.559+2068G>T (n.559+2068G>T) c.765G>T (p.Glu255Asp) c.1032G>T (p.Glu344Asp) c.990G>T (p.Glu330Asp) c.888G>T (p.Glu296Asp) c.852G>T (p.Glu284Asp) c.693G>T (p.Glu231Asp) | |
1 | g.173909796C>G | CA343774298 | SERPINC1 | c.909G>C (p.Glu303Asp) n.560G>C c.559+2068G>C (n.559+2068G>C) c.765G>C (p.Glu255Asp) c.1032G>C (p.Glu344Asp) c.990G>C (p.Glu330Asp) c.888G>C (p.Glu296Asp) c.852G>C (p.Glu284Asp) c.693G>C (p.Glu231Asp) | |
1 | g.173909796C>T | CA421942721 | SERPINC1 | c.909G>A (p.Glu303=) n.560G>A c.559+2068G>A (n.559+2068G>A) c.765G>A (p.Glu255=) c.1032G>A (p.Glu344=) c.990G>A (p.Glu330=) c.888G>A (p.Glu296=) c.852G>A (p.Glu284=) c.693G>A (p.Glu231=) | gnomAD v4 |
1 | g.173909797T>A | CA343774300 | SERPINC1 | c.908A>T (p.Glu303Val) n.559A>T c.559+2067A>T (n.559+2067A>T) c.764A>T (p.Glu255Val) c.1031A>T (p.Glu344Val) c.989A>T (p.Glu330Val) c.887A>T (p.Glu296Val) c.851A>T (p.Glu284Val) c.692A>T (p.Glu231Val) | |
1 | g.173909797T>C | CA343774301 | SERPINC1 | c.908A>G (p.Glu303Gly) n.559A>G c.559+2067A>G (n.559+2067A>G) c.764A>G (p.Glu255Gly) c.1031A>G (p.Glu344Gly) c.989A>G (p.Glu330Gly) c.887A>G (p.Glu296Gly) c.851A>G (p.Glu284Gly) c.692A>G (p.Glu231Gly) | |
1 | g.173909797T>G | CA343774303 | SERPINC1 | c.908A>C (p.Glu303Ala) n.559A>C c.559+2067A>C (n.559+2067A>C) c.764A>C (p.Glu255Ala) c.1031A>C (p.Glu344Ala) c.989A>C (p.Glu330Ala) c.887A>C (p.Glu296Ala) c.851A>C (p.Glu284Ala) c.692A>C (p.Glu231Ala) | |
1 | g.173909798C>A | CA343774309 | SERPINC1 | c.907G>T (p.Glu303Ter) n.558G>T c.559+2066G>T (n.559+2066G>T) c.763G>T (p.Glu255Ter) c.1030G>T (p.Glu344Ter) c.988G>T (p.Glu330Ter) c.886G>T (p.Glu296Ter) c.850G>T (p.Glu284Ter) c.691G>T (p.Glu231Ter) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.173909798C= | CA1207936997 | SERPINC1 | c.907G= (p.Glu303=) n.558G= c.559+2066G= (n.559+2066G=) c.763G= (p.Glu255=) c.1030G= (p.Glu344=) c.988G= (p.Glu330=) c.886G= (p.Glu296=) c.850G= (p.Glu284=) c.691G= (p.Glu231=) | |
1 | g.173909798C>G | CA343774307 | SERPINC1 | c.907G>C (p.Glu303Gln) n.558G>C c.559+2066G>C (n.559+2066G>C) c.763G>C (p.Glu255Gln) c.1030G>C (p.Glu344Gln) c.988G>C (p.Glu330Gln) c.886G>C (p.Glu296Gln) c.850G>C (p.Glu284Gln) c.691G>C (p.Glu231Gln) | |
1 | g.173909798C>T | CA343774305 | SERPINC1 | c.907G>A (p.Glu303Lys) n.558G>A c.559+2066G>A (n.559+2066G>A) c.763G>A (p.Glu255Lys) c.1030G>A (p.Glu344Lys) c.988G>A (p.Glu330Lys) c.886G>A (p.Glu296Lys) c.850G>A (p.Glu284Lys) c.691G>A (p.Glu231Lys) | gnomAD v4 |
1 | g.173909798dup | CA2579753966 | SERPINC1 | c.907dup (p.Glu303GlyfsTer7) n.558dup c.559+2066dup (n.559+2066dup) c.763dup (p.Glu255GlyfsTer7) c.1030dup (p.Glu344GlyfsTer7) c.988dup (p.Glu330GlyfsTer7) c.886dup (p.Glu296GlyfsTer7) c.850dup (p.Glu284GlyfsTer7) c.691dup (p.Glu231GlyfsTer7) | |
1 | g.173909799A= | CA1207936998 | SERPINC1 | c.906T= (p.Leu302=) n.557T= c.559+2065T= (n.559+2065T=) c.762T= (p.Leu254=) c.1029T= (p.Leu343=) c.987T= (p.Leu329=) c.885T= (p.Leu295=) c.849T= (p.Leu283=) c.690T= (p.Leu230=) | |
1 | g.173909799A>C | CA421942722 | SERPINC1 | c.906T>G (p.Leu302=) n.557T>G c.559+2065T>G (n.559+2065T>G) c.762T>G (p.Leu254=) c.1029T>G (p.Leu343=) c.987T>G (p.Leu329=) c.885T>G (p.Leu295=) c.849T>G (p.Leu283=) c.690T>G (p.Leu230=) | |
1 | g.173909799A>G | CA421942723 | SERPINC1 | c.906T>C (p.Leu302=) n.557T>C c.559+2065T>C (n.559+2065T>C) c.762T>C (p.Leu254=) c.1029T>C (p.Leu343=) c.987T>C (p.Leu329=) c.885T>C (p.Leu295=) c.849T>C (p.Leu283=) c.690T>C (p.Leu230=) | |
1 | g.173909799A>T | CA421942724 | SERPINC1 | c.906T>A (p.Leu302=) n.557T>A c.559+2065T>A (n.559+2065T>A) c.762T>A (p.Leu254=) c.1029T>A (p.Leu343=) c.987T>A (p.Leu329=) c.885T>A (p.Leu295=) c.849T>A (p.Leu283=) c.690T>A (p.Leu230=) | dbSNP |
1 | g.173909800A>C | CA343774311 | SERPINC1 | c.905T>G (p.Leu302Arg) n.556T>G c.559+2064T>G (n.559+2064T>G) c.761T>G (p.Leu254Arg) c.1028T>G (p.Leu343Arg) c.986T>G (p.Leu329Arg) c.884T>G (p.Leu295Arg) c.848T>G (p.Leu283Arg) c.689T>G (p.Leu230Arg) | |
1 | g.173909800A>G | CA343774312 | SERPINC1 | c.905T>C (p.Leu302Pro) n.556T>C c.559+2064T>C (n.559+2064T>C) c.761T>C (p.Leu254Pro) c.1028T>C (p.Leu343Pro) c.986T>C (p.Leu329Pro) c.884T>C (p.Leu295Pro) c.848T>C (p.Leu283Pro) c.689T>C (p.Leu230Pro) | |
1 | g.173909800A>T | CA343774313 | SERPINC1 | c.905T>A (p.Leu302His) n.556T>A c.559+2064T>A (n.559+2064T>A) c.761T>A (p.Leu254His) c.1028T>A (p.Leu343His) c.986T>A (p.Leu329His) c.884T>A (p.Leu295His) c.848T>A (p.Leu283His) c.689T>A (p.Leu230His) | |
1 | g.173909801G>A | CA343774316 | SERPINC1 | c.904C>T (p.Leu302Phe) n.555C>T c.559+2063C>T (n.559+2063C>T) c.760C>T (p.Leu254Phe) c.1027C>T (p.Leu343Phe) c.985C>T (p.Leu329Phe) c.883C>T (p.Leu295Phe) c.847C>T (p.Leu283Phe) c.688C>T (p.Leu230Phe) | |
1 | g.173909801G>C | CA343774317 | SERPINC1 | c.904C>G (p.Leu302Val) n.555C>G c.559+2063C>G (n.559+2063C>G) c.760C>G (p.Leu254Val) c.1027C>G (p.Leu343Val) c.985C>G (p.Leu329Val) c.883C>G (p.Leu295Val) c.847C>G (p.Leu283Val) c.688C>G (p.Leu230Val) | |
1 | g.173909801G>T | CA343774319 | SERPINC1 | c.904C>A (p.Leu302Ile) n.555C>A c.559+2063C>A (n.559+2063C>A) c.760C>A (p.Leu254Ile) c.1027C>A (p.Leu343Ile) c.985C>A (p.Leu329Ile) c.883C>A (p.Leu295Ile) c.847C>A (p.Leu283Ile) c.688C>A (p.Leu230Ile) | |
1 | g.173909802C>A | CA421942725 | SERPINC1 | c.903G>T (p.Val301=) n.554G>T c.559+2062G>T (n.559+2062G>T) c.759G>T (p.Val253=) c.1026G>T (p.Val342=) c.984G>T (p.Val328=) c.882G>T (p.Val294=) c.846G>T (p.Val282=) c.687G>T (p.Val229=) | |
1 | g.173909802C>G | CA421942726 | SERPINC1 | c.903G>C (p.Val301=) n.554G>C c.559+2062G>C (n.559+2062G>C) c.759G>C (p.Val253=) c.1026G>C (p.Val342=) c.984G>C (p.Val328=) c.882G>C (p.Val294=) c.846G>C (p.Val282=) c.687G>C (p.Val229=) | |
1 | g.173909802C>T | CA421942727 | SERPINC1 | c.903G>A (p.Val301=) n.554G>A c.559+2062G>A (n.559+2062G>A) c.759G>A (p.Val253=) c.1026G>A (p.Val342=) c.984G>A (p.Val328=) c.882G>A (p.Val294=) c.846G>A (p.Val282=) c.687G>A (p.Val229=) | |
1 | g.173909803A>C | CA343774321 | SERPINC1 | c.902T>G (p.Val301Gly) n.553T>G c.559+2061T>G (n.559+2061T>G) c.758T>G (p.Val253Gly) c.1025T>G (p.Val342Gly) c.983T>G (p.Val328Gly) c.881T>G (p.Val294Gly) c.845T>G (p.Val282Gly) c.686T>G (p.Val229Gly) | |
1 | g.173909803A>G | CA343774323 | SERPINC1 | c.902T>C (p.Val301Ala) n.553T>C c.559+2061T>C (n.559+2061T>C) c.758T>C (p.Val253Ala) c.1025T>C (p.Val342Ala) c.983T>C (p.Val328Ala) c.881T>C (p.Val294Ala) c.845T>C (p.Val282Ala) c.686T>C (p.Val229Ala) | |
1 | g.173909803A>T | CA343774325 | SERPINC1 | c.902T>A (p.Val301Glu) n.553T>A c.559+2061T>A (n.559+2061T>A) c.758T>A (p.Val253Glu) c.1025T>A (p.Val342Glu) c.983T>A (p.Val328Glu) c.881T>A (p.Val294Glu) c.845T>A (p.Val282Glu) c.686T>A (p.Val229Glu) | |
1 | g.173909804C>A | CA343774327 | SERPINC1 | c.901G>T (p.Val301Leu) n.552G>T c.559+2060G>T (n.559+2060G>T) c.757G>T (p.Val253Leu) c.1024G>T (p.Val342Leu) c.982G>T (p.Val328Leu) c.880G>T (p.Val294Leu) c.844G>T (p.Val282Leu) c.685G>T (p.Val229Leu) | |
1 | g.173909804C>G | CA343774328 | SERPINC1 | c.901G>C (p.Val301Leu) n.552G>C c.559+2060G>C (n.559+2060G>C) c.757G>C (p.Val253Leu) c.1024G>C (p.Val342Leu) c.982G>C (p.Val328Leu) c.880G>C (p.Val294Leu) c.844G>C (p.Val282Leu) c.685G>C (p.Val229Leu) | |
1 | g.173909804C>T | CA343774330 | SERPINC1 | c.901G>A (p.Val301Met) n.552G>A c.559+2060G>A (n.559+2060G>A) c.757G>A (p.Val253Met) c.1024G>A (p.Val342Met) c.982G>A (p.Val328Met) c.880G>A (p.Val294Met) c.844G>A (p.Val282Met) c.685G>A (p.Val229Met) | |
1 | g.173909805C>A | CA343774332 | SERPINC1 | c.900G>T (p.Gln300His) n.551G>T c.559+2059G>T (n.559+2059G>T) c.756G>T (p.Gln252His) c.1023G>T (p.Gln341His) c.981G>T (p.Gln327His) c.879G>T (p.Gln293His) c.843G>T (p.Gln281His) c.684G>T (p.Gln228His) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.173909805C= | CA1207936999 | SERPINC1 | c.900G= (p.Gln300=) n.551G= c.559+2059G= (n.559+2059G=) c.756G= (p.Gln252=) c.1023G= (p.Gln341=) c.981G= (p.Gln327=) c.879G= (p.Gln293=) c.843G= (p.Gln281=) c.684G= (p.Gln228=) | |
1 | g.173909805C>G | CA343774334 | SERPINC1 | c.900G>C (p.Gln300His) n.551G>C c.559+2059G>C (n.559+2059G>C) c.756G>C (p.Gln252His) c.1023G>C (p.Gln341His) c.981G>C (p.Gln327His) c.879G>C (p.Gln293His) c.843G>C (p.Gln281His) c.684G>C (p.Gln228His) | |
1 | g.173909805C>T | CA421942728 | SERPINC1 | c.900G>A (p.Gln300=) n.551G>A c.559+2059G>A (n.559+2059G>A) c.756G>A (p.Gln252=) c.1023G>A (p.Gln341=) c.981G>A (p.Gln327=) c.879G>A (p.Gln293=) c.843G>A (p.Gln281=) c.684G>A (p.Gln228=) | |
1 | g.173909806T>A | CA343774336 | SERPINC1 | c.899A>T (p.Gln300Leu) n.550A>T c.559+2058A>T (n.559+2058A>T) c.755A>T (p.Gln252Leu) c.1022A>T (p.Gln341Leu) c.980A>T (p.Gln327Leu) c.878A>T (p.Gln293Leu) c.842A>T (p.Gln281Leu) c.683A>T (p.Gln228Leu) | |
1 | g.173909806T>C | CA343774338 | SERPINC1 | c.899A>G (p.Gln300Arg) n.550A>G c.559+2058A>G (n.559+2058A>G) c.755A>G (p.Gln252Arg) c.1022A>G (p.Gln341Arg) c.980A>G (p.Gln327Arg) c.878A>G (p.Gln293Arg) c.842A>G (p.Gln281Arg) c.683A>G (p.Gln228Arg) | |
1 | g.173909806T>G | CA343774339 | SERPINC1 | c.899A>C (p.Gln300Pro) n.550A>C c.559+2058A>C (n.559+2058A>C) c.755A>C (p.Gln252Pro) c.1022A>C (p.Gln341Pro) c.980A>C (p.Gln327Pro) c.878A>C (p.Gln293Pro) c.842A>C (p.Gln281Pro) c.683A>C (p.Gln228Pro) | |
1 | g.173909807G>A | CA343774342 | SERPINC1 | c.898C>T (p.Gln300Ter) n.549C>T c.559+2057C>T (n.559+2057C>T) c.754C>T (p.Gln252Ter) c.1021C>T (p.Gln341Ter) c.979C>T (p.Gln327Ter) c.877C>T (p.Gln293Ter) c.841C>T (p.Gln281Ter) c.682C>T (p.Gln228Ter) | |
1 | g.173909807G>C | CA343774344 | SERPINC1 | c.898C>G (p.Gln300Glu) n.549C>G c.559+2057C>G (n.559+2057C>G) c.754C>G (p.Gln252Glu) c.1021C>G (p.Gln341Glu) c.979C>G (p.Gln327Glu) c.877C>G (p.Gln293Glu) c.841C>G (p.Gln281Glu) c.682C>G (p.Gln228Glu) | |
1 | g.173909807G>T | CA343774346 | SERPINC1 | c.898C>A (p.Gln300Lys) n.549C>A c.559+2057C>A (n.559+2057C>A) c.754C>A (p.Gln252Lys) c.1021C>A (p.Gln341Lys) c.979C>A (p.Gln327Lys) c.877C>A (p.Gln293Lys) c.841C>A (p.Gln281Lys) c.682C>A (p.Gln228Lys) | |
1 | g.173909809del | CA2579753961 | SERPINC1 | c.898del (p.Gln300ArgfsTer28) n.549del c.559+2057del (n.559+2057del) c.754del (p.Gln252ArgfsTer28) c.1021del (p.Gln341ArgfsTer28) c.979del (p.Gln327ArgfsTer28) c.877del (p.Gln293ArgfsTer28) c.841del (p.Gln281ArgfsTer28) c.682del (p.Gln228ArgfsTer28) | |
1 | g.173909808G>A | CA421942731 | SERPINC1 | c.897C>T (p.Thr299=) n.548C>T c.559+2056C>T (n.559+2056C>T) c.753C>T (p.Thr251=) c.1020C>T (p.Thr340=) c.978C>T (p.Thr326=) c.876C>T (p.Thr292=) c.840C>T (p.Thr280=) c.681C>T (p.Thr227=) | |
1 | g.173909808G>C | CA421942730 | SERPINC1 | c.897C>G (p.Thr299=) n.548C>G c.559+2056C>G (n.559+2056C>G) c.753C>G (p.Thr251=) c.1020C>G (p.Thr340=) c.978C>G (p.Thr326=) c.876C>G (p.Thr292=) c.840C>G (p.Thr280=) c.681C>G (p.Thr227=) | |
1 | g.173909808G>T | CA421942729 | SERPINC1 | c.897C>A (p.Thr299=) n.548C>A c.559+2056C>A (n.559+2056C>A) c.753C>A (p.Thr251=) c.1020C>A (p.Thr340=) c.978C>A (p.Thr326=) c.876C>A (p.Thr292=) c.840C>A (p.Thr280=) c.681C>A (p.Thr227=) | |
1 | g.173909809G>A | CA343774348 | SERPINC1 | c.896C>T (p.Thr299Ile) n.547C>T c.559+2055C>T (n.559+2055C>T) c.752C>T (p.Thr251Ile) c.1019C>T (p.Thr340Ile) c.977C>T (p.Thr326Ile) c.875C>T (p.Thr292Ile) c.839C>T (p.Thr280Ile) c.680C>T (p.Thr227Ile) | |
1 | g.173909809G>C | CA343774350 | SERPINC1 | c.896C>G (p.Thr299Ser) n.547C>G c.559+2055C>G (n.559+2055C>G) c.752C>G (p.Thr251Ser) c.1019C>G (p.Thr340Ser) c.977C>G (p.Thr326Ser) c.875C>G (p.Thr292Ser) c.839C>G (p.Thr280Ser) c.680C>G (p.Thr227Ser) | |
1 | g.173909809G>T | CA343774351 | SERPINC1 | c.896C>A (p.Thr299Asn) n.547C>A c.559+2055C>A (n.559+2055C>A) c.752C>A (p.Thr251Asn) c.1019C>A (p.Thr340Asn) c.977C>A (p.Thr326Asn) c.875C>A (p.Thr292Asn) c.839C>A (p.Thr280Asn) c.680C>A (p.Thr227Asn) | |
1 | g.173909810T>A | CA343774354 | SERPINC1 | c.895A>T (p.Thr299Ser) n.546A>T c.559+2054A>T (n.559+2054A>T) c.751A>T (p.Thr251Ser) c.1018A>T (p.Thr340Ser) c.976A>T (p.Thr326Ser) c.874A>T (p.Thr292Ser) c.838A>T (p.Thr280Ser) c.679A>T (p.Thr227Ser) | dbSNP |
1 | g.173909810T>C | CA343774356 | SERPINC1 | c.895A>G (p.Thr299Ala) n.546A>G c.559+2054A>G (n.559+2054A>G) c.751A>G (p.Thr251Ala) c.1018A>G (p.Thr340Ala) c.976A>G (p.Thr326Ala) c.874A>G (p.Thr292Ala) c.838A>G (p.Thr280Ala) c.679A>G (p.Thr227Ala) | |
1 | g.173909810T>G | CA343774357 | SERPINC1 | c.895A>C (p.Thr299Pro) n.546A>C c.559+2054A>C (n.559+2054A>C) c.751A>C (p.Thr251Pro) c.1018A>C (p.Thr340Pro) c.976A>C (p.Thr326Pro) c.874A>C (p.Thr292Pro) c.838A>C (p.Thr280Pro) c.679A>C (p.Thr227Pro) | |
1 | g.173909810T= | CA1207937000 | SERPINC1 | c.895A= (p.Thr299=) n.546A= c.559+2054A= (n.559+2054A=) c.751A= (p.Thr251=) c.1018A= (p.Thr340=) c.976A= (p.Thr326=) c.874A= (p.Thr292=) c.838A= (p.Thr280=) c.679A= (p.Thr227=) | |
1 | g.173909811G>A | CA421942732 | SERPINC1 | c.894C>T (p.Gly298=) n.545C>T c.559+2053C>T (n.559+2053C>T) c.750C>T (p.Gly250=) c.1017C>T (p.Gly339=) c.975C>T (p.Gly325=) c.873C>T (p.Gly291=) c.837C>T (p.Gly279=) c.678C>T (p.Gly226=) | ClinVar dbSNP |
1 | g.173909811G>C | CA421942733 | SERPINC1 | c.894C>G (p.Gly298=) n.545C>G c.559+2053C>G (n.559+2053C>G) c.750C>G (p.Gly250=) c.1017C>G (p.Gly339=) c.975C>G (p.Gly325=) c.873C>G (p.Gly291=) c.837C>G (p.Gly279=) c.678C>G (p.Gly226=) | |
1 | g.173909811G>T | CA421942734 | SERPINC1 | c.894C>A (p.Gly298=) n.545C>A c.559+2053C>A (n.559+2053C>A) c.750C>A (p.Gly250=) c.1017C>A (p.Gly339=) c.975C>A (p.Gly325=) c.873C>A (p.Gly291=) c.837C>A (p.Gly279=) c.678C>A (p.Gly226=) | |
1 | g.173909812C>A | CA343774363 | SERPINC1 | c.893G>T (p.Gly298Val) n.544G>T c.559+2052G>T (n.559+2052G>T) c.749G>T (p.Gly250Val) c.1016G>T (p.Gly339Val) c.974G>T (p.Gly325Val) c.872G>T (p.Gly291Val) c.836G>T (p.Gly279Val) c.677G>T (p.Gly226Val) | |
1 | g.173909812C>G | CA343774359 | SERPINC1 | c.893G>C (p.Gly298Ala) n.544G>C c.559+2052G>C (n.559+2052G>C) c.749G>C (p.Gly250Ala) c.1016G>C (p.Gly339Ala) c.974G>C (p.Gly325Ala) c.872G>C (p.Gly291Ala) c.836G>C (p.Gly279Ala) c.677G>C (p.Gly226Ala) | |
1 | g.173909812C>T | CA343774361 | SERPINC1 | c.893G>A (p.Gly298Asp) n.544G>A c.559+2052G>A (n.559+2052G>A) c.749G>A (p.Gly250Asp) c.1016G>A (p.Gly339Asp) c.974G>A (p.Gly325Asp) c.872G>A (p.Gly291Asp) c.836G>A (p.Gly279Asp) c.677G>A (p.Gly226Asp) | COSMIC |
1 | g.173909813C>A | CA343774365 | SERPINC1 | c.892G>T (p.Gly298Cys) n.543G>T c.559+2051G>T (n.559+2051G>T) c.748G>T (p.Gly250Cys) c.1015G>T (p.Gly339Cys) c.973G>T (p.Gly325Cys) c.871G>T (p.Gly291Cys) c.835G>T (p.Gly279Cys) c.676G>T (p.Gly226Cys) | |
1 | g.173909813C>G | CA343774367 | SERPINC1 | c.892G>C (p.Gly298Arg) n.543G>C c.559+2051G>C (n.559+2051G>C) c.748G>C (p.Gly250Arg) c.1015G>C (p.Gly339Arg) c.973G>C (p.Gly325Arg) c.871G>C (p.Gly291Arg) c.835G>C (p.Gly279Arg) c.676G>C (p.Gly226Arg) | gnomAD v4 |
1 | g.173909813C>T | CA343774368 | SERPINC1 | c.892G>A (p.Gly298Ser) n.543G>A c.559+2051G>A (n.559+2051G>A) c.748G>A (p.Gly250Ser) c.1015G>A (p.Gly339Ser) c.973G>A (p.Gly325Ser) c.871G>A (p.Gly291Ser) c.835G>A (p.Gly279Ser) c.676G>A (p.Gly226Ser) | |
1 | g.173909814T>A | CA343774370 | SERPINC1 | c.891A>T (p.Glu297Asp) n.542A>T c.559+2050A>T (n.559+2050A>T) c.747A>T (p.Glu249Asp) c.1014A>T (p.Glu338Asp) c.972A>T (p.Glu324Asp) c.870A>T (p.Glu290Asp) c.834A>T (p.Glu278Asp) c.675A>T (p.Glu225Asp) | |
1 | g.173909814T>C | CA421942735 | SERPINC1 | c.891A>G (p.Glu297=) n.542A>G c.559+2050A>G (n.559+2050A>G) c.747A>G (p.Glu249=) c.1014A>G (p.Glu338=) c.972A>G (p.Glu324=) c.870A>G (p.Glu290=) c.834A>G (p.Glu278=) c.675A>G (p.Glu225=) | dbSNP |
1 | g.173909814T>G | CA343774372 | SERPINC1 | c.891A>C (p.Glu297Asp) n.542A>C c.559+2050A>C (n.559+2050A>C) c.747A>C (p.Glu249Asp) c.1014A>C (p.Glu338Asp) c.972A>C (p.Glu324Asp) c.870A>C (p.Glu290Asp) c.834A>C (p.Glu278Asp) c.675A>C (p.Glu225Asp) | |
1 | g.173909814T= | CA1207937001 | SERPINC1 | c.891A= (p.Glu297=) n.542A= c.559+2050A= (n.559+2050A=) c.747A= (p.Glu249=) c.1014A= (p.Glu338=) c.972A= (p.Glu324=) c.870A= (p.Glu290=) c.834A= (p.Glu278=) c.675A= (p.Glu225=) | |
1 | g.173909815T>A | CA343774374 | SERPINC1 | c.890A>T (p.Glu297Val) n.541A>T c.559+2049A>T (n.559+2049A>T) c.746A>T (p.Glu249Val) c.1013A>T (p.Glu338Val) c.971A>T (p.Glu324Val) c.869A>T (p.Glu290Val) c.833A>T (p.Glu278Val) c.674A>T (p.Glu225Val) | |
1 | g.173909815T>C | CA343774375 | SERPINC1 | c.890A>G (p.Glu297Gly) n.541A>G c.559+2049A>G (n.559+2049A>G) c.746A>G (p.Glu249Gly) c.1013A>G (p.Glu338Gly) c.971A>G (p.Glu324Gly) c.869A>G (p.Glu290Gly) c.833A>G (p.Glu278Gly) c.674A>G (p.Glu225Gly) | gnomAD v4 |
1 | g.173909815T>G | CA343774377 | SERPINC1 | c.890A>C (p.Glu297Ala) n.541A>C c.559+2049A>C (n.559+2049A>C) c.746A>C (p.Glu249Ala) c.1013A>C (p.Glu338Ala) c.971A>C (p.Glu324Ala) c.869A>C (p.Glu290Ala) c.833A>C (p.Glu278Ala) c.674A>C (p.Glu225Ala) | dbSNP gnomAD v4 |
1 | g.173909815T= | CA1207937002 | SERPINC1 | c.890A= (p.Glu297=) n.541A= c.559+2049A= (n.559+2049A=) c.746A= (p.Glu249=) c.1013A= (p.Glu338=) c.971A= (p.Glu324=) c.869A= (p.Glu290=) c.833A= (p.Glu278=) c.674A= (p.Glu225=) | |
1 | g.173909816C>A | CA343774380 | SERPINC1 | c.889G>T (p.Glu297Ter) n.540G>T c.559+2048G>T (n.559+2048G>T) c.745G>T (p.Glu249Ter) c.1012G>T (p.Glu338Ter) c.970G>T (p.Glu324Ter) c.868G>T (p.Glu290Ter) c.832G>T (p.Glu278Ter) c.673G>T (p.Glu225Ter) | COSMIC |
1 | g.173909816C= | CA1207937003 | SERPINC1 | c.889G= (p.Glu297=) n.540G= c.559+2048G= (n.559+2048G=) c.745G= (p.Glu249=) c.1012G= (p.Glu338=) c.970G= (p.Glu324=) c.868G= (p.Glu290=) c.832G= (p.Glu278=) c.673G= (p.Glu225=) | |
1 | g.173909816C>G | CA343774381 | SERPINC1 | c.889G>C (p.Glu297Gln) n.540G>C c.559+2048G>C (n.559+2048G>C) c.745G>C (p.Glu249Gln) c.1012G>C (p.Glu338Gln) c.970G>C (p.Glu324Gln) c.868G>C (p.Glu290Gln) c.832G>C (p.Glu278Gln) c.673G>C (p.Glu225Gln) | |
1 | g.173909816C>T | CA343774383 | SERPINC1 | c.889G>A (p.Glu297Lys) n.540G>A c.559+2048G>A (n.559+2048G>A) c.745G>A (p.Glu249Lys) c.1012G>A (p.Glu338Lys) c.970G>A (p.Glu324Lys) c.868G>A (p.Glu290Lys) c.832G>A (p.Glu278Lys) c.673G>A (p.Glu225Lys) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.173909817A= | CA1207937004 | SERPINC1 | c.888T= (p.Ala296=) n.539T= c.559+2047T= (n.559+2047T=) c.744T= (p.Ala248=) c.1011T= (p.Ala337=) c.969T= (p.Ala323=) c.867T= (p.Ala289=) c.831T= (p.Ala277=) c.672T= (p.Ala224=) | |
1 | g.173909817A>C | CA421942736 | SERPINC1 | c.888T>G (p.Ala296=) n.539T>G c.559+2047T>G (n.559+2047T>G) c.744T>G (p.Ala248=) c.1011T>G (p.Ala337=) c.969T>G (p.Ala323=) c.867T>G (p.Ala289=) c.831T>G (p.Ala277=) c.672T>G (p.Ala224=) | |
1 | g.173909817A>G | CA32780362 | SERPINC1 | c.888T>C (p.Ala296=) n.539T>C c.559+2047T>C (n.559+2047T>C) c.744T>C (p.Ala248=) c.1011T>C (p.Ala337=) c.969T>C (p.Ala323=) c.867T>C (p.Ala289=) c.831T>C (p.Ala277=) c.672T>C (p.Ala224=) | dbSNP gnomAD v4 |
1 | g.173909817A>T | CA421942737 | SERPINC1 | c.888T>A (p.Ala296=) n.539T>A c.559+2047T>A (n.559+2047T>A) c.744T>A (p.Ala248=) c.1011T>A (p.Ala337=) c.969T>A (p.Ala323=) c.867T>A (p.Ala289=) c.831T>A (p.Ala277=) c.672T>A (p.Ala224=) | dbSNP |
1 | g.173909818G>A | CA343774386 | SERPINC1 | c.887C>T (p.Ala296Val) n.538C>T c.559+2046C>T (n.559+2046C>T) c.743C>T (p.Ala248Val) c.1010C>T (p.Ala337Val) c.968C>T (p.Ala323Val) c.866C>T (p.Ala289Val) c.830C>T (p.Ala277Val) c.671C>T (p.Ala224Val) | dbSNP |
1 | g.173909818G>C | CA343774387 | SERPINC1 | c.887C>G (p.Ala296Gly) n.538C>G c.559+2046C>G (n.559+2046C>G) c.743C>G (p.Ala248Gly) c.1010C>G (p.Ala337Gly) c.968C>G (p.Ala323Gly) c.866C>G (p.Ala289Gly) c.830C>G (p.Ala277Gly) c.671C>G (p.Ala224Gly) | |
1 | g.173909818G= | CA1207937005 | SERPINC1 | c.887C= (p.Ala296=) n.538C= c.559+2046C= (n.559+2046C=) c.743C= (p.Ala248=) c.1010C= (p.Ala337=) c.968C= (p.Ala323=) c.866C= (p.Ala289=) c.830C= (p.Ala277=) c.671C= (p.Ala224=) | |
1 | g.173909818G>T | CA343774384 | SERPINC1 | c.887C>A (p.Ala296Asp) n.538C>A c.559+2046C>A (n.559+2046C>A) c.743C>A (p.Ala248Asp) c.1010C>A (p.Ala337Asp) c.968C>A (p.Ala323Asp) c.866C>A (p.Ala289Asp) c.830C>A (p.Ala277Asp) c.671C>A (p.Ala224Asp) | |
1 | g.173909819C>A | CA343774392 | SERPINC1 | c.886G>T (p.Ala296Ser) n.537G>T c.559+2045G>T (n.559+2045G>T) c.742G>T (p.Ala248Ser) c.1009G>T (p.Ala337Ser) c.967G>T (p.Ala323Ser) c.865G>T (p.Ala289Ser) c.829G>T (p.Ala277Ser) c.670G>T (p.Ala224Ser) | |
1 | g.173909819C= | CA1143888303 | SERPINC1 | c.886G= (p.Ala296=) n.537G= c.559+2045G= (n.559+2045G=) c.742G= (p.Ala248=) c.1009G= (p.Ala337=) c.967G= (p.Ala323=) c.865G= (p.Ala289=) c.829G= (p.Ala277=) c.670G= (p.Ala224=) | |
1 | g.173909819C>G | CA211882 | SERPINC1 | c.886G>C (p.Ala296Pro) n.537G>C c.559+2045G>C (n.559+2045G>C) c.742G>C (p.Ala248Pro) c.1009G>C (p.Ala337Pro) c.967G>C (p.Ala323Pro) c.865G>C (p.Ala289Pro) c.829G>C (p.Ala277Pro) c.670G>C (p.Ala224Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909819C>T | CA343774390 | SERPINC1 | c.886G>A (p.Ala296Thr) n.537G>A c.559+2045G>A (n.559+2045G>A) c.742G>A (p.Ala248Thr) c.1009G>A (p.Ala337Thr) c.967G>A (p.Ala323Thr) c.865G>A (p.Ala289Thr) c.829G>A (p.Ala277Thr) c.670G>A (p.Ala224Thr) | |
1 | g.173909820C>A | CA1251314 | SERPINC1 | c.885G>T (p.Val295=) n.536G>T c.559+2044G>T (n.559+2044G>T) c.741G>T (p.Val247=) c.1008G>T (p.Val336=) c.966G>T (p.Val322=) c.864G>T (p.Val288=) c.828G>T (p.Val276=) c.669G>T (p.Val223=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.173909820C= | CA1207937006 | SERPINC1 | c.885G= (p.Val295=) n.536G= c.559+2044G= (n.559+2044G=) c.741G= (p.Val247=) c.1008G= (p.Val336=) c.966G= (p.Val322=) c.864G= (p.Val288=) c.828G= (p.Val276=) c.669G= (p.Val223=) | |
1 | g.173909820C>G | CA421942738 | SERPINC1 | c.885G>C (p.Val295=) n.536G>C c.559+2044G>C (n.559+2044G>C) c.741G>C (p.Val247=) c.1008G>C (p.Val336=) c.966G>C (p.Val322=) c.864G>C (p.Val288=) c.828G>C (p.Val276=) c.669G>C (p.Val223=) | |
1 | g.173909820C>T | CA421942739 | SERPINC1 | c.885G>A (p.Val295=) n.536G>A c.559+2044G>A (n.559+2044G>A) c.741G>A (p.Val247=) c.1008G>A (p.Val336=) c.966G>A (p.Val322=) c.864G>A (p.Val288=) c.828G>A (p.Val276=) c.669G>A (p.Val223=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.173909821A= | CA1207937007 | SERPINC1 | c.884T= (p.Val295=) n.535T= c.559+2043T= (n.559+2043T=) c.740T= (p.Val247=) c.1007T= (p.Val336=) c.965T= (p.Val322=) c.863T= (p.Val288=) c.827T= (p.Val276=) c.668T= (p.Val223=) | |
1 | g.173909821A>C | CA343774395 | SERPINC1 | c.884T>G (p.Val295Gly) n.535T>G c.559+2043T>G (n.559+2043T>G) c.740T>G (p.Val247Gly) c.1007T>G (p.Val336Gly) c.965T>G (p.Val322Gly) c.863T>G (p.Val288Gly) c.827T>G (p.Val276Gly) c.668T>G (p.Val223Gly) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.173909821A>G | CA343774397 | SERPINC1 | c.884T>C (p.Val295Ala) n.535T>C c.559+2043T>C (n.559+2043T>C) c.740T>C (p.Val247Ala) c.1007T>C (p.Val336Ala) c.965T>C (p.Val322Ala) c.863T>C (p.Val288Ala) c.827T>C (p.Val276Ala) c.668T>C (p.Val223Ala) | |
1 | g.173909821A>T | CA343774398 | SERPINC1 | c.884T>A (p.Val295Glu) n.535T>A c.559+2043T>A (n.559+2043T>A) c.740T>A (p.Val247Glu) c.1007T>A (p.Val336Glu) c.965T>A (p.Val322Glu) c.863T>A (p.Val288Glu) c.827T>A (p.Val276Glu) c.668T>A (p.Val223Glu) | |
1 | g.173909822C>A | CA343774399 | SERPINC1 | c.883G>T (p.Val295Leu) n.534G>T c.559+2042G>T (n.559+2042G>T) c.739G>T (p.Val247Leu) c.1006G>T (p.Val336Leu) c.964G>T (p.Val322Leu) c.862G>T (p.Val288Leu) c.826G>T (p.Val276Leu) c.667G>T (p.Val223Leu) | |
1 | g.173909822C= | CA1143479504 | SERPINC1 | c.883G= (p.Val295=) n.534G= c.559+2042G= (n.559+2042G=) c.739G= (p.Val247=) c.1006G= (p.Val336=) c.964G= (p.Val322=) c.862G= (p.Val288=) c.826G= (p.Val276=) c.667G= (p.Val223=) | |
1 | g.173909822C>G | CA343774401 | SERPINC1 | c.883G>C (p.Val295Leu) n.534G>C c.559+2042G>C (n.559+2042G>C) c.739G>C (p.Val247Leu) c.1006G>C (p.Val336Leu) c.964G>C (p.Val322Leu) c.862G>C (p.Val288Leu) c.826G>C (p.Val276Leu) c.667G>C (p.Val223Leu) | |
1 | g.173909822C>T | CA1251315 | SERPINC1 | c.883G>A (p.Val295Met) n.534G>A c.559+2042G>A (n.559+2042G>A) c.739G>A (p.Val247Met) c.1006G>A (p.Val336Met) c.964G>A (p.Val322Met) c.862G>A (p.Val288Met) c.826G>A (p.Val276Met) c.667G>A (p.Val223Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.173909823G>A | CA1251316 | SERPINC1 | c.882C>T (p.Arg294=) n.533C>T c.559+2041C>T (n.559+2041C>T) c.738C>T (p.Arg246=) c.1005C>T (p.Arg335=) c.963C>T (p.Arg321=) c.861C>T (p.Arg287=) c.825C>T (p.Arg275=) c.666C>T (p.Arg222=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909823G>C | CA421942740 | SERPINC1 | c.882C>G (p.Arg294=) n.533C>G c.559+2041C>G (n.559+2041C>G) c.738C>G (p.Arg246=) c.1005C>G (p.Arg335=) c.963C>G (p.Arg321=) c.861C>G (p.Arg287=) c.825C>G (p.Arg275=) c.666C>G (p.Arg222=) | ClinVar dbSNP |
1 | g.173909823G= | CA1142705163 | SERPINC1 | c.882C= (p.Arg294=) n.533C= c.559+2041C= (n.559+2041C=) c.738C= (p.Arg246=) c.1005C= (p.Arg335=) c.963C= (p.Arg321=) c.861C= (p.Arg287=) c.825C= (p.Arg275=) c.666C= (p.Arg222=) | |
1 | g.173909823G>T | CA421942741 | SERPINC1 | c.882C>A (p.Arg294=) n.533C>A c.559+2041C>A (n.559+2041C>A) c.738C>A (p.Arg246=) c.1005C>A (p.Arg335=) c.963C>A (p.Arg321=) c.861C>A (p.Arg287=) c.825C>A (p.Arg275=) c.666C>A (p.Arg222=) | gnomAD v4 |
1 | g.173909824C>A | CA233134 | SERPINC1 | c.881G>T (p.Arg294Leu) n.532G>T c.559+2040G>T (n.559+2040G>T) c.737G>T (p.Arg246Leu) c.1004G>T (p.Arg335Leu) c.962G>T (p.Arg321Leu) c.860G>T (p.Arg287Leu) c.824G>T (p.Arg275Leu) c.665G>T (p.Arg222Leu) | ClinVar dbSNP |
1 | g.173909824C= | CA1148224791 | SERPINC1 | c.881G= (p.Arg294=) n.532G= c.559+2040G= (n.559+2040G=) c.737G= (p.Arg246=) c.1004G= (p.Arg335=) c.962G= (p.Arg321=) c.860G= (p.Arg287=) c.824G= (p.Arg275=) c.665G= (p.Arg222=) | |
1 | g.173909824C>G | CA343774406 | SERPINC1 | c.881G>C (p.Arg294Pro) n.532G>C c.559+2040G>C (n.559+2040G>C) c.737G>C (p.Arg246Pro) c.1004G>C (p.Arg335Pro) c.962G>C (p.Arg321Pro) c.860G>C (p.Arg287Pro) c.824G>C (p.Arg275Pro) c.665G>C (p.Arg222Pro) | |
1 | g.173909824C>T | CA233131 | SERPINC1 | c.881G>A (p.Arg294His) n.532G>A c.559+2040G>A (n.559+2040G>A) c.737G>A (p.Arg246His) c.1004G>A (p.Arg335His) c.962G>A (p.Arg321His) c.860G>A (p.Arg287His) c.824G>A (p.Arg275His) c.665G>A (p.Arg222His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909825G>A | CA1251317 | SERPINC1 | c.880C>T (p.Arg294Cys) n.531C>T c.559+2039C>T (n.559+2039C>T) c.736C>T (p.Arg246Cys) c.1003C>T (p.Arg335Cys) c.961C>T (p.Arg321Cys) c.859C>T (p.Arg287Cys) c.823C>T (p.Arg275Cys) c.664C>T (p.Arg222Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.173909825G>C | CA343774409 | SERPINC1 | c.880C>G (p.Arg294Gly) n.531C>G c.559+2039C>G (n.559+2039C>G) c.736C>G (p.Arg246Gly) c.1003C>G (p.Arg335Gly) c.961C>G (p.Arg321Gly) c.859C>G (p.Arg287Gly) c.823C>G (p.Arg275Gly) c.664C>G (p.Arg222Gly) | |
1 | g.173909825G= | CA1148439462 | SERPINC1 | c.880C= (p.Arg294=) n.531C= c.559+2039C= (n.559+2039C=) c.736C= (p.Arg246=) c.1003C= (p.Arg335=) c.961C= (p.Arg321=) c.859C= (p.Arg287=) c.823C= (p.Arg275=) c.664C= (p.Arg222=) | |
1 | g.173909825G>T | CA343774410 | SERPINC1 | c.880C>A (p.Arg294Ser) n.531C>A c.559+2039C>A (n.559+2039C>A) c.736C>A (p.Arg246Ser) c.1003C>A (p.Arg335Ser) c.961C>A (p.Arg321Ser) c.859C>A (p.Arg287Ser) c.823C>A (p.Arg275Ser) c.664C>A (p.Arg222Ser) | |
1 | g.173909826C>A | CA421942742 | SERPINC1 | c.879G>T (p.Arg293=) n.530G>T c.559+2038G>T (n.559+2038G>T) c.735G>T (p.Arg245=) c.1002G>T (p.Arg334=) c.960G>T (p.Arg320=) c.858G>T (p.Arg286=) c.822G>T (p.Arg274=) c.663G>T (p.Arg221=) | |
1 | g.173909826C>G | CA421942743 | SERPINC1 | c.879G>C (p.Arg293=) n.530G>C c.559+2038G>C (n.559+2038G>C) c.735G>C (p.Arg245=) c.1002G>C (p.Arg334=) c.960G>C (p.Arg320=) c.858G>C (p.Arg286=) c.822G>C (p.Arg274=) c.663G>C (p.Arg221=) | |
1 | g.173909826C>T | CA421942744 | SERPINC1 | c.879G>A (p.Arg293=) n.530G>A c.559+2038G>A (n.559+2038G>A) c.735G>A (p.Arg245=) c.1002G>A (p.Arg334=) c.960G>A (p.Arg320=) c.858G>A (p.Arg286=) c.822G>A (p.Arg274=) c.663G>A (p.Arg221=) | |
1 | g.173909827C>A | CA343774413 | SERPINC1 | c.878G>T (p.Arg293Leu) n.529G>T c.559+2037G>T (n.559+2037G>T) c.734G>T (p.Arg245Leu) c.1001G>T (p.Arg334Leu) c.959G>T (p.Arg320Leu) c.857G>T (p.Arg286Leu) c.821G>T (p.Arg274Leu) c.662G>T (p.Arg221Leu) | |
1 | g.173909827C= | CA1147668561 | SERPINC1 | c.878G= (p.Arg293=) n.529G= c.559+2037G= (n.559+2037G=) c.734G= (p.Arg245=) c.1001G= (p.Arg334=) c.959G= (p.Arg320=) c.857G= (p.Arg286=) c.821G= (p.Arg274=) c.662G= (p.Arg221=) | |
1 | g.173909827C>G | CA343774415 | SERPINC1 | c.878G>C (p.Arg293Pro) n.529G>C c.559+2037G>C (n.559+2037G>C) c.734G>C (p.Arg245Pro) c.1001G>C (p.Arg334Pro) c.959G>C (p.Arg320Pro) c.857G>C (p.Arg286Pro) c.821G>C (p.Arg274Pro) c.662G>C (p.Arg221Pro) | |
1 | g.173909827C>T | CA1251318 | SERPINC1 | c.878G>A (p.Arg293Gln) n.529G>A c.559+2037G>A (n.559+2037G>A) c.734G>A (p.Arg245Gln) c.1001G>A (p.Arg334Gln) c.959G>A (p.Arg320Gln) c.857G>A (p.Arg286Gln) c.821G>A (p.Arg274Gln) c.662G>A (p.Arg221Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909828G>A | CA1251319 | SERPINC1 | c.877C>T (p.Arg293Trp) n.528C>T c.559+2036C>T (n.559+2036C>T) c.733C>T (p.Arg245Trp) c.1000C>T (p.Arg334Trp) c.958C>T (p.Arg320Trp) c.856C>T (p.Arg286Trp) c.820C>T (p.Arg274Trp) c.661C>T (p.Arg221Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.173909828G>C | CA343774418 | SERPINC1 | c.877C>G (p.Arg293Gly) n.528C>G c.559+2036C>G (n.559+2036C>G) c.733C>G (p.Arg245Gly) c.1000C>G (p.Arg334Gly) c.958C>G (p.Arg320Gly) c.856C>G (p.Arg286Gly) c.820C>G (p.Arg274Gly) c.661C>G (p.Arg221Gly) | dbSNP |
1 | g.173909828G= | CA1207937008 | SERPINC1 | c.877C= (p.Arg293=) n.528C= c.559+2036C= (n.559+2036C=) c.733C= (p.Arg245=) c.1000C= (p.Arg334=) c.958C= (p.Arg320=) c.856C= (p.Arg286=) c.820C= (p.Arg274=) c.661C= (p.Arg221=) | |
1 | g.173909828G>T | CA421942745 | SERPINC1 | c.877C>A (p.Arg293=) n.528C>A c.559+2036C>A (n.559+2036C>A) c.733C>A (p.Arg245=) c.1000C>A (p.Arg334=) c.958C>A (p.Arg320=) c.856C>A (p.Arg286=) c.820C>A (p.Arg274=) c.661C>A (p.Arg221=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.173909829A= | CA1207937009 | SERPINC1 | c.876T= (p.Tyr292=) n.527T= c.559+2035T= (n.559+2035T=) c.732T= (p.Tyr244=) c.999T= (p.Tyr333=) c.957T= (p.Tyr319=) c.855T= (p.Tyr285=) c.819T= (p.Tyr273=) c.660T= (p.Tyr220=) | |
1 | g.173909829A>C | CA343774420 | SERPINC1 | c.876T>G (p.Tyr292Ter) n.527T>G c.559+2035T>G (n.559+2035T>G) c.732T>G (p.Tyr244Ter) c.999T>G (p.Tyr333Ter) c.957T>G (p.Tyr319Ter) c.855T>G (p.Tyr285Ter) c.819T>G (p.Tyr273Ter) c.660T>G (p.Tyr220Ter) | |
1 | g.173909829A>G | CA421942746 | SERPINC1 | c.876T>C (p.Tyr292=) n.527T>C c.559+2035T>C (n.559+2035T>C) c.732T>C (p.Tyr244=) c.999T>C (p.Tyr333=) c.957T>C (p.Tyr319=) c.855T>C (p.Tyr285=) c.819T>C (p.Tyr273=) c.660T>C (p.Tyr220=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.173909829A>T | CA343774422 | SERPINC1 | c.876T>A (p.Tyr292Ter) n.527T>A c.559+2035T>A (n.559+2035T>A) c.732T>A (p.Tyr244Ter) c.999T>A (p.Tyr333Ter) c.957T>A (p.Tyr319Ter) c.855T>A (p.Tyr285Ter) c.819T>A (p.Tyr273Ter) c.660T>A (p.Tyr220Ter) | |
1 | g.173909830T>A | CA1251320 | SERPINC1 | c.875A>T (p.Tyr292Phe) n.526A>T c.559+2034A>T (n.559+2034A>T) c.731A>T (p.Tyr244Phe) c.998A>T (p.Tyr333Phe) c.956A>T (p.Tyr319Phe) c.854A>T (p.Tyr285Phe) c.818A>T (p.Tyr273Phe) c.659A>T (p.Tyr220Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909830T>C | CA343774424 | SERPINC1 | c.875A>G (p.Tyr292Cys) n.526A>G c.559+2034A>G (n.559+2034A>G) c.731A>G (p.Tyr244Cys) c.998A>G (p.Tyr333Cys) c.956A>G (p.Tyr319Cys) c.854A>G (p.Tyr285Cys) c.818A>G (p.Tyr273Cys) c.659A>G (p.Tyr220Cys) | |
1 | g.173909830T>G | CA343774426 | SERPINC1 | c.875A>C (p.Tyr292Ser) n.526A>C c.559+2034A>C (n.559+2034A>C) c.731A>C (p.Tyr244Ser) c.998A>C (p.Tyr333Ser) c.956A>C (p.Tyr319Ser) c.854A>C (p.Tyr285Ser) c.818A>C (p.Tyr273Ser) c.659A>C (p.Tyr220Ser) | |
1 | g.173909830T= | CA1207937010 | SERPINC1 | c.875A= (p.Tyr292=) n.526A= c.559+2034A= (n.559+2034A=) c.731A= (p.Tyr244=) c.998A= (p.Tyr333=) c.956A= (p.Tyr319=) c.854A= (p.Tyr285=) c.818A= (p.Tyr273=) c.659A= (p.Tyr220=) |