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.173909649del | CA915940634 | SERPINC1 | c.1056del (p.Met352IlefsTer12) c.560-2156del (n.560-2156del) c.912del (p.Met304IlefsTer12) c.1179del (p.Met393IlefsTer12) c.1137del (p.Met379IlefsTer12) c.1035del (p.Met345IlefsTer12) c.999del (p.Met333IlefsTer12) c.840del (p.Met280IlefsTer12) | |
1 | g.173909649C>A | CA343773671 | SERPINC1 | c.1056G>T (p.Met352Ile) c.560-2156G>T (n.560-2156G>T) c.912G>T (p.Met304Ile) c.1179G>T (p.Met393Ile) c.1137G>T (p.Met379Ile) c.1035G>T (p.Met345Ile) c.999G>T (p.Met333Ile) c.840G>T (p.Met280Ile) | |
1 | g.173909649C>G | CA343773672 | SERPINC1 | c.1056G>C (p.Met352Ile) c.560-2156G>C (n.560-2156G>C) c.912G>C (p.Met304Ile) c.1179G>C (p.Met393Ile) c.1137G>C (p.Met379Ile) c.1035G>C (p.Met345Ile) c.999G>C (p.Met333Ile) c.840G>C (p.Met280Ile) | |
1 | g.173909649C>T | CA343773670 | SERPINC1 | c.1056G>A (p.Met352Ile) c.560-2156G>A (n.560-2156G>A) c.912G>A (p.Met304Ile) c.1179G>A (p.Met393Ile) c.1137G>A (p.Met379Ile) c.1035G>A (p.Met345Ile) c.999G>A (p.Met333Ile) c.840G>A (p.Met280Ile) | gnomAD v4 |
1 | g.173909650A>C | CA343773673 | SERPINC1 | c.1055T>G (p.Met352Arg) c.560-2157T>G (n.560-2157T>G) c.911T>G (p.Met304Arg) c.1178T>G (p.Met393Arg) c.1136T>G (p.Met379Arg) c.1034T>G (p.Met345Arg) c.998T>G (p.Met333Arg) c.839T>G (p.Met280Arg) | |
1 | g.173909650A>G | CA343773674 | SERPINC1 | c.1055T>C (p.Met352Thr) c.560-2157T>C (n.560-2157T>C) c.911T>C (p.Met304Thr) c.1178T>C (p.Met393Thr) c.1136T>C (p.Met379Thr) c.1034T>C (p.Met345Thr) c.998T>C (p.Met333Thr) c.839T>C (p.Met280Thr) | gnomAD v4 |
1 | g.173909650A>T | CA343773675 | SERPINC1 | c.1055T>A (p.Met352Lys) c.560-2157T>A (n.560-2157T>A) c.911T>A (p.Met304Lys) c.1178T>A (p.Met393Lys) c.1136T>A (p.Met379Lys) c.1034T>A (p.Met345Lys) c.998T>A (p.Met333Lys) c.839T>A (p.Met280Lys) | gnomAD v4 |
1 | g.173909651T>A | CA343773676 | SERPINC1 | c.1054A>T (p.Met352Leu) c.560-2158A>T (n.560-2158A>T) c.910A>T (p.Met304Leu) c.1177A>T (p.Met393Leu) c.1135A>T (p.Met379Leu) c.1033A>T (p.Met345Leu) c.997A>T (p.Met333Leu) c.838A>T (p.Met280Leu) | |
1 | g.173909651T>C | CA10608814 | SERPINC1 | c.1054A>G (p.Met352Val) c.560-2158A>G (n.560-2158A>G) c.910A>G (p.Met304Val) c.1177A>G (p.Met393Val) c.1135A>G (p.Met379Val) c.1033A>G (p.Met345Val) c.997A>G (p.Met333Val) c.838A>G (p.Met280Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.173909651T>G | CA343773684 | SERPINC1 | c.1054A>C (p.Met352Leu) c.560-2158A>C (n.560-2158A>C) c.910A>C (p.Met304Leu) c.1177A>C (p.Met393Leu) c.1135A>C (p.Met379Leu) c.1033A>C (p.Met345Leu) c.997A>C (p.Met333Leu) c.838A>C (p.Met280Leu) | |
1 | g.173909651T= | CA1207936930 | SERPINC1 | c.1054A= (p.Met352=) c.560-2158A= (n.560-2158A=) c.910A= (p.Met304=) c.1177A= (p.Met393=) c.1135A= (p.Met379=) c.1033A= (p.Met345=) c.997A= (p.Met333=) c.838A= (p.Met280=) | |
1 | g.173909652G>A | CA421942878 | SERPINC1 | c.1053C>T (p.His351=) c.560-2159C>T (n.560-2159C>T) c.909C>T (p.His303=) c.1176C>T (p.His392=) c.1134C>T (p.His378=) c.1032C>T (p.His344=) c.996C>T (p.His332=) c.837C>T (p.His279=) | dbSNP |
1 | g.173909652G>C | CA343773687 | SERPINC1 | c.1053C>G (p.His351Gln) c.560-2159C>G (n.560-2159C>G) c.909C>G (p.His303Gln) c.1176C>G (p.His392Gln) c.1134C>G (p.His378Gln) c.1032C>G (p.His344Gln) c.996C>G (p.His332Gln) c.837C>G (p.His279Gln) | |
1 | g.173909652G= | CA1207936931 | SERPINC1 | c.1053C= (p.His351=) c.560-2159C= (n.560-2159C=) c.909C= (p.His303=) c.1176C= (p.His392=) c.1134C= (p.His378=) c.1032C= (p.His344=) c.996C= (p.His332=) c.837C= (p.His279=) | |
1 | g.173909652G>T | CA343773689 | SERPINC1 | c.1053C>A (p.His351Gln) c.560-2159C>A (n.560-2159C>A) c.909C>A (p.His303Gln) c.1176C>A (p.His392Gln) c.1134C>A (p.His378Gln) c.1032C>A (p.His344Gln) c.996C>A (p.His332Gln) c.837C>A (p.His279Gln) | |
1 | g.173909653T>A | CA343773691 | SERPINC1 | c.1052A>T (p.His351Leu) c.560-2160A>T (n.560-2160A>T) c.908A>T (p.His303Leu) c.1175A>T (p.His392Leu) c.1133A>T (p.His378Leu) c.1031A>T (p.His344Leu) c.995A>T (p.His332Leu) c.836A>T (p.His279Leu) | gnomAD v4 |
1 | g.173909653T>C | CA343773692 | SERPINC1 | c.1052A>G (p.His351Arg) c.560-2160A>G (n.560-2160A>G) c.908A>G (p.His303Arg) c.1175A>G (p.His392Arg) c.1133A>G (p.His378Arg) c.1031A>G (p.His344Arg) c.995A>G (p.His332Arg) c.836A>G (p.His279Arg) | |
1 | g.173909653T>G | CA343773693 | SERPINC1 | c.1052A>C (p.His351Pro) c.560-2160A>C (n.560-2160A>C) c.908A>C (p.His303Pro) c.1175A>C (p.His392Pro) c.1133A>C (p.His378Pro) c.1031A>C (p.His344Pro) c.995A>C (p.His332Pro) c.836A>C (p.His279Pro) | |
1 | g.173909654G>A | CA32780255 | SERPINC1 | c.1051C>T (p.His351Tyr) c.560-2161C>T (n.560-2161C>T) c.907C>T (p.His303Tyr) c.1174C>T (p.His392Tyr) c.1132C>T (p.His378Tyr) c.1030C>T (p.His344Tyr) c.994C>T (p.His332Tyr) c.835C>T (p.His279Tyr) | ClinVar dbSNP gnomAD v4 |
1 | g.173909654G>C | CA343773697 | SERPINC1 | c.1051C>G (p.His351Asp) c.560-2161C>G (n.560-2161C>G) c.907C>G (p.His303Asp) c.1174C>G (p.His392Asp) c.1132C>G (p.His378Asp) c.1030C>G (p.His344Asp) c.994C>G (p.His332Asp) c.835C>G (p.His279Asp) | |
1 | g.173909654G= | CA1207936932 | SERPINC1 | c.1051C= (p.His351=) c.560-2161C= (n.560-2161C=) c.907C= (p.His303=) c.1174C= (p.His392=) c.1132C= (p.His378=) c.1030C= (p.His344=) c.994C= (p.His332=) c.835C= (p.His279=) | |
1 | g.173909654G>T | CA343773698 | SERPINC1 | c.1051C>A (p.His351Asn) c.560-2161C>A (n.560-2161C>A) c.907C>A (p.His303Asn) c.1174C>A (p.His392Asn) c.1132C>A (p.His378Asn) c.1030C>A (p.His344Asn) c.994C>A (p.His332Asn) c.835C>A (p.His279Asn) | |
1 | g.173909655G>A | CA32780259 | SERPINC1 | c.1050C>T (p.Val350=) c.560-2162C>T (n.560-2162C>T) c.906C>T (p.Val302=) c.1173C>T (p.Val391=) c.1131C>T (p.Val377=) c.1029C>T (p.Val343=) c.993C>T (p.Val331=) c.834C>T (p.Val278=) | dbSNP |
1 | g.173909655G>C | CA421942881 | SERPINC1 | c.1050C>G (p.Val350=) c.560-2162C>G (n.560-2162C>G) c.906C>G (p.Val302=) c.1173C>G (p.Val391=) c.1131C>G (p.Val377=) c.1029C>G (p.Val343=) c.993C>G (p.Val331=) c.834C>G (p.Val278=) | |
1 | g.173909655G= | CA1207936933 | SERPINC1 | c.1050C= (p.Val350=) c.560-2162C= (n.560-2162C=) c.906C= (p.Val302=) c.1173C= (p.Val391=) c.1131C= (p.Val377=) c.1029C= (p.Val343=) c.993C= (p.Val331=) c.834C= (p.Val278=) | |
1 | g.173909655G>T | CA421942882 | SERPINC1 | c.1050C>A (p.Val350=) c.560-2162C>A (n.560-2162C>A) c.906C>A (p.Val302=) c.1173C>A (p.Val391=) c.1131C>A (p.Val377=) c.1029C>A (p.Val343=) c.993C>A (p.Val331=) c.834C>A (p.Val278=) | |
1 | g.173909656A>C | CA343773702 | SERPINC1 | c.1049T>G (p.Val350Gly) c.560-2163T>G (n.560-2163T>G) c.905T>G (p.Val302Gly) c.1172T>G (p.Val391Gly) c.1130T>G (p.Val377Gly) c.1028T>G (p.Val343Gly) c.992T>G (p.Val331Gly) c.833T>G (p.Val278Gly) | |
1 | g.173909656A>G | CA343773704 | SERPINC1 | c.1049T>C (p.Val350Ala) c.560-2163T>C (n.560-2163T>C) c.905T>C (p.Val302Ala) c.1172T>C (p.Val391Ala) c.1130T>C (p.Val377Ala) c.1028T>C (p.Val343Ala) c.992T>C (p.Val331Ala) c.833T>C (p.Val278Ala) | |
1 | g.173909656A>T | CA343773706 | SERPINC1 | c.1049T>A (p.Val350Asp) c.560-2163T>A (n.560-2163T>A) c.905T>A (p.Val302Asp) c.1172T>A (p.Val391Asp) c.1130T>A (p.Val377Asp) c.1028T>A (p.Val343Asp) c.992T>A (p.Val331Asp) c.833T>A (p.Val278Asp) | |
1 | g.173909657C>A | CA343773707 | SERPINC1 | c.1048G>T (p.Val350Phe) c.560-2164G>T (n.560-2164G>T) c.904G>T (p.Val302Phe) c.1171G>T (p.Val391Phe) c.1129G>T (p.Val377Phe) c.1027G>T (p.Val343Phe) c.991G>T (p.Val331Phe) c.832G>T (p.Val278Phe) | |
1 | g.173909657C>G | CA343773710 | SERPINC1 | c.1048G>C (p.Val350Leu) c.560-2164G>C (n.560-2164G>C) c.904G>C (p.Val302Leu) c.1171G>C (p.Val391Leu) c.1129G>C (p.Val377Leu) c.1027G>C (p.Val343Leu) c.991G>C (p.Val331Leu) c.832G>C (p.Val278Leu) | |
1 | g.173909657C>T | CA343773712 | SERPINC1 | c.1048G>A (p.Val350Ile) c.560-2164G>A (n.560-2164G>A) c.904G>A (p.Val302Ile) c.1171G>A (p.Val391Ile) c.1129G>A (p.Val377Ile) c.1027G>A (p.Val343Ile) c.991G>A (p.Val331Ile) c.832G>A (p.Val278Ile) | |
1 | g.173909658C>A | CA421942886 | SERPINC1 | c.1047G>T (p.Val349=) c.560-2165G>T (n.560-2165G>T) c.903G>T (p.Val301=) c.1170G>T (p.Val390=) c.1128G>T (p.Val376=) c.1026G>T (p.Val342=) c.990G>T (p.Val330=) c.831G>T (p.Val277=) | |
1 | g.173909658C>G | CA421942885 | SERPINC1 | c.1047G>C (p.Val349=) c.560-2165G>C (n.560-2165G>C) c.903G>C (p.Val301=) c.1170G>C (p.Val390=) c.1128G>C (p.Val376=) c.1026G>C (p.Val342=) c.990G>C (p.Val330=) c.831G>C (p.Val277=) | |
1 | g.173909658C>T | CA421942884 | SERPINC1 | c.1047G>A (p.Val349=) c.560-2165G>A (n.560-2165G>A) c.903G>A (p.Val301=) c.1170G>A (p.Val390=) c.1128G>A (p.Val376=) c.1026G>A (p.Val342=) c.990G>A (p.Val330=) c.831G>A (p.Val277=) | |
1 | g.173909659A>C | CA343773714 | SERPINC1 | c.1046T>G (p.Val349Gly) c.560-2166T>G (n.560-2166T>G) c.902T>G (p.Val301Gly) c.1169T>G (p.Val390Gly) c.1127T>G (p.Val376Gly) c.1025T>G (p.Val342Gly) c.989T>G (p.Val330Gly) c.830T>G (p.Val277Gly) | gnomAD v4 |
1 | g.173909659A>G | CA343773716 | SERPINC1 | c.1046T>C (p.Val349Ala) c.560-2166T>C (n.560-2166T>C) c.902T>C (p.Val301Ala) c.1169T>C (p.Val390Ala) c.1127T>C (p.Val376Ala) c.1025T>C (p.Val342Ala) c.989T>C (p.Val330Ala) c.830T>C (p.Val277Ala) | |
1 | g.173909659A>T | CA343773718 | SERPINC1 | c.1046T>A (p.Val349Glu) c.560-2166T>A (n.560-2166T>A) c.902T>A (p.Val301Glu) c.1169T>A (p.Val390Glu) c.1127T>A (p.Val376Glu) c.1025T>A (p.Val342Glu) c.989T>A (p.Val330Glu) c.830T>A (p.Val277Glu) | |
1 | g.173909660C>A | CA343773720 | SERPINC1 | c.1045G>T (p.Val349Leu) c.560-2167G>T (n.560-2167G>T) c.901G>T (p.Val301Leu) c.1168G>T (p.Val390Leu) c.1126G>T (p.Val376Leu) c.1024G>T (p.Val342Leu) c.988G>T (p.Val330Leu) c.829G>T (p.Val277Leu) | |
1 | g.173909660C= | CA1207936934 | SERPINC1 | c.1045G= (p.Val349=) c.560-2167G= (n.560-2167G=) c.901G= (p.Val301=) c.1168G= (p.Val390=) c.1126G= (p.Val376=) c.1024G= (p.Val342=) c.988G= (p.Val330=) c.829G= (p.Val277=) | |
1 | g.173909660C>G | CA343773721 | SERPINC1 | c.1045G>C (p.Val349Leu) c.560-2167G>C (n.560-2167G>C) c.901G>C (p.Val301Leu) c.1168G>C (p.Val390Leu) c.1126G>C (p.Val376Leu) c.1024G>C (p.Val342Leu) c.988G>C (p.Val330Leu) c.829G>C (p.Val277Leu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.173909660C>T | CA343773723 | SERPINC1 | c.1045G>A (p.Val349Met) c.560-2167G>A (n.560-2167G>A) c.901G>A (p.Val301Met) c.1168G>A (p.Val390Met) c.1126G>A (p.Val376Met) c.1024G>A (p.Val342Met) c.988G>A (p.Val330Met) c.829G>A (p.Val277Met) | gnomAD v4 |
1 | g.173909661C>A | CA421942891 | SERPINC1 | c.1044G>T (p.Leu348=) c.560-2168G>T (n.560-2168G>T) c.900G>T (p.Leu300=) c.1167G>T (p.Leu389=) c.1125G>T (p.Leu375=) c.1023G>T (p.Leu341=) c.987G>T (p.Leu329=) c.828G>T (p.Leu276=) | dbSNP gnomAD v4 |
1 | g.173909661C= | CA1207936935 | SERPINC1 | c.1044G= (p.Leu348=) c.560-2168G= (n.560-2168G=) c.900G= (p.Leu300=) c.1167G= (p.Leu389=) c.1125G= (p.Leu375=) c.1023G= (p.Leu341=) c.987G= (p.Leu329=) c.828G= (p.Leu276=) | |
1 | g.173909661C>G | CA421942890 | SERPINC1 | c.1044G>C (p.Leu348=) c.560-2168G>C (n.560-2168G>C) c.900G>C (p.Leu300=) c.1167G>C (p.Leu389=) c.1125G>C (p.Leu375=) c.1023G>C (p.Leu341=) c.987G>C (p.Leu329=) c.828G>C (p.Leu276=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909661C>T | CA421942889 | SERPINC1 | c.1044G>A (p.Leu348=) c.560-2168G>A (n.560-2168G>A) c.900G>A (p.Leu300=) c.1167G>A (p.Leu389=) c.1125G>A (p.Leu375=) c.1023G>A (p.Leu341=) c.987G>A (p.Leu329=) c.828G>A (p.Leu276=) | |
1 | g.173909662A>C | CA343773724 | SERPINC1 | c.1043T>G (p.Leu348Arg) c.560-2169T>G (n.560-2169T>G) c.899T>G (p.Leu300Arg) c.1166T>G (p.Leu389Arg) c.1124T>G (p.Leu375Arg) c.1022T>G (p.Leu341Arg) c.986T>G (p.Leu329Arg) c.827T>G (p.Leu276Arg) | |
1 | g.173909662A>G | CA343773728 | SERPINC1 | c.1043T>C (p.Leu348Pro) c.560-2169T>C (n.560-2169T>C) c.899T>C (p.Leu300Pro) c.1166T>C (p.Leu389Pro) c.1124T>C (p.Leu375Pro) c.1022T>C (p.Leu341Pro) c.986T>C (p.Leu329Pro) c.827T>C (p.Leu276Pro) | |
1 | g.173909662A>T | CA343773726 | SERPINC1 | c.1043T>A (p.Leu348Gln) c.560-2169T>A (n.560-2169T>A) c.899T>A (p.Leu300Gln) c.1166T>A (p.Leu389Gln) c.1124T>A (p.Leu375Gln) c.1022T>A (p.Leu341Gln) c.986T>A (p.Leu329Gln) c.827T>A (p.Leu276Gln) | |
1 | g.173909663G>A | CA421942895 | SERPINC1 | c.1042C>T (p.Leu348=) c.560-2170C>T (n.560-2170C>T) c.898C>T (p.Leu300=) c.1165C>T (p.Leu389=) c.1123C>T (p.Leu375=) c.1021C>T (p.Leu341=) c.985C>T (p.Leu329=) c.826C>T (p.Leu276=) | dbSNP |
1 | g.173909663G>C | CA343773730 | SERPINC1 | c.1042C>G (p.Leu348Val) c.560-2170C>G (n.560-2170C>G) c.898C>G (p.Leu300Val) c.1165C>G (p.Leu389Val) c.1123C>G (p.Leu375Val) c.1021C>G (p.Leu341Val) c.985C>G (p.Leu329Val) c.826C>G (p.Leu276Val) | |
1 | g.173909663G= | CA1207936936 | SERPINC1 | c.1042C= (p.Leu348=) c.560-2170C= (n.560-2170C=) c.898C= (p.Leu300=) c.1165C= (p.Leu389=) c.1123C= (p.Leu375=) c.1021C= (p.Leu341=) c.985C= (p.Leu329=) c.826C= (p.Leu276=) | |
1 | g.173909663G>T | CA343773732 | SERPINC1 | c.1042C>A (p.Leu348Met) c.560-2170C>A (n.560-2170C>A) c.898C>A (p.Leu300Met) c.1165C>A (p.Leu389Met) c.1123C>A (p.Leu375Met) c.1021C>A (p.Leu341Met) c.985C>A (p.Leu329Met) c.826C>A (p.Leu276Met) | |
1 | g.173909664C>A | CA343773733 | SERPINC1 | c.1041G>T (p.Met347Ile) c.560-2171G>T (n.560-2171G>T) c.897G>T (p.Met299Ile) c.1164G>T (p.Met388Ile) c.1122G>T (p.Met374Ile) c.1020G>T (p.Met340Ile) c.984G>T (p.Met328Ile) c.825G>T (p.Met275Ile) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.173909664C= | CA1207936937 | SERPINC1 | c.1041G= (p.Met347=) c.560-2171G= (n.560-2171G=) c.897G= (p.Met299=) c.1164G= (p.Met388=) c.1122G= (p.Met374=) c.1020G= (p.Met340=) c.984G= (p.Met328=) c.825G= (p.Met275=) | |
1 | g.173909664C>G | CA343773735 | SERPINC1 | c.1041G>C (p.Met347Ile) c.560-2171G>C (n.560-2171G>C) c.897G>C (p.Met299Ile) c.1164G>C (p.Met388Ile) c.1122G>C (p.Met374Ile) c.1020G>C (p.Met340Ile) c.984G>C (p.Met328Ile) c.825G>C (p.Met275Ile) | |
1 | g.173909664C>T | CA343773738 | SERPINC1 | c.1041G>A (p.Met347Ile) c.560-2171G>A (n.560-2171G>A) c.897G>A (p.Met299Ile) c.1164G>A (p.Met388Ile) c.1122G>A (p.Met374Ile) c.1020G>A (p.Met340Ile) c.984G>A (p.Met328Ile) c.825G>A (p.Met275Ile) | |
1 | g.173909665A>C | CA343773739 | SERPINC1 | c.1040T>G (p.Met347Arg) c.560-2172T>G (n.560-2172T>G) c.896T>G (p.Met299Arg) c.1163T>G (p.Met388Arg) c.1121T>G (p.Met374Arg) c.1019T>G (p.Met340Arg) c.983T>G (p.Met328Arg) c.824T>G (p.Met275Arg) | |
1 | g.173909665A>G | CA343773741 | SERPINC1 | c.1040T>C (p.Met347Thr) c.560-2172T>C (n.560-2172T>C) c.896T>C (p.Met299Thr) c.1163T>C (p.Met388Thr) c.1121T>C (p.Met374Thr) c.1019T>C (p.Met340Thr) c.983T>C (p.Met328Thr) c.824T>C (p.Met275Thr) | |
1 | g.173909665A>T | CA343773743 | SERPINC1 | c.1040T>A (p.Met347Lys) c.560-2172T>A (n.560-2172T>A) c.896T>A (p.Met299Lys) c.1163T>A (p.Met388Lys) c.1121T>A (p.Met374Lys) c.1019T>A (p.Met340Lys) c.983T>A (p.Met328Lys) c.824T>A (p.Met275Lys) | gnomAD v4 |
1 | g.173909666T>A | CA343773745 | SERPINC1 | c.1039A>T (p.Met347Leu) c.560-2173A>T (n.560-2173A>T) c.895A>T (p.Met299Leu) c.1162A>T (p.Met388Leu) c.1120A>T (p.Met374Leu) c.1018A>T (p.Met340Leu) c.982A>T (p.Met328Leu) c.823A>T (p.Met275Leu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.173909666T>C | CA343773747 | SERPINC1 | c.1039A>G (p.Met347Val) c.560-2173A>G (n.560-2173A>G) c.895A>G (p.Met299Val) c.1162A>G (p.Met388Val) c.1120A>G (p.Met374Val) c.1018A>G (p.Met340Val) c.982A>G (p.Met328Val) c.823A>G (p.Met275Val) | |
1 | g.173909666T>G | CA343773749 | SERPINC1 | c.1039A>C (p.Met347Leu) c.560-2173A>C (n.560-2173A>C) c.895A>C (p.Met299Leu) c.1162A>C (p.Met388Leu) c.1120A>C (p.Met374Leu) c.1018A>C (p.Met340Leu) c.982A>C (p.Met328Leu) c.823A>C (p.Met275Leu) | gnomAD v4 |
1 | g.173909666T= | CA1207936938 | SERPINC1 | c.1039A= (p.Met347=) c.560-2173A= (n.560-2173A=) c.895A= (p.Met299=) c.1162A= (p.Met388=) c.1120A= (p.Met374=) c.1018A= (p.Met340=) c.982A= (p.Met328=) c.823A= (p.Met275=) | |
1 | g.173909667C>A | CA343773752 | SERPINC1 | c.1038G>T (p.Met346Ile) c.560-2174G>T (n.560-2174G>T) c.894G>T (p.Met298Ile) c.1161G>T (p.Met387Ile) c.1119G>T (p.Met373Ile) c.1017G>T (p.Met339Ile) c.981G>T (p.Met327Ile) c.822G>T (p.Met274Ile) | dbSNP |
1 | g.173909667C= | CA1207936939 | SERPINC1 | c.1038G= (p.Met346=) c.560-2174G= (n.560-2174G=) c.894G= (p.Met298=) c.1161G= (p.Met387=) c.1119G= (p.Met373=) c.1017G= (p.Met339=) c.981G= (p.Met327=) c.822G= (p.Met274=) | |
1 | g.173909667C>G | CA343773753 | SERPINC1 | c.1038G>C (p.Met346Ile) c.560-2174G>C (n.560-2174G>C) c.894G>C (p.Met298Ile) c.1161G>C (p.Met387Ile) c.1119G>C (p.Met373Ile) c.1017G>C (p.Met339Ile) c.981G>C (p.Met327Ile) c.822G>C (p.Met274Ile) | |
1 | g.173909667C>T | CA32780266 | SERPINC1 | c.1038G>A (p.Met346Ile) c.560-2174G>A (n.560-2174G>A) c.894G>A (p.Met298Ile) c.1161G>A (p.Met387Ile) c.1119G>A (p.Met373Ile) c.1017G>A (p.Met339Ile) c.981G>A (p.Met327Ile) c.822G>A (p.Met274Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909668A= | CA1207936940 | SERPINC1 | c.1037T= (p.Met346=) c.560-2175T= (n.560-2175T=) c.893T= (p.Met298=) c.1160T= (p.Met387=) c.1118T= (p.Met373=) c.1016T= (p.Met339=) c.980T= (p.Met327=) c.821T= (p.Met274=) | |
1 | g.173909668A>C | CA343773760 | SERPINC1 | c.1037T>G (p.Met346Arg) c.560-2175T>G (n.560-2175T>G) c.893T>G (p.Met298Arg) c.1160T>G (p.Met387Arg) c.1118T>G (p.Met373Arg) c.1016T>G (p.Met339Arg) c.980T>G (p.Met327Arg) c.821T>G (p.Met274Arg) | |
1 | g.173909668A>G | CA1251292 | SERPINC1 | c.1037T>C (p.Met346Thr) c.560-2175T>C (n.560-2175T>C) c.893T>C (p.Met298Thr) c.1160T>C (p.Met387Thr) c.1118T>C (p.Met373Thr) c.1016T>C (p.Met339Thr) c.980T>C (p.Met327Thr) c.821T>C (p.Met274Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909668A>T | CA343773757 | SERPINC1 | c.1037T>A (p.Met346Lys) c.560-2175T>A (n.560-2175T>A) c.893T>A (p.Met298Lys) c.1160T>A (p.Met387Lys) c.1118T>A (p.Met373Lys) c.1016T>A (p.Met339Lys) c.980T>A (p.Met327Lys) c.821T>A (p.Met274Lys) | |
1 | g.173909669T>A | CA343773762 | SERPINC1 | c.1036A>T (p.Met346Leu) c.560-2176A>T (n.560-2176A>T) c.892A>T (p.Met298Leu) c.1159A>T (p.Met387Leu) c.1117A>T (p.Met373Leu) c.1015A>T (p.Met339Leu) c.979A>T (p.Met327Leu) c.820A>T (p.Met274Leu) | |
1 | g.173909669T>C | CA343773764 | SERPINC1 | c.1036A>G (p.Met346Val) c.560-2176A>G (n.560-2176A>G) c.892A>G (p.Met298Val) c.1159A>G (p.Met387Val) c.1117A>G (p.Met373Val) c.1015A>G (p.Met339Val) c.979A>G (p.Met327Val) c.820A>G (p.Met274Val) | |
1 | g.173909669T>G | CA343773766 | SERPINC1 | c.1036A>C (p.Met346Leu) c.560-2176A>C (n.560-2176A>C) c.892A>C (p.Met298Leu) c.1159A>C (p.Met387Leu) c.1117A>C (p.Met373Leu) c.1015A>C (p.Met339Leu) c.979A>C (p.Met327Leu) c.820A>C (p.Met274Leu) | |
1 | g.173909669_173909672delinsTCTC | CA1207936941 | SERPINC1 | c.1033_1036delinsGAGA (p.Glu345=) c.560-2179_560-2176delinsGAGA (n.560-2179_560-2176delinsGAGA) c.889_892delinsGAGA (p.Glu297=) c.1156_1159delinsGAGA (p.Glu386=) c.1114_1117delinsGAGA (p.Glu372=) c.1012_1015delinsGAGA (p.Glu338=) c.976_979delinsGAGA (p.Glu326=) c.817_820delinsGAGA (p.Glu273=) | |
1 | g.173909670C>A | CA343773768 | SERPINC1 | c.1035G>T (p.Glu345Asp) c.560-2177G>T (n.560-2177G>T) c.891G>T (p.Glu297Asp) c.1158G>T (p.Glu386Asp) c.1116G>T (p.Glu372Asp) c.1014G>T (p.Glu338Asp) c.978G>T (p.Glu326Asp) c.819G>T (p.Glu273Asp) | |
1 | g.173909670C>G | CA343773770 | SERPINC1 | c.1035G>C (p.Glu345Asp) c.560-2177G>C (n.560-2177G>C) c.891G>C (p.Glu297Asp) c.1158G>C (p.Glu386Asp) c.1116G>C (p.Glu372Asp) c.1014G>C (p.Glu338Asp) c.978G>C (p.Glu326Asp) c.819G>C (p.Glu273Asp) | |
1 | g.173909670C>T | CA421942902 | SERPINC1 | c.1035G>A (p.Glu345=) c.560-2177G>A (n.560-2177G>A) c.891G>A (p.Glu297=) c.1158G>A (p.Glu386=) c.1116G>A (p.Glu372=) c.1014G>A (p.Glu338=) c.978G>A (p.Glu326=) c.819G>A (p.Glu273=) | COSMIC |
1 | g.173909670_173909676delinsCTCCTCC | CA1144233202 | SERPINC1 | c.1029_1035delinsGGAGGAG (p.Leu343=) c.560-2183_560-2177delinsGGAGGAG (n.560-2183_560-2177delinsGGAGGAG) c.885_891delinsGGAGGAG (p.Leu295=) c.1152_1158delinsGGAGGAG (p.Leu384=) c.1110_1116delinsGGAGGAG (p.Leu370=) c.1008_1014delinsGGAGGAG (p.Leu336=) c.972_978delinsGGAGGAG (p.Leu324=) c.813_819delinsGGAGGAG (p.Leu271=) | |
1 | g.173909674_173909676del | CA150670 | SERPINC1 | c.1033_1035del (p.Glu345del) c.560-2179_560-2177del (n.560-2179_560-2177del) c.889_891del (p.Glu297del) c.1156_1158del (p.Glu386del) c.1114_1116del (p.Glu372del) c.1012_1014del (p.Glu338del) c.976_978del (p.Glu326del) c.817_819del (p.Glu273del) | ClinVar dbSNP gnomAD v4 |
1 | g.173909671T>A | CA343773773 | SERPINC1 | c.1034A>T (p.Glu345Val) c.560-2178A>T (n.560-2178A>T) c.890A>T (p.Glu297Val) c.1157A>T (p.Glu386Val) c.1115A>T (p.Glu372Val) c.1013A>T (p.Glu338Val) c.977A>T (p.Glu326Val) c.818A>T (p.Glu273Val) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.173909671T>C | CA343773775 | SERPINC1 | c.1034A>G (p.Glu345Gly) c.560-2178A>G (n.560-2178A>G) c.890A>G (p.Glu297Gly) c.1157A>G (p.Glu386Gly) c.1115A>G (p.Glu372Gly) c.1013A>G (p.Glu338Gly) c.977A>G (p.Glu326Gly) c.818A>G (p.Glu273Gly) | |
1 | g.173909671T>G | CA343773776 | SERPINC1 | c.1034A>C (p.Glu345Ala) c.560-2178A>C (n.560-2178A>C) c.890A>C (p.Glu297Ala) c.1157A>C (p.Glu386Ala) c.1115A>C (p.Glu372Ala) c.1013A>C (p.Glu338Ala) c.977A>C (p.Glu326Ala) c.818A>C (p.Glu273Ala) | |
1 | g.173909671T= | CA1207936942 | SERPINC1 | c.1034A= (p.Glu345=) c.560-2178A= (n.560-2178A=) c.890A= (p.Glu297=) c.1157A= (p.Glu386=) c.1115A= (p.Glu372=) c.1013A= (p.Glu338=) c.977A= (p.Glu326=) c.818A= (p.Glu273=) | |
1 | g.173909672C>A | CA343773777 | SERPINC1 | c.1033G>T (p.Glu345Ter) c.560-2179G>T (n.560-2179G>T) c.889G>T (p.Glu297Ter) c.1156G>T (p.Glu386Ter) c.1114G>T (p.Glu372Ter) c.1012G>T (p.Glu338Ter) c.976G>T (p.Glu326Ter) c.817G>T (p.Glu273Ter) | |
1 | g.173909672C= | CA1207936943 | SERPINC1 | c.1033G= (p.Glu345=) c.560-2179G= (n.560-2179G=) c.889G= (p.Glu297=) c.1156G= (p.Glu386=) c.1114G= (p.Glu372=) c.1012G= (p.Glu338=) c.976G= (p.Glu326=) c.817G= (p.Glu273=) | |
1 | g.173909672C>G | CA343773779 | SERPINC1 | c.1033G>C (p.Glu345Gln) c.560-2179G>C (n.560-2179G>C) c.889G>C (p.Glu297Gln) c.1156G>C (p.Glu386Gln) c.1114G>C (p.Glu372Gln) c.1012G>C (p.Glu338Gln) c.976G>C (p.Glu326Gln) c.817G>C (p.Glu273Gln) | |
1 | g.173909672C>T | CA343773780 | SERPINC1 | c.1033G>A (p.Glu345Lys) c.560-2179G>A (n.560-2179G>A) c.889G>A (p.Glu297Lys) c.1156G>A (p.Glu386Lys) c.1114G>A (p.Glu372Lys) c.1012G>A (p.Glu338Lys) c.976G>A (p.Glu326Lys) c.817G>A (p.Glu273Lys) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.173909673C>A | CA343773782 | SERPINC1 | c.1032G>T (p.Glu344Asp) c.560-2180G>T (n.560-2180G>T) c.888G>T (p.Glu296Asp) c.1155G>T (p.Glu385Asp) c.1113G>T (p.Glu371Asp) c.1011G>T (p.Glu337Asp) c.975G>T (p.Glu325Asp) c.816G>T (p.Glu272Asp) | |
1 | g.173909673C= | CA1207936944 | SERPINC1 | c.1032G= (p.Glu344=) c.560-2180G= (n.560-2180G=) c.888G= (p.Glu296=) c.1155G= (p.Glu385=) c.1113G= (p.Glu371=) c.1011G= (p.Glu337=) c.975G= (p.Glu325=) c.816G= (p.Glu272=) | |
1 | g.173909673C>G | CA343773784 | SERPINC1 | c.1032G>C (p.Glu344Asp) c.560-2180G>C (n.560-2180G>C) c.888G>C (p.Glu296Asp) c.1155G>C (p.Glu385Asp) c.1113G>C (p.Glu371Asp) c.1011G>C (p.Glu337Asp) c.975G>C (p.Glu325Asp) c.816G>C (p.Glu272Asp) | |
1 | g.173909673C>T | CA421942903 | SERPINC1 | c.1032G>A (p.Glu344=) c.560-2180G>A (n.560-2180G>A) c.888G>A (p.Glu296=) c.1155G>A (p.Glu385=) c.1113G>A (p.Glu371=) c.1011G>A (p.Glu337=) c.975G>A (p.Glu325=) c.816G>A (p.Glu272=) | dbSNP |
1 | g.173909674T>A | CA343773786 | SERPINC1 | c.1031A>T (p.Glu344Val) c.560-2181A>T (n.560-2181A>T) c.887A>T (p.Glu296Val) c.1154A>T (p.Glu385Val) c.1112A>T (p.Glu371Val) c.1010A>T (p.Glu337Val) c.974A>T (p.Glu325Val) c.815A>T (p.Glu272Val) | |
1 | g.173909674T>C | CA343773787 | SERPINC1 | c.1031A>G (p.Glu344Gly) c.560-2181A>G (n.560-2181A>G) c.887A>G (p.Glu296Gly) c.1154A>G (p.Glu385Gly) c.1112A>G (p.Glu371Gly) c.1010A>G (p.Glu337Gly) c.974A>G (p.Glu325Gly) c.815A>G (p.Glu272Gly) | |
1 | g.173909674T>G | CA343773788 | SERPINC1 | c.1031A>C (p.Glu344Ala) c.560-2181A>C (n.560-2181A>C) c.887A>C (p.Glu296Ala) c.1154A>C (p.Glu385Ala) c.1112A>C (p.Glu371Ala) c.1010A>C (p.Glu337Ala) c.974A>C (p.Glu325Ala) c.815A>C (p.Glu272Ala) | dbSNP |
1 | g.173909674T= | CA1207936945 | SERPINC1 | c.1031A= (p.Glu344=) c.560-2181A= (n.560-2181A=) c.887A= (p.Glu296=) c.1154A= (p.Glu385=) c.1112A= (p.Glu371=) c.1010A= (p.Glu337=) c.974A= (p.Glu325=) c.815A= (p.Glu272=) | |
1 | g.173909675C>A | CA343773790 | SERPINC1 | c.1030G>T (p.Glu344Ter) c.560-2182G>T (n.560-2182G>T) c.886G>T (p.Glu296Ter) c.1153G>T (p.Glu385Ter) c.1111G>T (p.Glu371Ter) c.1009G>T (p.Glu337Ter) c.973G>T (p.Glu325Ter) c.814G>T (p.Glu272Ter) | dbSNP |
1 | g.173909675C= | CA1207936946 | SERPINC1 | c.1030G= (p.Glu344=) c.560-2182G= (n.560-2182G=) c.886G= (p.Glu296=) c.1153G= (p.Glu385=) c.1111G= (p.Glu371=) c.1009G= (p.Glu337=) c.973G= (p.Glu325=) c.814G= (p.Glu272=) | |
1 | g.173909675C>G | CA343773792 | SERPINC1 | c.1030G>C (p.Glu344Gln) c.560-2182G>C (n.560-2182G>C) c.886G>C (p.Glu296Gln) c.1153G>C (p.Glu385Gln) c.1111G>C (p.Glu371Gln) c.1009G>C (p.Glu337Gln) c.973G>C (p.Glu325Gln) c.814G>C (p.Glu272Gln) | |
1 | g.173909675C>T | CA1251293 | SERPINC1 | c.1030G>A (p.Glu344Lys) c.560-2182G>A (n.560-2182G>A) c.886G>A (p.Glu296Lys) c.1153G>A (p.Glu385Lys) c.1111G>A (p.Glu371Lys) c.1009G>A (p.Glu337Lys) c.973G>A (p.Glu325Lys) c.814G>A (p.Glu272Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.173909676C>A | CA1251294 | SERPINC1 | c.1029G>T (p.Leu343Phe) c.560-2183G>T (n.560-2183G>T) c.885G>T (p.Leu295Phe) c.1152G>T (p.Leu384Phe) c.1110G>T (p.Leu370Phe) c.1008G>T (p.Leu336Phe) c.972G>T (p.Leu324Phe) c.813G>T (p.Leu271Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.173909676C= | CA1148229704 | SERPINC1 | c.1029G= (p.Leu343=) c.560-2183G= (n.560-2183G=) c.885G= (p.Leu295=) c.1152G= (p.Leu384=) c.1110G= (p.Leu370=) c.1008G= (p.Leu336=) c.972G= (p.Leu324=) c.813G= (p.Leu271=) | |
1 | g.173909676C>G | CA343773795 | SERPINC1 | c.1029G>C (p.Leu343Phe) c.560-2183G>C (n.560-2183G>C) c.885G>C (p.Leu295Phe) c.1152G>C (p.Leu384Phe) c.1110G>C (p.Leu370Phe) c.1008G>C (p.Leu336Phe) c.972G>C (p.Leu324Phe) c.813G>C (p.Leu271Phe) | |
1 | g.173909676C>T | CA421942905 | SERPINC1 | c.1029G>A (p.Leu343=) c.560-2183G>A (n.560-2183G>A) c.885G>A (p.Leu295=) c.1152G>A (p.Leu384=) c.1110G>A (p.Leu370=) c.1008G>A (p.Leu336=) c.972G>A (p.Leu324=) c.813G>A (p.Leu271=) | |
1 | g.173909677A= | CA1207936947 | SERPINC1 | c.1028T= (p.Leu343=) c.560-2184T= (n.560-2184T=) c.884T= (p.Leu295=) c.1151T= (p.Leu384=) c.1109T= (p.Leu370=) c.1007T= (p.Leu336=) c.971T= (p.Leu324=) c.812T= (p.Leu271=) | |
1 | g.173909677A>C | CA343773798 | SERPINC1 | c.1028T>G (p.Leu343Trp) c.560-2184T>G (n.560-2184T>G) c.884T>G (p.Leu295Trp) c.1151T>G (p.Leu384Trp) c.1109T>G (p.Leu370Trp) c.1007T>G (p.Leu336Trp) c.971T>G (p.Leu324Trp) c.812T>G (p.Leu271Trp) | |
1 | g.173909677A>G | CA343773799 | SERPINC1 | c.1028T>C (p.Leu343Ser) c.560-2184T>C (n.560-2184T>C) c.884T>C (p.Leu295Ser) c.1151T>C (p.Leu384Ser) c.1109T>C (p.Leu370Ser) c.1007T>C (p.Leu336Ser) c.971T>C (p.Leu324Ser) c.812T>C (p.Leu271Ser) | dbSNP gnomAD v4 |
1 | g.173909677A>T | CA343773801 | SERPINC1 | c.1028T>A (p.Leu343Ter) c.560-2184T>A (n.560-2184T>A) c.884T>A (p.Leu295Ter) c.1151T>A (p.Leu384Ter) c.1109T>A (p.Leu370Ter) c.1007T>A (p.Leu336Ter) c.971T>A (p.Leu324Ter) c.812T>A (p.Leu271Ter) | |
1 | g.173909678A= | CA1207936948 | SERPINC1 | c.1027T= (p.Leu343=) c.560-2185T= (n.560-2185T=) c.883T= (p.Leu295=) c.1150T= (p.Leu384=) c.1108T= (p.Leu370=) c.1006T= (p.Leu336=) c.970T= (p.Leu324=) c.811T= (p.Leu271=) | |
1 | g.173909678A>C | CA343773803 | SERPINC1 | c.1027T>G (p.Leu343Val) c.560-2185T>G (n.560-2185T>G) c.883T>G (p.Leu295Val) c.1150T>G (p.Leu384Val) c.1108T>G (p.Leu370Val) c.1006T>G (p.Leu336Val) c.970T>G (p.Leu324Val) c.811T>G (p.Leu271Val) | |
1 | g.173909678A>G | CA421942906 | SERPINC1 | c.1027T>C (p.Leu343=) c.560-2185T>C (n.560-2185T>C) c.883T>C (p.Leu295=) c.1150T>C (p.Leu384=) c.1108T>C (p.Leu370=) c.1006T>C (p.Leu336=) c.970T>C (p.Leu324=) c.811T>C (p.Leu271=) | dbSNP gnomAD v4 |
1 | g.173909678A>T | CA343773805 | SERPINC1 | c.1027T>A (p.Leu343Met) c.560-2185T>A (n.560-2185T>A) c.883T>A (p.Leu295Met) c.1150T>A (p.Leu384Met) c.1108T>A (p.Leu370Met) c.1006T>A (p.Leu336Met) c.970T>A (p.Leu324Met) c.811T>A (p.Leu271Met) | |
1 | g.173909679T>A | CA343773807 | SERPINC1 | c.1026A>T (p.Glu342Asp) c.560-2186A>T (n.560-2186A>T) c.882A>T (p.Glu294Asp) c.1149A>T (p.Glu383Asp) c.1107A>T (p.Glu369Asp) c.1005A>T (p.Glu335Asp) c.969A>T (p.Glu323Asp) c.810A>T (p.Glu270Asp) | |
1 | g.173909679T>C | CA421942910 | SERPINC1 | c.1026A>G (p.Glu342=) c.560-2186A>G (n.560-2186A>G) c.882A>G (p.Glu294=) c.1149A>G (p.Glu383=) c.1107A>G (p.Glu369=) c.1005A>G (p.Glu335=) c.969A>G (p.Glu323=) c.810A>G (p.Glu270=) | dbSNP |
1 | g.173909679T>G | CA343773808 | SERPINC1 | c.1026A>C (p.Glu342Asp) c.560-2186A>C (n.560-2186A>C) c.882A>C (p.Glu294Asp) c.1149A>C (p.Glu383Asp) c.1107A>C (p.Glu369Asp) c.1005A>C (p.Glu335Asp) c.969A>C (p.Glu323Asp) c.810A>C (p.Glu270Asp) | |
1 | g.173909679T= | CA1207936949 | SERPINC1 | c.1026A= (p.Glu342=) c.560-2186A= (n.560-2186A=) c.882A= (p.Glu294=) c.1149A= (p.Glu383=) c.1107A= (p.Glu369=) c.1005A= (p.Glu335=) c.969A= (p.Glu323=) c.810A= (p.Glu270=) | |
1 | g.173909680del | CA2586964403 | SERPINC1 | c.1026del (p.Glu342AspfsTer5) c.560-2186del (n.560-2186del) c.882del (p.Glu294AspfsTer5) c.1149del (p.Glu383AspfsTer5) c.1107del (p.Glu369AspfsTer5) c.1005del (p.Glu335AspfsTer5) c.969del (p.Glu323AspfsTer5) c.810del (p.Glu270AspfsTer5) | |
1 | g.173909680T>A | CA343773810 | SERPINC1 | c.1025A>T (p.Glu342Val) c.559+2184A>T (n.559+2184A>T) c.881A>T (p.Glu294Val) c.1148A>T (p.Glu383Val) c.1106A>T (p.Glu369Val) c.1004A>T (p.Glu335Val) c.968A>T (p.Glu323Val) c.809A>T (p.Glu270Val) | |
1 | g.173909680T>C | CA343773812 | SERPINC1 | c.1025A>G (p.Glu342Gly) c.559+2184A>G (n.559+2184A>G) c.881A>G (p.Glu294Gly) c.1148A>G (p.Glu383Gly) c.1106A>G (p.Glu369Gly) c.1004A>G (p.Glu335Gly) c.968A>G (p.Glu323Gly) c.809A>G (p.Glu270Gly) | |
1 | g.173909680T>G | CA343773814 | SERPINC1 | c.1025A>C (p.Glu342Ala) c.559+2184A>C (n.559+2184A>C) c.881A>C (p.Glu294Ala) c.1148A>C (p.Glu383Ala) c.1106A>C (p.Glu369Ala) c.1004A>C (p.Glu335Ala) c.968A>C (p.Glu323Ala) c.809A>C (p.Glu270Ala) | |
1 | g.173909680_173909684delinsTCATC | CA1207936950 | SERPINC1 | c.1021_1025delinsGATGA (p.Asp341=) c.559+2180_559+2184delinsGATGA (n.559+2180_559+2184delinsGATGA) c.877_881delinsGATGA (p.Asp293=) c.1144_1148delinsGATGA (p.Asp382=) c.1102_1106delinsGATGA (p.Asp368=) c.1000_1004delinsGATGA (p.Asp334=) c.964_968delinsGATGA (p.Asp322=) c.805_809delinsGATGA (p.Asp269=) | |
1 | g.173909681C>A | CA343773816 | SERPINC1 | c.1024G>T (p.Glu342Ter) c.559+2183G>T (n.559+2183G>T) c.880G>T (p.Glu294Ter) c.1147G>T (p.Glu383Ter) c.1105G>T (p.Glu369Ter) c.1003G>T (p.Glu335Ter) c.967G>T (p.Glu323Ter) c.808G>T (p.Glu270Ter) | |
1 | g.173909681C= | CA1207936951 | SERPINC1 | c.1024G= (p.Glu342=) c.559+2183G= (n.559+2183G=) c.880G= (p.Glu294=) c.1147G= (p.Glu383=) c.1105G= (p.Glu369=) c.1003G= (p.Glu335=) c.967G= (p.Glu323=) c.808G= (p.Glu270=) | |
1 | g.173909681C>G | CA343773818 | SERPINC1 | c.1024G>C (p.Glu342Gln) c.559+2183G>C (n.559+2183G>C) c.880G>C (p.Glu294Gln) c.1147G>C (p.Glu383Gln) c.1105G>C (p.Glu369Gln) c.1003G>C (p.Glu335Gln) c.967G>C (p.Glu323Gln) c.808G>C (p.Glu270Gln) | |
1 | g.173909681C>T | CA343773819 | SERPINC1 | c.1024G>A (p.Glu342Lys) c.559+2183G>A (n.559+2183G>A) c.880G>A (p.Glu294Lys) c.1147G>A (p.Glu383Lys) c.1105G>A (p.Glu369Lys) c.1003G>A (p.Glu335Lys) c.967G>A (p.Glu323Lys) c.808G>A (p.Glu270Lys) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.173909681_173909686del | CA2582301469 | SERPINC1 | c.1019_1024del (p.Leu340_Glu342delinsGln) c.559+2178_559+2183del (n.559+2178_559+2183del) c.875_880del (p.Leu292_Glu294delinsGln) c.1142_1147del (p.Leu381_Glu383delinsGln) c.1100_1105del (p.Leu367_Glu369delinsGln) c.998_1003del (p.Leu333_Glu335delinsGln) c.962_967del (p.Leu321_Glu323delinsGln) c.803_808del (p.Leu268_Glu270delinsGln) | |
1 | g.173909681_173909686delinsCATCCA | CA1141581218 | SERPINC1 | c.1019_1024delinsTGGATG (p.Leu340=) c.559+2178_559+2183delinsTGGATG (n.559+2178_559+2183delinsTGGATG) c.875_880delinsTGGATG (p.Leu292=) c.1142_1147delinsTGGATG (p.Leu381=) c.1100_1105delinsTGGATG (p.Leu367=) c.998_1003delinsTGGATG (p.Leu333=) c.962_967delinsTGGATG (p.Leu321=) c.803_808delinsTGGATG (p.Leu268=) | |
1 | g.173909683_173909686del | CA210775 | SERPINC1 | c.1021_1024del (p.Asp341AsnfsTer5) c.559+2180_559+2183del (n.559+2180_559+2183del) c.877_880del (p.Asp293AsnfsTer5) c.1144_1147del (p.Asp382AsnfsTer5) c.1102_1105del (p.Asp368AsnfsTer5) c.1000_1003del (p.Asp334AsnfsTer5) c.964_967del (p.Asp322AsnfsTer5) c.805_808del (p.Asp269AsnfsTer5) | ClinVar dbSNP |
1 | g.173909682A>C | CA343773823 | SERPINC1 | c.1023T>G (p.Asp341Glu) c.559+2182T>G (n.559+2182T>G) c.879T>G (p.Asp293Glu) c.1146T>G (p.Asp382Glu) c.1104T>G (p.Asp368Glu) c.1002T>G (p.Asp334Glu) c.966T>G (p.Asp322Glu) c.807T>G (p.Asp269Glu) | |
1 | g.173909682A>G | CA421942912 | SERPINC1 | c.1023T>C (p.Asp341=) c.559+2182T>C (n.559+2182T>C) c.879T>C (p.Asp293=) c.1146T>C (p.Asp382=) c.1104T>C (p.Asp368=) c.1002T>C (p.Asp334=) c.966T>C (p.Asp322=) c.807T>C (p.Asp269=) | |
1 | g.173909682A>T | CA343773824 | SERPINC1 | c.1023T>A (p.Asp341Glu) c.559+2182T>A (n.559+2182T>A) c.879T>A (p.Asp293Glu) c.1146T>A (p.Asp382Glu) c.1104T>A (p.Asp368Glu) c.1002T>A (p.Asp334Glu) c.966T>A (p.Asp322Glu) c.807T>A (p.Asp269Glu) | |
1 | g.173909682_173909683del | CA645537736 | SERPINC1 | c.1022_1023del (p.Asp341GlyfsTer17) c.559+2181_559+2182del (n.559+2181_559+2182del) c.878_879del (p.Asp293GlyfsTer17) c.1145_1146del (p.Asp382GlyfsTer17) c.1103_1104del (p.Asp368GlyfsTer17) c.1001_1002del (p.Asp334GlyfsTer17) c.965_966del (p.Asp322GlyfsTer17) c.806_807del (p.Asp269GlyfsTer17) | COSMIC |
1 | g.173909683T>A | CA343773827 | SERPINC1 | c.1022A>T (p.Asp341Val) c.559+2181A>T (n.559+2181A>T) c.878A>T (p.Asp293Val) c.1145A>T (p.Asp382Val) c.1103A>T (p.Asp368Val) c.1001A>T (p.Asp334Val) c.965A>T (p.Asp322Val) c.806A>T (p.Asp269Val) | dbSNP gnomAD v4 |
1 | g.173909683T>C | CA1251295 | SERPINC1 | c.1022A>G (p.Asp341Gly) c.559+2181A>G (n.559+2181A>G) c.878A>G (p.Asp293Gly) c.1145A>G (p.Asp382Gly) c.1103A>G (p.Asp368Gly) c.1001A>G (p.Asp334Gly) c.965A>G (p.Asp322Gly) c.806A>G (p.Asp269Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.173909683T>G | CA343773829 | SERPINC1 | c.1022A>C (p.Asp341Ala) c.559+2181A>C (n.559+2181A>C) c.878A>C (p.Asp293Ala) c.1145A>C (p.Asp382Ala) c.1103A>C (p.Asp368Ala) c.1001A>C (p.Asp334Ala) c.965A>C (p.Asp322Ala) c.806A>C (p.Asp269Ala) | |
1 | g.173909683T= | CA1207936952 | SERPINC1 | c.1022A= (p.Asp341=) c.559+2181A= (n.559+2181A=) c.878A= (p.Asp293=) c.1145A= (p.Asp382=) c.1103A= (p.Asp368=) c.1001A= (p.Asp334=) c.965A= (p.Asp322=) c.806A= (p.Asp269=) | |
1 | g.173909684C>A | CA343773833 | SERPINC1 | c.1021G>T (p.Asp341Tyr) c.559+2180G>T (n.559+2180G>T) c.877G>T (p.Asp293Tyr) c.1144G>T (p.Asp382Tyr) c.1102G>T (p.Asp368Tyr) c.1000G>T (p.Asp334Tyr) c.964G>T (p.Asp322Tyr) c.805G>T (p.Asp269Tyr) | |
1 | g.173909684C>G | CA343773835 | SERPINC1 | c.1021G>C (p.Asp341His) c.559+2180G>C (n.559+2180G>C) c.877G>C (p.Asp293His) c.1144G>C (p.Asp382His) c.1102G>C (p.Asp368His) c.1000G>C (p.Asp334His) c.964G>C (p.Asp322His) c.805G>C (p.Asp269His) | |
1 | g.173909684C>T | CA343773831 | SERPINC1 | c.1021G>A (p.Asp341Asn) c.559+2180G>A (n.559+2180G>A) c.877G>A (p.Asp293Asn) c.1144G>A (p.Asp382Asn) c.1102G>A (p.Asp368Asn) c.1000G>A (p.Asp334Asn) c.964G>A (p.Asp322Asn) c.805G>A (p.Asp269Asn) | |
1 | g.173909685C>A | CA421942914 | SERPINC1 | c.1020G>T (p.Leu340=) c.559+2179G>T (n.559+2179G>T) c.876G>T (p.Leu292=) c.1143G>T (p.Leu381=) c.1101G>T (p.Leu367=) c.999G>T (p.Leu333=) c.963G>T (p.Leu321=) c.804G>T (p.Leu268=) | |
1 | g.173909685C>G | CA421942915 | SERPINC1 | c.1020G>C (p.Leu340=) c.559+2179G>C (n.559+2179G>C) c.876G>C (p.Leu292=) c.1143G>C (p.Leu381=) c.1101G>C (p.Leu367=) c.999G>C (p.Leu333=) c.963G>C (p.Leu321=) c.804G>C (p.Leu268=) | |
1 | g.173909685C>T | CA421942916 | SERPINC1 | c.1020G>A (p.Leu340=) c.559+2179G>A (n.559+2179G>A) c.876G>A (p.Leu292=) c.1143G>A (p.Leu381=) c.1101G>A (p.Leu367=) c.999G>A (p.Leu333=) c.963G>A (p.Leu321=) c.804G>A (p.Leu268=) | gnomAD v4 |
1 | g.173909686A>C | CA343773840 | SERPINC1 | c.1019T>G (p.Leu340Arg) c.559+2178T>G (n.559+2178T>G) c.875T>G (p.Leu292Arg) c.1142T>G (p.Leu381Arg) c.1100T>G (p.Leu367Arg) c.998T>G (p.Leu333Arg) c.962T>G (p.Leu321Arg) c.803T>G (p.Leu268Arg) | |
1 | g.173909686A>G | CA343773837 | SERPINC1 | c.1019T>C (p.Leu340Pro) c.559+2178T>C (n.559+2178T>C) c.875T>C (p.Leu292Pro) c.1142T>C (p.Leu381Pro) c.1100T>C (p.Leu367Pro) c.998T>C (p.Leu333Pro) c.962T>C (p.Leu321Pro) c.803T>C (p.Leu268Pro) | |
1 | g.173909686A>T | CA343773838 | SERPINC1 | c.1019T>A (p.Leu340Gln) c.559+2178T>A (n.559+2178T>A) c.875T>A (p.Leu292Gln) c.1142T>A (p.Leu381Gln) c.1100T>A (p.Leu367Gln) c.998T>A (p.Leu333Gln) c.962T>A (p.Leu321Gln) c.803T>A (p.Leu268Gln) | |
1 | g.173909687G>A | CA421942917 | SERPINC1 | c.1018C>T (p.Leu340=) c.559+2177C>T (n.559+2177C>T) c.874C>T (p.Leu292=) c.1141C>T (p.Leu381=) c.1099C>T (p.Leu367=) c.997C>T (p.Leu333=) c.961C>T (p.Leu321=) c.802C>T (p.Leu268=) | dbSNP gnomAD v2 COSMIC |
1 | g.173909687G>C | CA343773842 | SERPINC1 | c.1018C>G (p.Leu340Val) c.559+2177C>G (n.559+2177C>G) c.874C>G (p.Leu292Val) c.1141C>G (p.Leu381Val) c.1099C>G (p.Leu367Val) c.997C>G (p.Leu333Val) c.961C>G (p.Leu321Val) c.802C>G (p.Leu268Val) | |
1 | g.173909687G= | CA1207936953 | SERPINC1 | c.1018C= (p.Leu340=) c.559+2177C= (n.559+2177C=) c.874C= (p.Leu292=) c.1141C= (p.Leu381=) c.1099C= (p.Leu367=) c.997C= (p.Leu333=) c.961C= (p.Leu321=) c.802C= (p.Leu268=) | |
1 | g.173909687G>T | CA343773844 | SERPINC1 | c.1018C>A (p.Leu340Met) c.559+2177C>A (n.559+2177C>A) c.874C>A (p.Leu292Met) c.1141C>A (p.Leu381Met) c.1099C>A (p.Leu367Met) c.997C>A (p.Leu333Met) c.961C>A (p.Leu321Met) c.802C>A (p.Leu268Met) | |
1 | g.173909688C>A | CA343773846 | SERPINC1 | c.1017G>T (p.Trp339Cys) c.559+2176G>T (n.559+2176G>T) c.873G>T (p.Trp291Cys) c.1140G>T (p.Trp380Cys) c.1098G>T (p.Trp366Cys) c.996G>T (p.Trp332Cys) c.960G>T (p.Trp320Cys) c.801G>T (p.Trp267Cys) | |
1 | g.173909688C>G | CA343773848 | SERPINC1 | c.1017G>C (p.Trp339Cys) c.559+2176G>C (n.559+2176G>C) c.873G>C (p.Trp291Cys) c.1140G>C (p.Trp380Cys) c.1098G>C (p.Trp366Cys) c.996G>C (p.Trp332Cys) c.960G>C (p.Trp320Cys) c.801G>C (p.Trp267Cys) | |
1 | g.173909688C>T | CA343773850 | SERPINC1 | c.1017G>A (p.Trp339Ter) c.559+2176G>A (n.559+2176G>A) c.873G>A (p.Trp291Ter) c.1140G>A (p.Trp380Ter) c.1098G>A (p.Trp366Ter) c.996G>A (p.Trp332Ter) c.960G>A (p.Trp320Ter) c.801G>A (p.Trp267Ter) | |
1 | g.173909689C>A | CA343773855 | SERPINC1 | c.1016G>T (p.Trp339Leu) c.559+2175G>T (n.559+2175G>T) c.872G>T (p.Trp291Leu) c.1139G>T (p.Trp380Leu) c.1097G>T (p.Trp366Leu) c.995G>T (p.Trp332Leu) c.959G>T (p.Trp320Leu) c.800G>T (p.Trp267Leu) | |
1 | g.173909689C= | CA1144233205 | SERPINC1 | c.1016G= (p.Trp339=) c.559+2175G= (n.559+2175G=) c.872G= (p.Trp291=) c.1139G= (p.Trp380=) c.1097G= (p.Trp366=) c.995G= (p.Trp332=) c.959G= (p.Trp320=) c.800G= (p.Trp267=) | |
1 | g.173909689C>G | CA343773852 | SERPINC1 | c.1016G>C (p.Trp339Ser) c.559+2175G>C (n.559+2175G>C) c.872G>C (p.Trp291Ser) c.1139G>C (p.Trp380Ser) c.1097G>C (p.Trp366Ser) c.995G>C (p.Trp332Ser) c.959G>C (p.Trp320Ser) c.800G>C (p.Trp267Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909689C>T | CA150667 | SERPINC1 | c.1016G>A (p.Trp339Ter) c.559+2175G>A (n.559+2175G>A) c.872G>A (p.Trp291Ter) c.1139G>A (p.Trp380Ter) c.1097G>A (p.Trp366Ter) c.995G>A (p.Trp332Ter) c.959G>A (p.Trp320Ter) c.800G>A (p.Trp267Ter) | ClinVar dbSNP |
1 | g.173909690A>C | CA343773856 | SERPINC1 | c.1015T>G (p.Trp339Gly) c.559+2174T>G (n.559+2174T>G) c.871T>G (p.Trp291Gly) c.1138T>G (p.Trp380Gly) c.1096T>G (p.Trp366Gly) c.994T>G (p.Trp332Gly) c.958T>G (p.Trp320Gly) c.799T>G (p.Trp267Gly) | |
1 | g.173909690A>G | CA343773858 | SERPINC1 | c.1015T>C (p.Trp339Arg) c.559+2174T>C (n.559+2174T>C) c.871T>C (p.Trp291Arg) c.1138T>C (p.Trp380Arg) c.1096T>C (p.Trp366Arg) c.994T>C (p.Trp332Arg) c.958T>C (p.Trp320Arg) c.799T>C (p.Trp267Arg) | |
1 | g.173909690A>T | CA343773860 | SERPINC1 | c.1015T>A (p.Trp339Arg) c.559+2174T>A (n.559+2174T>A) c.871T>A (p.Trp291Arg) c.1138T>A (p.Trp380Arg) c.1096T>A (p.Trp366Arg) c.994T>A (p.Trp332Arg) c.958T>A (p.Trp320Arg) c.799T>A (p.Trp267Arg) | COSMIC |
1 | g.173909691C>A | CA343773862 | SERPINC1 | c.1014G>T (p.Glu338Asp) c.559+2173G>T (n.559+2173G>T) c.870G>T (p.Glu290Asp) c.1137G>T (p.Glu379Asp) c.1095G>T (p.Glu365Asp) c.993G>T (p.Glu331Asp) c.957G>T (p.Glu319Asp) c.798G>T (p.Glu266Asp) | |
1 | g.173909691C= | CA1207936954 | SERPINC1 | c.1014G= (p.Glu338=) c.559+2173G= (n.559+2173G=) c.870G= (p.Glu290=) c.1137G= (p.Glu379=) c.1095G= (p.Glu365=) c.993G= (p.Glu331=) c.957G= (p.Glu319=) c.798G= (p.Glu266=) | |
1 | g.173909691C>G | CA343773864 | SERPINC1 | c.1014G>C (p.Glu338Asp) c.559+2173G>C (n.559+2173G>C) c.870G>C (p.Glu290Asp) c.1137G>C (p.Glu379Asp) c.1095G>C (p.Glu365Asp) c.993G>C (p.Glu331Asp) c.957G>C (p.Glu319Asp) c.798G>C (p.Glu266Asp) | |
1 | g.173909691C>T | CA421942921 | SERPINC1 | c.1014G>A (p.Glu338=) c.559+2173G>A (n.559+2173G>A) c.870G>A (p.Glu290=) c.1137G>A (p.Glu379=) c.1095G>A (p.Glu365=) c.993G>A (p.Glu331=) c.957G>A (p.Glu319=) c.798G>A (p.Glu266=) | dbSNP gnomAD v4 |
1 | g.173909692T>A | CA343773866 | SERPINC1 | c.1013A>T (p.Glu338Val) c.559+2172A>T (n.559+2172A>T) c.869A>T (p.Glu290Val) c.1136A>T (p.Glu379Val) c.1094A>T (p.Glu365Val) c.992A>T (p.Glu331Val) c.956A>T (p.Glu319Val) c.797A>T (p.Glu266Val) | |
1 | g.173909692T>C | CA343773870 | SERPINC1 | c.1013A>G (p.Glu338Gly) c.559+2172A>G (n.559+2172A>G) c.869A>G (p.Glu290Gly) c.1136A>G (p.Glu379Gly) c.1094A>G (p.Glu365Gly) c.992A>G (p.Glu331Gly) c.956A>G (p.Glu319Gly) c.797A>G (p.Glu266Gly) | |
1 | g.173909692T>G | CA343773868 | SERPINC1 | c.1013A>C (p.Glu338Ala) c.559+2172A>C (n.559+2172A>C) c.869A>C (p.Glu290Ala) c.1136A>C (p.Glu379Ala) c.1094A>C (p.Glu365Ala) c.992A>C (p.Glu331Ala) c.956A>C (p.Glu319Ala) c.797A>C (p.Glu266Ala) | |
1 | g.173909693C>A | CA343773872 | SERPINC1 | c.1012G>T (p.Glu338Ter) c.559+2171G>T (n.559+2171G>T) c.868G>T (p.Glu290Ter) c.1135G>T (p.Glu379Ter) c.1093G>T (p.Glu365Ter) c.991G>T (p.Glu331Ter) c.955G>T (p.Glu319Ter) c.796G>T (p.Glu266Ter) | |
1 | g.173909693C>G | CA343773874 | SERPINC1 | c.1012G>C (p.Glu338Gln) c.559+2171G>C (n.559+2171G>C) c.868G>C (p.Glu290Gln) c.1135G>C (p.Glu379Gln) c.1093G>C (p.Glu365Gln) c.991G>C (p.Glu331Gln) c.955G>C (p.Glu319Gln) c.796G>C (p.Glu266Gln) | |
1 | g.173909693C>T | CA343773876 | SERPINC1 | c.1012G>A (p.Glu338Lys) c.559+2171G>A (n.559+2171G>A) c.868G>A (p.Glu290Lys) c.1135G>A (p.Glu379Lys) c.1093G>A (p.Glu365Lys) c.991G>A (p.Glu331Lys) c.955G>A (p.Glu319Lys) c.796G>A (p.Glu266Lys) | |
1 | g.173909694T>A | CA343773877 | SERPINC1 | c.1011A>T (p.Gln337His) c.559+2170A>T (n.559+2170A>T) c.867A>T (p.Gln289His) c.1134A>T (p.Gln378His) c.1092A>T (p.Gln364His) c.990A>T (p.Gln330His) c.954A>T (p.Gln318His) c.795A>T (p.Gln265His) | dbSNP |
1 | g.173909694T>C | CA1251296 | SERPINC1 | c.1011A>G (p.Gln337=) c.559+2170A>G (n.559+2170A>G) c.867A>G (p.Gln289=) c.1134A>G (p.Gln378=) c.1092A>G (p.Gln364=) c.990A>G (p.Gln330=) c.954A>G (p.Gln318=) c.795A>G (p.Gln265=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909694T>G | CA343773879 | SERPINC1 | c.1011A>C (p.Gln337His) c.559+2170A>C (n.559+2170A>C) c.867A>C (p.Gln289His) c.1134A>C (p.Gln378His) c.1092A>C (p.Gln364His) c.990A>C (p.Gln330His) c.954A>C (p.Gln318His) c.795A>C (p.Gln265His) | gnomAD v4 |
1 | g.173909694T= | CA1139773038 | SERPINC1 | c.1011A= (p.Gln337=) c.559+2170A= (n.559+2170A=) c.867A= (p.Gln289=) c.1134A= (p.Gln378=) c.1092A= (p.Gln364=) c.990A= (p.Gln330=) c.954A= (p.Gln318=) c.795A= (p.Gln265=) | |
1 | g.173909695T>A | CA343773881 | SERPINC1 | c.1010A>T (p.Gln337Leu) c.559+2169A>T (n.559+2169A>T) c.866A>T (p.Gln289Leu) c.1133A>T (p.Gln378Leu) c.1091A>T (p.Gln364Leu) c.989A>T (p.Gln330Leu) c.953A>T (p.Gln318Leu) c.794A>T (p.Gln265Leu) | |
1 | g.173909695T>C | CA343773883 | SERPINC1 | c.1010A>G (p.Gln337Arg) c.559+2169A>G (n.559+2169A>G) c.866A>G (p.Gln289Arg) c.1133A>G (p.Gln378Arg) c.1091A>G (p.Gln364Arg) c.989A>G (p.Gln330Arg) c.953A>G (p.Gln318Arg) c.794A>G (p.Gln265Arg) | |
1 | g.173909695T>G | CA343773884 | SERPINC1 | c.1010A>C (p.Gln337Pro) c.559+2169A>C (n.559+2169A>C) c.866A>C (p.Gln289Pro) c.1133A>C (p.Gln378Pro) c.1091A>C (p.Gln364Pro) c.989A>C (p.Gln330Pro) c.953A>C (p.Gln318Pro) c.794A>C (p.Gln265Pro) | |
1 | g.173909696G>A | CA343773887 | SERPINC1 | c.1009C>T (p.Gln337Ter) c.559+2168C>T (n.559+2168C>T) c.865C>T (p.Gln289Ter) c.1132C>T (p.Gln378Ter) c.1090C>T (p.Gln364Ter) c.988C>T (p.Gln330Ter) c.952C>T (p.Gln318Ter) c.793C>T (p.Gln265Ter) | ClinVar |
1 | g.173909696G>C | CA343773888 | SERPINC1 | c.1009C>G (p.Gln337Glu) c.559+2168C>G (n.559+2168C>G) c.865C>G (p.Gln289Glu) c.1132C>G (p.Gln378Glu) c.1090C>G (p.Gln364Glu) c.988C>G (p.Gln330Glu) c.952C>G (p.Gln318Glu) c.793C>G (p.Gln265Glu) | |
1 | g.173909696G>T | CA343773890 | SERPINC1 | c.1009C>A (p.Gln337Lys) c.559+2168C>A (n.559+2168C>A) c.865C>A (p.Gln289Lys) c.1132C>A (p.Gln378Lys) c.1090C>A (p.Gln364Lys) c.988C>A (p.Gln330Lys) c.952C>A (p.Gln318Lys) c.793C>A (p.Gln265Lys) | |
1 | g.173909697del | CA2573953230 | SERPINC1 | c.1008del (p.Gln337LysfsTer10) c.559+2167del (n.559+2167del) c.864del (p.Gln289LysfsTer10) c.1131del (p.Gln378LysfsTer10) c.1089del (p.Gln364LysfsTer10) c.987del (p.Gln330LysfsTer10) c.951del (p.Gln318LysfsTer10) c.792del (p.Gln265LysfsTer10) | |
1 | g.173909697C>A | CA421942923 | SERPINC1 | c.1008G>T (p.Leu336=) c.559+2167G>T (n.559+2167G>T) c.864G>T (p.Leu288=) c.1131G>T (p.Leu377=) c.1089G>T (p.Leu363=) c.987G>T (p.Leu329=) c.951G>T (p.Leu317=) c.792G>T (p.Leu264=) | gnomAD v4 |
1 | g.173909697C= | CA1149067844 | SERPINC1 | c.1008G= (p.Leu336=) c.559+2167G= (n.559+2167G=) c.864G= (p.Leu288=) c.1131G= (p.Leu377=) c.1089G= (p.Leu363=) c.987G= (p.Leu329=) c.951G= (p.Leu317=) c.792G= (p.Leu264=) | |
1 | g.173909697C>G | CA1251297 | SERPINC1 | c.1008G>C (p.Leu336=) c.559+2167G>C (n.559+2167G>C) c.864G>C (p.Leu288=) c.1131G>C (p.Leu377=) c.1089G>C (p.Leu363=) c.987G>C (p.Leu329=) c.951G>C (p.Leu317=) c.792G>C (p.Leu264=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909697C>T | CA421942924 | SERPINC1 | c.1008G>A (p.Leu336=) c.559+2167G>A (n.559+2167G>A) c.864G>A (p.Leu288=) c.1131G>A (p.Leu377=) c.1089G>A (p.Leu363=) c.987G>A (p.Leu329=) c.951G>A (p.Leu317=) c.792G>A (p.Leu264=) | |
1 | g.173909698A>C | CA343773896 | SERPINC1 | c.1007T>G (p.Leu336Arg) c.559+2166T>G (n.559+2166T>G) c.863T>G (p.Leu288Arg) c.1130T>G (p.Leu377Arg) c.1088T>G (p.Leu363Arg) c.986T>G (p.Leu329Arg) c.950T>G (p.Leu317Arg) c.791T>G (p.Leu264Arg) | COSMIC |
1 | g.173909698A>G | CA343773892 | SERPINC1 | c.1007T>C (p.Leu336Pro) c.559+2166T>C (n.559+2166T>C) c.863T>C (p.Leu288Pro) c.1130T>C (p.Leu377Pro) c.1088T>C (p.Leu363Pro) c.986T>C (p.Leu329Pro) c.950T>C (p.Leu317Pro) c.791T>C (p.Leu264Pro) | ClinVar |
1 | g.173909698A>T | CA343773894 | SERPINC1 | c.1007T>A (p.Leu336Gln) c.559+2166T>A (n.559+2166T>A) c.863T>A (p.Leu288Gln) c.1130T>A (p.Leu377Gln) c.1088T>A (p.Leu363Gln) c.986T>A (p.Leu329Gln) c.950T>A (p.Leu317Gln) c.791T>A (p.Leu264Gln) | |
1 | g.173909699G>A | CA421942925 | SERPINC1 | c.1006C>T (p.Leu336=) c.559+2165C>T (n.559+2165C>T) c.862C>T (p.Leu288=) c.1129C>T (p.Leu377=) c.1087C>T (p.Leu363=) c.985C>T (p.Leu329=) c.949C>T (p.Leu317=) c.790C>T (p.Leu264=) | |
1 | g.173909699G>C | CA343773898 | SERPINC1 | c.1006C>G (p.Leu336Val) c.559+2165C>G (n.559+2165C>G) c.862C>G (p.Leu288Val) c.1129C>G (p.Leu377Val) c.1087C>G (p.Leu363Val) c.985C>G (p.Leu329Val) c.949C>G (p.Leu317Val) c.790C>G (p.Leu264Val) | |
1 | g.173909699G>T | CA343773899 | SERPINC1 | c.1006C>A (p.Leu336Met) c.559+2165C>A (n.559+2165C>A) c.862C>A (p.Leu288Met) c.1129C>A (p.Leu377Met) c.1087C>A (p.Leu363Met) c.985C>A (p.Leu329Met) c.949C>A (p.Leu317Met) c.790C>A (p.Leu264Met) | |
1 | g.173909700C>A | CA421942928 | SERPINC1 | c.1005G>T (p.Val335=) c.559+2164G>T (n.559+2164G>T) c.861G>T (p.Val287=) c.1128G>T (p.Val376=) c.1086G>T (p.Val362=) c.984G>T (p.Val328=) c.948G>T (p.Val316=) c.789G>T (p.Val263=) | |
1 | g.173909700C= | CA1143273896 | SERPINC1 | c.1005G= (p.Val335=) c.559+2164G= (n.559+2164G=) c.861G= (p.Val287=) c.1128G= (p.Val376=) c.1086G= (p.Val362=) c.984G= (p.Val328=) c.948G= (p.Val316=) c.789G= (p.Val263=) | |
1 | g.173909700C>G | CA421942927 | SERPINC1 | c.1005G>C (p.Val335=) c.559+2164G>C (n.559+2164G>C) c.861G>C (p.Val287=) c.1128G>C (p.Val376=) c.1086G>C (p.Val362=) c.984G>C (p.Val328=) c.948G>C (p.Val316=) c.789G>C (p.Val263=) | |
1 | g.173909700C>T | CA1251298 | SERPINC1 | c.1005G>A (p.Val335=) c.559+2164G>A (n.559+2164G>A) c.861G>A (p.Val287=) c.1128G>A (p.Val376=) c.1086G>A (p.Val362=) c.984G>A (p.Val328=) c.948G>A (p.Val316=) c.789G>A (p.Val263=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909701A>C | CA343773903 | SERPINC1 | c.1004T>G (p.Val335Gly) c.559+2163T>G (n.559+2163T>G) c.860T>G (p.Val287Gly) c.1127T>G (p.Val376Gly) c.1085T>G (p.Val362Gly) c.983T>G (p.Val328Gly) c.947T>G (p.Val316Gly) c.788T>G (p.Val263Gly) | |
1 | g.173909701A>G | CA343773904 | SERPINC1 | c.1004T>C (p.Val335Ala) c.559+2163T>C (n.559+2163T>C) c.860T>C (p.Val287Ala) c.1127T>C (p.Val376Ala) c.1085T>C (p.Val362Ala) c.983T>C (p.Val328Ala) c.947T>C (p.Val316Ala) c.788T>C (p.Val263Ala) | |
1 | g.173909701A>T | CA343773906 | SERPINC1 | c.1004T>A (p.Val335Glu) c.559+2163T>A (n.559+2163T>A) c.860T>A (p.Val287Glu) c.1127T>A (p.Val376Glu) c.1085T>A (p.Val362Glu) c.983T>A (p.Val328Glu) c.947T>A (p.Val316Glu) c.788T>A (p.Val263Glu) | |
1 | g.173909702C>A | CA343773908 | SERPINC1 | c.1003G>T (p.Val335Leu) c.559+2162G>T (n.559+2162G>T) c.859G>T (p.Val287Leu) c.1126G>T (p.Val376Leu) c.1084G>T (p.Val362Leu) c.982G>T (p.Val328Leu) c.946G>T (p.Val316Leu) c.787G>T (p.Val263Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909702C= | CA1207936955 | SERPINC1 | c.1003G= (p.Val335=) c.559+2162G= (n.559+2162G=) c.859G= (p.Val287=) c.1126G= (p.Val376=) c.1084G= (p.Val362=) c.982G= (p.Val328=) c.946G= (p.Val316=) c.787G= (p.Val263=) | |
1 | g.173909702C>G | CA343773910 | SERPINC1 | c.1003G>C (p.Val335Leu) c.559+2162G>C (n.559+2162G>C) c.859G>C (p.Val287Leu) c.1126G>C (p.Val376Leu) c.1084G>C (p.Val362Leu) c.982G>C (p.Val328Leu) c.946G>C (p.Val316Leu) c.787G>C (p.Val263Leu) | dbSNP |
1 | g.173909702C>T | CA343773912 | SERPINC1 | c.1003G>A (p.Val335Met) c.559+2162G>A (n.559+2162G>A) c.859G>A (p.Val287Met) c.1126G>A (p.Val376Met) c.1084G>A (p.Val362Met) c.982G>A (p.Val328Met) c.946G>A (p.Val316Met) c.787G>A (p.Val263Met) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.173909703del | CA2017997726 | SERPINC1 | c.1003del (p.Val335CysfsTer12) c.559+2162del (n.559+2162del) c.859del (p.Val287CysfsTer12) c.1126del (p.Val376CysfsTer12) c.1084del (p.Val362CysfsTer12) c.982del (p.Val328CysfsTer12) c.946del (p.Val316CysfsTer12) c.787del (p.Val263CysfsTer12) | ClinVar |
1 | g.173909703C>A | CA343773914 | SERPINC1 | c.1002G>T (p.Glu334Asp) c.559+2161G>T (n.559+2161G>T) c.858G>T (p.Glu286Asp) c.1125G>T (p.Glu375Asp) c.1083G>T (p.Glu361Asp) c.981G>T (p.Glu327Asp) c.945G>T (p.Glu315Asp) c.786G>T (p.Glu262Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909703C= | CA1207936956 | SERPINC1 | c.1002G= (p.Glu334=) c.559+2161G= (n.559+2161G=) c.858G= (p.Glu286=) c.1125G= (p.Glu375=) c.1083G= (p.Glu361=) c.981G= (p.Glu327=) c.945G= (p.Glu315=) c.786G= (p.Glu262=) | |
1 | g.173909703C>G | CA343773916 | SERPINC1 | c.1002G>C (p.Glu334Asp) c.559+2161G>C (n.559+2161G>C) c.858G>C (p.Glu286Asp) c.1125G>C (p.Glu375Asp) c.1083G>C (p.Glu361Asp) c.981G>C (p.Glu327Asp) c.945G>C (p.Glu315Asp) c.786G>C (p.Glu262Asp) | |
1 | g.173909703C>T | CA421942929 | SERPINC1 | c.1002G>A (p.Glu334=) c.559+2161G>A (n.559+2161G>A) c.858G>A (p.Glu286=) c.1125G>A (p.Glu375=) c.1083G>A (p.Glu361=) c.981G>A (p.Glu327=) c.945G>A (p.Glu315=) c.786G>A (p.Glu262=) | |
1 | g.173909704T>A | CA343773919 | SERPINC1 | c.1001A>T (p.Glu334Val) c.559+2160A>T (n.559+2160A>T) c.857A>T (p.Glu286Val) c.1124A>T (p.Glu375Val) c.1082A>T (p.Glu361Val) c.980A>T (p.Glu327Val) c.944A>T (p.Glu315Val) c.785A>T (p.Glu262Val) | |
1 | g.173909704T>C | CA343773920 | SERPINC1 | c.1001A>G (p.Glu334Gly) c.559+2160A>G (n.559+2160A>G) c.857A>G (p.Glu286Gly) c.1124A>G (p.Glu375Gly) c.1082A>G (p.Glu361Gly) c.980A>G (p.Glu327Gly) c.944A>G (p.Glu315Gly) c.785A>G (p.Glu262Gly) | |
1 | g.173909704T>G | CA343773918 | SERPINC1 | c.1001A>C (p.Glu334Ala) c.559+2160A>C (n.559+2160A>C) c.857A>C (p.Glu286Ala) c.1124A>C (p.Glu375Ala) c.1082A>C (p.Glu361Ala) c.980A>C (p.Glu327Ala) c.944A>C (p.Glu315Ala) c.785A>C (p.Glu262Ala) | |
1 | g.173909705C>A | CA343773922 | SERPINC1 | c.1000G>T (p.Glu334Ter) c.559+2159G>T (n.559+2159G>T) c.856G>T (p.Glu286Ter) c.1123G>T (p.Glu375Ter) c.1081G>T (p.Glu361Ter) c.979G>T (p.Glu327Ter) c.943G>T (p.Glu315Ter) c.784G>T (p.Glu262Ter) | |
1 | g.173909705C>G | CA343773923 | SERPINC1 | c.1000G>C (p.Glu334Gln) c.559+2159G>C (n.559+2159G>C) c.856G>C (p.Glu286Gln) c.1123G>C (p.Glu375Gln) c.1081G>C (p.Glu361Gln) c.979G>C (p.Glu327Gln) c.943G>C (p.Glu315Gln) c.784G>C (p.Glu262Gln) | |
1 | g.173909705C>T | CA343773925 | SERPINC1 | c.1000G>A (p.Glu334Lys) c.559+2159G>A (n.559+2159G>A) c.856G>A (p.Glu286Lys) c.1123G>A (p.Glu375Lys) c.1081G>A (p.Glu361Lys) c.979G>A (p.Glu327Lys) c.943G>A (p.Glu315Lys) c.784G>A (p.Glu262Lys) | ClinVar gnomAD v4 |
1 | g.173909706T>A | CA421942931 | SERPINC1 | c.999A>T (p.Pro333=) c.559+2158A>T (n.559+2158A>T) c.855A>T (p.Pro285=) c.1122A>T (p.Pro374=) c.1080A>T (p.Pro360=) c.978A>T (p.Pro326=) c.942A>T (p.Pro314=) c.783A>T (p.Pro261=) | |
1 | g.173909706T>C | CA421942933 | SERPINC1 | c.999A>G (p.Pro333=) c.559+2158A>G (n.559+2158A>G) c.855A>G (p.Pro285=) c.1122A>G (p.Pro374=) c.1080A>G (p.Pro360=) c.978A>G (p.Pro326=) c.942A>G (p.Pro314=) c.783A>G (p.Pro261=) | |
1 | g.173909706T>G | CA421942932 | SERPINC1 | c.999A>C (p.Pro333=) c.559+2158A>C (n.559+2158A>C) c.855A>C (p.Pro285=) c.1122A>C (p.Pro374=) c.1080A>C (p.Pro360=) c.978A>C (p.Pro326=) c.942A>C (p.Pro314=) c.783A>C (p.Pro261=) | |
1 | g.173909707G>A | CA343773927 | SERPINC1 | c.998C>T (p.Pro333Leu) c.559+2157C>T (n.559+2157C>T) c.854C>T (p.Pro285Leu) c.1121C>T (p.Pro374Leu) c.1079C>T (p.Pro360Leu) c.977C>T (p.Pro326Leu) c.941C>T (p.Pro314Leu) c.782C>T (p.Pro261Leu) | |
1 | g.173909707G>C | CA343773929 | SERPINC1 | c.998C>G (p.Pro333Arg) c.559+2157C>G (n.559+2157C>G) c.854C>G (p.Pro285Arg) c.1121C>G (p.Pro374Arg) c.1079C>G (p.Pro360Arg) c.977C>G (p.Pro326Arg) c.941C>G (p.Pro314Arg) c.782C>G (p.Pro261Arg) | |
1 | g.173909707G>T | CA343773930 | SERPINC1 | c.998C>A (p.Pro333Gln) c.559+2157C>A (n.559+2157C>A) c.854C>A (p.Pro285Gln) c.1121C>A (p.Pro374Gln) c.1079C>A (p.Pro360Gln) c.977C>A (p.Pro326Gln) c.941C>A (p.Pro314Gln) c.782C>A (p.Pro261Gln) | |
1 | g.173909708G>A | CA343773933 | SERPINC1 | c.997C>T (p.Pro333Ser) c.559+2156C>T (n.559+2156C>T) c.853C>T (p.Pro285Ser) c.1120C>T (p.Pro374Ser) c.1078C>T (p.Pro360Ser) c.976C>T (p.Pro326Ser) c.940C>T (p.Pro314Ser) c.781C>T (p.Pro261Ser) | |
1 | g.173909708G>C | CA343773937 | SERPINC1 | c.997C>G (p.Pro333Ala) c.559+2156C>G (n.559+2156C>G) c.853C>G (p.Pro285Ala) c.1120C>G (p.Pro374Ala) c.1078C>G (p.Pro360Ala) c.976C>G (p.Pro326Ala) c.940C>G (p.Pro314Ala) c.781C>G (p.Pro261Ala) | |
1 | g.173909708G>T | CA343773935 | SERPINC1 | c.997C>A (p.Pro333Thr) c.559+2156C>A (n.559+2156C>A) c.853C>A (p.Pro285Thr) c.1120C>A (p.Pro374Thr) c.1078C>A (p.Pro360Thr) c.976C>A (p.Pro326Thr) c.940C>A (p.Pro314Thr) c.781C>A (p.Pro261Thr) | |
1 | g.173909709G>A | CA1251299 | SERPINC1 | c.996C>T (p.Thr332=) c.559+2155C>T (n.559+2155C>T) c.852C>T (p.Thr284=) c.1119C>T (p.Thr373=) c.1077C>T (p.Thr359=) c.975C>T (p.Thr325=) c.939C>T (p.Thr313=) c.780C>T (p.Thr260=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.173909709G>C | CA421942935 | SERPINC1 | c.996C>G (p.Thr332=) c.559+2155C>G (n.559+2155C>G) c.852C>G (p.Thr284=) c.1119C>G (p.Thr373=) c.1077C>G (p.Thr359=) c.975C>G (p.Thr325=) c.939C>G (p.Thr313=) c.780C>G (p.Thr260=) | |
1 | g.173909709G= | CA1207936957 | SERPINC1 | c.996C= (p.Thr332=) c.559+2155C= (n.559+2155C=) c.852C= (p.Thr284=) c.1119C= (p.Thr373=) c.1077C= (p.Thr359=) c.975C= (p.Thr325=) c.939C= (p.Thr313=) c.780C= (p.Thr260=) | |
1 | g.173909709G>T | CA421942936 | SERPINC1 | c.996C>A (p.Thr332=) c.559+2155C>A (n.559+2155C>A) c.852C>A (p.Thr284=) c.1119C>A (p.Thr373=) c.1077C>A (p.Thr359=) c.975C>A (p.Thr325=) c.939C>A (p.Thr313=) c.780C>A (p.Thr260=) | gnomAD v4 |
1 | g.173909710G>A | CA349809 | SERPINC1 | c.995C>T (p.Thr332Ile) c.559+2154C>T (n.559+2154C>T) c.851C>T (p.Thr284Ile) c.1118C>T (p.Thr373Ile) c.1076C>T (p.Thr359Ile) c.974C>T (p.Thr325Ile) c.938C>T (p.Thr313Ile) c.779C>T (p.Thr260Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909710G>C | CA343773941 | SERPINC1 | c.995C>G (p.Thr332Ser) c.559+2154C>G (n.559+2154C>G) c.851C>G (p.Thr284Ser) c.1118C>G (p.Thr373Ser) c.1076C>G (p.Thr359Ser) c.974C>G (p.Thr325Ser) c.938C>G (p.Thr313Ser) c.779C>G (p.Thr260Ser) | |
1 | g.173909710G= | CA1147305941 | SERPINC1 | c.995C= (p.Thr332=) c.559+2154C= (n.559+2154C=) c.851C= (p.Thr284=) c.1118C= (p.Thr373=) c.1076C= (p.Thr359=) c.974C= (p.Thr325=) c.938C= (p.Thr313=) c.779C= (p.Thr260=) | |
1 | g.173909710G>T | CA343773943 | SERPINC1 | c.995C>A (p.Thr332Asn) c.559+2154C>A (n.559+2154C>A) c.851C>A (p.Thr284Asn) c.1118C>A (p.Thr373Asn) c.1076C>A (p.Thr359Asn) c.974C>A (p.Thr325Asn) c.938C>A (p.Thr313Asn) c.779C>A (p.Thr260Asn) | |
1 | g.173909711T>A | CA343773945 | SERPINC1 | c.994A>T (p.Thr332Ser) c.559+2153A>T (n.559+2153A>T) c.850A>T (p.Thr284Ser) c.1117A>T (p.Thr373Ser) c.1075A>T (p.Thr359Ser) c.973A>T (p.Thr325Ser) c.937A>T (p.Thr313Ser) c.778A>T (p.Thr260Ser) | |
1 | g.173909711T>C | CA343773949 | SERPINC1 | c.994A>G (p.Thr332Ala) c.559+2153A>G (n.559+2153A>G) c.850A>G (p.Thr284Ala) c.1117A>G (p.Thr373Ala) c.1075A>G (p.Thr359Ala) c.973A>G (p.Thr325Ala) c.937A>G (p.Thr313Ala) c.778A>G (p.Thr260Ala) | |
1 | g.173909711T>G | CA343773947 | SERPINC1 | c.994A>C (p.Thr332Pro) c.559+2153A>C (n.559+2153A>C) c.850A>C (p.Thr284Pro) c.1117A>C (p.Thr373Pro) c.1075A>C (p.Thr359Pro) c.973A>C (p.Thr325Pro) c.937A>C (p.Thr313Pro) c.778A>C (p.Thr260Pro) | |
1 | g.173909712del | CA2580612098 | SERPINC1 | c.993del (p.Thr332ProfsTer15) c.559+2152del (n.559+2152del) c.849del (p.Thr284ProfsTer15) c.1116del (p.Thr373ProfsTer15) c.1074del (p.Thr359ProfsTer15) c.972del (p.Thr325ProfsTer15) c.936del (p.Thr313ProfsTer15) c.777del (p.Thr260ProfsTer15) | |
1 | g.173909712G>A | CA421942941 | SERPINC1 | c.993C>T (p.Leu331=) c.559+2152C>T (n.559+2152C>T) c.849C>T (p.Leu283=) c.1116C>T (p.Leu372=) c.1074C>T (p.Leu358=) c.972C>T (p.Leu324=) c.936C>T (p.Leu312=) c.777C>T (p.Leu259=) | gnomAD v4 |
1 | g.173909712G>C | CA421942943 | SERPINC1 | c.993C>G (p.Leu331=) c.559+2152C>G (n.559+2152C>G) c.849C>G (p.Leu283=) c.1116C>G (p.Leu372=) c.1074C>G (p.Leu358=) c.972C>G (p.Leu324=) c.936C>G (p.Leu312=) c.777C>G (p.Leu259=) | dbSNP |
1 | g.173909712G>T | CA421942944 | SERPINC1 | c.993C>A (p.Leu331=) c.559+2152C>A (n.559+2152C>A) c.849C>A (p.Leu283=) c.1116C>A (p.Leu372=) c.1074C>A (p.Leu358=) c.972C>A (p.Leu324=) c.936C>A (p.Leu312=) c.777C>A (p.Leu259=) | |
1 | g.173909713del | CA2586964404 | SERPINC1 | c.992del (p.Leu331ProfsTer16) c.559+2151del (n.559+2151del) c.848del (p.Leu283ProfsTer16) c.1115del (p.Leu372ProfsTer16) c.1073del (p.Leu358ProfsTer16) c.971del (p.Leu324ProfsTer16) c.935del (p.Leu312ProfsTer16) c.776del (p.Leu259ProfsTer16) | |
1 | g.173909713A>C | CA343773951 | SERPINC1 | c.992T>G (p.Leu331Arg) c.559+2151T>G (n.559+2151T>G) c.848T>G (p.Leu283Arg) c.1115T>G (p.Leu372Arg) c.1073T>G (p.Leu358Arg) c.971T>G (p.Leu324Arg) c.935T>G (p.Leu312Arg) c.776T>G (p.Leu259Arg) | |
1 | g.173909713A>G | CA343773954 | SERPINC1 | c.992T>C (p.Leu331Pro) c.559+2151T>C (n.559+2151T>C) c.848T>C (p.Leu283Pro) c.1115T>C (p.Leu372Pro) c.1073T>C (p.Leu358Pro) c.971T>C (p.Leu324Pro) c.935T>C (p.Leu312Pro) c.776T>C (p.Leu259Pro) | |
1 | g.173909713A>T | CA343773953 | SERPINC1 | c.992T>A (p.Leu331His) c.559+2151T>A (n.559+2151T>A) c.848T>A (p.Leu283His) c.1115T>A (p.Leu372His) c.1073T>A (p.Leu358His) c.971T>A (p.Leu324His) c.935T>A (p.Leu312His) c.776T>A (p.Leu259His) | |
1 | g.173909714G>A | CA343773956 | SERPINC1 | c.991C>T (p.Leu331Phe) c.559+2150C>T (n.559+2150C>T) c.847C>T (p.Leu283Phe) c.1114C>T (p.Leu372Phe) c.1072C>T (p.Leu358Phe) c.970C>T (p.Leu324Phe) c.934C>T (p.Leu312Phe) c.775C>T (p.Leu259Phe) | gnomAD v4 |
1 | g.173909714G>C | CA343773957 | SERPINC1 | c.991C>G (p.Leu331Val) c.559+2150C>G (n.559+2150C>G) c.847C>G (p.Leu283Val) c.1114C>G (p.Leu372Val) c.1072C>G (p.Leu358Val) c.970C>G (p.Leu324Val) c.934C>G (p.Leu312Val) c.775C>G (p.Leu259Val) | dbSNP |
1 | g.173909714G= | CA1207936958 | SERPINC1 | c.991C= (p.Leu331=) c.559+2150C= (n.559+2150C=) c.847C= (p.Leu283=) c.1114C= (p.Leu372=) c.1072C= (p.Leu358=) c.970C= (p.Leu324=) c.934C= (p.Leu312=) c.775C= (p.Leu259=) | |
1 | g.173909714G>T | CA343773958 | SERPINC1 | c.991C>A (p.Leu331Ile) c.559+2150C>A (n.559+2150C>A) c.847C>A (p.Leu283Ile) c.1114C>A (p.Leu372Ile) c.1072C>A (p.Leu358Ile) c.970C>A (p.Leu324Ile) c.934C>A (p.Leu312Ile) c.775C>A (p.Leu259Ile) | |
1 | g.173909715T>A | CA343773959 | SERPINC1 | c.990A>T (p.Glu330Asp) c.559+2149A>T (n.559+2149A>T) c.846A>T (p.Glu282Asp) c.1113A>T (p.Glu371Asp) c.1071A>T (p.Glu357Asp) c.969A>T (p.Glu323Asp) c.933A>T (p.Glu311Asp) c.774A>T (p.Glu258Asp) | |
1 | g.173909715T>C | CA421942949 | SERPINC1 | c.990A>G (p.Glu330=) c.559+2149A>G (n.559+2149A>G) c.846A>G (p.Glu282=) c.1113A>G (p.Glu371=) c.1071A>G (p.Glu357=) c.969A>G (p.Glu323=) c.933A>G (p.Glu311=) c.774A>G (p.Glu258=) | dbSNP gnomAD v4 COSMIC |
1 | g.173909715T>G | CA343773961 | SERPINC1 | c.990A>C (p.Glu330Asp) c.559+2149A>C (n.559+2149A>C) c.846A>C (p.Glu282Asp) c.1113A>C (p.Glu371Asp) c.1071A>C (p.Glu357Asp) c.969A>C (p.Glu323Asp) c.933A>C (p.Glu311Asp) c.774A>C (p.Glu258Asp) | |
1 | g.173909715T= | CA1207936959 | SERPINC1 | c.990A= (p.Glu330=) c.559+2149A= (n.559+2149A=) c.846A= (p.Glu282=) c.1113A= (p.Glu371=) c.1071A= (p.Glu357=) c.969A= (p.Glu323=) c.933A= (p.Glu311=) c.774A= (p.Glu258=) | |
1 | g.173909716T>A | CA343773963 | SERPINC1 | c.989A>T (p.Glu330Val) c.559+2148A>T (n.559+2148A>T) c.845A>T (p.Glu282Val) c.1112A>T (p.Glu371Val) c.1070A>T (p.Glu357Val) c.968A>T (p.Glu323Val) c.932A>T (p.Glu311Val) c.773A>T (p.Glu258Val) | |
1 | g.173909716T>C | CA343773965 | SERPINC1 | c.989A>G (p.Glu330Gly) c.559+2148A>G (n.559+2148A>G) c.845A>G (p.Glu282Gly) c.1112A>G (p.Glu371Gly) c.1070A>G (p.Glu357Gly) c.968A>G (p.Glu323Gly) c.932A>G (p.Glu311Gly) c.773A>G (p.Glu258Gly) | |
1 | g.173909716T>G | CA343773966 | SERPINC1 | c.989A>C (p.Glu330Ala) c.559+2148A>C (n.559+2148A>C) c.845A>C (p.Glu282Ala) c.1112A>C (p.Glu371Ala) c.1070A>C (p.Glu357Ala) c.968A>C (p.Glu323Ala) c.932A>C (p.Glu311Ala) c.773A>C (p.Glu258Ala) | |
1 | g.173909717C>A | CA343773968 | SERPINC1 | c.988G>T (p.Glu330Ter) c.559+2147G>T (n.559+2147G>T) c.844G>T (p.Glu282Ter) c.1111G>T (p.Glu371Ter) c.1069G>T (p.Glu357Ter) c.967G>T (p.Glu323Ter) c.931G>T (p.Glu311Ter) c.772G>T (p.Glu258Ter) | |
1 | g.173909717C>G | CA343773969 | SERPINC1 | c.988G>C (p.Glu330Gln) c.559+2147G>C (n.559+2147G>C) c.844G>C (p.Glu282Gln) c.1111G>C (p.Glu371Gln) c.1069G>C (p.Glu357Gln) c.967G>C (p.Glu323Gln) c.931G>C (p.Glu311Gln) c.772G>C (p.Glu258Gln) | |
1 | g.173909717C>T | CA343773971 | SERPINC1 | c.988G>A (p.Glu330Lys) c.559+2147G>A (n.559+2147G>A) c.844G>A (p.Glu282Lys) c.1111G>A (p.Glu371Lys) c.1069G>A (p.Glu357Lys) c.967G>A (p.Glu323Lys) c.931G>A (p.Glu311Lys) c.772G>A (p.Glu258Lys) | COSMIC |
1 | g.173909718C>A | CA343773973 | SERPINC1 | c.987G>T (p.Lys329Asn) c.559+2146G>T (n.559+2146G>T) c.843G>T (p.Lys281Asn) c.1110G>T (p.Lys370Asn) c.1068G>T (p.Lys356Asn) c.966G>T (p.Lys322Asn) c.930G>T (p.Lys310Asn) c.771G>T (p.Lys257Asn) | |
1 | g.173909718C>G | CA343773975 | SERPINC1 | c.987G>C (p.Lys329Asn) c.559+2146G>C (n.559+2146G>C) c.843G>C (p.Lys281Asn) c.1110G>C (p.Lys370Asn) c.1068G>C (p.Lys356Asn) c.966G>C (p.Lys322Asn) c.930G>C (p.Lys310Asn) c.771G>C (p.Lys257Asn) | gnomAD v4 |
1 | g.173909718C>T | CA421942956 | SERPINC1 | c.987G>A (p.Lys329=) c.559+2146G>A (n.559+2146G>A) c.843G>A (p.Lys281=) c.1110G>A (p.Lys370=) c.1068G>A (p.Lys356=) c.966G>A (p.Lys322=) c.930G>A (p.Lys310=) c.771G>A (p.Lys257=) | COSMIC |
1 | g.173909719T>A | CA343773977 | SERPINC1 | c.986A>T (p.Lys329Met) c.559+2145A>T (n.559+2145A>T) c.842A>T (p.Lys281Met) c.1109A>T (p.Lys370Met) c.1067A>T (p.Lys356Met) c.965A>T (p.Lys322Met) c.929A>T (p.Lys310Met) c.770A>T (p.Lys257Met) | |
1 | g.173909719T>C | CA343773980 | SERPINC1 | c.986A>G (p.Lys329Arg) c.559+2145A>G (n.559+2145A>G) c.842A>G (p.Lys281Arg) c.1109A>G (p.Lys370Arg) c.1067A>G (p.Lys356Arg) c.965A>G (p.Lys322Arg) c.929A>G (p.Lys310Arg) c.770A>G (p.Lys257Arg) | dbSNP gnomAD v4 |
1 | g.173909719T>G | CA343773979 | SERPINC1 | c.986A>C (p.Lys329Thr) c.559+2145A>C (n.559+2145A>C) c.842A>C (p.Lys281Thr) c.1109A>C (p.Lys370Thr) c.1067A>C (p.Lys356Thr) c.965A>C (p.Lys322Thr) c.929A>C (p.Lys310Thr) c.770A>C (p.Lys257Thr) | dbSNP gnomAD v4 |
1 | g.173909719T= | CA1207936960 | SERPINC1 | c.986A= (p.Lys329=) c.559+2145A= (n.559+2145A=) c.842A= (p.Lys281=) c.1109A= (p.Lys370=) c.1067A= (p.Lys356=) c.965A= (p.Lys322=) c.929A= (p.Lys310=) c.770A= (p.Lys257=) | |
1 | g.173909720T>A | CA343773981 | SERPINC1 | c.985A>T (p.Lys329Ter) c.559+2144A>T (n.559+2144A>T) c.841A>T (p.Lys281Ter) c.1108A>T (p.Lys370Ter) c.1066A>T (p.Lys356Ter) c.964A>T (p.Lys322Ter) c.928A>T (p.Lys310Ter) c.769A>T (p.Lys257Ter) | |
1 | g.173909720T>C | CA343773983 | SERPINC1 | c.985A>G (p.Lys329Glu) c.559+2144A>G (n.559+2144A>G) c.841A>G (p.Lys281Glu) c.1108A>G (p.Lys370Glu) c.1066A>G (p.Lys356Glu) c.964A>G (p.Lys322Glu) c.928A>G (p.Lys310Glu) c.769A>G (p.Lys257Glu) | dbSNP gnomAD v2 |
1 | g.173909720T>G | CA343773985 | SERPINC1 | c.985A>C (p.Lys329Gln) c.559+2144A>C (n.559+2144A>C) c.841A>C (p.Lys281Gln) c.1108A>C (p.Lys370Gln) c.1066A>C (p.Lys356Gln) c.964A>C (p.Lys322Gln) c.928A>C (p.Lys310Gln) c.769A>C (p.Lys257Gln) | dbSNP |
1 | g.173909720T= | CA1207936961 | SERPINC1 | c.985A= (p.Lys329=) c.559+2144A= (n.559+2144A=) c.841A= (p.Lys281=) c.1108A= (p.Lys370=) c.1066A= (p.Lys356=) c.964A= (p.Lys322=) c.928A= (p.Lys310=) c.769A= (p.Lys257=) | |
1 | g.173909721C>A | CA343773987 | SERPINC1 | c.984G>T (p.Glu328Asp) c.559+2143G>T (n.559+2143G>T) c.840G>T (p.Glu280Asp) c.1107G>T (p.Glu369Asp) c.1065G>T (p.Glu355Asp) c.963G>T (p.Glu321Asp) c.927G>T (p.Glu309Asp) c.768G>T (p.Glu256Asp) | |
1 | g.173909721C>G | CA343773989 | SERPINC1 | c.984G>C (p.Glu328Asp) c.559+2143G>C (n.559+2143G>C) c.840G>C (p.Glu280Asp) c.1107G>C (p.Glu369Asp) c.1065G>C (p.Glu355Asp) c.963G>C (p.Glu321Asp) c.927G>C (p.Glu309Asp) c.768G>C (p.Glu256Asp) | |
1 | g.173909721C>T | CA421942959 | SERPINC1 | c.984G>A (p.Glu328=) c.559+2143G>A (n.559+2143G>A) c.840G>A (p.Glu280=) c.1107G>A (p.Glu369=) c.1065G>A (p.Glu355=) c.963G>A (p.Glu321=) c.927G>A (p.Glu309=) c.768G>A (p.Glu256=) | |
1 | g.173909722T>A | CA343773991 | SERPINC1 | c.983A>T (p.Glu328Val) c.559+2142A>T (n.559+2142A>T) c.839A>T (p.Glu280Val) c.1106A>T (p.Glu369Val) c.1064A>T (p.Glu355Val) c.962A>T (p.Glu321Val) c.926A>T (p.Glu309Val) c.767A>T (p.Glu256Val) | |
1 | g.173909722T>C | CA32780315 | SERPINC1 | c.983A>G (p.Glu328Gly) c.559+2142A>G (n.559+2142A>G) c.839A>G (p.Glu280Gly) c.1106A>G (p.Glu369Gly) c.1064A>G (p.Glu355Gly) c.962A>G (p.Glu321Gly) c.926A>G (p.Glu309Gly) c.767A>G (p.Glu256Gly) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.173909722T>G | CA343773994 | SERPINC1 | c.983A>C (p.Glu328Ala) c.559+2142A>C (n.559+2142A>C) c.839A>C (p.Glu280Ala) c.1106A>C (p.Glu369Ala) c.1064A>C (p.Glu355Ala) c.962A>C (p.Glu321Ala) c.926A>C (p.Glu309Ala) c.767A>C (p.Glu256Ala) | |
1 | g.173909722T= | CA1207936962 | SERPINC1 | c.983A= (p.Glu328=) c.559+2142A= (n.559+2142A=) c.839A= (p.Glu280=) c.1106A= (p.Glu369=) c.1064A= (p.Glu355=) c.962A= (p.Glu321=) c.926A= (p.Glu309=) c.767A= (p.Glu256=) | |
1 | g.173909723C>A | CA343773996 | SERPINC1 | c.982G>T (p.Glu328Ter) c.559+2141G>T (n.559+2141G>T) c.838G>T (p.Glu280Ter) c.1105G>T (p.Glu369Ter) c.1063G>T (p.Glu355Ter) c.961G>T (p.Glu321Ter) c.925G>T (p.Glu309Ter) c.766G>T (p.Glu256Ter) | |
1 | g.173909723C= | CA1207936963 | SERPINC1 | c.982G= (p.Glu328=) c.559+2141G= (n.559+2141G=) c.838G= (p.Glu280=) c.1105G= (p.Glu369=) c.1063G= (p.Glu355=) c.961G= (p.Glu321=) c.925G= (p.Glu309=) c.766G= (p.Glu256=) | |
1 | g.173909723C>G | CA343773997 | SERPINC1 | c.982G>C (p.Glu328Gln) c.559+2141G>C (n.559+2141G>C) c.838G>C (p.Glu280Gln) c.1105G>C (p.Glu369Gln) c.1063G>C (p.Glu355Gln) c.961G>C (p.Glu321Gln) c.925G>C (p.Glu309Gln) c.766G>C (p.Glu256Gln) | dbSNP |
1 | g.173909723C>T | CA343773999 | SERPINC1 | c.982G>A (p.Glu328Lys) c.559+2141G>A (n.559+2141G>A) c.838G>A (p.Glu280Lys) c.1105G>A (p.Glu369Lys) c.1063G>A (p.Glu355Lys) c.961G>A (p.Glu321Lys) c.925G>A (p.Glu309Lys) c.766G>A (p.Glu256Lys) | |
1 | g.173909724del | CA2582342993 | SERPINC1 | c.981del (p.Glu328ArgfsTer19) c.559+2140del (n.559+2140del) c.837del (p.Glu280ArgfsTer19) c.1104del (p.Glu369ArgfsTer19) c.1062del (p.Glu355ArgfsTer19) c.960del (p.Glu321ArgfsTer19) c.924del (p.Glu309ArgfsTer19) c.765del (p.Glu256ArgfsTer19) | |
1 | g.173909724T>A | CA421942963 | SERPINC1 | c.981A>T (p.Val327=) c.559+2140A>T (n.559+2140A>T) c.837A>T (p.Val279=) c.1104A>T (p.Val368=) c.1062A>T (p.Val354=) c.960A>T (p.Val320=) c.924A>T (p.Val308=) c.765A>T (p.Val255=) | dbSNP |
1 | g.173909724T>C | CA1251300 | SERPINC1 | c.981A>G (p.Val327=) c.559+2140A>G (n.559+2140A>G) c.837A>G (p.Val279=) c.1104A>G (p.Val368=) c.1062A>G (p.Val354=) c.960A>G (p.Val320=) c.924A>G (p.Val308=) c.765A>G (p.Val255=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909724T>G | CA421942965 | SERPINC1 | c.981A>C (p.Val327=) c.559+2140A>C (n.559+2140A>C) c.837A>C (p.Val279=) c.1104A>C (p.Val368=) c.1062A>C (p.Val354=) c.960A>C (p.Val320=) c.924A>C (p.Val308=) c.765A>C (p.Val255=) | |
1 | g.173909724T= | CA1139773037 | SERPINC1 | c.981A= (p.Val327=) c.559+2140A= (n.559+2140A=) c.837A= (p.Val279=) c.1104A= (p.Val368=) c.1062A= (p.Val354=) c.960A= (p.Val320=) c.924A= (p.Val308=) c.765A= (p.Val255=) | |
1 | g.173909725A= | CA1207936964 | SERPINC1 | c.980T= (p.Val327=) c.559+2139T= (n.559+2139T=) c.836T= (p.Val279=) c.1103T= (p.Val368=) c.1061T= (p.Val354=) c.959T= (p.Val320=) c.923T= (p.Val308=) c.764T= (p.Val255=) | |
1 | g.173909725A>C | CA343774004 | SERPINC1 | c.980T>G (p.Val327Gly) c.559+2139T>G (n.559+2139T>G) c.836T>G (p.Val279Gly) c.1103T>G (p.Val368Gly) c.1061T>G (p.Val354Gly) c.959T>G (p.Val320Gly) c.923T>G (p.Val308Gly) c.764T>G (p.Val255Gly) | |
1 | g.173909725A>G | CA1251301 | SERPINC1 | c.980T>C (p.Val327Ala) c.559+2139T>C (n.559+2139T>C) c.836T>C (p.Val279Ala) c.1103T>C (p.Val368Ala) c.1061T>C (p.Val354Ala) c.959T>C (p.Val320Ala) c.923T>C (p.Val308Ala) c.764T>C (p.Val255Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909725A>T | CA343774003 | SERPINC1 | c.980T>A (p.Val327Glu) c.559+2139T>A (n.559+2139T>A) c.836T>A (p.Val279Glu) c.1103T>A (p.Val368Glu) c.1061T>A (p.Val354Glu) c.959T>A (p.Val320Glu) c.923T>A (p.Val308Glu) c.764T>A (p.Val255Glu) | |
1 | g.173909726C>A | CA343774006 | SERPINC1 | c.979G>T (p.Val327Leu) c.559+2138G>T (n.559+2138G>T) c.835G>T (p.Val279Leu) c.1102G>T (p.Val368Leu) c.1060G>T (p.Val354Leu) c.958G>T (p.Val320Leu) c.922G>T (p.Val308Leu) c.763G>T (p.Val255Leu) | |
1 | g.173909726C= | CA1207936965 | SERPINC1 | c.979G= (p.Val327=) c.559+2138G= (n.559+2138G=) c.835G= (p.Val279=) c.1102G= (p.Val368=) c.1060G= (p.Val354=) c.958G= (p.Val320=) c.922G= (p.Val308=) c.763G= (p.Val255=) | |
1 | g.173909726C>G | CA343774007 | SERPINC1 | c.979G>C (p.Val327Leu) c.559+2138G>C (n.559+2138G>C) c.835G>C (p.Val279Leu) c.1102G>C (p.Val368Leu) c.1060G>C (p.Val354Leu) c.958G>C (p.Val320Leu) c.922G>C (p.Val308Leu) c.763G>C (p.Val255Leu) | |
1 | g.173909726C>T | CA343774009 | SERPINC1 | c.979G>A (p.Val327Ile) c.559+2138G>A (n.559+2138G>A) c.835G>A (p.Val279Ile) c.1102G>A (p.Val368Ile) c.1060G>A (p.Val354Ile) c.958G>A (p.Val320Ile) c.922G>A (p.Val308Ile) c.763G>A (p.Val255Ile) | dbSNP |
1 | g.173909727dup | CA915940633 | SERPINC1 | c.979dup (p.Val327GlyfsTer16) c.559+2138dup (n.559+2138dup) c.835dup (p.Val279GlyfsTer16) c.1102dup (p.Val368GlyfsTer16) c.1060dup (p.Val354GlyfsTer16) c.958dup (p.Val320GlyfsTer16) c.922dup (p.Val308GlyfsTer16) c.763dup (p.Val255GlyfsTer16) | |
1 | g.173909727C>A | CA343774010 | SERPINC1 | c.978G>T (p.Lys326Asn) c.559+2137G>T (n.559+2137G>T) c.834G>T (p.Lys278Asn) c.1101G>T (p.Lys367Asn) c.1059G>T (p.Lys353Asn) c.957G>T (p.Lys319Asn) c.921G>T (p.Lys307Asn) c.762G>T (p.Lys254Asn) | |
1 | g.173909727C= | CA1207936966 | SERPINC1 | c.978G= (p.Lys326=) c.559+2137G= (n.559+2137G=) c.834G= (p.Lys278=) c.1101G= (p.Lys367=) c.1059G= (p.Lys353=) c.957G= (p.Lys319=) c.921G= (p.Lys307=) c.762G= (p.Lys254=) | |
1 | g.173909727C>G | CA343774012 | SERPINC1 | c.978G>C (p.Lys326Asn) c.559+2137G>C (n.559+2137G>C) c.834G>C (p.Lys278Asn) c.1101G>C (p.Lys367Asn) c.1059G>C (p.Lys353Asn) c.957G>C (p.Lys319Asn) c.921G>C (p.Lys307Asn) c.762G>C (p.Lys254Asn) | |
1 | g.173909727C>T | CA421942967 | SERPINC1 | c.978G>A (p.Lys326=) c.559+2137G>A (n.559+2137G>A) c.834G>A (p.Lys278=) c.1101G>A (p.Lys367=) c.1059G>A (p.Lys353=) c.957G>A (p.Lys319=) c.921G>A (p.Lys307=) c.762G>A (p.Lys254=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909728T>A | CA343774014 | SERPINC1 | c.977A>T (p.Lys326Met) c.559+2136A>T (n.559+2136A>T) c.833A>T (p.Lys278Met) c.1100A>T (p.Lys367Met) c.1058A>T (p.Lys353Met) c.956A>T (p.Lys319Met) c.920A>T (p.Lys307Met) c.761A>T (p.Lys254Met) | |
1 | g.173909728T>C | CA343774018 | SERPINC1 | c.977A>G (p.Lys326Arg) c.559+2136A>G (n.559+2136A>G) c.833A>G (p.Lys278Arg) c.1100A>G (p.Lys367Arg) c.1058A>G (p.Lys353Arg) c.956A>G (p.Lys319Arg) c.920A>G (p.Lys307Arg) c.761A>G (p.Lys254Arg) | |
1 | g.173909728T>G | CA343774016 | SERPINC1 | c.977A>C (p.Lys326Thr) c.559+2136A>C (n.559+2136A>C) c.833A>C (p.Lys278Thr) c.1100A>C (p.Lys367Thr) c.1058A>C (p.Lys353Thr) c.956A>C (p.Lys319Thr) c.920A>C (p.Lys307Thr) c.761A>C (p.Lys254Thr) | |
1 | g.173909729T>A | CA343774020 | SERPINC1 | c.976A>T (p.Lys326Ter) c.559+2135A>T (n.559+2135A>T) c.832A>T (p.Lys278Ter) c.1099A>T (p.Lys367Ter) c.1057A>T (p.Lys353Ter) c.955A>T (p.Lys319Ter) c.919A>T (p.Lys307Ter) c.760A>T (p.Lys254Ter) | |
1 | g.173909729T>C | CA343774022 | SERPINC1 | c.976A>G (p.Lys326Glu) c.559+2135A>G (n.559+2135A>G) c.832A>G (p.Lys278Glu) c.1099A>G (p.Lys367Glu) c.1057A>G (p.Lys353Glu) c.955A>G (p.Lys319Glu) c.919A>G (p.Lys307Glu) c.760A>G (p.Lys254Glu) | dbSNP |
1 | g.173909729T>G | CA343774023 | SERPINC1 | c.976A>C (p.Lys326Gln) c.559+2135A>C (n.559+2135A>C) c.832A>C (p.Lys278Gln) c.1099A>C (p.Lys367Gln) c.1057A>C (p.Lys353Gln) c.955A>C (p.Lys319Gln) c.919A>C (p.Lys307Gln) c.760A>C (p.Lys254Gln) | |
1 | g.173909729T= | CA1207936967 | SERPINC1 | c.976A= (p.Lys326=) c.559+2135A= (n.559+2135A=) c.832A= (p.Lys278=) c.1099A= (p.Lys367=) c.1057A= (p.Lys353=) c.955A= (p.Lys319=) c.919A= (p.Lys307=) c.760A= (p.Lys254=) | |
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.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=) |