| 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.173909648del | CA337494 | SERPINC1 | c.1060del (p.Arg354AlafsTer10) c.560-2152del (n.560-2152del) c.916del (p.Arg306AlafsTer10) c.1183del (p.Arg395AlafsTer10) c.1141del (p.Arg381AlafsTer10) c.1039del (p.Arg347AlafsTer10) c.1003del (p.Arg335AlafsTer10) c.844del (p.Arg282AlafsTer10) | ClinVar dbSNP |
| 1 | g.173909648G>A | CA343773667 | SERPINC1 | c.1057C>T (p.Pro353Ser) c.560-2155C>T (n.560-2155C>T) c.913C>T (p.Pro305Ser) c.1180C>T (p.Pro394Ser) c.1138C>T (p.Pro380Ser) c.1036C>T (p.Pro346Ser) c.1000C>T (p.Pro334Ser) c.841C>T (p.Pro281Ser) | ClinVar dbSNP gnomAD v4 |
| 1 | g.173909648G>C | CA343773668 | SERPINC1 | c.1057C>G (p.Pro353Ala) c.560-2155C>G (n.560-2155C>G) c.913C>G (p.Pro305Ala) c.1180C>G (p.Pro394Ala) c.1138C>G (p.Pro380Ala) c.1036C>G (p.Pro346Ala) c.1000C>G (p.Pro334Ala) c.841C>G (p.Pro281Ala) | |
| 1 | g.173909648G>T | CA343773669 | SERPINC1 | c.1057C>A (p.Pro353Thr) c.560-2155C>A (n.560-2155C>A) c.913C>A (p.Pro305Thr) c.1180C>A (p.Pro394Thr) c.1138C>A (p.Pro380Thr) c.1036C>A (p.Pro346Thr) c.1000C>A (p.Pro334Thr) c.841C>A (p.Pro281Thr) | |
| 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=) |