Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.173908360_173915405delCA2573051419SERPINC1c.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
1g.173909622_173910322delCA2573051420SERPINC1c.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
1g.173909759T>ACA343774146SERPINC1c.946A>T (p.Ile316Phe)
n.597A>T
c.559+2105A>T (n.559+2105A>T)
c.802A>T (p.Ile268Phe)
c.1069A>T (p.Ile357Phe)
c.1027A>T (p.Ile343Phe)
c.925A>T (p.Ile309Phe)
c.889A>T (p.Ile297Phe)
c.730A>T (p.Ile244Phe)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.173909759T>CCA343774148SERPINC1c.946A>G (p.Ile316Val)
n.597A>G
c.559+2105A>G (n.559+2105A>G)
c.802A>G (p.Ile268Val)
c.1069A>G (p.Ile357Val)
c.1027A>G (p.Ile343Val)
c.925A>G (p.Ile309Val)
c.889A>G (p.Ile297Val)
c.730A>G (p.Ile244Val)
1g.173909759T>GCA343774150SERPINC1c.946A>C (p.Ile316Leu)
n.597A>C
c.559+2105A>C (n.559+2105A>C)
c.802A>C (p.Ile268Leu)
c.1069A>C (p.Ile357Leu)
c.1027A>C (p.Ile343Leu)
c.925A>C (p.Ile309Leu)
c.889A>C (p.Ile297Leu)
c.730A>C (p.Ile244Leu)
1g.173909759T=CA1207936985SERPINC1c.946A= (p.Ile316=)
n.597A=
c.559+2105A= (n.559+2105A=)
c.802A= (p.Ile268=)
c.1069A= (p.Ile357=)
c.1027A= (p.Ile343=)
c.925A= (p.Ile309=)
c.889A= (p.Ile297=)
c.730A= (p.Ile244=)
1g.173909760G>ACA421943014SERPINC1c.945C>T (p.Leu315=)
n.596C>T
c.559+2104C>T (n.559+2104C>T)
c.801C>T (p.Leu267=)
c.1068C>T (p.Leu356=)
c.1026C>T (p.Leu342=)
c.924C>T (p.Leu308=)
c.888C>T (p.Leu296=)
c.729C>T (p.Leu243=)
1g.173909760G>CCA421943015SERPINC1c.945C>G (p.Leu315=)
n.596C>G
c.559+2104C>G (n.559+2104C>G)
c.801C>G (p.Leu267=)
c.1068C>G (p.Leu356=)
c.1026C>G (p.Leu342=)
c.924C>G (p.Leu308=)
c.888C>G (p.Leu296=)
c.729C>G (p.Leu243=)
1g.173909760G>TCA421943016SERPINC1c.945C>A (p.Leu315=)
n.596C>A
c.559+2104C>A (n.559+2104C>A)
c.801C>A (p.Leu267=)
c.1068C>A (p.Leu356=)
c.1026C>A (p.Leu342=)
c.924C>A (p.Leu308=)
c.888C>A (p.Leu296=)
c.729C>A (p.Leu243=)
1g.173909761A>CCA343774152SERPINC1c.944T>G (p.Leu315Arg)
n.595T>G
c.559+2103T>G (n.559+2103T>G)
c.800T>G (p.Leu267Arg)
c.1067T>G (p.Leu356Arg)
c.1025T>G (p.Leu342Arg)
c.923T>G (p.Leu308Arg)
c.887T>G (p.Leu296Arg)
c.728T>G (p.Leu243Arg)
1g.173909761A>GCA343774153SERPINC1c.944T>C (p.Leu315Pro)
n.595T>C
c.559+2103T>C (n.559+2103T>C)
c.800T>C (p.Leu267Pro)
c.1067T>C (p.Leu356Pro)
c.1025T>C (p.Leu342Pro)
c.923T>C (p.Leu308Pro)
c.887T>C (p.Leu296Pro)
c.728T>C (p.Leu243Pro)
1g.173909761A>TCA343774154SERPINC1c.944T>A (p.Leu315His)
n.595T>A
c.559+2103T>A (n.559+2103T>A)
c.800T>A (p.Leu267His)
c.1067T>A (p.Leu356His)
c.1025T>A (p.Leu342His)
c.923T>A (p.Leu308His)
c.887T>A (p.Leu296His)
c.728T>A (p.Leu243His)
1g.173909762G>ACA343774155SERPINC1c.943C>T (p.Leu315Phe)
n.594C>T
c.559+2102C>T (n.559+2102C>T)
c.799C>T (p.Leu267Phe)
c.1066C>T (p.Leu356Phe)
c.1024C>T (p.Leu342Phe)
c.922C>T (p.Leu308Phe)
c.886C>T (p.Leu296Phe)
c.727C>T (p.Leu243Phe)
1g.173909762G>CCA343774157SERPINC1c.943C>G (p.Leu315Val)
n.594C>G
c.559+2102C>G (n.559+2102C>G)
c.799C>G (p.Leu267Val)
c.1066C>G (p.Leu356Val)
c.1024C>G (p.Leu342Val)
c.922C>G (p.Leu308Val)
c.886C>G (p.Leu296Val)
c.727C>G (p.Leu243Val)
1g.173909762G>TCA343774158SERPINC1c.943C>A (p.Leu315Ile)
n.594C>A
c.559+2102C>A (n.559+2102C>A)
c.799C>A (p.Leu267Ile)
c.1066C>A (p.Leu356Ile)
c.1024C>A (p.Leu342Ile)
c.922C>A (p.Leu308Ile)
c.886C>A (p.Leu296Ile)
c.727C>A (p.Leu243Ile)
1g.173909763G>ACA421942704SERPINC1c.942C>T (p.Val314=)
n.593C>T
c.559+2101C>T (n.559+2101C>T)
c.798C>T (p.Val266=)
c.1065C>T (p.Val355=)
c.1023C>T (p.Val341=)
c.921C>T (p.Val307=)
c.885C>T (p.Val295=)
c.726C>T (p.Val242=)
 dbSNP gnomAD v4
1g.173909763G>CCA421942705SERPINC1c.942C>G (p.Val314=)
n.593C>G
c.559+2101C>G (n.559+2101C>G)
c.798C>G (p.Val266=)
c.1065C>G (p.Val355=)
c.1023C>G (p.Val341=)
c.921C>G (p.Val307=)
c.885C>G (p.Val295=)
c.726C>G (p.Val242=)
 dbSNP
1g.173909763G=CA1207936986SERPINC1c.942C= (p.Val314=)
n.593C=
c.559+2101C= (n.559+2101C=)
c.798C= (p.Val266=)
c.1065C= (p.Val355=)
c.1023C= (p.Val341=)
c.921C= (p.Val307=)
c.885C= (p.Val295=)
c.726C= (p.Val242=)
1g.173909763G>TCA421942706SERPINC1c.942C>A (p.Val314=)
n.593C>A
c.559+2101C>A (n.559+2101C>A)
c.798C>A (p.Val266=)
c.1065C>A (p.Val355=)
c.1023C>A (p.Val341=)
c.921C>A (p.Val307=)
c.885C>A (p.Val295=)
c.726C>A (p.Val242=)
1g.173909764A=CA1207936987SERPINC1c.941T= (p.Val314=)
n.592T=
c.559+2100T= (n.559+2100T=)
c.797T= (p.Val266=)
c.1064T= (p.Val355=)
c.1022T= (p.Val341=)
c.920T= (p.Val307=)
c.884T= (p.Val295=)
c.725T= (p.Val242=)
1g.173909764A>CCA343774160SERPINC1c.941T>G (p.Val314Gly)
n.592T>G
c.559+2100T>G (n.559+2100T>G)
c.797T>G (p.Val266Gly)
c.1064T>G (p.Val355Gly)
c.1022T>G (p.Val341Gly)
c.920T>G (p.Val307Gly)
c.884T>G (p.Val295Gly)
c.725T>G (p.Val242Gly)
1g.173909764A>GCA1251306SERPINC1c.941T>C (p.Val314Ala)
n.592T>C
c.559+2100T>C (n.559+2100T>C)
c.797T>C (p.Val266Ala)
c.1064T>C (p.Val355Ala)
c.1022T>C (p.Val341Ala)
c.920T>C (p.Val307Ala)
c.884T>C (p.Val295Ala)
c.725T>C (p.Val242Ala)
 dbSNP ExAC
1g.173909764A>TCA343774162SERPINC1c.941T>A (p.Val314Asp)
n.592T>A
c.559+2100T>A (n.559+2100T>A)
c.797T>A (p.Val266Asp)
c.1064T>A (p.Val355Asp)
c.1022T>A (p.Val341Asp)
c.920T>A (p.Val307Asp)
c.884T>A (p.Val295Asp)
c.725T>A (p.Val242Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.173909765C>ACA343774167SERPINC1c.940G>T (p.Val314Phe)
n.591G>T
c.559+2099G>T (n.559+2099G>T)
c.796G>T (p.Val266Phe)
c.1063G>T (p.Val355Phe)
c.1021G>T (p.Val341Phe)
c.919G>T (p.Val307Phe)
c.883G>T (p.Val295Phe)
c.724G>T (p.Val242Phe)
 gnomAD v4
1g.173909765C>GCA343774166SERPINC1c.940G>C (p.Val314Leu)
n.591G>C
c.559+2099G>C (n.559+2099G>C)
c.796G>C (p.Val266Leu)
c.1063G>C (p.Val355Leu)
c.1021G>C (p.Val341Leu)
c.919G>C (p.Val307Leu)
c.883G>C (p.Val295Leu)
c.724G>C (p.Val242Leu)
1g.173909765C>TCA343774165SERPINC1c.940G>A (p.Val314Ile)
n.591G>A
c.559+2099G>A (n.559+2099G>A)
c.796G>A (p.Val266Ile)
c.1063G>A (p.Val355Ile)
c.1021G>A (p.Val341Ile)
c.919G>A (p.Val307Ile)
c.883G>A (p.Val295Ile)
c.724G>A (p.Val242Ile)
 gnomAD v4
1g.173909766C>ACA343774171SERPINC1c.939G>T (p.Met313Ile)
n.590G>T
c.559+2098G>T (n.559+2098G>T)
c.795G>T (p.Met265Ile)
c.1062G>T (p.Met354Ile)
c.1020G>T (p.Met340Ile)
c.918G>T (p.Met306Ile)
c.882G>T (p.Met294Ile)
c.723G>T (p.Met241Ile)
1g.173909766C>GCA343774170SERPINC1c.939G>C (p.Met313Ile)
n.590G>C
c.559+2098G>C (n.559+2098G>C)
c.795G>C (p.Met265Ile)
c.1062G>C (p.Met354Ile)
c.1020G>C (p.Met340Ile)
c.918G>C (p.Met306Ile)
c.882G>C (p.Met294Ile)
c.723G>C (p.Met241Ile)
1g.173909766C>TCA343774173SERPINC1c.939G>A (p.Met313Ile)
n.590G>A
c.559+2098G>A (n.559+2098G>A)
c.795G>A (p.Met265Ile)
c.1062G>A (p.Met354Ile)
c.1020G>A (p.Met340Ile)
c.918G>A (p.Met306Ile)
c.882G>A (p.Met294Ile)
c.723G>A (p.Met241Ile)
1g.173909767A=CA1207936988SERPINC1c.938T= (p.Met313=)
n.589T=
c.559+2097T= (n.559+2097T=)
c.794T= (p.Met265=)
c.1061T= (p.Met354=)
c.1019T= (p.Met340=)
c.917T= (p.Met306=)
c.881T= (p.Met294=)
c.722T= (p.Met241=)
1g.173909767A>CCA343774175SERPINC1c.938T>G (p.Met313Arg)
n.589T>G
c.559+2097T>G (n.559+2097T>G)
c.794T>G (p.Met265Arg)
c.1061T>G (p.Met354Arg)
c.1019T>G (p.Met340Arg)
c.917T>G (p.Met306Arg)
c.881T>G (p.Met294Arg)
c.722T>G (p.Met241Arg)
1g.173909767A>GCA1251307SERPINC1c.938T>C (p.Met313Thr)
n.589T>C
c.559+2097T>C (n.559+2097T>C)
c.794T>C (p.Met265Thr)
c.1061T>C (p.Met354Thr)
c.1019T>C (p.Met340Thr)
c.917T>C (p.Met306Thr)
c.881T>C (p.Met294Thr)
c.722T>C (p.Met241Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.173909767A>TCA343774177SERPINC1c.938T>A (p.Met313Lys)
n.589T>A
c.559+2097T>A (n.559+2097T>A)
c.794T>A (p.Met265Lys)
c.1061T>A (p.Met354Lys)
c.1019T>A (p.Met340Lys)
c.917T>A (p.Met306Lys)
c.881T>A (p.Met294Lys)
c.722T>A (p.Met241Lys)
1g.173909768T>ACA343774180SERPINC1c.937A>T (p.Met313Leu)
n.588A>T
c.559+2096A>T (n.559+2096A>T)
c.793A>T (p.Met265Leu)
c.1060A>T (p.Met354Leu)
c.1018A>T (p.Met340Leu)
c.916A>T (p.Met306Leu)
c.880A>T (p.Met294Leu)
c.721A>T (p.Met241Leu)
1g.173909768T>CCA343774181SERPINC1c.937A>G (p.Met313Val)
n.588A>G
c.559+2096A>G (n.559+2096A>G)
c.793A>G (p.Met265Val)
c.1060A>G (p.Met354Val)
c.1018A>G (p.Met340Val)
c.916A>G (p.Met306Val)
c.880A>G (p.Met294Val)
c.721A>G (p.Met241Val)
1g.173909768T>GCA343774183SERPINC1c.937A>C (p.Met313Leu)
n.588A>C
c.559+2096A>C (n.559+2096A>C)
c.793A>C (p.Met265Leu)
c.1060A>C (p.Met354Leu)
c.1018A>C (p.Met340Leu)
c.916A>C (p.Met306Leu)
c.880A>C (p.Met294Leu)
c.721A>C (p.Met241Leu)
1g.173909769G>ACA421942707SERPINC1c.936C>T (p.Thr312=)
n.587C>T
c.559+2095C>T (n.559+2095C>T)
c.792C>T (p.Thr264=)
c.1059C>T (p.Thr353=)
c.1017C>T (p.Thr339=)
c.915C>T (p.Thr305=)
c.879C>T (p.Thr293=)
c.720C>T (p.Thr240=)
1g.173909769G>CCA421942708SERPINC1c.936C>G (p.Thr312=)
n.587C>G
c.559+2095C>G (n.559+2095C>G)
c.792C>G (p.Thr264=)
c.1059C>G (p.Thr353=)
c.1017C>G (p.Thr339=)
c.915C>G (p.Thr305=)
c.879C>G (p.Thr293=)
c.720C>G (p.Thr240=)
1g.173909769G=CA1207936989SERPINC1c.936C= (p.Thr312=)
n.587C=
c.559+2095C= (n.559+2095C=)
c.792C= (p.Thr264=)
c.1059C= (p.Thr353=)
c.1017C= (p.Thr339=)
c.915C= (p.Thr305=)
c.879C= (p.Thr293=)
c.720C= (p.Thr240=)
1g.173909769G>TCA1251308SERPINC1c.936C>A (p.Thr312=)
n.587C>A
c.559+2095C>A (n.559+2095C>A)
c.792C>A (p.Thr264=)
c.1059C>A (p.Thr353=)
c.1017C>A (p.Thr339=)
c.915C>A (p.Thr305=)
c.879C>A (p.Thr293=)
c.720C>A (p.Thr240=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.173909770G>ACA1251309SERPINC1c.935C>T (p.Thr312Ile)
n.586C>T
c.559+2094C>T (n.559+2094C>T)
c.791C>T (p.Thr264Ile)
c.1058C>T (p.Thr353Ile)
c.1016C>T (p.Thr339Ile)
c.914C>T (p.Thr305Ile)
c.878C>T (p.Thr293Ile)
c.719C>T (p.Thr240Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.173909770G>CCA343774187SERPINC1c.935C>G (p.Thr312Ser)
n.586C>G
c.559+2094C>G (n.559+2094C>G)
c.791C>G (p.Thr264Ser)
c.1058C>G (p.Thr353Ser)
c.1016C>G (p.Thr339Ser)
c.914C>G (p.Thr305Ser)
c.878C>G (p.Thr293Ser)
c.719C>G (p.Thr240Ser)
1g.173909770G=CA1207936990SERPINC1c.935C= (p.Thr312=)
n.586C=
c.559+2094C= (n.559+2094C=)
c.791C= (p.Thr264=)
c.1058C= (p.Thr353=)
c.1016C= (p.Thr339=)
c.914C= (p.Thr305=)
c.878C= (p.Thr293=)
c.719C= (p.Thr240=)
1g.173909770G>TCA343774189SERPINC1c.935C>A (p.Thr312Asn)
n.586C>A
c.559+2094C>A (n.559+2094C>A)
c.791C>A (p.Thr264Asn)
c.1058C>A (p.Thr353Asn)
c.1016C>A (p.Thr339Asn)
c.914C>A (p.Thr305Asn)
c.878C>A (p.Thr293Asn)
c.719C>A (p.Thr240Asn)
1g.173909771T>ACA343774191SERPINC1c.934A>T (p.Thr312Ser)
n.585A>T
c.559+2093A>T (n.559+2093A>T)
c.790A>T (p.Thr264Ser)
c.1057A>T (p.Thr353Ser)
c.1015A>T (p.Thr339Ser)
c.913A>T (p.Thr305Ser)
c.877A>T (p.Thr293Ser)
c.718A>T (p.Thr240Ser)
1g.173909771T>CCA343774192SERPINC1c.934A>G (p.Thr312Ala)
n.585A>G
c.559+2093A>G (n.559+2093A>G)
c.790A>G (p.Thr264Ala)
c.1057A>G (p.Thr353Ala)
c.1015A>G (p.Thr339Ala)
c.913A>G (p.Thr305Ala)
c.877A>G (p.Thr293Ala)
c.718A>G (p.Thr240Ala)
 COSMIC
1g.173909771T>GCA343774194SERPINC1c.934A>C (p.Thr312Pro)
n.585A>C
c.559+2093A>C (n.559+2093A>C)
c.790A>C (p.Thr264Pro)
c.1057A>C (p.Thr353Pro)
c.1015A>C (p.Thr339Pro)
c.913A>C (p.Thr305Pro)
c.877A>C (p.Thr293Pro)
c.718A>C (p.Thr240Pro)
1g.173909772G>ACA421942709SERPINC1c.933C>T (p.Ile311=)
n.584C>T
c.559+2092C>T (n.559+2092C>T)
c.789C>T (p.Ile263=)
c.1056C>T (p.Ile352=)
c.1014C>T (p.Ile338=)
c.912C>T (p.Ile304=)
c.876C>T (p.Ile292=)
c.717C>T (p.Ile239=)
 gnomAD v4
1g.173909772G>CCA343774195SERPINC1c.933C>G (p.Ile311Met)
n.584C>G
c.559+2092C>G (n.559+2092C>G)
c.789C>G (p.Ile263Met)
c.1056C>G (p.Ile352Met)
c.1014C>G (p.Ile338Met)
c.912C>G (p.Ile304Met)
c.876C>G (p.Ile292Met)
c.717C>G (p.Ile239Met)
1g.173909772G>TCA421942710SERPINC1c.933C>A (p.Ile311=)
n.584C>A
c.559+2092C>A (n.559+2092C>A)
c.789C>A (p.Ile263=)
c.1056C>A (p.Ile352=)
c.1014C>A (p.Ile338=)
c.912C>A (p.Ile304=)
c.876C>A (p.Ile292=)
c.717C>A (p.Ile239=)
1g.173909773A>CCA343774197SERPINC1c.932T>G (p.Ile311Ser)
n.583T>G
c.559+2091T>G (n.559+2091T>G)
c.788T>G (p.Ile263Ser)
c.1055T>G (p.Ile352Ser)
c.1013T>G (p.Ile338Ser)
c.911T>G (p.Ile304Ser)
c.875T>G (p.Ile292Ser)
c.716T>G (p.Ile239Ser)
1g.173909773A>GCA343774199SERPINC1c.932T>C (p.Ile311Thr)
n.583T>C
c.559+2091T>C (n.559+2091T>C)
c.788T>C (p.Ile263Thr)
c.1055T>C (p.Ile352Thr)
c.1013T>C (p.Ile338Thr)
c.911T>C (p.Ile304Thr)
c.875T>C (p.Ile292Thr)
c.716T>C (p.Ile239Thr)
 gnomAD v4
1g.173909773A>TCA343774201SERPINC1c.932T>A (p.Ile311Asn)
n.583T>A
c.559+2091T>A (n.559+2091T>A)
c.788T>A (p.Ile263Asn)
c.1055T>A (p.Ile352Asn)
c.1013T>A (p.Ile338Asn)
c.911T>A (p.Ile304Asn)
c.875T>A (p.Ile292Asn)
c.716T>A (p.Ile239Asn)
1g.173909774T>ACA343774203SERPINC1c.931A>T (p.Ile311Phe)
n.582A>T
c.559+2090A>T (n.559+2090A>T)
c.787A>T (p.Ile263Phe)
c.1054A>T (p.Ile352Phe)
c.1012A>T (p.Ile338Phe)
c.910A>T (p.Ile304Phe)
c.874A>T (p.Ile292Phe)
c.715A>T (p.Ile239Phe)
1g.173909774T>CCA343774205SERPINC1c.931A>G (p.Ile311Val)
n.582A>G
c.559+2090A>G (n.559+2090A>G)
c.787A>G (p.Ile263Val)
c.1054A>G (p.Ile352Val)
c.1012A>G (p.Ile338Val)
c.910A>G (p.Ile304Val)
c.874A>G (p.Ile292Val)
c.715A>G (p.Ile239Val)
1g.173909774T>GCA343774206SERPINC1c.931A>C (p.Ile311Leu)
n.582A>C
c.559+2090A>C (n.559+2090A>C)
c.787A>C (p.Ile263Leu)
c.1054A>C (p.Ile352Leu)
c.1012A>C (p.Ile338Leu)
c.910A>C (p.Ile304Leu)
c.874A>C (p.Ile292Leu)
c.715A>C (p.Ile239Leu)
1g.173909775G>ACA421942711SERPINC1c.930C>T (p.Asp310=)
n.581C>T
c.559+2089C>T (n.559+2089C>T)
c.786C>T (p.Asp262=)
c.1053C>T (p.Asp351=)
c.1011C>T (p.Asp337=)
c.909C>T (p.Asp303=)
c.873C>T (p.Asp291=)
c.714C>T (p.Asp238=)
1g.173909775G>CCA343774208SERPINC1c.930C>G (p.Asp310Glu)
n.581C>G
c.559+2089C>G (n.559+2089C>G)
c.786C>G (p.Asp262Glu)
c.1053C>G (p.Asp351Glu)
c.1011C>G (p.Asp337Glu)
c.909C>G (p.Asp303Glu)
c.873C>G (p.Asp291Glu)
c.714C>G (p.Asp238Glu)
 COSMIC
1g.173909775G>TCA343774210SERPINC1c.930C>A (p.Asp310Glu)
n.581C>A
c.559+2089C>A (n.559+2089C>A)
c.786C>A (p.Asp262Glu)
c.1053C>A (p.Asp351Glu)
c.1011C>A (p.Asp337Glu)
c.909C>A (p.Asp303Glu)
c.873C>A (p.Asp291Glu)
c.714C>A (p.Asp238Glu)
1g.173909776T>ACA343774212SERPINC1c.929A>T (p.Asp310Val)
n.580A>T
c.559+2088A>T (n.559+2088A>T)
c.785A>T (p.Asp262Val)
c.1052A>T (p.Asp351Val)
c.1010A>T (p.Asp337Val)
c.908A>T (p.Asp303Val)
c.872A>T (p.Asp291Val)
c.713A>T (p.Asp238Val)
1g.173909776T>CCA343774214SERPINC1c.929A>G (p.Asp310Gly)
n.580A>G
c.559+2088A>G (n.559+2088A>G)
c.785A>G (p.Asp262Gly)
c.1052A>G (p.Asp351Gly)
c.1010A>G (p.Asp337Gly)
c.908A>G (p.Asp303Gly)
c.872A>G (p.Asp291Gly)
c.713A>G (p.Asp238Gly)
1g.173909776T>GCA343774216SERPINC1c.929A>C (p.Asp310Ala)
n.580A>C
c.559+2088A>C (n.559+2088A>C)
c.785A>C (p.Asp262Ala)
c.1052A>C (p.Asp351Ala)
c.1010A>C (p.Asp337Ala)
c.908A>C (p.Asp303Ala)
c.872A>C (p.Asp291Ala)
c.713A>C (p.Asp238Ala)
1g.173909777C>ACA343774217SERPINC1c.928G>T (p.Asp310Tyr)
n.579G>T
c.559+2087G>T (n.559+2087G>T)
c.784G>T (p.Asp262Tyr)
c.1051G>T (p.Asp351Tyr)
c.1009G>T (p.Asp337Tyr)
c.907G>T (p.Asp303Tyr)
c.871G>T (p.Asp291Tyr)
c.712G>T (p.Asp238Tyr)
 gnomAD v4
1g.173909777C>GCA343774219SERPINC1c.928G>C (p.Asp310His)
n.579G>C
c.559+2087G>C (n.559+2087G>C)
c.784G>C (p.Asp262His)
c.1051G>C (p.Asp351His)
c.1009G>C (p.Asp337His)
c.907G>C (p.Asp303His)
c.871G>C (p.Asp291His)
c.712G>C (p.Asp238His)
1g.173909777C>TCA343774220SERPINC1c.928G>A (p.Asp310Asn)
n.579G>A
c.559+2087G>A (n.559+2087G>A)
c.784G>A (p.Asp262Asn)
c.1051G>A (p.Asp351Asn)
c.1009G>A (p.Asp337Asn)
c.907G>A (p.Asp303Asn)
c.871G>A (p.Asp291Asn)
c.712G>A (p.Asp238Asn)
1g.173909778A=CA1149156605SERPINC1c.927T= (p.Asp309=)
n.578T=
c.559+2086T= (n.559+2086T=)
c.783T= (p.Asp261=)
c.1050T= (p.Asp350=)
c.1008T= (p.Asp336=)
c.906T= (p.Asp302=)
c.870T= (p.Asp290=)
c.711T= (p.Asp237=)
1g.173909778A>CCA343774222SERPINC1c.927T>G (p.Asp309Glu)
n.578T>G
c.559+2086T>G (n.559+2086T>G)
c.783T>G (p.Asp261Glu)
c.1050T>G (p.Asp350Glu)
c.1008T>G (p.Asp336Glu)
c.906T>G (p.Asp302Glu)
c.870T>G (p.Asp290Glu)
c.711T>G (p.Asp237Glu)
1g.173909778A>GCA1251310SERPINC1c.927T>C (p.Asp309=)
n.578T>C
c.559+2086T>C (n.559+2086T>C)
c.783T>C (p.Asp261=)
c.1050T>C (p.Asp350=)
c.1008T>C (p.Asp336=)
c.906T>C (p.Asp302=)
c.870T>C (p.Asp290=)
c.711T>C (p.Asp237=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.173909778A>TCA343774223SERPINC1c.927T>A (p.Asp309Glu)
n.578T>A
c.559+2086T>A (n.559+2086T>A)
c.783T>A (p.Asp261Glu)
c.1050T>A (p.Asp350Glu)
c.1008T>A (p.Asp336Glu)
c.906T>A (p.Asp302Glu)
c.870T>A (p.Asp290Glu)
c.711T>A (p.Asp237Glu)
 dbSNP
1g.173909779T>ACA343774226SERPINC1c.926A>T (p.Asp309Val)
n.577A>T
c.559+2085A>T (n.559+2085A>T)
c.782A>T (p.Asp261Val)
c.1049A>T (p.Asp350Val)
c.1007A>T (p.Asp336Val)
c.905A>T (p.Asp302Val)
c.869A>T (p.Asp290Val)
c.710A>T (p.Asp237Val)
1g.173909779T>CCA343774228SERPINC1c.926A>G (p.Asp309Gly)
n.577A>G
c.559+2085A>G (n.559+2085A>G)
c.782A>G (p.Asp261Gly)
c.1049A>G (p.Asp350Gly)
c.1007A>G (p.Asp336Gly)
c.905A>G (p.Asp302Gly)
c.869A>G (p.Asp290Gly)
c.710A>G (p.Asp237Gly)
1g.173909779T>GCA343774229SERPINC1c.926A>C (p.Asp309Ala)
n.577A>C
c.559+2085A>C (n.559+2085A>C)
c.782A>C (p.Asp261Ala)
c.1049A>C (p.Asp350Ala)
c.1007A>C (p.Asp336Ala)
c.905A>C (p.Asp302Ala)
c.869A>C (p.Asp290Ala)
c.710A>C (p.Asp237Ala)
1g.173909780C>ACA343774231SERPINC1c.925G>T (p.Asp309Tyr)
n.576G>T
c.559+2084G>T (n.559+2084G>T)
c.781G>T (p.Asp261Tyr)
c.1048G>T (p.Asp350Tyr)
c.1006G>T (p.Asp336Tyr)
c.904G>T (p.Asp302Tyr)
c.868G>T (p.Asp290Tyr)
c.709G>T (p.Asp237Tyr)
1g.173909780C>GCA343774233SERPINC1c.925G>C (p.Asp309His)
n.576G>C
c.559+2084G>C (n.559+2084G>C)
c.781G>C (p.Asp261His)
c.1048G>C (p.Asp350His)
c.1006G>C (p.Asp336His)
c.904G>C (p.Asp302His)
c.868G>C (p.Asp290His)
c.709G>C (p.Asp237His)
1g.173909780C>TCA343774235SERPINC1c.925G>A (p.Asp309Asn)
n.576G>A
c.559+2084G>A (n.559+2084G>A)
c.781G>A (p.Asp261Asn)
c.1048G>A (p.Asp350Asn)
c.1006G>A (p.Asp336Asn)
c.904G>A (p.Asp302Asn)
c.868G>A (p.Asp290Asn)
c.709G>A (p.Asp237Asn)
 ClinVar gnomAD v4
1g.173909781A=CA1207936991SERPINC1c.924T= (p.Gly308=)
n.575T=
c.559+2083T= (n.559+2083T=)
c.780T= (p.Gly260=)
c.1047T= (p.Gly349=)
c.1005T= (p.Gly335=)
c.903T= (p.Gly301=)
c.867T= (p.Gly289=)
c.708T= (p.Gly236=)
1g.173909781A>CCA421942712SERPINC1c.924T>G (p.Gly308=)
n.575T>G
c.559+2083T>G (n.559+2083T>G)
c.780T>G (p.Gly260=)
c.1047T>G (p.Gly349=)
c.1005T>G (p.Gly335=)
c.903T>G (p.Gly301=)
c.867T>G (p.Gly289=)
c.708T>G (p.Gly236=)
 dbSNP
1g.173909781A>GCA421942713SERPINC1c.924T>C (p.Gly308=)
n.575T>C
c.559+2083T>C (n.559+2083T>C)
c.780T>C (p.Gly260=)
c.1047T>C (p.Gly349=)
c.1005T>C (p.Gly335=)
c.903T>C (p.Gly301=)
c.867T>C (p.Gly289=)
c.708T>C (p.Gly236=)
1g.173909781A>TCA421942714SERPINC1c.924T>A (p.Gly308=)
n.575T>A
c.559+2083T>A (n.559+2083T>A)
c.780T>A (p.Gly260=)
c.1047T>A (p.Gly349=)
c.1005T>A (p.Gly335=)
c.903T>A (p.Gly301=)
c.867T>A (p.Gly289=)
c.708T>A (p.Gly236=)
1g.173909782C>ACA343774241SERPINC1c.923G>T (p.Gly308Val)
n.574G>T
c.559+2082G>T (n.559+2082G>T)
c.779G>T (p.Gly260Val)
c.1046G>T (p.Gly349Val)
c.1004G>T (p.Gly335Val)
c.902G>T (p.Gly301Val)
c.866G>T (p.Gly289Val)
c.707G>T (p.Gly236Val)
1g.173909782C>GCA343774237SERPINC1c.923G>C (p.Gly308Ala)
n.574G>C
c.559+2082G>C (n.559+2082G>C)
c.779G>C (p.Gly260Ala)
c.1046G>C (p.Gly349Ala)
c.1004G>C (p.Gly335Ala)
c.902G>C (p.Gly301Ala)
c.866G>C (p.Gly289Ala)
c.707G>C (p.Gly236Ala)
1g.173909782C>TCA343774239SERPINC1c.923G>A (p.Gly308Asp)
n.574G>A
c.559+2082G>A (n.559+2082G>A)
c.779G>A (p.Gly260Asp)
c.1046G>A (p.Gly349Asp)
c.1004G>A (p.Gly335Asp)
c.902G>A (p.Gly301Asp)
c.866G>A (p.Gly289Asp)
c.707G>A (p.Gly236Asp)
1g.173909783C>ACA343774243SERPINC1c.922G>T (p.Gly308Cys)
n.573G>T
c.559+2081G>T (n.559+2081G>T)
c.778G>T (p.Gly260Cys)
c.1045G>T (p.Gly349Cys)
c.1003G>T (p.Gly335Cys)
c.901G>T (p.Gly301Cys)
c.865G>T (p.Gly289Cys)
c.706G>T (p.Gly236Cys)
1g.173909783C=CA1207936992SERPINC1c.922G= (p.Gly308=)
n.573G=
c.559+2081G= (n.559+2081G=)
c.778G= (p.Gly260=)
c.1045G= (p.Gly349=)
c.1003G= (p.Gly335=)
c.901G= (p.Gly301=)
c.865G= (p.Gly289=)
c.706G= (p.Gly236=)
1g.173909783C>GCA343774244SERPINC1c.922G>C (p.Gly308Arg)
n.573G>C
c.559+2081G>C (n.559+2081G>C)
c.778G>C (p.Gly260Arg)
c.1045G>C (p.Gly349Arg)
c.1003G>C (p.Gly335Arg)
c.901G>C (p.Gly301Arg)
c.865G>C (p.Gly289Arg)
c.706G>C (p.Gly236Arg)
1g.173909783C>TCA343774246SERPINC1c.922G>A (p.Gly308Ser)
n.573G>A
c.559+2081G>A (n.559+2081G>A)
c.778G>A (p.Gly260Ser)
c.1045G>A (p.Gly349Ser)
c.1003G>A (p.Gly335Ser)
c.901G>A (p.Gly301Ser)
c.865G>A (p.Gly289Ser)
c.706G>A (p.Gly236Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.173909784T>ACA343774248SERPINC1c.921A>T (p.Lys307Asn)
n.572A>T
c.559+2080A>T (n.559+2080A>T)
c.777A>T (p.Lys259Asn)
c.1044A>T (p.Lys348Asn)
c.1002A>T (p.Lys334Asn)
c.900A>T (p.Lys300Asn)
c.864A>T (p.Lys288Asn)
c.705A>T (p.Lys235Asn)
1g.173909784T>CCA421942715SERPINC1c.921A>G (p.Lys307=)
n.572A>G
c.559+2080A>G (n.559+2080A>G)
c.777A>G (p.Lys259=)
c.1044A>G (p.Lys348=)
c.1002A>G (p.Lys334=)
c.900A>G (p.Lys300=)
c.864A>G (p.Lys288=)
c.705A>G (p.Lys235=)
 dbSNP gnomAD v4
1g.173909784T>GCA343774249SERPINC1c.921A>C (p.Lys307Asn)
n.572A>C
c.559+2080A>C (n.559+2080A>C)
c.777A>C (p.Lys259Asn)
c.1044A>C (p.Lys348Asn)
c.1002A>C (p.Lys334Asn)
c.900A>C (p.Lys300Asn)
c.864A>C (p.Lys288Asn)
c.705A>C (p.Lys235Asn)
1g.173909784T=CA1207936993SERPINC1c.921A= (p.Lys307=)
n.572A=
c.559+2080A= (n.559+2080A=)
c.777A= (p.Lys259=)
c.1044A= (p.Lys348=)
c.1002A= (p.Lys334=)
c.900A= (p.Lys300=)
c.864A= (p.Lys288=)
c.705A= (p.Lys235=)
1g.173909784_173909888delCA2586964406SERPINC1c.817_921del (p.Lys273_Lys307del)
n.468_572del
c.559+1976_559+2080del (n.559+1976_559+2080del)
c.673_777del (p.Lys225_Lys259del)
c.940_1044del (p.Lys314_Lys348del)
c.898_1002del (p.Lys300_Lys334del)
c.796_900del (p.Lys266_Lys300del)
c.763-3_864del
c.601_705del (p.Lys201_Lys235del)
1g.173909785T>ACA343774251SERPINC1c.920A>T (p.Lys307Ile)
n.571A>T
c.559+2079A>T (n.559+2079A>T)
c.776A>T (p.Lys259Ile)
c.1043A>T (p.Lys348Ile)
c.1001A>T (p.Lys334Ile)
c.899A>T (p.Lys300Ile)
c.863A>T (p.Lys288Ile)
c.704A>T (p.Lys235Ile)
1g.173909785T>CCA343774254SERPINC1c.920A>G (p.Lys307Arg)
n.571A>G
c.559+2079A>G (n.559+2079A>G)
c.776A>G (p.Lys259Arg)
c.1043A>G (p.Lys348Arg)
c.1001A>G (p.Lys334Arg)
c.899A>G (p.Lys300Arg)
c.863A>G (p.Lys288Arg)
c.704A>G (p.Lys235Arg)
 gnomAD v4
1g.173909785T>GCA343774253SERPINC1c.920A>C (p.Lys307Thr)
n.571A>C
c.559+2079A>C (n.559+2079A>C)
c.776A>C (p.Lys259Thr)
c.1043A>C (p.Lys348Thr)
c.1001A>C (p.Lys334Thr)
c.899A>C (p.Lys300Thr)
c.863A>C (p.Lys288Thr)
c.704A>C (p.Lys235Thr)
1g.173909786T>ACA343774256SERPINC1c.919A>T (p.Lys307Ter)
n.570A>T
c.559+2078A>T (n.559+2078A>T)
c.775A>T (p.Lys259Ter)
c.1042A>T (p.Lys348Ter)
c.1000A>T (p.Lys334Ter)
c.898A>T (p.Lys300Ter)
c.862A>T (p.Lys288Ter)
c.703A>T (p.Lys235Ter)
1g.173909786T>CCA343774257SERPINC1c.919A>G (p.Lys307Glu)
n.570A>G
c.559+2078A>G (n.559+2078A>G)
c.775A>G (p.Lys259Glu)
c.1042A>G (p.Lys348Glu)
c.1000A>G (p.Lys334Glu)
c.898A>G (p.Lys300Glu)
c.862A>G (p.Lys288Glu)
c.703A>G (p.Lys235Glu)
1g.173909786T>GCA343774258SERPINC1c.919A>C (p.Lys307Gln)
n.570A>C
c.559+2078A>C (n.559+2078A>C)
c.775A>C (p.Lys259Gln)
c.1042A>C (p.Lys348Gln)
c.1000A>C (p.Lys334Gln)
c.898A>C (p.Lys300Gln)
c.862A>C (p.Lys288Gln)
c.703A>C (p.Lys235Gln)
1g.173909787G>ACA421942716SERPINC1c.918C>T (p.Phe306=)
n.569C>T
c.559+2077C>T (n.559+2077C>T)
c.774C>T (p.Phe258=)
c.1041C>T (p.Phe347=)
c.999C>T (p.Phe333=)
c.897C>T (p.Phe299=)
c.861C>T (p.Phe287=)
c.702C>T (p.Phe234=)
1g.173909787G>CCA343774260SERPINC1c.918C>G (p.Phe306Leu)
n.569C>G
c.559+2077C>G (n.559+2077C>G)
c.774C>G (p.Phe258Leu)
c.1041C>G (p.Phe347Leu)
c.999C>G (p.Phe333Leu)
c.897C>G (p.Phe299Leu)
c.861C>G (p.Phe287Leu)
c.702C>G (p.Phe234Leu)
1g.173909787G>TCA343774262SERPINC1c.918C>A (p.Phe306Leu)
n.569C>A
c.559+2077C>A (n.559+2077C>A)
c.774C>A (p.Phe258Leu)
c.1041C>A (p.Phe347Leu)
c.999C>A (p.Phe333Leu)
c.897C>A (p.Phe299Leu)
c.861C>A (p.Phe287Leu)
c.702C>A (p.Phe234Leu)
1g.173909788A>CCA343774264SERPINC1c.917T>G (p.Phe306Cys)
n.568T>G
c.559+2076T>G (n.559+2076T>G)
c.773T>G (p.Phe258Cys)
c.1040T>G (p.Phe347Cys)
c.998T>G (p.Phe333Cys)
c.896T>G (p.Phe299Cys)
c.860T>G (p.Phe287Cys)
c.701T>G (p.Phe234Cys)
1g.173909788A>GCA343774266SERPINC1c.917T>C (p.Phe306Ser)
n.568T>C
c.559+2076T>C (n.559+2076T>C)
c.773T>C (p.Phe258Ser)
c.1040T>C (p.Phe347Ser)
c.998T>C (p.Phe333Ser)
c.896T>C (p.Phe299Ser)
c.860T>C (p.Phe287Ser)
c.701T>C (p.Phe234Ser)
1g.173909788A>TCA343774268SERPINC1c.917T>A (p.Phe306Tyr)
n.568T>A
c.559+2076T>A (n.559+2076T>A)
c.773T>A (p.Phe258Tyr)
c.1040T>A (p.Phe347Tyr)
c.998T>A (p.Phe333Tyr)
c.896T>A (p.Phe299Tyr)
c.860T>A (p.Phe287Tyr)
c.701T>A (p.Phe234Tyr)
1g.173909789A=CA1207936994SERPINC1c.916T= (p.Phe306=)
n.567T=
c.559+2075T= (n.559+2075T=)
c.772T= (p.Phe258=)
c.1039T= (p.Phe347=)
c.997T= (p.Phe333=)
c.895T= (p.Phe299=)
c.859T= (p.Phe287=)
c.700T= (p.Phe234=)
1g.173909789A>CCA343774270SERPINC1c.916T>G (p.Phe306Val)
n.567T>G
c.559+2075T>G (n.559+2075T>G)
c.772T>G (p.Phe258Val)
c.1039T>G (p.Phe347Val)
c.997T>G (p.Phe333Val)
c.895T>G (p.Phe299Val)
c.859T>G (p.Phe287Val)
c.700T>G (p.Phe234Val)
1g.173909789A>GCA343774272SERPINC1c.916T>C (p.Phe306Leu)
n.567T>C
c.559+2075T>C (n.559+2075T>C)
c.772T>C (p.Phe258Leu)
c.1039T>C (p.Phe347Leu)
c.997T>C (p.Phe333Leu)
c.895T>C (p.Phe299Leu)
c.859T>C (p.Phe287Leu)
c.700T>C (p.Phe234Leu)
1g.173909789A>TCA343774274SERPINC1c.916T>A (p.Phe306Ile)
n.567T>A
c.559+2075T>A (n.559+2075T>A)
c.772T>A (p.Phe258Ile)
c.1039T>A (p.Phe347Ile)
c.997T>A (p.Phe333Ile)
c.895T>A (p.Phe299Ile)
c.859T>A (p.Phe287Ile)
c.700T>A (p.Phe234Ile)
1g.173909790G>ACA421942719SERPINC1c.915C>T (p.Pro305=)
n.566C>T
c.559+2074C>T (n.559+2074C>T)
c.771C>T (p.Pro257=)
c.1038C>T (p.Pro346=)
c.996C>T (p.Pro332=)
c.894C>T (p.Pro298=)
c.858C>T (p.Pro286=)
c.699C>T (p.Pro233=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.173909790G>CCA421942718SERPINC1c.915C>G (p.Pro305=)
n.566C>G
c.559+2074C>G (n.559+2074C>G)
c.771C>G (p.Pro257=)
c.1038C>G (p.Pro346=)
c.996C>G (p.Pro332=)
c.894C>G (p.Pro298=)
c.858C>G (p.Pro286=)
c.699C>G (p.Pro233=)
1g.173909790G=CA1207936995SERPINC1c.915C= (p.Pro305=)
n.566C=
c.559+2074C= (n.559+2074C=)
c.771C= (p.Pro257=)
c.1038C= (p.Pro346=)
c.996C= (p.Pro332=)
c.894C= (p.Pro298=)
c.858C= (p.Pro286=)
c.699C= (p.Pro233=)
1g.173909790G>TCA421942717SERPINC1c.915C>A (p.Pro305=)
n.566C>A
c.559+2074C>A (n.559+2074C>A)
c.771C>A (p.Pro257=)
c.1038C>A (p.Pro346=)
c.996C>A (p.Pro332=)
c.894C>A (p.Pro298=)
c.858C>A (p.Pro286=)
c.699C>A (p.Pro233=)
1g.173909792dupCA891313347SERPINC1c.915dup (p.Phe306LeufsTer4)
n.566dup
c.559+2074dup (n.559+2074dup)
c.771dup (p.Phe258LeufsTer4)
c.1038dup (p.Phe347LeufsTer4)
c.996dup (p.Phe333LeufsTer4)
c.894dup (p.Phe299LeufsTer4)
c.858dup (p.Phe287LeufsTer4)
c.699dup (p.Phe234LeufsTer4)
 dbSNP
1g.173909791G>ACA1251312SERPINC1c.914C>T (p.Pro305Leu)
n.565C>T
c.559+2073C>T (n.559+2073C>T)
c.770C>T (p.Pro257Leu)
c.1037C>T (p.Pro346Leu)
c.995C>T (p.Pro332Leu)
c.893C>T (p.Pro298Leu)
c.857C>T (p.Pro286Leu)
c.698C>T (p.Pro233Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.173909791G>CCA343774277SERPINC1c.914C>G (p.Pro305Arg)
n.565C>G
c.559+2073C>G (n.559+2073C>G)
c.770C>G (p.Pro257Arg)
c.1037C>G (p.Pro346Arg)
c.995C>G (p.Pro332Arg)
c.893C>G (p.Pro298Arg)
c.857C>G (p.Pro286Arg)
c.698C>G (p.Pro233Arg)
1g.173909791G=CA1145968789SERPINC1c.914C= (p.Pro305=)
n.565C=
c.559+2073C= (n.559+2073C=)
c.770C= (p.Pro257=)
c.1037C= (p.Pro346=)
c.995C= (p.Pro332=)
c.893C= (p.Pro298=)
c.857C= (p.Pro286=)
c.698C= (p.Pro233=)
1g.173909791G>TCA1251311SERPINC1c.914C>A (p.Pro305His)
n.565C>A
c.559+2073C>A (n.559+2073C>A)
c.770C>A (p.Pro257His)
c.1037C>A (p.Pro346His)
c.995C>A (p.Pro332His)
c.893C>A (p.Pro298His)
c.857C>A (p.Pro286His)
c.698C>A (p.Pro233His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.173909792G>ACA343774279SERPINC1c.913C>T (p.Pro305Ser)
n.564C>T
c.559+2072C>T (n.559+2072C>T)
c.769C>T (p.Pro257Ser)
c.1036C>T (p.Pro346Ser)
c.994C>T (p.Pro332Ser)
c.892C>T (p.Pro298Ser)
c.856C>T (p.Pro286Ser)
c.697C>T (p.Pro233Ser)
 gnomAD v4
1g.173909792G>CCA343774282SERPINC1c.913C>G (p.Pro305Ala)
n.564C>G
c.559+2072C>G (n.559+2072C>G)
c.769C>G (p.Pro257Ala)
c.1036C>G (p.Pro346Ala)
c.994C>G (p.Pro332Ala)
c.892C>G (p.Pro298Ala)
c.856C>G (p.Pro286Ala)
c.697C>G (p.Pro233Ala)
1g.173909792G=CA1207936996SERPINC1c.913C= (p.Pro305=)
n.564C=
c.559+2072C= (n.559+2072C=)
c.769C= (p.Pro257=)
c.1036C= (p.Pro346=)
c.994C= (p.Pro332=)
c.892C= (p.Pro298=)
c.856C= (p.Pro286=)
c.697C= (p.Pro233=)
1g.173909792G>TCA343774281SERPINC1c.913C>A (p.Pro305Thr)
n.564C>A
c.559+2072C>A (n.559+2072C>A)
c.769C>A (p.Pro257Thr)
c.1036C>A (p.Pro346Thr)
c.994C>A (p.Pro332Thr)
c.892C>A (p.Pro298Thr)
c.856C>A (p.Pro286Thr)
c.697C>A (p.Pro233Thr)
 dbSNP
1g.173909793C>ACA343774284SERPINC1c.912G>T (p.Leu304Phe)
n.563G>T
c.559+2071G>T (n.559+2071G>T)
c.768G>T (p.Leu256Phe)
c.1035G>T (p.Leu345Phe)
c.993G>T (p.Leu331Phe)
c.891G>T (p.Leu297Phe)
c.855G>T (p.Leu285Phe)
c.696G>T (p.Leu232Phe)
 COSMIC
1g.173909793C>GCA343774285SERPINC1c.912G>C (p.Leu304Phe)
n.563G>C
c.559+2071G>C (n.559+2071G>C)
c.768G>C (p.Leu256Phe)
c.1035G>C (p.Leu345Phe)
c.993G>C (p.Leu331Phe)
c.891G>C (p.Leu297Phe)
c.855G>C (p.Leu285Phe)
c.696G>C (p.Leu232Phe)
1g.173909793C>TCA421942720SERPINC1c.912G>A (p.Leu304=)
n.563G>A
c.559+2071G>A (n.559+2071G>A)
c.768G>A (p.Leu256=)
c.1035G>A (p.Leu345=)
c.993G>A (p.Leu331=)
c.891G>A (p.Leu297=)
c.855G>A (p.Leu285=)
c.696G>A (p.Leu232=)
1g.173909794A>CCA343774288SERPINC1c.911T>G (p.Leu304Trp)
n.562T>G
c.559+2070T>G (n.559+2070T>G)
c.767T>G (p.Leu256Trp)
c.1034T>G (p.Leu345Trp)
c.992T>G (p.Leu331Trp)
c.890T>G (p.Leu297Trp)
c.854T>G (p.Leu285Trp)
c.695T>G (p.Leu232Trp)
1g.173909794A>GCA343774289SERPINC1c.911T>C (p.Leu304Ser)
n.562T>C
c.559+2070T>C (n.559+2070T>C)
c.767T>C (p.Leu256Ser)
c.1034T>C (p.Leu345Ser)
c.992T>C (p.Leu331Ser)
c.890T>C (p.Leu297Ser)
c.854T>C (p.Leu285Ser)
c.695T>C (p.Leu232Ser)
1g.173909794A>TCA343774291SERPINC1c.911T>A (p.Leu304Ter)
n.562T>A
c.559+2070T>A (n.559+2070T>A)
c.767T>A (p.Leu256Ter)
c.1034T>A (p.Leu345Ter)
c.992T>A (p.Leu331Ter)
c.890T>A (p.Leu297Ter)
c.854T>A (p.Leu285Ter)
c.695T>A (p.Leu232Ter)
1g.173909795A=CA1142368681SERPINC1c.910T= (p.Leu304=)
n.561T=
c.559+2069T= (n.559+2069T=)
c.766T= (p.Leu256=)
c.1033T= (p.Leu345=)
c.991T= (p.Leu331=)
c.889T= (p.Leu297=)
c.853T= (p.Leu285=)
c.694T= (p.Leu232=)
1g.173909795A>CCA343774293SERPINC1c.910T>G (p.Leu304Val)
n.561T>G
c.559+2069T>G (n.559+2069T>G)
c.766T>G (p.Leu256Val)
c.1033T>G (p.Leu345Val)
c.991T>G (p.Leu331Val)
c.889T>G (p.Leu297Val)
c.853T>G (p.Leu285Val)
c.694T>G (p.Leu232Val)
1g.173909795A>GCA1251313SERPINC1c.910T>C (p.Leu304=)
n.561T>C
c.559+2069T>C (n.559+2069T>C)
c.766T>C (p.Leu256=)
c.1033T>C (p.Leu345=)
c.991T>C (p.Leu331=)
c.889T>C (p.Leu297=)
c.853T>C (p.Leu285=)
c.694T>C (p.Leu232=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.173909795A>TCA343774295SERPINC1c.910T>A (p.Leu304Met)
n.561T>A
c.559+2069T>A (n.559+2069T>A)
c.766T>A (p.Leu256Met)
c.1033T>A (p.Leu345Met)
c.991T>A (p.Leu331Met)
c.889T>A (p.Leu297Met)
c.853T>A (p.Leu285Met)
c.694T>A (p.Leu232Met)
1g.173909796C>ACA343774297SERPINC1c.909G>T (p.Glu303Asp)
n.560G>T
c.559+2068G>T (n.559+2068G>T)
c.765G>T (p.Glu255Asp)
c.1032G>T (p.Glu344Asp)
c.990G>T (p.Glu330Asp)
c.888G>T (p.Glu296Asp)
c.852G>T (p.Glu284Asp)
c.693G>T (p.Glu231Asp)
1g.173909796C>GCA343774298SERPINC1c.909G>C (p.Glu303Asp)
n.560G>C
c.559+2068G>C (n.559+2068G>C)
c.765G>C (p.Glu255Asp)
c.1032G>C (p.Glu344Asp)
c.990G>C (p.Glu330Asp)
c.888G>C (p.Glu296Asp)
c.852G>C (p.Glu284Asp)
c.693G>C (p.Glu231Asp)
1g.173909796C>TCA421942721SERPINC1c.909G>A (p.Glu303=)
n.560G>A
c.559+2068G>A (n.559+2068G>A)
c.765G>A (p.Glu255=)
c.1032G>A (p.Glu344=)
c.990G>A (p.Glu330=)
c.888G>A (p.Glu296=)
c.852G>A (p.Glu284=)
c.693G>A (p.Glu231=)
 gnomAD v4
1g.173909797T>ACA343774300SERPINC1c.908A>T (p.Glu303Val)
n.559A>T
c.559+2067A>T (n.559+2067A>T)
c.764A>T (p.Glu255Val)
c.1031A>T (p.Glu344Val)
c.989A>T (p.Glu330Val)
c.887A>T (p.Glu296Val)
c.851A>T (p.Glu284Val)
c.692A>T (p.Glu231Val)
1g.173909797T>CCA343774301SERPINC1c.908A>G (p.Glu303Gly)
n.559A>G
c.559+2067A>G (n.559+2067A>G)
c.764A>G (p.Glu255Gly)
c.1031A>G (p.Glu344Gly)
c.989A>G (p.Glu330Gly)
c.887A>G (p.Glu296Gly)
c.851A>G (p.Glu284Gly)
c.692A>G (p.Glu231Gly)
1g.173909797T>GCA343774303SERPINC1c.908A>C (p.Glu303Ala)
n.559A>C
c.559+2067A>C (n.559+2067A>C)
c.764A>C (p.Glu255Ala)
c.1031A>C (p.Glu344Ala)
c.989A>C (p.Glu330Ala)
c.887A>C (p.Glu296Ala)
c.851A>C (p.Glu284Ala)
c.692A>C (p.Glu231Ala)
1g.173909798C>ACA343774309SERPINC1c.907G>T (p.Glu303Ter)
n.558G>T
c.559+2066G>T (n.559+2066G>T)
c.763G>T (p.Glu255Ter)
c.1030G>T (p.Glu344Ter)
c.988G>T (p.Glu330Ter)
c.886G>T (p.Glu296Ter)
c.850G>T (p.Glu284Ter)
c.691G>T (p.Glu231Ter)
 dbSNP gnomAD v3 gnomAD v4
1g.173909798C=CA1207936997SERPINC1c.907G= (p.Glu303=)
n.558G=
c.559+2066G= (n.559+2066G=)
c.763G= (p.Glu255=)
c.1030G= (p.Glu344=)
c.988G= (p.Glu330=)
c.886G= (p.Glu296=)
c.850G= (p.Glu284=)
c.691G= (p.Glu231=)
1g.173909798C>GCA343774307SERPINC1c.907G>C (p.Glu303Gln)
n.558G>C
c.559+2066G>C (n.559+2066G>C)
c.763G>C (p.Glu255Gln)
c.1030G>C (p.Glu344Gln)
c.988G>C (p.Glu330Gln)
c.886G>C (p.Glu296Gln)
c.850G>C (p.Glu284Gln)
c.691G>C (p.Glu231Gln)
1g.173909798C>TCA343774305SERPINC1c.907G>A (p.Glu303Lys)
n.558G>A
c.559+2066G>A (n.559+2066G>A)
c.763G>A (p.Glu255Lys)
c.1030G>A (p.Glu344Lys)
c.988G>A (p.Glu330Lys)
c.886G>A (p.Glu296Lys)
c.850G>A (p.Glu284Lys)
c.691G>A (p.Glu231Lys)
 gnomAD v4
1g.173909798dupCA2579753966SERPINC1c.907dup (p.Glu303GlyfsTer7)
n.558dup
c.559+2066dup (n.559+2066dup)
c.763dup (p.Glu255GlyfsTer7)
c.1030dup (p.Glu344GlyfsTer7)
c.988dup (p.Glu330GlyfsTer7)
c.886dup (p.Glu296GlyfsTer7)
c.850dup (p.Glu284GlyfsTer7)
c.691dup (p.Glu231GlyfsTer7)
1g.173909799A=CA1207936998SERPINC1c.906T= (p.Leu302=)
n.557T=
c.559+2065T= (n.559+2065T=)
c.762T= (p.Leu254=)
c.1029T= (p.Leu343=)
c.987T= (p.Leu329=)
c.885T= (p.Leu295=)
c.849T= (p.Leu283=)
c.690T= (p.Leu230=)
1g.173909799A>CCA421942722SERPINC1c.906T>G (p.Leu302=)
n.557T>G
c.559+2065T>G (n.559+2065T>G)
c.762T>G (p.Leu254=)
c.1029T>G (p.Leu343=)
c.987T>G (p.Leu329=)
c.885T>G (p.Leu295=)
c.849T>G (p.Leu283=)
c.690T>G (p.Leu230=)
1g.173909799A>GCA421942723SERPINC1c.906T>C (p.Leu302=)
n.557T>C
c.559+2065T>C (n.559+2065T>C)
c.762T>C (p.Leu254=)
c.1029T>C (p.Leu343=)
c.987T>C (p.Leu329=)
c.885T>C (p.Leu295=)
c.849T>C (p.Leu283=)
c.690T>C (p.Leu230=)
1g.173909799A>TCA421942724SERPINC1c.906T>A (p.Leu302=)
n.557T>A
c.559+2065T>A (n.559+2065T>A)
c.762T>A (p.Leu254=)
c.1029T>A (p.Leu343=)
c.987T>A (p.Leu329=)
c.885T>A (p.Leu295=)
c.849T>A (p.Leu283=)
c.690T>A (p.Leu230=)
 dbSNP
1g.173909800A>CCA343774311SERPINC1c.905T>G (p.Leu302Arg)
n.556T>G
c.559+2064T>G (n.559+2064T>G)
c.761T>G (p.Leu254Arg)
c.1028T>G (p.Leu343Arg)
c.986T>G (p.Leu329Arg)
c.884T>G (p.Leu295Arg)
c.848T>G (p.Leu283Arg)
c.689T>G (p.Leu230Arg)
1g.173909800A>GCA343774312SERPINC1c.905T>C (p.Leu302Pro)
n.556T>C
c.559+2064T>C (n.559+2064T>C)
c.761T>C (p.Leu254Pro)
c.1028T>C (p.Leu343Pro)
c.986T>C (p.Leu329Pro)
c.884T>C (p.Leu295Pro)
c.848T>C (p.Leu283Pro)
c.689T>C (p.Leu230Pro)
1g.173909800A>TCA343774313SERPINC1c.905T>A (p.Leu302His)
n.556T>A
c.559+2064T>A (n.559+2064T>A)
c.761T>A (p.Leu254His)
c.1028T>A (p.Leu343His)
c.986T>A (p.Leu329His)
c.884T>A (p.Leu295His)
c.848T>A (p.Leu283His)
c.689T>A (p.Leu230His)
1g.173909801G>ACA343774316SERPINC1c.904C>T (p.Leu302Phe)
n.555C>T
c.559+2063C>T (n.559+2063C>T)
c.760C>T (p.Leu254Phe)
c.1027C>T (p.Leu343Phe)
c.985C>T (p.Leu329Phe)
c.883C>T (p.Leu295Phe)
c.847C>T (p.Leu283Phe)
c.688C>T (p.Leu230Phe)
1g.173909801G>CCA343774317SERPINC1c.904C>G (p.Leu302Val)
n.555C>G
c.559+2063C>G (n.559+2063C>G)
c.760C>G (p.Leu254Val)
c.1027C>G (p.Leu343Val)
c.985C>G (p.Leu329Val)
c.883C>G (p.Leu295Val)
c.847C>G (p.Leu283Val)
c.688C>G (p.Leu230Val)
1g.173909801G>TCA343774319SERPINC1c.904C>A (p.Leu302Ile)
n.555C>A
c.559+2063C>A (n.559+2063C>A)
c.760C>A (p.Leu254Ile)
c.1027C>A (p.Leu343Ile)
c.985C>A (p.Leu329Ile)
c.883C>A (p.Leu295Ile)
c.847C>A (p.Leu283Ile)
c.688C>A (p.Leu230Ile)
1g.173909802C>ACA421942725SERPINC1c.903G>T (p.Val301=)
n.554G>T
c.559+2062G>T (n.559+2062G>T)
c.759G>T (p.Val253=)
c.1026G>T (p.Val342=)
c.984G>T (p.Val328=)
c.882G>T (p.Val294=)
c.846G>T (p.Val282=)
c.687G>T (p.Val229=)
1g.173909802C>GCA421942726SERPINC1c.903G>C (p.Val301=)
n.554G>C
c.559+2062G>C (n.559+2062G>C)
c.759G>C (p.Val253=)
c.1026G>C (p.Val342=)
c.984G>C (p.Val328=)
c.882G>C (p.Val294=)
c.846G>C (p.Val282=)
c.687G>C (p.Val229=)
1g.173909802C>TCA421942727SERPINC1c.903G>A (p.Val301=)
n.554G>A
c.559+2062G>A (n.559+2062G>A)
c.759G>A (p.Val253=)
c.1026G>A (p.Val342=)
c.984G>A (p.Val328=)
c.882G>A (p.Val294=)
c.846G>A (p.Val282=)
c.687G>A (p.Val229=)
1g.173909803A>CCA343774321SERPINC1c.902T>G (p.Val301Gly)
n.553T>G
c.559+2061T>G (n.559+2061T>G)
c.758T>G (p.Val253Gly)
c.1025T>G (p.Val342Gly)
c.983T>G (p.Val328Gly)
c.881T>G (p.Val294Gly)
c.845T>G (p.Val282Gly)
c.686T>G (p.Val229Gly)
1g.173909803A>GCA343774323SERPINC1c.902T>C (p.Val301Ala)
n.553T>C
c.559+2061T>C (n.559+2061T>C)
c.758T>C (p.Val253Ala)
c.1025T>C (p.Val342Ala)
c.983T>C (p.Val328Ala)
c.881T>C (p.Val294Ala)
c.845T>C (p.Val282Ala)
c.686T>C (p.Val229Ala)
1g.173909803A>TCA343774325SERPINC1c.902T>A (p.Val301Glu)
n.553T>A
c.559+2061T>A (n.559+2061T>A)
c.758T>A (p.Val253Glu)
c.1025T>A (p.Val342Glu)
c.983T>A (p.Val328Glu)
c.881T>A (p.Val294Glu)
c.845T>A (p.Val282Glu)
c.686T>A (p.Val229Glu)
1g.173909804C>ACA343774327SERPINC1c.901G>T (p.Val301Leu)
n.552G>T
c.559+2060G>T (n.559+2060G>T)
c.757G>T (p.Val253Leu)
c.1024G>T (p.Val342Leu)
c.982G>T (p.Val328Leu)
c.880G>T (p.Val294Leu)
c.844G>T (p.Val282Leu)
c.685G>T (p.Val229Leu)
1g.173909804C>GCA343774328SERPINC1c.901G>C (p.Val301Leu)
n.552G>C
c.559+2060G>C (n.559+2060G>C)
c.757G>C (p.Val253Leu)
c.1024G>C (p.Val342Leu)
c.982G>C (p.Val328Leu)
c.880G>C (p.Val294Leu)
c.844G>C (p.Val282Leu)
c.685G>C (p.Val229Leu)
1g.173909804C>TCA343774330SERPINC1c.901G>A (p.Val301Met)
n.552G>A
c.559+2060G>A (n.559+2060G>A)
c.757G>A (p.Val253Met)
c.1024G>A (p.Val342Met)
c.982G>A (p.Val328Met)
c.880G>A (p.Val294Met)
c.844G>A (p.Val282Met)
c.685G>A (p.Val229Met)
1g.173909805C>ACA343774332SERPINC1c.900G>T (p.Gln300His)
n.551G>T
c.559+2059G>T (n.559+2059G>T)
c.756G>T (p.Gln252His)
c.1023G>T (p.Gln341His)
c.981G>T (p.Gln327His)
c.879G>T (p.Gln293His)
c.843G>T (p.Gln281His)
c.684G>T (p.Gln228His)
 dbSNP gnomAD v3 gnomAD v4
1g.173909805C=CA1207936999SERPINC1c.900G= (p.Gln300=)
n.551G=
c.559+2059G= (n.559+2059G=)
c.756G= (p.Gln252=)
c.1023G= (p.Gln341=)
c.981G= (p.Gln327=)
c.879G= (p.Gln293=)
c.843G= (p.Gln281=)
c.684G= (p.Gln228=)
1g.173909805C>GCA343774334SERPINC1c.900G>C (p.Gln300His)
n.551G>C
c.559+2059G>C (n.559+2059G>C)
c.756G>C (p.Gln252His)
c.1023G>C (p.Gln341His)
c.981G>C (p.Gln327His)
c.879G>C (p.Gln293His)
c.843G>C (p.Gln281His)
c.684G>C (p.Gln228His)
1g.173909805C>TCA421942728SERPINC1c.900G>A (p.Gln300=)
n.551G>A
c.559+2059G>A (n.559+2059G>A)
c.756G>A (p.Gln252=)
c.1023G>A (p.Gln341=)
c.981G>A (p.Gln327=)
c.879G>A (p.Gln293=)
c.843G>A (p.Gln281=)
c.684G>A (p.Gln228=)
1g.173909806T>ACA343774336SERPINC1c.899A>T (p.Gln300Leu)
n.550A>T
c.559+2058A>T (n.559+2058A>T)
c.755A>T (p.Gln252Leu)
c.1022A>T (p.Gln341Leu)
c.980A>T (p.Gln327Leu)
c.878A>T (p.Gln293Leu)
c.842A>T (p.Gln281Leu)
c.683A>T (p.Gln228Leu)
1g.173909806T>CCA343774338SERPINC1c.899A>G (p.Gln300Arg)
n.550A>G
c.559+2058A>G (n.559+2058A>G)
c.755A>G (p.Gln252Arg)
c.1022A>G (p.Gln341Arg)
c.980A>G (p.Gln327Arg)
c.878A>G (p.Gln293Arg)
c.842A>G (p.Gln281Arg)
c.683A>G (p.Gln228Arg)
1g.173909806T>GCA343774339SERPINC1c.899A>C (p.Gln300Pro)
n.550A>C
c.559+2058A>C (n.559+2058A>C)
c.755A>C (p.Gln252Pro)
c.1022A>C (p.Gln341Pro)
c.980A>C (p.Gln327Pro)
c.878A>C (p.Gln293Pro)
c.842A>C (p.Gln281Pro)
c.683A>C (p.Gln228Pro)
1g.173909807G>ACA343774342SERPINC1c.898C>T (p.Gln300Ter)
n.549C>T
c.559+2057C>T (n.559+2057C>T)
c.754C>T (p.Gln252Ter)
c.1021C>T (p.Gln341Ter)
c.979C>T (p.Gln327Ter)
c.877C>T (p.Gln293Ter)
c.841C>T (p.Gln281Ter)
c.682C>T (p.Gln228Ter)
1g.173909807G>CCA343774344SERPINC1c.898C>G (p.Gln300Glu)
n.549C>G
c.559+2057C>G (n.559+2057C>G)
c.754C>G (p.Gln252Glu)
c.1021C>G (p.Gln341Glu)
c.979C>G (p.Gln327Glu)
c.877C>G (p.Gln293Glu)
c.841C>G (p.Gln281Glu)
c.682C>G (p.Gln228Glu)
1g.173909807G>TCA343774346SERPINC1c.898C>A (p.Gln300Lys)
n.549C>A
c.559+2057C>A (n.559+2057C>A)
c.754C>A (p.Gln252Lys)
c.1021C>A (p.Gln341Lys)
c.979C>A (p.Gln327Lys)
c.877C>A (p.Gln293Lys)
c.841C>A (p.Gln281Lys)
c.682C>A (p.Gln228Lys)
1g.173909809delCA2579753961SERPINC1c.898del (p.Gln300ArgfsTer28)
n.549del
c.559+2057del (n.559+2057del)
c.754del (p.Gln252ArgfsTer28)
c.1021del (p.Gln341ArgfsTer28)
c.979del (p.Gln327ArgfsTer28)
c.877del (p.Gln293ArgfsTer28)
c.841del (p.Gln281ArgfsTer28)
c.682del (p.Gln228ArgfsTer28)
1g.173909808G>ACA421942731SERPINC1c.897C>T (p.Thr299=)
n.548C>T
c.559+2056C>T (n.559+2056C>T)
c.753C>T (p.Thr251=)
c.1020C>T (p.Thr340=)
c.978C>T (p.Thr326=)
c.876C>T (p.Thr292=)
c.840C>T (p.Thr280=)
c.681C>T (p.Thr227=)
1g.173909808G>CCA421942730SERPINC1c.897C>G (p.Thr299=)
n.548C>G
c.559+2056C>G (n.559+2056C>G)
c.753C>G (p.Thr251=)
c.1020C>G (p.Thr340=)
c.978C>G (p.Thr326=)
c.876C>G (p.Thr292=)
c.840C>G (p.Thr280=)
c.681C>G (p.Thr227=)
1g.173909808G>TCA421942729SERPINC1c.897C>A (p.Thr299=)
n.548C>A
c.559+2056C>A (n.559+2056C>A)
c.753C>A (p.Thr251=)
c.1020C>A (p.Thr340=)
c.978C>A (p.Thr326=)
c.876C>A (p.Thr292=)
c.840C>A (p.Thr280=)
c.681C>A (p.Thr227=)
1g.173909809G>ACA343774348SERPINC1c.896C>T (p.Thr299Ile)
n.547C>T
c.559+2055C>T (n.559+2055C>T)
c.752C>T (p.Thr251Ile)
c.1019C>T (p.Thr340Ile)
c.977C>T (p.Thr326Ile)
c.875C>T (p.Thr292Ile)
c.839C>T (p.Thr280Ile)
c.680C>T (p.Thr227Ile)
1g.173909809G>CCA343774350SERPINC1c.896C>G (p.Thr299Ser)
n.547C>G
c.559+2055C>G (n.559+2055C>G)
c.752C>G (p.Thr251Ser)
c.1019C>G (p.Thr340Ser)
c.977C>G (p.Thr326Ser)
c.875C>G (p.Thr292Ser)
c.839C>G (p.Thr280Ser)
c.680C>G (p.Thr227Ser)
1g.173909809G>TCA343774351SERPINC1c.896C>A (p.Thr299Asn)
n.547C>A
c.559+2055C>A (n.559+2055C>A)
c.752C>A (p.Thr251Asn)
c.1019C>A (p.Thr340Asn)
c.977C>A (p.Thr326Asn)
c.875C>A (p.Thr292Asn)
c.839C>A (p.Thr280Asn)
c.680C>A (p.Thr227Asn)
1g.173909810T>ACA343774354SERPINC1c.895A>T (p.Thr299Ser)
n.546A>T
c.559+2054A>T (n.559+2054A>T)
c.751A>T (p.Thr251Ser)
c.1018A>T (p.Thr340Ser)
c.976A>T (p.Thr326Ser)
c.874A>T (p.Thr292Ser)
c.838A>T (p.Thr280Ser)
c.679A>T (p.Thr227Ser)
 dbSNP
1g.173909810T>CCA343774356SERPINC1c.895A>G (p.Thr299Ala)
n.546A>G
c.559+2054A>G (n.559+2054A>G)
c.751A>G (p.Thr251Ala)
c.1018A>G (p.Thr340Ala)
c.976A>G (p.Thr326Ala)
c.874A>G (p.Thr292Ala)
c.838A>G (p.Thr280Ala)
c.679A>G (p.Thr227Ala)
1g.173909810T>GCA343774357SERPINC1c.895A>C (p.Thr299Pro)
n.546A>C
c.559+2054A>C (n.559+2054A>C)
c.751A>C (p.Thr251Pro)
c.1018A>C (p.Thr340Pro)
c.976A>C (p.Thr326Pro)
c.874A>C (p.Thr292Pro)
c.838A>C (p.Thr280Pro)
c.679A>C (p.Thr227Pro)
1g.173909810T=CA1207937000SERPINC1c.895A= (p.Thr299=)
n.546A=
c.559+2054A= (n.559+2054A=)
c.751A= (p.Thr251=)
c.1018A= (p.Thr340=)
c.976A= (p.Thr326=)
c.874A= (p.Thr292=)
c.838A= (p.Thr280=)
c.679A= (p.Thr227=)
1g.173909811G>ACA421942732SERPINC1c.894C>T (p.Gly298=)
n.545C>T
c.559+2053C>T (n.559+2053C>T)
c.750C>T (p.Gly250=)
c.1017C>T (p.Gly339=)
c.975C>T (p.Gly325=)
c.873C>T (p.Gly291=)
c.837C>T (p.Gly279=)
c.678C>T (p.Gly226=)
 ClinVar dbSNP
1g.173909811G>CCA421942733SERPINC1c.894C>G (p.Gly298=)
n.545C>G
c.559+2053C>G (n.559+2053C>G)
c.750C>G (p.Gly250=)
c.1017C>G (p.Gly339=)
c.975C>G (p.Gly325=)
c.873C>G (p.Gly291=)
c.837C>G (p.Gly279=)
c.678C>G (p.Gly226=)
1g.173909811G>TCA421942734SERPINC1c.894C>A (p.Gly298=)
n.545C>A
c.559+2053C>A (n.559+2053C>A)
c.750C>A (p.Gly250=)
c.1017C>A (p.Gly339=)
c.975C>A (p.Gly325=)
c.873C>A (p.Gly291=)
c.837C>A (p.Gly279=)
c.678C>A (p.Gly226=)
1g.173909812C>ACA343774363SERPINC1c.893G>T (p.Gly298Val)
n.544G>T
c.559+2052G>T (n.559+2052G>T)
c.749G>T (p.Gly250Val)
c.1016G>T (p.Gly339Val)
c.974G>T (p.Gly325Val)
c.872G>T (p.Gly291Val)
c.836G>T (p.Gly279Val)
c.677G>T (p.Gly226Val)
1g.173909812C>GCA343774359SERPINC1c.893G>C (p.Gly298Ala)
n.544G>C
c.559+2052G>C (n.559+2052G>C)
c.749G>C (p.Gly250Ala)
c.1016G>C (p.Gly339Ala)
c.974G>C (p.Gly325Ala)
c.872G>C (p.Gly291Ala)
c.836G>C (p.Gly279Ala)
c.677G>C (p.Gly226Ala)
1g.173909812C>TCA343774361SERPINC1c.893G>A (p.Gly298Asp)
n.544G>A
c.559+2052G>A (n.559+2052G>A)
c.749G>A (p.Gly250Asp)
c.1016G>A (p.Gly339Asp)
c.974G>A (p.Gly325Asp)
c.872G>A (p.Gly291Asp)
c.836G>A (p.Gly279Asp)
c.677G>A (p.Gly226Asp)
 COSMIC
1g.173909813C>ACA343774365SERPINC1c.892G>T (p.Gly298Cys)
n.543G>T
c.559+2051G>T (n.559+2051G>T)
c.748G>T (p.Gly250Cys)
c.1015G>T (p.Gly339Cys)
c.973G>T (p.Gly325Cys)
c.871G>T (p.Gly291Cys)
c.835G>T (p.Gly279Cys)
c.676G>T (p.Gly226Cys)
1g.173909813C>GCA343774367SERPINC1c.892G>C (p.Gly298Arg)
n.543G>C
c.559+2051G>C (n.559+2051G>C)
c.748G>C (p.Gly250Arg)
c.1015G>C (p.Gly339Arg)
c.973G>C (p.Gly325Arg)
c.871G>C (p.Gly291Arg)
c.835G>C (p.Gly279Arg)
c.676G>C (p.Gly226Arg)
 gnomAD v4
1g.173909813C>TCA343774368SERPINC1c.892G>A (p.Gly298Ser)
n.543G>A
c.559+2051G>A (n.559+2051G>A)
c.748G>A (p.Gly250Ser)
c.1015G>A (p.Gly339Ser)
c.973G>A (p.Gly325Ser)
c.871G>A (p.Gly291Ser)
c.835G>A (p.Gly279Ser)
c.676G>A (p.Gly226Ser)
1g.173909814T>ACA343774370SERPINC1c.891A>T (p.Glu297Asp)
n.542A>T
c.559+2050A>T (n.559+2050A>T)
c.747A>T (p.Glu249Asp)
c.1014A>T (p.Glu338Asp)
c.972A>T (p.Glu324Asp)
c.870A>T (p.Glu290Asp)
c.834A>T (p.Glu278Asp)
c.675A>T (p.Glu225Asp)
1g.173909814T>CCA421942735SERPINC1c.891A>G (p.Glu297=)
n.542A>G
c.559+2050A>G (n.559+2050A>G)
c.747A>G (p.Glu249=)
c.1014A>G (p.Glu338=)
c.972A>G (p.Glu324=)
c.870A>G (p.Glu290=)
c.834A>G (p.Glu278=)
c.675A>G (p.Glu225=)
 dbSNP
1g.173909814T>GCA343774372SERPINC1c.891A>C (p.Glu297Asp)
n.542A>C
c.559+2050A>C (n.559+2050A>C)
c.747A>C (p.Glu249Asp)
c.1014A>C (p.Glu338Asp)
c.972A>C (p.Glu324Asp)
c.870A>C (p.Glu290Asp)
c.834A>C (p.Glu278Asp)
c.675A>C (p.Glu225Asp)
1g.173909814T=CA1207937001SERPINC1c.891A= (p.Glu297=)
n.542A=
c.559+2050A= (n.559+2050A=)
c.747A= (p.Glu249=)
c.1014A= (p.Glu338=)
c.972A= (p.Glu324=)
c.870A= (p.Glu290=)
c.834A= (p.Glu278=)
c.675A= (p.Glu225=)
1g.173909815T>ACA343774374SERPINC1c.890A>T (p.Glu297Val)
n.541A>T
c.559+2049A>T (n.559+2049A>T)
c.746A>T (p.Glu249Val)
c.1013A>T (p.Glu338Val)
c.971A>T (p.Glu324Val)
c.869A>T (p.Glu290Val)
c.833A>T (p.Glu278Val)
c.674A>T (p.Glu225Val)
1g.173909815T>CCA343774375SERPINC1c.890A>G (p.Glu297Gly)
n.541A>G
c.559+2049A>G (n.559+2049A>G)
c.746A>G (p.Glu249Gly)
c.1013A>G (p.Glu338Gly)
c.971A>G (p.Glu324Gly)
c.869A>G (p.Glu290Gly)
c.833A>G (p.Glu278Gly)
c.674A>G (p.Glu225Gly)
 gnomAD v4
1g.173909815T>GCA343774377SERPINC1c.890A>C (p.Glu297Ala)
n.541A>C
c.559+2049A>C (n.559+2049A>C)
c.746A>C (p.Glu249Ala)
c.1013A>C (p.Glu338Ala)
c.971A>C (p.Glu324Ala)
c.869A>C (p.Glu290Ala)
c.833A>C (p.Glu278Ala)
c.674A>C (p.Glu225Ala)
 dbSNP gnomAD v4
1g.173909815T=CA1207937002SERPINC1c.890A= (p.Glu297=)
n.541A=
c.559+2049A= (n.559+2049A=)
c.746A= (p.Glu249=)
c.1013A= (p.Glu338=)
c.971A= (p.Glu324=)
c.869A= (p.Glu290=)
c.833A= (p.Glu278=)
c.674A= (p.Glu225=)
1g.173909816C>ACA343774380SERPINC1c.889G>T (p.Glu297Ter)
n.540G>T
c.559+2048G>T (n.559+2048G>T)
c.745G>T (p.Glu249Ter)
c.1012G>T (p.Glu338Ter)
c.970G>T (p.Glu324Ter)
c.868G>T (p.Glu290Ter)
c.832G>T (p.Glu278Ter)
c.673G>T (p.Glu225Ter)
 COSMIC
1g.173909816C=CA1207937003SERPINC1c.889G= (p.Glu297=)
n.540G=
c.559+2048G= (n.559+2048G=)
c.745G= (p.Glu249=)
c.1012G= (p.Glu338=)
c.970G= (p.Glu324=)
c.868G= (p.Glu290=)
c.832G= (p.Glu278=)
c.673G= (p.Glu225=)
1g.173909816C>GCA343774381SERPINC1c.889G>C (p.Glu297Gln)
n.540G>C
c.559+2048G>C (n.559+2048G>C)
c.745G>C (p.Glu249Gln)
c.1012G>C (p.Glu338Gln)
c.970G>C (p.Glu324Gln)
c.868G>C (p.Glu290Gln)
c.832G>C (p.Glu278Gln)
c.673G>C (p.Glu225Gln)
1g.173909816C>TCA343774383SERPINC1c.889G>A (p.Glu297Lys)
n.540G>A
c.559+2048G>A (n.559+2048G>A)
c.745G>A (p.Glu249Lys)
c.1012G>A (p.Glu338Lys)
c.970G>A (p.Glu324Lys)
c.868G>A (p.Glu290Lys)
c.832G>A (p.Glu278Lys)
c.673G>A (p.Glu225Lys)
 dbSNP gnomAD v3 gnomAD v4
1g.173909817A=CA1207937004SERPINC1c.888T= (p.Ala296=)
n.539T=
c.559+2047T= (n.559+2047T=)
c.744T= (p.Ala248=)
c.1011T= (p.Ala337=)
c.969T= (p.Ala323=)
c.867T= (p.Ala289=)
c.831T= (p.Ala277=)
c.672T= (p.Ala224=)
1g.173909817A>CCA421942736SERPINC1c.888T>G (p.Ala296=)
n.539T>G
c.559+2047T>G (n.559+2047T>G)
c.744T>G (p.Ala248=)
c.1011T>G (p.Ala337=)
c.969T>G (p.Ala323=)
c.867T>G (p.Ala289=)
c.831T>G (p.Ala277=)
c.672T>G (p.Ala224=)
1g.173909817A>GCA32780362SERPINC1c.888T>C (p.Ala296=)
n.539T>C
c.559+2047T>C (n.559+2047T>C)
c.744T>C (p.Ala248=)
c.1011T>C (p.Ala337=)
c.969T>C (p.Ala323=)
c.867T>C (p.Ala289=)
c.831T>C (p.Ala277=)
c.672T>C (p.Ala224=)
 dbSNP gnomAD v4
1g.173909817A>TCA421942737SERPINC1c.888T>A (p.Ala296=)
n.539T>A
c.559+2047T>A (n.559+2047T>A)
c.744T>A (p.Ala248=)
c.1011T>A (p.Ala337=)
c.969T>A (p.Ala323=)
c.867T>A (p.Ala289=)
c.831T>A (p.Ala277=)
c.672T>A (p.Ala224=)
 dbSNP
1g.173909818G>ACA343774386SERPINC1c.887C>T (p.Ala296Val)
n.538C>T
c.559+2046C>T (n.559+2046C>T)
c.743C>T (p.Ala248Val)
c.1010C>T (p.Ala337Val)
c.968C>T (p.Ala323Val)
c.866C>T (p.Ala289Val)
c.830C>T (p.Ala277Val)
c.671C>T (p.Ala224Val)
 dbSNP
1g.173909818G>CCA343774387SERPINC1c.887C>G (p.Ala296Gly)
n.538C>G
c.559+2046C>G (n.559+2046C>G)
c.743C>G (p.Ala248Gly)
c.1010C>G (p.Ala337Gly)
c.968C>G (p.Ala323Gly)
c.866C>G (p.Ala289Gly)
c.830C>G (p.Ala277Gly)
c.671C>G (p.Ala224Gly)
1g.173909818G=CA1207937005SERPINC1c.887C= (p.Ala296=)
n.538C=
c.559+2046C= (n.559+2046C=)
c.743C= (p.Ala248=)
c.1010C= (p.Ala337=)
c.968C= (p.Ala323=)
c.866C= (p.Ala289=)
c.830C= (p.Ala277=)
c.671C= (p.Ala224=)
1g.173909818G>TCA343774384SERPINC1c.887C>A (p.Ala296Asp)
n.538C>A
c.559+2046C>A (n.559+2046C>A)
c.743C>A (p.Ala248Asp)
c.1010C>A (p.Ala337Asp)
c.968C>A (p.Ala323Asp)
c.866C>A (p.Ala289Asp)
c.830C>A (p.Ala277Asp)
c.671C>A (p.Ala224Asp)
1g.173909819C>ACA343774392SERPINC1c.886G>T (p.Ala296Ser)
n.537G>T
c.559+2045G>T (n.559+2045G>T)
c.742G>T (p.Ala248Ser)
c.1009G>T (p.Ala337Ser)
c.967G>T (p.Ala323Ser)
c.865G>T (p.Ala289Ser)
c.829G>T (p.Ala277Ser)
c.670G>T (p.Ala224Ser)
1g.173909819C=CA1143888303SERPINC1c.886G= (p.Ala296=)
n.537G=
c.559+2045G= (n.559+2045G=)
c.742G= (p.Ala248=)
c.1009G= (p.Ala337=)
c.967G= (p.Ala323=)
c.865G= (p.Ala289=)
c.829G= (p.Ala277=)
c.670G= (p.Ala224=)
1g.173909819C>GCA211882SERPINC1c.886G>C (p.Ala296Pro)
n.537G>C
c.559+2045G>C (n.559+2045G>C)
c.742G>C (p.Ala248Pro)
c.1009G>C (p.Ala337Pro)
c.967G>C (p.Ala323Pro)
c.865G>C (p.Ala289Pro)
c.829G>C (p.Ala277Pro)
c.670G>C (p.Ala224Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.173909819C>TCA343774390SERPINC1c.886G>A (p.Ala296Thr)
n.537G>A
c.559+2045G>A (n.559+2045G>A)
c.742G>A (p.Ala248Thr)
c.1009G>A (p.Ala337Thr)
c.967G>A (p.Ala323Thr)
c.865G>A (p.Ala289Thr)
c.829G>A (p.Ala277Thr)
c.670G>A (p.Ala224Thr)
1g.173909820C>ACA1251314SERPINC1c.885G>T (p.Val295=)
n.536G>T
c.559+2044G>T (n.559+2044G>T)
c.741G>T (p.Val247=)
c.1008G>T (p.Val336=)
c.966G>T (p.Val322=)
c.864G>T (p.Val288=)
c.828G>T (p.Val276=)
c.669G>T (p.Val223=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.173909820C=CA1207937006SERPINC1c.885G= (p.Val295=)
n.536G=
c.559+2044G= (n.559+2044G=)
c.741G= (p.Val247=)
c.1008G= (p.Val336=)
c.966G= (p.Val322=)
c.864G= (p.Val288=)
c.828G= (p.Val276=)
c.669G= (p.Val223=)
1g.173909820C>GCA421942738SERPINC1c.885G>C (p.Val295=)
n.536G>C
c.559+2044G>C (n.559+2044G>C)
c.741G>C (p.Val247=)
c.1008G>C (p.Val336=)
c.966G>C (p.Val322=)
c.864G>C (p.Val288=)
c.828G>C (p.Val276=)
c.669G>C (p.Val223=)
1g.173909820C>TCA421942739SERPINC1c.885G>A (p.Val295=)
n.536G>A
c.559+2044G>A (n.559+2044G>A)
c.741G>A (p.Val247=)
c.1008G>A (p.Val336=)
c.966G>A (p.Val322=)
c.864G>A (p.Val288=)
c.828G>A (p.Val276=)
c.669G>A (p.Val223=)
 dbSNP gnomAD v2 gnomAD v4
1g.173909821A=CA1207937007SERPINC1c.884T= (p.Val295=)
n.535T=
c.559+2043T= (n.559+2043T=)
c.740T= (p.Val247=)
c.1007T= (p.Val336=)
c.965T= (p.Val322=)
c.863T= (p.Val288=)
c.827T= (p.Val276=)
c.668T= (p.Val223=)
1g.173909821A>CCA343774395SERPINC1c.884T>G (p.Val295Gly)
n.535T>G
c.559+2043T>G (n.559+2043T>G)
c.740T>G (p.Val247Gly)
c.1007T>G (p.Val336Gly)
c.965T>G (p.Val322Gly)
c.863T>G (p.Val288Gly)
c.827T>G (p.Val276Gly)
c.668T>G (p.Val223Gly)
 dbSNP gnomAD v3 gnomAD v4
1g.173909821A>GCA343774397SERPINC1c.884T>C (p.Val295Ala)
n.535T>C
c.559+2043T>C (n.559+2043T>C)
c.740T>C (p.Val247Ala)
c.1007T>C (p.Val336Ala)
c.965T>C (p.Val322Ala)
c.863T>C (p.Val288Ala)
c.827T>C (p.Val276Ala)
c.668T>C (p.Val223Ala)
1g.173909821A>TCA343774398SERPINC1c.884T>A (p.Val295Glu)
n.535T>A
c.559+2043T>A (n.559+2043T>A)
c.740T>A (p.Val247Glu)
c.1007T>A (p.Val336Glu)
c.965T>A (p.Val322Glu)
c.863T>A (p.Val288Glu)
c.827T>A (p.Val276Glu)
c.668T>A (p.Val223Glu)
1g.173909822C>ACA343774399SERPINC1c.883G>T (p.Val295Leu)
n.534G>T
c.559+2042G>T (n.559+2042G>T)
c.739G>T (p.Val247Leu)
c.1006G>T (p.Val336Leu)
c.964G>T (p.Val322Leu)
c.862G>T (p.Val288Leu)
c.826G>T (p.Val276Leu)
c.667G>T (p.Val223Leu)
1g.173909822C=CA1143479504SERPINC1c.883G= (p.Val295=)
n.534G=
c.559+2042G= (n.559+2042G=)
c.739G= (p.Val247=)
c.1006G= (p.Val336=)
c.964G= (p.Val322=)
c.862G= (p.Val288=)
c.826G= (p.Val276=)
c.667G= (p.Val223=)
1g.173909822C>GCA343774401SERPINC1c.883G>C (p.Val295Leu)
n.534G>C
c.559+2042G>C (n.559+2042G>C)
c.739G>C (p.Val247Leu)
c.1006G>C (p.Val336Leu)
c.964G>C (p.Val322Leu)
c.862G>C (p.Val288Leu)
c.826G>C (p.Val276Leu)
c.667G>C (p.Val223Leu)
1g.173909822C>TCA1251315SERPINC1c.883G>A (p.Val295Met)
n.534G>A
c.559+2042G>A (n.559+2042G>A)
c.739G>A (p.Val247Met)
c.1006G>A (p.Val336Met)
c.964G>A (p.Val322Met)
c.862G>A (p.Val288Met)
c.826G>A (p.Val276Met)
c.667G>A (p.Val223Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.173909823G>ACA1251316SERPINC1c.882C>T (p.Arg294=)
n.533C>T
c.559+2041C>T (n.559+2041C>T)
c.738C>T (p.Arg246=)
c.1005C>T (p.Arg335=)
c.963C>T (p.Arg321=)
c.861C>T (p.Arg287=)
c.825C>T (p.Arg275=)
c.666C>T (p.Arg222=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.173909823G>CCA421942740SERPINC1c.882C>G (p.Arg294=)
n.533C>G
c.559+2041C>G (n.559+2041C>G)
c.738C>G (p.Arg246=)
c.1005C>G (p.Arg335=)
c.963C>G (p.Arg321=)
c.861C>G (p.Arg287=)
c.825C>G (p.Arg275=)
c.666C>G (p.Arg222=)
 ClinVar dbSNP
1g.173909823G=CA1142705163SERPINC1c.882C= (p.Arg294=)
n.533C=
c.559+2041C= (n.559+2041C=)
c.738C= (p.Arg246=)
c.1005C= (p.Arg335=)
c.963C= (p.Arg321=)
c.861C= (p.Arg287=)
c.825C= (p.Arg275=)
c.666C= (p.Arg222=)
1g.173909823G>TCA421942741SERPINC1c.882C>A (p.Arg294=)
n.533C>A
c.559+2041C>A (n.559+2041C>A)
c.738C>A (p.Arg246=)
c.1005C>A (p.Arg335=)
c.963C>A (p.Arg321=)
c.861C>A (p.Arg287=)
c.825C>A (p.Arg275=)
c.666C>A (p.Arg222=)
 gnomAD v4
1g.173909824C>ACA233134SERPINC1c.881G>T (p.Arg294Leu)
n.532G>T
c.559+2040G>T (n.559+2040G>T)
c.737G>T (p.Arg246Leu)
c.1004G>T (p.Arg335Leu)
c.962G>T (p.Arg321Leu)
c.860G>T (p.Arg287Leu)
c.824G>T (p.Arg275Leu)
c.665G>T (p.Arg222Leu)
 ClinVar dbSNP
1g.173909824C=CA1148224791SERPINC1c.881G= (p.Arg294=)
n.532G=
c.559+2040G= (n.559+2040G=)
c.737G= (p.Arg246=)
c.1004G= (p.Arg335=)
c.962G= (p.Arg321=)
c.860G= (p.Arg287=)
c.824G= (p.Arg275=)
c.665G= (p.Arg222=)
1g.173909824C>GCA343774406SERPINC1c.881G>C (p.Arg294Pro)
n.532G>C
c.559+2040G>C (n.559+2040G>C)
c.737G>C (p.Arg246Pro)
c.1004G>C (p.Arg335Pro)
c.962G>C (p.Arg321Pro)
c.860G>C (p.Arg287Pro)
c.824G>C (p.Arg275Pro)
c.665G>C (p.Arg222Pro)
1g.173909824C>TCA233131SERPINC1c.881G>A (p.Arg294His)
n.532G>A
c.559+2040G>A (n.559+2040G>A)
c.737G>A (p.Arg246His)
c.1004G>A (p.Arg335His)
c.962G>A (p.Arg321His)
c.860G>A (p.Arg287His)
c.824G>A (p.Arg275His)
c.665G>A (p.Arg222His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.173909825G>ACA1251317SERPINC1c.880C>T (p.Arg294Cys)
n.531C>T
c.559+2039C>T (n.559+2039C>T)
c.736C>T (p.Arg246Cys)
c.1003C>T (p.Arg335Cys)
c.961C>T (p.Arg321Cys)
c.859C>T (p.Arg287Cys)
c.823C>T (p.Arg275Cys)
c.664C>T (p.Arg222Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.173909825G>CCA343774409SERPINC1c.880C>G (p.Arg294Gly)
n.531C>G
c.559+2039C>G (n.559+2039C>G)
c.736C>G (p.Arg246Gly)
c.1003C>G (p.Arg335Gly)
c.961C>G (p.Arg321Gly)
c.859C>G (p.Arg287Gly)
c.823C>G (p.Arg275Gly)
c.664C>G (p.Arg222Gly)
1g.173909825G=CA1148439462SERPINC1c.880C= (p.Arg294=)
n.531C=
c.559+2039C= (n.559+2039C=)
c.736C= (p.Arg246=)
c.1003C= (p.Arg335=)
c.961C= (p.Arg321=)
c.859C= (p.Arg287=)
c.823C= (p.Arg275=)
c.664C= (p.Arg222=)
1g.173909825G>TCA343774410SERPINC1c.880C>A (p.Arg294Ser)
n.531C>A
c.559+2039C>A (n.559+2039C>A)
c.736C>A (p.Arg246Ser)
c.1003C>A (p.Arg335Ser)
c.961C>A (p.Arg321Ser)
c.859C>A (p.Arg287Ser)
c.823C>A (p.Arg275Ser)
c.664C>A (p.Arg222Ser)
1g.173909826C>ACA421942742SERPINC1c.879G>T (p.Arg293=)
n.530G>T
c.559+2038G>T (n.559+2038G>T)
c.735G>T (p.Arg245=)
c.1002G>T (p.Arg334=)
c.960G>T (p.Arg320=)
c.858G>T (p.Arg286=)
c.822G>T (p.Arg274=)
c.663G>T (p.Arg221=)
1g.173909826C>GCA421942743SERPINC1c.879G>C (p.Arg293=)
n.530G>C
c.559+2038G>C (n.559+2038G>C)
c.735G>C (p.Arg245=)
c.1002G>C (p.Arg334=)
c.960G>C (p.Arg320=)
c.858G>C (p.Arg286=)
c.822G>C (p.Arg274=)
c.663G>C (p.Arg221=)
1g.173909826C>TCA421942744SERPINC1c.879G>A (p.Arg293=)
n.530G>A
c.559+2038G>A (n.559+2038G>A)
c.735G>A (p.Arg245=)
c.1002G>A (p.Arg334=)
c.960G>A (p.Arg320=)
c.858G>A (p.Arg286=)
c.822G>A (p.Arg274=)
c.663G>A (p.Arg221=)
1g.173909827C>ACA343774413SERPINC1c.878G>T (p.Arg293Leu)
n.529G>T
c.559+2037G>T (n.559+2037G>T)
c.734G>T (p.Arg245Leu)
c.1001G>T (p.Arg334Leu)
c.959G>T (p.Arg320Leu)
c.857G>T (p.Arg286Leu)
c.821G>T (p.Arg274Leu)
c.662G>T (p.Arg221Leu)
1g.173909827C=CA1147668561SERPINC1c.878G= (p.Arg293=)
n.529G=
c.559+2037G= (n.559+2037G=)
c.734G= (p.Arg245=)
c.1001G= (p.Arg334=)
c.959G= (p.Arg320=)
c.857G= (p.Arg286=)
c.821G= (p.Arg274=)
c.662G= (p.Arg221=)
1g.173909827C>GCA343774415SERPINC1c.878G>C (p.Arg293Pro)
n.529G>C
c.559+2037G>C (n.559+2037G>C)
c.734G>C (p.Arg245Pro)
c.1001G>C (p.Arg334Pro)
c.959G>C (p.Arg320Pro)
c.857G>C (p.Arg286Pro)
c.821G>C (p.Arg274Pro)
c.662G>C (p.Arg221Pro)
1g.173909827C>TCA1251318SERPINC1c.878G>A (p.Arg293Gln)
n.529G>A
c.559+2037G>A (n.559+2037G>A)
c.734G>A (p.Arg245Gln)
c.1001G>A (p.Arg334Gln)
c.959G>A (p.Arg320Gln)
c.857G>A (p.Arg286Gln)
c.821G>A (p.Arg274Gln)
c.662G>A (p.Arg221Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.173909828G>ACA1251319SERPINC1c.877C>T (p.Arg293Trp)
n.528C>T
c.559+2036C>T (n.559+2036C>T)
c.733C>T (p.Arg245Trp)
c.1000C>T (p.Arg334Trp)
c.958C>T (p.Arg320Trp)
c.856C>T (p.Arg286Trp)
c.820C>T (p.Arg274Trp)
c.661C>T (p.Arg221Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.173909828G>CCA343774418SERPINC1c.877C>G (p.Arg293Gly)
n.528C>G
c.559+2036C>G (n.559+2036C>G)
c.733C>G (p.Arg245Gly)
c.1000C>G (p.Arg334Gly)
c.958C>G (p.Arg320Gly)
c.856C>G (p.Arg286Gly)
c.820C>G (p.Arg274Gly)
c.661C>G (p.Arg221Gly)
 dbSNP
1g.173909828G=CA1207937008SERPINC1c.877C= (p.Arg293=)
n.528C=
c.559+2036C= (n.559+2036C=)
c.733C= (p.Arg245=)
c.1000C= (p.Arg334=)
c.958C= (p.Arg320=)
c.856C= (p.Arg286=)
c.820C= (p.Arg274=)
c.661C= (p.Arg221=)
1g.173909828G>TCA421942745SERPINC1c.877C>A (p.Arg293=)
n.528C>A
c.559+2036C>A (n.559+2036C>A)
c.733C>A (p.Arg245=)
c.1000C>A (p.Arg334=)
c.958C>A (p.Arg320=)
c.856C>A (p.Arg286=)
c.820C>A (p.Arg274=)
c.661C>A (p.Arg221=)
 dbSNP gnomAD v2 gnomAD v4
1g.173909829A=CA1207937009SERPINC1c.876T= (p.Tyr292=)
n.527T=
c.559+2035T= (n.559+2035T=)
c.732T= (p.Tyr244=)
c.999T= (p.Tyr333=)
c.957T= (p.Tyr319=)
c.855T= (p.Tyr285=)
c.819T= (p.Tyr273=)
c.660T= (p.Tyr220=)
1g.173909829A>CCA343774420SERPINC1c.876T>G (p.Tyr292Ter)
n.527T>G
c.559+2035T>G (n.559+2035T>G)
c.732T>G (p.Tyr244Ter)
c.999T>G (p.Tyr333Ter)
c.957T>G (p.Tyr319Ter)
c.855T>G (p.Tyr285Ter)
c.819T>G (p.Tyr273Ter)
c.660T>G (p.Tyr220Ter)
1g.173909829A>GCA421942746SERPINC1c.876T>C (p.Tyr292=)
n.527T>C
c.559+2035T>C (n.559+2035T>C)
c.732T>C (p.Tyr244=)
c.999T>C (p.Tyr333=)
c.957T>C (p.Tyr319=)
c.855T>C (p.Tyr285=)
c.819T>C (p.Tyr273=)
c.660T>C (p.Tyr220=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.173909829A>TCA343774422SERPINC1c.876T>A (p.Tyr292Ter)
n.527T>A
c.559+2035T>A (n.559+2035T>A)
c.732T>A (p.Tyr244Ter)
c.999T>A (p.Tyr333Ter)
c.957T>A (p.Tyr319Ter)
c.855T>A (p.Tyr285Ter)
c.819T>A (p.Tyr273Ter)
c.660T>A (p.Tyr220Ter)
1g.173909830T>ACA1251320SERPINC1c.875A>T (p.Tyr292Phe)
n.526A>T
c.559+2034A>T (n.559+2034A>T)
c.731A>T (p.Tyr244Phe)
c.998A>T (p.Tyr333Phe)
c.956A>T (p.Tyr319Phe)
c.854A>T (p.Tyr285Phe)
c.818A>T (p.Tyr273Phe)
c.659A>T (p.Tyr220Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.173909830T>CCA343774424SERPINC1c.875A>G (p.Tyr292Cys)
n.526A>G
c.559+2034A>G (n.559+2034A>G)
c.731A>G (p.Tyr244Cys)
c.998A>G (p.Tyr333Cys)
c.956A>G (p.Tyr319Cys)
c.854A>G (p.Tyr285Cys)
c.818A>G (p.Tyr273Cys)
c.659A>G (p.Tyr220Cys)
1g.173909830T>GCA343774426SERPINC1c.875A>C (p.Tyr292Ser)
n.526A>C
c.559+2034A>C (n.559+2034A>C)
c.731A>C (p.Tyr244Ser)
c.998A>C (p.Tyr333Ser)
c.956A>C (p.Tyr319Ser)
c.854A>C (p.Tyr285Ser)
c.818A>C (p.Tyr273Ser)
c.659A>C (p.Tyr220Ser)
1g.173909830T=CA1207937010SERPINC1c.875A= (p.Tyr292=)
n.526A=
c.559+2034A= (n.559+2034A=)
c.731A= (p.Tyr244=)
c.998A= (p.Tyr333=)
c.956A= (p.Tyr319=)
c.854A= (p.Tyr285=)
c.818A= (p.Tyr273=)
c.659A= (p.Tyr220=)
1g.173909831A=CA1207937011SERPINC1c.874T= (p.Tyr292=)
n.525T=
c.559+2033T= (n.559+2033T=)
c.730T= (p.Tyr244=)
c.997T= (p.Tyr333=)
c.955T= (p.Tyr319=)
c.853T= (p.Tyr285=)
c.817T= (p.Tyr273=)
c.658T= (p.Tyr220=)
1g.173909831A>CCA343774428SERPINC1c.874T>G (p.Tyr292Asp)
n.525T>G
c.559+2033T>G (n.559+2033T>G)
c.730T>G (p.Tyr244Asp)
c.997T>G (p.Tyr333Asp)
c.955T>G (p.Tyr319Asp)
c.853T>G (p.Tyr285Asp)
c.817T>G (p.Tyr273Asp)
c.658T>G (p.Tyr220Asp)
1g.173909831A>GCA1251321SERPINC1c.874T>C (p.Tyr292His)
n.525T>C
c.559+2033T>C (n.559+2033T>C)
c.730T>C (p.Tyr244His)
c.997T>C (p.Tyr333His)
c.955T>C (p.Tyr319His)
c.853T>C (p.Tyr285His)
c.817T>C (p.Tyr273His)
c.658T>C (p.Tyr220His)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.173909831A>TCA343774431SERPINC1c.874T>A (p.Tyr292Asn)
n.525T>A
c.559+2033T>A (n.559+2033T>A)
c.730T>A (p.Tyr244Asn)
c.997T>A (p.Tyr333Asn)
c.955T>A (p.Tyr319Asn)
c.853T>A (p.Tyr285Asn)
c.817T>A (p.Tyr273Asn)
c.658T>A (p.Tyr220Asn)
1g.173909832A=CA1207937012SERPINC1c.873T= (p.Arg291=)
n.524T=
c.559+2032T= (n.559+2032T=)
c.729T= (p.Arg243=)
c.996T= (p.Arg332=)
c.954T= (p.Arg318=)
c.852T= (p.Arg284=)
c.816T= (p.Arg272=)
c.657T= (p.Arg219=)
1g.173909832A>CCA421942747SERPINC1c.873T>G (p.Arg291=)
n.524T>G
c.559+2032T>G (n.559+2032T>G)
c.729T>G (p.Arg243=)
c.996T>G (p.Arg332=)
c.954T>G (p.Arg318=)
c.852T>G (p.Arg284=)
c.816T>G (p.Arg272=)
c.657T>G (p.Arg219=)
1g.173909832A>GCA1251322SERPINC1c.873T>C (p.Arg291=)
n.524T>C
c.559+2032T>C (n.559+2032T>C)
c.729T>C (p.Arg243=)
c.996T>C (p.Arg332=)
c.954T>C (p.Arg318=)
c.852T>C (p.Arg284=)
c.816T>C (p.Arg272=)
c.657T>C (p.Arg219=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.173909832A>TCA421942748SERPINC1c.873T>A (p.Arg291=)
n.524T>A
c.559+2032T>A (n.559+2032T>A)
c.729T>A (p.Arg243=)
c.996T>A (p.Arg332=)
c.954T>A (p.Arg318=)
c.852T>A (p.Arg284=)
c.816T>A (p.Arg272=)
c.657T>A (p.Arg219=)
 dbSNP
1g.173909833C>ACA343774438SERPINC1c.872G>T (p.Arg291Leu)
n.523G>T
c.559+2031G>T (n.559+2031G>T)
c.728G>T (p.Arg243Leu)
c.995G>T (p.Arg332Leu)
c.953G>T (p.Arg318Leu)
c.851G>T (p.Arg284Leu)
c.815G>T (p.Arg272Leu)
c.656G>T (p.Arg219Leu)
1g.173909833C=CA1144203267SERPINC1c.872G= (p.Arg291=)
n.523G=
c.559+2031G= (n.559+2031G=)
c.728G= (p.Arg243=)
c.995G= (p.Arg332=)
c.953G= (p.Arg318=)
c.851G= (p.Arg284=)
c.815G= (p.Arg272=)
c.656G= (p.Arg219=)
1g.173909833C>GCA343774434SERPINC1c.872G>C (p.Arg291Pro)
n.523G>C
c.559+2031G>C (n.559+2031G>C)
c.728G>C (p.Arg243Pro)
c.995G>C (p.Arg332Pro)
c.953G>C (p.Arg318Pro)
c.851G>C (p.Arg284Pro)
c.815G>C (p.Arg272Pro)
c.656G>C (p.Arg219Pro)
1g.173909833C>TCA1251323SERPINC1c.872G>A (p.Arg291His)
n.523G>A
c.559+2031G>A (n.559+2031G>A)
c.728G>A (p.Arg243His)
c.995G>A (p.Arg332His)
c.953G>A (p.Arg318His)
c.851G>A (p.Arg284His)
c.815G>A (p.Arg272His)
c.656G>A (p.Arg219His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.173909834G>ACA1251324SERPINC1c.871C>T (p.Arg291Cys)
n.522C>T
c.559+2030C>T (n.559+2030C>T)
c.727C>T (p.Arg243Cys)
c.994C>T (p.Arg332Cys)
c.952C>T (p.Arg318Cys)
c.850C>T (p.Arg284Cys)
c.814C>T (p.Arg272Cys)
c.655C>T (p.Arg219Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.173909834G>CCA343774441SERPINC1c.871C>G (p.Arg291Gly)
n.522C>G
c.559+2030C>G (n.559+2030C>G)
c.727C>G (p.Arg243Gly)
c.994C>G (p.Arg332Gly)
c.952C>G (p.Arg318Gly)
c.850C>G (p.Arg284Gly)
c.814C>G (p.Arg272Gly)
c.655C>G (p.Arg219Gly)
 dbSNP gnomAD v3 gnomAD v4
1g.173909834G=CA1207937013SERPINC1c.871C= (p.Arg291=)
n.522C=
c.559+2030C= (n.559+2030C=)
c.727C= (p.Arg243=)
c.994C= (p.Arg332=)
c.952C= (p.Arg318=)
c.850C= (p.Arg284=)
c.814C= (p.Arg272=)
c.655C= (p.Arg219=)
1g.173909834G>TCA343774442SERPINC1c.871C>A (p.Arg291Ser)
n.522C>A
c.559+2030C>A (n.559+2030C>A)
c.727C>A (p.Arg243Ser)
c.994C>A (p.Arg332Ser)
c.952C>A (p.Arg318Ser)
c.850C>A (p.Arg284Ser)
c.814C>A (p.Arg272Ser)
c.655C>A (p.Arg219Ser)
 dbSNP
1g.173909835G>ACA1251325SERPINC1c.870C>T (p.Phe290=)
n.521C>T
c.559+2029C>T (n.559+2029C>T)
c.726C>T (p.Phe242=)
c.993C>T (p.Phe331=)
c.951C>T (p.Phe317=)
c.849C>T (p.Phe283=)
c.813C>T (p.Phe271=)
c.654C>T (p.Phe218=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.173909835G>CCA343774445SERPINC1c.870C>G (p.Phe290Leu)
n.521C>G
c.559+2029C>G (n.559+2029C>G)
c.726C>G (p.Phe242Leu)
c.993C>G (p.Phe331Leu)
c.951C>G (p.Phe317Leu)
c.849C>G (p.Phe283Leu)
c.813C>G (p.Phe271Leu)
c.654C>G (p.Phe218Leu)
 dbSNP gnomAD v4
1g.173909835G=CA1143713195SERPINC1c.870C= (p.Phe290=)
n.521C=
c.559+2029C= (n.559+2029C=)
c.726C= (p.Phe242=)
c.993C= (p.Phe331=)
c.951C= (p.Phe317=)
c.849C= (p.Phe283=)
c.813C= (p.Phe271=)
c.654C= (p.Phe218=)
1g.173909835G>TCA343774447SERPINC1c.870C>A (p.Phe290Leu)
n.521C>A
c.559+2029C>A (n.559+2029C>A)
c.726C>A (p.Phe242Leu)
c.993C>A (p.Phe331Leu)
c.951C>A (p.Phe317Leu)
c.849C>A (p.Phe283Leu)
c.813C>A (p.Phe271Leu)
c.654C>A (p.Phe218Leu)
 dbSNP gnomAD v4
1g.173909836A>CCA343774449SERPINC1c.869T>G (p.Phe290Cys)
n.520T>G
c.559+2028T>G (n.559+2028T>G)
c.725T>G (p.Phe242Cys)
c.992T>G (p.Phe331Cys)
c.950T>G (p.Phe317Cys)
c.848T>G (p.Phe283Cys)
c.812T>G (p.Phe271Cys)
c.653T>G (p.Phe218Cys)
1g.173909836A>GCA343774451SERPINC1c.869T>C (p.Phe290Ser)
n.520T>C
c.559+2028T>C (n.559+2028T>C)
c.725T>C (p.Phe242Ser)
c.992T>C (p.Phe331Ser)
c.950T>C (p.Phe317Ser)
c.848T>C (p.Phe283Ser)
c.812T>C (p.Phe271Ser)
c.653T>C (p.Phe218Ser)
1g.173909836A>TCA343774452SERPINC1c.869T>A (p.Phe290Tyr)
n.520T>A
c.559+2028T>A (n.559+2028T>A)
c.725T>A (p.Phe242Tyr)
c.992T>A (p.Phe331Tyr)
c.950T>A (p.Phe317Tyr)
c.848T>A (p.Phe283Tyr)
c.812T>A (p.Phe271Tyr)
c.653T>A (p.Phe218Tyr)
1g.173909837A=CA1207937014SERPINC1c.868T= (p.Phe290=)
n.519T=
c.559+2027T= (n.559+2027T=)
c.724T= (p.Phe242=)
c.991T= (p.Phe331=)
c.949T= (p.Phe317=)
c.847T= (p.Phe283=)
c.811T= (p.Phe271=)
c.652T= (p.Phe218=)
1g.173909837A>CCA343774455SERPINC1c.868T>G (p.Phe290Val)
n.519T>G
c.559+2027T>G (n.559+2027T>G)
c.724T>G (p.Phe242Val)
c.991T>G (p.Phe331Val)
c.949T>G (p.Phe317Val)
c.847T>G (p.Phe283Val)
c.811T>G (p.Phe271Val)
c.652T>G (p.Phe218Val)
1g.173909837A>GCA343774457SERPINC1c.868T>C (p.Phe290Leu)
n.519T>C
c.559+2027T>C (n.559+2027T>C)
c.724T>C (p.Phe242Leu)
c.991T>C (p.Phe331Leu)
c.949T>C (p.Phe317Leu)
c.847T>C (p.Phe283Leu)
c.811T>C (p.Phe271Leu)
c.652T>C (p.Phe218Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.173909837A>TCA343774459SERPINC1c.868T>A (p.Phe290Ile)
n.519T>A
c.559+2027T>A (n.559+2027T>A)
c.724T>A (p.Phe242Ile)
c.991T>A (p.Phe331Ile)
c.949T>A (p.Phe317Ile)
c.847T>A (p.Phe283Ile)
c.811T>A (p.Phe271Ile)
c.652T>A (p.Phe218Ile)
1g.173909838C>ACA343774461SERPINC1c.867G>T (p.Lys289Asn)
n.518G>T
c.559+2026G>T (n.559+2026G>T)
c.723G>T (p.Lys241Asn)
c.990G>T (p.Lys330Asn)
c.948G>T (p.Lys316Asn)
c.846G>T (p.Lys282Asn)
c.810G>T (p.Lys270Asn)
c.651G>T (p.Lys217Asn)
 gnomAD v4
1g.173909838C=CA1207937015SERPINC1c.867G= (p.Lys289=)
n.518G=
c.559+2026G= (n.559+2026G=)
c.723G= (p.Lys241=)
c.990G= (p.Lys330=)
c.948G= (p.Lys316=)
c.846G= (p.Lys282=)
c.810G= (p.Lys270=)
c.651G= (p.Lys217=)
1g.173909838C>GCA343774463SERPINC1c.867G>C (p.Lys289Asn)
n.518G>C
c.559+2026G>C (n.559+2026G>C)
c.723G>C (p.Lys241Asn)
c.990G>C (p.Lys330Asn)
c.948G>C (p.Lys316Asn)
c.846G>C (p.Lys282Asn)
c.810G>C (p.Lys270Asn)
c.651G>C (p.Lys217Asn)
1g.173909838C>TCA32780413SERPINC1c.867G>A (p.Lys289=)
n.518G>A
c.559+2026G>A (n.559+2026G>A)
c.723G>A (p.Lys241=)
c.990G>A (p.Lys330=)
c.948G>A (p.Lys316=)
c.846G>A (p.Lys282=)
c.810G>A (p.Lys270=)
c.651G>A (p.Lys217=)
 dbSNP gnomAD v4
1g.173909839T>ACA343774464SERPINC1c.866A>T (p.Lys289Met)
n.517A>T
c.559+2025A>T (n.559+2025A>T)
c.722A>T (p.Lys241Met)
c.989A>T (p.Lys330Met)
c.947A>T (p.Lys316Met)
c.845A>T (p.Lys282Met)
c.809A>T (p.Lys270Met)
c.650A>T (p.Lys217Met)
1g.173909839T>CCA343774466SERPINC1c.866A>G (p.Lys289Arg)
n.517A>G
c.559+2025A>G (n.559+2025A>G)
c.722A>G (p.Lys241Arg)
c.989A>G (p.Lys330Arg)
c.947A>G (p.Lys316Arg)
c.845A>G (p.Lys282Arg)
c.809A>G (p.Lys270Arg)
c.650A>G (p.Lys217Arg)
1g.173909839T>GCA343774468SERPINC1c.866A>C (p.Lys289Thr)
n.517A>C
c.559+2025A>C (n.559+2025A>C)
c.722A>C (p.Lys241Thr)
c.989A>C (p.Lys330Thr)
c.947A>C (p.Lys316Thr)
c.845A>C (p.Lys282Thr)
c.809A>C (p.Lys270Thr)
c.650A>C (p.Lys217Thr)
1g.173909840T>ACA343774470SERPINC1c.865A>T (p.Lys289Ter)
n.516A>T
c.559+2024A>T (n.559+2024A>T)
c.721A>T (p.Lys241Ter)
c.988A>T (p.Lys330Ter)
c.946A>T (p.Lys316Ter)
c.844A>T (p.Lys282Ter)
c.808A>T (p.Lys270Ter)
c.649A>T (p.Lys217Ter)
1g.173909840T>CCA343774472SERPINC1c.865A>G (p.Lys289Glu)
n.516A>G
c.559+2024A>G (n.559+2024A>G)
c.721A>G (p.Lys241Glu)
c.988A>G (p.Lys330Glu)
c.946A>G (p.Lys316Glu)
c.844A>G (p.Lys282Glu)
c.808A>G (p.Lys270Glu)
c.649A>G (p.Lys217Glu)
1g.173909840T>GCA343774474SERPINC1c.865A>C (p.Lys289Gln)
n.516A>C
c.559+2024A>C (n.559+2024A>C)
c.721A>C (p.Lys241Gln)
c.988A>C (p.Lys330Gln)
c.946A>C (p.Lys316Gln)
c.844A>C (p.Lys282Gln)
c.808A>C (p.Lys270Gln)
c.649A>C (p.Lys217Gln)
 gnomAD v4
1g.173909841G>ACA421942749SERPINC1c.864C>T (p.Gly288=)
n.515C>T
c.559+2023C>T (n.559+2023C>T)
c.720C>T (p.Gly240=)
c.987C>T (p.Gly329=)
c.945C>T (p.Gly315=)
c.843C>T (p.Gly281=)
c.807C>T (p.Gly269=)
c.648C>T (p.Gly216=)
 dbSNP
1g.173909841G>CCA1251326SERPINC1c.864C>G (p.Gly288=)
n.515C>G
c.559+2023C>G (n.559+2023C>G)
c.720C>G (p.Gly240=)
c.987C>G (p.Gly329=)
c.945C>G (p.Gly315=)
c.843C>G (p.Gly281=)
c.807C>G (p.Gly269=)
c.648C>G (p.Gly216=)
 dbSNP ExAC gnomAD v4
1g.173909841G=CA1207937016SERPINC1c.864C= (p.Gly288=)
n.515C=
c.559+2023C= (n.559+2023C=)
c.720C= (p.Gly240=)
c.987C= (p.Gly329=)
c.945C= (p.Gly315=)
c.843C= (p.Gly281=)
c.807C= (p.Gly269=)
c.648C= (p.Gly216=)
1g.173909841G>TCA421942750SERPINC1c.864C>A (p.Gly288=)
n.515C>A
c.559+2023C>A (n.559+2023C>A)
c.720C>A (p.Gly240=)
c.987C>A (p.Gly329=)
c.945C>A (p.Gly315=)
c.843C>A (p.Gly281=)
c.807C>A (p.Gly269=)
c.648C>A (p.Gly216=)
1g.173909842C>ACA343774477SERPINC1c.863G>T (p.Gly288Val)
n.514G>T
c.559+2022G>T (n.559+2022G>T)
c.719G>T (p.Gly240Val)
c.986G>T (p.Gly329Val)
c.944G>T (p.Gly315Val)
c.842G>T (p.Gly281Val)
c.806G>T (p.Gly269Val)
c.647G>T (p.Gly216Val)
1g.173909842C=CA1207937017SERPINC1c.863G= (p.Gly288=)
n.514G=
c.559+2022G= (n.559+2022G=)
c.719G= (p.Gly240=)
c.986G= (p.Gly329=)
c.944G= (p.Gly315=)
c.842G= (p.Gly281=)
c.806G= (p.Gly269=)
c.647G= (p.Gly216=)
1g.173909842C>GCA343774479SERPINC1c.863G>C (p.Gly288Ala)
n.514G>C
c.559+2022G>C (n.559+2022G>C)
c.719G>C (p.Gly240Ala)
c.986G>C (p.Gly329Ala)
c.944G>C (p.Gly315Ala)
c.842G>C (p.Gly281Ala)
c.806G>C (p.Gly269Ala)
c.647G>C (p.Gly216Ala)
1g.173909842C>TCA343774481SERPINC1c.863G>A (p.Gly288Asp)
n.514G>A
c.559+2022G>A (n.559+2022G>A)
c.719G>A (p.Gly240Asp)
c.986G>A (p.Gly329Asp)
c.944G>A (p.Gly315Asp)
c.842G>A (p.Gly281Asp)
c.806G>A (p.Gly269Asp)
c.647G>A (p.Gly216Asp)
 dbSNP gnomAD v4
1g.173909843C>ACA343774482SERPINC1c.862G>T (p.Gly288Cys)
n.513G>T
c.559+2021G>T (n.559+2021G>T)
c.718G>T (p.Gly240Cys)
c.985G>T (p.Gly329Cys)
c.943G>T (p.Gly315Cys)
c.841G>T (p.Gly281Cys)
c.805G>T (p.Gly269Cys)
c.646G>T (p.Gly216Cys)
1g.173909843C>GCA343774484SERPINC1c.862G>C (p.Gly288Arg)
n.513G>C
c.559+2021G>C (n.559+2021G>C)
c.718G>C (p.Gly240Arg)
c.985G>C (p.Gly329Arg)
c.943G>C (p.Gly315Arg)
c.841G>C (p.Gly281Arg)
c.805G>C (p.Gly269Arg)
c.646G>C (p.Gly216Arg)
1g.173909843C>TCA343774486SERPINC1c.862G>A (p.Gly288Ser)
n.513G>A
c.559+2021G>A (n.559+2021G>A)
c.718G>A (p.Gly240Ser)
c.985G>A (p.Gly329Ser)
c.943G>A (p.Gly315Ser)
c.841G>A (p.Gly281Ser)
c.805G>A (p.Gly269Ser)
c.646G>A (p.Gly216Ser)
 gnomAD v4 COSMIC
1g.173909844T>ACA343774490SERPINC1c.861A>T (p.Glu287Asp)
n.512A>T
c.559+2020A>T (n.559+2020A>T)
c.717A>T (p.Glu239Asp)
c.984A>T (p.Glu328Asp)
c.942A>T (p.Glu314Asp)
c.840A>T (p.Glu280Asp)
c.804A>T (p.Glu268Asp)
c.645A>T (p.Glu215Asp)
1g.173909844T>CCA421942751SERPINC1c.861A>G (p.Glu287=)
n.512A>G
c.559+2020A>G (n.559+2020A>G)
c.717A>G (p.Glu239=)
c.984A>G (p.Glu328=)
c.942A>G (p.Glu314=)
c.840A>G (p.Glu280=)
c.804A>G (p.Glu268=)
c.645A>G (p.Glu215=)
 gnomAD v4
1g.173909844T>GCA343774488SERPINC1c.861A>C (p.Glu287Asp)
n.512A>C
c.559+2020A>C (n.559+2020A>C)
c.717A>C (p.Glu239Asp)
c.984A>C (p.Glu328Asp)
c.942A>C (p.Glu314Asp)
c.840A>C (p.Glu280Asp)
c.804A>C (p.Glu268Asp)
c.645A>C (p.Glu215Asp)
1g.173909845T>ACA343774492SERPINC1c.860A>T (p.Glu287Val)
n.511A>T
c.559+2019A>T (n.559+2019A>T)
c.716A>T (p.Glu239Val)
c.983A>T (p.Glu328Val)
c.941A>T (p.Glu314Val)
c.839A>T (p.Glu280Val)
c.803A>T (p.Glu268Val)
c.644A>T (p.Glu215Val)
 ClinVar dbSNP
1g.173909845T>CCA343774496SERPINC1c.860A>G (p.Glu287Gly)
n.511A>G
c.559+2019A>G (n.559+2019A>G)
c.716A>G (p.Glu239Gly)
c.983A>G (p.Glu328Gly)
c.941A>G (p.Glu314Gly)
c.839A>G (p.Glu280Gly)
c.803A>G (p.Glu268Gly)
c.644A>G (p.Glu215Gly)
 dbSNP gnomAD v2 gnomAD v4
1g.173909845T>GCA343774494SERPINC1c.860A>C (p.Glu287Ala)
n.511A>C
c.559+2019A>C (n.559+2019A>C)
c.716A>C (p.Glu239Ala)
c.983A>C (p.Glu328Ala)
c.941A>C (p.Glu314Ala)
c.839A>C (p.Glu280Ala)
c.803A>C (p.Glu268Ala)
c.644A>C (p.Glu215Ala)
1g.173909845T=CA1207937018SERPINC1c.860A= (p.Glu287=)
n.511A=
c.559+2019A= (n.559+2019A=)
c.716A= (p.Glu239=)
c.983A= (p.Glu328=)
c.941A= (p.Glu314=)
c.839A= (p.Glu280=)
c.803A= (p.Glu268=)
c.644A= (p.Glu215=)
1g.173909846C>ACA343774498SERPINC1c.859G>T (p.Glu287Ter)
n.510G>T
c.559+2018G>T (n.559+2018G>T)
c.715G>T (p.Glu239Ter)
c.982G>T (p.Glu328Ter)
c.940G>T (p.Glu314Ter)
c.838G>T (p.Glu280Ter)
c.802G>T (p.Glu268Ter)
c.643G>T (p.Glu215Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.173909846C=CA1207937019SERPINC1c.859G= (p.Glu287=)
n.510G=
c.559+2018G= (n.559+2018G=)
c.715G= (p.Glu239=)
c.982G= (p.Glu328=)
c.940G= (p.Glu314=)
c.838G= (p.Glu280=)
c.802G= (p.Glu268=)
c.643G= (p.Glu215=)
1g.173909846C>GCA343774502SERPINC1c.859G>C (p.Glu287Gln)
n.510G>C
c.559+2018G>C (n.559+2018G>C)
c.715G>C (p.Glu239Gln)
c.982G>C (p.Glu328Gln)
c.940G>C (p.Glu314Gln)
c.838G>C (p.Glu280Gln)
c.802G>C (p.Glu268Gln)
c.643G>C (p.Glu215Gln)
1g.173909846C>TCA343774499SERPINC1c.859G>A (p.Glu287Lys)
n.510G>A
c.559+2018G>A (n.559+2018G>A)
c.715G>A (p.Glu239Lys)
c.982G>A (p.Glu328Lys)
c.940G>A (p.Glu314Lys)
c.838G>A (p.Glu280Lys)
c.802G>A (p.Glu268Lys)
c.643G>A (p.Glu215Lys)
 COSMIC
1g.173909847C>ACA343774504SERPINC1c.858G>T (p.Gln286His)
n.509G>T
c.559+2017G>T (n.559+2017G>T)
c.714G>T (p.Gln238His)
c.981G>T (p.Gln327His)
c.939G>T (p.Gln313His)
c.837G>T (p.Gln279His)
c.801G>T (p.Gln267His)
c.642G>T (p.Gln214His)
1g.173909847C=CA1141682755SERPINC1c.858G= (p.Gln286=)
n.509G=
c.559+2017G= (n.559+2017G=)
c.714G= (p.Gln238=)
c.981G= (p.Gln327=)
c.939G= (p.Gln313=)
c.837G= (p.Gln279=)
c.801G= (p.Gln267=)
c.642G= (p.Gln214=)
1g.173909847C>GCA1251327SERPINC1c.858G>C (p.Gln286His)
n.509G>C
c.559+2017G>C (n.559+2017G>C)
c.714G>C (p.Gln238His)
c.981G>C (p.Gln327His)
c.939G>C (p.Gln313His)
c.837G>C (p.Gln279His)
c.801G>C (p.Gln267His)
c.642G>C (p.Gln214His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.173909847C>TCA421942752SERPINC1c.858G>A (p.Gln286=)
n.509G>A
c.559+2017G>A (n.559+2017G>A)
c.714G>A (p.Gln238=)
c.981G>A (p.Gln327=)
c.939G>A (p.Gln313=)
c.837G>A (p.Gln279=)
c.801G>A (p.Gln267=)
c.642G>A (p.Gln214=)
1g.173909848T>ACA343774507SERPINC1c.857A>T (p.Gln286Leu)
n.508A>T
c.559+2016A>T (n.559+2016A>T)
c.713A>T (p.Gln238Leu)
c.980A>T (p.Gln327Leu)
c.938A>T (p.Gln313Leu)
c.836A>T (p.Gln279Leu)
c.800A>T (p.Gln267Leu)
c.641A>T (p.Gln214Leu)
1g.173909848T>CCA343774508SERPINC1c.857A>G (p.Gln286Arg)
n.508A>G
c.559+2016A>G (n.559+2016A>G)
c.713A>G (p.Gln238Arg)
c.980A>G (p.Gln327Arg)
c.938A>G (p.Gln313Arg)
c.836A>G (p.Gln279Arg)
c.800A>G (p.Gln267Arg)
c.641A>G (p.Gln214Arg)
1g.173909848T>GCA343774510SERPINC1c.857A>C (p.Gln286Pro)
n.508A>C
c.559+2016A>C (n.559+2016A>C)
c.713A>C (p.Gln238Pro)
c.980A>C (p.Gln327Pro)
c.938A>C (p.Gln313Pro)
c.836A>C (p.Gln279Pro)
c.800A>C (p.Gln267Pro)
c.641A>C (p.Gln214Pro)
1g.173909849G>ACA343774512SERPINC1c.856C>T (p.Gln286Ter)
n.507C>T
c.559+2015C>T (n.559+2015C>T)
c.712C>T (p.Gln238Ter)
c.979C>T (p.Gln327Ter)
c.937C>T (p.Gln313Ter)
c.835C>T (p.Gln279Ter)
c.799C>T (p.Gln267Ter)
c.640C>T (p.Gln214Ter)
1g.173909849G>CCA343774514SERPINC1c.856C>G (p.Gln286Glu)
n.507C>G
c.559+2015C>G (n.559+2015C>G)
c.712C>G (p.Gln238Glu)
c.979C>G (p.Gln327Glu)
c.937C>G (p.Gln313Glu)
c.835C>G (p.Gln279Glu)
c.799C>G (p.Gln267Glu)
c.640C>G (p.Gln214Glu)
 gnomAD v4
1g.173909849G>TCA343774515SERPINC1c.856C>A (p.Gln286Lys)
n.507C>A
c.559+2015C>A (n.559+2015C>A)
c.712C>A (p.Gln238Lys)
c.979C>A (p.Gln327Lys)
c.937C>A (p.Gln313Lys)
c.835C>A (p.Gln279Lys)
c.799C>A (p.Gln267Lys)
c.640C>A (p.Gln214Lys)
1g.173909850G>ACA421942753SERPINC1c.855C>T (p.Tyr285=)
n.506C>T
c.559+2014C>T (n.559+2014C>T)
c.711C>T (p.Tyr237=)
c.978C>T (p.Tyr326=)
c.936C>T (p.Tyr312=)
c.834C>T (p.Tyr278=)
c.798C>T (p.Tyr266=)
c.639C>T (p.Tyr213=)
1g.173909850G>CCA343774517SERPINC1c.855C>G (p.Tyr285Ter)
n.506C>G
c.559+2014C>G (n.559+2014C>G)
c.711C>G (p.Tyr237Ter)
c.978C>G (p.Tyr326Ter)
c.936C>G (p.Tyr312Ter)
c.834C>G (p.Tyr278Ter)
c.798C>G (p.Tyr266Ter)
c.639C>G (p.Tyr213Ter)
1g.173909850G>TCA343774518SERPINC1c.855C>A (p.Tyr285Ter)
n.506C>A
c.559+2014C>A (n.559+2014C>A)
c.711C>A (p.Tyr237Ter)
c.978C>A (p.Tyr326Ter)
c.936C>A (p.Tyr312Ter)
c.834C>A (p.Tyr278Ter)
c.798C>A (p.Tyr266Ter)
c.639C>A (p.Tyr213Ter)
 gnomAD v4
1g.173909851T>ACA343774524SERPINC1c.854A>T (p.Tyr285Phe)
n.505A>T
c.559+2013A>T (n.559+2013A>T)
c.710A>T (p.Tyr237Phe)
c.977A>T (p.Tyr326Phe)
c.935A>T (p.Tyr312Phe)
c.833A>T (p.Tyr278Phe)
c.797A>T (p.Tyr266Phe)
c.638A>T (p.Tyr213Phe)
1g.173909851T>CCA343774522SERPINC1c.854A>G (p.Tyr285Cys)
n.505A>G
c.559+2013A>G (n.559+2013A>G)
c.710A>G (p.Tyr237Cys)
c.977A>G (p.Tyr326Cys)
c.935A>G (p.Tyr312Cys)
c.833A>G (p.Tyr278Cys)
c.797A>G (p.Tyr266Cys)
c.638A>G (p.Tyr213Cys)
1g.173909851T>GCA343774520SERPINC1c.854A>C (p.Tyr285Ser)
n.505A>C
c.559+2013A>C (n.559+2013A>C)
c.710A>C (p.Tyr237Ser)
c.977A>C (p.Tyr326Ser)
c.935A>C (p.Tyr312Ser)
c.833A>C (p.Tyr278Ser)
c.797A>C (p.Tyr266Ser)
c.638A>C (p.Tyr213Ser)
1g.173909851T=CA1207937020SERPINC1c.854A= (p.Tyr285=)
n.505A=
c.559+2013A= (n.559+2013A=)
c.710A= (p.Tyr237=)
c.977A= (p.Tyr326=)
c.935A= (p.Tyr312=)
c.833A= (p.Tyr278=)
c.797A= (p.Tyr266=)
c.638A= (p.Tyr213=)
1g.173909852A=CA1207937021SERPINC1c.853T= (p.Tyr285=)
n.504T=
c.559+2012T= (n.559+2012T=)
c.709T= (p.Tyr237=)
c.976T= (p.Tyr326=)
c.934T= (p.Tyr312=)
c.832T= (p.Tyr278=)
c.796T= (p.Tyr266=)
c.637T= (p.Tyr213=)
1g.173909852A>CCA343774528SERPINC1c.853T>G (p.Tyr285Asp)
n.504T>G
c.559+2012T>G (n.559+2012T>G)
c.709T>G (p.Tyr237Asp)
c.976T>G (p.Tyr326Asp)
c.934T>G (p.Tyr312Asp)
c.832T>G (p.Tyr278Asp)
c.796T>G (p.Tyr266Asp)
c.637T>G (p.Tyr213Asp)
 dbSNP gnomAD v2 gnomAD v4
1g.173909852A>GCA343774530SERPINC1c.853T>C (p.Tyr285His)
n.504T>C
c.559+2012T>C (n.559+2012T>C)
c.709T>C (p.Tyr237His)
c.976T>C (p.Tyr326His)
c.934T>C (p.Tyr312His)
c.832T>C (p.Tyr278His)
c.796T>C (p.Tyr266His)
c.637T>C (p.Tyr213His)
1g.173909852A>TCA343774531SERPINC1c.853T>A (p.Tyr285Asn)
n.504T>A
c.559+2012T>A (n.559+2012T>A)
c.709T>A (p.Tyr237Asn)
c.976T>A (p.Tyr326Asn)
c.934T>A (p.Tyr312Asn)
c.832T>A (p.Tyr278Asn)
c.796T>A (p.Tyr266Asn)
c.637T>A (p.Tyr213Asn)
 gnomAD v4
1g.173909852_173909857delinsACATCACA1144233207SERPINC1c.848_853delinsTGATGT (p.Met283=)
n.499_504delinsTGATGT
c.559+2007_559+2012delinsTGATGT (n.559+2007_559+2012delinsTGATGT)
c.704_709delinsTGATGT (p.Met235=)
c.971_976delinsTGATGT (p.Met324=)
c.929_934delinsTGATGT (p.Met310=)
c.827_832delinsTGATGT (p.Met276=)
c.791_796delinsTGATGT (p.Met264=)
c.632_637delinsTGATGT (p.Met211=)
1g.173909853_173909857dupCA150699SERPINC1c.849_853dup (p.Tyr285Ter)
n.500_504dup
c.559+2008_559+2012dup (n.559+2008_559+2012dup)
c.705_709dup (p.Tyr237Ter)
c.972_976dup (p.Tyr326Ter)
c.930_934dup (p.Tyr312Ter)
c.828_832dup (p.Tyr278Ter)
c.792_796dup (p.Tyr266Ter)
c.633_637dup (p.Tyr213Ter)
 ClinVar dbSNP
1g.173909853C>ACA343774534SERPINC1c.852G>T (p.Met284Ile)
n.503G>T
c.559+2011G>T (n.559+2011G>T)
c.708G>T (p.Met236Ile)
c.975G>T (p.Met325Ile)
c.933G>T (p.Met311Ile)
c.831G>T (p.Met277Ile)
c.795G>T (p.Met265Ile)
c.636G>T (p.Met212Ile)
 gnomAD v4
1g.173909853C>GCA343774536SERPINC1c.852G>C (p.Met284Ile)
n.503G>C
c.559+2011G>C (n.559+2011G>C)
c.708G>C (p.Met236Ile)
c.975G>C (p.Met325Ile)
c.933G>C (p.Met311Ile)
c.831G>C (p.Met277Ile)
c.795G>C (p.Met265Ile)
c.636G>C (p.Met212Ile)
1g.173909853C>TCA343774538SERPINC1c.852G>A (p.Met284Ile)
n.503G>A
c.559+2011G>A (n.559+2011G>A)
c.708G>A (p.Met236Ile)
c.975G>A (p.Met325Ile)
c.933G>A (p.Met311Ile)
c.831G>A (p.Met277Ile)
c.795G>A (p.Met265Ile)
c.636G>A (p.Met212Ile)
1g.173909854A=CA1207937022SERPINC1c.851T= (p.Met284=)
n.502T=
c.559+2010T= (n.559+2010T=)
c.707T= (p.Met236=)
c.974T= (p.Met325=)
c.932T= (p.Met311=)
c.830T= (p.Met277=)
c.794T= (p.Met265=)
c.635T= (p.Met212=)
1g.173909854A>CCA343774540SERPINC1c.851T>G (p.Met284Arg)
n.502T>G
c.559+2010T>G (n.559+2010T>G)
c.707T>G (p.Met236Arg)
c.974T>G (p.Met325Arg)
c.932T>G (p.Met311Arg)
c.830T>G (p.Met277Arg)
c.794T>G (p.Met265Arg)
c.635T>G (p.Met212Arg)
 ClinVar dbSNP
1g.173909854A>GCA343774542SERPINC1c.851T>C (p.Met284Thr)
n.502T>C
c.559+2010T>C (n.559+2010T>C)
c.707T>C (p.Met236Thr)
c.974T>C (p.Met325Thr)
c.932T>C (p.Met311Thr)
c.830T>C (p.Met277Thr)
c.794T>C (p.Met265Thr)
c.635T>C (p.Met212Thr)
 ClinVar
1g.173909854A>TCA343774544SERPINC1c.851T>A (p.Met284Lys)
n.502T>A
c.559+2010T>A (n.559+2010T>A)
c.707T>A (p.Met236Lys)
c.974T>A (p.Met325Lys)
c.932T>A (p.Met311Lys)
c.830T>A (p.Met277Lys)
c.794T>A (p.Met265Lys)
c.635T>A (p.Met212Lys)
 ClinVar dbSNP
1g.173909855T>ACA343774547SERPINC1c.850A>T (p.Met284Leu)
n.501A>T
c.559+2009A>T (n.559+2009A>T)
c.706A>T (p.Met236Leu)
c.973A>T (p.Met325Leu)
c.931A>T (p.Met311Leu)
c.829A>T (p.Met277Leu)
c.793A>T (p.Met265Leu)
c.634A>T (p.Met212Leu)
1g.173909855T>CCA343774548SERPINC1c.850A>G (p.Met284Val)
n.501A>G
c.559+2009A>G (n.559+2009A>G)
c.706A>G (p.Met236Val)
c.973A>G (p.Met325Val)
c.931A>G (p.Met311Val)
c.829A>G (p.Met277Val)
c.793A>G (p.Met265Val)
c.634A>G (p.Met212Val)
1g.173909855T>GCA343774546SERPINC1c.850A>C (p.Met284Leu)
n.501A>C
c.559+2009A>C (n.559+2009A>C)
c.706A>C (p.Met236Leu)
c.973A>C (p.Met325Leu)
c.931A>C (p.Met311Leu)
c.829A>C (p.Met277Leu)
c.793A>C (p.Met265Leu)
c.634A>C (p.Met212Leu)
1g.173909856C>ACA343774550SERPINC1c.849G>T (p.Met283Ile)
n.500G>T
c.559+2008G>T (n.559+2008G>T)
c.705G>T (p.Met235Ile)
c.972G>T (p.Met324Ile)
c.930G>T (p.Met310Ile)
c.828G>T (p.Met276Ile)
c.792G>T (p.Met264Ile)
c.633G>T (p.Met211Ile)
 dbSNP gnomAD v4
1g.173909856C>GCA343774552SERPINC1c.849G>C (p.Met283Ile)
n.500G>C
c.559+2008G>C (n.559+2008G>C)
c.705G>C (p.Met235Ile)
c.972G>C (p.Met324Ile)
c.930G>C (p.Met310Ile)
c.828G>C (p.Met276Ile)
c.792G>C (p.Met264Ile)
c.633G>C (p.Met211Ile)
1g.173909856C>TCA343774553SERPINC1c.849G>A (p.Met283Ile)
n.500G>A
c.559+2008G>A (n.559+2008G>A)
c.705G>A (p.Met235Ile)
c.972G>A (p.Met324Ile)
c.930G>A (p.Met310Ile)
c.828G>A (p.Met276Ile)
c.792G>A (p.Met264Ile)
c.633G>A (p.Met211Ile)
1g.173909857A=CA1207937023SERPINC1c.848T= (p.Met283=)
n.499T=
c.559+2007T= (n.559+2007T=)
c.704T= (p.Met235=)
c.971T= (p.Met324=)
c.929T= (p.Met310=)
c.827T= (p.Met276=)
c.791T= (p.Met264=)
c.632T= (p.Met211=)
1g.173909857A>CCA343774554SERPINC1c.848T>G (p.Met283Arg)
n.499T>G
c.559+2007T>G (n.559+2007T>G)
c.704T>G (p.Met235Arg)
c.971T>G (p.Met324Arg)
c.929T>G (p.Met310Arg)
c.827T>G (p.Met276Arg)
c.791T>G (p.Met264Arg)
c.632T>G (p.Met211Arg)
1g.173909857A>GCA343774556SERPINC1c.848T>C (p.Met283Thr)
n.499T>C
c.559+2007T>C (n.559+2007T>C)
c.704T>C (p.Met235Thr)
c.971T>C (p.Met324Thr)
c.929T>C (p.Met310Thr)
c.827T>C (p.Met276Thr)
c.791T>C (p.Met264Thr)
c.632T>C (p.Met211Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.173909857A>TCA343774558SERPINC1c.848T>A (p.Met283Lys)
n.499T>A
c.559+2007T>A (n.559+2007T>A)
c.704T>A (p.Met235Lys)
c.971T>A (p.Met324Lys)
c.929T>A (p.Met310Lys)
c.827T>A (p.Met276Lys)
c.791T>A (p.Met264Lys)
c.632T>A (p.Met211Lys)
1g.173909858T>ACA343774560SERPINC1c.847A>T (p.Met283Leu)
n.498A>T
c.559+2006A>T (n.559+2006A>T)
c.703A>T (p.Met235Leu)
c.970A>T (p.Met324Leu)
c.928A>T (p.Met310Leu)
c.826A>T (p.Met276Leu)
c.790A>T (p.Met264Leu)
c.631A>T (p.Met211Leu)
1g.173909858T>CCA343774561SERPINC1c.847A>G (p.Met283Val)
n.498A>G
c.559+2006A>G (n.559+2006A>G)
c.703A>G (p.Met235Val)
c.970A>G (p.Met324Val)
c.928A>G (p.Met310Val)
c.826A>G (p.Met276Val)
c.790A>G (p.Met264Val)
c.631A>G (p.Met211Val)
 gnomAD v4
1g.173909858T>GCA343774563SERPINC1c.847A>C (p.Met283Leu)
n.498A>C
c.559+2006A>C (n.559+2006A>C)
c.703A>C (p.Met235Leu)
c.970A>C (p.Met324Leu)
c.928A>C (p.Met310Leu)
c.826A>C (p.Met276Leu)
c.790A>C (p.Met264Leu)
c.631A>C (p.Met211Leu)
1g.173909859A>CCA421942754SERPINC1c.846T>G (p.Ser282=)
n.497T>G
c.559+2005T>G (n.559+2005T>G)
c.702T>G (p.Ser234=)
c.969T>G (p.Ser323=)
c.927T>G (p.Ser309=)
c.825T>G (p.Ser275=)
c.789T>G (p.Ser263=)
c.630T>G (p.Ser210=)
1g.173909859A>GCA421942755SERPINC1c.846T>C (p.Ser282=)
n.497T>C
c.559+2005T>C (n.559+2005T>C)
c.702T>C (p.Ser234=)
c.969T>C (p.Ser323=)
c.927T>C (p.Ser309=)
c.825T>C (p.Ser275=)
c.789T>C (p.Ser263=)
c.630T>C (p.Ser210=)
 gnomAD v4
1g.173909859A>TCA421942756SERPINC1c.846T>A (p.Ser282=)
n.497T>A
c.559+2005T>A (n.559+2005T>A)
c.702T>A (p.Ser234=)
c.969T>A (p.Ser323=)
c.927T>A (p.Ser309=)
c.825T>A (p.Ser275=)
c.789T>A (p.Ser263=)
c.630T>A (p.Ser210=)
 gnomAD v4

Number of alleles fetched