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.173909657C>ACA343773707SERPINC1c.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)
1g.173909657C>GCA343773710SERPINC1c.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)
1g.173909657C>TCA343773712SERPINC1c.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)
1g.173909658C>ACA421942886SERPINC1c.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=)
1g.173909658C>GCA421942885SERPINC1c.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=)
1g.173909658C>TCA421942884SERPINC1c.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=)
1g.173909659A>CCA343773714SERPINC1c.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
1g.173909659A>GCA343773716SERPINC1c.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)
1g.173909659A>TCA343773718SERPINC1c.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)
1g.173909660C>ACA343773720SERPINC1c.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)
1g.173909660C=CA1207936934SERPINC1c.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=)
1g.173909660C>GCA343773721SERPINC1c.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
1g.173909660C>TCA343773723SERPINC1c.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
1g.173909661C>ACA421942891SERPINC1c.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
1g.173909661C=CA1207936935SERPINC1c.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=)
1g.173909661C>GCA421942890SERPINC1c.1044G>C (p.Leu348=)
c.560-2168G>C (n.560-2168G>C)
c.900G>C (p.Leu300=)
c.1167G>C (p.Leu389=)
c.1125G>C (p.Leu375=)
c.1023G>C (p.Leu341=)
c.987G>C (p.Leu329=)
c.828G>C (p.Leu276=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.173909661C>TCA421942889SERPINC1c.1044G>A (p.Leu348=)
c.560-2168G>A (n.560-2168G>A)
c.900G>A (p.Leu300=)
c.1167G>A (p.Leu389=)
c.1125G>A (p.Leu375=)
c.1023G>A (p.Leu341=)
c.987G>A (p.Leu329=)
c.828G>A (p.Leu276=)
1g.173909662A>CCA343773724SERPINC1c.1043T>G (p.Leu348Arg)
c.560-2169T>G (n.560-2169T>G)
c.899T>G (p.Leu300Arg)
c.1166T>G (p.Leu389Arg)
c.1124T>G (p.Leu375Arg)
c.1022T>G (p.Leu341Arg)
c.986T>G (p.Leu329Arg)
c.827T>G (p.Leu276Arg)
1g.173909662A>GCA343773728SERPINC1c.1043T>C (p.Leu348Pro)
c.560-2169T>C (n.560-2169T>C)
c.899T>C (p.Leu300Pro)
c.1166T>C (p.Leu389Pro)
c.1124T>C (p.Leu375Pro)
c.1022T>C (p.Leu341Pro)
c.986T>C (p.Leu329Pro)
c.827T>C (p.Leu276Pro)
1g.173909662A>TCA343773726SERPINC1c.1043T>A (p.Leu348Gln)
c.560-2169T>A (n.560-2169T>A)
c.899T>A (p.Leu300Gln)
c.1166T>A (p.Leu389Gln)
c.1124T>A (p.Leu375Gln)
c.1022T>A (p.Leu341Gln)
c.986T>A (p.Leu329Gln)
c.827T>A (p.Leu276Gln)
1g.173909663G>ACA421942895SERPINC1c.1042C>T (p.Leu348=)
c.560-2170C>T (n.560-2170C>T)
c.898C>T (p.Leu300=)
c.1165C>T (p.Leu389=)
c.1123C>T (p.Leu375=)
c.1021C>T (p.Leu341=)
c.985C>T (p.Leu329=)
c.826C>T (p.Leu276=)
 dbSNP
1g.173909663G>CCA343773730SERPINC1c.1042C>G (p.Leu348Val)
c.560-2170C>G (n.560-2170C>G)
c.898C>G (p.Leu300Val)
c.1165C>G (p.Leu389Val)
c.1123C>G (p.Leu375Val)
c.1021C>G (p.Leu341Val)
c.985C>G (p.Leu329Val)
c.826C>G (p.Leu276Val)
1g.173909663G=CA1207936936SERPINC1c.1042C= (p.Leu348=)
c.560-2170C= (n.560-2170C=)
c.898C= (p.Leu300=)
c.1165C= (p.Leu389=)
c.1123C= (p.Leu375=)
c.1021C= (p.Leu341=)
c.985C= (p.Leu329=)
c.826C= (p.Leu276=)
1g.173909663G>TCA343773732SERPINC1c.1042C>A (p.Leu348Met)
c.560-2170C>A (n.560-2170C>A)
c.898C>A (p.Leu300Met)
c.1165C>A (p.Leu389Met)
c.1123C>A (p.Leu375Met)
c.1021C>A (p.Leu341Met)
c.985C>A (p.Leu329Met)
c.826C>A (p.Leu276Met)
1g.173909664C>ACA343773733SERPINC1c.1041G>T (p.Met347Ile)
c.560-2171G>T (n.560-2171G>T)
c.897G>T (p.Met299Ile)
c.1164G>T (p.Met388Ile)
c.1122G>T (p.Met374Ile)
c.1020G>T (p.Met340Ile)
c.984G>T (p.Met328Ile)
c.825G>T (p.Met275Ile)
 dbSNP gnomAD v3 gnomAD v4
1g.173909664C=CA1207936937SERPINC1c.1041G= (p.Met347=)
c.560-2171G= (n.560-2171G=)
c.897G= (p.Met299=)
c.1164G= (p.Met388=)
c.1122G= (p.Met374=)
c.1020G= (p.Met340=)
c.984G= (p.Met328=)
c.825G= (p.Met275=)
1g.173909664C>GCA343773735SERPINC1c.1041G>C (p.Met347Ile)
c.560-2171G>C (n.560-2171G>C)
c.897G>C (p.Met299Ile)
c.1164G>C (p.Met388Ile)
c.1122G>C (p.Met374Ile)
c.1020G>C (p.Met340Ile)
c.984G>C (p.Met328Ile)
c.825G>C (p.Met275Ile)
1g.173909664C>TCA343773738SERPINC1c.1041G>A (p.Met347Ile)
c.560-2171G>A (n.560-2171G>A)
c.897G>A (p.Met299Ile)
c.1164G>A (p.Met388Ile)
c.1122G>A (p.Met374Ile)
c.1020G>A (p.Met340Ile)
c.984G>A (p.Met328Ile)
c.825G>A (p.Met275Ile)
1g.173909665A>CCA343773739SERPINC1c.1040T>G (p.Met347Arg)
c.560-2172T>G (n.560-2172T>G)
c.896T>G (p.Met299Arg)
c.1163T>G (p.Met388Arg)
c.1121T>G (p.Met374Arg)
c.1019T>G (p.Met340Arg)
c.983T>G (p.Met328Arg)
c.824T>G (p.Met275Arg)
1g.173909665A>GCA343773741SERPINC1c.1040T>C (p.Met347Thr)
c.560-2172T>C (n.560-2172T>C)
c.896T>C (p.Met299Thr)
c.1163T>C (p.Met388Thr)
c.1121T>C (p.Met374Thr)
c.1019T>C (p.Met340Thr)
c.983T>C (p.Met328Thr)
c.824T>C (p.Met275Thr)
1g.173909665A>TCA343773743SERPINC1c.1040T>A (p.Met347Lys)
c.560-2172T>A (n.560-2172T>A)
c.896T>A (p.Met299Lys)
c.1163T>A (p.Met388Lys)
c.1121T>A (p.Met374Lys)
c.1019T>A (p.Met340Lys)
c.983T>A (p.Met328Lys)
c.824T>A (p.Met275Lys)
 gnomAD v4
1g.173909666T>ACA343773745SERPINC1c.1039A>T (p.Met347Leu)
c.560-2173A>T (n.560-2173A>T)
c.895A>T (p.Met299Leu)
c.1162A>T (p.Met388Leu)
c.1120A>T (p.Met374Leu)
c.1018A>T (p.Met340Leu)
c.982A>T (p.Met328Leu)
c.823A>T (p.Met275Leu)
 dbSNP gnomAD v2 gnomAD v4
1g.173909666T>CCA343773747SERPINC1c.1039A>G (p.Met347Val)
c.560-2173A>G (n.560-2173A>G)
c.895A>G (p.Met299Val)
c.1162A>G (p.Met388Val)
c.1120A>G (p.Met374Val)
c.1018A>G (p.Met340Val)
c.982A>G (p.Met328Val)
c.823A>G (p.Met275Val)
1g.173909666T>GCA343773749SERPINC1c.1039A>C (p.Met347Leu)
c.560-2173A>C (n.560-2173A>C)
c.895A>C (p.Met299Leu)
c.1162A>C (p.Met388Leu)
c.1120A>C (p.Met374Leu)
c.1018A>C (p.Met340Leu)
c.982A>C (p.Met328Leu)
c.823A>C (p.Met275Leu)
 gnomAD v4
1g.173909666T=CA1207936938SERPINC1c.1039A= (p.Met347=)
c.560-2173A= (n.560-2173A=)
c.895A= (p.Met299=)
c.1162A= (p.Met388=)
c.1120A= (p.Met374=)
c.1018A= (p.Met340=)
c.982A= (p.Met328=)
c.823A= (p.Met275=)
1g.173909667C>ACA343773752SERPINC1c.1038G>T (p.Met346Ile)
c.560-2174G>T (n.560-2174G>T)
c.894G>T (p.Met298Ile)
c.1161G>T (p.Met387Ile)
c.1119G>T (p.Met373Ile)
c.1017G>T (p.Met339Ile)
c.981G>T (p.Met327Ile)
c.822G>T (p.Met274Ile)
 dbSNP
1g.173909667C=CA1207936939SERPINC1c.1038G= (p.Met346=)
c.560-2174G= (n.560-2174G=)
c.894G= (p.Met298=)
c.1161G= (p.Met387=)
c.1119G= (p.Met373=)
c.1017G= (p.Met339=)
c.981G= (p.Met327=)
c.822G= (p.Met274=)
1g.173909667C>GCA343773753SERPINC1c.1038G>C (p.Met346Ile)
c.560-2174G>C (n.560-2174G>C)
c.894G>C (p.Met298Ile)
c.1161G>C (p.Met387Ile)
c.1119G>C (p.Met373Ile)
c.1017G>C (p.Met339Ile)
c.981G>C (p.Met327Ile)
c.822G>C (p.Met274Ile)
1g.173909667C>TCA32780266SERPINC1c.1038G>A (p.Met346Ile)
c.560-2174G>A (n.560-2174G>A)
c.894G>A (p.Met298Ile)
c.1161G>A (p.Met387Ile)
c.1119G>A (p.Met373Ile)
c.1017G>A (p.Met339Ile)
c.981G>A (p.Met327Ile)
c.822G>A (p.Met274Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.173909668A=CA1207936940SERPINC1c.1037T= (p.Met346=)
c.560-2175T= (n.560-2175T=)
c.893T= (p.Met298=)
c.1160T= (p.Met387=)
c.1118T= (p.Met373=)
c.1016T= (p.Met339=)
c.980T= (p.Met327=)
c.821T= (p.Met274=)
1g.173909668A>CCA343773760SERPINC1c.1037T>G (p.Met346Arg)
c.560-2175T>G (n.560-2175T>G)
c.893T>G (p.Met298Arg)
c.1160T>G (p.Met387Arg)
c.1118T>G (p.Met373Arg)
c.1016T>G (p.Met339Arg)
c.980T>G (p.Met327Arg)
c.821T>G (p.Met274Arg)
1g.173909668A>GCA1251292SERPINC1c.1037T>C (p.Met346Thr)
c.560-2175T>C (n.560-2175T>C)
c.893T>C (p.Met298Thr)
c.1160T>C (p.Met387Thr)
c.1118T>C (p.Met373Thr)
c.1016T>C (p.Met339Thr)
c.980T>C (p.Met327Thr)
c.821T>C (p.Met274Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.173909668A>TCA343773757SERPINC1c.1037T>A (p.Met346Lys)
c.560-2175T>A (n.560-2175T>A)
c.893T>A (p.Met298Lys)
c.1160T>A (p.Met387Lys)
c.1118T>A (p.Met373Lys)
c.1016T>A (p.Met339Lys)
c.980T>A (p.Met327Lys)
c.821T>A (p.Met274Lys)
1g.173909669T>ACA343773762SERPINC1c.1036A>T (p.Met346Leu)
c.560-2176A>T (n.560-2176A>T)
c.892A>T (p.Met298Leu)
c.1159A>T (p.Met387Leu)
c.1117A>T (p.Met373Leu)
c.1015A>T (p.Met339Leu)
c.979A>T (p.Met327Leu)
c.820A>T (p.Met274Leu)
1g.173909669T>CCA343773764SERPINC1c.1036A>G (p.Met346Val)
c.560-2176A>G (n.560-2176A>G)
c.892A>G (p.Met298Val)
c.1159A>G (p.Met387Val)
c.1117A>G (p.Met373Val)
c.1015A>G (p.Met339Val)
c.979A>G (p.Met327Val)
c.820A>G (p.Met274Val)
1g.173909669T>GCA343773766SERPINC1c.1036A>C (p.Met346Leu)
c.560-2176A>C (n.560-2176A>C)
c.892A>C (p.Met298Leu)
c.1159A>C (p.Met387Leu)
c.1117A>C (p.Met373Leu)
c.1015A>C (p.Met339Leu)
c.979A>C (p.Met327Leu)
c.820A>C (p.Met274Leu)
1g.173909669_173909672delinsTCTCCA1207936941SERPINC1c.1033_1036delinsGAGA (p.Glu345=)
c.560-2179_560-2176delinsGAGA (n.560-2179_560-2176delinsGAGA)
c.889_892delinsGAGA (p.Glu297=)
c.1156_1159delinsGAGA (p.Glu386=)
c.1114_1117delinsGAGA (p.Glu372=)
c.1012_1015delinsGAGA (p.Glu338=)
c.976_979delinsGAGA (p.Glu326=)
c.817_820delinsGAGA (p.Glu273=)
1g.173909670C>ACA343773768SERPINC1c.1035G>T (p.Glu345Asp)
c.560-2177G>T (n.560-2177G>T)
c.891G>T (p.Glu297Asp)
c.1158G>T (p.Glu386Asp)
c.1116G>T (p.Glu372Asp)
c.1014G>T (p.Glu338Asp)
c.978G>T (p.Glu326Asp)
c.819G>T (p.Glu273Asp)

Number of alleles fetched