Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.173908360_173915405del | CA2573051419 | SERPINC1 | c.42-486_1154-846del c.42-486_560-867del c.-272-219_1010-846del c.42-486_1277-846del c.123-486_1235-846del c.42-486_1133-846del c.42-486_1097-846del c.42-486_938-846del | ClinVar |
1 | g.173909622_173910322del | CA2573051420 | SERPINC1 | c.763-379_1084del c.559+1543_560-2128del (n.559+1543_560-2128del) c.619-379_940del c.885+310_1207del c.844-379_1165del c.742-379_1063del c.762+433_1027del c.547-379_868del | ClinVar dbSNP |
1 | g.173909737_173909740delinsCTCT | CA1141581219 | SERPINC1 | c.965_968delinsAGAG (p.Lys322=) n.616_619delinsAGAG c.559+2124_559+2127delinsAGAG (n.559+2124_559+2127delinsAGAG) c.821_824delinsAGAG (p.Lys274=) c.1088_1091delinsAGAG (p.Lys363=) c.1046_1049delinsAGAG (p.Lys349=) c.944_947delinsAGAG (p.Lys315=) c.908_911delinsAGAG (p.Lys303=) c.749_752delinsAGAG (p.Lys250=) | |
1 | g.173909739_173909740del | CA210774 | SERPINC1 | c.967_968del (p.Ser323ProfsTer19) n.618_619del c.559+2126_559+2127del (n.559+2126_559+2127del) c.823_824del (p.Ser275ProfsTer19) c.1090_1091del (p.Ser364ProfsTer19) c.1048_1049del (p.Ser350ProfsTer19) c.946_947del (p.Ser316ProfsTer19) c.910_911del (p.Ser304ProfsTer19) c.751_752del (p.Ser251ProfsTer19) | dbSNP |
1 | g.173909739C>A | CA343774059 | SERPINC1 | c.966G>T (p.Lys322Asn) n.617G>T c.559+2125G>T (n.559+2125G>T) c.822G>T (p.Lys274Asn) c.1089G>T (p.Lys363Asn) c.1047G>T (p.Lys349Asn) c.945G>T (p.Lys315Asn) c.909G>T (p.Lys303Asn) c.750G>T (p.Lys250Asn) | gnomAD v4 |
1 | g.173909739C= | CA1207936974 | SERPINC1 | c.966G= (p.Lys322=) n.617G= c.559+2125G= (n.559+2125G=) c.822G= (p.Lys274=) c.1089G= (p.Lys363=) c.1047G= (p.Lys349=) c.945G= (p.Lys315=) c.909G= (p.Lys303=) c.750G= (p.Lys250=) | |
1 | g.173909739C>G | CA343774061 | SERPINC1 | c.966G>C (p.Lys322Asn) n.617G>C c.559+2125G>C (n.559+2125G>C) c.822G>C (p.Lys274Asn) c.1089G>C (p.Lys363Asn) c.1047G>C (p.Lys349Asn) c.945G>C (p.Lys315Asn) c.909G>C (p.Lys303Asn) c.750G>C (p.Lys250Asn) | |
1 | g.173909739C>T | CA32780328 | SERPINC1 | c.966G>A (p.Lys322=) n.617G>A c.559+2125G>A (n.559+2125G>A) c.822G>A (p.Lys274=) c.1089G>A (p.Lys363=) c.1047G>A (p.Lys349=) c.945G>A (p.Lys315=) c.909G>A (p.Lys303=) c.750G>A (p.Lys250=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909740T>A | CA343774063 | SERPINC1 | c.965A>T (p.Lys322Met) n.616A>T c.559+2124A>T (n.559+2124A>T) c.821A>T (p.Lys274Met) c.1088A>T (p.Lys363Met) c.1046A>T (p.Lys349Met) c.944A>T (p.Lys315Met) c.908A>T (p.Lys303Met) c.749A>T (p.Lys250Met) | |
1 | g.173909740T>C | CA343774065 | SERPINC1 | c.965A>G (p.Lys322Arg) n.616A>G c.559+2124A>G (n.559+2124A>G) c.821A>G (p.Lys274Arg) c.1088A>G (p.Lys363Arg) c.1046A>G (p.Lys349Arg) c.944A>G (p.Lys315Arg) c.908A>G (p.Lys303Arg) c.749A>G (p.Lys250Arg) | gnomAD v4 |
1 | g.173909740T>G | CA343774067 | SERPINC1 | c.965A>C (p.Lys322Thr) n.616A>C c.559+2124A>C (n.559+2124A>C) c.821A>C (p.Lys274Thr) c.1088A>C (p.Lys363Thr) c.1046A>C (p.Lys349Thr) c.944A>C (p.Lys315Thr) c.908A>C (p.Lys303Thr) c.749A>C (p.Lys250Thr) | |
1 | g.173909741T>A | CA343774069 | SERPINC1 | c.964A>T (p.Lys322Ter) n.615A>T c.559+2123A>T (n.559+2123A>T) c.820A>T (p.Lys274Ter) c.1087A>T (p.Lys363Ter) c.1045A>T (p.Lys349Ter) c.943A>T (p.Lys315Ter) c.907A>T (p.Lys303Ter) c.748A>T (p.Lys250Ter) | |
1 | g.173909741T>C | CA343774071 | SERPINC1 | c.964A>G (p.Lys322Glu) n.615A>G c.559+2123A>G (n.559+2123A>G) c.820A>G (p.Lys274Glu) c.1087A>G (p.Lys363Glu) c.1045A>G (p.Lys349Glu) c.943A>G (p.Lys315Glu) c.907A>G (p.Lys303Glu) c.748A>G (p.Lys250Glu) | |
1 | g.173909741T>G | CA343774072 | SERPINC1 | c.964A>C (p.Lys322Gln) n.615A>C c.559+2123A>C (n.559+2123A>C) c.820A>C (p.Lys274Gln) c.1087A>C (p.Lys363Gln) c.1045A>C (p.Lys349Gln) c.943A>C (p.Lys315Gln) c.907A>C (p.Lys303Gln) c.748A>C (p.Lys250Gln) | |
1 | g.173909742C>A | CA343774074 | SERPINC1 | c.963G>T (p.Glu321Asp) n.614G>T c.559+2122G>T (n.559+2122G>T) c.819G>T (p.Glu273Asp) c.1086G>T (p.Glu362Asp) c.1044G>T (p.Glu348Asp) c.942G>T (p.Glu314Asp) c.906G>T (p.Glu302Asp) c.747G>T (p.Glu249Asp) | |
1 | g.173909742C>G | CA343774075 | SERPINC1 | c.963G>C (p.Glu321Asp) n.614G>C c.559+2122G>C (n.559+2122G>C) c.819G>C (p.Glu273Asp) c.1086G>C (p.Glu362Asp) c.1044G>C (p.Glu348Asp) c.942G>C (p.Glu314Asp) c.906G>C (p.Glu302Asp) c.747G>C (p.Glu249Asp) | |
1 | g.173909742C>T | CA421942983 | SERPINC1 | c.963G>A (p.Glu321=) n.614G>A c.559+2122G>A (n.559+2122G>A) c.819G>A (p.Glu273=) c.1086G>A (p.Glu362=) c.1044G>A (p.Glu348=) c.942G>A (p.Glu314=) c.906G>A (p.Glu302=) c.747G>A (p.Glu249=) | gnomAD v4 COSMIC |
1 | g.173909743T>A | CA343774077 | SERPINC1 | c.962A>T (p.Glu321Val) n.613A>T c.559+2121A>T (n.559+2121A>T) c.818A>T (p.Glu273Val) c.1085A>T (p.Glu362Val) c.1043A>T (p.Glu348Val) c.941A>T (p.Glu314Val) c.905A>T (p.Glu302Val) c.746A>T (p.Glu249Val) | |
1 | g.173909743T>C | CA343774079 | SERPINC1 | c.962A>G (p.Glu321Gly) n.613A>G c.559+2121A>G (n.559+2121A>G) c.818A>G (p.Glu273Gly) c.1085A>G (p.Glu362Gly) c.1043A>G (p.Glu348Gly) c.941A>G (p.Glu314Gly) c.905A>G (p.Glu302Gly) c.746A>G (p.Glu249Gly) | |
1 | g.173909743T>G | CA343774081 | SERPINC1 | c.962A>C (p.Glu321Ala) n.613A>C c.559+2121A>C (n.559+2121A>C) c.818A>C (p.Glu273Ala) c.1085A>C (p.Glu362Ala) c.1043A>C (p.Glu348Ala) c.941A>C (p.Glu314Ala) c.905A>C (p.Glu302Ala) c.746A>C (p.Glu249Ala) | |
1 | g.173909744C>A | CA343774087 | SERPINC1 | c.961G>T (p.Glu321Ter) n.612G>T c.559+2120G>T (n.559+2120G>T) c.817G>T (p.Glu273Ter) c.1084G>T (p.Glu362Ter) c.1042G>T (p.Glu348Ter) c.940G>T (p.Glu314Ter) c.904G>T (p.Glu302Ter) c.745G>T (p.Glu249Ter) | |
1 | g.173909744C= | CA1207936975 | SERPINC1 | c.961G= (p.Glu321=) n.612G= c.559+2120G= (n.559+2120G=) c.817G= (p.Glu273=) c.1084G= (p.Glu362=) c.1042G= (p.Glu348=) c.940G= (p.Glu314=) c.904G= (p.Glu302=) c.745G= (p.Glu249=) | |
1 | g.173909744C>G | CA343774083 | SERPINC1 | c.961G>C (p.Glu321Gln) n.612G>C c.559+2120G>C (n.559+2120G>C) c.817G>C (p.Glu273Gln) c.1084G>C (p.Glu362Gln) c.1042G>C (p.Glu348Gln) c.940G>C (p.Glu314Gln) c.904G>C (p.Glu302Gln) c.745G>C (p.Glu249Gln) | |
1 | g.173909744C>T | CA343774085 | SERPINC1 | c.961G>A (p.Glu321Lys) n.612G>A c.559+2120G>A (n.559+2120G>A) c.817G>A (p.Glu273Lys) c.1084G>A (p.Glu362Lys) c.1042G>A (p.Glu348Lys) c.940G>A (p.Glu314Lys) c.904G>A (p.Glu302Lys) c.745G>A (p.Glu249Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909745A= | CA1207936976 | SERPINC1 | c.960T= (p.Pro320=) n.611T= c.559+2119T= (n.559+2119T=) c.816T= (p.Pro272=) c.1083T= (p.Pro361=) c.1041T= (p.Pro347=) c.939T= (p.Pro313=) c.903T= (p.Pro301=) c.744T= (p.Pro248=) | |
1 | g.173909745A>C | CA421942989 | SERPINC1 | c.960T>G (p.Pro320=) n.611T>G c.559+2119T>G (n.559+2119T>G) c.816T>G (p.Pro272=) c.1083T>G (p.Pro361=) c.1041T>G (p.Pro347=) c.939T>G (p.Pro313=) c.903T>G (p.Pro301=) c.744T>G (p.Pro248=) | gnomAD v3 gnomAD v4 |
1 | g.173909745A>G | CA421942990 | SERPINC1 | c.960T>C (p.Pro320=) n.611T>C c.559+2119T>C (n.559+2119T>C) c.816T>C (p.Pro272=) c.1083T>C (p.Pro361=) c.1041T>C (p.Pro347=) c.939T>C (p.Pro313=) c.903T>C (p.Pro301=) c.744T>C (p.Pro248=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.173909745A>T | CA421942991 | SERPINC1 | c.960T>A (p.Pro320=) n.611T>A c.559+2119T>A (n.559+2119T>A) c.816T>A (p.Pro272=) c.1083T>A (p.Pro361=) c.1041T>A (p.Pro347=) c.939T>A (p.Pro313=) c.903T>A (p.Pro301=) c.744T>A (p.Pro248=) | |
1 | g.173909746G>A | CA343774089 | SERPINC1 | c.959C>T (p.Pro320Leu) n.610C>T c.559+2118C>T (n.559+2118C>T) c.815C>T (p.Pro272Leu) c.1082C>T (p.Pro361Leu) c.1040C>T (p.Pro347Leu) c.938C>T (p.Pro313Leu) c.902C>T (p.Pro301Leu) c.743C>T (p.Pro248Leu) | dbSNP |
1 | g.173909746G>C | CA343774091 | SERPINC1 | c.959C>G (p.Pro320Arg) n.610C>G c.559+2118C>G (n.559+2118C>G) c.815C>G (p.Pro272Arg) c.1082C>G (p.Pro361Arg) c.1040C>G (p.Pro347Arg) c.938C>G (p.Pro313Arg) c.902C>G (p.Pro301Arg) c.743C>G (p.Pro248Arg) | |
1 | g.173909746G= | CA1207936977 | SERPINC1 | c.959C= (p.Pro320=) n.610C= c.559+2118C= (n.559+2118C=) c.815C= (p.Pro272=) c.1082C= (p.Pro361=) c.1040C= (p.Pro347=) c.938C= (p.Pro313=) c.902C= (p.Pro301=) c.743C= (p.Pro248=) | |
1 | g.173909746G>T | CA343774093 | SERPINC1 | c.959C>A (p.Pro320His) n.610C>A c.559+2118C>A (n.559+2118C>A) c.815C>A (p.Pro272His) c.1082C>A (p.Pro361His) c.1040C>A (p.Pro347His) c.938C>A (p.Pro313His) c.902C>A (p.Pro301His) c.743C>A (p.Pro248His) | |
1 | g.173909747G>A | CA1251304 | SERPINC1 | c.958C>T (p.Pro320Ser) n.609C>T c.559+2117C>T (n.559+2117C>T) c.814C>T (p.Pro272Ser) c.1081C>T (p.Pro361Ser) c.1039C>T (p.Pro347Ser) c.937C>T (p.Pro313Ser) c.901C>T (p.Pro301Ser) c.742C>T (p.Pro248Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.173909747G>C | CA343774096 | SERPINC1 | c.958C>G (p.Pro320Ala) n.609C>G c.559+2117C>G (n.559+2117C>G) c.814C>G (p.Pro272Ala) c.1081C>G (p.Pro361Ala) c.1039C>G (p.Pro347Ala) c.937C>G (p.Pro313Ala) c.901C>G (p.Pro301Ala) c.742C>G (p.Pro248Ala) | |
1 | g.173909747G= | CA1207936978 | SERPINC1 | c.958C= (p.Pro320=) n.609C= c.559+2117C= (n.559+2117C=) c.814C= (p.Pro272=) c.1081C= (p.Pro361=) c.1039C= (p.Pro347=) c.937C= (p.Pro313=) c.901C= (p.Pro301=) c.742C= (p.Pro248=) | |
1 | g.173909747G>T | CA343774098 | SERPINC1 | c.958C>A (p.Pro320Thr) n.609C>A c.559+2117C>A (n.559+2117C>A) c.814C>A (p.Pro272Thr) c.1081C>A (p.Pro361Thr) c.1039C>A (p.Pro347Thr) c.937C>A (p.Pro313Thr) c.901C>A (p.Pro301Thr) c.742C>A (p.Pro248Thr) | |
1 | g.173909748C>A | CA343774100 | SERPINC1 | c.957G>T (p.Lys319Asn) n.608G>T c.559+2116G>T (n.559+2116G>T) c.813G>T (p.Lys271Asn) c.1080G>T (p.Lys360Asn) c.1038G>T (p.Lys346Asn) c.936G>T (p.Lys312Asn) c.900G>T (p.Lys300Asn) c.741G>T (p.Lys247Asn) | |
1 | g.173909748C= | CA1207936979 | SERPINC1 | c.957G= (p.Lys319=) n.608G= c.559+2116G= (n.559+2116G=) c.813G= (p.Lys271=) c.1080G= (p.Lys360=) c.1038G= (p.Lys346=) c.936G= (p.Lys312=) c.900G= (p.Lys300=) c.741G= (p.Lys247=) | |
1 | g.173909748C>G | CA343774101 | SERPINC1 | c.957G>C (p.Lys319Asn) n.608G>C c.559+2116G>C (n.559+2116G>C) c.813G>C (p.Lys271Asn) c.1080G>C (p.Lys360Asn) c.1038G>C (p.Lys346Asn) c.936G>C (p.Lys312Asn) c.900G>C (p.Lys300Asn) c.741G>C (p.Lys247Asn) | |
1 | g.173909748C>T | CA421942993 | SERPINC1 | c.957G>A (p.Lys319=) n.608G>A c.559+2116G>A (n.559+2116G>A) c.813G>A (p.Lys271=) c.1080G>A (p.Lys360=) c.1038G>A (p.Lys346=) c.936G>A (p.Lys312=) c.900G>A (p.Lys300=) c.741G>A (p.Lys247=) | dbSNP gnomAD v4 COSMIC |
1 | g.173909749T>A | CA343774103 | SERPINC1 | c.956A>T (p.Lys319Met) n.607A>T c.559+2115A>T (n.559+2115A>T) c.812A>T (p.Lys271Met) c.1079A>T (p.Lys360Met) c.1037A>T (p.Lys346Met) c.935A>T (p.Lys312Met) c.899A>T (p.Lys300Met) c.740A>T (p.Lys247Met) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.173909749T>C | CA343774105 | SERPINC1 | c.956A>G (p.Lys319Arg) n.607A>G c.559+2115A>G (n.559+2115A>G) c.812A>G (p.Lys271Arg) c.1079A>G (p.Lys360Arg) c.1037A>G (p.Lys346Arg) c.935A>G (p.Lys312Arg) c.899A>G (p.Lys300Arg) c.740A>G (p.Lys247Arg) | gnomAD v4 |
1 | g.173909749T>G | CA343774107 | SERPINC1 | c.956A>C (p.Lys319Thr) n.607A>C c.559+2115A>C (n.559+2115A>C) c.812A>C (p.Lys271Thr) c.1079A>C (p.Lys360Thr) c.1037A>C (p.Lys346Thr) c.935A>C (p.Lys312Thr) c.899A>C (p.Lys300Thr) c.740A>C (p.Lys247Thr) | |
1 | g.173909749T= | CA1207936980 | SERPINC1 | c.956A= (p.Lys319=) n.607A= c.559+2115A= (n.559+2115A=) c.812A= (p.Lys271=) c.1079A= (p.Lys360=) c.1037A= (p.Lys346=) c.935A= (p.Lys312=) c.899A= (p.Lys300=) c.740A= (p.Lys247=) | |
1 | g.173909750T>A | CA343774110 | SERPINC1 | c.955A>T (p.Lys319Ter) n.606A>T c.559+2114A>T (n.559+2114A>T) c.811A>T (p.Lys271Ter) c.1078A>T (p.Lys360Ter) c.1036A>T (p.Lys346Ter) c.934A>T (p.Lys312Ter) c.898A>T (p.Lys300Ter) c.739A>T (p.Lys247Ter) | |
1 | g.173909750T>C | CA343774112 | SERPINC1 | c.955A>G (p.Lys319Glu) n.606A>G c.559+2114A>G (n.559+2114A>G) c.811A>G (p.Lys271Glu) c.1078A>G (p.Lys360Glu) c.1036A>G (p.Lys346Glu) c.934A>G (p.Lys312Glu) c.898A>G (p.Lys300Glu) c.739A>G (p.Lys247Glu) | |
1 | g.173909750T>G | CA343774108 | SERPINC1 | c.955A>C (p.Lys319Gln) n.606A>C c.559+2114A>C (n.559+2114A>C) c.811A>C (p.Lys271Gln) c.1078A>C (p.Lys360Gln) c.1036A>C (p.Lys346Gln) c.934A>C (p.Lys312Gln) c.898A>C (p.Lys300Gln) c.739A>C (p.Lys247Gln) | |
1 | g.173909751G>A | CA421943001 | SERPINC1 | c.954C>T (p.Pro318=) n.605C>T c.559+2113C>T (n.559+2113C>T) c.810C>T (p.Pro270=) c.1077C>T (p.Pro359=) c.1035C>T (p.Pro345=) c.933C>T (p.Pro311=) c.897C>T (p.Pro299=) c.738C>T (p.Pro246=) | |
1 | g.173909751G>C | CA421943002 | SERPINC1 | c.954C>G (p.Pro318=) n.605C>G c.559+2113C>G (n.559+2113C>G) c.810C>G (p.Pro270=) c.1077C>G (p.Pro359=) c.1035C>G (p.Pro345=) c.933C>G (p.Pro311=) c.897C>G (p.Pro299=) c.738C>G (p.Pro246=) | |
1 | g.173909751G>T | CA421943003 | SERPINC1 | c.954C>A (p.Pro318=) n.605C>A c.559+2113C>A (n.559+2113C>A) c.810C>A (p.Pro270=) c.1077C>A (p.Pro359=) c.1035C>A (p.Pro345=) c.933C>A (p.Pro311=) c.897C>A (p.Pro299=) c.738C>A (p.Pro246=) |