| 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.173909698A>C | CA343773896 | SERPINC1 | c.1007T>G (p.Leu336Arg) c.559+2166T>G (n.559+2166T>G) c.863T>G (p.Leu288Arg) c.1130T>G (p.Leu377Arg) c.1088T>G (p.Leu363Arg) c.986T>G (p.Leu329Arg) c.950T>G (p.Leu317Arg) c.791T>G (p.Leu264Arg) | COSMIC |
| 1 | g.173909698A>G | CA343773892 | SERPINC1 | c.1007T>C (p.Leu336Pro) c.559+2166T>C (n.559+2166T>C) c.863T>C (p.Leu288Pro) c.1130T>C (p.Leu377Pro) c.1088T>C (p.Leu363Pro) c.986T>C (p.Leu329Pro) c.950T>C (p.Leu317Pro) c.791T>C (p.Leu264Pro) | ClinVar |
| 1 | g.173909698A>T | CA343773894 | SERPINC1 | c.1007T>A (p.Leu336Gln) c.559+2166T>A (n.559+2166T>A) c.863T>A (p.Leu288Gln) c.1130T>A (p.Leu377Gln) c.1088T>A (p.Leu363Gln) c.986T>A (p.Leu329Gln) c.950T>A (p.Leu317Gln) c.791T>A (p.Leu264Gln) | |
| 1 | g.173909699G>A | CA421942925 | SERPINC1 | c.1006C>T (p.Leu336=) c.559+2165C>T (n.559+2165C>T) c.862C>T (p.Leu288=) c.1129C>T (p.Leu377=) c.1087C>T (p.Leu363=) c.985C>T (p.Leu329=) c.949C>T (p.Leu317=) c.790C>T (p.Leu264=) | |
| 1 | g.173909699G>C | CA343773898 | SERPINC1 | c.1006C>G (p.Leu336Val) c.559+2165C>G (n.559+2165C>G) c.862C>G (p.Leu288Val) c.1129C>G (p.Leu377Val) c.1087C>G (p.Leu363Val) c.985C>G (p.Leu329Val) c.949C>G (p.Leu317Val) c.790C>G (p.Leu264Val) | |
| 1 | g.173909699G>T | CA343773899 | SERPINC1 | c.1006C>A (p.Leu336Met) c.559+2165C>A (n.559+2165C>A) c.862C>A (p.Leu288Met) c.1129C>A (p.Leu377Met) c.1087C>A (p.Leu363Met) c.985C>A (p.Leu329Met) c.949C>A (p.Leu317Met) c.790C>A (p.Leu264Met) | |
| 1 | g.173909700C>A | CA421942928 | SERPINC1 | c.1005G>T (p.Val335=) c.559+2164G>T (n.559+2164G>T) c.861G>T (p.Val287=) c.1128G>T (p.Val376=) c.1086G>T (p.Val362=) c.984G>T (p.Val328=) c.948G>T (p.Val316=) c.789G>T (p.Val263=) | |
| 1 | g.173909700C= | CA1143273896 | SERPINC1 | c.1005G= (p.Val335=) c.559+2164G= (n.559+2164G=) c.861G= (p.Val287=) c.1128G= (p.Val376=) c.1086G= (p.Val362=) c.984G= (p.Val328=) c.948G= (p.Val316=) c.789G= (p.Val263=) | |
| 1 | g.173909700C>G | CA421942927 | SERPINC1 | c.1005G>C (p.Val335=) c.559+2164G>C (n.559+2164G>C) c.861G>C (p.Val287=) c.1128G>C (p.Val376=) c.1086G>C (p.Val362=) c.984G>C (p.Val328=) c.948G>C (p.Val316=) c.789G>C (p.Val263=) | |
| 1 | g.173909700C>T | CA1251298 | SERPINC1 | c.1005G>A (p.Val335=) c.559+2164G>A (n.559+2164G>A) c.861G>A (p.Val287=) c.1128G>A (p.Val376=) c.1086G>A (p.Val362=) c.984G>A (p.Val328=) c.948G>A (p.Val316=) c.789G>A (p.Val263=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173909701A>C | CA343773903 | SERPINC1 | c.1004T>G (p.Val335Gly) c.559+2163T>G (n.559+2163T>G) c.860T>G (p.Val287Gly) c.1127T>G (p.Val376Gly) c.1085T>G (p.Val362Gly) c.983T>G (p.Val328Gly) c.947T>G (p.Val316Gly) c.788T>G (p.Val263Gly) | |
| 1 | g.173909701A>G | CA343773904 | SERPINC1 | c.1004T>C (p.Val335Ala) c.559+2163T>C (n.559+2163T>C) c.860T>C (p.Val287Ala) c.1127T>C (p.Val376Ala) c.1085T>C (p.Val362Ala) c.983T>C (p.Val328Ala) c.947T>C (p.Val316Ala) c.788T>C (p.Val263Ala) | |
| 1 | g.173909701A>T | CA343773906 | SERPINC1 | c.1004T>A (p.Val335Glu) c.559+2163T>A (n.559+2163T>A) c.860T>A (p.Val287Glu) c.1127T>A (p.Val376Glu) c.1085T>A (p.Val362Glu) c.983T>A (p.Val328Glu) c.947T>A (p.Val316Glu) c.788T>A (p.Val263Glu) | |
| 1 | g.173909702C>A | CA343773908 | SERPINC1 | c.1003G>T (p.Val335Leu) c.559+2162G>T (n.559+2162G>T) c.859G>T (p.Val287Leu) c.1126G>T (p.Val376Leu) c.1084G>T (p.Val362Leu) c.982G>T (p.Val328Leu) c.946G>T (p.Val316Leu) c.787G>T (p.Val263Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173909702C= | CA1207936955 | SERPINC1 | c.1003G= (p.Val335=) c.559+2162G= (n.559+2162G=) c.859G= (p.Val287=) c.1126G= (p.Val376=) c.1084G= (p.Val362=) c.982G= (p.Val328=) c.946G= (p.Val316=) c.787G= (p.Val263=) | |
| 1 | g.173909702C>G | CA343773910 | SERPINC1 | c.1003G>C (p.Val335Leu) c.559+2162G>C (n.559+2162G>C) c.859G>C (p.Val287Leu) c.1126G>C (p.Val376Leu) c.1084G>C (p.Val362Leu) c.982G>C (p.Val328Leu) c.946G>C (p.Val316Leu) c.787G>C (p.Val263Leu) | dbSNP |
| 1 | g.173909702C>T | CA343773912 | SERPINC1 | c.1003G>A (p.Val335Met) c.559+2162G>A (n.559+2162G>A) c.859G>A (p.Val287Met) c.1126G>A (p.Val376Met) c.1084G>A (p.Val362Met) c.982G>A (p.Val328Met) c.946G>A (p.Val316Met) c.787G>A (p.Val263Met) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173909703del | CA2017997726 | SERPINC1 | c.1003del (p.Val335CysfsTer12) c.559+2162del (n.559+2162del) c.859del (p.Val287CysfsTer12) c.1126del (p.Val376CysfsTer12) c.1084del (p.Val362CysfsTer12) c.982del (p.Val328CysfsTer12) c.946del (p.Val316CysfsTer12) c.787del (p.Val263CysfsTer12) | ClinVar |
| 1 | g.173909703C>A | CA343773914 | SERPINC1 | c.1002G>T (p.Glu334Asp) c.559+2161G>T (n.559+2161G>T) c.858G>T (p.Glu286Asp) c.1125G>T (p.Glu375Asp) c.1083G>T (p.Glu361Asp) c.981G>T (p.Glu327Asp) c.945G>T (p.Glu315Asp) c.786G>T (p.Glu262Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173909703C= | CA1207936956 | SERPINC1 | c.1002G= (p.Glu334=) c.559+2161G= (n.559+2161G=) c.858G= (p.Glu286=) c.1125G= (p.Glu375=) c.1083G= (p.Glu361=) c.981G= (p.Glu327=) c.945G= (p.Glu315=) c.786G= (p.Glu262=) | |
| 1 | g.173909703C>G | CA343773916 | SERPINC1 | c.1002G>C (p.Glu334Asp) c.559+2161G>C (n.559+2161G>C) c.858G>C (p.Glu286Asp) c.1125G>C (p.Glu375Asp) c.1083G>C (p.Glu361Asp) c.981G>C (p.Glu327Asp) c.945G>C (p.Glu315Asp) c.786G>C (p.Glu262Asp) | |
| 1 | g.173909703C>T | CA421942929 | SERPINC1 | c.1002G>A (p.Glu334=) c.559+2161G>A (n.559+2161G>A) c.858G>A (p.Glu286=) c.1125G>A (p.Glu375=) c.1083G>A (p.Glu361=) c.981G>A (p.Glu327=) c.945G>A (p.Glu315=) c.786G>A (p.Glu262=) | |
| 1 | g.173909704T>A | CA343773919 | SERPINC1 | c.1001A>T (p.Glu334Val) c.559+2160A>T (n.559+2160A>T) c.857A>T (p.Glu286Val) c.1124A>T (p.Glu375Val) c.1082A>T (p.Glu361Val) c.980A>T (p.Glu327Val) c.944A>T (p.Glu315Val) c.785A>T (p.Glu262Val) | |
| 1 | g.173909704T>C | CA343773920 | SERPINC1 | c.1001A>G (p.Glu334Gly) c.559+2160A>G (n.559+2160A>G) c.857A>G (p.Glu286Gly) c.1124A>G (p.Glu375Gly) c.1082A>G (p.Glu361Gly) c.980A>G (p.Glu327Gly) c.944A>G (p.Glu315Gly) c.785A>G (p.Glu262Gly) | |
| 1 | g.173909704T>G | CA343773918 | SERPINC1 | c.1001A>C (p.Glu334Ala) c.559+2160A>C (n.559+2160A>C) c.857A>C (p.Glu286Ala) c.1124A>C (p.Glu375Ala) c.1082A>C (p.Glu361Ala) c.980A>C (p.Glu327Ala) c.944A>C (p.Glu315Ala) c.785A>C (p.Glu262Ala) | |
| 1 | g.173909705C>A | CA343773922 | SERPINC1 | c.1000G>T (p.Glu334Ter) c.559+2159G>T (n.559+2159G>T) c.856G>T (p.Glu286Ter) c.1123G>T (p.Glu375Ter) c.1081G>T (p.Glu361Ter) c.979G>T (p.Glu327Ter) c.943G>T (p.Glu315Ter) c.784G>T (p.Glu262Ter) | |
| 1 | g.173909705C>G | CA343773923 | SERPINC1 | c.1000G>C (p.Glu334Gln) c.559+2159G>C (n.559+2159G>C) c.856G>C (p.Glu286Gln) c.1123G>C (p.Glu375Gln) c.1081G>C (p.Glu361Gln) c.979G>C (p.Glu327Gln) c.943G>C (p.Glu315Gln) c.784G>C (p.Glu262Gln) | |
| 1 | g.173909705C>T | CA343773925 | SERPINC1 | c.1000G>A (p.Glu334Lys) c.559+2159G>A (n.559+2159G>A) c.856G>A (p.Glu286Lys) c.1123G>A (p.Glu375Lys) c.1081G>A (p.Glu361Lys) c.979G>A (p.Glu327Lys) c.943G>A (p.Glu315Lys) c.784G>A (p.Glu262Lys) | ClinVar gnomAD v4 |
| 1 | g.173909706T>A | CA421942931 | SERPINC1 | c.999A>T (p.Pro333=) c.559+2158A>T (n.559+2158A>T) c.855A>T (p.Pro285=) c.1122A>T (p.Pro374=) c.1080A>T (p.Pro360=) c.978A>T (p.Pro326=) c.942A>T (p.Pro314=) c.783A>T (p.Pro261=) | |
| 1 | g.173909706T>C | CA421942933 | SERPINC1 | c.999A>G (p.Pro333=) c.559+2158A>G (n.559+2158A>G) c.855A>G (p.Pro285=) c.1122A>G (p.Pro374=) c.1080A>G (p.Pro360=) c.978A>G (p.Pro326=) c.942A>G (p.Pro314=) c.783A>G (p.Pro261=) | |
| 1 | g.173909706T>G | CA421942932 | SERPINC1 | c.999A>C (p.Pro333=) c.559+2158A>C (n.559+2158A>C) c.855A>C (p.Pro285=) c.1122A>C (p.Pro374=) c.1080A>C (p.Pro360=) c.978A>C (p.Pro326=) c.942A>C (p.Pro314=) c.783A>C (p.Pro261=) | |
| 1 | g.173909707G>A | CA343773927 | SERPINC1 | c.998C>T (p.Pro333Leu) c.559+2157C>T (n.559+2157C>T) c.854C>T (p.Pro285Leu) c.1121C>T (p.Pro374Leu) c.1079C>T (p.Pro360Leu) c.977C>T (p.Pro326Leu) c.941C>T (p.Pro314Leu) c.782C>T (p.Pro261Leu) | |
| 1 | g.173909707G>C | CA343773929 | SERPINC1 | c.998C>G (p.Pro333Arg) c.559+2157C>G (n.559+2157C>G) c.854C>G (p.Pro285Arg) c.1121C>G (p.Pro374Arg) c.1079C>G (p.Pro360Arg) c.977C>G (p.Pro326Arg) c.941C>G (p.Pro314Arg) c.782C>G (p.Pro261Arg) | |
| 1 | g.173909707G>T | CA343773930 | SERPINC1 | c.998C>A (p.Pro333Gln) c.559+2157C>A (n.559+2157C>A) c.854C>A (p.Pro285Gln) c.1121C>A (p.Pro374Gln) c.1079C>A (p.Pro360Gln) c.977C>A (p.Pro326Gln) c.941C>A (p.Pro314Gln) c.782C>A (p.Pro261Gln) | |
| 1 | g.173909708G>A | CA343773933 | SERPINC1 | c.997C>T (p.Pro333Ser) c.559+2156C>T (n.559+2156C>T) c.853C>T (p.Pro285Ser) c.1120C>T (p.Pro374Ser) c.1078C>T (p.Pro360Ser) c.976C>T (p.Pro326Ser) c.940C>T (p.Pro314Ser) c.781C>T (p.Pro261Ser) | |
| 1 | g.173909708G>C | CA343773937 | SERPINC1 | c.997C>G (p.Pro333Ala) c.559+2156C>G (n.559+2156C>G) c.853C>G (p.Pro285Ala) c.1120C>G (p.Pro374Ala) c.1078C>G (p.Pro360Ala) c.976C>G (p.Pro326Ala) c.940C>G (p.Pro314Ala) c.781C>G (p.Pro261Ala) | |
| 1 | g.173909708G>T | CA343773935 | SERPINC1 | c.997C>A (p.Pro333Thr) c.559+2156C>A (n.559+2156C>A) c.853C>A (p.Pro285Thr) c.1120C>A (p.Pro374Thr) c.1078C>A (p.Pro360Thr) c.976C>A (p.Pro326Thr) c.940C>A (p.Pro314Thr) c.781C>A (p.Pro261Thr) | |
| 1 | g.173909709G>A | CA1251299 | SERPINC1 | c.996C>T (p.Thr332=) c.559+2155C>T (n.559+2155C>T) c.852C>T (p.Thr284=) c.1119C>T (p.Thr373=) c.1077C>T (p.Thr359=) c.975C>T (p.Thr325=) c.939C>T (p.Thr313=) c.780C>T (p.Thr260=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173909709G>C | CA421942935 | SERPINC1 | c.996C>G (p.Thr332=) c.559+2155C>G (n.559+2155C>G) c.852C>G (p.Thr284=) c.1119C>G (p.Thr373=) c.1077C>G (p.Thr359=) c.975C>G (p.Thr325=) c.939C>G (p.Thr313=) c.780C>G (p.Thr260=) | |
| 1 | g.173909709G= | CA1207936957 | SERPINC1 | c.996C= (p.Thr332=) c.559+2155C= (n.559+2155C=) c.852C= (p.Thr284=) c.1119C= (p.Thr373=) c.1077C= (p.Thr359=) c.975C= (p.Thr325=) c.939C= (p.Thr313=) c.780C= (p.Thr260=) | |
| 1 | g.173909709G>T | CA421942936 | SERPINC1 | c.996C>A (p.Thr332=) c.559+2155C>A (n.559+2155C>A) c.852C>A (p.Thr284=) c.1119C>A (p.Thr373=) c.1077C>A (p.Thr359=) c.975C>A (p.Thr325=) c.939C>A (p.Thr313=) c.780C>A (p.Thr260=) | gnomAD v4 |
| 1 | g.173909710G>A | CA349809 | SERPINC1 | c.995C>T (p.Thr332Ile) c.559+2154C>T (n.559+2154C>T) c.851C>T (p.Thr284Ile) c.1118C>T (p.Thr373Ile) c.1076C>T (p.Thr359Ile) c.974C>T (p.Thr325Ile) c.938C>T (p.Thr313Ile) c.779C>T (p.Thr260Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173909710G>C | CA343773941 | SERPINC1 | c.995C>G (p.Thr332Ser) c.559+2154C>G (n.559+2154C>G) c.851C>G (p.Thr284Ser) c.1118C>G (p.Thr373Ser) c.1076C>G (p.Thr359Ser) c.974C>G (p.Thr325Ser) c.938C>G (p.Thr313Ser) c.779C>G (p.Thr260Ser) | |
| 1 | g.173909710G= | CA1147305941 | SERPINC1 | c.995C= (p.Thr332=) c.559+2154C= (n.559+2154C=) c.851C= (p.Thr284=) c.1118C= (p.Thr373=) c.1076C= (p.Thr359=) c.974C= (p.Thr325=) c.938C= (p.Thr313=) c.779C= (p.Thr260=) | |
| 1 | g.173909710G>T | CA343773943 | SERPINC1 | c.995C>A (p.Thr332Asn) c.559+2154C>A (n.559+2154C>A) c.851C>A (p.Thr284Asn) c.1118C>A (p.Thr373Asn) c.1076C>A (p.Thr359Asn) c.974C>A (p.Thr325Asn) c.938C>A (p.Thr313Asn) c.779C>A (p.Thr260Asn) | |
| 1 | g.173909711T>A | CA343773945 | SERPINC1 | c.994A>T (p.Thr332Ser) c.559+2153A>T (n.559+2153A>T) c.850A>T (p.Thr284Ser) c.1117A>T (p.Thr373Ser) c.1075A>T (p.Thr359Ser) c.973A>T (p.Thr325Ser) c.937A>T (p.Thr313Ser) c.778A>T (p.Thr260Ser) | |
| 1 | g.173909711T>C | CA343773949 | SERPINC1 | c.994A>G (p.Thr332Ala) c.559+2153A>G (n.559+2153A>G) c.850A>G (p.Thr284Ala) c.1117A>G (p.Thr373Ala) c.1075A>G (p.Thr359Ala) c.973A>G (p.Thr325Ala) c.937A>G (p.Thr313Ala) c.778A>G (p.Thr260Ala) | |
| 1 | g.173909711T>G | CA343773947 | SERPINC1 | c.994A>C (p.Thr332Pro) c.559+2153A>C (n.559+2153A>C) c.850A>C (p.Thr284Pro) c.1117A>C (p.Thr373Pro) c.1075A>C (p.Thr359Pro) c.973A>C (p.Thr325Pro) c.937A>C (p.Thr313Pro) c.778A>C (p.Thr260Pro) | |
| 1 | g.173909712del | CA2580612098 | SERPINC1 | c.993del (p.Thr332ProfsTer15) c.559+2152del (n.559+2152del) c.849del (p.Thr284ProfsTer15) c.1116del (p.Thr373ProfsTer15) c.1074del (p.Thr359ProfsTer15) c.972del (p.Thr325ProfsTer15) c.936del (p.Thr313ProfsTer15) c.777del (p.Thr260ProfsTer15) | |
| 1 | g.173909712G>A | CA421942941 | SERPINC1 | c.993C>T (p.Leu331=) c.559+2152C>T (n.559+2152C>T) c.849C>T (p.Leu283=) c.1116C>T (p.Leu372=) c.1074C>T (p.Leu358=) c.972C>T (p.Leu324=) c.936C>T (p.Leu312=) c.777C>T (p.Leu259=) | gnomAD v4 |
| 1 | g.173909712G>C | CA421942943 | SERPINC1 | c.993C>G (p.Leu331=) c.559+2152C>G (n.559+2152C>G) c.849C>G (p.Leu283=) c.1116C>G (p.Leu372=) c.1074C>G (p.Leu358=) c.972C>G (p.Leu324=) c.936C>G (p.Leu312=) c.777C>G (p.Leu259=) | dbSNP |
| 1 | g.173909712G>T | CA421942944 | SERPINC1 | c.993C>A (p.Leu331=) c.559+2152C>A (n.559+2152C>A) c.849C>A (p.Leu283=) c.1116C>A (p.Leu372=) c.1074C>A (p.Leu358=) c.972C>A (p.Leu324=) c.936C>A (p.Leu312=) c.777C>A (p.Leu259=) | |
| 1 | g.173909713del | CA2586964404 | SERPINC1 | c.992del (p.Leu331ProfsTer16) c.559+2151del (n.559+2151del) c.848del (p.Leu283ProfsTer16) c.1115del (p.Leu372ProfsTer16) c.1073del (p.Leu358ProfsTer16) c.971del (p.Leu324ProfsTer16) c.935del (p.Leu312ProfsTer16) c.776del (p.Leu259ProfsTer16) | |
| 1 | g.173909713A>C | CA343773951 | SERPINC1 | c.992T>G (p.Leu331Arg) c.559+2151T>G (n.559+2151T>G) c.848T>G (p.Leu283Arg) c.1115T>G (p.Leu372Arg) c.1073T>G (p.Leu358Arg) c.971T>G (p.Leu324Arg) c.935T>G (p.Leu312Arg) c.776T>G (p.Leu259Arg) | |
| 1 | g.173909713A>G | CA343773954 | SERPINC1 | c.992T>C (p.Leu331Pro) c.559+2151T>C (n.559+2151T>C) c.848T>C (p.Leu283Pro) c.1115T>C (p.Leu372Pro) c.1073T>C (p.Leu358Pro) c.971T>C (p.Leu324Pro) c.935T>C (p.Leu312Pro) c.776T>C (p.Leu259Pro) | |
| 1 | g.173909713A>T | CA343773953 | SERPINC1 | c.992T>A (p.Leu331His) c.559+2151T>A (n.559+2151T>A) c.848T>A (p.Leu283His) c.1115T>A (p.Leu372His) c.1073T>A (p.Leu358His) c.971T>A (p.Leu324His) c.935T>A (p.Leu312His) c.776T>A (p.Leu259His) | |
| 1 | g.173909714G>A | CA343773956 | SERPINC1 | c.991C>T (p.Leu331Phe) c.559+2150C>T (n.559+2150C>T) c.847C>T (p.Leu283Phe) c.1114C>T (p.Leu372Phe) c.1072C>T (p.Leu358Phe) c.970C>T (p.Leu324Phe) c.934C>T (p.Leu312Phe) c.775C>T (p.Leu259Phe) | gnomAD v4 |
| 1 | g.173909714G>C | CA343773957 | SERPINC1 | c.991C>G (p.Leu331Val) c.559+2150C>G (n.559+2150C>G) c.847C>G (p.Leu283Val) c.1114C>G (p.Leu372Val) c.1072C>G (p.Leu358Val) c.970C>G (p.Leu324Val) c.934C>G (p.Leu312Val) c.775C>G (p.Leu259Val) | dbSNP |
| 1 | g.173909714G= | CA1207936958 | SERPINC1 | c.991C= (p.Leu331=) c.559+2150C= (n.559+2150C=) c.847C= (p.Leu283=) c.1114C= (p.Leu372=) c.1072C= (p.Leu358=) c.970C= (p.Leu324=) c.934C= (p.Leu312=) c.775C= (p.Leu259=) | |
| 1 | g.173909714G>T | CA343773958 | SERPINC1 | c.991C>A (p.Leu331Ile) c.559+2150C>A (n.559+2150C>A) c.847C>A (p.Leu283Ile) c.1114C>A (p.Leu372Ile) c.1072C>A (p.Leu358Ile) c.970C>A (p.Leu324Ile) c.934C>A (p.Leu312Ile) c.775C>A (p.Leu259Ile) | |
| 1 | g.173909715T>A | CA343773959 | SERPINC1 | c.990A>T (p.Glu330Asp) c.559+2149A>T (n.559+2149A>T) c.846A>T (p.Glu282Asp) c.1113A>T (p.Glu371Asp) c.1071A>T (p.Glu357Asp) c.969A>T (p.Glu323Asp) c.933A>T (p.Glu311Asp) c.774A>T (p.Glu258Asp) | |
| 1 | g.173909715T>C | CA421942949 | SERPINC1 | c.990A>G (p.Glu330=) c.559+2149A>G (n.559+2149A>G) c.846A>G (p.Glu282=) c.1113A>G (p.Glu371=) c.1071A>G (p.Glu357=) c.969A>G (p.Glu323=) c.933A>G (p.Glu311=) c.774A>G (p.Glu258=) | dbSNP gnomAD v4 COSMIC |
| 1 | g.173909715T>G | CA343773961 | SERPINC1 | c.990A>C (p.Glu330Asp) c.559+2149A>C (n.559+2149A>C) c.846A>C (p.Glu282Asp) c.1113A>C (p.Glu371Asp) c.1071A>C (p.Glu357Asp) c.969A>C (p.Glu323Asp) c.933A>C (p.Glu311Asp) c.774A>C (p.Glu258Asp) | |
| 1 | g.173909715T= | CA1207936959 | SERPINC1 | c.990A= (p.Glu330=) c.559+2149A= (n.559+2149A=) c.846A= (p.Glu282=) c.1113A= (p.Glu371=) c.1071A= (p.Glu357=) c.969A= (p.Glu323=) c.933A= (p.Glu311=) c.774A= (p.Glu258=) | |
| 1 | g.173909716T>A | CA343773963 | SERPINC1 | c.989A>T (p.Glu330Val) c.559+2148A>T (n.559+2148A>T) c.845A>T (p.Glu282Val) c.1112A>T (p.Glu371Val) c.1070A>T (p.Glu357Val) c.968A>T (p.Glu323Val) c.932A>T (p.Glu311Val) c.773A>T (p.Glu258Val) | |
| 1 | g.173909716T>C | CA343773965 | SERPINC1 | c.989A>G (p.Glu330Gly) c.559+2148A>G (n.559+2148A>G) c.845A>G (p.Glu282Gly) c.1112A>G (p.Glu371Gly) c.1070A>G (p.Glu357Gly) c.968A>G (p.Glu323Gly) c.932A>G (p.Glu311Gly) c.773A>G (p.Glu258Gly) | |
| 1 | g.173909716T>G | CA343773966 | SERPINC1 | c.989A>C (p.Glu330Ala) c.559+2148A>C (n.559+2148A>C) c.845A>C (p.Glu282Ala) c.1112A>C (p.Glu371Ala) c.1070A>C (p.Glu357Ala) c.968A>C (p.Glu323Ala) c.932A>C (p.Glu311Ala) c.773A>C (p.Glu258Ala) | |
| 1 | g.173909717C>A | CA343773968 | SERPINC1 | c.988G>T (p.Glu330Ter) c.559+2147G>T (n.559+2147G>T) c.844G>T (p.Glu282Ter) c.1111G>T (p.Glu371Ter) c.1069G>T (p.Glu357Ter) c.967G>T (p.Glu323Ter) c.931G>T (p.Glu311Ter) c.772G>T (p.Glu258Ter) | |
| 1 | g.173909717C>G | CA343773969 | SERPINC1 | c.988G>C (p.Glu330Gln) c.559+2147G>C (n.559+2147G>C) c.844G>C (p.Glu282Gln) c.1111G>C (p.Glu371Gln) c.1069G>C (p.Glu357Gln) c.967G>C (p.Glu323Gln) c.931G>C (p.Glu311Gln) c.772G>C (p.Glu258Gln) | |
| 1 | g.173909717C>T | CA343773971 | SERPINC1 | c.988G>A (p.Glu330Lys) c.559+2147G>A (n.559+2147G>A) c.844G>A (p.Glu282Lys) c.1111G>A (p.Glu371Lys) c.1069G>A (p.Glu357Lys) c.967G>A (p.Glu323Lys) c.931G>A (p.Glu311Lys) c.772G>A (p.Glu258Lys) | COSMIC |
| 1 | g.173909718C>A | CA343773973 | SERPINC1 | c.987G>T (p.Lys329Asn) c.559+2146G>T (n.559+2146G>T) c.843G>T (p.Lys281Asn) c.1110G>T (p.Lys370Asn) c.1068G>T (p.Lys356Asn) c.966G>T (p.Lys322Asn) c.930G>T (p.Lys310Asn) c.771G>T (p.Lys257Asn) | |
| 1 | g.173909718C>G | CA343773975 | SERPINC1 | c.987G>C (p.Lys329Asn) c.559+2146G>C (n.559+2146G>C) c.843G>C (p.Lys281Asn) c.1110G>C (p.Lys370Asn) c.1068G>C (p.Lys356Asn) c.966G>C (p.Lys322Asn) c.930G>C (p.Lys310Asn) c.771G>C (p.Lys257Asn) | gnomAD v4 |
| 1 | g.173909718C>T | CA421942956 | SERPINC1 | c.987G>A (p.Lys329=) c.559+2146G>A (n.559+2146G>A) c.843G>A (p.Lys281=) c.1110G>A (p.Lys370=) c.1068G>A (p.Lys356=) c.966G>A (p.Lys322=) c.930G>A (p.Lys310=) c.771G>A (p.Lys257=) | COSMIC |
| 1 | g.173909719T>A | CA343773977 | SERPINC1 | c.986A>T (p.Lys329Met) c.559+2145A>T (n.559+2145A>T) c.842A>T (p.Lys281Met) c.1109A>T (p.Lys370Met) c.1067A>T (p.Lys356Met) c.965A>T (p.Lys322Met) c.929A>T (p.Lys310Met) c.770A>T (p.Lys257Met) | |
| 1 | g.173909719T>C | CA343773980 | SERPINC1 | c.986A>G (p.Lys329Arg) c.559+2145A>G (n.559+2145A>G) c.842A>G (p.Lys281Arg) c.1109A>G (p.Lys370Arg) c.1067A>G (p.Lys356Arg) c.965A>G (p.Lys322Arg) c.929A>G (p.Lys310Arg) c.770A>G (p.Lys257Arg) | dbSNP gnomAD v4 |
| 1 | g.173909719T>G | CA343773979 | SERPINC1 | c.986A>C (p.Lys329Thr) c.559+2145A>C (n.559+2145A>C) c.842A>C (p.Lys281Thr) c.1109A>C (p.Lys370Thr) c.1067A>C (p.Lys356Thr) c.965A>C (p.Lys322Thr) c.929A>C (p.Lys310Thr) c.770A>C (p.Lys257Thr) | dbSNP gnomAD v4 |
| 1 | g.173909719T= | CA1207936960 | SERPINC1 | c.986A= (p.Lys329=) c.559+2145A= (n.559+2145A=) c.842A= (p.Lys281=) c.1109A= (p.Lys370=) c.1067A= (p.Lys356=) c.965A= (p.Lys322=) c.929A= (p.Lys310=) c.770A= (p.Lys257=) | |
| 1 | g.173909720T>A | CA343773981 | SERPINC1 | c.985A>T (p.Lys329Ter) c.559+2144A>T (n.559+2144A>T) c.841A>T (p.Lys281Ter) c.1108A>T (p.Lys370Ter) c.1066A>T (p.Lys356Ter) c.964A>T (p.Lys322Ter) c.928A>T (p.Lys310Ter) c.769A>T (p.Lys257Ter) | |
| 1 | g.173909720T>C | CA343773983 | SERPINC1 | c.985A>G (p.Lys329Glu) c.559+2144A>G (n.559+2144A>G) c.841A>G (p.Lys281Glu) c.1108A>G (p.Lys370Glu) c.1066A>G (p.Lys356Glu) c.964A>G (p.Lys322Glu) c.928A>G (p.Lys310Glu) c.769A>G (p.Lys257Glu) | dbSNP gnomAD v2 |
| 1 | g.173909720T>G | CA343773985 | SERPINC1 | c.985A>C (p.Lys329Gln) c.559+2144A>C (n.559+2144A>C) c.841A>C (p.Lys281Gln) c.1108A>C (p.Lys370Gln) c.1066A>C (p.Lys356Gln) c.964A>C (p.Lys322Gln) c.928A>C (p.Lys310Gln) c.769A>C (p.Lys257Gln) | dbSNP |
| 1 | g.173909720T= | CA1207936961 | SERPINC1 | c.985A= (p.Lys329=) c.559+2144A= (n.559+2144A=) c.841A= (p.Lys281=) c.1108A= (p.Lys370=) c.1066A= (p.Lys356=) c.964A= (p.Lys322=) c.928A= (p.Lys310=) c.769A= (p.Lys257=) | |
| 1 | g.173909721C>A | CA343773987 | SERPINC1 | c.984G>T (p.Glu328Asp) c.559+2143G>T (n.559+2143G>T) c.840G>T (p.Glu280Asp) c.1107G>T (p.Glu369Asp) c.1065G>T (p.Glu355Asp) c.963G>T (p.Glu321Asp) c.927G>T (p.Glu309Asp) c.768G>T (p.Glu256Asp) | |
| 1 | g.173909721C>G | CA343773989 | SERPINC1 | c.984G>C (p.Glu328Asp) c.559+2143G>C (n.559+2143G>C) c.840G>C (p.Glu280Asp) c.1107G>C (p.Glu369Asp) c.1065G>C (p.Glu355Asp) c.963G>C (p.Glu321Asp) c.927G>C (p.Glu309Asp) c.768G>C (p.Glu256Asp) | |
| 1 | g.173909721C>T | CA421942959 | SERPINC1 | c.984G>A (p.Glu328=) c.559+2143G>A (n.559+2143G>A) c.840G>A (p.Glu280=) c.1107G>A (p.Glu369=) c.1065G>A (p.Glu355=) c.963G>A (p.Glu321=) c.927G>A (p.Glu309=) c.768G>A (p.Glu256=) | |
| 1 | g.173909722T>A | CA343773991 | SERPINC1 | c.983A>T (p.Glu328Val) c.559+2142A>T (n.559+2142A>T) c.839A>T (p.Glu280Val) c.1106A>T (p.Glu369Val) c.1064A>T (p.Glu355Val) c.962A>T (p.Glu321Val) c.926A>T (p.Glu309Val) c.767A>T (p.Glu256Val) | |
| 1 | g.173909722T>C | CA32780315 | SERPINC1 | c.983A>G (p.Glu328Gly) c.559+2142A>G (n.559+2142A>G) c.839A>G (p.Glu280Gly) c.1106A>G (p.Glu369Gly) c.1064A>G (p.Glu355Gly) c.962A>G (p.Glu321Gly) c.926A>G (p.Glu309Gly) c.767A>G (p.Glu256Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173909722T>G | CA343773994 | SERPINC1 | c.983A>C (p.Glu328Ala) c.559+2142A>C (n.559+2142A>C) c.839A>C (p.Glu280Ala) c.1106A>C (p.Glu369Ala) c.1064A>C (p.Glu355Ala) c.962A>C (p.Glu321Ala) c.926A>C (p.Glu309Ala) c.767A>C (p.Glu256Ala) | |
| 1 | g.173909722T= | CA1207936962 | SERPINC1 | c.983A= (p.Glu328=) c.559+2142A= (n.559+2142A=) c.839A= (p.Glu280=) c.1106A= (p.Glu369=) c.1064A= (p.Glu355=) c.962A= (p.Glu321=) c.926A= (p.Glu309=) c.767A= (p.Glu256=) | |
| 1 | g.173909723C>A | CA343773996 | SERPINC1 | c.982G>T (p.Glu328Ter) c.559+2141G>T (n.559+2141G>T) c.838G>T (p.Glu280Ter) c.1105G>T (p.Glu369Ter) c.1063G>T (p.Glu355Ter) c.961G>T (p.Glu321Ter) c.925G>T (p.Glu309Ter) c.766G>T (p.Glu256Ter) | |
| 1 | g.173909723C= | CA1207936963 | SERPINC1 | c.982G= (p.Glu328=) c.559+2141G= (n.559+2141G=) c.838G= (p.Glu280=) c.1105G= (p.Glu369=) c.1063G= (p.Glu355=) c.961G= (p.Glu321=) c.925G= (p.Glu309=) c.766G= (p.Glu256=) | |
| 1 | g.173909723C>G | CA343773997 | SERPINC1 | c.982G>C (p.Glu328Gln) c.559+2141G>C (n.559+2141G>C) c.838G>C (p.Glu280Gln) c.1105G>C (p.Glu369Gln) c.1063G>C (p.Glu355Gln) c.961G>C (p.Glu321Gln) c.925G>C (p.Glu309Gln) c.766G>C (p.Glu256Gln) | dbSNP |
| 1 | g.173909723C>T | CA343773999 | SERPINC1 | c.982G>A (p.Glu328Lys) c.559+2141G>A (n.559+2141G>A) c.838G>A (p.Glu280Lys) c.1105G>A (p.Glu369Lys) c.1063G>A (p.Glu355Lys) c.961G>A (p.Glu321Lys) c.925G>A (p.Glu309Lys) c.766G>A (p.Glu256Lys) | |
| 1 | g.173909724del | CA2582342993 | SERPINC1 | c.981del (p.Glu328ArgfsTer19) c.559+2140del (n.559+2140del) c.837del (p.Glu280ArgfsTer19) c.1104del (p.Glu369ArgfsTer19) c.1062del (p.Glu355ArgfsTer19) c.960del (p.Glu321ArgfsTer19) c.924del (p.Glu309ArgfsTer19) c.765del (p.Glu256ArgfsTer19) | |
| 1 | g.173909724T>A | CA421942963 | SERPINC1 | c.981A>T (p.Val327=) c.559+2140A>T (n.559+2140A>T) c.837A>T (p.Val279=) c.1104A>T (p.Val368=) c.1062A>T (p.Val354=) c.960A>T (p.Val320=) c.924A>T (p.Val308=) c.765A>T (p.Val255=) | dbSNP |
| 1 | g.173909724T>C | CA1251300 | SERPINC1 | c.981A>G (p.Val327=) c.559+2140A>G (n.559+2140A>G) c.837A>G (p.Val279=) c.1104A>G (p.Val368=) c.1062A>G (p.Val354=) c.960A>G (p.Val320=) c.924A>G (p.Val308=) c.765A>G (p.Val255=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173909724T>G | CA421942965 | SERPINC1 | c.981A>C (p.Val327=) c.559+2140A>C (n.559+2140A>C) c.837A>C (p.Val279=) c.1104A>C (p.Val368=) c.1062A>C (p.Val354=) c.960A>C (p.Val320=) c.924A>C (p.Val308=) c.765A>C (p.Val255=) | |
| 1 | g.173909724T= | CA1139773037 | SERPINC1 | c.981A= (p.Val327=) c.559+2140A= (n.559+2140A=) c.837A= (p.Val279=) c.1104A= (p.Val368=) c.1062A= (p.Val354=) c.960A= (p.Val320=) c.924A= (p.Val308=) c.765A= (p.Val255=) | |
| 1 | g.173909725A= | CA1207936964 | SERPINC1 | c.980T= (p.Val327=) c.559+2139T= (n.559+2139T=) c.836T= (p.Val279=) c.1103T= (p.Val368=) c.1061T= (p.Val354=) c.959T= (p.Val320=) c.923T= (p.Val308=) c.764T= (p.Val255=) | |
| 1 | g.173909725A>C | CA343774004 | SERPINC1 | c.980T>G (p.Val327Gly) c.559+2139T>G (n.559+2139T>G) c.836T>G (p.Val279Gly) c.1103T>G (p.Val368Gly) c.1061T>G (p.Val354Gly) c.959T>G (p.Val320Gly) c.923T>G (p.Val308Gly) c.764T>G (p.Val255Gly) | |
| 1 | g.173909725A>G | CA1251301 | SERPINC1 | c.980T>C (p.Val327Ala) c.559+2139T>C (n.559+2139T>C) c.836T>C (p.Val279Ala) c.1103T>C (p.Val368Ala) c.1061T>C (p.Val354Ala) c.959T>C (p.Val320Ala) c.923T>C (p.Val308Ala) c.764T>C (p.Val255Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173909725A>T | CA343774003 | SERPINC1 | c.980T>A (p.Val327Glu) c.559+2139T>A (n.559+2139T>A) c.836T>A (p.Val279Glu) c.1103T>A (p.Val368Glu) c.1061T>A (p.Val354Glu) c.959T>A (p.Val320Glu) c.923T>A (p.Val308Glu) c.764T>A (p.Val255Glu) | |
| 1 | g.173909726C>A | CA343774006 | SERPINC1 | c.979G>T (p.Val327Leu) c.559+2138G>T (n.559+2138G>T) c.835G>T (p.Val279Leu) c.1102G>T (p.Val368Leu) c.1060G>T (p.Val354Leu) c.958G>T (p.Val320Leu) c.922G>T (p.Val308Leu) c.763G>T (p.Val255Leu) | |
| 1 | g.173909726C= | CA1207936965 | SERPINC1 | c.979G= (p.Val327=) c.559+2138G= (n.559+2138G=) c.835G= (p.Val279=) c.1102G= (p.Val368=) c.1060G= (p.Val354=) c.958G= (p.Val320=) c.922G= (p.Val308=) c.763G= (p.Val255=) | |
| 1 | g.173909726C>G | CA343774007 | SERPINC1 | c.979G>C (p.Val327Leu) c.559+2138G>C (n.559+2138G>C) c.835G>C (p.Val279Leu) c.1102G>C (p.Val368Leu) c.1060G>C (p.Val354Leu) c.958G>C (p.Val320Leu) c.922G>C (p.Val308Leu) c.763G>C (p.Val255Leu) | |
| 1 | g.173909726C>T | CA343774009 | SERPINC1 | c.979G>A (p.Val327Ile) c.559+2138G>A (n.559+2138G>A) c.835G>A (p.Val279Ile) c.1102G>A (p.Val368Ile) c.1060G>A (p.Val354Ile) c.958G>A (p.Val320Ile) c.922G>A (p.Val308Ile) c.763G>A (p.Val255Ile) | dbSNP |
| 1 | g.173909727dup | CA915940633 | SERPINC1 | c.979dup (p.Val327GlyfsTer16) c.559+2138dup (n.559+2138dup) c.835dup (p.Val279GlyfsTer16) c.1102dup (p.Val368GlyfsTer16) c.1060dup (p.Val354GlyfsTer16) c.958dup (p.Val320GlyfsTer16) c.922dup (p.Val308GlyfsTer16) c.763dup (p.Val255GlyfsTer16) | |
| 1 | g.173909727C>A | CA343774010 | SERPINC1 | c.978G>T (p.Lys326Asn) c.559+2137G>T (n.559+2137G>T) c.834G>T (p.Lys278Asn) c.1101G>T (p.Lys367Asn) c.1059G>T (p.Lys353Asn) c.957G>T (p.Lys319Asn) c.921G>T (p.Lys307Asn) c.762G>T (p.Lys254Asn) | |
| 1 | g.173909727C= | CA1207936966 | SERPINC1 | c.978G= (p.Lys326=) c.559+2137G= (n.559+2137G=) c.834G= (p.Lys278=) c.1101G= (p.Lys367=) c.1059G= (p.Lys353=) c.957G= (p.Lys319=) c.921G= (p.Lys307=) c.762G= (p.Lys254=) | |
| 1 | g.173909727C>G | CA343774012 | SERPINC1 | c.978G>C (p.Lys326Asn) c.559+2137G>C (n.559+2137G>C) c.834G>C (p.Lys278Asn) c.1101G>C (p.Lys367Asn) c.1059G>C (p.Lys353Asn) c.957G>C (p.Lys319Asn) c.921G>C (p.Lys307Asn) c.762G>C (p.Lys254Asn) | |
| 1 | g.173909727C>T | CA421942967 | SERPINC1 | c.978G>A (p.Lys326=) c.559+2137G>A (n.559+2137G>A) c.834G>A (p.Lys278=) c.1101G>A (p.Lys367=) c.1059G>A (p.Lys353=) c.957G>A (p.Lys319=) c.921G>A (p.Lys307=) c.762G>A (p.Lys254=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173909728T>A | CA343774014 | SERPINC1 | c.977A>T (p.Lys326Met) c.559+2136A>T (n.559+2136A>T) c.833A>T (p.Lys278Met) c.1100A>T (p.Lys367Met) c.1058A>T (p.Lys353Met) c.956A>T (p.Lys319Met) c.920A>T (p.Lys307Met) c.761A>T (p.Lys254Met) | |
| 1 | g.173909728T>C | CA343774018 | SERPINC1 | c.977A>G (p.Lys326Arg) c.559+2136A>G (n.559+2136A>G) c.833A>G (p.Lys278Arg) c.1100A>G (p.Lys367Arg) c.1058A>G (p.Lys353Arg) c.956A>G (p.Lys319Arg) c.920A>G (p.Lys307Arg) c.761A>G (p.Lys254Arg) | |
| 1 | g.173909728T>G | CA343774016 | SERPINC1 | c.977A>C (p.Lys326Thr) c.559+2136A>C (n.559+2136A>C) c.833A>C (p.Lys278Thr) c.1100A>C (p.Lys367Thr) c.1058A>C (p.Lys353Thr) c.956A>C (p.Lys319Thr) c.920A>C (p.Lys307Thr) c.761A>C (p.Lys254Thr) | |
| 1 | g.173909729T>A | CA343774020 | SERPINC1 | c.976A>T (p.Lys326Ter) c.559+2135A>T (n.559+2135A>T) c.832A>T (p.Lys278Ter) c.1099A>T (p.Lys367Ter) c.1057A>T (p.Lys353Ter) c.955A>T (p.Lys319Ter) c.919A>T (p.Lys307Ter) c.760A>T (p.Lys254Ter) | |
| 1 | g.173909729T>C | CA343774022 | SERPINC1 | c.976A>G (p.Lys326Glu) c.559+2135A>G (n.559+2135A>G) c.832A>G (p.Lys278Glu) c.1099A>G (p.Lys367Glu) c.1057A>G (p.Lys353Glu) c.955A>G (p.Lys319Glu) c.919A>G (p.Lys307Glu) c.760A>G (p.Lys254Glu) | dbSNP |
| 1 | g.173909729T>G | CA343774023 | SERPINC1 | c.976A>C (p.Lys326Gln) c.559+2135A>C (n.559+2135A>C) c.832A>C (p.Lys278Gln) c.1099A>C (p.Lys367Gln) c.1057A>C (p.Lys353Gln) c.955A>C (p.Lys319Gln) c.919A>C (p.Lys307Gln) c.760A>C (p.Lys254Gln) | |
| 1 | g.173909729T= | CA1207936967 | SERPINC1 | c.976A= (p.Lys326=) c.559+2135A= (n.559+2135A=) c.832A= (p.Lys278=) c.1099A= (p.Lys367=) c.1057A= (p.Lys353=) c.955A= (p.Lys319=) c.919A= (p.Lys307=) c.760A= (p.Lys254=) | |
| 1 | g.173909730G>A | CA421942970 | SERPINC1 | c.975C>T (p.Ala325=) n.626C>T c.559+2134C>T (n.559+2134C>T) c.831C>T (p.Ala277=) c.1098C>T (p.Ala366=) c.1056C>T (p.Ala352=) c.954C>T (p.Ala318=) c.918C>T (p.Ala306=) c.759C>T (p.Ala253=) | |
| 1 | g.173909730G>C | CA1251302 | SERPINC1 | c.975C>G (p.Ala325=) n.626C>G c.559+2134C>G (n.559+2134C>G) c.831C>G (p.Ala277=) c.1098C>G (p.Ala366=) c.1056C>G (p.Ala352=) c.954C>G (p.Ala318=) c.918C>G (p.Ala306=) c.759C>G (p.Ala253=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173909730G= | CA1143444881 | SERPINC1 | c.975C= (p.Ala325=) n.626C= c.559+2134C= (n.559+2134C=) c.831C= (p.Ala277=) c.1098C= (p.Ala366=) c.1056C= (p.Ala352=) c.954C= (p.Ala318=) c.918C= (p.Ala306=) c.759C= (p.Ala253=) | |
| 1 | g.173909730G>T | CA421942971 | SERPINC1 | c.975C>A (p.Ala325=) n.626C>A c.559+2134C>A (n.559+2134C>A) c.831C>A (p.Ala277=) c.1098C>A (p.Ala366=) c.1056C>A (p.Ala352=) c.954C>A (p.Ala318=) c.918C>A (p.Ala306=) c.759C>A (p.Ala253=) | |
| 1 | g.173909731G>A | CA343774024 | SERPINC1 | c.974C>T (p.Ala325Val) n.625C>T c.559+2133C>T (n.559+2133C>T) c.830C>T (p.Ala277Val) c.1097C>T (p.Ala366Val) c.1055C>T (p.Ala352Val) c.953C>T (p.Ala318Val) c.917C>T (p.Ala306Val) c.758C>T (p.Ala253Val) | dbSNP gnomAD v4 |
| 1 | g.173909731G>C | CA343774027 | SERPINC1 | c.974C>G (p.Ala325Gly) n.625C>G c.559+2133C>G (n.559+2133C>G) c.830C>G (p.Ala277Gly) c.1097C>G (p.Ala366Gly) c.1055C>G (p.Ala352Gly) c.953C>G (p.Ala318Gly) c.917C>G (p.Ala306Gly) c.758C>G (p.Ala253Gly) | |
| 1 | g.173909731G>T | CA343774026 | SERPINC1 | c.974C>A (p.Ala325Asp) n.625C>A c.559+2133C>A (n.559+2133C>A) c.830C>A (p.Ala277Asp) c.1097C>A (p.Ala366Asp) c.1055C>A (p.Ala352Asp) c.953C>A (p.Ala318Asp) c.917C>A (p.Ala306Asp) c.758C>A (p.Ala253Asp) | |
| 1 | g.173909732C>A | CA343774030 | SERPINC1 | c.973G>T (p.Ala325Ser) n.624G>T c.559+2132G>T (n.559+2132G>T) c.829G>T (p.Ala277Ser) c.1096G>T (p.Ala366Ser) c.1054G>T (p.Ala352Ser) c.952G>T (p.Ala318Ser) c.916G>T (p.Ala306Ser) c.757G>T (p.Ala253Ser) | |
| 1 | g.173909732C= | CA1207936968 | SERPINC1 | c.973G= (p.Ala325=) n.624G= c.559+2132G= (n.559+2132G=) c.829G= (p.Ala277=) c.1096G= (p.Ala366=) c.1054G= (p.Ala352=) c.952G= (p.Ala318=) c.916G= (p.Ala306=) c.757G= (p.Ala253=) | |
| 1 | g.173909732C>G | CA343774031 | SERPINC1 | c.973G>C (p.Ala325Pro) n.624G>C c.559+2132G>C (n.559+2132G>C) c.829G>C (p.Ala277Pro) c.1096G>C (p.Ala366Pro) c.1054G>C (p.Ala352Pro) c.952G>C (p.Ala318Pro) c.916G>C (p.Ala306Pro) c.757G>C (p.Ala253Pro) | dbSNP |
| 1 | g.173909732C>T | CA343774033 | SERPINC1 | c.973G>A (p.Ala325Thr) n.624G>A c.559+2132G>A (n.559+2132G>A) c.829G>A (p.Ala277Thr) c.1096G>A (p.Ala366Thr) c.1054G>A (p.Ala352Thr) c.952G>A (p.Ala318Thr) c.916G>A (p.Ala306Thr) c.757G>A (p.Ala253Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173909733C>A | CA421942974 | SERPINC1 | c.972G>T (p.Leu324=) n.623G>T c.559+2131G>T (n.559+2131G>T) c.828G>T (p.Leu276=) c.1095G>T (p.Leu365=) c.1053G>T (p.Leu351=) c.951G>T (p.Leu317=) c.915G>T (p.Leu305=) c.756G>T (p.Leu252=) | |
| 1 | g.173909733C= | CA1207936969 | SERPINC1 | c.972G= (p.Leu324=) n.623G= c.559+2131G= (n.559+2131G=) c.828G= (p.Leu276=) c.1095G= (p.Leu365=) c.1053G= (p.Leu351=) c.951G= (p.Leu317=) c.915G= (p.Leu305=) c.756G= (p.Leu252=) | |
| 1 | g.173909733C>G | CA421942975 | SERPINC1 | c.972G>C (p.Leu324=) n.623G>C c.559+2131G>C (n.559+2131G>C) c.828G>C (p.Leu276=) c.1095G>C (p.Leu365=) c.1053G>C (p.Leu351=) c.951G>C (p.Leu317=) c.915G>C (p.Leu305=) c.756G>C (p.Leu252=) | |
| 1 | g.173909733C>T | CA421942976 | SERPINC1 | c.972G>A (p.Leu324=) n.623G>A c.559+2131G>A (n.559+2131G>A) c.828G>A (p.Leu276=) c.1095G>A (p.Leu365=) c.1053G>A (p.Leu351=) c.951G>A (p.Leu317=) c.915G>A (p.Leu305=) c.756G>A (p.Leu252=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173909734A>C | CA343774035 | SERPINC1 | c.971T>G (p.Leu324Arg) n.622T>G c.559+2130T>G (n.559+2130T>G) c.827T>G (p.Leu276Arg) c.1094T>G (p.Leu365Arg) c.1052T>G (p.Leu351Arg) c.950T>G (p.Leu317Arg) c.914T>G (p.Leu305Arg) c.755T>G (p.Leu252Arg) | |
| 1 | g.173909734A>G | CA343774037 | SERPINC1 | c.971T>C (p.Leu324Pro) n.622T>C c.559+2130T>C (n.559+2130T>C) c.827T>C (p.Leu276Pro) c.1094T>C (p.Leu365Pro) c.1052T>C (p.Leu351Pro) c.950T>C (p.Leu317Pro) c.914T>C (p.Leu305Pro) c.755T>C (p.Leu252Pro) | |
| 1 | g.173909734A>T | CA343774039 | SERPINC1 | c.971T>A (p.Leu324Gln) n.622T>A c.559+2130T>A (n.559+2130T>A) c.827T>A (p.Leu276Gln) c.1094T>A (p.Leu365Gln) c.1052T>A (p.Leu351Gln) c.950T>A (p.Leu317Gln) c.914T>A (p.Leu305Gln) c.755T>A (p.Leu252Gln) | |
| 1 | g.173909735G>A | CA421942977 | SERPINC1 | c.970C>T (p.Leu324=) n.621C>T c.559+2129C>T (n.559+2129C>T) c.826C>T (p.Leu276=) c.1093C>T (p.Leu365=) c.1051C>T (p.Leu351=) c.949C>T (p.Leu317=) c.913C>T (p.Leu305=) c.754C>T (p.Leu252=) | dbSNP |
| 1 | g.173909735G>C | CA343774040 | SERPINC1 | c.970C>G (p.Leu324Val) n.621C>G c.559+2129C>G (n.559+2129C>G) c.826C>G (p.Leu276Val) c.1093C>G (p.Leu365Val) c.1051C>G (p.Leu351Val) c.949C>G (p.Leu317Val) c.913C>G (p.Leu305Val) c.754C>G (p.Leu252Val) | |
| 1 | g.173909735G= | CA1207936970 | SERPINC1 | c.970C= (p.Leu324=) n.621C= c.559+2129C= (n.559+2129C=) c.826C= (p.Leu276=) c.1093C= (p.Leu365=) c.1051C= (p.Leu351=) c.949C= (p.Leu317=) c.913C= (p.Leu305=) c.754C= (p.Leu252=) | |
| 1 | g.173909735G>T | CA1251303 | SERPINC1 | c.970C>A (p.Leu324Met) n.621C>A c.559+2129C>A (n.559+2129C>A) c.826C>A (p.Leu276Met) c.1093C>A (p.Leu365Met) c.1051C>A (p.Leu351Met) c.949C>A (p.Leu317Met) c.913C>A (p.Leu305Met) c.754C>A (p.Leu252Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173909736G>A | CA32780322 | SERPINC1 | c.969C>T (p.Ser323=) n.620C>T c.559+2128C>T (n.559+2128C>T) c.825C>T (p.Ser275=) c.1092C>T (p.Ser364=) c.1050C>T (p.Ser350=) c.948C>T (p.Ser316=) c.912C>T (p.Ser304=) c.753C>T (p.Ser251=) | dbSNP |
| 1 | g.173909736G>C | CA343774043 | SERPINC1 | c.969C>G (p.Ser323Arg) n.620C>G c.559+2128C>G (n.559+2128C>G) c.825C>G (p.Ser275Arg) c.1092C>G (p.Ser364Arg) c.1050C>G (p.Ser350Arg) c.948C>G (p.Ser316Arg) c.912C>G (p.Ser304Arg) c.753C>G (p.Ser251Arg) | |
| 1 | g.173909736G= | CA1207936972 | SERPINC1 | c.969C= (p.Ser323=) n.620C= c.559+2128C= (n.559+2128C=) c.825C= (p.Ser275=) c.1092C= (p.Ser364=) c.1050C= (p.Ser350=) c.948C= (p.Ser316=) c.912C= (p.Ser304=) c.753C= (p.Ser251=) | |
| 1 | g.173909736G>T | CA343774044 | SERPINC1 | c.969C>A (p.Ser323Arg) n.620C>A c.559+2128C>A (n.559+2128C>A) c.825C>A (p.Ser275Arg) c.1092C>A (p.Ser364Arg) c.1050C>A (p.Ser350Arg) c.948C>A (p.Ser316Arg) c.912C>A (p.Ser304Arg) c.753C>A (p.Ser251Arg) | |
| 1 | g.173909736_173909738delinsGCT | CA1207936971 | SERPINC1 | c.967_969delinsAGC (p.Ser323=) n.618_620delinsAGC c.559+2126_559+2128delinsAGC (n.559+2126_559+2128delinsAGC) c.823_825delinsAGC (p.Ser275=) c.1090_1092delinsAGC (p.Ser364=) c.1048_1050delinsAGC (p.Ser350=) c.946_948delinsAGC (p.Ser316=) c.910_912delinsAGC (p.Ser304=) c.751_753delinsAGC (p.Ser251=) | |
| 1 | g.173909737C>A | CA343774049 | SERPINC1 | c.968G>T (p.Ser323Ile) n.619G>T c.559+2127G>T (n.559+2127G>T) c.824G>T (p.Ser275Ile) c.1091G>T (p.Ser364Ile) c.1049G>T (p.Ser350Ile) c.947G>T (p.Ser316Ile) c.911G>T (p.Ser304Ile) c.752G>T (p.Ser251Ile) | |
| 1 | g.173909737C>G | CA343774051 | SERPINC1 | c.968G>C (p.Ser323Thr) n.619G>C c.559+2127G>C (n.559+2127G>C) c.824G>C (p.Ser275Thr) c.1091G>C (p.Ser364Thr) c.1049G>C (p.Ser350Thr) c.947G>C (p.Ser316Thr) c.911G>C (p.Ser304Thr) c.752G>C (p.Ser251Thr) | |
| 1 | g.173909737C>T | CA343774047 | SERPINC1 | c.968G>A (p.Ser323Asn) n.619G>A c.559+2127G>A (n.559+2127G>A) c.824G>A (p.Ser275Asn) c.1091G>A (p.Ser364Asn) c.1049G>A (p.Ser350Asn) c.947G>A (p.Ser316Asn) c.911G>A (p.Ser304Asn) c.752G>A (p.Ser251Asn) | |
| 1 | g.173909737_173909740delinsCTCT | CA1141581219 | SERPINC1 | c.965_968delinsAGAG (p.Lys322=) n.616_619delinsAGAG c.559+2124_559+2127delinsAGAG (n.559+2124_559+2127delinsAGAG) c.821_824delinsAGAG (p.Lys274=) c.1088_1091delinsAGAG (p.Lys363=) c.1046_1049delinsAGAG (p.Lys349=) c.944_947delinsAGAG (p.Lys315=) c.908_911delinsAGAG (p.Lys303=) c.749_752delinsAGAG (p.Lys250=) | |
| 1 | g.173909739_173909740del | CA210774 | SERPINC1 | c.967_968del (p.Ser323ProfsTer19) n.618_619del c.559+2126_559+2127del (n.559+2126_559+2127del) c.823_824del (p.Ser275ProfsTer19) c.1090_1091del (p.Ser364ProfsTer19) c.1048_1049del (p.Ser350ProfsTer19) c.946_947del (p.Ser316ProfsTer19) c.910_911del (p.Ser304ProfsTer19) c.751_752del (p.Ser251ProfsTer19) | ClinVar dbSNP |
| 1 | g.173909738T>A | CA343774055 | SERPINC1 | c.967A>T (p.Ser323Cys) n.618A>T c.559+2126A>T (n.559+2126A>T) c.823A>T (p.Ser275Cys) c.1090A>T (p.Ser364Cys) c.1048A>T (p.Ser350Cys) c.946A>T (p.Ser316Cys) c.910A>T (p.Ser304Cys) c.751A>T (p.Ser251Cys) | |
| 1 | g.173909738T>C | CA343774053 | SERPINC1 | c.967A>G (p.Ser323Gly) n.618A>G c.559+2126A>G (n.559+2126A>G) c.823A>G (p.Ser275Gly) c.1090A>G (p.Ser364Gly) c.1048A>G (p.Ser350Gly) c.946A>G (p.Ser316Gly) c.910A>G (p.Ser304Gly) c.751A>G (p.Ser251Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173909738T>G | CA343774057 | SERPINC1 | c.967A>C (p.Ser323Arg) n.618A>C c.559+2126A>C (n.559+2126A>C) c.823A>C (p.Ser275Arg) c.1090A>C (p.Ser364Arg) c.1048A>C (p.Ser350Arg) c.946A>C (p.Ser316Arg) c.910A>C (p.Ser304Arg) c.751A>C (p.Ser251Arg) | |
| 1 | g.173909738T= | CA1207936973 | SERPINC1 | c.967A= (p.Ser323=) n.618A= c.559+2126A= (n.559+2126A=) c.823A= (p.Ser275=) c.1090A= (p.Ser364=) c.1048A= (p.Ser350=) c.946A= (p.Ser316=) c.910A= (p.Ser304=) c.751A= (p.Ser251=) | |
| 1 | g.173909739C>A | CA343774059 | SERPINC1 | c.966G>T (p.Lys322Asn) n.617G>T c.559+2125G>T (n.559+2125G>T) c.822G>T (p.Lys274Asn) c.1089G>T (p.Lys363Asn) c.1047G>T (p.Lys349Asn) c.945G>T (p.Lys315Asn) c.909G>T (p.Lys303Asn) c.750G>T (p.Lys250Asn) | gnomAD v4 |
| 1 | g.173909739C= | CA1207936974 | SERPINC1 | c.966G= (p.Lys322=) n.617G= c.559+2125G= (n.559+2125G=) c.822G= (p.Lys274=) c.1089G= (p.Lys363=) c.1047G= (p.Lys349=) c.945G= (p.Lys315=) c.909G= (p.Lys303=) c.750G= (p.Lys250=) | |
| 1 | g.173909739C>G | CA343774061 | SERPINC1 | c.966G>C (p.Lys322Asn) n.617G>C c.559+2125G>C (n.559+2125G>C) c.822G>C (p.Lys274Asn) c.1089G>C (p.Lys363Asn) c.1047G>C (p.Lys349Asn) c.945G>C (p.Lys315Asn) c.909G>C (p.Lys303Asn) c.750G>C (p.Lys250Asn) | |
| 1 | g.173909739C>T | CA32780328 | SERPINC1 | c.966G>A (p.Lys322=) n.617G>A c.559+2125G>A (n.559+2125G>A) c.822G>A (p.Lys274=) c.1089G>A (p.Lys363=) c.1047G>A (p.Lys349=) c.945G>A (p.Lys315=) c.909G>A (p.Lys303=) c.750G>A (p.Lys250=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173909740T>A | CA343774063 | SERPINC1 | c.965A>T (p.Lys322Met) n.616A>T c.559+2124A>T (n.559+2124A>T) c.821A>T (p.Lys274Met) c.1088A>T (p.Lys363Met) c.1046A>T (p.Lys349Met) c.944A>T (p.Lys315Met) c.908A>T (p.Lys303Met) c.749A>T (p.Lys250Met) | |
| 1 | g.173909740T>C | CA343774065 | SERPINC1 | c.965A>G (p.Lys322Arg) n.616A>G c.559+2124A>G (n.559+2124A>G) c.821A>G (p.Lys274Arg) c.1088A>G (p.Lys363Arg) c.1046A>G (p.Lys349Arg) c.944A>G (p.Lys315Arg) c.908A>G (p.Lys303Arg) c.749A>G (p.Lys250Arg) | gnomAD v4 |
| 1 | g.173909740T>G | CA343774067 | SERPINC1 | c.965A>C (p.Lys322Thr) n.616A>C c.559+2124A>C (n.559+2124A>C) c.821A>C (p.Lys274Thr) c.1088A>C (p.Lys363Thr) c.1046A>C (p.Lys349Thr) c.944A>C (p.Lys315Thr) c.908A>C (p.Lys303Thr) c.749A>C (p.Lys250Thr) | |
| 1 | g.173909741T>A | CA343774069 | SERPINC1 | c.964A>T (p.Lys322Ter) n.615A>T c.559+2123A>T (n.559+2123A>T) c.820A>T (p.Lys274Ter) c.1087A>T (p.Lys363Ter) c.1045A>T (p.Lys349Ter) c.943A>T (p.Lys315Ter) c.907A>T (p.Lys303Ter) c.748A>T (p.Lys250Ter) | |
| 1 | g.173909741T>C | CA343774071 | SERPINC1 | c.964A>G (p.Lys322Glu) n.615A>G c.559+2123A>G (n.559+2123A>G) c.820A>G (p.Lys274Glu) c.1087A>G (p.Lys363Glu) c.1045A>G (p.Lys349Glu) c.943A>G (p.Lys315Glu) c.907A>G (p.Lys303Glu) c.748A>G (p.Lys250Glu) | |
| 1 | g.173909741T>G | CA343774072 | SERPINC1 | c.964A>C (p.Lys322Gln) n.615A>C c.559+2123A>C (n.559+2123A>C) c.820A>C (p.Lys274Gln) c.1087A>C (p.Lys363Gln) c.1045A>C (p.Lys349Gln) c.943A>C (p.Lys315Gln) c.907A>C (p.Lys303Gln) c.748A>C (p.Lys250Gln) | |
| 1 | g.173909742C>A | CA343774074 | SERPINC1 | c.963G>T (p.Glu321Asp) n.614G>T c.559+2122G>T (n.559+2122G>T) c.819G>T (p.Glu273Asp) c.1086G>T (p.Glu362Asp) c.1044G>T (p.Glu348Asp) c.942G>T (p.Glu314Asp) c.906G>T (p.Glu302Asp) c.747G>T (p.Glu249Asp) | |
| 1 | g.173909742C>G | CA343774075 | SERPINC1 | c.963G>C (p.Glu321Asp) n.614G>C c.559+2122G>C (n.559+2122G>C) c.819G>C (p.Glu273Asp) c.1086G>C (p.Glu362Asp) c.1044G>C (p.Glu348Asp) c.942G>C (p.Glu314Asp) c.906G>C (p.Glu302Asp) c.747G>C (p.Glu249Asp) | |
| 1 | g.173909742C>T | CA421942983 | SERPINC1 | c.963G>A (p.Glu321=) n.614G>A c.559+2122G>A (n.559+2122G>A) c.819G>A (p.Glu273=) c.1086G>A (p.Glu362=) c.1044G>A (p.Glu348=) c.942G>A (p.Glu314=) c.906G>A (p.Glu302=) c.747G>A (p.Glu249=) | gnomAD v4 COSMIC |
| 1 | g.173909743T>A | CA343774077 | SERPINC1 | c.962A>T (p.Glu321Val) n.613A>T c.559+2121A>T (n.559+2121A>T) c.818A>T (p.Glu273Val) c.1085A>T (p.Glu362Val) c.1043A>T (p.Glu348Val) c.941A>T (p.Glu314Val) c.905A>T (p.Glu302Val) c.746A>T (p.Glu249Val) | |
| 1 | g.173909743T>C | CA343774079 | SERPINC1 | c.962A>G (p.Glu321Gly) n.613A>G c.559+2121A>G (n.559+2121A>G) c.818A>G (p.Glu273Gly) c.1085A>G (p.Glu362Gly) c.1043A>G (p.Glu348Gly) c.941A>G (p.Glu314Gly) c.905A>G (p.Glu302Gly) c.746A>G (p.Glu249Gly) | |
| 1 | g.173909743T>G | CA343774081 | SERPINC1 | c.962A>C (p.Glu321Ala) n.613A>C c.559+2121A>C (n.559+2121A>C) c.818A>C (p.Glu273Ala) c.1085A>C (p.Glu362Ala) c.1043A>C (p.Glu348Ala) c.941A>C (p.Glu314Ala) c.905A>C (p.Glu302Ala) c.746A>C (p.Glu249Ala) | |
| 1 | g.173909744C>A | CA343774087 | SERPINC1 | c.961G>T (p.Glu321Ter) n.612G>T c.559+2120G>T (n.559+2120G>T) c.817G>T (p.Glu273Ter) c.1084G>T (p.Glu362Ter) c.1042G>T (p.Glu348Ter) c.940G>T (p.Glu314Ter) c.904G>T (p.Glu302Ter) c.745G>T (p.Glu249Ter) | |
| 1 | g.173909744C= | CA1207936975 | SERPINC1 | c.961G= (p.Glu321=) n.612G= c.559+2120G= (n.559+2120G=) c.817G= (p.Glu273=) c.1084G= (p.Glu362=) c.1042G= (p.Glu348=) c.940G= (p.Glu314=) c.904G= (p.Glu302=) c.745G= (p.Glu249=) | |
| 1 | g.173909744C>G | CA343774083 | SERPINC1 | c.961G>C (p.Glu321Gln) n.612G>C c.559+2120G>C (n.559+2120G>C) c.817G>C (p.Glu273Gln) c.1084G>C (p.Glu362Gln) c.1042G>C (p.Glu348Gln) c.940G>C (p.Glu314Gln) c.904G>C (p.Glu302Gln) c.745G>C (p.Glu249Gln) | |
| 1 | g.173909744C>T | CA343774085 | SERPINC1 | c.961G>A (p.Glu321Lys) n.612G>A c.559+2120G>A (n.559+2120G>A) c.817G>A (p.Glu273Lys) c.1084G>A (p.Glu362Lys) c.1042G>A (p.Glu348Lys) c.940G>A (p.Glu314Lys) c.904G>A (p.Glu302Lys) c.745G>A (p.Glu249Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173909745A= | CA1207936976 | SERPINC1 | c.960T= (p.Pro320=) n.611T= c.559+2119T= (n.559+2119T=) c.816T= (p.Pro272=) c.1083T= (p.Pro361=) c.1041T= (p.Pro347=) c.939T= (p.Pro313=) c.903T= (p.Pro301=) c.744T= (p.Pro248=) | |
| 1 | g.173909745A>C | CA421942989 | SERPINC1 | c.960T>G (p.Pro320=) n.611T>G c.559+2119T>G (n.559+2119T>G) c.816T>G (p.Pro272=) c.1083T>G (p.Pro361=) c.1041T>G (p.Pro347=) c.939T>G (p.Pro313=) c.903T>G (p.Pro301=) c.744T>G (p.Pro248=) | gnomAD v3 gnomAD v4 |
| 1 | g.173909745A>G | CA421942990 | SERPINC1 | c.960T>C (p.Pro320=) n.611T>C c.559+2119T>C (n.559+2119T>C) c.816T>C (p.Pro272=) c.1083T>C (p.Pro361=) c.1041T>C (p.Pro347=) c.939T>C (p.Pro313=) c.903T>C (p.Pro301=) c.744T>C (p.Pro248=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173909745A>T | CA421942991 | SERPINC1 | c.960T>A (p.Pro320=) n.611T>A c.559+2119T>A (n.559+2119T>A) c.816T>A (p.Pro272=) c.1083T>A (p.Pro361=) c.1041T>A (p.Pro347=) c.939T>A (p.Pro313=) c.903T>A (p.Pro301=) c.744T>A (p.Pro248=) | |
| 1 | g.173909746G>A | CA343774089 | SERPINC1 | c.959C>T (p.Pro320Leu) n.610C>T c.559+2118C>T (n.559+2118C>T) c.815C>T (p.Pro272Leu) c.1082C>T (p.Pro361Leu) c.1040C>T (p.Pro347Leu) c.938C>T (p.Pro313Leu) c.902C>T (p.Pro301Leu) c.743C>T (p.Pro248Leu) | dbSNP |
| 1 | g.173909746G>C | CA343774091 | SERPINC1 | c.959C>G (p.Pro320Arg) n.610C>G c.559+2118C>G (n.559+2118C>G) c.815C>G (p.Pro272Arg) c.1082C>G (p.Pro361Arg) c.1040C>G (p.Pro347Arg) c.938C>G (p.Pro313Arg) c.902C>G (p.Pro301Arg) c.743C>G (p.Pro248Arg) | |
| 1 | g.173909746G= | CA1207936977 | SERPINC1 | c.959C= (p.Pro320=) n.610C= c.559+2118C= (n.559+2118C=) c.815C= (p.Pro272=) c.1082C= (p.Pro361=) c.1040C= (p.Pro347=) c.938C= (p.Pro313=) c.902C= (p.Pro301=) c.743C= (p.Pro248=) | |
| 1 | g.173909746G>T | CA343774093 | SERPINC1 | c.959C>A (p.Pro320His) n.610C>A c.559+2118C>A (n.559+2118C>A) c.815C>A (p.Pro272His) c.1082C>A (p.Pro361His) c.1040C>A (p.Pro347His) c.938C>A (p.Pro313His) c.902C>A (p.Pro301His) c.743C>A (p.Pro248His) | |
| 1 | g.173909747G>A | CA1251304 | SERPINC1 | c.958C>T (p.Pro320Ser) n.609C>T c.559+2117C>T (n.559+2117C>T) c.814C>T (p.Pro272Ser) c.1081C>T (p.Pro361Ser) c.1039C>T (p.Pro347Ser) c.937C>T (p.Pro313Ser) c.901C>T (p.Pro301Ser) c.742C>T (p.Pro248Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173909747G>C | CA343774096 | SERPINC1 | c.958C>G (p.Pro320Ala) n.609C>G c.559+2117C>G (n.559+2117C>G) c.814C>G (p.Pro272Ala) c.1081C>G (p.Pro361Ala) c.1039C>G (p.Pro347Ala) c.937C>G (p.Pro313Ala) c.901C>G (p.Pro301Ala) c.742C>G (p.Pro248Ala) | |
| 1 | g.173909747G= | CA1207936978 | SERPINC1 | c.958C= (p.Pro320=) n.609C= c.559+2117C= (n.559+2117C=) c.814C= (p.Pro272=) c.1081C= (p.Pro361=) c.1039C= (p.Pro347=) c.937C= (p.Pro313=) c.901C= (p.Pro301=) c.742C= (p.Pro248=) | |
| 1 | g.173909747G>T | CA343774098 | SERPINC1 | c.958C>A (p.Pro320Thr) n.609C>A c.559+2117C>A (n.559+2117C>A) c.814C>A (p.Pro272Thr) c.1081C>A (p.Pro361Thr) c.1039C>A (p.Pro347Thr) c.937C>A (p.Pro313Thr) c.901C>A (p.Pro301Thr) c.742C>A (p.Pro248Thr) | |
| 1 | g.173909748C>A | CA343774100 | SERPINC1 | c.957G>T (p.Lys319Asn) n.608G>T c.559+2116G>T (n.559+2116G>T) c.813G>T (p.Lys271Asn) c.1080G>T (p.Lys360Asn) c.1038G>T (p.Lys346Asn) c.936G>T (p.Lys312Asn) c.900G>T (p.Lys300Asn) c.741G>T (p.Lys247Asn) | |
| 1 | g.173909748C= | CA1207936979 | SERPINC1 | c.957G= (p.Lys319=) n.608G= c.559+2116G= (n.559+2116G=) c.813G= (p.Lys271=) c.1080G= (p.Lys360=) c.1038G= (p.Lys346=) c.936G= (p.Lys312=) c.900G= (p.Lys300=) c.741G= (p.Lys247=) | |
| 1 | g.173909748C>G | CA343774101 | SERPINC1 | c.957G>C (p.Lys319Asn) n.608G>C c.559+2116G>C (n.559+2116G>C) c.813G>C (p.Lys271Asn) c.1080G>C (p.Lys360Asn) c.1038G>C (p.Lys346Asn) c.936G>C (p.Lys312Asn) c.900G>C (p.Lys300Asn) c.741G>C (p.Lys247Asn) | |
| 1 | g.173909748C>T | CA421942993 | SERPINC1 | c.957G>A (p.Lys319=) n.608G>A c.559+2116G>A (n.559+2116G>A) c.813G>A (p.Lys271=) c.1080G>A (p.Lys360=) c.1038G>A (p.Lys346=) c.936G>A (p.Lys312=) c.900G>A (p.Lys300=) c.741G>A (p.Lys247=) | dbSNP gnomAD v4 COSMIC |
| 1 | g.173909749T>A | CA343774103 | SERPINC1 | c.956A>T (p.Lys319Met) n.607A>T c.559+2115A>T (n.559+2115A>T) c.812A>T (p.Lys271Met) c.1079A>T (p.Lys360Met) c.1037A>T (p.Lys346Met) c.935A>T (p.Lys312Met) c.899A>T (p.Lys300Met) c.740A>T (p.Lys247Met) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173909749T>C | CA343774105 | SERPINC1 | c.956A>G (p.Lys319Arg) n.607A>G c.559+2115A>G (n.559+2115A>G) c.812A>G (p.Lys271Arg) c.1079A>G (p.Lys360Arg) c.1037A>G (p.Lys346Arg) c.935A>G (p.Lys312Arg) c.899A>G (p.Lys300Arg) c.740A>G (p.Lys247Arg) | gnomAD v4 |
| 1 | g.173909749T>G | CA343774107 | SERPINC1 | c.956A>C (p.Lys319Thr) n.607A>C c.559+2115A>C (n.559+2115A>C) c.812A>C (p.Lys271Thr) c.1079A>C (p.Lys360Thr) c.1037A>C (p.Lys346Thr) c.935A>C (p.Lys312Thr) c.899A>C (p.Lys300Thr) c.740A>C (p.Lys247Thr) | |
| 1 | g.173909749T= | CA1207936980 | SERPINC1 | c.956A= (p.Lys319=) n.607A= c.559+2115A= (n.559+2115A=) c.812A= (p.Lys271=) c.1079A= (p.Lys360=) c.1037A= (p.Lys346=) c.935A= (p.Lys312=) c.899A= (p.Lys300=) c.740A= (p.Lys247=) | |
| 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=) | |
| 1 | g.173909752G>A | CA343774114 | SERPINC1 | c.953C>T (p.Pro318Leu) n.604C>T c.559+2112C>T (n.559+2112C>T) c.809C>T (p.Pro270Leu) c.1076C>T (p.Pro359Leu) c.1034C>T (p.Pro345Leu) c.932C>T (p.Pro311Leu) c.896C>T (p.Pro299Leu) c.737C>T (p.Pro246Leu) | ClinVar dbSNP |
| 1 | g.173909752G>C | CA343774116 | SERPINC1 | c.953C>G (p.Pro318Arg) n.604C>G c.559+2112C>G (n.559+2112C>G) c.809C>G (p.Pro270Arg) c.1076C>G (p.Pro359Arg) c.1034C>G (p.Pro345Arg) c.932C>G (p.Pro311Arg) c.896C>G (p.Pro299Arg) c.737C>G (p.Pro246Arg) | |
| 1 | g.173909752G= | CA1207936981 | SERPINC1 | c.953C= (p.Pro318=) n.604C= c.559+2112C= (n.559+2112C=) c.809C= (p.Pro270=) c.1076C= (p.Pro359=) c.1034C= (p.Pro345=) c.932C= (p.Pro311=) c.896C= (p.Pro299=) c.737C= (p.Pro246=) | |
| 1 | g.173909752G>T | CA343774118 | SERPINC1 | c.953C>A (p.Pro318His) n.604C>A c.559+2112C>A (n.559+2112C>A) c.809C>A (p.Pro270His) c.1076C>A (p.Pro359His) c.1034C>A (p.Pro345His) c.932C>A (p.Pro311His) c.896C>A (p.Pro299His) c.737C>A (p.Pro246His) | |
| 1 | g.173909753G>A | CA343774120 | SERPINC1 | c.952C>T (p.Pro318Ser) n.603C>T c.559+2111C>T (n.559+2111C>T) c.808C>T (p.Pro270Ser) c.1075C>T (p.Pro359Ser) c.1033C>T (p.Pro345Ser) c.931C>T (p.Pro311Ser) c.895C>T (p.Pro299Ser) c.736C>T (p.Pro246Ser) | |
| 1 | g.173909753G>C | CA1251305 | SERPINC1 | c.952C>G (p.Pro318Ala) n.603C>G c.559+2111C>G (n.559+2111C>G) c.808C>G (p.Pro270Ala) c.1075C>G (p.Pro359Ala) c.1033C>G (p.Pro345Ala) c.931C>G (p.Pro311Ala) c.895C>G (p.Pro299Ala) c.736C>G (p.Pro246Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173909753G= | CA1207936982 | SERPINC1 | c.952C= (p.Pro318=) n.603C= c.559+2111C= (n.559+2111C=) c.808C= (p.Pro270=) c.1075C= (p.Pro359=) c.1033C= (p.Pro345=) c.931C= (p.Pro311=) c.895C= (p.Pro299=) c.736C= (p.Pro246=) | |
| 1 | g.173909753G>T | CA343774123 | SERPINC1 | c.952C>A (p.Pro318Thr) n.603C>A c.559+2111C>A (n.559+2111C>A) c.808C>A (p.Pro270Thr) c.1075C>A (p.Pro359Thr) c.1033C>A (p.Pro345Thr) c.931C>A (p.Pro311Thr) c.895C>A (p.Pro299Thr) c.736C>A (p.Pro246Thr) | |
| 1 | g.173909754C>A | CA343774127 | SERPINC1 | c.951G>T (p.Leu317Phe) n.602G>T c.559+2110G>T (n.559+2110G>T) c.807G>T (p.Leu269Phe) c.1074G>T (p.Leu358Phe) c.1032G>T (p.Leu344Phe) c.930G>T (p.Leu310Phe) c.894G>T (p.Leu298Phe) c.735G>T (p.Leu245Phe) | ClinVar dbSNP |
| 1 | g.173909754C= | CA1207936983 | SERPINC1 | c.951G= (p.Leu317=) n.602G= c.559+2110G= (n.559+2110G=) c.807G= (p.Leu269=) c.1074G= (p.Leu358=) c.1032G= (p.Leu344=) c.930G= (p.Leu310=) c.894G= (p.Leu298=) c.735G= (p.Leu245=) | |
| 1 | g.173909754C>G | CA343774125 | SERPINC1 | c.951G>C (p.Leu317Phe) n.602G>C c.559+2110G>C (n.559+2110G>C) c.807G>C (p.Leu269Phe) c.1074G>C (p.Leu358Phe) c.1032G>C (p.Leu344Phe) c.930G>C (p.Leu310Phe) c.894G>C (p.Leu298Phe) c.735G>C (p.Leu245Phe) | |
| 1 | g.173909754C>T | CA421943006 | SERPINC1 | c.951G>A (p.Leu317=) n.602G>A c.559+2110G>A (n.559+2110G>A) c.807G>A (p.Leu269=) c.1074G>A (p.Leu358=) c.1032G>A (p.Leu344=) c.930G>A (p.Leu310=) c.894G>A (p.Leu298=) c.735G>A (p.Leu245=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173909755A>C | CA343774129 | SERPINC1 | c.950T>G (p.Leu317Trp) n.601T>G c.559+2109T>G (n.559+2109T>G) c.806T>G (p.Leu269Trp) c.1073T>G (p.Leu358Trp) c.1031T>G (p.Leu344Trp) c.929T>G (p.Leu310Trp) c.893T>G (p.Leu298Trp) c.734T>G (p.Leu245Trp) | |
| 1 | g.173909755A>G | CA343774131 | SERPINC1 | c.950T>C (p.Leu317Ser) n.601T>C c.559+2109T>C (n.559+2109T>C) c.806T>C (p.Leu269Ser) c.1073T>C (p.Leu358Ser) c.1031T>C (p.Leu344Ser) c.929T>C (p.Leu310Ser) c.893T>C (p.Leu298Ser) c.734T>C (p.Leu245Ser) | |
| 1 | g.173909755A>T | CA343774133 | SERPINC1 | c.950T>A (p.Leu317Ter) n.601T>A c.559+2109T>A (n.559+2109T>A) c.806T>A (p.Leu269Ter) c.1073T>A (p.Leu358Ter) c.1031T>A (p.Leu344Ter) c.929T>A (p.Leu310Ter) c.893T>A (p.Leu298Ter) c.734T>A (p.Leu245Ter) | |
| 1 | g.173909756A= | CA1207936984 | SERPINC1 | c.949T= (p.Leu317=) n.600T= c.559+2108T= (n.559+2108T=) c.805T= (p.Leu269=) c.1072T= (p.Leu358=) c.1030T= (p.Leu344=) c.928T= (p.Leu310=) c.892T= (p.Leu298=) c.733T= (p.Leu245=) | |
| 1 | g.173909756A>C | CA343774135 | SERPINC1 | c.949T>G (p.Leu317Val) n.600T>G c.559+2108T>G (n.559+2108T>G) c.805T>G (p.Leu269Val) c.1072T>G (p.Leu358Val) c.1030T>G (p.Leu344Val) c.928T>G (p.Leu310Val) c.892T>G (p.Leu298Val) c.733T>G (p.Leu245Val) | |
| 1 | g.173909756A>G | CA421943008 | SERPINC1 | c.949T>C (p.Leu317=) n.600T>C c.559+2108T>C (n.559+2108T>C) c.805T>C (p.Leu269=) c.1072T>C (p.Leu358=) c.1030T>C (p.Leu344=) c.928T>C (p.Leu310=) c.892T>C (p.Leu298=) c.733T>C (p.Leu245=) | dbSNP |
| 1 | g.173909756A>T | CA343774136 | SERPINC1 | c.949T>A (p.Leu317Met) n.600T>A c.559+2108T>A (n.559+2108T>A) c.805T>A (p.Leu269Met) c.1072T>A (p.Leu358Met) c.1030T>A (p.Leu344Met) c.928T>A (p.Leu310Met) c.892T>A (p.Leu298Met) c.733T>A (p.Leu245Met) | |
| 1 | g.173909757del | CA2586964405 | SERPINC1 | c.948del (p.Leu317CysfsTer11) n.599del c.559+2107del (n.559+2107del) c.804del (p.Leu269CysfsTer11) c.1071del (p.Leu358CysfsTer11) c.1029del (p.Leu344CysfsTer11) c.927del (p.Leu310CysfsTer11) c.891del (p.Leu298CysfsTer11) c.732del (p.Leu245CysfsTer11) | |
| 1 | g.173909757G>A | CA421943010 | SERPINC1 | c.948C>T (p.Ile316=) n.599C>T c.559+2107C>T (n.559+2107C>T) c.804C>T (p.Ile268=) c.1071C>T (p.Ile357=) c.1029C>T (p.Ile343=) c.927C>T (p.Ile309=) c.891C>T (p.Ile297=) c.732C>T (p.Ile244=) | |
| 1 | g.173909757G>C | CA343774139 | SERPINC1 | c.948C>G (p.Ile316Met) n.599C>G c.559+2107C>G (n.559+2107C>G) c.804C>G (p.Ile268Met) c.1071C>G (p.Ile357Met) c.1029C>G (p.Ile343Met) c.927C>G (p.Ile309Met) c.891C>G (p.Ile297Met) c.732C>G (p.Ile244Met) | COSMIC |
| 1 | g.173909757G>T | CA421943011 | SERPINC1 | c.948C>A (p.Ile316=) n.599C>A c.559+2107C>A (n.559+2107C>A) c.804C>A (p.Ile268=) c.1071C>A (p.Ile357=) c.1029C>A (p.Ile343=) c.927C>A (p.Ile309=) c.891C>A (p.Ile297=) c.732C>A (p.Ile244=) | |
| 1 | g.173909758A>C | CA343774141 | SERPINC1 | c.947T>G (p.Ile316Ser) n.598T>G c.559+2106T>G (n.559+2106T>G) c.803T>G (p.Ile268Ser) c.1070T>G (p.Ile357Ser) c.1028T>G (p.Ile343Ser) c.926T>G (p.Ile309Ser) c.890T>G (p.Ile297Ser) c.731T>G (p.Ile244Ser) | |
| 1 | g.173909758A>G | CA343774144 | SERPINC1 | c.947T>C (p.Ile316Thr) n.598T>C c.559+2106T>C (n.559+2106T>C) c.803T>C (p.Ile268Thr) c.1070T>C (p.Ile357Thr) c.1028T>C (p.Ile343Thr) c.926T>C (p.Ile309Thr) c.890T>C (p.Ile297Thr) c.731T>C (p.Ile244Thr) | |
| 1 | g.173909758A>T | CA343774142 | SERPINC1 | c.947T>A (p.Ile316Asn) n.598T>A c.559+2106T>A (n.559+2106T>A) c.803T>A (p.Ile268Asn) c.1070T>A (p.Ile357Asn) c.1028T>A (p.Ile343Asn) c.926T>A (p.Ile309Asn) c.890T>A (p.Ile297Asn) c.731T>A (p.Ile244Asn) | |
| 1 | g.173909759T>A | CA343774146 | SERPINC1 | c.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 |
| 1 | g.173909759T>C | CA343774148 | SERPINC1 | c.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) | |
| 1 | g.173909759T>G | CA343774150 | SERPINC1 | c.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) | |
| 1 | g.173909759T= | CA1207936985 | SERPINC1 | c.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=) | |
| 1 | g.173909760G>A | CA421943014 | SERPINC1 | c.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=) | |
| 1 | g.173909760G>C | CA421943015 | SERPINC1 | c.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=) | |
| 1 | g.173909760G>T | CA421943016 | SERPINC1 | c.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=) | |
| 1 | g.173909761A>C | CA343774152 | SERPINC1 | c.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) | |
| 1 | g.173909761A>G | CA343774153 | SERPINC1 | c.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) | |
| 1 | g.173909761A>T | CA343774154 | SERPINC1 | c.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) | |
| 1 | g.173909762G>A | CA343774155 | SERPINC1 | c.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) | |
| 1 | g.173909762G>C | CA343774157 | SERPINC1 | c.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) | |
| 1 | g.173909762G>T | CA343774158 | SERPINC1 | c.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) | |
| 1 | g.173909763G>A | CA421942704 | SERPINC1 | c.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 |
| 1 | g.173909763G>C | CA421942705 | SERPINC1 | c.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 |
| 1 | g.173909763G= | CA1207936986 | SERPINC1 | c.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=) | |
| 1 | g.173909763G>T | CA421942706 | SERPINC1 | c.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=) | |
| 1 | g.173909764A= | CA1207936987 | SERPINC1 | c.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=) | |
| 1 | g.173909764A>C | CA343774160 | SERPINC1 | c.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) | |
| 1 | g.173909764A>G | CA1251306 | SERPINC1 | c.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 |
| 1 | g.173909764A>T | CA343774162 | SERPINC1 | c.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 |
| 1 | g.173909765C>A | CA343774167 | SERPINC1 | c.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 |
| 1 | g.173909765C>G | CA343774166 | SERPINC1 | c.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) | |
| 1 | g.173909765C>T | CA343774165 | SERPINC1 | c.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 |
| 1 | g.173909766C>A | CA343774171 | SERPINC1 | c.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) | |
| 1 | g.173909766C>G | CA343774170 | SERPINC1 | c.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) | |
| 1 | g.173909766C>T | CA343774173 | SERPINC1 | c.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) | |
| 1 | g.173909767A= | CA1207936988 | SERPINC1 | c.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=) | |
| 1 | g.173909767A>C | CA343774175 | SERPINC1 | c.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) | |
| 1 | g.173909767A>G | CA1251307 | SERPINC1 | c.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 |
| 1 | g.173909767A>T | CA343774177 | SERPINC1 | c.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) | |
| 1 | g.173909768T>A | CA343774180 | SERPINC1 | c.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) | |
| 1 | g.173909768T>C | CA343774181 | SERPINC1 | c.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) | |
| 1 | g.173909768T>G | CA343774183 | SERPINC1 | c.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) | |
| 1 | g.173909769G>A | CA421942707 | SERPINC1 | c.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=) | |
| 1 | g.173909769G>C | CA421942708 | SERPINC1 | c.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=) | |
| 1 | g.173909769G= | CA1207936989 | SERPINC1 | c.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=) | |
| 1 | g.173909769G>T | CA1251308 | SERPINC1 | c.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 |
| 1 | g.173909770G>A | CA1251309 | SERPINC1 | c.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 |
| 1 | g.173909770G>C | CA343774187 | SERPINC1 | c.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) | |
| 1 | g.173909770G= | CA1207936990 | SERPINC1 | c.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=) | |
| 1 | g.173909770G>T | CA343774189 | SERPINC1 | c.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) | |
| 1 | g.173909771T>A | CA343774191 | SERPINC1 | c.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) | |
| 1 | g.173909771T>C | CA343774192 | SERPINC1 | c.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 |
| 1 | g.173909771T>G | CA343774194 | SERPINC1 | c.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) | |
| 1 | g.173909772G>A | CA421942709 | SERPINC1 | c.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 |
| 1 | g.173909772G>C | CA343774195 | SERPINC1 | c.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) | |
| 1 | g.173909772G>T | CA421942710 | SERPINC1 | c.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=) | |
| 1 | g.173909773A>C | CA343774197 | SERPINC1 | c.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) | |
| 1 | g.173909773A>G | CA343774199 | SERPINC1 | c.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 |
| 1 | g.173909773A>T | CA343774201 | SERPINC1 | c.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) | |
| 1 | g.173909774T>A | CA343774203 | SERPINC1 | c.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) | |
| 1 | g.173909774T>C | CA343774205 | SERPINC1 | c.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) | |
| 1 | g.173909774T>G | CA343774206 | SERPINC1 | c.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) | |
| 1 | g.173909775G>A | CA421942711 | SERPINC1 | c.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=) | |
| 1 | g.173909775G>C | CA343774208 | SERPINC1 | c.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 |
| 1 | g.173909775G>T | CA343774210 | SERPINC1 | c.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) | |
| 1 | g.173909776T>A | CA343774212 | SERPINC1 | c.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) | |
| 1 | g.173909776T>C | CA343774214 | SERPINC1 | c.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) | |
| 1 | g.173909776T>G | CA343774216 | SERPINC1 | c.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) | |
| 1 | g.173909777C>A | CA343774217 | SERPINC1 | c.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 |
| 1 | g.173909777C>G | CA343774219 | SERPINC1 | c.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) | |
| 1 | g.173909777C>T | CA343774220 | SERPINC1 | c.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) | |
| 1 | g.173909778A= | CA1149156605 | SERPINC1 | c.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=) | |
| 1 | g.173909778A>C | CA343774222 | SERPINC1 | c.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) | |
| 1 | g.173909778A>G | CA1251310 | SERPINC1 | c.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 |
| 1 | g.173909778A>T | CA343774223 | SERPINC1 | c.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 |
| 1 | g.173909779T>A | CA343774226 | SERPINC1 | c.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) | |
| 1 | g.173909779T>C | CA343774228 | SERPINC1 | c.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) | |
| 1 | g.173909779T>G | CA343774229 | SERPINC1 | c.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) | |
| 1 | g.173909780C>A | CA343774231 | SERPINC1 | c.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) | |
| 1 | g.173909780C>G | CA343774233 | SERPINC1 | c.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) | |
| 1 | g.173909780C>T | CA343774235 | SERPINC1 | c.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 |
| 1 | g.173909781A= | CA1207936991 | SERPINC1 | c.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=) | |
| 1 | g.173909781A>C | CA421942712 | SERPINC1 | c.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 |
| 1 | g.173909781A>G | CA421942713 | SERPINC1 | c.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=) | |
| 1 | g.173909781A>T | CA421942714 | SERPINC1 | c.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=) | |
| 1 | g.173909782C>A | CA343774241 | SERPINC1 | c.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) | |
| 1 | g.173909782C>G | CA343774237 | SERPINC1 | c.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) | |
| 1 | g.173909782C>T | CA343774239 | SERPINC1 | c.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) | |
| 1 | g.173909783C>A | CA343774243 | SERPINC1 | c.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) | |
| 1 | g.173909783C= | CA1207936992 | SERPINC1 | c.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=) | |
| 1 | g.173909783C>G | CA343774244 | SERPINC1 | c.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) | |
| 1 | g.173909783C>T | CA343774246 | SERPINC1 | c.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 |
| 1 | g.173909784T>A | CA343774248 | SERPINC1 | c.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) | |
| 1 | g.173909784T>C | CA421942715 | SERPINC1 | c.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 |
| 1 | g.173909784T>G | CA343774249 | SERPINC1 | c.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) | |
| 1 | g.173909784T= | CA1207936993 | SERPINC1 | c.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=) | |
| 1 | g.173909784_173909888del | CA2586964406 | SERPINC1 | c.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) | |
| 1 | g.173909785T>A | CA343774251 | SERPINC1 | c.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) | |
| 1 | g.173909785T>C | CA343774254 | SERPINC1 | c.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 |
| 1 | g.173909785T>G | CA343774253 | SERPINC1 | c.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) | |
| 1 | g.173909786T>A | CA343774256 | SERPINC1 | c.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) | |
| 1 | g.173909786T>C | CA343774257 | SERPINC1 | c.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) | |
| 1 | g.173909786T>G | CA343774258 | SERPINC1 | c.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) | |
| 1 | g.173909787G>A | CA421942716 | SERPINC1 | c.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=) | |
| 1 | g.173909787G>C | CA343774260 | SERPINC1 | c.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) | |
| 1 | g.173909787G>T | CA343774262 | SERPINC1 | c.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) | |
| 1 | g.173909788A>C | CA343774264 | SERPINC1 | c.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) | |
| 1 | g.173909788A>G | CA343774266 | SERPINC1 | c.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) | |
| 1 | g.173909788A>T | CA343774268 | SERPINC1 | c.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) | |
| 1 | g.173909789A= | CA1207936994 | SERPINC1 | c.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=) | |
| 1 | g.173909789A>C | CA343774270 | SERPINC1 | c.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) | |
| 1 | g.173909789A>G | CA343774272 | SERPINC1 | c.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) | |
| 1 | g.173909789A>T | CA343774274 | SERPINC1 | c.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) | |
| 1 | g.173909790G>A | CA421942719 | SERPINC1 | c.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 |
| 1 | g.173909790G>C | CA421942718 | SERPINC1 | c.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=) | |
| 1 | g.173909790G= | CA1207936995 | SERPINC1 | c.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=) | |
| 1 | g.173909790G>T | CA421942717 | SERPINC1 | c.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=) | |
| 1 | g.173909792dup | CA891313347 | SERPINC1 | c.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 |
| 1 | g.173909791G>A | CA1251312 | SERPINC1 | c.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 |
| 1 | g.173909791G>C | CA343774277 | SERPINC1 | c.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) | |
| 1 | g.173909791G= | CA1145968789 | SERPINC1 | c.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=) | |
| 1 | g.173909791G>T | CA1251311 | SERPINC1 | c.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 |
| 1 | g.173909792G>A | CA343774279 | SERPINC1 | c.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 |
| 1 | g.173909792G>C | CA343774282 | SERPINC1 | c.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) | |
| 1 | g.173909792G= | CA1207936996 | SERPINC1 | c.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=) | |
| 1 | g.173909792G>T | CA343774281 | SERPINC1 | c.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 |
| 1 | g.173909793C>A | CA343774284 | SERPINC1 | c.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 |
| 1 | g.173909793C>G | CA343774285 | SERPINC1 | c.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) | |
| 1 | g.173909793C>T | CA421942720 | SERPINC1 | c.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=) | |
| 1 | g.173909794A>C | CA343774288 | SERPINC1 | c.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) | |
| 1 | g.173909794A>G | CA343774289 | SERPINC1 | c.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) | |
| 1 | g.173909794A>T | CA343774291 | SERPINC1 | c.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) | |
| 1 | g.173909795A= | CA1142368681 | SERPINC1 | c.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=) | |
| 1 | g.173909795A>C | CA343774293 | SERPINC1 | c.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) | |
| 1 | g.173909795A>G | CA1251313 | SERPINC1 | c.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 |
| 1 | g.173909795A>T | CA343774295 | SERPINC1 | c.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) | |
| 1 | g.173909796C>A | CA343774297 | SERPINC1 | c.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) | |
| 1 | g.173909796C>G | CA343774298 | SERPINC1 | c.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) | |
| 1 | g.173909796C>T | CA421942721 | SERPINC1 | c.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 |
| 1 | g.173909797T>A | CA343774300 | SERPINC1 | c.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) | |
| 1 | g.173909797T>C | CA343774301 | SERPINC1 | c.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) | |
| 1 | g.173909797T>G | CA343774303 | SERPINC1 | c.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) | |
| 1 | g.173909798C>A | CA343774309 | SERPINC1 | c.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 |
| 1 | g.173909798C= | CA1207936997 | SERPINC1 | c.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=) | |
| 1 | g.173909798C>G | CA343774307 | SERPINC1 | c.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) | |
| 1 | g.173909798C>T | CA343774305 | SERPINC1 | c.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 |
| 1 | g.173909798dup | CA2579753966 | SERPINC1 | c.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) |