Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.186210514T>A | CA358950831 | CYP4V2,KLKB1 | c.1451T>A (p.Ile484Asn) n.686T>A n.6149T>A c.201+1242T>A n.541T>A c.1448T>A (p.Ile483Asn) c.1055T>A (p.Ile352Asn) | |
4 | g.186210514T>C | CA358950832 | CYP4V2,KLKB1 | c.1451T>C (p.Ile484Thr) n.686T>C n.6149T>C c.201+1242T>C n.541T>C c.1448T>C (p.Ile483Thr) c.1055T>C (p.Ile352Thr) | |
4 | g.186210514T>G | CA358950833 | CYP4V2,KLKB1 | c.1451T>G (p.Ile484Ser) n.686T>G n.6149T>G c.201+1242T>G n.541T>G c.1448T>G (p.Ile483Ser) c.1055T>G (p.Ile352Ser) | |
4 | g.186210515C>A | CA442641193 | CYP4V2,KLKB1 | c.1452C>A (p.Ile484=) n.687C>A n.6150C>A c.201+1243C>A n.542C>A c.1449C>A (p.Ile483=) c.1056C>A (p.Ile352=) | |
4 | g.186210515C= | CA1519892068 | CYP4V2,KLKB1 | c.1452C= (p.Ile484=) n.687C= n.6150C= c.201+1243C= n.542C= c.1449C= (p.Ile483=) c.1056C= (p.Ile352=) | |
4 | g.186210515C>G | CA358950834 | CYP4V2,KLKB1 | c.1452C>G (p.Ile484Met) n.687C>G n.6150C>G c.201+1243C>G n.542C>G c.1449C>G (p.Ile483Met) c.1056C>G (p.Ile352Met) | |
4 | g.186210515C>T | CA3162870 | CYP4V2,KLKB1 | c.1452C>T (p.Ile484=) n.687C>T n.6150C>T c.201+1243C>T n.542C>T c.1449C>T (p.Ile483=) c.1056C>T (p.Ile352=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186210516C>A | CA358950835 | CYP4V2,KLKB1 | c.1453C>A (p.Leu485Met) n.688C>A n.6151C>A c.201+1244C>A n.543C>A c.1450C>A (p.Leu484Met) c.1057C>A (p.Leu353Met) | |
4 | g.186210516C= | CA1519892069 | CYP4V2,KLKB1 | c.1453C= (p.Leu485=) n.688C= n.6151C= c.201+1244C= n.543C= c.1450C= (p.Leu484=) c.1057C= (p.Leu353=) | |
4 | g.186210516C>G | CA358950836 | CYP4V2,KLKB1 | c.1453C>G (p.Leu485Val) n.688C>G n.6151C>G c.201+1244C>G n.543C>G c.1450C>G (p.Leu484Val) c.1057C>G (p.Leu353Val) | |
4 | g.186210516C>T | CA3162871 | CYP4V2,KLKB1 | c.1453C>T (p.Leu485=) n.688C>T n.6151C>T c.201+1244C>T n.543C>T c.1450C>T (p.Leu484=) c.1057C>T (p.Leu353=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186210517T>A | CA358950838 | CYP4V2,KLKB1 | c.1454T>A (p.Leu485Gln) n.689T>A n.6152T>A c.201+1245T>A n.544T>A c.1451T>A (p.Leu484Gln) c.1058T>A (p.Leu353Gln) | |
4 | g.186210517T>C | CA358950840 | CYP4V2,KLKB1 | c.1454T>C (p.Leu485Pro) n.689T>C n.6152T>C c.201+1245T>C n.544T>C c.1451T>C (p.Leu484Pro) c.1058T>C (p.Leu353Pro) | COSMIC |
4 | g.186210517T>G | CA358950841 | CYP4V2,KLKB1 | c.1454T>G (p.Leu485Arg) n.689T>G n.6152T>G c.201+1245T>G n.544T>G c.1451T>G (p.Leu484Arg) c.1058T>G (p.Leu353Arg) | |
4 | g.186210518G>A | CA112136494 | CYP4V2,KLKB1 | c.1455G>A (p.Leu485=) n.690G>A n.6153G>A c.201+1246G>A n.545G>A c.1452G>A (p.Leu484=) c.1059G>A (p.Leu353=) | dbSNP |
4 | g.186210518G>C | CA442641195 | CYP4V2,KLKB1 | c.1455G>C (p.Leu485=) n.690G>C n.6153G>C c.201+1246G>C n.545G>C c.1452G>C (p.Leu484=) c.1059G>C (p.Leu353=) | |
4 | g.186210518G= | CA1519892070 | CYP4V2,KLKB1 | c.1455G= (p.Leu485=) n.690G= n.6153G= c.201+1246G= n.545G= c.1452G= (p.Leu484=) c.1059G= (p.Leu353=) | |
4 | g.186210518G>T | CA442641196 | CYP4V2,KLKB1 | c.1455G>T (p.Leu485=) n.690G>T n.6153G>T c.201+1246G>T n.545G>T c.1452G>T (p.Leu484=) c.1059G>T (p.Leu353=) | |
4 | g.186210519A= | CA1519892071 | CYP4V2,KLKB1 | c.1456A= (p.Arg486=) n.691A= n.6154A= c.201+1247A= n.546A= c.1453A= (p.Arg485=) c.1060A= (p.Arg354=) | |
4 | g.186210519A>C | CA442641198 | CYP4V2,KLKB1 | c.1456A>C (p.Arg486=) n.691A>C n.6154A>C c.201+1247A>C n.546A>C c.1453A>C (p.Arg485=) c.1060A>C (p.Arg354=) | |
4 | g.186210519A>G | CA358950843 | CYP4V2,KLKB1 | c.1456A>G (p.Arg486Gly) n.691A>G n.6154A>G c.201+1247A>G n.546A>G c.1453A>G (p.Arg485Gly) c.1060A>G (p.Arg354Gly) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.186210519A>T | CA3162872 | CYP4V2,KLKB1 | c.1456A>T (p.Arg486Trp) n.691A>T n.6154A>T c.201+1247A>T n.546A>T c.1453A>T (p.Arg485Trp) c.1060A>T (p.Arg354Trp) | dbSNP ExAC gnomAD v2 |
4 | g.186210520G>A | CA358950846 | CYP4V2,KLKB1 | c.1457G>A (p.Arg486Lys) n.692G>A n.6155G>A c.201+1248G>A n.547G>A c.1454G>A (p.Arg485Lys) c.1061G>A (p.Arg354Lys) | |
4 | g.186210520G>C | CA358950847 | CYP4V2,KLKB1 | c.1457G>C (p.Arg486Thr) n.692G>C n.6155G>C c.201+1248G>C n.547G>C c.1454G>C (p.Arg485Thr) c.1061G>C (p.Arg354Thr) | |
4 | g.186210520G>T | CA358950849 | CYP4V2,KLKB1 | c.1457G>T (p.Arg486Met) n.692G>T n.6155G>T c.201+1248G>T n.547G>T c.1454G>T (p.Arg485Met) c.1061G>T (p.Arg354Met) | |
4 | g.186210521G>A | CA442641199 | CYP4V2,KLKB1 | c.1458G>A (p.Arg486=) n.693G>A n.6156G>A c.201+1249G>A n.548G>A c.1455G>A (p.Arg485=) c.1062G>A (p.Arg354=) | |
4 | g.186210521G>C | CA358950851 | CYP4V2,KLKB1 | c.1458G>C (p.Arg486Ser) n.693G>C n.6156G>C c.201+1249G>C n.548G>C c.1455G>C (p.Arg485Ser) c.1062G>C (p.Arg354Ser) | |
4 | g.186210521G>T | CA358950853 | CYP4V2,KLKB1 | c.1458G>T (p.Arg486Ser) n.693G>T n.6156G>T c.201+1249G>T n.548G>T c.1455G>T (p.Arg485Ser) c.1062G>T (p.Arg354Ser) | |
4 | g.186210522C>A | CA358950855 | CYP4V2,KLKB1 | c.1459C>A (p.His487Asn) n.694C>A n.6157C>A c.201+1250C>A n.549C>A c.1456C>A (p.His486Asn) c.1063C>A (p.His355Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.186210522C= | CA1519892072 | CYP4V2,KLKB1 | c.1459C= (p.His487=) n.694C= n.6157C= c.201+1250C= n.549C= c.1456C= (p.His486=) c.1063C= (p.His355=) | |
4 | g.186210522C>G | CA3162874 | CYP4V2,KLKB1 | c.1459C>G (p.His487Asp) n.694C>G n.6157C>G c.201+1250C>G n.549C>G c.1456C>G (p.His486Asp) c.1063C>G (p.His355Asp) | dbSNP ExAC gnomAD v2 COSMIC |
4 | g.186210522C>T | CA3162873 | CYP4V2,KLKB1 | c.1459C>T (p.His487Tyr) n.694C>T n.6157C>T c.201+1250C>T n.549C>T c.1456C>T (p.His486Tyr) c.1063C>T (p.His355Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186210523A>C | CA358950857 | CYP4V2,KLKB1 | c.1460A>C (p.His487Pro) n.695A>C n.6158A>C c.201+1251A>C n.550A>C c.1457A>C (p.His486Pro) c.1064A>C (p.His355Pro) | |
4 | g.186210523A>G | CA358950859 | CYP4V2,KLKB1 | c.1460A>G (p.His487Arg) n.695A>G n.6158A>G c.201+1251A>G n.550A>G c.1457A>G (p.His486Arg) c.1064A>G (p.His355Arg) | |
4 | g.186210523A>T | CA358950860 | CYP4V2,KLKB1 | c.1460A>T (p.His487Leu) n.695A>T n.6158A>T c.201+1251A>T n.550A>T c.1457A>T (p.His486Leu) c.1064A>T (p.His355Leu) | |
4 | g.186210524C>A | CA358950861 | CYP4V2,KLKB1 | c.1461C>A (p.His487Gln) n.696C>A n.6159C>A c.201+1252C>A n.551C>A c.1458C>A (p.His486Gln) c.1065C>A (p.His355Gln) | |
4 | g.186210524C>G | CA358950862 | CYP4V2,KLKB1 | c.1461C>G (p.His487Gln) n.696C>G n.6159C>G c.201+1252C>G n.551C>G c.1458C>G (p.His486Gln) c.1065C>G (p.His355Gln) | |
4 | g.186210524C>T | CA442641201 | CYP4V2,KLKB1 | c.1461C>T (p.His487=) n.696C>T n.6159C>T c.201+1252C>T n.551C>T c.1458C>T (p.His486=) c.1065C>T (p.His355=) | gnomAD v4 |
4 | g.186210525T>A | CA358950865 | CYP4V2,KLKB1 | c.1462T>A (p.Phe488Ile) n.697T>A n.6160T>A c.201+1253T>A n.552T>A c.1459T>A (p.Phe487Ile) c.1066T>A (p.Phe356Ile) | |
4 | g.186210525T>C | CA358950868 | CYP4V2,KLKB1 | c.1462T>C (p.Phe488Leu) n.697T>C n.6160T>C c.201+1253T>C n.552T>C c.1459T>C (p.Phe487Leu) c.1066T>C (p.Phe356Leu) | |
4 | g.186210525T>G | CA358950866 | CYP4V2,KLKB1 | c.1462T>G (p.Phe488Val) n.697T>G n.6160T>G c.201+1253T>G n.552T>G c.1459T>G (p.Phe487Val) c.1066T>G (p.Phe356Val) | ClinVar |
4 | g.186210526T>A | CA358950870 | CYP4V2,KLKB1 | c.1463T>A (p.Phe488Tyr) n.698T>A n.6161T>A c.201+1254T>A n.553T>A c.1460T>A (p.Phe487Tyr) c.1067T>A (p.Phe356Tyr) | |
4 | g.186210526T>C | CA358950872 | CYP4V2,KLKB1 | c.1463T>C (p.Phe488Ser) n.698T>C n.6161T>C c.201+1254T>C n.553T>C c.1460T>C (p.Phe487Ser) c.1067T>C (p.Phe356Ser) | |
4 | g.186210526T>G | CA358950874 | CYP4V2,KLKB1 | c.1463T>G (p.Phe488Cys) n.698T>G n.6161T>G c.201+1254T>G n.553T>G c.1460T>G (p.Phe487Cys) c.1067T>G (p.Phe356Cys) | |
4 | g.186210527T>A | CA358950875 | CYP4V2,KLKB1 | c.1464T>A (p.Phe488Leu) n.699T>A n.6162T>A c.201+1255T>A n.554T>A c.1461T>A (p.Phe487Leu) c.1068T>A (p.Phe356Leu) | |
4 | g.186210527T>C | CA442641202 | CYP4V2,KLKB1 | c.1464T>C (p.Phe488=) n.699T>C n.6162T>C c.201+1255T>C n.554T>C c.1461T>C (p.Phe487=) c.1068T>C (p.Phe356=) | |
4 | g.186210527T>G | CA358950876 | CYP4V2,KLKB1 | c.1464T>G (p.Phe488Leu) n.699T>G n.6162T>G c.201+1255T>G n.554T>G c.1461T>G (p.Phe487Leu) c.1068T>G (p.Phe356Leu) | |
4 | g.186210527_186210538delinsTTGGATAGAATC | CA1519892073 | CYP4V2,KLKB1 | c.1464_1475delinsTTGGATAGAATC (p.Phe488=) n.699_710delinsTTGGATAGAATC n.6162_6173delinsTTGGATAGAATC c.201+1255_201+1266delinsTTGGATAGAATC n.554_565delinsTTGGATAGAATC c.1461_1472delinsTTGGATAGAATC (p.Phe487=) c.1068_1079delinsTTGGATAGAATC (p.Phe356=) | |
4 | g.186210528T>A | CA358950877 | CYP4V2,KLKB1 | c.1465T>A (p.Trp489Arg) n.700T>A n.6163T>A c.201+1256T>A n.555T>A c.1462T>A (p.Trp488Arg) c.1069T>A (p.Trp357Arg) | |
4 | g.186210528T>C | CA358950879 | CYP4V2,KLKB1 | c.1465T>C (p.Trp489Arg) n.700T>C n.6163T>C c.201+1256T>C n.555T>C c.1462T>C (p.Trp488Arg) c.1069T>C (p.Trp357Arg) | gnomAD v4 |