Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
4 | g.186210528T>G | CA358950881 | CYP4V2,KLKB1 | c.1465T>G (p.Trp489Gly) n.700T>G n.6163T>G c.201+1256T>G n.555T>G c.1462T>G (p.Trp488Gly) c.1069T>G (p.Trp357Gly) | |
4 | g.186210528_186210529delinsTG | CA1519892074 | CYP4V2,KLKB1 | c.1465_1466delinsTG (p.Trp489=) n.700_701delinsTG n.6163_6164delinsTG c.201+1256_201+1257delinsTG n.555_556delinsTG c.1462_1463delinsTG (p.Trp488=) c.1069_1070delinsTG (p.Trp357=) | |
4 | g.186210528_186210538del | CA792329398 | CYP4V2,KLKB1 | c.1465_1475del (p.Trp489GlnfsTer19) n.700_710del n.6163_6173del c.201+1256_201+1266del n.555_565del c.1462_1472del (p.Trp488GlnfsTer19) c.1069_1079del (p.Trp357GlnfsTer19) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.186210529G>A | CA358950883 | CYP4V2,KLKB1 | c.1466G>A (p.Trp489Ter) n.701G>A n.6164G>A c.201+1257G>A n.556G>A c.1463G>A (p.Trp488Ter) c.1070G>A (p.Trp357Ter) | |
4 | g.186210529G>C | CA358950885 | CYP4V2,KLKB1 | c.1466G>C (p.Trp489Ser) n.701G>C n.6164G>C c.201+1257G>C n.556G>C c.1463G>C (p.Trp488Ser) c.1070G>C (p.Trp357Ser) | |
4 | g.186210529G>T | CA358950887 | CYP4V2,KLKB1 | c.1466G>T (p.Trp489Leu) n.701G>T n.6164G>T c.201+1257G>T n.556G>T c.1463G>T (p.Trp488Leu) c.1070G>T (p.Trp357Leu) | |
4 | g.186210530del | CA1519892075 | CYP4V2,KLKB1 | c.1467del (p.Trp489Ter) n.702del n.6165del c.201+1258del n.557del c.1464del (p.Trp488Ter) c.1071del (p.Trp357Ter) | dbSNP |
4 | g.186210530G>A | CA358950890 | CYP4V2,KLKB1 | c.1467G>A (p.Trp489Ter) n.702G>A n.6165G>A c.201+1258G>A n.557G>A c.1464G>A (p.Trp488Ter) c.1071G>A (p.Trp357Ter) | |
4 | g.186210530G>C | CA358950891 | CYP4V2,KLKB1 | c.1467G>C (p.Trp489Cys) n.702G>C n.6165G>C c.201+1258G>C n.557G>C c.1464G>C (p.Trp488Cys) c.1071G>C (p.Trp357Cys) | |
4 | g.186210530G>T | CA358950888 | CYP4V2,KLKB1 | c.1467G>T (p.Trp489Cys) n.702G>T n.6165G>T c.201+1258G>T n.557G>T c.1464G>T (p.Trp488Cys) c.1071G>T (p.Trp357Cys) | |
4 | g.186210531A>C | CA358950893 | CYP4V2,KLKB1 | c.1468A>C (p.Ile490Leu) n.703A>C n.6166A>C c.201+1259A>C n.558A>C c.1465A>C (p.Ile489Leu) c.1072A>C (p.Ile358Leu) | |
4 | g.186210531A>G | CA358950896 | CYP4V2,KLKB1 | c.1468A>G (p.Ile490Val) n.703A>G n.6166A>G c.201+1259A>G n.558A>G c.1465A>G (p.Ile489Val) c.1072A>G (p.Ile358Val) | |
4 | g.186210531A>T | CA358950895 | CYP4V2,KLKB1 | c.1468A>T (p.Ile490Leu) n.703A>T n.6166A>T c.201+1259A>T n.558A>T c.1465A>T (p.Ile489Leu) c.1072A>T (p.Ile358Leu) | |
4 | g.186210532T>A | CA358950899 | CYP4V2,KLKB1 | c.1469T>A (p.Ile490Lys) n.704T>A n.6167T>A c.201+1260T>A n.559T>A c.1466T>A (p.Ile489Lys) c.1073T>A (p.Ile358Lys) | gnomAD v4 |
4 | g.186210532T>C | CA358950903 | CYP4V2,KLKB1 | c.1469T>C (p.Ile490Thr) n.704T>C n.6167T>C c.201+1260T>C n.559T>C c.1466T>C (p.Ile489Thr) c.1073T>C (p.Ile358Thr) | |
4 | g.186210532T>G | CA358950900 | CYP4V2,KLKB1 | c.1469T>G (p.Ile490Arg) n.704T>G n.6167T>G c.201+1260T>G n.559T>G c.1466T>G (p.Ile489Arg) c.1073T>G (p.Ile358Arg) | |
4 | g.186210533A>C | CA442641203 | CYP4V2,KLKB1 | c.1470A>C (p.Ile490=) n.705A>C n.6168A>C c.201+1261A>C n.560A>C c.1467A>C (p.Ile489=) c.1074A>C (p.Ile358=) | |
4 | g.186210533A>G | CA358950904 | CYP4V2,KLKB1 | c.1470A>G (p.Ile490Met) n.705A>G n.6168A>G c.201+1261A>G n.560A>G c.1467A>G (p.Ile489Met) c.1074A>G (p.Ile358Met) | ClinVar |
4 | g.186210533A>T | CA442641204 | CYP4V2,KLKB1 | c.1470A>T (p.Ile490=) n.705A>T n.6168A>T c.201+1261A>T n.560A>T c.1467A>T (p.Ile489=) c.1074A>T (p.Ile358=) | |
4 | g.186210534_186210540del | CA2672898195 | CYP4V2,KLKB1 | c.1471_1477del (p.Glu491ThrfsTer9) n.706_712del n.6169_6175del c.201+1262_201+1268del n.561_567del c.1468_1474del (p.Glu490ThrfsTer9) c.1075_1081del (p.Glu359ThrfsTer9) | gnomAD v4 |
4 | g.186210534G>A | CA358950910 | CYP4V2,KLKB1 | c.1471G>A (p.Glu491Lys) n.706G>A n.6169G>A c.201+1262G>A n.561G>A c.1468G>A (p.Glu490Lys) c.1075G>A (p.Glu359Lys) | |
4 | g.186210534G>C | CA358950906 | CYP4V2,KLKB1 | c.1471G>C (p.Glu491Gln) n.706G>C n.6169G>C c.201+1262G>C n.561G>C c.1468G>C (p.Glu490Gln) c.1075G>C (p.Glu359Gln) | dbSNP |
4 | g.186210534G= | CA1519892076 | CYP4V2,KLKB1 | c.1471G= (p.Glu491=) n.706G= n.6169G= c.201+1262G= n.561G= c.1468G= (p.Glu490=) c.1075G= (p.Glu359=) | |
4 | g.186210534G>T | CA358950908 | CYP4V2,KLKB1 | c.1471G>T (p.Glu491Ter) n.706G>T n.6169G>T c.201+1262G>T n.561G>T c.1468G>T (p.Glu490Ter) c.1075G>T (p.Glu359Ter) | COSMIC |
4 | g.186210534_186210535insGGC | CA645540548 | CYP4V2,KLKB1 | c.1471_1472insGGC (p.Glu491delinsGlyGln) n.706_707insGGC n.6169_6170insGGC c.201+1262_201+1263insGGC n.561_562insGGC c.1468_1469insGGC (p.Glu490delinsGlyGln) c.1075_1076insGGC (p.Glu359delinsGlyGln) | COSMIC |