Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.186210520G>ACA358950846CYP4V2,KLKB1c.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)
4g.186210520G>CCA358950847CYP4V2,KLKB1c.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)
4g.186210520G>TCA358950849CYP4V2,KLKB1c.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)
4g.186210521G>ACA442641199CYP4V2,KLKB1c.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=)
4g.186210521G>CCA358950851CYP4V2,KLKB1c.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)
4g.186210521G>TCA358950853CYP4V2,KLKB1c.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)
4g.186210522C>ACA358950855CYP4V2,KLKB1c.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
4g.186210522C=CA1519892072CYP4V2,KLKB1c.1459C= (p.His487=)
n.694C=
n.6157C=
c.201+1250C=
n.549C=
c.1456C= (p.His486=)
c.1063C= (p.His355=)
4g.186210522C>GCA3162874CYP4V2,KLKB1c.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
4g.186210522C>TCA3162873CYP4V2,KLKB1c.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
4g.186210523A>CCA358950857CYP4V2,KLKB1c.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)
4g.186210523A>GCA358950859CYP4V2,KLKB1c.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)
4g.186210523A>TCA358950860CYP4V2,KLKB1c.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)
4g.186210524C>ACA358950861CYP4V2,KLKB1c.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)
4g.186210524C>GCA358950862CYP4V2,KLKB1c.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)
4g.186210524C>TCA442641201CYP4V2,KLKB1c.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
4g.186210525T>ACA358950865CYP4V2,KLKB1c.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)
4g.186210525T>CCA358950868CYP4V2,KLKB1c.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)
4g.186210525T>GCA358950866CYP4V2,KLKB1c.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
4g.186210526T>ACA358950870CYP4V2,KLKB1c.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)
4g.186210526T>CCA358950872CYP4V2,KLKB1c.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)
4g.186210526T>GCA358950874CYP4V2,KLKB1c.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)
4g.186210527T>ACA358950875CYP4V2,KLKB1c.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)
4g.186210527T>CCA442641202CYP4V2,KLKB1c.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=)
4g.186210527T>GCA358950876CYP4V2,KLKB1c.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)
4g.186210527_186210538delinsTTGGATAGAATCCA1519892073CYP4V2,KLKB1c.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=)
4g.186210528T>ACA358950877CYP4V2,KLKB1c.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)
4g.186210528T>CCA358950879CYP4V2,KLKB1c.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
4g.186210528T>GCA358950881CYP4V2,KLKB1c.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)
4g.186210528_186210529delinsTGCA1519892074CYP4V2,KLKB1c.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=)
4g.186210528_186210538delCA792329398CYP4V2,KLKB1c.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
4g.186210529G>ACA358950883CYP4V2,KLKB1c.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)
4g.186210529G>CCA358950885CYP4V2,KLKB1c.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)
4g.186210529G>TCA358950887CYP4V2,KLKB1c.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)
4g.186210530delCA1519892075CYP4V2,KLKB1c.1467del (p.Trp489Ter)
n.702del
n.6165del
c.201+1258del
n.557del
c.1464del (p.Trp488Ter)
c.1071del (p.Trp357Ter)
 dbSNP
4g.186210530G>ACA358950890CYP4V2,KLKB1c.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)
4g.186210530G>CCA358950891CYP4V2,KLKB1c.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)
4g.186210530G>TCA358950888CYP4V2,KLKB1c.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)
4g.186210531A>CCA358950893CYP4V2,KLKB1c.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)
4g.186210531A>GCA358950896CYP4V2,KLKB1c.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)
4g.186210531A>TCA358950895CYP4V2,KLKB1c.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)
4g.186210532T>ACA358950899CYP4V2,KLKB1c.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
4g.186210532T>CCA358950903CYP4V2,KLKB1c.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)
4g.186210532T>GCA358950900CYP4V2,KLKB1c.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)
4g.186210533A>CCA442641203CYP4V2,KLKB1c.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=)
4g.186210533A>GCA358950904CYP4V2,KLKB1c.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
4g.186210533A>TCA442641204CYP4V2,KLKB1c.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=)
4g.186210534_186210540delCA2672898195CYP4V2,KLKB1c.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
4g.186210534G>ACA358950910CYP4V2,KLKB1c.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)
4g.186210534G>CCA358950906CYP4V2,KLKB1c.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

Number of alleles fetched