Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.186210515C>ACA442641193CYP4V2,KLKB1c.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=)
4g.186210515C=CA1519892068CYP4V2,KLKB1c.1452C= (p.Ile484=)
n.687C=
n.6150C=
c.201+1243C=
n.542C=
c.1449C= (p.Ile483=)
c.1056C= (p.Ile352=)
4g.186210515C>GCA358950834CYP4V2,KLKB1c.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)
4g.186210515C>TCA3162870CYP4V2,KLKB1c.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
4g.186210516C>ACA358950835CYP4V2,KLKB1c.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)
4g.186210516C=CA1519892069CYP4V2,KLKB1c.1453C= (p.Leu485=)
n.688C=
n.6151C=
c.201+1244C=
n.543C=
c.1450C= (p.Leu484=)
c.1057C= (p.Leu353=)
4g.186210516C>GCA358950836CYP4V2,KLKB1c.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)
4g.186210516C>TCA3162871CYP4V2,KLKB1c.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
4g.186210517T>ACA358950838CYP4V2,KLKB1c.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)
4g.186210517T>CCA358950840CYP4V2,KLKB1c.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
4g.186210517T>GCA358950841CYP4V2,KLKB1c.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)
4g.186210518G>ACA112136494CYP4V2,KLKB1c.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
4g.186210518G>CCA442641195CYP4V2,KLKB1c.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=)
4g.186210518G=CA1519892070CYP4V2,KLKB1c.1455G= (p.Leu485=)
n.690G=
n.6153G=
c.201+1246G=
n.545G=
c.1452G= (p.Leu484=)
c.1059G= (p.Leu353=)
4g.186210518G>TCA442641196CYP4V2,KLKB1c.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=)
4g.186210519A=CA1519892071CYP4V2,KLKB1c.1456A= (p.Arg486=)
n.691A=
n.6154A=
c.201+1247A=
n.546A=
c.1453A= (p.Arg485=)
c.1060A= (p.Arg354=)
4g.186210519A>CCA442641198CYP4V2,KLKB1c.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=)
4g.186210519A>GCA358950843CYP4V2,KLKB1c.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
4g.186210519A>TCA3162872CYP4V2,KLKB1c.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
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

Number of alleles fetched