Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.186209153_186209178dupCA2672897705CYP4V2,KLKB1c.1286_1311dup (p.Glu438IlefsTer?)
n.521_546dup
n.5984_6009dup
c.82_107dup
n.376_401dup
c.1283_1308dup (p.Glu437IlefsTer?)
c.890_915dup (p.Glu306IlefsTer?)
gnomAD v4
4g.186209167C>ACA358950496CYP4V2,KLKB1c.1300C>A (p.Pro434Thr)
n.535C>A
n.5998C>A
c.96C>A
n.390C>A
c.1297C>A (p.Pro433Thr)
c.904C>A (p.Pro302Thr)
4g.186209167C>GCA358950497CYP4V2,KLKB1c.1300C>G (p.Pro434Ala)
n.535C>G
n.5998C>G
c.96C>G
n.390C>G
c.1297C>G (p.Pro433Ala)
c.904C>G (p.Pro302Ala)
4g.186209167C>TCA358950498CYP4V2,KLKB1c.1300C>T (p.Pro434Ser)
n.535C>T
n.5998C>T
c.96C>T
n.390C>T
c.1297C>T (p.Pro433Ser)
c.904C>T (p.Pro302Ser)
4g.186209168C>ACA358950499CYP4V2,KLKB1c.1301C>A (p.Pro434His)
n.536C>A
n.5999C>A
c.97C>A
n.391C>A
c.1298C>A (p.Pro433His)
c.905C>A (p.Pro302His)
4g.186209168C=CA1519891443CYP4V2,KLKB1c.1301C= (p.Pro434=)
n.536C=
n.5999C=
c.97C=
n.391C=
c.1298C= (p.Pro433=)
c.905C= (p.Pro302=)
4g.186209168C>GCA358950500CYP4V2,KLKB1c.1301C>G (p.Pro434Arg)
n.536C>G
n.5999C>G
c.97C>G
n.391C>G
c.1298C>G (p.Pro433Arg)
c.905C>G (p.Pro302Arg)
4g.186209168C>TCA3162821CYP4V2,KLKB1c.1301C>T (p.Pro434Leu)
n.536C>T
n.5999C>T
c.97C>T
n.391C>T
c.1298C>T (p.Pro433Leu)
c.905C>T (p.Pro302Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209169C>ACA442882561CYP4V2,KLKB1c.1302C>A (p.Pro434=)
n.537C>A
n.6000C>A
c.98C>A
n.392C>A
c.1299C>A (p.Pro433=)
c.906C>A (p.Pro302=)
4g.186209169C=CA1519891444CYP4V2,KLKB1c.1302C= (p.Pro434=)
n.537C=
n.6000C=
c.98C=
n.392C=
c.1299C= (p.Pro433=)
c.906C= (p.Pro302=)
4g.186209169C>GCA442882563CYP4V2,KLKB1c.1302C>G (p.Pro434=)
n.537C>G
n.6000C>G
c.98C>G
n.392C>G
c.1299C>G (p.Pro433=)
c.906C>G (p.Pro302=)
4g.186209169C>TCA442882565CYP4V2,KLKB1c.1302C>T (p.Pro434=)
n.537C>T
n.6000C>T
c.98C>T
n.392C>T
c.1299C>T (p.Pro433=)
c.906C>T (p.Pro302=)
dbSNP
4g.186209170A>CCA358950503CYP4V2,KLKB1c.1303A>C (p.Asn435His)
n.538A>C
n.6001A>C
c.99A>C
n.393A>C
c.1300A>C (p.Asn434His)
c.907A>C (p.Asn303His)
4g.186209170A>GCA358950501CYP4V2,KLKB1c.1303A>G (p.Asn435Asp)
n.538A>G
n.6001A>G
c.99A>G
n.393A>G
c.1300A>G (p.Asn434Asp)
c.907A>G (p.Asn303Asp)
4g.186209170A>TCA358950502CYP4V2,KLKB1c.1303A>T (p.Asn435Tyr)
n.538A>T
n.6001A>T
c.99A>T
n.393A>T
c.1300A>T (p.Asn434Tyr)
c.907A>T (p.Asn303Tyr)
4g.186209171A=CA1519891445CYP4V2,KLKB1c.1304A= (p.Asn435=)
n.539A=
n.6002A=
c.100A=
n.394A=
c.1301A= (p.Asn434=)
c.908A= (p.Asn303=)
4g.186209171A>CCA358950504CYP4V2,KLKB1c.1304A>C (p.Asn435Thr)
n.539A>C
n.6002A>C
c.100A>C
n.394A>C
c.1301A>C (p.Asn434Thr)
c.908A>C (p.Asn303Thr)
dbSNP
4g.186209171A>GCA358950505CYP4V2,KLKB1c.1304A>G (p.Asn435Ser)
n.539A>G
n.6002A>G
c.100A>G
n.394A>G
c.1301A>G (p.Asn434Ser)
c.908A>G (p.Asn303Ser)
4g.186209171A>TCA358950506CYP4V2,KLKB1c.1304A>T (p.Asn435Ile)
n.539A>T
n.6002A>T
c.100A>T
n.394A>T
c.1301A>T (p.Asn434Ile)
c.908A>T (p.Asn303Ile)
4g.186209172C>ACA358950507CYP4V2,KLKB1c.1305C>A (p.Asn435Lys)
n.540C>A
n.6003C>A
c.101C>A
n.395C>A
c.1302C>A (p.Asn434Lys)
c.909C>A (p.Asn303Lys)
gnomAD v4
4g.186209172C>GCA358950508CYP4V2,KLKB1c.1305C>G (p.Asn435Lys)
n.540C>G
n.6003C>G
c.101C>G
n.395C>G
c.1302C>G (p.Asn434Lys)
c.909C>G (p.Asn303Lys)
4g.186209172C>TCA442882576CYP4V2,KLKB1c.1305C>T (p.Asn435=)
n.540C>T
n.6003C>T
c.101C>T
n.395C>T
c.1302C>T (p.Asn434=)
c.909C>T (p.Asn303=)
4g.186209173C>ACA358950509CYP4V2,KLKB1c.1306C>A (p.Pro436Thr)
n.541C>A
n.6004C>A
c.102C>A
n.396C>A
c.1303C>A (p.Pro435Thr)
c.910C>A (p.Pro304Thr)
4g.186209173C=CA1519891446CYP4V2,KLKB1c.1306C= (p.Pro436=)
n.541C=
n.6004C=
c.102C=
n.396C=
c.1303C= (p.Pro435=)
c.910C= (p.Pro304=)
4g.186209173C>GCA358950510CYP4V2,KLKB1c.1306C>G (p.Pro436Ala)
n.541C>G
n.6004C>G
c.102C>G
n.396C>G
c.1303C>G (p.Pro435Ala)
c.910C>G (p.Pro304Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.186209173C>TCA358950511CYP4V2,KLKB1c.1306C>T (p.Pro436Ser)
n.541C>T
n.6004C>T
c.102C>T
n.396C>T
c.1303C>T (p.Pro435Ser)
c.910C>T (p.Pro304Ser)
4g.186209174C>ACA358950512CYP4V2,KLKB1c.1307C>A (p.Pro436His)
n.542C>A
n.6005C>A
c.103C>A
n.397C>A
c.1304C>A (p.Pro435His)
c.911C>A (p.Pro304His)
4g.186209174C=CA1519891447CYP4V2,KLKB1c.1307C= (p.Pro436=)
n.542C=
n.6005C=
c.103C=
n.397C=
c.1304C= (p.Pro435=)
c.911C= (p.Pro304=)
4g.186209174C>GCA358950513CYP4V2,KLKB1c.1307C>G (p.Pro436Arg)
n.542C>G
n.6005C>G
c.103C>G
n.397C>G
c.1304C>G (p.Pro435Arg)
c.911C>G (p.Pro304Arg)
ClinVar gnomAD v4
4g.186209174C>TCA358950514CYP4V2,KLKB1c.1307C>T (p.Pro436Leu)
n.542C>T
n.6005C>T
c.103C>T
n.397C>T
c.1304C>T (p.Pro435Leu)
c.911C>T (p.Pro304Leu)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.186209175C>ACA442882586CYP4V2,KLKB1c.1308C>A (p.Pro436=)
n.543C>A
n.6006C>A
c.104C>A
n.398C>A
c.1305C>A (p.Pro435=)
c.912C>A (p.Pro304=)
gnomAD v4
4g.186209175C=CA1519891448CYP4V2,KLKB1c.1308C= (p.Pro436=)
n.543C=
n.6006C=
c.104C=
n.398C=
c.1305C= (p.Pro435=)
c.912C= (p.Pro304=)
4g.186209175C>GCA3162823CYP4V2,KLKB1c.1308C>G (p.Pro436=)
n.543C>G
n.6006C>G
c.104C>G
n.398C>G
c.1305C>G (p.Pro435=)
c.912C>G (p.Pro304=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209175C>TCA3162822CYP4V2,KLKB1c.1308C>T (p.Pro436=)
n.543C>T
n.6006C>T
c.104C>T
n.398C>T
c.1305C>T (p.Pro435=)
c.912C>T (p.Pro304=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.186209176delCA2764868835CYP4V2,KLKB1c.1309del (p.Glu437ArgfsTer?)
n.544del
n.6007del
c.105del
n.399del
c.1306del (p.Glu436ArgfsTer?)
c.913del (p.Glu305ArgfsTer?)
4g.186209176G>ACA3162824CYP4V2,KLKB1c.1309G>A (p.Glu437Lys)
n.544G>A
n.6007G>A
c.105G>A
n.399G>A
c.1306G>A (p.Glu436Lys)
c.913G>A (p.Glu305Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209176G>CCA358950515CYP4V2,KLKB1c.1309G>C (p.Glu437Gln)
n.544G>C
n.6007G>C
c.105G>C
n.399G>C
c.1306G>C (p.Glu436Gln)
c.913G>C (p.Glu305Gln)
4g.186209176G=CA1519891449CYP4V2,KLKB1c.1309G= (p.Glu437=)
n.544G=
n.6007G=
c.105G=
n.399G=
c.1306G= (p.Glu436=)
c.913G= (p.Glu305=)
4g.186209176G>TCA358950516CYP4V2,KLKB1c.1309G>T (p.Glu437Ter)
n.544G>T
n.6007G>T
c.105G>T
n.399G>T
c.1306G>T (p.Glu436Ter)
c.913G>T (p.Glu305Ter)
4g.186209177A>CCA358950517CYP4V2,KLKB1c.1310A>C (p.Glu437Ala)
n.545A>C
n.6008A>C
c.106A>C
n.400A>C
c.1307A>C (p.Glu436Ala)
c.914A>C (p.Glu305Ala)
4g.186209177A>GCA358950518CYP4V2,KLKB1c.1310A>G (p.Glu437Gly)
n.545A>G
n.6008A>G
c.106A>G
n.400A>G
c.1307A>G (p.Glu436Gly)
c.914A>G (p.Glu305Gly)
4g.186209177A>TCA358950519CYP4V2,KLKB1c.1310A>T (p.Glu437Val)
n.545A>T
n.6008A>T
c.106A>T
n.400A>T
c.1307A>T (p.Glu436Val)
c.914A>T (p.Glu305Val)
4g.186209178G>ACA442882598CYP4V2,KLKB1c.1311G>A (p.Glu437=)
n.546G>A
n.6009G>A
c.107G>A
n.401G>A
c.1308G>A (p.Glu436=)
c.915G>A (p.Glu305=)
gnomAD v4
4g.186209178G>CCA358950521CYP4V2,KLKB1c.1311G>C (p.Glu437Asp)
n.546G>C
n.6009G>C
c.107G>C
n.401G>C
c.1308G>C (p.Glu436Asp)
c.915G>C (p.Glu305Asp)
4g.186209178G>TCA358950520CYP4V2,KLKB1c.1311G>T (p.Glu437Asp)
n.546G>T
n.6009G>T
c.107G>T
n.401G>T
c.1308G>T (p.Glu436Asp)
c.915G>T (p.Glu305Asp)
4g.186209179G>ACA3162825CYP4V2,KLKB1c.1312G>A (p.Glu438Lys)
n.547G>A
n.6010G>A
c.108G>A
n.402G>A
c.1309G>A (p.Glu437Lys)
c.916G>A (p.Glu306Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209179G>CCA358950522CYP4V2,KLKB1c.1312G>C (p.Glu438Gln)
n.547G>C
n.6010G>C
c.108G>C
n.402G>C
c.1309G>C (p.Glu437Gln)
c.916G>C (p.Glu306Gln)
4g.186209179G=CA1519891450CYP4V2,KLKB1c.1312G= (p.Glu438=)
n.547G=
n.6010G=
c.108G=
n.402G=
c.1309G= (p.Glu437=)
c.916G= (p.Glu306=)
4g.186209179G>TCA358950523CYP4V2,KLKB1c.1312G>T (p.Glu438Ter)
n.547G>T
n.6010G>T
c.108G>T
n.402G>T
c.1309G>T (p.Glu437Ter)
c.916G>T (p.Glu306Ter)
4g.186209180A>CCA358950524CYP4V2,KLKB1c.1313A>C (p.Glu438Ala)
n.548A>C
n.6011A>C
c.109A>C
n.403A>C
c.1310A>C (p.Glu437Ala)
c.917A>C (p.Glu306Ala)
4g.186209180A>GCA358950525CYP4V2,KLKB1c.1313A>G (p.Glu438Gly)
n.548A>G
n.6011A>G
c.109A>G
n.403A>G
c.1310A>G (p.Glu437Gly)
c.917A>G (p.Glu306Gly)
4g.186209180A>TCA358950526CYP4V2,KLKB1c.1313A>T (p.Glu438Val)
n.548A>T
n.6011A>T
c.109A>T
n.403A>T
c.1310A>T (p.Glu437Val)
c.917A>T (p.Glu306Val)
4g.186209181G>ACA3162826CYP4V2,KLKB1c.1314G>A (p.Glu438=)
n.549G>A
n.6012G>A
c.110G>A
n.404G>A
c.1311G>A (p.Glu437=)
c.918G>A (p.Glu306=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209181G>CCA358950528CYP4V2,KLKB1c.1314G>C (p.Glu438Asp)
n.549G>C
n.6012G>C
c.110G>C
n.404G>C
c.1311G>C (p.Glu437Asp)
c.918G>C (p.Glu306Asp)
4g.186209181G=CA1519891451CYP4V2,KLKB1c.1314G= (p.Glu438=)
n.549G=
n.6012G=
c.110G=
n.404G=
c.1311G= (p.Glu437=)
c.918G= (p.Glu306=)
4g.186209181G>TCA358950527CYP4V2,KLKB1c.1314G>T (p.Glu438Asp)
n.549G>T
n.6012G>T
c.110G>T
n.404G>T
c.1311G>T (p.Glu437Asp)
c.918G>T (p.Glu306Asp)
4g.186209182T>ACA358950529CYP4V2,KLKB1c.1315T>A (p.Phe439Ile)
n.550T>A
n.6013T>A
c.111T>A
n.405T>A
c.1312T>A (p.Phe438Ile)
c.919T>A (p.Phe307Ile)
4g.186209182T>CCA358950530CYP4V2,KLKB1c.1315T>C (p.Phe439Leu)
n.550T>C
n.6013T>C
c.111T>C
n.405T>C
c.1312T>C (p.Phe438Leu)
c.919T>C (p.Phe307Leu)
4g.186209182T>GCA358950531CYP4V2,KLKB1c.1315T>G (p.Phe439Val)
n.550T>G
n.6013T>G
c.111T>G
n.405T>G
c.1312T>G (p.Phe438Val)
c.919T>G (p.Phe307Val)
dbSNP gnomAD v2 gnomAD v4
4g.186209182T=CA1519891452CYP4V2,KLKB1c.1315T= (p.Phe439=)
n.550T=
n.6013T=
c.111T=
n.405T=
c.1312T= (p.Phe438=)
c.919T= (p.Phe307=)
4g.186209183T>ACA3162827CYP4V2,KLKB1c.1316T>A (p.Phe439Tyr)
n.551T>A
n.6014T>A
c.112T>A
n.406T>A
c.1313T>A (p.Phe438Tyr)
c.920T>A (p.Phe307Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.186209183T>CCA358950532CYP4V2,KLKB1c.1316T>C (p.Phe439Ser)
n.551T>C
n.6014T>C
c.112T>C
n.406T>C
c.1313T>C (p.Phe438Ser)
c.920T>C (p.Phe307Ser)
4g.186209183T>GCA358950533CYP4V2,KLKB1c.1316T>G (p.Phe439Cys)
n.551T>G
n.6014T>G
c.112T>G
n.406T>G
c.1313T>G (p.Phe438Cys)
c.920T>G (p.Phe307Cys)
4g.186209183T=CA1519891453CYP4V2,KLKB1c.1316T= (p.Phe439=)
n.551T=
n.6014T=
c.112T=
n.406T=
c.1313T= (p.Phe438=)
c.920T= (p.Phe307=)
4g.186209184C>ACA358950534CYP4V2,KLKB1c.1317C>A (p.Phe439Leu)
n.552C>A
n.6015C>A
c.113C>A
n.407C>A
c.1314C>A (p.Phe438Leu)
c.921C>A (p.Phe307Leu)
4g.186209184C=CA1519891454CYP4V2,KLKB1c.1317C= (p.Phe439=)
n.552C=
n.6015C=
c.113C=
n.407C=
c.1314C= (p.Phe438=)
c.921C= (p.Phe307=)
4g.186209184C>GCA358950535CYP4V2,KLKB1c.1317C>G (p.Phe439Leu)
n.552C>G
n.6015C>G
c.113C>G
n.407C>G
c.1314C>G (p.Phe438Leu)
c.921C>G (p.Phe307Leu)
4g.186209184C>TCA442882625CYP4V2,KLKB1c.1317C>T (p.Phe439=)
n.552C>T
n.6015C>T
c.113C>T
n.407C>T
c.1314C>T (p.Phe438=)
c.921C>T (p.Phe307=)
dbSNP
4g.186209185C>ACA358950536CYP4V2,KLKB1c.1318C>A (p.Gln440Lys)
n.553C>A
n.6016C>A
c.114C>A
n.408C>A
c.1315C>A (p.Gln439Lys)
c.922C>A (p.Gln308Lys)
4g.186209185C=CA1519891455CYP4V2,KLKB1c.1318C= (p.Gln440=)
n.553C=
n.6016C=
c.114C=
n.408C=
c.1315C= (p.Gln439=)
c.922C= (p.Gln308=)
4g.186209185C>GCA358950537CYP4V2,KLKB1c.1318C>G (p.Gln440Glu)
n.553C>G
n.6016C>G
c.114C>G
n.408C>G
c.1315C>G (p.Gln439Glu)
c.922C>G (p.Gln308Glu)
4g.186209185C>TCA358950538CYP4V2,KLKB1c.1318C>T (p.Gln440Ter)
n.553C>T
n.6016C>T
c.114C>T
n.408C>T
c.1315C>T (p.Gln439Ter)
c.922C>T (p.Gln308Ter)
ClinVar dbSNP
4g.186209186A>CCA358950541CYP4V2,KLKB1c.1319A>C (p.Gln440Pro)
n.554A>C
n.6017A>C
c.115A>C
n.409A>C
c.1316A>C (p.Gln439Pro)
c.923A>C (p.Gln308Pro)
4g.186209186A>GCA358950540CYP4V2,KLKB1c.1319A>G (p.Gln440Arg)
n.554A>G
n.6017A>G
c.115A>G
n.409A>G
c.1316A>G (p.Gln439Arg)
c.923A>G (p.Gln308Arg)
4g.186209186A>TCA358950539CYP4V2,KLKB1c.1319A>T (p.Gln440Leu)
n.554A>T
n.6017A>T
c.115A>T
n.409A>T
c.1316A>T (p.Gln439Leu)
c.923A>T (p.Gln308Leu)
gnomAD v4
4g.186209187G>ACA442882636CYP4V2,KLKB1c.1320G>A (p.Gln440=)
n.555G>A
n.6018G>A
c.116G>A
n.410G>A
c.1317G>A (p.Gln439=)
c.924G>A (p.Gln308=)
4g.186209187G>CCA358950542CYP4V2,KLKB1c.1320G>C (p.Gln440His)
n.555G>C
n.6018G>C
c.116G>C
n.410G>C
c.1317G>C (p.Gln439His)
c.924G>C (p.Gln308His)
4g.186209187G=CA1519891456CYP4V2,KLKB1c.1320G= (p.Gln440=)
n.555G=
n.6018G=
c.116G=
n.410G=
c.1317G= (p.Gln439=)
c.924G= (p.Gln308=)
4g.186209187G>TCA358950543CYP4V2,KLKB1c.1320G>T (p.Gln440His)
n.555G>T
n.6018G>T
c.116G>T
n.410G>T
c.1317G>T (p.Gln439His)
c.924G>T (p.Gln308His)
dbSNP gnomAD v2 gnomAD v4
4g.186209188C>ACA358950544CYP4V2,KLKB1c.1321C>A (p.Pro441Thr)
n.556C>A
n.6019C>A
c.117C>A
n.411C>A
c.1318C>A (p.Pro440Thr)
c.925C>A (p.Pro309Thr)
gnomAD v4
4g.186209188C>GCA358950545CYP4V2,KLKB1c.1321C>G (p.Pro441Ala)
n.556C>G
n.6019C>G
c.117C>G
n.411C>G
c.1318C>G (p.Pro440Ala)
c.925C>G (p.Pro309Ala)
4g.186209188C>TCA358950546CYP4V2,KLKB1c.1321C>T (p.Pro441Ser)
n.556C>T
n.6019C>T
c.117C>T
n.411C>T
c.1318C>T (p.Pro440Ser)
c.925C>T (p.Pro309Ser)
gnomAD v4
4g.186209189C>ACA358950547CYP4V2,KLKB1c.1322C>A (p.Pro441His)
n.557C>A
n.6020C>A
c.118C>A
n.412C>A
c.1319C>A (p.Pro440His)
c.926C>A (p.Pro309His)
4g.186209189C>GCA358950548CYP4V2,KLKB1c.1322C>G (p.Pro441Arg)
n.557C>G
n.6020C>G
c.118C>G
n.412C>G
c.1319C>G (p.Pro440Arg)
c.926C>G (p.Pro309Arg)
4g.186209189C>TCA358950549CYP4V2,KLKB1c.1322C>T (p.Pro441Leu)
n.557C>T
n.6020C>T
c.118C>T
n.412C>T
c.1319C>T (p.Pro440Leu)
c.926C>T (p.Pro309Leu)
4g.186209190T>ACA442882645CYP4V2,KLKB1c.1323T>A (p.Pro441=)
n.558T>A
n.6021T>A
c.119T>A
n.413T>A
c.1320T>A (p.Pro440=)
c.927T>A (p.Pro309=)
4g.186209190T>CCA442882649CYP4V2,KLKB1c.1323T>C (p.Pro441=)
n.558T>C
n.6021T>C
c.119T>C
n.413T>C
c.1320T>C (p.Pro440=)
c.927T>C (p.Pro309=)
4g.186209190T>GCA442882647CYP4V2,KLKB1c.1323T>G (p.Pro441=)
n.558T>G
n.6021T>G
c.119T>G
n.413T>G
c.1320T>G (p.Pro440=)
c.927T>G (p.Pro309=)
4g.186209191G>ACA3162828CYP4V2,KLKB1c.1324G>A (p.Glu442Lys)
n.559G>A
n.6022G>A
c.120G>A
n.414G>A
c.1321G>A (p.Glu441Lys)
c.928G>A (p.Glu310Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209191G>CCA358950550CYP4V2,KLKB1c.1324G>C (p.Glu442Gln)
n.559G>C
n.6022G>C
c.120G>C
n.414G>C
c.1321G>C (p.Glu441Gln)
c.928G>C (p.Glu310Gln)
4g.186209191G=CA1519891457CYP4V2,KLKB1c.1324G= (p.Glu442=)
n.559G=
n.6022G=
c.120G=
n.414G=
c.1321G= (p.Glu441=)
c.928G= (p.Glu310=)
4g.186209191G>TCA358950551CYP4V2,KLKB1c.1324G>T (p.Glu442Ter)
n.559G>T
n.6022G>T
c.120G>T
n.414G>T
c.1321G>T (p.Glu441Ter)
c.928G>T (p.Glu310Ter)
4g.186209192A>CCA358950552CYP4V2,KLKB1c.1325A>C (p.Glu442Ala)
n.560A>C
n.6023A>C
c.121A>C
n.415A>C
c.1322A>C (p.Glu441Ala)
c.929A>C (p.Glu310Ala)
4g.186209192A>GCA358950553CYP4V2,KLKB1c.1325A>G (p.Glu442Gly)
n.560A>G
n.6023A>G
c.121A>G
n.415A>G
c.1322A>G (p.Glu441Gly)
c.929A>G (p.Glu310Gly)
4g.186209192A>TCA358950554CYP4V2,KLKB1c.1325A>T (p.Glu442Val)
n.560A>T
n.6023A>T
c.121A>T
n.415A>T
c.1322A>T (p.Glu441Val)
c.929A>T (p.Glu310Val)
4g.186209193G>ACA442882672CYP4V2,KLKB1c.1326G>A (p.Glu442=)
n.561G>A
n.6024G>A
c.122G>A
n.416G>A
c.1323G>A (p.Glu441=)
c.930G>A (p.Glu310=)
4g.186209193G>CCA358950556CYP4V2,KLKB1c.1326G>C (p.Glu442Asp)
n.561G>C
n.6024G>C
c.122G>C
n.416G>C
c.1323G>C (p.Glu441Asp)
c.930G>C (p.Glu310Asp)
4g.186209193G>TCA358950555CYP4V2,KLKB1c.1326G>T (p.Glu442Asp)
n.561G>T
n.6024G>T
c.122G>T
n.416G>T
c.1323G>T (p.Glu441Asp)
c.930G>T (p.Glu310Asp)
4g.186209194C>ACA442882677CYP4V2,KLKB1c.1327C>A (p.Arg443=)
n.562C>A
n.6025C>A
c.123C>A
n.417C>A
c.1324C>A (p.Arg442=)
c.931C>A (p.Arg311=)
4g.186209194C=CA1519891458CYP4V2,KLKB1c.1327C= (p.Arg443=)
n.562C=
n.6025C=
c.123C=
n.417C=
c.1324C= (p.Arg442=)
c.931C= (p.Arg311=)
4g.186209194C>GCA358950557CYP4V2,KLKB1c.1327C>G (p.Arg443Gly)
n.562C>G
n.6025C>G
c.123C>G
n.417C>G
c.1324C>G (p.Arg442Gly)
c.931C>G (p.Arg311Gly)
4g.186209194C>TCA3162829CYP4V2,KLKB1c.1327C>T (p.Arg443Trp)
n.562C>T
n.6025C>T
c.123C>T
n.417C>T
c.1324C>T (p.Arg442Trp)
c.931C>T (p.Arg311Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.186209195G>ACA3162830CYP4V2,KLKB1c.1328G>A (p.Arg443Gln)
n.563G>A
n.6026G>A
c.124G>A
n.418G>A
c.1325G>A (p.Arg442Gln)
c.932G>A (p.Arg311Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209195G>CCA358950558CYP4V2,KLKB1c.1328G>C (p.Arg443Pro)
n.563G>C
n.6026G>C
c.124G>C
n.418G>C
c.1325G>C (p.Arg442Pro)
c.932G>C (p.Arg311Pro)
gnomAD v4
4g.186209195G=CA1519891459CYP4V2,KLKB1c.1328G= (p.Arg443=)
n.563G=
n.6026G=
c.124G=
n.418G=
c.1325G= (p.Arg442=)
c.932G= (p.Arg311=)
4g.186209195G>TCA358950559CYP4V2,KLKB1c.1328G>T (p.Arg443Leu)
n.563G>T
n.6026G>T
c.124G>T
n.418G>T
c.1325G>T (p.Arg442Leu)
c.932G>T (p.Arg311Leu)
4g.186209196G>ACA3162831CYP4V2,KLKB1c.1329G>A (p.Arg443=)
n.564G>A
n.6027G>A
c.125G>A
n.419G>A
c.1326G>A (p.Arg442=)
c.933G>A (p.Arg311=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209196G>CCA442882686CYP4V2,KLKB1c.1329G>C (p.Arg443=)
n.564G>C
n.6027G>C
c.125G>C
n.419G>C
c.1326G>C (p.Arg442=)
c.933G>C (p.Arg311=)
dbSNP gnomAD v2 gnomAD v4
4g.186209196G=CA1519891460CYP4V2,KLKB1c.1329G= (p.Arg443=)
n.564G=
n.6027G=
c.125G=
n.419G=
c.1326G= (p.Arg442=)
c.933G= (p.Arg311=)
4g.186209196G>TCA442882691CYP4V2,KLKB1c.1329G>T (p.Arg443=)
n.564G>T
n.6027G>T
c.125G>T
n.419G>T
c.1326G>T (p.Arg442=)
c.933G>T (p.Arg311=)
4g.186209197T>ACA358950560CYP4V2,KLKB1c.1330T>A (p.Phe444Ile)
n.565T>A
n.6028T>A
c.126T>A
n.420T>A
c.1327T>A (p.Phe443Ile)
c.934T>A (p.Phe312Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.186209197T>CCA358950561CYP4V2,KLKB1c.1330T>C (p.Phe444Leu)
n.565T>C
n.6028T>C
c.126T>C
n.420T>C
c.1327T>C (p.Phe443Leu)
c.934T>C (p.Phe312Leu)
4g.186209197T>GCA358950562CYP4V2,KLKB1c.1330T>G (p.Phe444Val)
n.565T>G
n.6028T>G
c.126T>G
n.420T>G
c.1327T>G (p.Phe443Val)
c.934T>G (p.Phe312Val)
4g.186209197T=CA1519891461CYP4V2,KLKB1c.1330T= (p.Phe444=)
n.565T=
n.6028T=
c.126T=
n.420T=
c.1327T= (p.Phe443=)
c.934T= (p.Phe312=)
4g.186209198T>ACA358950563CYP4V2,KLKB1c.1331T>A (p.Phe444Tyr)
n.566T>A
n.6029T>A
c.127T>A
n.421T>A
c.1328T>A (p.Phe443Tyr)
c.935T>A (p.Phe312Tyr)
4g.186209198T>CCA358950564CYP4V2,KLKB1c.1331T>C (p.Phe444Ser)
n.566T>C
n.6029T>C
c.127T>C
n.421T>C
c.1328T>C (p.Phe443Ser)
c.935T>C (p.Phe312Ser)
gnomAD v4
4g.186209198T>GCA358950565CYP4V2,KLKB1c.1331T>G (p.Phe444Cys)
n.566T>G
n.6029T>G
c.127T>G
n.421T>G
c.1328T>G (p.Phe443Cys)
c.935T>G (p.Phe312Cys)
4g.186209199C>ACA358950567CYP4V2,KLKB1c.1332C>A (p.Phe444Leu)
n.567C>A
n.6030C>A
c.128C>A
n.422C>A
c.1329C>A (p.Phe443Leu)
c.936C>A (p.Phe312Leu)
4g.186209199C=CA1519891462CYP4V2,KLKB1c.1332C= (p.Phe444=)
n.567C=
n.6030C=
c.128C=
n.422C=
c.1329C= (p.Phe443=)
c.936C= (p.Phe312=)
4g.186209199C>GCA358950566CYP4V2,KLKB1c.1332C>G (p.Phe444Leu)
n.567C>G
n.6030C>G
c.128C>G
n.422C>G
c.1329C>G (p.Phe443Leu)
c.936C>G (p.Phe312Leu)
4g.186209199C>TCA442882704CYP4V2,KLKB1c.1332C>T (p.Phe444=)
n.567C>T
n.6030C>T
c.128C>T
n.422C>T
c.1329C>T (p.Phe443=)
c.936C>T (p.Phe312=)
dbSNP COSMIC
4g.186209200T>ACA358950568CYP4V2,KLKB1c.1333T>A (p.Phe445Ile)
n.568T>A
n.6031T>A
c.129T>A
n.423T>A
c.1330T>A (p.Phe444Ile)
c.937T>A (p.Phe313Ile)
COSMIC
4g.186209200T>CCA358950569CYP4V2,KLKB1c.1333T>C (p.Phe445Leu)
n.568T>C
n.6031T>C
c.129T>C
n.423T>C
c.1330T>C (p.Phe444Leu)
c.937T>C (p.Phe313Leu)
dbSNP
4g.186209200T>GCA358950570CYP4V2,KLKB1c.1333T>G (p.Phe445Val)
n.568T>G
n.6031T>G
c.129T>G
n.423T>G
c.1330T>G (p.Phe444Val)
c.937T>G (p.Phe313Val)
4g.186209200T=CA1519891463CYP4V2,KLKB1c.1333T= (p.Phe445=)
n.568T=
n.6031T=
c.129T=
n.423T=
c.1330T= (p.Phe444=)
c.937T= (p.Phe313=)
4g.186209201delCA442882710CYP4V2,KLKB1c.1334del (p.Phe445SerfsTer24)
n.569del
n.6032del
c.130del
n.424del
c.1331del (p.Phe444SerfsTer24)
c.938del (p.Phe313SerfsTer24)
COSMIC
4g.186209201T>ACA358950571CYP4V2,KLKB1c.1334T>A (p.Phe445Tyr)
n.569T>A
n.6032T>A
c.130T>A
n.424T>A
c.1331T>A (p.Phe444Tyr)
c.938T>A (p.Phe313Tyr)
4g.186209201T>CCA358950572CYP4V2,KLKB1c.1334T>C (p.Phe445Ser)
n.569T>C
n.6032T>C
c.130T>C
n.424T>C
c.1331T>C (p.Phe444Ser)
c.938T>C (p.Phe313Ser)
dbSNP
4g.186209201T>GCA358950573CYP4V2,KLKB1c.1334T>G (p.Phe445Cys)
n.569T>G
n.6032T>G
c.130T>G
n.424T>G
c.1331T>G (p.Phe444Cys)
c.938T>G (p.Phe313Cys)
4g.186209201T=CA1519891465CYP4V2,KLKB1c.1334T= (p.Phe445=)
n.569T=
n.6032T=
c.130T=
n.424T=
c.1331T= (p.Phe444=)
c.938T= (p.Phe313=)
4g.186209201_186209202delinsTCCA1519891464CYP4V2,KLKB1c.1334_1335delinsTC (p.Phe445=)
n.569_570delinsTC
n.6032_6033delinsTC
c.130_131delinsTC
n.424_425delinsTC
c.1331_1332delinsTC (p.Phe444=)
c.938_939delinsTC (p.Phe313=)
4g.186209202C>ACA358950574CYP4V2,KLKB1c.1335C>A (p.Phe445Leu)
n.570C>A
n.6033C>A
c.131C>A
n.425C>A
c.1332C>A (p.Phe444Leu)
c.939C>A (p.Phe313Leu)
4g.186209202C>GCA358950575CYP4V2,KLKB1c.1335C>G (p.Phe445Leu)
n.570C>G
n.6033C>G
c.131C>G
n.425C>G
c.1332C>G (p.Phe444Leu)
c.939C>G (p.Phe313Leu)
4g.186209202C>TCA442882718CYP4V2,KLKB1c.1335C>T (p.Phe445=)
n.570C>T
n.6033C>T
c.131C>T
n.425C>T
c.1332C>T (p.Phe444=)
c.939C>T (p.Phe313=)
COSMIC
4g.186209205dupCA1519891466CYP4V2,KLKB1c.1338dup (p.Glu447ArgfsTer?)
n.573dup
n.6036dup
c.134dup
n.428dup
c.1335dup (p.Glu446ArgfsTer?)
c.942dup (p.Glu315ArgfsTer?)
dbSNP
4g.186209205delCA3162832CYP4V2,KLKB1c.1338del (p.Glu447ArgfsTer22)
n.573del
n.6036del
c.134del
n.428del
c.1335del (p.Glu446ArgfsTer22)
c.942del (p.Glu315ArgfsTer22)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209203C>ACA358950576CYP4V2,KLKB1c.1336C>A (p.Pro446Thr)
n.571C>A
n.6034C>A
c.132C>A
n.426C>A
c.1333C>A (p.Pro445Thr)
c.940C>A (p.Pro314Thr)
4g.186209203C>GCA358950577CYP4V2,KLKB1c.1336C>G (p.Pro446Ala)
n.571C>G
n.6034C>G
c.132C>G
n.426C>G
c.1333C>G (p.Pro445Ala)
c.940C>G (p.Pro314Ala)
4g.186209203C>TCA358950578CYP4V2,KLKB1c.1336C>T (p.Pro446Ser)
n.571C>T
n.6034C>T
c.132C>T
n.426C>T
c.1333C>T (p.Pro445Ser)
c.940C>T (p.Pro314Ser)
gnomAD v4 COSMIC
4g.186209204C>ACA358950580CYP4V2,KLKB1c.1337C>A (p.Pro446His)
n.572C>A
n.6035C>A
c.133C>A
n.427C>A
c.1334C>A (p.Pro445His)
c.941C>A (p.Pro314His)
4g.186209204C=CA1519891467CYP4V2,KLKB1c.1337C= (p.Pro446=)
n.572C=
n.6035C=
c.133C=
n.427C=
c.1334C= (p.Pro445=)
c.941C= (p.Pro314=)
4g.186209204C>GCA358950581CYP4V2,KLKB1c.1337C>G (p.Pro446Arg)
n.572C>G
n.6035C>G
c.133C>G
n.427C>G
c.1334C>G (p.Pro445Arg)
c.941C>G (p.Pro314Arg)
gnomAD v4
4g.186209204C>TCA358950579CYP4V2,KLKB1c.1337C>T (p.Pro446Leu)
n.572C>T
n.6035C>T
c.133C>T
n.427C>T
c.1334C>T (p.Pro445Leu)
c.941C>T (p.Pro314Leu)
dbSNP gnomAD v3 gnomAD v4
4g.186209205C>ACA442882731CYP4V2,KLKB1c.1338C>A (p.Pro446=)
n.573C>A
n.6036C>A
c.134C>A
n.428C>A
c.1335C>A (p.Pro445=)
c.942C>A (p.Pro314=)
4g.186209205C=CA1519891468CYP4V2,KLKB1c.1338C= (p.Pro446=)
n.573C=
n.6036C=
c.134C=
n.428C=
c.1335C= (p.Pro445=)
c.942C= (p.Pro314=)
4g.186209205C>GCA3162833CYP4V2,KLKB1c.1338C>G (p.Pro446=)
n.573C>G
n.6036C>G
c.134C>G
n.428C>G
c.1335C>G (p.Pro445=)
c.942C>G (p.Pro314=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209205C>TCA3162834CYP4V2,KLKB1c.1338C>T (p.Pro446=)
n.573C>T
n.6036C>T
c.134C>T
n.428C>T
c.1335C>T (p.Pro445=)
c.942C>T (p.Pro314=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209206G>ACA3162835CYP4V2,KLKB1c.1339G>A (p.Glu447Lys)
n.574G>A
n.6037G>A
c.135G>A
n.429G>A
c.1336G>A (p.Glu446Lys)
c.943G>A (p.Glu315Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209206G>CCA358950582CYP4V2,KLKB1c.1339G>C (p.Glu447Gln)
n.574G>C
n.6037G>C
c.135G>C
n.429G>C
c.1336G>C (p.Glu446Gln)
c.943G>C (p.Glu315Gln)
4g.186209206G=CA1519891469CYP4V2,KLKB1c.1339G= (p.Glu447=)
n.574G=
n.6037G=
c.135G=
n.429G=
c.1336G= (p.Glu446=)
c.943G= (p.Glu315=)
4g.186209206G>TCA358950583CYP4V2,KLKB1c.1339G>T (p.Glu447Ter)
n.574G>T
n.6037G>T
c.135G>T
n.429G>T
c.1336G>T (p.Glu446Ter)
c.943G>T (p.Glu315Ter)
4g.186209207A>CCA358950586CYP4V2,KLKB1c.1340A>C (p.Glu447Ala)
n.575A>C
n.6038A>C
c.136A>C
n.430A>C
c.1337A>C (p.Glu446Ala)
c.944A>C (p.Glu315Ala)
4g.186209207A>GCA358950584CYP4V2,KLKB1c.1340A>G (p.Glu447Gly)
n.575A>G
n.6038A>G
c.136A>G
n.430A>G
c.1337A>G (p.Glu446Gly)
c.944A>G (p.Glu315Gly)
4g.186209207A>TCA358950585CYP4V2,KLKB1c.1340A>T (p.Glu447Val)
n.575A>T
n.6038A>T
c.136A>T
n.430A>T
c.1337A>T (p.Glu446Val)
c.944A>T (p.Glu315Val)
4g.186209208G>ACA442882744CYP4V2,KLKB1c.1341G>A (p.Glu447=)
n.576G>A
n.6039G>A
c.137G>A
n.431G>A
c.1338G>A (p.Glu446=)
c.945G>A (p.Glu315=)
gnomAD v4
4g.186209208G>CCA358950587CYP4V2,KLKB1c.1341G>C (p.Glu447Asp)
n.576G>C
n.6039G>C
c.137G>C
n.431G>C
c.1338G>C (p.Glu446Asp)
c.945G>C (p.Glu315Asp)
4g.186209208G>TCA358950588CYP4V2,KLKB1c.1341G>T (p.Glu447Asp)
n.576G>T
n.6039G>T
c.137G>T
n.431G>T
c.1338G>T (p.Glu446Asp)
c.945G>T (p.Glu315Asp)
4g.186209209A>CCA358950589CYP4V2,KLKB1c.1342A>C (p.Asn448His)
n.577A>C
n.6040A>C
c.138A>C
n.432A>C
c.1339A>C (p.Asn447His)
c.946A>C (p.Asn316His)
4g.186209209A>GCA358950590CYP4V2,KLKB1c.1342A>G (p.Asn448Asp)
n.577A>G
n.6040A>G
c.138A>G
n.432A>G
c.1339A>G (p.Asn447Asp)
c.946A>G (p.Asn316Asp)
4g.186209209A>TCA358950591CYP4V2,KLKB1c.1342A>T (p.Asn448Tyr)
n.577A>T
n.6040A>T
c.138A>T
n.432A>T
c.1339A>T (p.Asn447Tyr)
c.946A>T (p.Asn316Tyr)
4g.186209210A>CCA358950594CYP4V2,KLKB1c.1343A>C (p.Asn448Thr)
n.578A>C
n.6041A>C
c.139A>C
n.433A>C
c.1340A>C (p.Asn447Thr)
c.947A>C (p.Asn316Thr)
4g.186209210A>GCA358950593CYP4V2,KLKB1c.1343A>G (p.Asn448Ser)
n.578A>G
n.6041A>G
c.139A>G
n.433A>G
c.1340A>G (p.Asn447Ser)
c.947A>G (p.Asn316Ser)
gnomAD v4
4g.186209210A>TCA358950592CYP4V2,KLKB1c.1343A>T (p.Asn448Ile)
n.578A>T
n.6041A>T
c.139A>T
n.433A>T
c.1340A>T (p.Asn447Ile)
c.947A>T (p.Asn316Ile)
4g.186209211T>ACA358950595CYP4V2,KLKB1c.1344T>A (p.Asn448Lys)
n.579T>A
n.6042T>A
c.140T>A
n.434T>A
c.1341T>A (p.Asn447Lys)
c.948T>A (p.Asn316Lys)
4g.186209211T>CCA3162836CYP4V2,KLKB1c.1344T>C (p.Asn448=)
n.579T>C
n.6042T>C
c.140T>C
n.434T>C
c.1341T>C (p.Asn447=)
c.948T>C (p.Asn316=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209211T>GCA358950596CYP4V2,KLKB1c.1344T>G (p.Asn448Lys)
n.579T>G
n.6042T>G
c.140T>G
n.434T>G
c.1341T>G (p.Asn447Lys)
c.948T>G (p.Asn316Lys)
4g.186209211T=CA1519891470CYP4V2,KLKB1c.1344T= (p.Asn448=)
n.579T=
n.6042T=
c.140T=
n.434T=
c.1341T= (p.Asn447=)
c.948T= (p.Asn316=)
4g.186209212G>ACA358950597CYP4V2,KLKB1c.1345G>A (p.Ala449Thr)
n.580G>A
n.6043G>A
c.141G>A
n.435G>A
c.1342G>A (p.Ala448Thr)
c.949G>A (p.Ala317Thr)
ClinVar gnomAD v4
4g.186209212G>CCA358950599CYP4V2,KLKB1c.1345G>C (p.Ala449Pro)
n.580G>C
n.6043G>C
c.141G>C
n.435G>C
c.1342G>C (p.Ala448Pro)
c.949G>C (p.Ala317Pro)
4g.186209212G>TCA358950598CYP4V2,KLKB1c.1345G>T (p.Ala449Ser)
n.580G>T
n.6043G>T
c.141G>T
n.435G>T
c.1342G>T (p.Ala448Ser)
c.949G>T (p.Ala317Ser)
4g.186209213C>ACA358950600CYP4V2,KLKB1c.1346C>A (p.Ala449Glu)
n.581C>A
n.6044C>A
c.142C>A
n.436C>A
c.1343C>A (p.Ala448Glu)
c.950C>A (p.Ala317Glu)
4g.186209213C>GCA358950601CYP4V2,KLKB1c.1346C>G (p.Ala449Gly)
n.581C>G
n.6044C>G
c.142C>G
n.436C>G
c.1343C>G (p.Ala448Gly)
c.950C>G (p.Ala317Gly)
4g.186209213C>TCA358950602CYP4V2,KLKB1c.1346C>T (p.Ala449Val)
n.581C>T
n.6044C>T
c.142C>T
n.436C>T
c.1343C>T (p.Ala448Val)
c.950C>T (p.Ala317Val)
4g.186209214A=CA1519891471CYP4V2,KLKB1c.1347A= (p.Ala449=)
n.582A=
n.6045A=
c.143A=
n.437A=
c.1344A= (p.Ala448=)
c.951A= (p.Ala317=)
4g.186209214A>CCA442882766CYP4V2,KLKB1c.1347A>C (p.Ala449=)
n.582A>C
n.6045A>C
c.143A>C
n.437A>C
c.1344A>C (p.Ala448=)
c.951A>C (p.Ala317=)
dbSNP gnomAD v4
4g.186209214A>GCA442882768CYP4V2,KLKB1c.1347A>G (p.Ala449=)
n.582A>G
n.6045A>G
c.143A>G
n.437A>G
c.1344A>G (p.Ala448=)
c.951A>G (p.Ala317=)
4g.186209214A>TCA442882770CYP4V2,KLKB1c.1347A>T (p.Ala449=)
n.582A>T
n.6045A>T
c.143A>T
n.437A>T
c.1344A>T (p.Ala448=)
c.951A>T (p.Ala317=)
4g.186209215C>ACA358950603CYP4V2,KLKB1c.1348C>A (p.Gln450Lys)
n.583C>A
n.6046C>A
c.144C>A
n.438C>A
c.1345C>A (p.Gln449Lys)
c.952C>A (p.Gln318Lys)
4g.186209215C=CA1519891472CYP4V2,KLKB1c.1348C= (p.Gln450=)
n.583C=
n.6046C=
c.144C=
n.438C=
c.1345C= (p.Gln449=)
c.952C= (p.Gln318=)
4g.186209215C>GCA358950604CYP4V2,KLKB1c.1348C>G (p.Gln450Glu)
n.583C>G
n.6046C>G
c.144C>G
n.438C>G
c.1345C>G (p.Gln449Glu)
c.952C>G (p.Gln318Glu)
gnomAD v4
4g.186209215C>TCA343717CYP4V2,KLKB1c.1348C>T (p.Gln450Ter)
n.583C>T
n.6046C>T
c.144C>T
n.438C>T
c.1345C>T (p.Gln449Ter)
c.952C>T (p.Gln318Ter)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.186209216A=CA1519891473CYP4V2,KLKB1c.1349A= (p.Gln450=)
n.584A=
n.6047A=
c.145A=
n.439A=
c.1346A= (p.Gln449=)
c.953A= (p.Gln318=)
4g.186209216A>CCA358950605CYP4V2,KLKB1c.1349A>C (p.Gln450Pro)
n.584A>C
n.6047A>C
c.145A>C
n.439A>C
c.1346A>C (p.Gln449Pro)
c.953A>C (p.Gln318Pro)
4g.186209216A>GCA358950606CYP4V2,KLKB1c.1349A>G (p.Gln450Arg)
n.584A>G
n.6047A>G
c.145A>G
n.439A>G
c.1346A>G (p.Gln449Arg)
c.953A>G (p.Gln318Arg)
dbSNP gnomAD v4
4g.186209216A>TCA358950607CYP4V2,KLKB1c.1349A>T (p.Gln450Leu)
n.584A>T
n.6047A>T
c.145A>T
n.439A>T
c.1346A>T (p.Gln449Leu)
c.953A>T (p.Gln318Leu)
4g.186209217A=CA1519891474CYP4V2,KLKB1c.1350A= (p.Gln450=)
n.585A=
n.6048A=
c.146A=
n.440A=
c.1347A= (p.Gln449=)
c.954A= (p.Gln318=)
4g.186209217A>CCA358950608CYP4V2,KLKB1c.1350A>C (p.Gln450His)
n.585A>C
n.6048A>C
c.146A>C
n.440A>C
c.1347A>C (p.Gln449His)
c.954A>C (p.Gln318His)
4g.186209217A>GCA442882781CYP4V2,KLKB1c.1350A>G (p.Gln450=)
n.585A>G
n.6048A>G
c.146A>G
n.440A>G
c.1347A>G (p.Gln449=)
c.954A>G (p.Gln318=)
dbSNP gnomAD v2 gnomAD v4
4g.186209217A>TCA358950609CYP4V2,KLKB1c.1350A>T (p.Gln450His)
n.585A>T
n.6048A>T
c.146A>T
n.440A>T
c.1347A>T (p.Gln449His)
c.954A>T (p.Gln318His)
4g.186209218G>ACA358950611CYP4V2,KLKB1c.1351G>A (p.Gly451Arg)
n.586G>A
n.6049G>A
c.147G>A
n.441G>A
c.1348G>A (p.Gly450Arg)
c.955G>A (p.Gly319Arg)
dbSNP gnomAD v3 gnomAD v4
4g.186209218G>CCA3162837CYP4V2,KLKB1c.1351G>C (p.Gly451Arg)
n.586G>C
n.6049G>C
c.147G>C
n.441G>C
c.1348G>C (p.Gly450Arg)
c.955G>C (p.Gly319Arg)
dbSNP ExAC gnomAD v2
4g.186209218G=CA1519891475CYP4V2,KLKB1c.1351G= (p.Gly451=)
n.586G=
n.6049G=
c.147G=
n.441G=
c.1348G= (p.Gly450=)
c.955G= (p.Gly319=)
4g.186209218G>TCA358950610CYP4V2,KLKB1c.1351G>T (p.Gly451Trp)
n.586G>T
n.6049G>T
c.147G>T
n.441G>T
c.1348G>T (p.Gly450Trp)
c.955G>T (p.Gly319Trp)
4g.186209219G>ACA358950612CYP4V2,KLKB1c.1352G>A (p.Gly451Glu)
n.587G>A
n.6050G>A
c.148G>A
n.442G>A
c.1349G>A (p.Gly450Glu)
c.956G>A (p.Gly319Glu)
4g.186209219G>CCA358950613CYP4V2,KLKB1c.1352G>C (p.Gly451Ala)
n.587G>C
n.6050G>C
c.148G>C
n.442G>C
c.1349G>C (p.Gly450Ala)
c.956G>C (p.Gly319Ala)
4g.186209219G>TCA358950614CYP4V2,KLKB1c.1352G>T (p.Gly451Val)
n.587G>T
n.6050G>T
c.148G>T
n.442G>T
c.1349G>T (p.Gly450Val)
c.956G>T (p.Gly319Val)
4g.186209220G>ACA112135201CYP4V2,KLKB1c.1353G>A (p.Gly451=)
n.588G>A
n.6051G>A
c.149G>A
n.443G>A
c.1350G>A (p.Gly450=)
c.957G>A (p.Gly319=)
dbSNP gnomAD v4
4g.186209220G>CCA442882794CYP4V2,KLKB1c.1353G>C (p.Gly451=)
n.588G>C
n.6051G>C
c.149G>C
n.443G>C
c.1350G>C (p.Gly450=)
c.957G>C (p.Gly319=)
4g.186209220G=CA1519891476CYP4V2,KLKB1c.1353G= (p.Gly451=)
n.588G=
n.6051G=
c.149G=
n.443G=
c.1350G= (p.Gly450=)
c.957G= (p.Gly319=)
4g.186209220G>TCA3162838CYP4V2,KLKB1c.1353G>T (p.Gly451=)
n.588G>T
n.6051G>T
c.149G>T
n.443G>T
c.1350G>T (p.Gly450=)
c.957G>T (p.Gly319=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209221C>ACA358950615CYP4V2,KLKB1c.1354C>A (p.Arg452Ser)
n.589C>A
n.6052C>A
c.150C>A
n.444C>A
c.1351C>A (p.Arg451Ser)
c.958C>A (p.Arg320Ser)
4g.186209221C=CA1519891477CYP4V2,KLKB1c.1354C= (p.Arg452=)
n.589C=
n.6052C=
c.150C=
n.444C=
c.1351C= (p.Arg451=)
c.958C= (p.Arg320=)
4g.186209221C>GCA358950616CYP4V2,KLKB1c.1354C>G (p.Arg452Gly)
n.589C>G
n.6052C>G
c.150C>G
n.444C>G
c.1351C>G (p.Arg451Gly)
c.958C>G (p.Arg320Gly)
gnomAD v4
4g.186209221C>TCA3162839CYP4V2,KLKB1c.1354C>T (p.Arg452Cys)
n.589C>T
n.6052C>T
c.150C>T
n.444C>T
c.1351C>T (p.Arg451Cys)
c.958C>T (p.Arg320Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209221_186209222insAAATAAAGGAACAGAAGGAAAAAGGCGAAGCA2764868866CYP4V2,KLKB1c.1354_1355insAAATAAAGGAACAGAAGGAAAAAGGCGAAG (p.Arg452delinsGlnIleLysGluGlnLysGluLysGlyGluGly)
n.589_590insAAATAAAGGAACAGAAGGAAAAAGGCGAAG
n.6052_6053insAAATAAAGGAACAGAAGGAAAAAGGCGAAG
c.150_151insAAATAAAGGAACAGAAGGAAAAAGGCGAAG
n.444_445insAAATAAAGGAACAGAAGGAAAAAGGCGAAG
c.1351_1352insAAATAAAGGAACAGAAGGAAAAAGGCGAAG (p.Arg451delinsGlnIleLysGluGlnLysGluLysGlyGluGly)
c.958_959insAAATAAAGGAACAGAAGGAAAAAGGCGAAG (p.Arg320delinsGlnIleLysGluGlnLysGluLysGlyGluGly)
4g.186209222G>ACA3162840CYP4V2,KLKB1c.1355G>A (p.Arg452His)
n.590G>A
n.6053G>A
c.151G>A
n.445G>A
c.1352G>A (p.Arg451His)
c.959G>A (p.Arg320His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209222G>CCA358950617CYP4V2,KLKB1c.1355G>C (p.Arg452Pro)
n.590G>C
n.6053G>C
c.151G>C
n.445G>C
c.1352G>C (p.Arg451Pro)
c.959G>C (p.Arg320Pro)
4g.186209222G=CA1519891478CYP4V2,KLKB1c.1355G= (p.Arg452=)
n.590G=
n.6053G=
c.151G=
n.445G=
c.1352G= (p.Arg451=)
c.959G= (p.Arg320=)
4g.186209222G>TCA358950618CYP4V2,KLKB1c.1355G>T (p.Arg452Leu)
n.590G>T
n.6053G>T
c.151G>T
n.445G>T
c.1352G>T (p.Arg451Leu)
c.959G>T (p.Arg320Leu)
4g.186209223C>ACA442882807CYP4V2,KLKB1c.1356C>A (p.Arg452=)
n.591C>A
n.6054C>A
c.152C>A
n.446C>A
c.1353C>A (p.Arg451=)
c.960C>A (p.Arg320=)
4g.186209223C>GCA442882811CYP4V2,KLKB1c.1356C>G (p.Arg452=)
n.591C>G
n.6054C>G
c.152C>G
n.446C>G
c.1353C>G (p.Arg451=)
c.960C>G (p.Arg320=)
4g.186209223C>TCA442882809CYP4V2,KLKB1c.1356C>T (p.Arg452=)
n.591C>T
n.6054C>T
c.152C>T
n.446C>T
c.1353C>T (p.Arg451=)
c.960C>T (p.Arg320=)
4g.186209224C>ACA358950619CYP4V2,KLKB1c.1357C>A (p.His453Asn)
n.592C>A
n.6055C>A
c.153C>A
n.447C>A
c.1354C>A (p.His452Asn)
c.961C>A (p.His321Asn)
4g.186209224C=CA1519891479CYP4V2,KLKB1c.1357C= (p.His453=)
n.592C=
n.6055C=
c.153C=
n.447C=
c.1354C= (p.His452=)
c.961C= (p.His321=)
4g.186209224C>GCA358950620CYP4V2,KLKB1c.1357C>G (p.His453Asp)
n.592C>G
n.6055C>G
c.153C>G
n.447C>G
c.1354C>G (p.His452Asp)
c.961C>G (p.His321Asp)
4g.186209224C>TCA3162841CYP4V2,KLKB1c.1357C>T (p.His453Tyr)
n.592C>T
n.6055C>T
c.153C>T
n.447C>T
c.1354C>T (p.His452Tyr)
c.961C>T (p.His321Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209225A>CCA358950621CYP4V2,KLKB1c.1358A>C (p.His453Pro)
n.593A>C
n.6056A>C
c.154A>C
n.448A>C
c.1355A>C (p.His452Pro)
c.962A>C (p.His321Pro)
4g.186209225A>GCA358950622CYP4V2,KLKB1c.1358A>G (p.His453Arg)
n.593A>G
n.6056A>G
c.154A>G
n.448A>G
c.1355A>G (p.His452Arg)
c.962A>G (p.His321Arg)
4g.186209225A>TCA358950623CYP4V2,KLKB1c.1358A>T (p.His453Leu)
n.593A>T
n.6056A>T
c.154A>T
n.448A>T
c.1355A>T (p.His452Leu)
c.962A>T (p.His321Leu)
4g.186209226T>ACA358950624CYP4V2,KLKB1c.1359T>A (p.His453Gln)
n.594T>A
n.6057T>A
c.155T>A
n.449T>A
c.1356T>A (p.His452Gln)
c.963T>A (p.His321Gln)
4g.186209226T>CCA442882823CYP4V2,KLKB1c.1359T>C (p.His453=)
n.594T>C
n.6057T>C
c.155T>C
n.449T>C
c.1356T>C (p.His452=)
c.963T>C (p.His321=)
4g.186209226T>GCA358950625CYP4V2,KLKB1c.1359T>G (p.His453Gln)
n.594T>G
n.6057T>G
c.155T>G
n.449T>G
c.1356T>G (p.His452Gln)
c.963T>G (p.His321Gln)
4g.186209227C>ACA358950628CYP4V2,KLKB1c.1360C>A (p.Pro454Thr)
n.595C>A
n.6058C>A
c.156C>A
n.450C>A
c.1357C>A (p.Pro453Thr)
c.964C>A (p.Pro322Thr)
4g.186209227C>GCA358950627CYP4V2,KLKB1c.1360C>G (p.Pro454Ala)
n.595C>G
n.6058C>G
c.156C>G
n.450C>G
c.1357C>G (p.Pro453Ala)
c.964C>G (p.Pro322Ala)
4g.186209227C>TCA358950626CYP4V2,KLKB1c.1360C>T (p.Pro454Ser)
n.595C>T
n.6058C>T
c.156C>T
n.450C>T
c.1357C>T (p.Pro453Ser)
c.964C>T (p.Pro322Ser)
4g.186209228C>ACA358950629CYP4V2,KLKB1c.1361C>A (p.Pro454Gln)
n.596C>A
n.6059C>A
c.157C>A
n.451C>A
c.1358C>A (p.Pro453Gln)
c.965C>A (p.Pro322Gln)
4g.186209228C=CA1519891480CYP4V2,KLKB1c.1361C= (p.Pro454=)
n.596C=
n.6059C=
c.157C=
n.451C=
c.1358C= (p.Pro453=)
c.965C= (p.Pro322=)
4g.186209228C>GCA358950630CYP4V2,KLKB1c.1361C>G (p.Pro454Arg)
n.596C>G
n.6059C>G
c.157C>G
n.451C>G
c.1358C>G (p.Pro453Arg)
c.965C>G (p.Pro322Arg)
4g.186209228C>TCA358950631CYP4V2,KLKB1c.1361C>T (p.Pro454Leu)
n.596C>T
n.6059C>T
c.157C>T
n.451C>T
c.1358C>T (p.Pro453Leu)
c.965C>T (p.Pro322Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.186209229A=CA1519891481CYP4V2,KLKB1c.1362A= (p.Pro454=)
n.597A=
n.6060A=
c.158A=
n.452A=
c.1359A= (p.Pro453=)
c.966A= (p.Pro322=)
4g.186209229A>CCA442882835CYP4V2,KLKB1c.1362A>C (p.Pro454=)
n.597A>C
n.6060A>C
c.158A>C
n.452A>C
c.1359A>C (p.Pro453=)
c.966A>C (p.Pro322=)
4g.186209229A>GCA112135232CYP4V2,KLKB1c.1362A>G (p.Pro454=)
n.597A>G
n.6060A>G
c.158A>G
n.452A>G
c.1359A>G (p.Pro453=)
c.966A>G (p.Pro322=)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.186209229A>TCA442882838CYP4V2,KLKB1c.1362A>T (p.Pro454=)
n.597A>T
n.6060A>T
c.158A>T
n.452A>T
c.1359A>T (p.Pro453=)
c.966A>T (p.Pro322=)
4g.186209230T>ACA358950632CYP4V2,KLKB1c.1363T>A (p.Tyr455Asn)
n.598T>A
n.6061T>A
c.159T>A
n.453T>A
c.1360T>A (p.Tyr454Asn)
c.967T>A (p.Tyr323Asn)
4g.186209230T>CCA358950633CYP4V2,KLKB1c.1363T>C (p.Tyr455His)
n.598T>C
n.6061T>C
c.159T>C
n.453T>C
c.1360T>C (p.Tyr454His)
c.967T>C (p.Tyr323His)
4g.186209230T>GCA358950634CYP4V2,KLKB1c.1363T>G (p.Tyr455Asp)
n.598T>G
n.6061T>G
c.159T>G
n.453T>G
c.1360T>G (p.Tyr454Asp)
c.967T>G (p.Tyr323Asp)
4g.186209231A>CCA358950635CYP4V2,KLKB1c.1364A>C (p.Tyr455Ser)
n.599A>C
n.6062A>C
c.160A>C
n.454A>C
c.1361A>C (p.Tyr454Ser)
c.968A>C (p.Tyr323Ser)
4g.186209231A>GCA358950637CYP4V2,KLKB1c.1364A>G (p.Tyr455Cys)
n.599A>G
n.6062A>G
c.160A>G
n.454A>G
c.1361A>G (p.Tyr454Cys)
c.968A>G (p.Tyr323Cys)
4g.186209231A>TCA358950636CYP4V2,KLKB1c.1364A>T (p.Tyr455Phe)
n.599A>T
n.6062A>T
c.160A>T
n.454A>T
c.1361A>T (p.Tyr454Phe)
c.968A>T (p.Tyr323Phe)
gnomAD v4
4g.186209232T>ACA358950638CYP4V2,KLKB1c.1365T>A (p.Tyr455Ter)
n.600T>A
n.6063T>A
c.161T>A
n.455T>A
c.1362T>A (p.Tyr454Ter)
c.969T>A (p.Tyr323Ter)
4g.186209232T>CCA442882849CYP4V2,KLKB1c.1365T>C (p.Tyr455=)
n.600T>C
n.6063T>C
c.161T>C
n.455T>C
c.1362T>C (p.Tyr454=)
c.969T>C (p.Tyr323=)
dbSNP
4g.186209232T>GCA358950639CYP4V2,KLKB1c.1365T>G (p.Tyr455Ter)
n.600T>G
n.6063T>G
c.161T>G
n.455T>G
c.1362T>G (p.Tyr454Ter)
c.969T>G (p.Tyr323Ter)
4g.186209232T=CA1519891482CYP4V2,KLKB1c.1365T= (p.Tyr455=)
n.600T=
n.6063T=
c.161T=
n.455T=
c.1362T= (p.Tyr454=)
c.969T= (p.Tyr323=)
4g.186209233G>ACA358950640CYP4V2,KLKB1c.1366G>A (p.Ala456Thr)
n.601G>A
n.6064G>A
c.162G>A
n.456G>A
c.1363G>A (p.Ala455Thr)
c.970G>A (p.Ala324Thr)
4g.186209233G>CCA358950641CYP4V2,KLKB1c.1366G>C (p.Ala456Pro)
n.601G>C
n.6064G>C
c.162G>C
n.456G>C
c.1363G>C (p.Ala455Pro)
c.970G>C (p.Ala324Pro)
4g.186209233G>TCA358950642CYP4V2,KLKB1c.1366G>T (p.Ala456Ser)
n.601G>T
n.6064G>T
c.162G>T
n.456G>T
c.1363G>T (p.Ala455Ser)
c.970G>T (p.Ala324Ser)
4g.186209234C>ACA358950643CYP4V2,KLKB1c.1367C>A (p.Ala456Asp)
n.602C>A
n.6065C>A
c.163C>A
n.457C>A
c.1364C>A (p.Ala455Asp)
c.971C>A (p.Ala324Asp)
4g.186209234C=CA1519891483CYP4V2,KLKB1c.1367C= (p.Ala456=)
n.602C=
n.6065C=
c.163C=
n.457C=
c.1364C= (p.Ala455=)
c.971C= (p.Ala324=)
4g.186209234C>GCA3162842CYP4V2,KLKB1c.1367C>G (p.Ala456Gly)
n.602C>G
n.6065C>G
c.163C>G
n.457C>G
c.1364C>G (p.Ala455Gly)
c.971C>G (p.Ala324Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209234C>TCA358950644CYP4V2,KLKB1c.1367C>T (p.Ala456Val)
n.602C>T
n.6065C>T
c.163C>T
n.457C>T
c.1364C>T (p.Ala455Val)
c.971C>T (p.Ala324Val)
4g.186209235C>ACA442882862CYP4V2,KLKB1c.1368C>A (p.Ala456=)
n.603C>A
n.6066C>A
c.164C>A
n.458C>A
c.1365C>A (p.Ala455=)
c.972C>A (p.Ala324=)
4g.186209235C>GCA442882864CYP4V2,KLKB1c.1368C>G (p.Ala456=)
n.603C>G
n.6066C>G
c.164C>G
n.458C>G
c.1365C>G (p.Ala455=)
c.972C>G (p.Ala324=)
4g.186209235C>TCA442882866CYP4V2,KLKB1c.1368C>T (p.Ala456=)
n.603C>T
n.6066C>T
c.164C>T
n.458C>T
c.1365C>T (p.Ala455=)
c.972C>T (p.Ala324=)
ClinVar dbSNP
4g.186209236T>ACA358950645CYP4V2,KLKB1c.1369T>A (p.Tyr457Asn)
n.604T>A
n.6067T>A
c.165T>A
n.459T>A
c.1366T>A (p.Tyr456Asn)
c.973T>A (p.Tyr325Asn)
4g.186209236T>CCA358950646CYP4V2,KLKB1c.1369T>C (p.Tyr457His)
n.604T>C
n.6067T>C
c.165T>C
n.459T>C
c.1366T>C (p.Tyr456His)
c.973T>C (p.Tyr325His)
dbSNP gnomAD v3 gnomAD v4
4g.186209236T>GCA358950647CYP4V2,KLKB1c.1369T>G (p.Tyr457Asp)
n.604T>G
n.6067T>G
c.165T>G
n.459T>G
c.1366T>G (p.Tyr456Asp)
c.973T>G (p.Tyr325Asp)
4g.186209236T=CA1519891484CYP4V2,KLKB1c.1369T= (p.Tyr457=)
n.604T=
n.6067T=
c.165T=
n.459T=
c.1366T= (p.Tyr456=)
c.973T= (p.Tyr325=)
4g.186209237A=CA1519891485CYP4V2,KLKB1c.1370A= (p.Tyr457=)
n.605A=
n.6068A=
c.166A=
n.460A=
c.1367A= (p.Tyr456=)
c.974A= (p.Tyr325=)
4g.186209237A>CCA358950649CYP4V2,KLKB1c.1370A>C (p.Tyr457Ser)
n.605A>C
n.6068A>C
c.166A>C
n.460A>C
c.1367A>C (p.Tyr456Ser)
c.974A>C (p.Tyr325Ser)
4g.186209237A>GCA3162843CYP4V2,KLKB1c.1370A>G (p.Tyr457Cys)
n.605A>G
n.6068A>G
c.166A>G
n.460A>G
c.1367A>G (p.Tyr456Cys)
c.974A>G (p.Tyr325Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.186209237A>TCA358950648CYP4V2,KLKB1c.1370A>T (p.Tyr457Phe)
n.605A>T
n.6068A>T
c.166A>T
n.460A>T
c.1367A>T (p.Tyr456Phe)
c.974A>T (p.Tyr325Phe)
gnomAD v4
4g.186209237dupCA2672897762CYP4V2,KLKB1c.1370dup (p.Tyr457Ter)
n.605dup
n.6068dup
c.166dup
n.460dup
c.1367dup (p.Tyr456Ter)
c.974dup (p.Tyr325Ter)
gnomAD v4
4g.186209238C>ACA358950650CYP4V2,KLKB1c.1371C>A (p.Tyr457Ter)
n.606C>A
n.6069C>A
c.167C>A
n.461C>A
c.1368C>A (p.Tyr456Ter)
c.975C>A (p.Tyr325Ter)
4g.186209238C=CA1519891486CYP4V2,KLKB1c.1371C= (p.Tyr457=)
n.606C=
n.6069C=
c.167C=
n.461C=
c.1368C= (p.Tyr456=)
c.975C= (p.Tyr325=)
4g.186209238C>GCA358950651CYP4V2,KLKB1c.1371C>G (p.Tyr457Ter)
n.606C>G
n.6069C>G
c.167C>G
n.461C>G
c.1368C>G (p.Tyr456Ter)
c.975C>G (p.Tyr325Ter)
4g.186209238C>TCA3162844CYP4V2,KLKB1c.1371C>T (p.Tyr457=)
n.606C>T
n.6069C>T
c.167C>T
n.461C>T
c.1368C>T (p.Tyr456=)
c.975C>T (p.Tyr325=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209239G>ACA3162845CYP4V2,KLKB1c.1372G>A (p.Val458Met)
n.607G>A
n.6070G>A
c.168G>A
n.462G>A
c.1369G>A (p.Val457Met)
c.976G>A (p.Val326Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209239G>CCA358950652CYP4V2,KLKB1c.1372G>C (p.Val458Leu)
n.607G>C
n.6070G>C
c.168G>C
n.462G>C
c.1369G>C (p.Val457Leu)
c.976G>C (p.Val326Leu)
4g.186209239G=CA1519891487CYP4V2,KLKB1c.1372G= (p.Val458=)
n.607G=
n.6070G=
c.168G=
n.462G=
c.1369G= (p.Val457=)
c.976G= (p.Val326=)
4g.186209239G>TCA358950653CYP4V2,KLKB1c.1372G>T (p.Val458Leu)
n.607G>T
n.6070G>T
c.168G>T
n.462G>T
c.1369G>T (p.Val457Leu)
c.976G>T (p.Val326Leu)
4g.186209240T>ACA358950654CYP4V2,KLKB1c.1373T>A (p.Val458Glu)
n.608T>A
n.6071T>A
c.169T>A
n.463T>A
c.1370T>A (p.Val457Glu)
c.977T>A (p.Val326Glu)
4g.186209240T>CCA358950655CYP4V2,KLKB1c.1373T>C (p.Val458Ala)
n.608T>C
n.6071T>C
c.169T>C
n.463T>C
c.1370T>C (p.Val457Ala)
c.977T>C (p.Val326Ala)
4g.186209240T>GCA358950656CYP4V2,KLKB1c.1373T>G (p.Val458Gly)
n.608T>G
n.6071T>G
c.169T>G
n.463T>G
c.1370T>G (p.Val457Gly)
c.977T>G (p.Val326Gly)
4g.186209241G>ACA442882889CYP4V2,KLKB1c.1374G>A (p.Val458=)
n.609G>A
n.6072G>A
c.170G>A
n.464G>A
c.1371G>A (p.Val457=)
c.978G>A (p.Val326=)
gnomAD v4
4g.186209241G>CCA442882890CYP4V2,KLKB1c.1374G>C (p.Val458=)
n.609G>C
n.6072G>C
c.170G>C
n.464G>C
c.1371G>C (p.Val457=)
c.978G>C (p.Val326=)
4g.186209241G>TCA442882892CYP4V2,KLKB1c.1374G>T (p.Val458=)
n.609G>T
n.6072G>T
c.170G>T
n.464G>T
c.1371G>T (p.Val457=)
c.978G>T (p.Val326=)
gnomAD v4
4g.186209242C>ACA358950657CYP4V2,KLKB1c.1375C>A (p.Pro459Thr)
n.610C>A
n.6073C>A
c.171C>A
n.465C>A
c.1372C>A (p.Pro458Thr)
c.979C>A (p.Pro327Thr)
gnomAD v4
4g.186209242C=CA1519891488CYP4V2,KLKB1c.1375C= (p.Pro459=)
n.610C=
n.6073C=
c.171C=
n.465C=
c.1372C= (p.Pro458=)
c.979C= (p.Pro327=)
4g.186209242C>GCA358950658CYP4V2,KLKB1c.1375C>G (p.Pro459Ala)
n.610C>G
n.6073C>G
c.171C>G
n.465C>G
c.1372C>G (p.Pro458Ala)
c.979C>G (p.Pro327Ala)
4g.186209242C>TCA358950659CYP4V2,KLKB1c.1375C>T (p.Pro459Ser)
n.610C>T
n.6073C>T
c.171C>T
n.465C>T
c.1372C>T (p.Pro458Ser)
c.979C>T (p.Pro327Ser)
ClinVar dbSNP gnomAD v4 COSMIC
4g.186209243C>ACA358950660CYP4V2,KLKB1c.1376C>A (p.Pro459His)
n.611C>A
n.6074C>A
c.172C>A
n.466C>A
c.1373C>A (p.Pro458His)
c.980C>A (p.Pro327His)
ClinVar dbSNP
4g.186209243C=CA1519891489CYP4V2,KLKB1c.1376C= (p.Pro459=)
n.611C=
n.6074C=
c.172C=
n.466C=
c.1373C= (p.Pro458=)
c.980C= (p.Pro327=)
4g.186209243C>GCA358950661CYP4V2,KLKB1c.1376C>G (p.Pro459Arg)
n.611C>G
n.6074C>G
c.172C>G
n.466C>G
c.1373C>G (p.Pro458Arg)
c.980C>G (p.Pro327Arg)
4g.186209243C>TCA358950662CYP4V2,KLKB1c.1376C>T (p.Pro459Leu)
n.611C>T
n.6074C>T
c.172C>T
n.466C>T
c.1373C>T (p.Pro458Leu)
c.980C>T (p.Pro327Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.186209243_186209246delinsCCTTCA1519891490CYP4V2,KLKB1c.1376_1379delinsCCTT (p.Pro459=)
n.611_614delinsCCTT
n.6074_6077delinsCCTT
c.172_175delinsCCTT
n.466_469delinsCCTT
c.1373_1376delinsCCTT (p.Pro458=)
c.980_983delinsCCTT (p.Pro327=)
4g.186209244C>ACA442882902CYP4V2,KLKB1c.1377C>A (p.Pro459=)
n.612C>A
n.6075C>A
c.173C>A
n.467C>A
c.1374C>A (p.Pro458=)
c.981C>A (p.Pro327=)
4g.186209244C>GCA442882906CYP4V2,KLKB1c.1377C>G (p.Pro459=)
n.612C>G
n.6075C>G
c.173C>G
n.467C>G
c.1374C>G (p.Pro458=)
c.981C>G (p.Pro327=)
4g.186209244C>TCA442882904CYP4V2,KLKB1c.1377C>T (p.Pro459=)
n.612C>T
n.6075C>T
c.173C>T
n.467C>T
c.1374C>T (p.Pro458=)
c.981C>T (p.Pro327=)
ClinVar
4g.186209246_186209248delCA792328541CYP4V2,KLKB1c.1379_1381del (p.Phe460del)
n.614_616del
n.6077_6079del
c.175_177del
n.469_471del
c.1376_1378del (p.Phe459del)
c.983_985del (p.Phe328del)
dbSNP gnomAD v3 gnomAD v4
4g.186209245T>ACA358950665CYP4V2,KLKB1c.1378T>A (p.Phe460Ile)
n.613T>A
n.6076T>A
c.174T>A
n.468T>A
c.1375T>A (p.Phe459Ile)
c.982T>A (p.Phe328Ile)
4g.186209245T>CCA358950663CYP4V2,KLKB1c.1378T>C (p.Phe460Leu)
n.613T>C
n.6076T>C
c.174T>C
n.468T>C
c.1375T>C (p.Phe459Leu)
c.982T>C (p.Phe328Leu)
ClinVar dbSNP gnomAD v4
4g.186209245T>GCA358950664CYP4V2,KLKB1c.1378T>G (p.Phe460Val)
n.613T>G
n.6076T>G
c.174T>G
n.468T>G
c.1375T>G (p.Phe459Val)
c.982T>G (p.Phe328Val)
4g.186209245T=CA1519891491CYP4V2,KLKB1c.1378T= (p.Phe460=)
n.613T=
n.6076T=
c.174T=
n.468T=
c.1375T= (p.Phe459=)
c.982T= (p.Phe328=)
4g.186209246T>ACA358950666CYP4V2,KLKB1c.1379T>A (p.Phe460Tyr)
n.614T>A
n.6077T>A
c.175T>A
n.469T>A
c.1376T>A (p.Phe459Tyr)
c.983T>A (p.Phe328Tyr)
4g.186209246T>CCA3162846CYP4V2,KLKB1c.1379T>C (p.Phe460Ser)
n.614T>C
n.6077T>C
c.175T>C
n.469T>C
c.1376T>C (p.Phe459Ser)
c.983T>C (p.Phe328Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.186209246T>GCA358950667CYP4V2,KLKB1c.1379T>G (p.Phe460Cys)
n.614T>G
n.6077T>G
c.175T>G
n.469T>G
c.1376T>G (p.Phe459Cys)
c.983T>G (p.Phe328Cys)
4g.186209246T=CA1519891492CYP4V2,KLKB1c.1379T= (p.Phe460=)
n.614T=
n.6077T=
c.175T=
n.469T=
c.1376T= (p.Phe459=)
c.983T= (p.Phe328=)
4g.186209247C>ACA358950668CYP4V2,KLKB1c.1380C>A (p.Phe460Leu)
n.615C>A
n.6078C>A
c.176C>A
n.470C>A
c.1377C>A (p.Phe459Leu)
c.984C>A (p.Phe328Leu)
4g.186209247C=CA1519891493CYP4V2,KLKB1c.1380C= (p.Phe460=)
n.615C=
n.6078C=
c.176C=
n.470C=
c.1377C= (p.Phe459=)
c.984C= (p.Phe328=)
4g.186209247C>GCA358950669CYP4V2,KLKB1c.1380C>G (p.Phe460Leu)
n.615C>G
n.6078C>G
c.176C>G
n.470C>G
c.1377C>G (p.Phe459Leu)
c.984C>G (p.Phe328Leu)
dbSNP gnomAD v2 gnomAD v4
4g.186209247C>TCA442882920CYP4V2,KLKB1c.1380C>T (p.Phe460=)
n.615C>T
n.6078C>T
c.176C>T
n.470C>T
c.1377C>T (p.Phe459=)
c.984C>T (p.Phe328=)
4g.186209248T>ACA358950670CYP4V2,KLKB1c.1381T>A (p.Ser461Thr)
n.616T>A
n.6079T>A
c.177T>A
n.471T>A
c.1378T>A (p.Ser460Thr)
c.985T>A (p.Ser329Thr)
4g.186209248T>CCA358950671CYP4V2,KLKB1c.1381T>C (p.Ser461Pro)
n.616T>C
n.6079T>C
c.177T>C
n.471T>C
c.1378T>C (p.Ser460Pro)
c.985T>C (p.Ser329Pro)
4g.186209248T>GCA358950672CYP4V2,KLKB1c.1381T>G (p.Ser461Ala)
n.616T>G
n.6079T>G
c.177T>G
n.471T>G
c.1378T>G (p.Ser460Ala)
c.985T>G (p.Ser329Ala)
4g.186209249C>ACA358950673CYP4V2,KLKB1c.1382C>A (p.Ser461Tyr)
n.617C>A
n.6080C>A
c.178C>A
n.472C>A
c.1379C>A (p.Ser460Tyr)
c.986C>A (p.Ser329Tyr)
4g.186209249C=CA1519891494CYP4V2,KLKB1c.1382C= (p.Ser461=)
n.617C=
n.6080C=
c.178C=
n.472C=
c.1379C= (p.Ser460=)
c.986C= (p.Ser329=)
4g.186209249C>GCA358950674CYP4V2,KLKB1c.1382C>G (p.Ser461Cys)
n.617C>G
n.6080C>G
c.178C>G
n.472C>G
c.1379C>G (p.Ser460Cys)
c.986C>G (p.Ser329Cys)
4g.186209249C>TCA112135290CYP4V2,KLKB1c.1382C>T (p.Ser461Phe)
n.617C>T
n.6080C>T
c.178C>T
n.472C>T
c.1379C>T (p.Ser460Phe)
c.986C>T (p.Ser329Phe)
dbSNP gnomAD v3 gnomAD v4
4g.186209250T>ACA442882931CYP4V2,KLKB1c.1383T>A (p.Ser461=)
n.618T>A
n.6081T>A
c.179T>A
n.473T>A
c.1380T>A (p.Ser460=)
c.987T>A (p.Ser329=)
4g.186209250T>CCA442882933CYP4V2,KLKB1c.1383T>C (p.Ser461=)
n.618T>C
n.6081T>C
c.179T>C
n.473T>C
c.1380T>C (p.Ser460=)
c.987T>C (p.Ser329=)
4g.186209250T>GCA442882934CYP4V2,KLKB1c.1383T>G (p.Ser461=)
n.618T>G
n.6081T>G
c.179T>G
n.473T>G
c.1380T>G (p.Ser460=)
c.987T>G (p.Ser329=)
4g.186209251G>ACA358950677CYP4V2,KLKB1c.1384G>A (p.Ala462Thr)
n.619G>A
n.6082G>A
c.180G>A
n.474G>A
c.1381G>A (p.Ala461Thr)
c.988G>A (p.Ala330Thr)
gnomAD v4
4g.186209251G>CCA358950676CYP4V2,KLKB1c.1384G>C (p.Ala462Pro)
n.619G>C
n.6082G>C
c.180G>C
n.474G>C
c.1381G>C (p.Ala461Pro)
c.988G>C (p.Ala330Pro)
4g.186209251G>TCA358950675CYP4V2,KLKB1c.1384G>T (p.Ala462Ser)
n.619G>T
n.6082G>T
c.180G>T
n.474G>T
c.1381G>T (p.Ala461Ser)
c.988G>T (p.Ala330Ser)
4g.186209252C>ACA358950678CYP4V2,KLKB1c.1385C>A (p.Ala462Asp)
n.620C>A
n.6083C>A
c.181C>A
n.475C>A
c.1382C>A (p.Ala461Asp)
c.989C>A (p.Ala330Asp)
4g.186209252C=CA1519891495CYP4V2,KLKB1c.1385C= (p.Ala462=)
n.620C=
n.6083C=
c.181C=
n.475C=
c.1382C= (p.Ala461=)
c.989C= (p.Ala330=)
4g.186209252C>GCA358950679CYP4V2,KLKB1c.1385C>G (p.Ala462Gly)
n.620C>G
n.6083C>G
c.181C>G
n.475C>G
c.1382C>G (p.Ala461Gly)
c.989C>G (p.Ala330Gly)
4g.186209252C>TCA3162847CYP4V2,KLKB1c.1385C>T (p.Ala462Val)
n.620C>T
n.6083C>T
c.181C>T
n.475C>T
c.1382C>T (p.Ala461Val)
c.989C>T (p.Ala330Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209253T>ACA442882945CYP4V2,KLKB1c.1386T>A (p.Ala462=)
n.621T>A
n.6084T>A
c.182T>A
n.476T>A
c.1383T>A (p.Ala461=)
c.990T>A (p.Ala330=)
4g.186209253T>CCA442882947CYP4V2,KLKB1c.1386T>C (p.Ala462=)
n.621T>C
n.6084T>C
c.182T>C
n.476T>C
c.1383T>C (p.Ala461=)
c.990T>C (p.Ala330=)
4g.186209253T>GCA442882949CYP4V2,KLKB1c.1386T>G (p.Ala462=)
n.621T>G
n.6084T>G
c.182T>G
n.476T>G
c.1383T>G (p.Ala461=)
c.990T>G (p.Ala330=)
4g.186209254G>ACA358950680CYP4V2,KLKB1c.1387G>A (p.Gly463Ser)
n.622G>A
n.6085G>A
c.183G>A
n.477G>A
c.1384G>A (p.Gly462Ser)
c.991G>A (p.Gly331Ser)
4g.186209254G>CCA358950681CYP4V2,KLKB1c.1387G>C (p.Gly463Arg)
n.622G>C
n.6085G>C
c.183G>C
n.477G>C
c.1384G>C (p.Gly462Arg)
c.991G>C (p.Gly331Arg)
4g.186209254G=CA1519891496CYP4V2,KLKB1c.1387G= (p.Gly463=)
n.622G=
n.6085G=
c.183G=
n.477G=
c.1384G= (p.Gly462=)
c.991G= (p.Gly331=)
4g.186209254G>TCA358950682CYP4V2,KLKB1c.1387G>T (p.Gly463Cys)
n.622G>T
n.6085G>T
c.183G>T
n.477G>T
c.1384G>T (p.Gly462Cys)
c.991G>T (p.Gly331Cys)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.186209255G>ACA358950683CYP4V2,KLKB1c.1388G>A (p.Gly463Asp)
n.623G>A
n.6086G>A
c.184G>A
n.478G>A
c.1385G>A (p.Gly462Asp)
c.992G>A (p.Gly331Asp)
dbSNP gnomAD v2 gnomAD v4
4g.186209255G>CCA358950684CYP4V2,KLKB1c.1388G>C (p.Gly463Ala)
n.623G>C
n.6086G>C
c.184G>C
n.478G>C
c.1385G>C (p.Gly462Ala)
c.992G>C (p.Gly331Ala)
4g.186209255G=CA1519891497CYP4V2,KLKB1c.1388G= (p.Gly463=)
n.623G=
n.6086G=
c.184G=
n.478G=
c.1385G= (p.Gly462=)
c.992G= (p.Gly331=)
4g.186209255G>TCA3162848CYP4V2,KLKB1c.1388G>T (p.Gly463Val)
n.623G>T
n.6086G>T
c.184G>T
n.478G>T
c.1385G>T (p.Gly462Val)
c.992G>T (p.Gly331Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209256C>ACA442882959CYP4V2,KLKB1c.1389C>A (p.Gly463=)
n.624C>A
n.6087C>A
c.185C>A
n.479C>A
c.1386C>A (p.Gly462=)
c.993C>A (p.Gly331=)
dbSNP gnomAD v2 gnomAD v4
4g.186209256C=CA1519891498CYP4V2,KLKB1c.1389C= (p.Gly463=)
n.624C=
n.6087C=
c.185C=
n.479C=
c.1386C= (p.Gly462=)
c.993C= (p.Gly331=)
4g.186209256C>GCA442882961CYP4V2,KLKB1c.1389C>G (p.Gly463=)
n.624C>G
n.6087C>G
c.185C>G
n.479C>G
c.1386C>G (p.Gly462=)
c.993C>G (p.Gly331=)
4g.186209256C>TCA442882963CYP4V2,KLKB1c.1389C>T (p.Gly463=)
n.624C>T
n.6087C>T
c.185C>T
n.479C>T
c.1386C>T (p.Gly462=)
c.993C>T (p.Gly331=)
gnomAD v4
4g.186209257C>ACA358950685CYP4V2,KLKB1c.1390C>A (p.Pro464Thr)
n.625C>A
n.6088C>A
c.186C>A
n.480C>A
c.1387C>A (p.Pro463Thr)
c.994C>A (p.Pro332Thr)
4g.186209257C>GCA358950686CYP4V2,KLKB1c.1390C>G (p.Pro464Ala)
n.625C>G
n.6088C>G
c.186C>G
n.480C>G
c.1387C>G (p.Pro463Ala)
c.994C>G (p.Pro332Ala)
4g.186209257C>TCA358950687CYP4V2,KLKB1c.1390C>T (p.Pro464Ser)
n.625C>T
n.6088C>T
c.186C>T
n.480C>T
c.1387C>T (p.Pro463Ser)
c.994C>T (p.Pro332Ser)
4g.186209258C>ACA358950690CYP4V2,KLKB1c.1391C>A (p.Pro464His)
n.626C>A
n.6089C>A
c.187C>A
n.481C>A
c.1388C>A (p.Pro463His)
c.995C>A (p.Pro332His)
4g.186209258C>GCA358950689CYP4V2,KLKB1c.1391C>G (p.Pro464Arg)
n.626C>G
n.6089C>G
c.187C>G
n.481C>G
c.1388C>G (p.Pro463Arg)
c.995C>G (p.Pro332Arg)
4g.186209258C>TCA358950688CYP4V2,KLKB1c.1391C>T (p.Pro464Leu)
n.626C>T
n.6089C>T
c.187C>T
n.481C>T
c.1388C>T (p.Pro463Leu)
c.995C>T (p.Pro332Leu)
gnomAD v4
4g.186209259C>ACA442882974CYP4V2,KLKB1c.1392C>A (p.Pro464=)
n.627C>A
n.6090C>A
c.188C>A
n.482C>A
c.1389C>A (p.Pro463=)
c.996C>A (p.Pro332=)
4g.186209259C>GCA442882976CYP4V2,KLKB1c.1392C>G (p.Pro464=)
n.627C>G
n.6090C>G
c.188C>G
n.482C>G
c.1389C>G (p.Pro463=)
c.996C>G (p.Pro332=)
4g.186209259C>TCA442882978CYP4V2,KLKB1c.1392C>T (p.Pro464=)
n.627C>T
n.6090C>T
c.188C>T
n.482C>T
c.1389C>T (p.Pro463=)
c.996C>T (p.Pro332=)
COSMIC
4g.186209260A=CA1519891499CYP4V2,KLKB1c.1393A= (p.Arg465=)
n.628A=
n.6091A=
c.189A=
n.483A=
c.1390A= (p.Arg464=)
c.997A= (p.Arg333=)
4g.186209260A>CCA442882981CYP4V2,KLKB1c.1393A>C (p.Arg465=)
n.628A>C
n.6091A>C
c.189A>C
n.483A>C
c.1390A>C (p.Arg464=)
c.997A>C (p.Arg333=)
4g.186209260A>GCA273326CYP4V2,KLKB1c.1393A>G (p.Arg465Gly)
n.628A>G
n.6091A>G
c.189A>G
n.483A>G
c.1390A>G (p.Arg464Gly)
c.997A>G (p.Arg333Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209260A>TCA358950691CYP4V2,KLKB1c.1393A>T (p.Arg465Trp)
n.628A>T
n.6091A>T
c.189A>T
n.483A>T
c.1390A>T (p.Arg464Trp)
c.997A>T (p.Arg333Trp)
4g.186209261G>ACA358950692CYP4V2,KLKB1c.1394G>A (p.Arg465Lys)
n.629G>A
n.6092G>A
c.190G>A
n.484G>A
c.1391G>A (p.Arg464Lys)
c.998G>A (p.Arg333Lys)
4g.186209261G>CCA358950693CYP4V2,KLKB1c.1394G>C (p.Arg465Thr)
n.629G>C
n.6092G>C
c.190G>C
n.484G>C
c.1391G>C (p.Arg464Thr)
c.998G>C (p.Arg333Thr)
4g.186209261G>TCA358950694CYP4V2,KLKB1c.1394G>T (p.Arg465Met)
n.629G>T
n.6092G>T
c.190G>T
n.484G>T
c.1391G>T (p.Arg464Met)
c.998G>T (p.Arg333Met)
4g.186209262G>ACA442882990CYP4V2,KLKB1c.1395G>A (p.Arg465=)
n.630G>A
n.6093G>A
c.191G>A
n.485G>A
c.1392G>A (p.Arg464=)
c.999G>A (p.Arg333=)
4g.186209262G>CCA358950695CYP4V2,KLKB1c.1395G>C (p.Arg465Ser)
n.630G>C
n.6093G>C
c.191G>C
n.485G>C
c.1392G>C (p.Arg464Ser)
c.999G>C (p.Arg333Ser)
4g.186209262G>TCA358950696CYP4V2,KLKB1c.1395G>T (p.Arg465Ser)
n.630G>T
n.6093G>T
c.191G>T
n.485G>T
c.1392G>T (p.Arg464Ser)
c.999G>T (p.Arg333Ser)
4g.186209263A=CA1519891500CYP4V2,KLKB1c.1396A= (p.Asn466=)
n.631A=
n.6094A=
c.192A=
n.486A=
c.1393A= (p.Asn465=)
c.1000A= (p.Asn334=)
4g.186209263A>CCA358950697CYP4V2,KLKB1c.1396A>C (p.Asn466His)
n.631A>C
n.6094A>C
c.192A>C
n.486A>C
c.1393A>C (p.Asn465His)
c.1000A>C (p.Asn334His)
4g.186209263A>GCA276932CYP4V2,KLKB1c.1396A>G (p.Asn466Asp)
n.631A>G
n.6094A>G
c.192A>G
n.486A>G
c.1393A>G (p.Asn465Asp)
c.1000A>G (p.Asn334Asp)
ClinVar dbSNP
4g.186209263A>TCA358950698CYP4V2,KLKB1c.1396A>T (p.Asn466Tyr)
n.631A>T
n.6094A>T
c.192A>T
n.486A>T
c.1393A>T (p.Asn465Tyr)
c.1000A>T (p.Asn334Tyr)
4g.186209264A>CCA358950699CYP4V2,KLKB1c.1397A>C (p.Asn466Thr)
n.632A>C
n.6095A>C
c.193A>C
n.487A>C
c.1394A>C (p.Asn465Thr)
c.1001A>C (p.Asn334Thr)
4g.186209264A>GCA358950700CYP4V2,KLKB1c.1397A>G (p.Asn466Ser)
n.632A>G
n.6095A>G
c.193A>G
n.487A>G
c.1394A>G (p.Asn465Ser)
c.1001A>G (p.Asn334Ser)
gnomAD v4
4g.186209264A>TCA358950701CYP4V2,KLKB1c.1397A>T (p.Asn466Ile)
n.632A>T
n.6095A>T
c.193A>T
n.487A>T
c.1394A>T (p.Asn465Ile)
c.1001A>T (p.Asn334Ile)
4g.186209265C>ACA358950702CYP4V2,KLKB1c.1398C>A (p.Asn466Lys)
n.633C>A
n.6096C>A
c.194C>A
n.488C>A
c.1395C>A (p.Asn465Lys)
c.1002C>A (p.Asn334Lys)
dbSNP
4g.186209265C=CA1519891501CYP4V2,KLKB1c.1398C= (p.Asn466=)
n.633C=
n.6096C=
c.194C=
n.488C=
c.1395C= (p.Asn465=)
c.1002C= (p.Asn334=)
4g.186209265C>GCA358950703CYP4V2,KLKB1c.1398C>G (p.Asn466Lys)
n.633C>G
n.6096C>G
c.194C>G
n.488C>G
c.1395C>G (p.Asn465Lys)
c.1002C>G (p.Asn334Lys)
4g.186209265C>TCA442883006CYP4V2,KLKB1c.1398C>T (p.Asn466=)
n.633C>T
n.6096C>T
c.194C>T
n.488C>T
c.1395C>T (p.Asn465=)
c.1002C>T (p.Asn334=)
4g.186209266T>ACA358950704CYP4V2,KLKB1c.1399T>A (p.Cys467Ser)
n.634T>A
n.6097T>A
c.195T>A
n.489T>A
c.1396T>A (p.Cys466Ser)
c.1003T>A (p.Cys335Ser)
4g.186209266T>CCA358950706CYP4V2,KLKB1c.1399T>C (p.Cys467Arg)
n.634T>C
n.6097T>C
c.195T>C
n.489T>C
c.1396T>C (p.Cys466Arg)
c.1003T>C (p.Cys335Arg)
gnomAD v4
4g.186209266T>GCA358950705CYP4V2,KLKB1c.1399T>G (p.Cys467Gly)
n.634T>G
n.6097T>G
c.195T>G
n.489T>G
c.1396T>G (p.Cys466Gly)
c.1003T>G (p.Cys335Gly)
4g.186209267G>ACA358950707CYP4V2,KLKB1c.1400G>A (p.Cys467Tyr)
n.635G>A
n.6098G>A
c.196G>A
n.490G>A
c.1397G>A (p.Cys466Tyr)
c.1004G>A (p.Cys335Tyr)
dbSNP gnomAD v3 gnomAD v4
4g.186209267G>CCA358950709CYP4V2,KLKB1c.1400G>C (p.Cys467Ser)
n.635G>C
n.6098G>C
c.196G>C
n.490G>C
c.1397G>C (p.Cys466Ser)
c.1004G>C (p.Cys335Ser)
4g.186209267G=CA1519891502CYP4V2,KLKB1c.1400G= (p.Cys467=)
n.635G=
n.6098G=
c.196G=
n.490G=
c.1397G= (p.Cys466=)
c.1004G= (p.Cys335=)
4g.186209267G>TCA358950708CYP4V2,KLKB1c.1400G>T (p.Cys467Phe)
n.635G>T
n.6098G>T
c.196G>T
n.490G>T
c.1397G>T (p.Cys466Phe)
c.1004G>T (p.Cys335Phe)

Number of alleles fetched