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.186209162A=CA1519891439CYP4V2,KLKB1c.1295A= (p.Tyr432=)
n.530A=
n.5993A=
c.91A=
n.385A=
c.1292A= (p.Tyr431=)
c.899A= (p.Tyr300=)
4g.186209162A>CCA358950483CYP4V2,KLKB1c.1295A>C (p.Tyr432Ser)
n.530A>C
n.5993A>C
c.91A>C
n.385A>C
c.1292A>C (p.Tyr431Ser)
c.899A>C (p.Tyr300Ser)
 dbSNP gnomAD v4
4g.186209162A>GCA358950485CYP4V2,KLKB1c.1295A>G (p.Tyr432Cys)
n.530A>G
n.5993A>G
c.91A>G
n.385A>G
c.1292A>G (p.Tyr431Cys)
c.899A>G (p.Tyr300Cys)
4g.186209162A>TCA358950484CYP4V2,KLKB1c.1295A>T (p.Tyr432Phe)
n.530A>T
n.5993A>T
c.91A>T
n.385A>T
c.1292A>T (p.Tyr431Phe)
c.899A>T (p.Tyr300Phe)
4g.186209163C>ACA358950486CYP4V2,KLKB1c.1296C>A (p.Tyr432Ter)
n.531C>A
n.5994C>A
c.92C>A
n.386C>A
c.1293C>A (p.Tyr431Ter)
c.900C>A (p.Tyr300Ter)
4g.186209163C=CA1519891440CYP4V2,KLKB1c.1296C= (p.Tyr432=)
n.531C=
n.5994C=
c.92C=
n.386C=
c.1293C= (p.Tyr431=)
c.900C= (p.Tyr300=)
4g.186209163C>GCA358950487CYP4V2,KLKB1c.1296C>G (p.Tyr432Ter)
n.531C>G
n.5994C>G
c.92C>G
n.386C>G
c.1293C>G (p.Tyr431Ter)
c.900C>G (p.Tyr300Ter)
4g.186209163C>TCA442882540CYP4V2,KLKB1c.1296C>T (p.Tyr432=)
n.531C>T
n.5994C>T
c.92C>T
n.386C>T
c.1293C>T (p.Tyr431=)
c.900C>T (p.Tyr300=)
 dbSNP
4g.186209164T>ACA358950488CYP4V2,KLKB1c.1297T>A (p.Phe433Ile)
n.532T>A
n.5995T>A
c.93T>A
n.387T>A
c.1294T>A (p.Phe432Ile)
c.901T>A (p.Phe301Ile)
4g.186209164T>CCA358950490CYP4V2,KLKB1c.1297T>C (p.Phe433Leu)
n.532T>C
n.5995T>C
c.93T>C
n.387T>C
c.1294T>C (p.Phe432Leu)
c.901T>C (p.Phe301Leu)
 dbSNP gnomAD v4
4g.186209164T>GCA358950489CYP4V2,KLKB1c.1297T>G (p.Phe433Val)
n.532T>G
n.5995T>G
c.93T>G
n.387T>G
c.1294T>G (p.Phe432Val)
c.901T>G (p.Phe301Val)
4g.186209164T=CA1519891441CYP4V2,KLKB1c.1297T= (p.Phe433=)
n.532T=
n.5995T=
c.93T=
n.387T=
c.1294T= (p.Phe432=)
c.901T= (p.Phe301=)
4g.186209165T>ACA358950491CYP4V2,KLKB1c.1298T>A (p.Phe433Tyr)
n.533T>A
n.5996T>A
c.94T>A
n.388T>A
c.1295T>A (p.Phe432Tyr)
c.902T>A (p.Phe301Tyr)
4g.186209165T>CCA358950492CYP4V2,KLKB1c.1298T>C (p.Phe433Ser)
n.533T>C
n.5996T>C
c.94T>C
n.388T>C
c.1295T>C (p.Phe432Ser)
c.902T>C (p.Phe301Ser)
4g.186209165T>GCA358950493CYP4V2,KLKB1c.1298T>G (p.Phe433Cys)
n.533T>G
n.5996T>G
c.94T>G
n.388T>G
c.1295T>G (p.Phe432Cys)
c.902T>G (p.Phe301Cys)
4g.186209166C>ACA358950494CYP4V2,KLKB1c.1299C>A (p.Phe433Leu)
n.534C>A
n.5997C>A
c.95C>A
n.389C>A
c.1296C>A (p.Phe432Leu)
c.903C>A (p.Phe301Leu)
4g.186209166C=CA1519891442CYP4V2,KLKB1c.1299C= (p.Phe433=)
n.534C=
n.5997C=
c.95C=
n.389C=
c.1296C= (p.Phe432=)
c.903C= (p.Phe301=)
4g.186209166C>GCA358950495CYP4V2,KLKB1c.1299C>G (p.Phe433Leu)
n.534C>G
n.5997C>G
c.95C>G
n.389C>G
c.1296C>G (p.Phe432Leu)
c.903C>G (p.Phe301Leu)
4g.186209166C>TCA442882550CYP4V2,KLKB1c.1299C>T (p.Phe433=)
n.534C>T
n.5997C>T
c.95C>T
n.389C>T
c.1296C>T (p.Phe432=)
c.903C>T (p.Phe301=)
 dbSNP
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

Number of alleles fetched