Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.186210489G>ACA358950779CYP4V2,KLKB1c.1426G>A (p.Glu476Lys)
n.661G>A
n.6124G>A
c.201+1217G>A
n.516G>A
c.1423G>A (p.Glu475Lys)
c.1030G>A (p.Glu344Lys)
4g.186210489G>CCA358950780CYP4V2,KLKB1c.1426G>C (p.Glu476Gln)
n.661G>C
n.6124G>C
c.201+1217G>C
n.516G>C
c.1423G>C (p.Glu475Gln)
c.1030G>C (p.Glu344Gln)
4g.186210489G>TCA358950781CYP4V2,KLKB1c.1426G>T (p.Glu476Ter)
n.661G>T
n.6124G>T
c.201+1217G>T
n.516G>T
c.1423G>T (p.Glu475Ter)
c.1030G>T (p.Glu344Ter)
4g.186210490A=CA1519892058CYP4V2,KLKB1c.1427A= (p.Glu476=)
n.662A=
n.6125A=
c.201+1218A=
n.517A=
c.1424A= (p.Glu475=)
c.1031A= (p.Glu344=)
4g.186210490A>CCA358950782CYP4V2,KLKB1c.1427A>C (p.Glu476Ala)
n.662A>C
n.6125A>C
c.201+1218A>C
n.517A>C
c.1424A>C (p.Glu475Ala)
c.1031A>C (p.Glu344Ala)
4g.186210490A>GCA3162861CYP4V2,KLKB1c.1427A>G (p.Glu476Gly)
n.662A>G
n.6125A>G
c.201+1218A>G
n.517A>G
c.1424A>G (p.Glu475Gly)
c.1031A>G (p.Glu344Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186210490A>TCA358950783CYP4V2,KLKB1c.1427A>T (p.Glu476Val)
n.662A>T
n.6125A>T
c.201+1218A>T
n.517A>T
c.1424A>T (p.Glu475Val)
c.1031A>T (p.Glu344Val)
4g.186210491A>CCA358950784CYP4V2,KLKB1c.1428A>C (p.Glu476Asp)
n.663A>C
n.6126A>C
c.201+1219A>C
n.518A>C
c.1425A>C (p.Glu475Asp)
c.1032A>C (p.Glu344Asp)
4g.186210491A>GCA442641170CYP4V2,KLKB1c.1428A>G (p.Glu476=)
n.663A>G
n.6126A>G
c.201+1219A>G
n.518A>G
c.1425A>G (p.Glu475=)
c.1032A>G (p.Glu344=)
dbSNP gnomAD v4
4g.186210491A>TCA358950785CYP4V2,KLKB1c.1428A>T (p.Glu476Asp)
n.663A>T
n.6126A>T
c.201+1219A>T
n.518A>T
c.1425A>T (p.Glu475Asp)
c.1032A>T (p.Glu344Asp)
4g.186210492G>ACA358950786CYP4V2,KLKB1c.1429G>A (p.Glu477Lys)
n.664G>A
n.6127G>A
c.201+1220G>A
n.519G>A
c.1426G>A (p.Glu476Lys)
c.1033G>A (p.Glu345Lys)
4g.186210492G>CCA358950787CYP4V2,KLKB1c.1429G>C (p.Glu477Gln)
n.664G>C
n.6127G>C
c.201+1220G>C
n.519G>C
c.1426G>C (p.Glu476Gln)
c.1033G>C (p.Glu345Gln)
4g.186210492G=CA1519892059CYP4V2,KLKB1c.1429G= (p.Glu477=)
n.664G=
n.6127G=
c.201+1220G=
n.519G=
c.1426G= (p.Glu476=)
c.1033G= (p.Glu345=)
4g.186210492G>TCA358950788CYP4V2,KLKB1c.1429G>T (p.Glu477Ter)
n.664G>T
n.6127G>T
c.201+1220G>T
n.519G>T
c.1426G>T (p.Glu476Ter)
c.1033G>T (p.Glu345Ter)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.186210493A>CCA358950791CYP4V2,KLKB1c.1430A>C (p.Glu477Ala)
n.665A>C
n.6128A>C
c.201+1221A>C
n.520A>C
c.1427A>C (p.Glu476Ala)
c.1034A>C (p.Glu345Ala)
4g.186210493A>GCA358950790CYP4V2,KLKB1c.1430A>G (p.Glu477Gly)
n.665A>G
n.6128A>G
c.201+1221A>G
n.520A>G
c.1427A>G (p.Glu476Gly)
c.1034A>G (p.Glu345Gly)
gnomAD v4
4g.186210493A>TCA358950789CYP4V2,KLKB1c.1430A>T (p.Glu477Val)
n.665A>T
n.6128A>T
c.201+1221A>T
n.520A>T
c.1427A>T (p.Glu476Val)
c.1034A>T (p.Glu345Val)
4g.186210494A=CA1519892060CYP4V2,KLKB1c.1431A= (p.Glu477=)
n.666A=
n.6129A=
c.201+1222A=
n.521A=
c.1428A= (p.Glu476=)
c.1035A= (p.Glu345=)
4g.186210494A>CCA358950792CYP4V2,KLKB1c.1431A>C (p.Glu477Asp)
n.666A>C
n.6129A>C
c.201+1222A>C
n.521A>C
c.1428A>C (p.Glu476Asp)
c.1035A>C (p.Glu345Asp)
4g.186210494A>GCA3162862CYP4V2,KLKB1c.1431A>G (p.Glu477=)
n.666A>G
n.6129A>G
c.201+1222A>G
n.521A>G
c.1428A>G (p.Glu476=)
c.1035A>G (p.Glu345=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186210494A>TCA358950793CYP4V2,KLKB1c.1431A>T (p.Glu477Asp)
n.666A>T
n.6129A>T
c.201+1222A>T
n.521A>T
c.1428A>T (p.Glu476Asp)
c.1035A>T (p.Glu345Asp)
4g.186210495A>CCA358950794CYP4V2,KLKB1c.1432A>C (p.Lys478Gln)
n.667A>C
n.6130A>C
c.201+1223A>C
n.522A>C
c.1429A>C (p.Lys477Gln)
c.1036A>C (p.Lys346Gln)
4g.186210495A>GCA358950795CYP4V2,KLKB1c.1432A>G (p.Lys478Glu)
n.667A>G
n.6130A>G
c.201+1223A>G
n.522A>G
c.1429A>G (p.Lys477Glu)
c.1036A>G (p.Lys346Glu)
ClinVar gnomAD v4
4g.186210495A>TCA358950796CYP4V2,KLKB1c.1432A>T (p.Lys478Ter)
n.667A>T
n.6130A>T
c.201+1223A>T
n.522A>T
c.1429A>T (p.Lys477Ter)
c.1036A>T (p.Lys346Ter)
4g.186210496A>CCA358950799CYP4V2,KLKB1c.1433A>C (p.Lys478Thr)
n.668A>C
n.6131A>C
c.201+1224A>C
n.523A>C
c.1430A>C (p.Lys477Thr)
c.1037A>C (p.Lys346Thr)
4g.186210496A>GCA358950797CYP4V2,KLKB1c.1433A>G (p.Lys478Arg)
n.668A>G
n.6131A>G
c.201+1224A>G
n.523A>G
c.1430A>G (p.Lys477Arg)
c.1037A>G (p.Lys346Arg)
4g.186210496A>TCA358950798CYP4V2,KLKB1c.1433A>T (p.Lys478Met)
n.668A>T
n.6131A>T
c.201+1224A>T
n.523A>T
c.1430A>T (p.Lys477Met)
c.1037A>T (p.Lys346Met)
4g.186210497G>ACA442641173CYP4V2,KLKB1c.1434G>A (p.Lys478=)
n.669G>A
n.6132G>A
c.201+1225G>A
n.524G>A
c.1431G>A (p.Lys477=)
c.1038G>A (p.Lys346=)
ClinVar dbSNP gnomAD v4
4g.186210497G>CCA358950800CYP4V2,KLKB1c.1434G>C (p.Lys478Asn)
n.669G>C
n.6132G>C
c.201+1225G>C
n.524G>C
c.1431G>C (p.Lys477Asn)
c.1038G>C (p.Lys346Asn)
4g.186210497G>TCA358950801CYP4V2,KLKB1c.1434G>T (p.Lys478Asn)
n.669G>T
n.6132G>T
c.201+1225G>T
n.524G>T
c.1431G>T (p.Lys477Asn)
c.1038G>T (p.Lys346Asn)
4g.186210498A>CCA358950802CYP4V2,KLKB1c.1435A>C (p.Thr479Pro)
n.670A>C
n.6133A>C
c.201+1226A>C
n.525A>C
c.1432A>C (p.Thr478Pro)
c.1039A>C (p.Thr347Pro)
4g.186210498A>GCA358950803CYP4V2,KLKB1c.1435A>G (p.Thr479Ala)
n.670A>G
n.6133A>G
c.201+1226A>G
n.525A>G
c.1432A>G (p.Thr478Ala)
c.1039A>G (p.Thr347Ala)
4g.186210498A>TCA358950804CYP4V2,KLKB1c.1435A>T (p.Thr479Ser)
n.670A>T
n.6133A>T
c.201+1226A>T
n.525A>T
c.1432A>T (p.Thr478Ser)
c.1039A>T (p.Thr347Ser)
4g.186210499C>ACA358950805CYP4V2,KLKB1c.1436C>A (p.Thr479Asn)
n.671C>A
n.6134C>A
c.201+1227C>A
n.526C>A
c.1433C>A (p.Thr478Asn)
c.1040C>A (p.Thr347Asn)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.186210499C=CA1519892061CYP4V2,KLKB1c.1436C= (p.Thr479=)
n.671C=
n.6134C=
c.201+1227C=
n.526C=
c.1433C= (p.Thr478=)
c.1040C= (p.Thr347=)
4g.186210499C>GCA358950807CYP4V2,KLKB1c.1436C>G (p.Thr479Ser)
n.671C>G
n.6134C>G
c.201+1227C>G
n.526C>G
c.1433C>G (p.Thr478Ser)
c.1040C>G (p.Thr347Ser)
4g.186210499C>TCA358950806CYP4V2,KLKB1c.1436C>T (p.Thr479Ile)
n.671C>T
n.6134C>T
c.201+1227C>T
n.526C>T
c.1433C>T (p.Thr478Ile)
c.1040C>T (p.Thr347Ile)
4g.186210500delCA2695204062CYP4V2,KLKB1c.1437del (p.Ile480PhefsTer6)
n.672del
n.6135del
c.201+1228del
n.527del
c.1434del (p.Ile479PhefsTer6)
c.1041del (p.Ile348PhefsTer6)
4g.186210500C>ACA442641177CYP4V2,KLKB1c.1437C>A (p.Thr479=)
n.672C>A
n.6135C>A
c.201+1228C>A
n.527C>A
c.1434C>A (p.Thr478=)
c.1041C>A (p.Thr347=)
4g.186210500C>GCA442641175CYP4V2,KLKB1c.1437C>G (p.Thr479=)
n.672C>G
n.6135C>G
c.201+1228C>G
n.527C>G
c.1434C>G (p.Thr478=)
c.1041C>G (p.Thr347=)
4g.186210500C>TCA442641174CYP4V2,KLKB1c.1437C>T (p.Thr479=)
n.672C>T
n.6135C>T
c.201+1228C>T
n.527C>T
c.1434C>T (p.Thr478=)
c.1041C>T (p.Thr347=)
4g.186210501A>CCA358950808CYP4V2,KLKB1c.1438A>C (p.Ile480Leu)
n.673A>C
n.6136A>C
c.201+1229A>C
n.528A>C
c.1435A>C (p.Ile479Leu)
c.1042A>C (p.Ile348Leu)
4g.186210501A>GCA358950809CYP4V2,KLKB1c.1438A>G (p.Ile480Val)
n.673A>G
n.6136A>G
c.201+1229A>G
n.528A>G
c.1435A>G (p.Ile479Val)
c.1042A>G (p.Ile348Val)
4g.186210501A>TCA358950810CYP4V2,KLKB1c.1438A>T (p.Ile480Phe)
n.673A>T
n.6136A>T
c.201+1229A>T
n.528A>T
c.1435A>T (p.Ile479Phe)
c.1042A>T (p.Ile348Phe)
COSMIC
4g.186210502T>ACA358950811CYP4V2,KLKB1c.1439T>A (p.Ile480Asn)
n.674T>A
n.6137T>A
c.201+1230T>A
n.529T>A
c.1436T>A (p.Ile479Asn)
c.1043T>A (p.Ile348Asn)
4g.186210502T>CCA3162863CYP4V2,KLKB1c.1439T>C (p.Ile480Thr)
n.674T>C
n.6137T>C
c.201+1230T>C
n.529T>C
c.1436T>C (p.Ile479Thr)
c.1043T>C (p.Ile348Thr)
dbSNP ExAC gnomAD v4
4g.186210502T>GCA358950812CYP4V2,KLKB1c.1439T>G (p.Ile480Ser)
n.674T>G
n.6137T>G
c.201+1230T>G
n.529T>G
c.1436T>G (p.Ile479Ser)
c.1043T>G (p.Ile348Ser)
4g.186210502T=CA1519892062CYP4V2,KLKB1c.1439T= (p.Ile480=)
n.674T=
n.6137T=
c.201+1230T=
n.529T=
c.1436T= (p.Ile479=)
c.1043T= (p.Ile348=)
4g.186210503T>ACA442641180CYP4V2,KLKB1c.1440T>A (p.Ile480=)
n.675T>A
n.6138T>A
c.201+1231T>A
n.530T>A
c.1437T>A (p.Ile479=)
c.1044T>A (p.Ile348=)
4g.186210503T>CCA442641181CYP4V2,KLKB1c.1440T>C (p.Ile480=)
n.675T>C
n.6138T>C
c.201+1231T>C
n.530T>C
c.1437T>C (p.Ile479=)
c.1044T>C (p.Ile348=)
gnomAD v4
4g.186210503T>GCA358950813CYP4V2,KLKB1c.1440T>G (p.Ile480Met)
n.675T>G
n.6138T>G
c.201+1231T>G
n.530T>G
c.1437T>G (p.Ile479Met)
c.1044T>G (p.Ile348Met)
4g.186210504C>ACA3162865CYP4V2,KLKB1c.1441C>A (p.Leu481Ile)
n.676C>A
n.6139C>A
c.201+1232C>A
n.531C>A
c.1438C>A (p.Leu480Ile)
c.1045C>A (p.Leu349Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.186210504C=CA1519892063CYP4V2,KLKB1c.1441C= (p.Leu481=)
n.676C=
n.6139C=
c.201+1232C=
n.531C=
c.1438C= (p.Leu480=)
c.1045C= (p.Leu349=)
4g.186210504C>GCA3162864CYP4V2,KLKB1c.1441C>G (p.Leu481Val)
n.676C>G
n.6139C>G
c.201+1232C>G
n.531C>G
c.1438C>G (p.Leu480Val)
c.1045C>G (p.Leu349Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186210504C>TCA358950814CYP4V2,KLKB1c.1441C>T (p.Leu481Phe)
n.676C>T
n.6139C>T
c.201+1232C>T
n.531C>T
c.1438C>T (p.Leu480Phe)
c.1045C>T (p.Leu349Phe)
gnomAD v4
4g.186210505T>ACA358950817CYP4V2,KLKB1c.1442T>A (p.Leu481His)
n.677T>A
n.6140T>A
c.201+1233T>A
n.532T>A
c.1439T>A (p.Leu480His)
c.1046T>A (p.Leu349His)
4g.186210505T>CCA358950816CYP4V2,KLKB1c.1442T>C (p.Leu481Pro)
n.677T>C
n.6140T>C
c.201+1233T>C
n.532T>C
c.1439T>C (p.Leu480Pro)
c.1046T>C (p.Leu349Pro)
COSMIC
4g.186210505T>GCA358950815CYP4V2,KLKB1c.1442T>G (p.Leu481Arg)
n.677T>G
n.6140T>G
c.201+1233T>G
n.532T>G
c.1439T>G (p.Leu480Arg)
c.1046T>G (p.Leu349Arg)
gnomAD v4
4g.186210507delCA2695204063CYP4V2,KLKB1c.1444del (p.Ser482ArgfsTer4)
n.679del
n.6142del
c.201+1235del
n.534del
c.1441del (p.Ser481ArgfsTer4)
c.1048del (p.Ser350ArgfsTer4)
4g.186210506T>ACA442641185CYP4V2,KLKB1c.1443T>A (p.Leu481=)
n.678T>A
n.6141T>A
c.201+1234T>A
n.533T>A
c.1440T>A (p.Leu480=)
c.1047T>A (p.Leu349=)
4g.186210506T>CCA442641186CYP4V2,KLKB1c.1443T>C (p.Leu481=)
n.678T>C
n.6141T>C
c.201+1234T>C
n.533T>C
c.1440T>C (p.Leu480=)
c.1047T>C (p.Leu349=)
4g.186210506T>GCA442641187CYP4V2,KLKB1c.1443T>G (p.Leu481=)
n.678T>G
n.6141T>G
c.201+1234T>G
n.533T>G
c.1440T>G (p.Leu480=)
c.1047T>G (p.Leu349=)
4g.186210507T>ACA358950818CYP4V2,KLKB1c.1444T>A (p.Ser482Thr)
n.679T>A
n.6142T>A
c.201+1235T>A
n.534T>A
c.1441T>A (p.Ser481Thr)
c.1048T>A (p.Ser350Thr)
4g.186210507T>CCA3162866CYP4V2,KLKB1c.1444T>C (p.Ser482Pro)
n.679T>C
n.6142T>C
c.201+1235T>C
n.534T>C
c.1441T>C (p.Ser481Pro)
c.1048T>C (p.Ser350Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.186210507T>GCA358950819CYP4V2,KLKB1c.1444T>G (p.Ser482Ala)
n.679T>G
n.6142T>G
c.201+1235T>G
n.534T>G
c.1441T>G (p.Ser481Ala)
c.1048T>G (p.Ser350Ala)
ClinVar dbSNP
4g.186210507T=CA1519892064CYP4V2,KLKB1c.1444T= (p.Ser482=)
n.679T=
n.6142T=
c.201+1235T=
n.534T=
c.1441T= (p.Ser481=)
c.1048T= (p.Ser350=)
4g.186210508C>ACA343719CYP4V2,KLKB1c.1445C>A (p.Ser482Ter)
n.680C>A
n.6143C>A
c.201+1236C>A
n.535C>A
c.1442C>A (p.Ser481Ter)
c.1049C>A (p.Ser350Ter)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.186210508C=CA1519892065CYP4V2,KLKB1c.1445C= (p.Ser482=)
n.680C=
n.6143C=
c.201+1236C=
n.535C=
c.1442C= (p.Ser481=)
c.1049C= (p.Ser350=)
4g.186210508C>GCA358950820CYP4V2,KLKB1c.1445C>G (p.Ser482Trp)
n.680C>G
n.6143C>G
c.201+1236C>G
n.535C>G
c.1442C>G (p.Ser481Trp)
c.1049C>G (p.Ser350Trp)
dbSNP
4g.186210508C>TCA3162867CYP4V2,KLKB1c.1445C>T (p.Ser482Leu)
n.680C>T
n.6143C>T
c.201+1236C>T
n.535C>T
c.1442C>T (p.Ser481Leu)
c.1049C>T (p.Ser350Leu)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
4g.186210509G>ACA200875CYP4V2,KLKB1c.1446G>A (p.Ser482=)
n.681G>A
n.6144G>A
c.201+1237G>A
n.536G>A
c.1443G>A (p.Ser481=)
c.1050G>A (p.Ser350=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186210509G>CCA442641189CYP4V2,KLKB1c.1446G>C (p.Ser482=)
n.681G>C
n.6144G>C
c.201+1237G>C
n.536G>C
c.1443G>C (p.Ser481=)
c.1050G>C (p.Ser350=)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.186210509G=CA1519892066CYP4V2,KLKB1c.1446G= (p.Ser482=)
n.681G=
n.6144G=
c.201+1237G=
n.536G=
c.1443G= (p.Ser481=)
c.1050G= (p.Ser350=)
4g.186210509G>TCA3162868CYP4V2,KLKB1c.1446G>T (p.Ser482=)
n.681G>T
n.6144G>T
c.201+1237G>T
n.536G>T
c.1443G>T (p.Ser481=)
c.1050G>T (p.Ser350=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.186210510T>ACA358950821CYP4V2,KLKB1c.1447T>A (p.Cys483Ser)
n.682T>A
n.6145T>A
c.201+1238T>A
n.537T>A
c.1444T>A (p.Cys482Ser)
c.1051T>A (p.Cys351Ser)
4g.186210510T>CCA358950822CYP4V2,KLKB1c.1447T>C (p.Cys483Arg)
n.682T>C
n.6145T>C
c.201+1238T>C
n.537T>C
c.1444T>C (p.Cys482Arg)
c.1051T>C (p.Cys351Arg)
4g.186210510T>GCA358950823CYP4V2,KLKB1c.1447T>G (p.Cys483Gly)
n.682T>G
n.6145T>G
c.201+1238T>G
n.537T>G
c.1444T>G (p.Cys482Gly)
c.1051T>G (p.Cys351Gly)
4g.186210511G>ACA358950824CYP4V2,KLKB1c.1448G>A (p.Cys483Tyr)
n.683G>A
n.6146G>A
c.201+1239G>A
n.538G>A
c.1445G>A (p.Cys482Tyr)
c.1052G>A (p.Cys351Tyr)
dbSNP gnomAD v4
4g.186210511G>CCA358950825CYP4V2,KLKB1c.1448G>C (p.Cys483Ser)
n.683G>C
n.6146G>C
c.201+1239G>C
n.538G>C
c.1445G>C (p.Cys482Ser)
c.1052G>C (p.Cys351Ser)
4g.186210511G=CA1519892067CYP4V2,KLKB1c.1448G= (p.Cys483=)
n.683G=
n.6146G=
c.201+1239G=
n.538G=
c.1445G= (p.Cys482=)
c.1052G= (p.Cys351=)
4g.186210511G>TCA3162869CYP4V2,KLKB1c.1448G>T (p.Cys483Phe)
n.683G>T
n.6146G>T
c.201+1239G>T
n.538G>T
c.1445G>T (p.Cys482Phe)
c.1052G>T (p.Cys351Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.186210512C>ACA358950826CYP4V2,KLKB1c.1449C>A (p.Cys483Ter)
n.684C>A
n.6147C>A
c.201+1240C>A
n.539C>A
c.1446C>A (p.Cys482Ter)
c.1053C>A (p.Cys351Ter)
4g.186210512C>GCA358950827CYP4V2,KLKB1c.1449C>G (p.Cys483Trp)
n.684C>G
n.6147C>G
c.201+1240C>G
n.539C>G
c.1446C>G (p.Cys482Trp)
c.1053C>G (p.Cys351Trp)
4g.186210512C>TCA442641190CYP4V2,KLKB1c.1449C>T (p.Cys483=)
n.684C>T
n.6147C>T
c.201+1240C>T
n.539C>T
c.1446C>T (p.Cys482=)
c.1053C>T (p.Cys351=)
4g.186210513A>CCA358950828CYP4V2,KLKB1c.1450A>C (p.Ile484Leu)
n.685A>C
n.6148A>C
c.201+1241A>C
n.540A>C
c.1447A>C (p.Ile483Leu)
c.1054A>C (p.Ile352Leu)
4g.186210513A>GCA358950830CYP4V2,KLKB1c.1450A>G (p.Ile484Val)
n.685A>G
n.6148A>G
c.201+1241A>G
n.540A>G
c.1447A>G (p.Ile483Val)
c.1054A>G (p.Ile352Val)
4g.186210513A>TCA358950829CYP4V2,KLKB1c.1450A>T (p.Ile484Phe)
n.685A>T
n.6148A>T
c.201+1241A>T
n.540A>T
c.1447A>T (p.Ile483Phe)
c.1054A>T (p.Ile352Phe)
4g.186210514T>ACA358950831CYP4V2,KLKB1c.1451T>A (p.Ile484Asn)
n.686T>A
n.6149T>A
c.201+1242T>A
n.541T>A
c.1448T>A (p.Ile483Asn)
c.1055T>A (p.Ile352Asn)
4g.186210514T>CCA358950832CYP4V2,KLKB1c.1451T>C (p.Ile484Thr)
n.686T>C
n.6149T>C
c.201+1242T>C
n.541T>C
c.1448T>C (p.Ile483Thr)
c.1055T>C (p.Ile352Thr)
4g.186210514T>GCA358950833CYP4V2,KLKB1c.1451T>G (p.Ile484Ser)
n.686T>G
n.6149T>G
c.201+1242T>G
n.541T>G
c.1448T>G (p.Ile483Ser)
c.1055T>G (p.Ile352Ser)
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
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
4g.186210534G=CA1519892076CYP4V2,KLKB1c.1471G= (p.Glu491=)
n.706G=
n.6169G=
c.201+1262G=
n.561G=
c.1468G= (p.Glu490=)
c.1075G= (p.Glu359=)
4g.186210534G>TCA358950908CYP4V2,KLKB1c.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
4g.186210534_186210535insGGCCA645540548CYP4V2,KLKB1c.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
4g.186210535A>CCA358950912CYP4V2,KLKB1c.1472A>C (p.Glu491Ala)
n.707A>C
n.6170A>C
c.201+1263A>C
n.562A>C
c.1469A>C (p.Glu490Ala)
c.1076A>C (p.Glu359Ala)
4g.186210535A>GCA358950913CYP4V2,KLKB1c.1472A>G (p.Glu491Gly)
n.707A>G
n.6170A>G
c.201+1263A>G
n.562A>G
c.1469A>G (p.Glu490Gly)
c.1076A>G (p.Glu359Gly)
4g.186210535A>TCA358950915CYP4V2,KLKB1c.1472A>T (p.Glu491Val)
n.707A>T
n.6170A>T
c.201+1263A>T
n.562A>T
c.1469A>T (p.Glu490Val)
c.1076A>T (p.Glu359Val)
4g.186210536A>CCA358950916CYP4V2,KLKB1c.1473A>C (p.Glu491Asp)
n.708A>C
n.6171A>C
c.201+1264A>C
n.563A>C
c.1470A>C (p.Glu490Asp)
c.1077A>C (p.Glu359Asp)
4g.186210536A>GCA442641205CYP4V2,KLKB1c.1473A>G (p.Glu491=)
n.708A>G
n.6171A>G
c.201+1264A>G
n.563A>G
c.1470A>G (p.Glu490=)
c.1077A>G (p.Glu359=)
4g.186210536A>TCA358950917CYP4V2,KLKB1c.1473A>T (p.Glu491Asp)
n.708A>T
n.6171A>T
c.201+1264A>T
n.563A>T
c.1470A>T (p.Glu490Asp)
c.1077A>T (p.Glu359Asp)
4g.186210537T>ACA358950919CYP4V2,KLKB1c.1474T>A (p.Ser492Thr)
n.709T>A
n.6172T>A
c.201+1265T>A
n.564T>A
c.1471T>A (p.Ser491Thr)
c.1078T>A (p.Ser360Thr)
gnomAD v4
4g.186210537T>CCA358950921CYP4V2,KLKB1c.1474T>C (p.Ser492Pro)
n.709T>C
n.6172T>C
c.201+1265T>C
n.564T>C
c.1471T>C (p.Ser491Pro)
c.1078T>C (p.Ser360Pro)
4g.186210537T>GCA358950923CYP4V2,KLKB1c.1474T>G (p.Ser492Ala)
n.709T>G
n.6172T>G
c.201+1265T>G
n.564T>G
c.1471T>G (p.Ser491Ala)
c.1078T>G (p.Ser360Ala)
4g.186210537_186210539delCA645540549CYP4V2,KLKB1c.1474_1476del (p.Ser492del)
n.709_711del
n.6172_6174del
c.201+1265_201+1267del
n.564_566del
c.1471_1473del (p.Ser491del)
c.1078_1080del (p.Ser360del)
COSMIC
4g.186210538C>ACA358950925CYP4V2,KLKB1c.1475C>A (p.Ser492Tyr)
n.710C>A
n.6173C>A
c.201+1266C>A
n.565C>A
c.1472C>A (p.Ser491Tyr)
c.1079C>A (p.Ser360Tyr)
4g.186210538C>GCA358950928CYP4V2,KLKB1c.1475C>G (p.Ser492Cys)
n.710C>G
n.6173C>G
c.201+1266C>G
n.565C>G
c.1472C>G (p.Ser491Cys)
c.1079C>G (p.Ser360Cys)
4g.186210538C>TCA358950930CYP4V2,KLKB1c.1475C>T (p.Ser492Phe)
n.710C>T
n.6173C>T
c.201+1266C>T
n.565C>T
c.1472C>T (p.Ser491Phe)
c.1079C>T (p.Ser360Phe)
4g.186210539C>ACA442641206CYP4V2,KLKB1c.1476C>A (p.Ser492=)
n.711C>A
n.6174C>A
c.201+1267C>A
n.566C>A
c.1473C>A (p.Ser491=)
c.1080C>A (p.Ser360=)
4g.186210539C>GCA442641207CYP4V2,KLKB1c.1476C>G (p.Ser492=)
n.711C>G
n.6174C>G
c.201+1267C>G
n.566C>G
c.1473C>G (p.Ser491=)
c.1080C>G (p.Ser360=)
4g.186210539C>TCA442641208CYP4V2,KLKB1c.1476C>T (p.Ser492=)
n.711C>T
n.6174C>T
c.201+1267C>T
n.566C>T
c.1473C>T (p.Ser491=)
c.1080C>T (p.Ser360=)
4g.186210540A>CCA358950932CYP4V2,KLKB1c.1477A>C (p.Asn493His)
n.712A>C
n.6175A>C
c.201+1268A>C
n.567A>C
c.1474A>C (p.Asn492His)
c.1081A>C (p.Asn361His)
gnomAD v4
4g.186210540A>GCA358950934CYP4V2,KLKB1c.1477A>G (p.Asn493Asp)
n.712A>G
n.6175A>G
c.201+1268A>G
n.567A>G
c.1474A>G (p.Asn492Asp)
c.1081A>G (p.Asn361Asp)
4g.186210540A>TCA358950933CYP4V2,KLKB1c.1477A>T (p.Asn493Tyr)
n.712A>T
n.6175A>T
c.201+1268A>T
n.567A>T
c.1474A>T (p.Asn492Tyr)
c.1081A>T (p.Asn361Tyr)
4g.186210541A=CA1519892077CYP4V2,KLKB1c.1478A= (p.Asn493=)
n.713A=
n.6176A=
c.201+1269A=
n.568A=
c.1475A= (p.Asn492=)
c.1082A= (p.Asn361=)
4g.186210541A>CCA358950935CYP4V2,KLKB1c.1478A>C (p.Asn493Thr)
n.713A>C
n.6176A>C
c.201+1269A>C
n.568A>C
c.1475A>C (p.Asn492Thr)
c.1082A>C (p.Asn361Thr)
4g.186210541A>GCA3162875CYP4V2,KLKB1c.1478A>G (p.Asn493Ser)
n.713A>G
n.6176A>G
c.201+1269A>G
n.568A>G
c.1475A>G (p.Asn492Ser)
c.1082A>G (p.Asn361Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186210541A>TCA358950937CYP4V2,KLKB1c.1478A>T (p.Asn493Ile)
n.713A>T
n.6176A>T
c.201+1269A>T
n.568A>T
c.1475A>T (p.Asn492Ile)
c.1082A>T (p.Asn361Ile)
4g.186210542C>ACA358950939CYP4V2,KLKB1c.1479C>A (p.Asn493Lys)
n.714C>A
n.6177C>A
c.201+1270C>A
n.569C>A
c.1476C>A (p.Asn492Lys)
c.1083C>A (p.Asn361Lys)
4g.186210542C=CA1519892078CYP4V2,KLKB1c.1479C= (p.Asn493=)
n.714C=
n.6177C=
c.201+1270C=
n.569C=
c.1476C= (p.Asn492=)
c.1083C= (p.Asn361=)
4g.186210542C>GCA358950940CYP4V2,KLKB1c.1479C>G (p.Asn493Lys)
n.714C>G
n.6177C>G
c.201+1270C>G
n.569C>G
c.1476C>G (p.Asn492Lys)
c.1083C>G (p.Asn361Lys)
4g.186210542C>TCA233874CYP4V2,KLKB1c.1479C>T (p.Asn493=)
n.714C>T
n.6177C>T
c.201+1270C>T
n.569C>T
c.1476C>T (p.Asn492=)
c.1083C>T (p.Asn361=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186210543C>ACA358950944CYP4V2,KLKB1c.1480C>A (p.Gln494Lys)
n.715C>A
n.6178C>A
c.201+1271C>A
n.570C>A
c.1477C>A (p.Gln493Lys)
c.1084C>A (p.Gln362Lys)
4g.186210543C=CA1519892079CYP4V2,KLKB1c.1480C= (p.Gln494=)
n.715C=
n.6178C=
c.201+1271C=
n.570C=
c.1477C= (p.Gln493=)
c.1084C= (p.Gln362=)
4g.186210543C>GCA358950945CYP4V2,KLKB1c.1480C>G (p.Gln494Glu)
n.715C>G
n.6178C>G
c.201+1271C>G
n.570C>G
c.1477C>G (p.Gln493Glu)
c.1084C>G (p.Gln362Glu)
dbSNP gnomAD v4
4g.186210543C>TCA358950947CYP4V2,KLKB1c.1480C>T (p.Gln494Ter)
n.715C>T
n.6178C>T
c.201+1271C>T
n.570C>T
c.1477C>T (p.Gln493Ter)
c.1084C>T (p.Gln362Ter)
ClinVar
4g.186210544A=CA1519892080CYP4V2,KLKB1c.1481A= (p.Gln494=)
n.716A=
n.6179A=
c.201+1272A=
n.571A=
c.1478A= (p.Gln493=)
c.1085A= (p.Gln362=)
4g.186210544A>CCA358950953CYP4V2,KLKB1c.1481A>C (p.Gln494Pro)
n.716A>C
n.6179A>C
c.201+1272A>C
n.571A>C
c.1478A>C (p.Gln493Pro)
c.1085A>C (p.Gln362Pro)
4g.186210544A>GCA358950951CYP4V2,KLKB1c.1481A>G (p.Gln494Arg)
n.716A>G
n.6179A>G
c.201+1272A>G
n.571A>G
c.1478A>G (p.Gln493Arg)
c.1085A>G (p.Gln362Arg)
dbSNP
4g.186210544A>TCA358950949CYP4V2,KLKB1c.1481A>T (p.Gln494Leu)
n.716A>T
n.6179A>T
c.201+1272A>T
n.571A>T
c.1478A>T (p.Gln493Leu)
c.1085A>T (p.Gln362Leu)
4g.186210545G>ACA442641209CYP4V2,KLKB1c.1482G>A (p.Gln494=)
n.717G>A
n.6180G>A
c.201+1273G>A
n.572G>A
c.1479G>A (p.Gln493=)
c.1086G>A (p.Gln362=)
4g.186210545G>CCA358950955CYP4V2,KLKB1c.1482G>C (p.Gln494His)
n.717G>C
n.6180G>C
c.201+1273G>C
n.572G>C
c.1479G>C (p.Gln493His)
c.1086G>C (p.Gln362His)
4g.186210545G>TCA358950957CYP4V2,KLKB1c.1482G>T (p.Gln494His)
n.717G>T
n.6180G>T
c.201+1273G>T
n.572G>T
c.1479G>T (p.Gln493His)
c.1086G>T (p.Gln362His)
4g.186210546A>CCA358950961CYP4V2,KLKB1c.1483A>C (p.Lys495Gln)
n.718A>C
n.6181A>C
c.201+1274A>C
n.573A>C
c.1480A>C (p.Lys494Gln)
c.1087A>C (p.Lys363Gln)
4g.186210546A>GCA358950963CYP4V2,KLKB1c.1483A>G (p.Lys495Glu)
n.718A>G
n.6181A>G
c.201+1274A>G
n.573A>G
c.1480A>G (p.Lys494Glu)
c.1087A>G (p.Lys363Glu)
4g.186210546A>TCA358950965CYP4V2,KLKB1c.1483A>T (p.Lys495Ter)
n.718A>T
n.6181A>T
c.201+1274A>T
n.573A>T
c.1480A>T (p.Lys494Ter)
c.1087A>T (p.Lys363Ter)
4g.186210547A>CCA358950966CYP4V2,KLKB1c.1484A>C (p.Lys495Thr)
n.719A>C
n.6182A>C
c.201+1275A>C
n.574A>C
c.1481A>C (p.Lys494Thr)
c.1088A>C (p.Lys363Thr)
4g.186210547A>GCA358950968CYP4V2,KLKB1c.1484A>G (p.Lys495Arg)
n.719A>G
n.6182A>G
c.201+1275A>G
n.574A>G
c.1481A>G (p.Lys494Arg)
c.1088A>G (p.Lys363Arg)
4g.186210547A>TCA358950970CYP4V2,KLKB1c.1484A>T (p.Lys495Ile)
n.719A>T
n.6182A>T
c.201+1275A>T
n.574A>T
c.1481A>T (p.Lys494Ile)
c.1088A>T (p.Lys363Ile)
4g.186210548A>CCA358950972CYP4V2,KLKB1c.1485A>C (p.Lys495Asn)
n.720A>C
n.6183A>C
c.201+1276A>C
n.575A>C
c.1482A>C (p.Lys494Asn)
c.1089A>C (p.Lys363Asn)
4g.186210548A>GCA442641210CYP4V2,KLKB1c.1485A>G (p.Lys495=)
n.720A>G
n.6183A>G
c.201+1276A>G
n.575A>G
c.1482A>G (p.Lys494=)
c.1089A>G (p.Lys363=)
gnomAD v4
4g.186210548A>TCA358950974CYP4V2,KLKB1c.1485A>T (p.Lys495Asn)
n.720A>T
n.6183A>T
c.201+1276A>T
n.575A>T
c.1482A>T (p.Lys494Asn)
c.1089A>T (p.Lys363Asn)
4g.186210549A=CA1519892081CYP4V2,KLKB1c.1486A= (p.Arg496=)
n.721A=
n.6184A=
c.201+1277A=
n.576A=
c.1483A= (p.Arg495=)
c.1090A= (p.Arg364=)
4g.186210549A>CCA442641211CYP4V2,KLKB1c.1486A>C (p.Arg496=)
n.721A>C
n.6184A>C
c.201+1277A>C
n.576A>C
c.1483A>C (p.Arg495=)
c.1090A>C (p.Arg364=)
4g.186210549A>GCA358950979CYP4V2,KLKB1c.1486A>G (p.Arg496Gly)
n.721A>G
n.6184A>G
c.201+1277A>G
n.576A>G
c.1483A>G (p.Arg495Gly)
c.1090A>G (p.Arg364Gly)
dbSNP gnomAD v2 gnomAD v4
4g.186210549A>TCA358950980CYP4V2,KLKB1c.1486A>T (p.Arg496Ter)
n.721A>T
n.6184A>T
c.201+1277A>T
n.576A>T
c.1483A>T (p.Arg495Ter)
c.1090A>T (p.Arg364Ter)
4g.186210550G>ACA3162876CYP4V2,KLKB1c.1487G>A (p.Arg496Lys)
n.722G>A
n.6185G>A
c.201+1278G>A
n.577G>A
c.1484G>A (p.Arg495Lys)
c.1091G>A (p.Arg364Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.186210550G>CCA358950982CYP4V2,KLKB1c.1487G>C (p.Arg496Thr)
n.722G>C
n.6185G>C
c.201+1278G>C
n.577G>C
c.1484G>C (p.Arg495Thr)
c.1091G>C (p.Arg364Thr)
4g.186210550G=CA1519892082CYP4V2,KLKB1c.1487G= (p.Arg496=)
n.722G=
n.6185G=
c.201+1278G=
n.577G=
c.1484G= (p.Arg495=)
c.1091G= (p.Arg364=)
4g.186210550G>TCA358950983CYP4V2,KLKB1c.1487G>T (p.Arg496Ile)
n.722G>T
n.6185G>T
c.201+1278G>T
n.577G>T
c.1484G>T (p.Arg495Ile)
c.1091G>T (p.Arg364Ile)
4g.186210551A=CA1519892083CYP4V2,KLKB1c.1488A= (p.Arg496=)
n.723A=
n.6186A=
c.201+1279A=
n.578A=
c.1485A= (p.Arg495=)
c.1092A= (p.Arg364=)
4g.186210551A>CCA358950987CYP4V2,KLKB1c.1488A>C (p.Arg496Ser)
n.723A>C
n.6186A>C
c.201+1279A>C
n.578A>C
c.1485A>C (p.Arg495Ser)
c.1092A>C (p.Arg364Ser)
4g.186210551A>GCA3162877CYP4V2,KLKB1c.1488A>G (p.Arg496=)
n.723A>G
n.6186A>G
c.201+1279A>G
n.578A>G
c.1485A>G (p.Arg495=)
c.1092A>G (p.Arg364=)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.186210551A>TCA358950991CYP4V2,KLKB1c.1488A>T (p.Arg496Ser)
n.723A>T
n.6186A>T
c.201+1279A>T
n.578A>T
c.1485A>T (p.Arg495Ser)
c.1092A>T (p.Arg364Ser)
4g.186210552G>ACA358950993CYP4V2,KLKB1c.1489G>A (p.Glu497Lys)
n.724G>A
n.6187G>A
c.201+1280G>A
n.579G>A
c.1486G>A (p.Glu496Lys)
c.1093G>A (p.Glu365Lys)
4g.186210552G>CCA358950995CYP4V2,KLKB1c.1489G>C (p.Glu497Gln)
n.724G>C
n.6187G>C
c.201+1280G>C
n.579G>C
c.1486G>C (p.Glu496Gln)
c.1093G>C (p.Glu365Gln)
4g.186210552G>TCA358950997CYP4V2,KLKB1c.1489G>T (p.Glu497Ter)
n.724G>T
n.6187G>T
c.201+1280G>T
n.579G>T
c.1486G>T (p.Glu496Ter)
c.1093G>T (p.Glu365Ter)
4g.186210553A>CCA358950999CYP4V2,KLKB1c.1490A>C (p.Glu497Ala)
n.725A>C
n.6188A>C
c.201+1281A>C
n.580A>C
c.1487A>C (p.Glu496Ala)
c.1094A>C (p.Glu365Ala)
4g.186210553A>GCA358951000CYP4V2,KLKB1c.1490A>G (p.Glu497Gly)
n.725A>G
n.6188A>G
c.201+1281A>G
n.580A>G
c.1487A>G (p.Glu496Gly)
c.1094A>G (p.Glu365Gly)
4g.186210553A>TCA358951001CYP4V2,KLKB1c.1490A>T (p.Glu497Val)
n.725A>T
n.6188A>T
c.201+1281A>T
n.580A>T
c.1487A>T (p.Glu496Val)
c.1094A>T (p.Glu365Val)
4g.186210554A=CA1519892084CYP4V2,KLKB1c.1491A= (p.Glu497=)
n.726A=
n.6189A=
c.201+1282A=
n.581A=
c.1488A= (p.Glu496=)
c.1095A= (p.Glu365=)
4g.186210554A>CCA358951002CYP4V2,KLKB1c.1491A>C (p.Glu497Asp)
n.726A>C
n.6189A>C
c.201+1282A>C
n.581A>C
c.1488A>C (p.Glu496Asp)
c.1095A>C (p.Glu365Asp)
4g.186210554A>GCA442641213CYP4V2,KLKB1c.1491A>G (p.Glu497=)
n.726A>G
n.6189A>G
c.201+1282A>G
n.581A>G
c.1488A>G (p.Glu496=)
c.1095A>G (p.Glu365=)
dbSNP gnomAD v3 gnomAD v4
4g.186210554A>TCA358951003CYP4V2,KLKB1c.1491A>T (p.Glu497Asp)
n.726A>T
n.6189A>T
c.201+1282A>T
n.581A>T
c.1488A>T (p.Glu496Asp)
c.1095A>T (p.Glu365Asp)
4g.186210555G>ACA358951007CYP4V2,KLKB1c.1492G>A (p.Glu498Lys)
n.727G>A
n.6190G>A
c.201+1283G>A
n.582G>A
c.1489G>A (p.Glu497Lys)
c.1096G>A (p.Glu366Lys)
4g.186210555G>CCA3162878CYP4V2,KLKB1c.1492G>C (p.Glu498Gln)
n.727G>C
n.6190G>C
c.201+1283G>C
n.582G>C
c.1489G>C (p.Glu497Gln)
c.1096G>C (p.Glu366Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.186210555G=CA1519892085CYP4V2,KLKB1c.1492G= (p.Glu498=)
n.727G=
n.6190G=
c.201+1283G=
n.582G=
c.1489G= (p.Glu497=)
c.1096G= (p.Glu366=)
4g.186210555G>TCA358951004CYP4V2,KLKB1c.1492G>T (p.Glu498Ter)
n.727G>T
n.6190G>T
c.201+1283G>T
n.582G>T
c.1489G>T (p.Glu497Ter)
c.1096G>T (p.Glu366Ter)
4g.186210556A=CA1519892086CYP4V2,KLKB1c.1493A= (p.Glu498=)
n.728A=
n.6191A=
c.201+1284A=
n.583A=
c.1490A= (p.Glu497=)
c.1097A= (p.Glu366=)
4g.186210556A>CCA3162879CYP4V2,KLKB1c.1493A>C (p.Glu498Ala)
n.728A>C
n.6191A>C
c.201+1284A>C
n.583A>C
c.1490A>C (p.Glu497Ala)
c.1097A>C (p.Glu366Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186210556A>GCA3162880CYP4V2,KLKB1c.1493A>G (p.Glu498Gly)
n.728A>G
n.6191A>G
c.201+1284A>G
n.583A>G
c.1490A>G (p.Glu497Gly)
c.1097A>G (p.Glu366Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.186210556A>TCA358951009CYP4V2,KLKB1c.1493A>T (p.Glu498Val)
n.728A>T
n.6191A>T
c.201+1284A>T
n.583A>T
c.1490A>T (p.Glu497Val)
c.1097A>T (p.Glu366Val)
4g.186210557G>ACA442641214CYP4V2,KLKB1c.1494G>A (p.Glu498=)
n.729G>A
n.6192G>A
c.201+1285G>A
n.584G>A
c.1491G>A (p.Glu497=)
c.1098G>A (p.Glu366=)
4g.186210557G>CCA358951011CYP4V2,KLKB1c.1494G>C (p.Glu498Asp)
n.729G>C
n.6192G>C
c.201+1285G>C
n.584G>C
c.1491G>C (p.Glu497Asp)
c.1098G>C (p.Glu366Asp)
4g.186210557G>TCA358951013CYP4V2,KLKB1c.1494G>T (p.Glu498Asp)
n.729G>T
n.6192G>T
c.201+1285G>T
n.584G>T
c.1491G>T (p.Glu497Asp)
c.1098G>T (p.Glu366Asp)
4g.186210558C>ACA358951016CYP4V2,KLKB1c.1495C>A (p.Leu499Ile)
n.730C>A
n.6193C>A
c.201+1286C>A
n.585C>A
c.1492C>A (p.Leu498Ile)
c.1099C>A (p.Leu367Ile)
4g.186210558C=CA1519892087CYP4V2,KLKB1c.1495C= (p.Leu499=)
n.730C=
n.6193C=
c.201+1286C=
n.585C=
c.1492C= (p.Leu498=)
c.1099C= (p.Leu367=)
4g.186210558C>GCA358951019CYP4V2,KLKB1c.1495C>G (p.Leu499Val)
n.730C>G
n.6193C>G
c.201+1286C>G
n.585C>G
c.1492C>G (p.Leu498Val)
c.1099C>G (p.Leu367Val)
gnomAD v4
4g.186210558C>TCA3162881CYP4V2,KLKB1c.1495C>T (p.Leu499Phe)
n.730C>T
n.6193C>T
c.201+1286C>T
n.585C>T
c.1492C>T (p.Leu498Phe)
c.1099C>T (p.Leu367Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186210559T>ACA358951023CYP4V2,KLKB1c.1496T>A (p.Leu499His)
n.731T>A
n.6194T>A
c.201+1287T>A
n.586T>A
c.1493T>A (p.Leu498His)
c.1100T>A (p.Leu367His)
4g.186210559T>CCA358951025CYP4V2,KLKB1c.1496T>C (p.Leu499Pro)
n.731T>C
n.6194T>C
c.201+1287T>C
n.586T>C
c.1493T>C (p.Leu498Pro)
c.1100T>C (p.Leu367Pro)
dbSNP gnomAD v4
4g.186210559T>GCA358951027CYP4V2,KLKB1c.1496T>G (p.Leu499Arg)
n.731T>G
n.6194T>G
c.201+1287T>G
n.586T>G
c.1493T>G (p.Leu498Arg)
c.1100T>G (p.Leu367Arg)
gnomAD v4
4g.186210559T=CA1519892088CYP4V2,KLKB1c.1496T= (p.Leu499=)
n.731T=
n.6194T=
c.201+1287T=
n.586T=
c.1493T= (p.Leu498=)
c.1100T= (p.Leu367=)
4g.186210560T>ACA442641216CYP4V2,KLKB1c.1497T>A (p.Leu499=)
n.732T>A
n.6195T>A
c.201+1288T>A
n.587T>A
c.1494T>A (p.Leu498=)
c.1101T>A (p.Leu367=)
4g.186210560T>CCA442641217CYP4V2,KLKB1c.1497T>C (p.Leu499=)
n.732T>C
n.6195T>C
c.201+1288T>C
n.587T>C
c.1494T>C (p.Leu498=)
c.1101T>C (p.Leu367=)
4g.186210560T>GCA442641218CYP4V2,KLKB1c.1497T>G (p.Leu499=)
n.732T>G
n.6195T>G
c.201+1288T>G
n.587T>G
c.1494T>G (p.Leu498=)
c.1101T>G (p.Leu367=)
4g.186210561G>ACA358951030CYP4V2,KLKB1c.1498G>A (p.Gly500Ser)
n.733G>A
n.6196G>A
c.201+1289G>A
n.588G>A
c.1495G>A (p.Gly499Ser)
c.1102G>A (p.Gly368Ser)
4g.186210561G>CCA358951032CYP4V2,KLKB1c.1498G>C (p.Gly500Arg)
n.733G>C
n.6196G>C
c.201+1289G>C
n.588G>C
c.1495G>C (p.Gly499Arg)
c.1102G>C (p.Gly368Arg)
4g.186210561G>TCA358951034CYP4V2,KLKB1c.1498G>T (p.Gly500Cys)
n.733G>T
n.6196G>T
c.201+1289G>T
n.588G>T
c.1495G>T (p.Gly499Cys)
c.1102G>T (p.Gly368Cys)
4g.186210562G>ACA358951041CYP4V2,KLKB1c.1499G>A (p.Gly500Asp)
n.734G>A
n.6197G>A
c.201+1290G>A
n.589G>A
c.1496G>A (p.Gly499Asp)
c.1103G>A (p.Gly368Asp)
4g.186210562G>CCA358951039CYP4V2,KLKB1c.1499G>C (p.Gly500Ala)
n.734G>C
n.6197G>C
c.201+1290G>C
n.589G>C
c.1496G>C (p.Gly499Ala)
c.1103G>C (p.Gly368Ala)
4g.186210562G>TCA358951036CYP4V2,KLKB1c.1499G>T (p.Gly500Val)
n.734G>T
n.6197G>T
c.201+1290G>T
n.589G>T
c.1496G>T (p.Gly499Val)
c.1103G>T (p.Gly368Val)
4g.186210563T>ACA442641221CYP4V2,KLKB1c.1500T>A (p.Gly500=)
n.735T>A
n.6198T>A
c.201+1291T>A
n.590T>A
c.1497T>A (p.Gly499=)
c.1104T>A (p.Gly368=)
4g.186210563T>CCA442641219CYP4V2,KLKB1c.1500T>C (p.Gly500=)
n.735T>C
n.6198T>C
c.201+1291T>C
n.590T>C
c.1497T>C (p.Gly499=)
c.1104T>C (p.Gly368=)
dbSNP gnomAD v2 gnomAD v4
4g.186210563T>GCA442641220CYP4V2,KLKB1c.1500T>G (p.Gly500=)
n.735T>G
n.6198T>G
c.201+1291T>G
n.590T>G
c.1497T>G (p.Gly499=)
c.1104T>G (p.Gly368=)
4g.186210563T=CA1519892089CYP4V2,KLKB1c.1500T= (p.Gly500=)
n.735T=
n.6198T=
c.201+1291T=
n.590T=
c.1497T= (p.Gly499=)
c.1104T= (p.Gly368=)
4g.186210564C>ACA358951044CYP4V2,KLKB1c.1501C>A (p.Leu501Ile)
n.736C>A
n.6199C>A
c.201+1292C>A
n.591C>A
c.1498C>A (p.Leu500Ile)
c.1105C>A (p.Leu369Ile)
4g.186210564C=CA1519892090CYP4V2,KLKB1c.1501C= (p.Leu501=)
n.736C=
n.6199C=
c.201+1292C=
n.591C=
c.1498C= (p.Leu500=)
c.1105C= (p.Leu369=)
4g.186210564C>GCA358951045CYP4V2,KLKB1c.1501C>G (p.Leu501Val)
n.736C>G
n.6199C>G
c.201+1292C>G
n.591C>G
c.1498C>G (p.Leu500Val)
c.1105C>G (p.Leu369Val)
ClinVar dbSNP gnomAD v4
4g.186210564C>TCA442641222CYP4V2,KLKB1c.1501C>T (p.Leu501=)
n.736C>T
n.6199C>T
c.201+1292C>T
n.591C>T
c.1498C>T (p.Leu500=)
c.1105C>T (p.Leu369=)
dbSNP
4g.186210565T>ACA358951048CYP4V2,KLKB1c.1502T>A (p.Leu501Gln)
n.737T>A
n.6200T>A
c.201+1293T>A
n.592T>A
c.1499T>A (p.Leu500Gln)
c.1106T>A (p.Leu369Gln)
4g.186210565T>CCA358951051CYP4V2,KLKB1c.1502T>C (p.Leu501Pro)
n.737T>C
n.6200T>C
c.201+1293T>C
n.592T>C
c.1499T>C (p.Leu500Pro)
c.1106T>C (p.Leu369Pro)
gnomAD v4
4g.186210565T>GCA358951053CYP4V2,KLKB1c.1502T>G (p.Leu501Arg)
n.737T>G
n.6200T>G
c.201+1293T>G
n.592T>G
c.1499T>G (p.Leu500Arg)
c.1106T>G (p.Leu369Arg)
4g.186210566A=CA1519892091CYP4V2,KLKB1c.1503A= (p.Leu501=)
n.738A=
n.6201A=
c.201+1294A=
n.593A=
c.1500A= (p.Leu500=)
c.1107A= (p.Leu369=)
4g.186210566A>CCA442641223CYP4V2,KLKB1c.1503A>C (p.Leu501=)
n.738A>C
n.6201A>C
c.201+1294A>C
n.593A>C
c.1500A>C (p.Leu500=)
c.1107A>C (p.Leu369=)
4g.186210566A>GCA3162882CYP4V2,KLKB1c.1503A>G (p.Leu501=)
n.738A>G
n.6201A>G
c.201+1294A>G
n.593A>G
c.1500A>G (p.Leu500=)
c.1107A>G (p.Leu369=)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.186210566A>TCA442641225CYP4V2,KLKB1c.1503A>T (p.Leu501=)
n.738A>T
n.6201A>T
c.201+1294A>T
n.593A>T
c.1500A>T (p.Leu500=)
c.1107A>T (p.Leu369=)
COSMIC
4g.186210567G>ACA358951057CYP4V2,KLKB1c.1504G>A (p.Glu502Lys)
n.739G>A
n.6202G>A
c.201+1295G>A
n.594G>A
c.1501G>A (p.Glu501Lys)
c.1108G>A (p.Glu370Lys)
4g.186210567G>CCA358951064CYP4V2,KLKB1c.1504G>C (p.Glu502Gln)
n.739G>C
n.6202G>C
c.201+1295G>C
n.594G>C
c.1501G>C (p.Glu501Gln)
c.1108G>C (p.Glu370Gln)
4g.186210567G>TCA358951066CYP4V2,KLKB1c.1504G>T (p.Glu502Ter)
n.739G>T
n.6202G>T
c.201+1295G>T
n.594G>T
c.1501G>T (p.Glu501Ter)
c.1108G>T (p.Glu370Ter)
4g.186210568A=CA1519892092CYP4V2,KLKB1c.1505A= (p.Glu502=)
n.740A=
n.6203A=
c.201+1296A=
n.595A=
c.1502A= (p.Glu501=)
c.1109A= (p.Glu370=)
4g.186210568A>CCA358951067CYP4V2,KLKB1c.1505A>C (p.Glu502Ala)
n.740A>C
n.6203A>C
c.201+1296A>C
n.595A>C
c.1502A>C (p.Glu501Ala)
c.1109A>C (p.Glu370Ala)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.186210568A>GCA358951069CYP4V2,KLKB1c.1505A>G (p.Glu502Gly)
n.740A>G
n.6203A>G
c.201+1296A>G
n.595A>G
c.1502A>G (p.Glu501Gly)
c.1109A>G (p.Glu370Gly)
4g.186210568A>TCA358951071CYP4V2,KLKB1c.1505A>T (p.Glu502Val)
n.740A>T
n.6203A>T
c.201+1296A>T
n.595A>T
c.1502A>T (p.Glu501Val)
c.1109A>T (p.Glu370Val)
dbSNP gnomAD v2 gnomAD v4
4g.186210569delCA2672898234CYP4V2,KLKB1c.1506del (p.Gly503AspfsTer3)
n.741del
n.6204del
c.201+1297del
n.596del
c.1503del (p.Gly502AspfsTer3)
c.1110del (p.Gly371AspfsTer3)
gnomAD v4
4g.186210569A>CCA358951074CYP4V2,KLKB1c.1506A>C (p.Glu502Asp)
n.741A>C
n.6204A>C
c.201+1297A>C
n.596A>C
c.1503A>C (p.Glu501Asp)
c.1110A>C (p.Glu370Asp)
4g.186210569A>GCA442641227CYP4V2,KLKB1c.1506A>G (p.Glu502=)
n.741A>G
n.6204A>G
c.201+1297A>G
n.596A>G
c.1503A>G (p.Glu501=)
c.1110A>G (p.Glu370=)
4g.186210569A>TCA358951076CYP4V2,KLKB1c.1506A>T (p.Glu502Asp)
n.741A>T
n.6204A>T
c.201+1297A>T
n.596A>T
c.1503A>T (p.Glu501Asp)
c.1110A>T (p.Glu370Asp)
4g.186210570G>ACA358951079CYP4V2,KLKB1c.1507G>A (p.Gly503Arg)
n.742G>A
n.6205G>A
c.201+1298G>A
n.597G>A
c.1504G>A (p.Gly502Arg)
c.1111G>A (p.Gly371Arg)
4g.186210570G>CCA3162883CYP4V2,KLKB1c.1507G>C (p.Gly503Arg)
n.742G>C
n.6205G>C
c.201+1298G>C
n.597G>C
c.1504G>C (p.Gly502Arg)
c.1111G>C (p.Gly371Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.186210570G=CA1519892093CYP4V2,KLKB1c.1507G= (p.Gly503=)
n.742G=
n.6205G=
c.201+1298G=
n.597G=
c.1504G= (p.Gly502=)
c.1111G= (p.Gly371=)
4g.186210570G>TCA358951083CYP4V2,KLKB1c.1507G>T (p.Gly503Ter)
n.742G>T
n.6205G>T
c.201+1298G>T
n.597G>T
c.1504G>T (p.Gly502Ter)
c.1111G>T (p.Gly371Ter)
4g.186210571G>ACA358951086CYP4V2,KLKB1c.1508G>A (p.Gly503Glu)
n.743G>A
n.6206G>A
c.201+1299G>A
n.598G>A
c.1505G>A (p.Gly502Glu)
c.1112G>A (p.Gly371Glu)
4g.186210571G>CCA358951089CYP4V2,KLKB1c.1508G>C (p.Gly503Ala)
n.743G>C
n.6206G>C
c.201+1299G>C
n.598G>C
c.1505G>C (p.Gly502Ala)
c.1112G>C (p.Gly371Ala)
4g.186210571G>TCA358951091CYP4V2,KLKB1c.1508G>T (p.Gly503Val)
n.743G>T
n.6206G>T
c.201+1299G>T
n.598G>T
c.1505G>T (p.Gly502Val)
c.1112G>T (p.Gly371Val)
4g.186210572A>CCA442641228CYP4V2,KLKB1c.1509A>C (p.Gly503=)
n.744A>C
n.6207A>C
c.201+1300A>C
n.599A>C
c.1506A>C (p.Gly502=)
c.1113A>C (p.Gly371=)
4g.186210572A>GCA442641229CYP4V2,KLKB1c.1509A>G (p.Gly503=)
n.744A>G
n.6207A>G
c.201+1300A>G
n.599A>G
c.1506A>G (p.Gly502=)
c.1113A>G (p.Gly371=)
4g.186210572A>TCA442641230CYP4V2,KLKB1c.1509A>T (p.Gly503=)
n.744A>T
n.6207A>T
c.201+1300A>T
n.599A>T
c.1506A>T (p.Gly502=)
c.1113A>T (p.Gly371=)
4g.186210573C>ACA358951094CYP4V2,KLKB1c.1510C>A (p.Gln504Lys)
n.745C>A
n.6208C>A
c.201+1301C>A
n.600C>A
c.1507C>A (p.Gln503Lys)
c.1114C>A (p.Gln372Lys)
4g.186210573C=CA1519892094CYP4V2,KLKB1c.1510C= (p.Gln504=)
n.745C=
n.6208C=
c.201+1301C=
n.600C=
c.1507C= (p.Gln503=)
c.1114C= (p.Gln372=)
4g.186210573C>GCA358951096CYP4V2,KLKB1c.1510C>G (p.Gln504Glu)
n.745C>G
n.6208C>G
c.201+1301C>G
n.600C>G
c.1507C>G (p.Gln503Glu)
c.1114C>G (p.Gln372Glu)
4g.186210573C>TCA358951098CYP4V2,KLKB1c.1510C>T (p.Gln504Ter)
n.745C>T
n.6208C>T
c.201+1301C>T
n.600C>T
c.1507C>T (p.Gln503Ter)
c.1114C>T (p.Gln372Ter)
dbSNP gnomAD v3 gnomAD v4
4g.186210574A=CA1519892095CYP4V2,KLKB1c.1511A= (p.Gln504=)
n.746A=
n.6209A=
c.201+1302A=
n.601A=
c.1508A= (p.Gln503=)
c.1115A= (p.Gln372=)
4g.186210574A>CCA358951101CYP4V2,KLKB1c.1511A>C (p.Gln504Pro)
n.746A>C
n.6209A>C
c.201+1302A>C
n.601A>C
c.1508A>C (p.Gln503Pro)
c.1115A>C (p.Gln372Pro)
4g.186210574A>GCA112136615CYP4V2,KLKB1c.1511A>G (p.Gln504Arg)
n.746A>G
n.6209A>G
c.201+1302A>G
n.601A>G
c.1508A>G (p.Gln503Arg)
c.1115A>G (p.Gln372Arg)
dbSNP gnomAD v3 gnomAD v4
4g.186210574A>TCA358951104CYP4V2,KLKB1c.1511A>T (p.Gln504Leu)
n.746A>T
n.6209A>T
c.201+1302A>T
n.601A>T
c.1508A>T (p.Gln503Leu)
c.1115A>T (p.Gln372Leu)
gnomAD v4
4g.186210575G>ACA3162885CYP4V2,KLKB1c.1512G>A (p.Gln504=)
n.747G>A
n.6210G>A
c.201+1303G>A
n.602G>A
c.1509G>A (p.Gln503=)
c.1116G>A (p.Gln372=)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.186210575G>CCA358951108CYP4V2,KLKB1c.1512G>C (p.Gln504His)
n.747G>C
n.6210G>C
c.201+1303G>C
n.602G>C
c.1509G>C (p.Gln503His)
c.1116G>C (p.Gln372His)
4g.186210575G=CA1519892096CYP4V2,KLKB1c.1512G= (p.Gln504=)
n.747G=
n.6210G=
c.201+1303G=
n.602G=
c.1509G= (p.Gln503=)
c.1116G= (p.Gln372=)
4g.186210575G>TCA358951110CYP4V2,KLKB1c.1512G>T (p.Gln504His)
n.747G>T
n.6210G>T
c.201+1303G>T
n.602G>T
c.1509G>T (p.Gln503His)
c.1116G>T (p.Gln372His)
4g.186210575_186210576delinsGTCA1519892097CYP4V2,KLKB1c.1512_1513delinsGT (p.Gln504=)
n.747_748delinsGT
n.6210_6211delinsGT
c.201+1303_201+1304delinsGT
n.602_603delinsGT
c.1509_1510delinsGT (p.Gln503=)
c.1116_1117delinsGT (p.Gln372=)
4g.186210576T>ACA358951113CYP4V2,KLKB1c.1513T>A (p.Leu505Met)
n.748T>A
n.6211T>A
c.201+1304T>A
n.603T>A
c.1510T>A (p.Leu504Met)
c.1117T>A (p.Leu373Met)
4g.186210576T>CCA442641231CYP4V2,KLKB1c.1513T>C (p.Leu505=)
n.748T>C
n.6211T>C
c.201+1304T>C
n.603T>C
c.1510T>C (p.Leu504=)
c.1117T>C (p.Leu373=)
ClinVar
4g.186210576T>GCA358951115CYP4V2,KLKB1c.1513T>G (p.Leu505Val)
n.748T>G
n.6211T>G
c.201+1304T>G
n.603T>G
c.1510T>G (p.Leu504Val)
c.1117T>G (p.Leu373Val)
4g.186210577delCA3162884CYP4V2,KLKB1c.1514del (p.Leu505Ter)
n.749del
n.6212del
c.201+1305del
n.604del
c.1511del (p.Leu504Ter)
c.1118del (p.Leu373Ter)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186210577T>ACA358951118CYP4V2,KLKB1c.1514T>A (p.Leu505Ter)
n.749T>A
n.6212T>A
c.201+1305T>A
n.604T>A
c.1511T>A (p.Leu504Ter)
c.1118T>A (p.Leu373Ter)
4g.186210577T>CCA358951120CYP4V2,KLKB1c.1514T>C (p.Leu505Ser)
n.749T>C
n.6212T>C
c.201+1305T>C
n.604T>C
c.1511T>C (p.Leu504Ser)
c.1118T>C (p.Leu373Ser)
gnomAD v4
4g.186210577T>GCA358951122CYP4V2,KLKB1c.1514T>G (p.Leu505Trp)
n.749T>G
n.6212T>G
c.201+1305T>G
n.604T>G
c.1511T>G (p.Leu504Trp)
c.1118T>G (p.Leu373Trp)
4g.186210578G>ACA3162886CYP4V2,KLKB1c.1515G>A (p.Leu505=)
n.750G>A
n.6213G>A
c.201+1306G>A
n.605G>A
c.1512G>A (p.Leu504=)
c.1119G>A (p.Leu373=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186210578G>CCA358951125CYP4V2,KLKB1c.1515G>C (p.Leu505Phe)
n.750G>C
n.6213G>C
c.201+1306G>C
n.605G>C
c.1512G>C (p.Leu504Phe)
c.1119G>C (p.Leu373Phe)
4g.186210578G=CA1519892098CYP4V2,KLKB1c.1515G= (p.Leu505=)
n.750G=
n.6213G=
c.201+1306G=
n.605G=
c.1512G= (p.Leu504=)
c.1119G= (p.Leu373=)
4g.186210578G>TCA358951128CYP4V2,KLKB1c.1515G>T (p.Leu505Phe)
n.750G>T
n.6213G>T
c.201+1306G>T
n.605G>T
c.1512G>T (p.Leu504Phe)
c.1119G>T (p.Leu373Phe)
4g.186210579A=CA1519892099CYP4V2,KLKB1c.1516A= (p.Ile506=)
n.751A=
n.6214A=
c.201+1307A=
n.606A=
c.1513A= (p.Ile505=)
c.1120A= (p.Ile374=)
4g.186210579A>CCA358951130CYP4V2,KLKB1c.1516A>C (p.Ile506Leu)
n.751A>C
n.6214A>C
c.201+1307A>C
n.606A>C
c.1513A>C (p.Ile505Leu)
c.1120A>C (p.Ile374Leu)
dbSNP
4g.186210579A>GCA358951132CYP4V2,KLKB1c.1516A>G (p.Ile506Val)
n.751A>G
n.6214A>G
c.201+1307A>G
n.606A>G
c.1513A>G (p.Ile505Val)
c.1120A>G (p.Ile374Val)
4g.186210579A>TCA358951134CYP4V2,KLKB1c.1516A>T (p.Ile506Phe)
n.751A>T
n.6214A>T
c.201+1307A>T
n.606A>T
c.1513A>T (p.Ile505Phe)
c.1120A>T (p.Ile374Phe)
4g.186210580T>ACA358951138CYP4V2,KLKB1c.1517T>A (p.Ile506Asn)
n.752T>A
n.6215T>A
c.201+1308T>A
n.607T>A
c.1514T>A (p.Ile505Asn)
c.1121T>A (p.Ile374Asn)
4g.186210580T>CCA358951141CYP4V2,KLKB1c.1517T>C (p.Ile506Thr)
n.752T>C
n.6215T>C
c.201+1308T>C
n.607T>C
c.1514T>C (p.Ile505Thr)
c.1121T>C (p.Ile374Thr)
4g.186210580T>GCA358951136CYP4V2,KLKB1c.1517T>G (p.Ile506Ser)
n.752T>G
n.6215T>G
c.201+1308T>G
n.607T>G
c.1514T>G (p.Ile505Ser)
c.1121T>G (p.Ile374Ser)
4g.186210581T>ACA442641232CYP4V2,KLKB1c.1518T>A (p.Ile506=)
n.753T>A
n.6216T>A
c.201+1309T>A
n.608T>A
c.1515T>A (p.Ile505=)
c.1122T>A (p.Ile374=)
4g.186210581T>CCA442641233CYP4V2,KLKB1c.1518T>C (p.Ile506=)
n.753T>C
n.6216T>C
c.201+1309T>C
n.608T>C
c.1515T>C (p.Ile505=)
c.1122T>C (p.Ile374=)
4g.186210581T>GCA358951144CYP4V2,KLKB1c.1518T>G (p.Ile506Met)
n.753T>G
n.6216T>G
c.201+1309T>G
n.608T>G
c.1515T>G (p.Ile505Met)
c.1122T>G (p.Ile374Met)
4g.186210582C>ACA358951146CYP4V2,KLKB1c.1519C>A (p.Leu507Ile)
n.754C>A
n.6217C>A
c.201+1310C>A
n.609C>A
c.1516C>A (p.Leu506Ile)
c.1123C>A (p.Leu375Ile)
4g.186210582C=CA1519892100CYP4V2,KLKB1c.1519C= (p.Leu507=)
n.754C=
n.6217C=
c.201+1310C=
n.609C=
c.1516C= (p.Leu506=)
c.1123C= (p.Leu375=)
4g.186210582C>GCA358951148CYP4V2,KLKB1c.1519C>G (p.Leu507Val)
n.754C>G
n.6217C>G
c.201+1310C>G
n.609C>G
c.1516C>G (p.Leu506Val)
c.1123C>G (p.Leu375Val)
4g.186210582C>TCA3162887CYP4V2,KLKB1c.1519C>T (p.Leu507Phe)
n.754C>T
n.6217C>T
c.201+1310C>T
n.609C>T
c.1516C>T (p.Leu506Phe)
c.1123C>T (p.Leu375Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.186210583T>ACA358951151CYP4V2,KLKB1c.1520T>A (p.Leu507His)
n.755T>A
n.6218T>A
c.201+1311T>A
n.610T>A
c.1517T>A (p.Leu506His)
c.1124T>A (p.Leu375His)
4g.186210583T>CCA358951153CYP4V2,KLKB1c.1520T>C (p.Leu507Pro)
n.755T>C
n.6218T>C
c.201+1311T>C
n.610T>C
c.1517T>C (p.Leu506Pro)
c.1124T>C (p.Leu375Pro)
4g.186210583T>GCA358951155CYP4V2,KLKB1c.1520T>G (p.Leu507Arg)
n.755T>G
n.6218T>G
c.201+1311T>G
n.610T>G
c.1517T>G (p.Leu506Arg)
c.1124T>G (p.Leu375Arg)
4g.186210584T>ACA442641234CYP4V2,KLKB1c.1521T>A (p.Leu507=)
n.756T>A
n.6219T>A
c.201+1312T>A
n.611T>A
c.1518T>A (p.Leu506=)
c.1125T>A (p.Leu375=)
4g.186210584T>CCA442641235CYP4V2,KLKB1c.1521T>C (p.Leu507=)
n.756T>C
n.6219T>C
c.201+1312T>C
n.611T>C
c.1518T>C (p.Leu506=)
c.1125T>C (p.Leu375=)
4g.186210584T>GCA442641236CYP4V2,KLKB1c.1521T>G (p.Leu507=)
n.756T>G
n.6219T>G
c.201+1312T>G
n.611T>G
c.1518T>G (p.Leu506=)
c.1125T>G (p.Leu375=)
4g.186210585C>ACA358951157CYP4V2,KLKB1c.1522C>A (p.Arg508Ser)
n.757C>A
n.6220C>A
c.201+1313C>A
n.612C>A
c.1519C>A (p.Arg507Ser)
c.1126C>A (p.Arg376Ser)
4g.186210585C>GCA358951161CYP4V2,KLKB1c.1522C>G (p.Arg508Gly)
n.757C>G
n.6220C>G
c.201+1313C>G
n.612C>G
c.1519C>G (p.Arg507Gly)
c.1126C>G (p.Arg376Gly)
4g.186210585C>TCA358951163CYP4V2,KLKB1c.1522C>T (p.Arg508Cys)
n.757C>T
n.6220C>T
c.201+1313C>T
n.612C>T
c.1519C>T (p.Arg507Cys)
c.1126C>T (p.Arg376Cys)
COSMIC
4g.186210586G>ACA339956CYP4V2,KLKB1c.1523G>A (p.Arg508His)
n.758G>A
n.6221G>A
c.201+1314G>A
n.613G>A
c.1520G>A (p.Arg507His)
c.1127G>A (p.Arg376His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186210586G>CCA358951166CYP4V2,KLKB1c.1523G>C (p.Arg508Pro)
n.758G>C
n.6221G>C
c.201+1314G>C
n.613G>C
c.1520G>C (p.Arg507Pro)
c.1127G>C (p.Arg376Pro)
dbSNP
4g.186210586G=CA1519892101CYP4V2,KLKB1c.1523G= (p.Arg508=)
n.758G=
n.6221G=
c.201+1314G=
n.613G=
c.1520G= (p.Arg507=)
c.1127G= (p.Arg376=)
4g.186210586G>TCA358951169CYP4V2,KLKB1c.1523G>T (p.Arg508Leu)
n.758G>T
n.6221G>T
c.201+1314G>T
n.613G>T
c.1520G>T (p.Arg507Leu)
c.1127G>T (p.Arg376Leu)
4g.186210587T>ACA442641237CYP4V2,KLKB1c.1524T>A (p.Arg508=)
n.759T>A
n.6222T>A
c.201+1315T>A
n.614T>A
c.1521T>A (p.Arg507=)
c.1128T>A (p.Arg376=)
4g.186210587T>CCA442641238CYP4V2,KLKB1c.1524T>C (p.Arg508=)
n.759T>C
n.6222T>C
c.201+1315T>C
n.614T>C
c.1521T>C (p.Arg507=)
c.1128T>C (p.Arg376=)
4g.186210587T>GCA442641239CYP4V2,KLKB1c.1524T>G (p.Arg508=)
n.759T>G
n.6222T>G
c.201+1315T>G
n.614T>G
c.1521T>G (p.Arg507=)
c.1128T>G (p.Arg376=)
4g.186210588C>ACA358951172CYP4V2,KLKB1c.1525C>A (p.Pro509Thr)
n.760C>A
n.6223C>A
c.201+1316C>A
n.615C>A
c.1522C>A (p.Pro508Thr)
c.1129C>A (p.Pro377Thr)
4g.186210588C>GCA358951174CYP4V2,KLKB1c.1525C>G (p.Pro509Ala)
n.760C>G
n.6223C>G
c.201+1316C>G
n.615C>G
c.1522C>G (p.Pro508Ala)
c.1129C>G (p.Pro377Ala)
4g.186210588C>TCA358951176CYP4V2,KLKB1c.1525C>T (p.Pro509Ser)
n.760C>T
n.6223C>T
c.201+1316C>T
n.615C>T
c.1522C>T (p.Pro508Ser)
c.1129C>T (p.Pro377Ser)
4g.186210589C>ACA358951178CYP4V2,KLKB1c.1526C>A (p.Pro509Gln)
n.761C>A
n.6224C>A
c.201+1317C>A
n.616C>A
c.1523C>A (p.Pro508Gln)
c.1130C>A (p.Pro377Gln)
4g.186210589C=CA1519892102CYP4V2,KLKB1c.1526C= (p.Pro509=)
n.761C=
n.6224C=
c.201+1317C=
n.616C=
c.1523C= (p.Pro508=)
c.1130C= (p.Pro377=)
4g.186210589C>GCA358951182CYP4V2,KLKB1c.1526C>G (p.Pro509Arg)
n.761C>G
n.6224C>G
c.201+1317C>G
n.616C>G
c.1523C>G (p.Pro508Arg)
c.1130C>G (p.Pro377Arg)
ClinVar
4g.186210589C>TCA343721CYP4V2,KLKB1c.1526C>T (p.Pro509Leu)
n.761C>T
n.6224C>T
c.201+1317C>T
n.616C>T
c.1523C>T (p.Pro508Leu)
c.1130C>T (p.Pro377Leu)
ClinVar dbSNP

Number of alleles fetched