Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.186209048_186209078dupCA557395759CYP4V2,KLKB1c.1226-45_1226-15dup (n.1226-45_1226-15dup)
n.461-45_461-15dup
n.5924-45_5924-15dup
c.22-45_22-15dup
n.316-45_316-15dup
c.1226-48_1226-18dup (n.1226-48_1226-18dup)
c.830-45_830-15dup (n.830-45_830-15dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.186209049_186209077delCA2764868801CYP4V2,KLKB1c.1226-44_1226-16del (n.1226-44_1226-16del)
n.461-44_461-16del
n.5924-44_5924-16del
c.22-44_22-16del
n.316-44_316-16del
c.1226-47_1226-19del (n.1226-47_1226-19del)
c.830-44_830-16del (n.830-44_830-16del)
4g.186209071_186209081delCA2578249723CYP4V2,KLKB1c.1226-22_1226-12del (n.1226-22_1226-12del)
n.461-22_461-12del
n.5924-22_5924-12del
c.22-22_22-12del
n.316-22_316-12del
c.1226-25_1226-15del (n.1226-25_1226-15del)
c.830-22_830-12del (n.830-22_830-12del)
 gnomAD v4
4g.186209074_186209075delCA2672897586CYP4V2,KLKB1c.1226-19_1226-18del (n.1226-19_1226-18del)
n.461-19_461-18del
n.5924-19_5924-18del
c.22-19_22-18del
n.316-19_316-18del
c.1226-22_1226-21del (n.1226-22_1226-21del)
c.830-19_830-18del (n.830-19_830-18del)
 gnomAD v4
4g.186209074A=CA1519891391CYP4V2,KLKB1c.1226-19A= (n.1226-19A=)
n.461-19A=
n.5924-19A=
c.22-19A=
n.316-19A=
c.1226-22A= (n.1226-22A=)
c.830-19A= (n.830-19A=)
4g.186209074A>GCA3162800CYP4V2,KLKB1c.1226-19A>G (n.1226-19A>G)
n.461-19A>G
n.5924-19A>G
c.22-19A>G
n.316-19A>G
c.1226-22A>G (n.1226-22A>G)
c.830-19A>G (n.830-19A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.186209075T>CCA649569183CYP4V2,KLKB1c.1226-18T>C (n.1226-18T>C)
n.461-18T>C
n.5924-18T>C
c.22-18T>C
n.316-18T>C
c.1226-21T>C (n.1226-21T>C)
c.830-18T>C (n.830-18T>C)
 COSMIC
4g.186209080_186209090delCA2578249724CYP4V2,KLKB1c.1226-13_1226-3del (n.1226-13_1226-3del)
n.461-13_461-3del
n.5924-13_5924-3del
c.22-13_22-3del
n.316-13_316-3del
c.1226-16_1226-6del (n.1226-16_1226-6del)
c.830-13_830-3del (n.830-13_830-3del)
4g.186209076T>CCA2764868809CYP4V2,KLKB1c.1226-17T>C (n.1226-17T>C)
n.461-17T>C
n.5924-17T>C
c.22-17T>C
n.316-17T>C
c.1226-20T>C (n.1226-20T>C)
c.830-17T>C (n.830-17T>C)
4g.186209076T>GCA792328146CYP4V2,KLKB1c.1226-17T>G (n.1226-17T>G)
n.461-17T>G
n.5924-17T>G
c.22-17T>G
n.316-17T>G
c.1226-20T>G (n.1226-20T>G)
c.830-17T>G (n.830-17T>G)
 dbSNP gnomAD v4
4g.186209076T=CA1519891392CYP4V2,KLKB1c.1226-17T= (n.1226-17T=)
n.461-17T=
n.5924-17T=
c.22-17T=
n.316-17T=
c.1226-20T= (n.1226-20T=)
c.830-17T= (n.830-17T=)
4g.186209077G>ACA2578249725CYP4V2,KLKB1c.1226-16G>A (n.1226-16G>A)
n.461-16G>A
n.5924-16G>A
c.22-16G>A
n.316-16G>A
c.1226-19G>A (n.1226-19G>A)
c.830-16G>A (n.830-16G>A)
 gnomAD v4
4g.186209077G=CA1519891393CYP4V2,KLKB1c.1226-16G= (n.1226-16G=)
n.461-16G=
n.5924-16G=
c.22-16G=
n.316-16G=
c.1226-19G= (n.1226-19G=)
c.830-16G= (n.830-16G=)
4g.186209077G>TCA557395764CYP4V2,KLKB1c.1226-16G>T (n.1226-16G>T)
n.461-16G>T
n.5924-16G>T
c.22-16G>T
n.316-16G>T
c.1226-19G>T (n.1226-19G>T)
c.830-16G>T (n.830-16G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.186209078A>GCA2764868811CYP4V2,KLKB1c.1226-15A>G (n.1226-15A>G)
n.461-15A>G
n.5924-15A>G
c.22-15A>G
n.316-15A>G
c.1226-18A>G (n.1226-18A>G)
c.830-15A>G (n.830-15A>G)
4g.186209079_186209091delCA2672897591CYP4V2,KLKB1c.1226-14_1226-2del (n.1226-14_1226-2del)
n.461-14_461-2del
n.5924-14_5924-2del
c.22-14_22-2del
n.316-14_316-2del
c.1226-17_1226-5del (n.1226-17_1226-5del)
c.830-14_830-2del (n.830-14_830-2del)
 gnomAD v4
4g.186209079C=CA1519891394CYP4V2,KLKB1c.1226-14C= (n.1226-14C=)
n.461-14C=
n.5924-14C=
c.22-14C=
n.316-14C=
c.1226-17C= (n.1226-17C=)
c.830-14C= (n.830-14C=)
4g.186209079C>TCA557395765CYP4V2,KLKB1c.1226-14C>T (n.1226-14C>T)
n.461-14C>T
n.5924-14C>T
c.22-14C>T
n.316-14C>T
c.1226-17C>T (n.1226-17C>T)
c.830-14C>T (n.830-14C>T)
 dbSNP gnomAD v2 gnomAD v4
4g.186209080T>CCA3162801CYP4V2,KLKB1c.1226-13T>C (n.1226-13T>C)
n.461-13T>C
n.5924-13T>C
c.22-13T>C
n.316-13T>C
c.1226-16T>C (n.1226-16T>C)
c.830-13T>C (n.830-13T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209080T=CA1519891395CYP4V2,KLKB1c.1226-13T= (n.1226-13T=)
n.461-13T=
n.5924-13T=
c.22-13T=
n.316-13T=
c.1226-16T= (n.1226-16T=)
c.830-13T= (n.830-13T=)
4g.186209081A>GCA2672897597CYP4V2,KLKB1c.1226-12A>G (n.1226-12A>G)
n.461-12A>G
n.5924-12A>G
c.22-12A>G
n.316-12A>G
c.1226-15A>G (n.1226-15A>G)
c.830-12A>G (n.830-12A>G)
 gnomAD v4
4g.186209083T>CCA1519891397CYP4V2,KLKB1c.1226-10T>C (n.1226-10T>C)
n.461-10T>C
n.5924-10T>C
c.22-10T>C
n.316-10T>C
c.1226-13T>C (n.1226-13T>C)
c.830-10T>C (n.830-10T>C)
 dbSNP
4g.186209083T=CA1519891396CYP4V2,KLKB1c.1226-10T= (n.1226-10T=)
n.461-10T=
n.5924-10T=
c.22-10T=
n.316-10T=
c.1226-13T= (n.1226-13T=)
c.830-10T= (n.830-10T=)
4g.186209085C=CA1519891398CYP4V2,KLKB1c.1226-8C= (n.1226-8C=)
n.461-8C=
n.5924-8C=
c.22-8C=
n.316-8C=
c.1226-11C= (n.1226-11C=)
c.830-8C= (n.830-8C=)
4g.186209085C>GCA1519891399CYP4V2,KLKB1c.1226-8C>G (n.1226-8C>G)
n.461-8C>G
n.5924-8C>G
c.22-8C>G
n.316-8C>G
c.1226-11C>G (n.1226-11C>G)
c.830-8C>G (n.830-8C>G)
 dbSNP
4g.186209085C>TCA3162802CYP4V2,KLKB1c.1226-8C>T (n.1226-8C>T)
n.461-8C>T
n.5924-8C>T
c.22-8C>T
n.316-8C>T
c.1226-11C>T (n.1226-11C>T)
c.830-8C>T (n.830-8C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.186209086T>CCA3162803CYP4V2,KLKB1c.1226-7T>C (n.1226-7T>C)
n.461-7T>C
n.5924-7T>C
c.22-7T>C
n.316-7T>C
c.1226-10T>C (n.1226-10T>C)
c.830-7T>C (n.830-7T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209086T=CA1519891400CYP4V2,KLKB1c.1226-7T= (n.1226-7T=)
n.461-7T=
n.5924-7T=
c.22-7T=
n.316-7T=
c.1226-10T= (n.1226-10T=)
c.830-7T= (n.830-7T=)
4g.186209086_186209102delinsTTGACAGCAGGTTACAGCA1519891401CYP4V2,KLKB1c.1226-7_1235delinsTTGACAGCAGGTTACAG
n.461-7_470delinsTTGACAGCAGGTTACAG
n.5924-7_5933delinsTTGACAGCAGGTTACAG
c.22-7_31delinsTTGACAGCAGGTTACAG
n.316-7_325delinsTTGACAGCAGGTTACAG
c.1226-10_1232delinsTTGACAGCAGGTTACAG
c.830-7_839delinsTTGACAGCAGGTTACAG
4g.186209087_186209102delCA343716CYP4V2,KLKB1c.1226-6_1235del
n.461-6_470del
n.5924-6_5933del
c.22-6_31del
n.316-6_325del
c.1226-9_1232del
c.830-6_839del
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.186209088G>ACA3162804CYP4V2,KLKB1c.1226-5G>A (n.1226-5G>A)
n.461-5G>A
n.5924-5G>A
c.22-5G>A
n.316-5G>A
c.1226-8G>A (n.1226-8G>A)
c.830-5G>A (n.830-5G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209088G=CA1519891402CYP4V2,KLKB1c.1226-5G= (n.1226-5G=)
n.461-5G=
n.5924-5G=
c.22-5G=
n.316-5G=
c.1226-8G= (n.1226-8G=)
c.830-5G= (n.830-5G=)
4g.186209089A=CA1519891403CYP4V2,KLKB1c.1226-4A= (n.1226-4A=)
n.461-4A=
n.5924-4A=
c.22-4A=
n.316-4A=
c.1226-7A= (n.1226-7A=)
c.830-4A= (n.830-4A=)
4g.186209089A>GCA792328160CYP4V2,KLKB1c.1226-4A>G (n.1226-4A>G)
n.461-4A>G
n.5924-4A>G
c.22-4A>G
n.316-4A>G
c.1226-7A>G (n.1226-7A>G)
c.830-4A>G (n.830-4A>G)
 dbSNP gnomAD v3 gnomAD v4
4g.186209089A>TCA2672897611CYP4V2,KLKB1c.1226-4A>T (n.1226-4A>T)
n.461-4A>T
n.5924-4A>T
c.22-4A>T
n.316-4A>T
c.1226-7A>T (n.1226-7A>T)
c.830-4A>T (n.830-4A>T)
 gnomAD v4
4g.186209091A>CCA358950337CYP4V2,KLKB1c.1226-2A>C (n.1226-2A>C)
n.461-2A>C
n.5924-2A>C
c.22-2A>C
n.316-2A>C
c.1226-5A>C (n.1226-5A>C)
c.830-2A>C (n.830-2A>C)
4g.186209091A>GCA358950338CYP4V2,KLKB1c.1226-2A>G (n.1226-2A>G)
n.461-2A>G
n.5924-2A>G
c.22-2A>G
n.316-2A>G
c.1226-5A>G (n.1226-5A>G)
c.830-2A>G (n.830-2A>G)
4g.186209091A>TCA358950339CYP4V2,KLKB1c.1226-2A>T (n.1226-2A>T)
n.461-2A>T
n.5924-2A>T
c.22-2A>T
n.316-2A>T
c.1226-5A>T (n.1226-5A>T)
c.830-2A>T (n.830-2A>T)
4g.186209092G>ACA358950340CYP4V2,KLKB1c.1226-1G>A (n.1226-1G>A)
n.461-1G>A
n.5924-1G>A
c.22-1G>A
n.316-1G>A
c.1226-4G>A (n.1226-4G>A)
c.830-1G>A (n.830-1G>A)
 COSMIC
4g.186209092G>CCA358950341CYP4V2,KLKB1c.1226-1G>C (n.1226-1G>C)
n.461-1G>C
n.5924-1G>C
c.22-1G>C
n.316-1G>C
c.1226-4G>C (n.1226-4G>C)
c.830-1G>C (n.830-1G>C)
4g.186209092G>TCA358950342CYP4V2,KLKB1c.1226-1G>T (n.1226-1G>T)
n.461-1G>T
n.5924-1G>T
c.22-1G>T
n.316-1G>T
c.1226-4G>T (n.1226-4G>T)
c.830-1G>T (n.830-1G>T)
4g.186209093C>ACA358950343CYP4V2,KLKB1c.1226C>A (p.Ala409Glu)
n.461C>A
n.5924C>A
c.22C>A
n.316C>A
c.1226-3C>A (n.1226-3C>A)
c.830C>A (p.Ala277Glu)
 COSMIC
4g.186209093C=CA1519891404CYP4V2,KLKB1c.1226C= (p.Ala409=)
n.461C=
n.5924C=
c.22C=
n.316C=
c.1226-3C= (n.1226-3C=)
c.830C= (p.Ala277=)
4g.186209093C>GCA358950344CYP4V2,KLKB1c.1226C>G (p.Ala409Gly)
n.461C>G
n.5924C>G
c.22C>G
n.316C>G
c.1226-3C>G (n.1226-3C>G)
c.830C>G (p.Ala277Gly)
4g.186209093C>TCA358950345CYP4V2,KLKB1c.1226C>T (p.Ala409Val)
n.461C>T
n.5924C>T
c.22C>T
n.316C>T
c.1226-3C>T (n.1226-3C>T)
c.830C>T (p.Ala277Val)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
4g.186209094A>CCA442882343CYP4V2,KLKB1c.1227A>C (p.Ala409=)
n.462A>C
n.5925A>C
c.23A>C
n.317A>C
c.1226-2A>C (n.1226-2A>C)
c.831A>C (p.Ala277=)
4g.186209094A>GCA442882341CYP4V2,KLKB1c.1227A>G (p.Ala409=)
n.462A>G
n.5925A>G
c.23A>G
n.317A>G
c.1226-2A>G (n.1226-2A>G)
c.831A>G (p.Ala277=)
4g.186209094A>TCA442882337CYP4V2,KLKB1c.1227A>T (p.Ala409=)
n.462A>T
n.5925A>T
c.23A>T
n.317A>T
c.1226-2A>T (n.1226-2A>T)
c.831A>T (p.Ala277=)
4g.186209095G>ACA358950346CYP4V2,KLKB1c.1228G>A (p.Gly410Ser)
n.463G>A
n.5926G>A
c.24G>A
n.318G>A
c.1226-1G>A (n.1226-1G>A)
c.832G>A (p.Gly278Ser)
4g.186209095G>CCA358950348CYP4V2,KLKB1c.1228G>C (p.Gly410Arg)
n.463G>C
n.5926G>C
c.24G>C
n.318G>C
c.1226-1G>C (n.1226-1G>C)
c.832G>C (p.Gly278Arg)
4g.186209095G>TCA358950347CYP4V2,KLKB1c.1228G>T (p.Gly410Cys)
n.463G>T
n.5926G>T
c.24G>T
n.318G>T
c.1226-1G>T (n.1226-1G>T)
c.832G>T (p.Gly278Cys)
4g.186209096G>ACA112134920CYP4V2,KLKB1c.1229G>A (p.Gly410Asp)
n.464G>A
n.5927G>A
c.25G>A
n.319G>A
c.1226G>A (p.Gly409Asp)
c.833G>A (p.Gly278Asp)
 dbSNP gnomAD v3 gnomAD v4
4g.186209096G>CCA358950349CYP4V2,KLKB1c.1229G>C (p.Gly410Ala)
n.464G>C
n.5927G>C
c.25G>C
n.319G>C
c.1226G>C (p.Gly409Ala)
c.833G>C (p.Gly278Ala)
4g.186209096G=CA1519891405CYP4V2,KLKB1c.1229G= (p.Gly410=)
n.464G=
n.5927G=
c.25G=
n.319G=
c.1226G= (p.Gly409=)
c.833G= (p.Gly278=)
4g.186209096G>TCA3162805CYP4V2,KLKB1c.1229G>T (p.Gly410Val)
n.464G>T
n.5927G>T
c.25G>T
n.319G>T
c.1226G>T (p.Gly409Val)
c.833G>T (p.Gly278Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.186209096_186209097delinsGTCA1519891406CYP4V2,KLKB1c.1229_1230delinsGT (p.Gly410=)
n.464_465delinsGT
n.5927_5928delinsGT
c.25_26delinsGT
n.319_320delinsGT
c.1226_1227delinsGT (p.Gly409=)
c.833_834delinsGT (p.Gly278=)
4g.186209097T>ACA442882364CYP4V2,KLKB1c.1230T>A (p.Gly410=)
n.465T>A
n.5928T>A
c.26T>A
n.320T>A
c.1227T>A (p.Gly409=)
c.834T>A (p.Gly278=)
4g.186209097T>CCA442882366CYP4V2,KLKB1c.1230T>C (p.Gly410=)
n.465T>C
n.5928T>C
c.26T>C
n.320T>C
c.1227T>C (p.Gly409=)
c.834T>C (p.Gly278=)
4g.186209097T>GCA442882368CYP4V2,KLKB1c.1230T>G (p.Gly410=)
n.465T>G
n.5928T>G
c.26T>G
n.320T>G
c.1227T>G (p.Gly409=)
c.834T>G (p.Gly278=)
4g.186209098delCA557395766CYP4V2,KLKB1c.1231del (p.Tyr411ThrfsTer4)
n.466del
n.5929del
c.27del
n.321del
c.1228del (p.Tyr410ThrfsTer4)
c.835del (p.Tyr279ThrfsTer4)
 dbSNP gnomAD v2 gnomAD v4
4g.186209098T>ACA358950350CYP4V2,KLKB1c.1231T>A (p.Tyr411Asn)
n.466T>A
n.5929T>A
c.27T>A
n.321T>A
c.1228T>A (p.Tyr410Asn)
c.835T>A (p.Tyr279Asn)
4g.186209098T>CCA358950351CYP4V2,KLKB1c.1231T>C (p.Tyr411His)
n.466T>C
n.5929T>C
c.27T>C
n.321T>C
c.1228T>C (p.Tyr410His)
c.835T>C (p.Tyr279His)
4g.186209098T>GCA358950352CYP4V2,KLKB1c.1231T>G (p.Tyr411Asp)
n.466T>G
n.5929T>G
c.27T>G
n.321T>G
c.1228T>G (p.Tyr410Asp)
c.835T>G (p.Tyr279Asp)
4g.186209098_186209100delinsTACCA1519891407CYP4V2,KLKB1c.1231_1233delinsTAC (p.Tyr411=)
n.466_468delinsTAC
n.5929_5931delinsTAC
c.27_29delinsTAC
n.321_323delinsTAC
c.1228_1230delinsTAC (p.Tyr410=)
c.835_837delinsTAC (p.Tyr279=)
4g.186209099A>CCA358950353CYP4V2,KLKB1c.1232A>C (p.Tyr411Ser)
n.467A>C
n.5930A>C
c.28A>C
n.322A>C
c.1229A>C (p.Tyr410Ser)
c.836A>C (p.Tyr279Ser)
4g.186209099A>GCA358950354CYP4V2,KLKB1c.1232A>G (p.Tyr411Cys)
n.467A>G
n.5930A>G
c.28A>G
n.322A>G
c.1229A>G (p.Tyr410Cys)
c.836A>G (p.Tyr279Cys)
 gnomAD v4
4g.186209099A>TCA358950355CYP4V2,KLKB1c.1232A>T (p.Tyr411Phe)
n.467A>T
n.5930A>T
c.28A>T
n.322A>T
c.1229A>T (p.Tyr410Phe)
c.836A>T (p.Tyr279Phe)
4g.186209100_186209101delCA3162806CYP4V2,KLKB1c.1233_1234del (p.Tyr411Ter)
n.468_469del
n.5931_5932del
c.29_30del
n.323_324del
c.1230_1231del (p.Tyr410Ter)
c.837_838del (p.Tyr279Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.186209100C>ACA358950356CYP4V2,KLKB1c.1233C>A (p.Tyr411Ter)
n.468C>A
n.5931C>A
c.29C>A
n.323C>A
c.1230C>A (p.Tyr410Ter)
c.837C>A (p.Tyr279Ter)
4g.186209100C=CA1519891408CYP4V2,KLKB1c.1233C= (p.Tyr411=)
n.468C=
n.5931C=
c.29C=
n.323C=
c.1230C= (p.Tyr410=)
c.837C= (p.Tyr279=)
4g.186209100C>GCA358950357CYP4V2,KLKB1c.1233C>G (p.Tyr411Ter)
n.468C>G
n.5931C>G
c.29C>G
n.323C>G
c.1230C>G (p.Tyr410Ter)
c.837C>G (p.Tyr279Ter)
 gnomAD v4
4g.186209100C>TCA442882378CYP4V2,KLKB1c.1233C>T (p.Tyr411=)
n.468C>T
n.5931C>T
c.29C>T
n.323C>T
c.1230C>T (p.Tyr410=)
c.837C>T (p.Tyr279=)
 dbSNP gnomAD v2 gnomAD v4
4g.186209101A>CCA442882380CYP4V2,KLKB1c.1234A>C (p.Arg412=)
n.469A>C
n.5932A>C
c.30A>C
n.324A>C
c.1231A>C (p.Arg411=)
c.838A>C (p.Arg280=)
4g.186209101A>GCA358950359CYP4V2,KLKB1c.1234A>G (p.Arg412Gly)
n.469A>G
n.5932A>G
c.30A>G
n.324A>G
c.1231A>G (p.Arg411Gly)
c.838A>G (p.Arg280Gly)
 gnomAD v4
4g.186209101A>TCA358950358CYP4V2,KLKB1c.1234A>T (p.Arg412Ter)
n.469A>T
n.5932A>T
c.30A>T
n.324A>T
c.1231A>T (p.Arg411Ter)
c.838A>T (p.Arg280Ter)
 gnomAD v4
4g.186209102G>ACA358950360CYP4V2,KLKB1c.1235G>A (p.Arg412Lys)
n.470G>A
n.5933G>A
c.31G>A
n.325G>A
c.1232G>A (p.Arg411Lys)
c.839G>A (p.Arg280Lys)
 ClinVar gnomAD v4
4g.186209102G>CCA3162807CYP4V2,KLKB1c.1235G>C (p.Arg412Thr)
n.470G>C
n.5933G>C
c.31G>C
n.325G>C
c.1232G>C (p.Arg411Thr)
c.839G>C (p.Arg280Thr)
 dbSNP ExAC gnomAD v4
4g.186209102G=CA1519891409CYP4V2,KLKB1c.1235G= (p.Arg412=)
n.470G=
n.5933G=
c.31G=
n.325G=
c.1232G= (p.Arg411=)
c.839G= (p.Arg280=)
4g.186209102G>TCA358950361CYP4V2,KLKB1c.1235G>T (p.Arg412Ile)
n.470G>T
n.5933G>T
c.31G>T
n.325G>T
c.1232G>T (p.Arg411Ile)
c.839G>T (p.Arg280Ile)
4g.186209103A>CCA358950362CYP4V2,KLKB1c.1236A>C (p.Arg412Ser)
n.471A>C
n.5934A>C
c.32A>C
n.326A>C
c.1233A>C (p.Arg411Ser)
c.840A>C (p.Arg280Ser)
4g.186209103A>GCA442882387CYP4V2,KLKB1c.1236A>G (p.Arg412=)
n.471A>G
n.5934A>G
c.32A>G
n.326A>G
c.1233A>G (p.Arg411=)
c.840A>G (p.Arg280=)
 gnomAD v4
4g.186209103A>TCA358950363CYP4V2,KLKB1c.1236A>T (p.Arg412Ser)
n.471A>T
n.5934A>T
c.32A>T
n.326A>T
c.1233A>T (p.Arg411Ser)
c.840A>T (p.Arg280Ser)
4g.186209104G>ACA358950364CYP4V2,KLKB1c.1237G>A (p.Val413Ile)
n.472G>A
n.5935G>A
c.33G>A
n.327G>A
c.1234G>A (p.Val412Ile)
c.841G>A (p.Val281Ile)
4g.186209104G>CCA358950365CYP4V2,KLKB1c.1237G>C (p.Val413Leu)
n.472G>C
n.5935G>C
c.33G>C
n.327G>C
c.1234G>C (p.Val412Leu)
c.841G>C (p.Val281Leu)
4g.186209104G>TCA358950366CYP4V2,KLKB1c.1237G>T (p.Val413Phe)
n.472G>T
n.5935G>T
c.33G>T
n.327G>T
c.1234G>T (p.Val412Phe)
c.841G>T (p.Val281Phe)
4g.186209105T>ACA358950367CYP4V2,KLKB1c.1238T>A (p.Val413Asp)
n.473T>A
n.5936T>A
c.34T>A
n.328T>A
c.1235T>A (p.Val412Asp)
c.842T>A (p.Val281Asp)
4g.186209105T>CCA358950368CYP4V2,KLKB1c.1238T>C (p.Val413Ala)
n.473T>C
n.5936T>C
c.34T>C
n.328T>C
c.1235T>C (p.Val412Ala)
c.842T>C (p.Val281Ala)
4g.186209105T>GCA358950369CYP4V2,KLKB1c.1238T>G (p.Val413Gly)
n.473T>G
n.5936T>G
c.34T>G
n.328T>G
c.1235T>G (p.Val412Gly)
c.842T>G (p.Val281Gly)
4g.186209106T>ACA442882395CYP4V2,KLKB1c.1239T>A (p.Val413=)
n.474T>A
n.5937T>A
c.35T>A
n.329T>A
c.1236T>A (p.Val412=)
c.843T>A (p.Val281=)
4g.186209106T>CCA442882399CYP4V2,KLKB1c.1239T>C (p.Val413=)
n.474T>C
n.5937T>C
c.35T>C
n.329T>C
c.1236T>C (p.Val412=)
c.843T>C (p.Val281=)
 gnomAD v4
4g.186209106T>GCA442882397CYP4V2,KLKB1c.1239T>G (p.Val413=)
n.474T>G
n.5937T>G
c.35T>G
n.329T>G
c.1236T>G (p.Val412=)
c.843T>G (p.Val281=)
4g.186209107C>ACA358950370CYP4V2,KLKB1c.1240C>A (p.Leu414Ile)
n.475C>A
n.5938C>A
c.36C>A
n.330C>A
c.1237C>A (p.Leu413Ile)
c.844C>A (p.Leu282Ile)
 gnomAD v4
4g.186209107C=CA1519891410CYP4V2,KLKB1c.1240C= (p.Leu414=)
n.475C=
n.5938C=
c.36C=
n.330C=
c.1237C= (p.Leu413=)
c.844C= (p.Leu282=)
4g.186209107C>GCA358950371CYP4V2,KLKB1c.1240C>G (p.Leu414Val)
n.475C>G
n.5938C>G
c.36C>G
n.330C>G
c.1237C>G (p.Leu413Val)
c.844C>G (p.Leu282Val)
4g.186209107C>TCA442882402CYP4V2,KLKB1c.1240C>T (p.Leu414=)
n.475C>T
n.5938C>T
c.36C>T
n.330C>T
c.1237C>T (p.Leu413=)
c.844C>T (p.Leu282=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.186209108T>ACA358950373CYP4V2,KLKB1c.1241T>A (p.Leu414Gln)
n.476T>A
n.5939T>A
c.37T>A
n.331T>A
c.1238T>A (p.Leu413Gln)
c.845T>A (p.Leu282Gln)
4g.186209108T>CCA3162808CYP4V2,KLKB1c.1241T>C (p.Leu414Pro)
n.476T>C
n.5939T>C
c.37T>C
n.331T>C
c.1238T>C (p.Leu413Pro)
c.845T>C (p.Leu282Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.186209108T>GCA358950372CYP4V2,KLKB1c.1241T>G (p.Leu414Arg)
n.476T>G
n.5939T>G
c.37T>G
n.331T>G
c.1238T>G (p.Leu413Arg)
c.845T>G (p.Leu282Arg)
 dbSNP
4g.186209108T=CA1519891411CYP4V2,KLKB1c.1241T= (p.Leu414=)
n.476T=
n.5939T=
c.37T=
n.331T=
c.1238T= (p.Leu413=)
c.845T= (p.Leu282=)
4g.186209109A>CCA442882407CYP4V2,KLKB1c.1242A>C (p.Leu414=)
n.477A>C
n.5940A>C
c.38A>C
n.332A>C
c.1239A>C (p.Leu413=)
c.846A>C (p.Leu282=)
4g.186209109A>GCA442882408CYP4V2,KLKB1c.1242A>G (p.Leu414=)
n.477A>G
n.5940A>G
c.38A>G
n.332A>G
c.1239A>G (p.Leu413=)
c.846A>G (p.Leu282=)
4g.186209109A>TCA442882410CYP4V2,KLKB1c.1242A>T (p.Leu414=)
n.477A>T
n.5940A>T
c.38A>T
n.332A>T
c.1239A>T (p.Leu413=)
c.846A>T (p.Leu282=)
4g.186209110A>CCA358950374CYP4V2,KLKB1c.1243A>C (p.Lys415Gln)
n.478A>C
n.5941A>C
c.39A>C
n.333A>C
c.1240A>C (p.Lys414Gln)
c.847A>C (p.Lys283Gln)
 gnomAD v4
4g.186209110A>GCA358950375CYP4V2,KLKB1c.1243A>G (p.Lys415Glu)
n.478A>G
n.5941A>G
c.39A>G
n.333A>G
c.1240A>G (p.Lys414Glu)
c.847A>G (p.Lys283Glu)
4g.186209110A>TCA358950376CYP4V2,KLKB1c.1243A>T (p.Lys415Ter)
n.478A>T
n.5941A>T
c.39A>T
n.333A>T
c.1240A>T (p.Lys414Ter)
c.847A>T (p.Lys283Ter)
4g.186209111A>CCA358950377CYP4V2,KLKB1c.1244A>C (p.Lys415Thr)
n.479A>C
n.5942A>C
c.40A>C
n.334A>C
c.1241A>C (p.Lys414Thr)
c.848A>C (p.Lys283Thr)
4g.186209111A>GCA358950378CYP4V2,KLKB1c.1244A>G (p.Lys415Arg)
n.479A>G
n.5942A>G
c.40A>G
n.334A>G
c.1241A>G (p.Lys414Arg)
c.848A>G (p.Lys283Arg)
4g.186209111A>TCA358950379CYP4V2,KLKB1c.1244A>T (p.Lys415Ile)
n.479A>T
n.5942A>T
c.40A>T
n.334A>T
c.1241A>T (p.Lys414Ile)
c.848A>T (p.Lys283Ile)
4g.186209112A>CCA358950380CYP4V2,KLKB1c.1245A>C (p.Lys415Asn)
n.480A>C
n.5943A>C
c.41A>C
n.335A>C
c.1242A>C (p.Lys414Asn)
c.849A>C (p.Lys283Asn)
4g.186209112A>GCA442882418CYP4V2,KLKB1c.1245A>G (p.Lys415=)
n.480A>G
n.5943A>G
c.41A>G
n.335A>G
c.1242A>G (p.Lys414=)
c.849A>G (p.Lys283=)
4g.186209112A>TCA358950381CYP4V2,KLKB1c.1245A>T (p.Lys415Asn)
n.480A>T
n.5943A>T
c.41A>T
n.335A>T
c.1242A>T (p.Lys414Asn)
c.849A>T (p.Lys283Asn)
4g.186209113G>ACA112134958CYP4V2,KLKB1c.1246G>A (p.Gly416Ser)
n.481G>A
n.5944G>A
c.42G>A
n.336G>A
c.1243G>A (p.Gly415Ser)
c.850G>A (p.Gly284Ser)
 dbSNP gnomAD v4
4g.186209113G>CCA358950382CYP4V2,KLKB1c.1246G>C (p.Gly416Arg)
n.481G>C
n.5944G>C
c.42G>C
n.336G>C
c.1243G>C (p.Gly415Arg)
c.850G>C (p.Gly284Arg)
4g.186209113G=CA1519891412CYP4V2,KLKB1c.1246G= (p.Gly416=)
n.481G=
n.5944G=
c.42G=
n.336G=
c.1243G= (p.Gly415=)
c.850G= (p.Gly284=)
4g.186209113G>TCA358950383CYP4V2,KLKB1c.1246G>T (p.Gly416Cys)
n.481G>T
n.5944G>T
c.42G>T
n.336G>T
c.1243G>T (p.Gly415Cys)
c.850G>T (p.Gly284Cys)
4g.186209114G>ACA358950384CYP4V2,KLKB1c.1247G>A (p.Gly416Asp)
n.482G>A
n.5945G>A
c.43G>A
n.337G>A
c.1244G>A (p.Gly415Asp)
c.851G>A (p.Gly284Asp)
 gnomAD v4
4g.186209114G>CCA358950385CYP4V2,KLKB1c.1247G>C (p.Gly416Ala)
n.482G>C
n.5945G>C
c.43G>C
n.337G>C
c.1244G>C (p.Gly415Ala)
c.851G>C (p.Gly284Ala)
4g.186209114G>TCA358950386CYP4V2,KLKB1c.1247G>T (p.Gly416Val)
n.482G>T
n.5945G>T
c.43G>T
n.337G>T
c.1244G>T (p.Gly415Val)
c.851G>T (p.Gly284Val)
 dbSNP
4g.186209115C>ACA442882429CYP4V2,KLKB1c.1248C>A (p.Gly416=)
n.483C>A
n.5946C>A
c.44C>A
n.338C>A
c.1245C>A (p.Gly415=)
c.852C>A (p.Gly284=)
4g.186209115C=CA1519891413CYP4V2,KLKB1c.1248C= (p.Gly416=)
n.483C=
n.5946C=
c.44C=
n.338C=
c.1245C= (p.Gly415=)
c.852C= (p.Gly284=)
4g.186209115C>GCA442882427CYP4V2,KLKB1c.1248C>G (p.Gly416=)
n.483C>G
n.5946C>G
c.44C>G
n.338C>G
c.1245C>G (p.Gly415=)
c.852C>G (p.Gly284=)
4g.186209115C>TCA442882426CYP4V2,KLKB1c.1248C>T (p.Gly416=)
n.483C>T
n.5946C>T
c.44C>T
n.338C>T
c.1245C>T (p.Gly415=)
c.852C>T (p.Gly284=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.186209116A=CA1519891414CYP4V2,KLKB1c.1249A= (p.Thr417=)
n.484A=
n.5947A=
c.45A=
n.339A=
c.1246A= (p.Thr416=)
c.853A= (p.Thr285=)
4g.186209116A>CCA358950387CYP4V2,KLKB1c.1249A>C (p.Thr417Pro)
n.484A>C
n.5947A>C
c.45A>C
n.339A>C
c.1246A>C (p.Thr416Pro)
c.853A>C (p.Thr285Pro)
4g.186209116A>GCA3162809CYP4V2,KLKB1c.1249A>G (p.Thr417Ala)
n.484A>G
n.5947A>G
c.45A>G
n.339A>G
c.1246A>G (p.Thr416Ala)
c.853A>G (p.Thr285Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.186209116A>TCA3162810CYP4V2,KLKB1c.1249A>T (p.Thr417Ser)
n.484A>T
n.5947A>T
c.45A>T
n.339A>T
c.1246A>T (p.Thr416Ser)
c.853A>T (p.Thr285Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.186209116dupCA2672897667CYP4V2,KLKB1c.1249dup (p.Thr417AsnfsTer2)
n.484dup
n.5947dup
c.45dup
n.339dup
c.1246dup (p.Thr416AsnfsTer2)
c.853dup (p.Thr285AsnfsTer2)
 gnomAD v4
4g.186209116_186209117delinsACCA1519891415CYP4V2,KLKB1c.1249_1250delinsAC (p.Thr417=)
n.484_485delinsAC
n.5947_5948delinsAC
c.45_46delinsAC
n.339_340delinsAC
c.1246_1247delinsAC (p.Thr416=)
c.853_854delinsAC (p.Thr285=)
4g.186209116_186209117delinsTTCA1139655859CYP4V2,KLKB1c.1249_1250delinsTT (p.Thr417Phe)
n.484_485delinsTT
n.5947_5948delinsTT
c.45_46delinsTT
n.339_340delinsTT
c.1246_1247delinsTT (p.Thr416Phe)
c.853_854delinsTT (p.Thr285Phe)
 ClinVar dbSNP
4g.186209117C>ACA358950388CYP4V2,KLKB1c.1250C>A (p.Thr417Asn)
n.485C>A
n.5948C>A
c.46C>A
n.340C>A
c.1247C>A (p.Thr416Asn)
c.854C>A (p.Thr285Asn)
4g.186209117C=CA1519891416CYP4V2,KLKB1c.1250C= (p.Thr417=)
n.485C=
n.5948C=
c.46C=
n.340C=
c.1247C= (p.Thr416=)
c.854C= (p.Thr285=)
4g.186209117C>GCA358950389CYP4V2,KLKB1c.1250C>G (p.Thr417Ser)
n.485C>G
n.5948C>G
c.46C>G
n.340C>G
c.1247C>G (p.Thr416Ser)
c.854C>G (p.Thr285Ser)
4g.186209117C>TCA3162811CYP4V2,KLKB1c.1250C>T (p.Thr417Ile)
n.485C>T
n.5948C>T
c.46C>T
n.340C>T
c.1247C>T (p.Thr416Ile)
c.854C>T (p.Thr285Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209118T>ACA442882436CYP4V2,KLKB1c.1251T>A (p.Thr417=)
n.486T>A
n.5949T>A
c.47T>A
n.341T>A
c.1248T>A (p.Thr416=)
c.855T>A (p.Thr285=)
4g.186209118T>CCA442882438CYP4V2,KLKB1c.1251T>C (p.Thr417=)
n.486T>C
n.5949T>C
c.47T>C
n.341T>C
c.1248T>C (p.Thr416=)
c.855T>C (p.Thr285=)
 gnomAD v4
4g.186209118T>GCA442882440CYP4V2,KLKB1c.1251T>G (p.Thr417=)
n.486T>G
n.5949T>G
c.47T>G
n.341T>G
c.1248T>G (p.Thr416=)
c.855T>G (p.Thr285=)
4g.186209119G>ACA358950390CYP4V2,KLKB1c.1252G>A (p.Glu418Lys)
n.487G>A
n.5950G>A
c.48G>A
n.342G>A
c.1249G>A (p.Glu417Lys)
c.856G>A (p.Glu286Lys)
4g.186209119G>CCA358950391CYP4V2,KLKB1c.1252G>C (p.Glu418Gln)
n.487G>C
n.5950G>C
c.48G>C
n.342G>C
c.1249G>C (p.Glu417Gln)
c.856G>C (p.Glu286Gln)
4g.186209119G>TCA358950392CYP4V2,KLKB1c.1252G>T (p.Glu418Ter)
n.487G>T
n.5950G>T
c.48G>T
n.342G>T
c.1249G>T (p.Glu417Ter)
c.856G>T (p.Glu286Ter)
4g.186209120A=CA1519891417CYP4V2,KLKB1c.1253A= (p.Glu418=)
n.488A=
n.5951A=
c.49A=
n.343A=
c.1250A= (p.Glu417=)
c.857A= (p.Glu286=)
4g.186209120A>CCA358950393CYP4V2,KLKB1c.1253A>C (p.Glu418Ala)
n.488A>C
n.5951A>C
c.49A>C
n.343A>C
c.1250A>C (p.Glu417Ala)
c.857A>C (p.Glu286Ala)
 dbSNP
4g.186209120A>GCA358950394CYP4V2,KLKB1c.1253A>G (p.Glu418Gly)
n.488A>G
n.5951A>G
c.49A>G
n.343A>G
c.1250A>G (p.Glu417Gly)
c.857A>G (p.Glu286Gly)
4g.186209120A>TCA358950395CYP4V2,KLKB1c.1253A>T (p.Glu418Val)
n.488A>T
n.5951A>T
c.49A>T
n.343A>T
c.1250A>T (p.Glu417Val)
c.857A>T (p.Glu286Val)
4g.186209121A>CCA358950396CYP4V2,KLKB1c.1254A>C (p.Glu418Asp)
n.489A>C
n.5952A>C
c.50A>C
n.344A>C
c.1251A>C (p.Glu417Asp)
c.858A>C (p.Glu286Asp)
4g.186209121A>GCA442882447CYP4V2,KLKB1c.1254A>G (p.Glu418=)
n.489A>G
n.5952A>G
c.50A>G
n.344A>G
c.1251A>G (p.Glu417=)
c.858A>G (p.Glu286=)
4g.186209121A>TCA358950397CYP4V2,KLKB1c.1254A>T (p.Glu418Asp)
n.489A>T
n.5952A>T
c.50A>T
n.344A>T
c.1251A>T (p.Glu417Asp)
c.858A>T (p.Glu286Asp)
4g.186209122G>ACA358950398CYP4V2,KLKB1c.1255G>A (p.Ala419Thr)
n.490G>A
n.5953G>A
c.51G>A
n.345G>A
c.1252G>A (p.Ala418Thr)
c.859G>A (p.Ala287Thr)
 dbSNP
4g.186209122G>CCA358950399CYP4V2,KLKB1c.1255G>C (p.Ala419Pro)
n.490G>C
n.5953G>C
c.51G>C
n.345G>C
c.1252G>C (p.Ala418Pro)
c.859G>C (p.Ala287Pro)
4g.186209122G=CA1519891418CYP4V2,KLKB1c.1255G= (p.Ala419=)
n.490G=
n.5953G=
c.51G=
n.345G=
c.1252G= (p.Ala418=)
c.859G= (p.Ala287=)
4g.186209122G>TCA358950400CYP4V2,KLKB1c.1255G>T (p.Ala419Ser)
n.490G>T
n.5953G>T
c.51G>T
n.345G>T
c.1252G>T (p.Ala418Ser)
c.859G>T (p.Ala287Ser)
4g.186209123C>ACA358950402CYP4V2,KLKB1c.1256C>A (p.Ala419Asp)
n.491C>A
n.5954C>A
c.52C>A
n.346C>A
c.1253C>A (p.Ala418Asp)
c.860C>A (p.Ala287Asp)
4g.186209123C>GCA358950403CYP4V2,KLKB1c.1256C>G (p.Ala419Gly)
n.491C>G
n.5954C>G
c.52C>G
n.346C>G
c.1253C>G (p.Ala418Gly)
c.860C>G (p.Ala287Gly)
4g.186209123C>TCA358950401CYP4V2,KLKB1c.1256C>T (p.Ala419Val)
n.491C>T
n.5954C>T
c.52C>T
n.346C>T
c.1253C>T (p.Ala418Val)
c.860C>T (p.Ala287Val)
 gnomAD v4
4g.186209124C>ACA442882454CYP4V2,KLKB1c.1257C>A (p.Ala419=)
n.492C>A
n.5955C>A
c.53C>A
n.347C>A
c.1254C>A (p.Ala418=)
c.861C>A (p.Ala287=)
4g.186209124C=CA1519891419CYP4V2,KLKB1c.1257C= (p.Ala419=)
n.492C=
n.5955C=
c.53C=
n.347C=
c.1254C= (p.Ala418=)
c.861C= (p.Ala287=)
4g.186209124C>GCA442882456CYP4V2,KLKB1c.1257C>G (p.Ala419=)
n.492C>G
n.5955C>G
c.53C>G
n.347C>G
c.1254C>G (p.Ala418=)
c.861C>G (p.Ala287=)
4g.186209124C>TCA3162812CYP4V2,KLKB1c.1257C>T (p.Ala419=)
n.492C>T
n.5955C>T
c.53C>T
n.347C>T
c.1254C>T (p.Ala418=)
c.861C>T (p.Ala287=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.186209125G>ACA112135002CYP4V2,KLKB1c.1258G>A (p.Val420Ile)
n.493G>A
n.5956G>A
c.54G>A
n.348G>A
c.1255G>A (p.Val419Ile)
c.862G>A (p.Val288Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.186209125G>CCA358950404CYP4V2,KLKB1c.1258G>C (p.Val420Leu)
n.493G>C
n.5956G>C
c.54G>C
n.348G>C
c.1255G>C (p.Val419Leu)
c.862G>C (p.Val288Leu)
4g.186209125G=CA1519891420CYP4V2,KLKB1c.1258G= (p.Val420=)
n.493G=
n.5956G=
c.54G=
n.348G=
c.1255G= (p.Val419=)
c.862G= (p.Val288=)
4g.186209125G>TCA358950405CYP4V2,KLKB1c.1258G>T (p.Val420Phe)
n.493G>T
n.5956G>T
c.54G>T
n.348G>T
c.1255G>T (p.Val419Phe)
c.862G>T (p.Val288Phe)
 dbSNP gnomAD v2 gnomAD v4
4g.186209126T>ACA358950406CYP4V2,KLKB1c.1259T>A (p.Val420Asp)
n.494T>A
n.5957T>A
c.55T>A
n.349T>A
c.1256T>A (p.Val419Asp)
c.863T>A (p.Val288Asp)
4g.186209126T>CCA358950407CYP4V2,KLKB1c.1259T>C (p.Val420Ala)
n.494T>C
n.5957T>C
c.55T>C
n.349T>C
c.1256T>C (p.Val419Ala)
c.863T>C (p.Val288Ala)
4g.186209126T>GCA358950408CYP4V2,KLKB1c.1259T>G (p.Val420Gly)
n.494T>G
n.5957T>G
c.55T>G
n.349T>G
c.1256T>G (p.Val419Gly)
c.863T>G (p.Val288Gly)
4g.186209126dupCA2672897686CYP4V2,KLKB1c.1259dup (p.Ile421HisfsTer22)
n.494dup
n.5957dup
c.55dup
n.349dup
c.1256dup (p.Ile420HisfsTer22)
c.863dup (p.Ile289HisfsTer22)
 gnomAD v4
4g.186209127C>ACA442882466CYP4V2,KLKB1c.1260C>A (p.Val420=)
n.495C>A
n.5958C>A
c.56C>A
n.350C>A
c.1257C>A (p.Val419=)
c.864C>A (p.Val288=)
4g.186209127C>GCA442882467CYP4V2,KLKB1c.1260C>G (p.Val420=)
n.495C>G
n.5958C>G
c.56C>G
n.350C>G
c.1257C>G (p.Val419=)
c.864C>G (p.Val288=)
4g.186209127C>TCA442882470CYP4V2,KLKB1c.1260C>T (p.Val420=)
n.495C>T
n.5958C>T
c.56C>T
n.350C>T
c.1257C>T (p.Val419=)
c.864C>T (p.Val288=)
4g.186209128A=CA1519891421CYP4V2,KLKB1c.1261A= (p.Ile421=)
n.496A=
n.5959A=
c.57A=
n.351A=
c.1258A= (p.Ile420=)
c.865A= (p.Ile289=)
4g.186209128A>CCA358950409CYP4V2,KLKB1c.1261A>C (p.Ile421Leu)
n.496A>C
n.5959A>C
c.57A>C
n.351A>C
c.1258A>C (p.Ile420Leu)
c.865A>C (p.Ile289Leu)
4g.186209128A>GCA358950411CYP4V2,KLKB1c.1261A>G (p.Ile421Val)
n.496A>G
n.5959A>G
c.57A>G
n.351A>G
c.1258A>G (p.Ile420Val)
c.865A>G (p.Ile289Val)
 dbSNP gnomAD v4
4g.186209128A>TCA358950410CYP4V2,KLKB1c.1261A>T (p.Ile421Phe)
n.496A>T
n.5959A>T
c.57A>T
n.351A>T
c.1258A>T (p.Ile420Phe)
c.865A>T (p.Ile289Phe)
4g.186209129T>ACA358950412CYP4V2,KLKB1c.1262T>A (p.Ile421Asn)
n.497T>A
n.5960T>A
c.58T>A
n.352T>A
c.1259T>A (p.Ile420Asn)
c.866T>A (p.Ile289Asn)
4g.186209129T>CCA358950413CYP4V2,KLKB1c.1262T>C (p.Ile421Thr)
n.497T>C
n.5960T>C
c.58T>C
n.352T>C
c.1259T>C (p.Ile420Thr)
c.866T>C (p.Ile289Thr)
4g.186209129T>GCA358950414CYP4V2,KLKB1c.1262T>G (p.Ile421Ser)
n.497T>G
n.5960T>G
c.58T>G
n.352T>G
c.1259T>G (p.Ile420Ser)
c.866T>G (p.Ile289Ser)
4g.186209130C>ACA442882478CYP4V2,KLKB1c.1263C>A (p.Ile421=)
n.498C>A
n.5961C>A
c.59C>A
n.353C>A
c.1260C>A (p.Ile420=)
c.867C>A (p.Ile289=)
4g.186209130C>GCA358950415CYP4V2,KLKB1c.1263C>G (p.Ile421Met)
n.498C>G
n.5961C>G
c.59C>G
n.353C>G
c.1260C>G (p.Ile420Met)
c.867C>G (p.Ile289Met)
4g.186209130C>TCA442882480CYP4V2,KLKB1c.1263C>T (p.Ile421=)
n.498C>T
n.5961C>T
c.59C>T
n.353C>T
c.1260C>T (p.Ile420=)
c.867C>T (p.Ile289=)
4g.186209131A>CCA358950416CYP4V2,KLKB1c.1264A>C (p.Ile422Leu)
n.499A>C
n.5962A>C
c.60A>C
n.354A>C
c.1261A>C (p.Ile421Leu)
c.868A>C (p.Ile290Leu)
4g.186209131A>GCA358950418CYP4V2,KLKB1c.1264A>G (p.Ile422Val)
n.499A>G
n.5962A>G
c.60A>G
n.354A>G
c.1261A>G (p.Ile421Val)
c.868A>G (p.Ile290Val)
 gnomAD v4
4g.186209131A>TCA358950417CYP4V2,KLKB1c.1264A>T (p.Ile422Phe)
n.499A>T
n.5962A>T
c.60A>T
n.354A>T
c.1261A>T (p.Ile421Phe)
c.868A>T (p.Ile290Phe)
4g.186209132T>ACA358950419CYP4V2,KLKB1c.1265T>A (p.Ile422Asn)
n.500T>A
n.5963T>A
c.61T>A
n.355T>A
c.1262T>A (p.Ile421Asn)
c.869T>A (p.Ile290Asn)
4g.186209132T>CCA358950420CYP4V2,KLKB1c.1265T>C (p.Ile422Thr)
n.500T>C
n.5963T>C
c.61T>C
n.355T>C
c.1262T>C (p.Ile421Thr)
c.869T>C (p.Ile290Thr)
4g.186209132T>GCA358950421CYP4V2,KLKB1c.1265T>G (p.Ile422Ser)
n.500T>G
n.5963T>G
c.61T>G
n.355T>G
c.1262T>G (p.Ile421Ser)
c.869T>G (p.Ile290Ser)
4g.186209133T>ACA442882487CYP4V2,KLKB1c.1266T>A (p.Ile422=)
n.501T>A
n.5964T>A
c.62T>A
n.356T>A
c.1263T>A (p.Ile421=)
c.870T>A (p.Ile290=)
4g.186209133T>CCA442882488CYP4V2,KLKB1c.1266T>C (p.Ile422=)
n.501T>C
n.5964T>C
c.62T>C
n.356T>C
c.1263T>C (p.Ile421=)
c.870T>C (p.Ile290=)
 gnomAD v4
4g.186209133T>GCA358950422CYP4V2,KLKB1c.1266T>G (p.Ile422Met)
n.501T>G
n.5964T>G
c.62T>G
n.356T>G
c.1263T>G (p.Ile421Met)
c.870T>G (p.Ile290Met)
4g.186209134C>ACA358950423CYP4V2,KLKB1c.1267C>A (p.Pro423Thr)
n.502C>A
n.5965C>A
c.63C>A
n.357C>A
c.1264C>A (p.Pro422Thr)
c.871C>A (p.Pro291Thr)
4g.186209134C=CA1519891422CYP4V2,KLKB1c.1267C= (p.Pro423=)
n.502C=
n.5965C=
c.63C=
n.357C=
c.1264C= (p.Pro422=)
c.871C= (p.Pro291=)
4g.186209134C>GCA358950424CYP4V2,KLKB1c.1267C>G (p.Pro423Ala)
n.502C>G
n.5965C>G
c.63C>G
n.357C>G
c.1264C>G (p.Pro422Ala)
c.871C>G (p.Pro291Ala)
4g.186209134C>TCA358950425CYP4V2,KLKB1c.1267C>T (p.Pro423Ser)
n.502C>T
n.5965C>T
c.63C>T
n.357C>T
c.1264C>T (p.Pro422Ser)
c.871C>T (p.Pro291Ser)
 dbSNP gnomAD v4
4g.186209135C>ACA358950426CYP4V2,KLKB1c.1268C>A (p.Pro423His)
n.503C>A
n.5966C>A
c.64C>A
n.358C>A
c.1265C>A (p.Pro422His)
c.872C>A (p.Pro291His)
4g.186209135C=CA1519891423CYP4V2,KLKB1c.1268C= (p.Pro423=)
n.503C=
n.5966C=
c.64C=
n.358C=
c.1265C= (p.Pro422=)
c.872C= (p.Pro291=)
4g.186209135C>GCA358950427CYP4V2,KLKB1c.1268C>G (p.Pro423Arg)
n.503C>G
n.5966C>G
c.64C>G
n.358C>G
c.1265C>G (p.Pro422Arg)
c.872C>G (p.Pro291Arg)
4g.186209135C>TCA358950428CYP4V2,KLKB1c.1268C>T (p.Pro423Leu)
n.503C>T
n.5966C>T
c.64C>T
n.358C>T
c.1265C>T (p.Pro422Leu)
c.872C>T (p.Pro291Leu)
 dbSNP gnomAD v4
4g.186209136C>ACA442882497CYP4V2,KLKB1c.1269C>A (p.Pro423=)
n.504C>A
n.5967C>A
c.65C>A
n.359C>A
c.1266C>A (p.Pro422=)
c.873C>A (p.Pro291=)
4g.186209136C=CA1519891424CYP4V2,KLKB1c.1269C= (p.Pro423=)
n.504C=
n.5967C=
c.65C=
n.359C=
c.1266C= (p.Pro422=)
c.873C= (p.Pro291=)
4g.186209136C>GCA442882499CYP4V2,KLKB1c.1269C>G (p.Pro423=)
n.504C>G
n.5967C>G
c.65C>G
n.359C>G
c.1266C>G (p.Pro422=)
c.873C>G (p.Pro291=)
4g.186209136C>TCA112135019CYP4V2,KLKB1c.1269C>T (p.Pro423=)
n.504C>T
n.5967C>T
c.65C>T
n.359C>T
c.1266C>T (p.Pro422=)
c.873C>T (p.Pro291=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.186209137T>ACA358950429CYP4V2,KLKB1c.1270T>A (p.Tyr424Asn)
n.505T>A
n.5968T>A
c.66T>A
n.360T>A
c.1267T>A (p.Tyr423Asn)
c.874T>A (p.Tyr292Asn)
4g.186209137T>CCA358950431CYP4V2,KLKB1c.1270T>C (p.Tyr424His)
n.505T>C
n.5968T>C
c.66T>C
n.360T>C
c.1267T>C (p.Tyr423His)
c.874T>C (p.Tyr292His)
4g.186209137T>GCA358950430CYP4V2,KLKB1c.1270T>G (p.Tyr424Asp)
n.505T>G
n.5968T>G
c.66T>G
n.360T>G
c.1267T>G (p.Tyr423Asp)
c.874T>G (p.Tyr292Asp)
4g.186209138A=CA1519891425CYP4V2,KLKB1c.1271A= (p.Tyr424=)
n.506A=
n.5969A=
c.67A=
n.361A=
c.1268A= (p.Tyr423=)
c.875A= (p.Tyr292=)
4g.186209138A>CCA358950432CYP4V2,KLKB1c.1271A>C (p.Tyr424Ser)
n.506A>C
n.5969A>C
c.67A>C
n.361A>C
c.1268A>C (p.Tyr423Ser)
c.875A>C (p.Tyr292Ser)
4g.186209138A>GCA3162813CYP4V2,KLKB1c.1271A>G (p.Tyr424Cys)
n.506A>G
n.5969A>G
c.67A>G
n.361A>G
c.1268A>G (p.Tyr423Cys)
c.875A>G (p.Tyr292Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209138A>TCA358950433CYP4V2,KLKB1c.1271A>T (p.Tyr424Phe)
n.506A>T
n.5969A>T
c.67A>T
n.361A>T
c.1268A>T (p.Tyr423Phe)
c.875A>T (p.Tyr292Phe)
4g.186209139T>ACA358950434CYP4V2,KLKB1c.1272T>A (p.Tyr424Ter)
n.507T>A
n.5970T>A
c.68T>A
n.362T>A
c.1269T>A (p.Tyr423Ter)
c.876T>A (p.Tyr292Ter)
4g.186209139T>CCA442882509CYP4V2,KLKB1c.1272T>C (p.Tyr424=)
n.507T>C
n.5970T>C
c.68T>C
n.362T>C
c.1269T>C (p.Tyr423=)
c.876T>C (p.Tyr292=)
 ClinVar dbSNP
4g.186209139T>GCA358950435CYP4V2,KLKB1c.1272T>G (p.Tyr424Ter)
n.507T>G
n.5970T>G
c.68T>G
n.362T>G
c.1269T>G (p.Tyr423Ter)
c.876T>G (p.Tyr292Ter)
4g.186209140G>ACA112135036CYP4V2,KLKB1c.1273G>A (p.Ala425Thr)
n.508G>A
n.5971G>A
c.69G>A
n.363G>A
c.1270G>A (p.Ala424Thr)
c.877G>A (p.Ala293Thr)
 ClinVar dbSNP gnomAD v4
4g.186209140G>CCA358950436CYP4V2,KLKB1c.1273G>C (p.Ala425Pro)
n.508G>C
n.5971G>C
c.69G>C
n.363G>C
c.1270G>C (p.Ala424Pro)
c.877G>C (p.Ala293Pro)
4g.186209140G=CA1519891426CYP4V2,KLKB1c.1273G= (p.Ala425=)
n.508G=
n.5971G=
c.69G=
n.363G=
c.1270G= (p.Ala424=)
c.877G= (p.Ala293=)
4g.186209140G>TCA358950437CYP4V2,KLKB1c.1273G>T (p.Ala425Ser)
n.508G>T
n.5971G>T
c.69G>T
n.363G>T
c.1270G>T (p.Ala424Ser)
c.877G>T (p.Ala293Ser)
4g.186209141C>ACA358950438CYP4V2,KLKB1c.1274C>A (p.Ala425Glu)
n.509C>A
n.5972C>A
c.70C>A
n.364C>A
c.1271C>A (p.Ala424Glu)
c.878C>A (p.Ala293Glu)
 gnomAD v4
4g.186209141C=CA1519891427CYP4V2,KLKB1c.1274C= (p.Ala425=)
n.509C=
n.5972C=
c.70C=
n.364C=
c.1271C= (p.Ala424=)
c.878C= (p.Ala293=)
4g.186209141C>GCA358950439CYP4V2,KLKB1c.1274C>G (p.Ala425Gly)
n.509C>G
n.5972C>G
c.70C>G
n.364C>G
c.1271C>G (p.Ala424Gly)
c.878C>G (p.Ala293Gly)
4g.186209141C>TCA3162814CYP4V2,KLKB1c.1274C>T (p.Ala425Val)
n.509C>T
n.5972C>T
c.70C>T
n.364C>T
c.1271C>T (p.Ala424Val)
c.878C>T (p.Ala293Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.186209142A=CA1519891428CYP4V2,KLKB1c.1275A= (p.Ala425=)
n.510A=
n.5973A=
c.71A=
n.365A=
c.1272A= (p.Ala424=)
c.879A= (p.Ala293=)
4g.186209142A>CCA442882527CYP4V2,KLKB1c.1275A>C (p.Ala425=)
n.510A>C
n.5973A>C
c.71A>C
n.365A>C
c.1272A>C (p.Ala424=)
c.879A>C (p.Ala293=)
 gnomAD v4
4g.186209142A>GCA442882528CYP4V2,KLKB1c.1275A>G (p.Ala425=)
n.510A>G
n.5973A>G
c.71A>G
n.365A>G
c.1272A>G (p.Ala424=)
c.879A>G (p.Ala293=)
 dbSNP gnomAD v2 gnomAD v4
4g.186209142A>TCA442882530CYP4V2,KLKB1c.1275A>T (p.Ala425=)
n.510A>T
n.5973A>T
c.71A>T
n.365A>T
c.1272A>T (p.Ala424=)
c.879A>T (p.Ala293=)
4g.186209143T>ACA358950440CYP4V2,KLKB1c.1276T>A (p.Leu426Met)
n.511T>A
n.5974T>A
c.72T>A
n.366T>A
c.1273T>A (p.Leu425Met)
c.880T>A (p.Leu294Met)
4g.186209143T>CCA442882533CYP4V2,KLKB1c.1276T>C (p.Leu426=)
n.511T>C
n.5974T>C
c.72T>C
n.366T>C
c.1273T>C (p.Leu425=)
c.880T>C (p.Leu294=)
4g.186209143T>GCA358950441CYP4V2,KLKB1c.1276T>G (p.Leu426Val)
n.511T>G
n.5974T>G
c.72T>G
n.366T>G
c.1273T>G (p.Leu425Val)
c.880T>G (p.Leu294Val)
4g.186209144T>ACA358950444CYP4V2,KLKB1c.1277T>A (p.Leu426Ter)
n.512T>A
n.5975T>A
c.73T>A
n.367T>A
c.1274T>A (p.Leu425Ter)
c.881T>A (p.Leu294Ter)
4g.186209144T>CCA358950443CYP4V2,KLKB1c.1277T>C (p.Leu426Ser)
n.512T>C
n.5975T>C
c.73T>C
n.367T>C
c.1274T>C (p.Leu425Ser)
c.881T>C (p.Leu294Ser)
 dbSNP
4g.186209144T>GCA358950442CYP4V2,KLKB1c.1277T>G (p.Leu426Trp)
n.512T>G
n.5975T>G
c.73T>G
n.367T>G
c.1274T>G (p.Leu425Trp)
c.881T>G (p.Leu294Trp)
4g.186209144T=CA1519891429CYP4V2,KLKB1c.1277T= (p.Leu426=)
n.512T=
n.5975T=
c.73T=
n.367T=
c.1274T= (p.Leu425=)
c.881T= (p.Leu294=)
4g.186209145G>ACA3162815CYP4V2,KLKB1c.1278G>A (p.Leu426=)
n.513G>A
n.5976G>A
c.74G>A
n.368G>A
c.1275G>A (p.Leu425=)
c.882G>A (p.Leu294=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.186209145G>CCA358950445CYP4V2,KLKB1c.1278G>C (p.Leu426Phe)
n.513G>C
n.5976G>C
c.74G>C
n.368G>C
c.1275G>C (p.Leu425Phe)
c.882G>C (p.Leu294Phe)
4g.186209145G=CA1519891430CYP4V2,KLKB1c.1278G= (p.Leu426=)
n.513G=
n.5976G=
c.74G=
n.368G=
c.1275G= (p.Leu425=)
c.882G= (p.Leu294=)
4g.186209145G>TCA358950446CYP4V2,KLKB1c.1278G>T (p.Leu426Phe)
n.513G>T
n.5976G>T
c.74G>T
n.368G>T
c.1275G>T (p.Leu425Phe)
c.882G>T (p.Leu294Phe)
4g.186209146C>ACA358950447CYP4V2,KLKB1c.1279C>A (p.His427Asn)
n.514C>A
n.5977C>A
c.75C>A
n.369C>A
c.1276C>A (p.His426Asn)
c.883C>A (p.His295Asn)
4g.186209146C=CA1519891431CYP4V2,KLKB1c.1279C= (p.His427=)
n.514C=
n.5977C=
c.75C=
n.369C=
c.1276C= (p.His426=)
c.883C= (p.His295=)
4g.186209146C>GCA358950448CYP4V2,KLKB1c.1279C>G (p.His427Asp)
n.514C>G
n.5977C>G
c.75C>G
n.369C>G
c.1276C>G (p.His426Asp)
c.883C>G (p.His295Asp)
4g.186209146C>TCA358950449CYP4V2,KLKB1c.1279C>T (p.His427Tyr)
n.514C>T
n.5977C>T
c.75C>T
n.369C>T
c.1276C>T (p.His426Tyr)
c.883C>T (p.His295Tyr)
 dbSNP gnomAD v2
4g.186209147A=CA1519891432CYP4V2,KLKB1c.1280A= (p.His427=)
n.515A=
n.5978A=
c.76A=
n.370A=
c.1277A= (p.His426=)
c.884A= (p.His295=)
4g.186209147A>CCA358950450CYP4V2,KLKB1c.1280A>C (p.His427Pro)
n.515A>C
n.5978A>C
c.76A>C
n.370A>C
c.1277A>C (p.His426Pro)
c.884A>C (p.His295Pro)
4g.186209147A>GCA358950451CYP4V2,KLKB1c.1280A>G (p.His427Arg)
n.515A>G
n.5978A>G
c.76A>G
n.370A>G
c.1277A>G (p.His426Arg)
c.884A>G (p.His295Arg)
 dbSNP
4g.186209147A>TCA358950452CYP4V2,KLKB1c.1280A>T (p.His427Leu)
n.515A>T
n.5978A>T
c.76A>T
n.370A>T
c.1277A>T (p.His426Leu)
c.884A>T (p.His295Leu)
4g.186209148C>ACA358950453CYP4V2,KLKB1c.1281C>A (p.His427Gln)
n.516C>A
n.5979C>A
c.77C>A
n.371C>A
c.1278C>A (p.His426Gln)
c.885C>A (p.His295Gln)
4g.186209148C>GCA358950454CYP4V2,KLKB1c.1281C>G (p.His427Gln)
n.516C>G
n.5979C>G
c.77C>G
n.371C>G
c.1278C>G (p.His426Gln)
c.885C>G (p.His295Gln)
4g.186209148C>TCA442882462CYP4V2,KLKB1c.1281C>T (p.His427=)
n.516C>T
n.5979C>T
c.77C>T
n.371C>T
c.1278C>T (p.His426=)
c.885C>T (p.His295=)
4g.186209149A>CCA442882468CYP4V2,KLKB1c.1282A>C (p.Arg428=)
n.517A>C
n.5980A>C
c.78A>C
n.372A>C
c.1279A>C (p.Arg427=)
c.886A>C (p.Arg296=)
4g.186209149A>GCA358950455CYP4V2,KLKB1c.1282A>G (p.Arg428Gly)
n.517A>G
n.5980A>G
c.78A>G
n.372A>G
c.1279A>G (p.Arg427Gly)
c.886A>G (p.Arg296Gly)
 gnomAD v4
4g.186209149A>TCA358950456CYP4V2,KLKB1c.1282A>T (p.Arg428Ter)
n.517A>T
n.5980A>T
c.78A>T
n.372A>T
c.1279A>T (p.Arg427Ter)
c.886A>T (p.Arg296Ter)
4g.186209150G>ACA358950458CYP4V2,KLKB1c.1283G>A (p.Arg428Lys)
n.518G>A
n.5981G>A
c.79G>A
n.373G>A
c.1280G>A (p.Arg427Lys)
c.887G>A (p.Arg296Lys)
4g.186209150G>CCA358950459CYP4V2,KLKB1c.1283G>C (p.Arg428Thr)
n.518G>C
n.5981G>C
c.79G>C
n.373G>C
c.1280G>C (p.Arg427Thr)
c.887G>C (p.Arg296Thr)
4g.186209150G>TCA358950457CYP4V2,KLKB1c.1283G>T (p.Arg428Ile)
n.518G>T
n.5981G>T
c.79G>T
n.373G>T
c.1280G>T (p.Arg427Ile)
c.887G>T (p.Arg296Ile)
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.186209151A=CA1519891433CYP4V2,KLKB1c.1284A= (p.Arg428=)
n.519A=
n.5982A=
c.80A=
n.374A=
c.1281A= (p.Arg427=)
c.888A= (p.Arg296=)
4g.186209151A>CCA358950460CYP4V2,KLKB1c.1284A>C (p.Arg428Ser)
n.519A>C
n.5982A>C
c.80A>C
n.374A>C
c.1281A>C (p.Arg427Ser)
c.888A>C (p.Arg296Ser)
4g.186209151A>GCA3162816CYP4V2,KLKB1c.1284A>G (p.Arg428=)
n.519A>G
n.5982A>G
c.80A>G
n.374A>G
c.1281A>G (p.Arg427=)
c.888A>G (p.Arg296=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.186209151A>TCA358950461CYP4V2,KLKB1c.1284A>T (p.Arg428Ser)
n.519A>T
n.5982A>T
c.80A>T
n.374A>T
c.1281A>T (p.Arg427Ser)
c.888A>T (p.Arg296Ser)
4g.186209152G>ACA358950462CYP4V2,KLKB1c.1285G>A (p.Asp429Asn)
n.520G>A
n.5983G>A
c.81G>A
n.375G>A
c.1282G>A (p.Asp428Asn)
c.889G>A (p.Asp297Asn)
4g.186209152G>CCA358950463CYP4V2,KLKB1c.1285G>C (p.Asp429His)
n.520G>C
n.5983G>C
c.81G>C
n.375G>C
c.1282G>C (p.Asp428His)
c.889G>C (p.Asp297His)
4g.186209152G=CA1519891434CYP4V2,KLKB1c.1285G= (p.Asp429=)
n.520G=
n.5983G=
c.81G=
n.375G=
c.1282G= (p.Asp428=)
c.889G= (p.Asp297=)
4g.186209152G>TCA3162817CYP4V2,KLKB1c.1285G>T (p.Asp429Tyr)
n.520G>T
n.5983G>T
c.81G>T
n.375G>T
c.1282G>T (p.Asp428Tyr)
c.889G>T (p.Asp297Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.186209153A=CA1519891435CYP4V2,KLKB1c.1286A= (p.Asp429=)
n.521A=
n.5984A=
c.82A=
n.376A=
c.1283A= (p.Asp428=)
c.890A= (p.Asp297=)
4g.186209153A>CCA358950464CYP4V2,KLKB1c.1286A>C (p.Asp429Ala)
n.521A>C
n.5984A>C
c.82A>C
n.376A>C
c.1283A>C (p.Asp428Ala)
c.890A>C (p.Asp297Ala)
4g.186209153A>GCA358950465CYP4V2,KLKB1c.1286A>G (p.Asp429Gly)
n.521A>G
n.5984A>G
c.82A>G
n.376A>G
c.1283A>G (p.Asp428Gly)
c.890A>G (p.Asp297Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.186209153A>TCA358950466CYP4V2,KLKB1c.1286A>T (p.Asp429Val)
n.521A>T
n.5984A>T
c.82A>T
n.376A>T
c.1283A>T (p.Asp428Val)
c.890A>T (p.Asp297Val)
4g.186209154T>ACA358950467CYP4V2,KLKB1c.1287T>A (p.Asp429Glu)
n.522T>A
n.5985T>A
c.83T>A
n.377T>A
c.1284T>A (p.Asp428Glu)
c.891T>A (p.Asp297Glu)
4g.186209154T>CCA442882492CYP4V2,KLKB1c.1287T>C (p.Asp429=)
n.522T>C
n.5985T>C
c.83T>C
n.377T>C
c.1284T>C (p.Asp428=)
c.891T>C (p.Asp297=)
4g.186209154T>GCA3162818CYP4V2,KLKB1c.1287T>G (p.Asp429Glu)
n.522T>G
n.5985T>G
c.83T>G
n.377T>G
c.1284T>G (p.Asp428Glu)
c.891T>G (p.Asp297Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.186209154T=CA1519891436CYP4V2,KLKB1c.1287T= (p.Asp429=)
n.522T=
n.5985T=
c.83T=
n.377T=
c.1284T= (p.Asp428=)
c.891T= (p.Asp297=)
4g.186209155C>ACA358950470CYP4V2,KLKB1c.1288C>A (p.Pro430Thr)
n.523C>A
n.5986C>A
c.84C>A
n.378C>A
c.1285C>A (p.Pro429Thr)
c.892C>A (p.Pro298Thr)
4g.186209155C>GCA358950469CYP4V2,KLKB1c.1288C>G (p.Pro430Ala)
n.523C>G
n.5986C>G
c.84C>G
n.378C>G
c.1285C>G (p.Pro429Ala)
c.892C>G (p.Pro298Ala)
4g.186209155C>TCA358950468CYP4V2,KLKB1c.1288C>T (p.Pro430Ser)
n.523C>T
n.5986C>T
c.84C>T
n.378C>T
c.1285C>T (p.Pro429Ser)
c.892C>T (p.Pro298Ser)
 COSMIC
4g.186209156C>ACA358950471CYP4V2,KLKB1c.1289C>A (p.Pro430Gln)
n.524C>A
n.5987C>A
c.85C>A
n.379C>A
c.1286C>A (p.Pro429Gln)
c.893C>A (p.Pro298Gln)
4g.186209156C=CA1519891437CYP4V2,KLKB1c.1289C= (p.Pro430=)
n.524C=
n.5987C=
c.85C=
n.379C=
c.1286C= (p.Pro429=)
c.893C= (p.Pro298=)
4g.186209156C>GCA358950472CYP4V2,KLKB1c.1289C>G (p.Pro430Arg)
n.524C>G
n.5987C>G
c.85C>G
n.379C>G
c.1286C>G (p.Pro429Arg)
c.893C>G (p.Pro298Arg)
4g.186209156C>TCA3162819CYP4V2,KLKB1c.1289C>T (p.Pro430Leu)
n.524C>T
n.5987C>T
c.85C>T
n.379C>T
c.1286C>T (p.Pro429Leu)
c.893C>T (p.Pro298Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209157G>ACA3162820CYP4V2,KLKB1c.1290G>A (p.Pro430=)
n.525G>A
n.5988G>A
c.86G>A
n.380G>A
c.1287G>A (p.Pro429=)
c.894G>A (p.Pro298=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209157G>CCA442882508CYP4V2,KLKB1c.1290G>C (p.Pro430=)
n.525G>C
n.5988G>C
c.86G>C
n.380G>C
c.1287G>C (p.Pro429=)
c.894G>C (p.Pro298=)
 dbSNP
4g.186209157G=CA1519891438CYP4V2,KLKB1c.1290G= (p.Pro430=)
n.525G=
n.5988G=
c.86G=
n.380G=
c.1287G= (p.Pro429=)
c.894G= (p.Pro298=)
4g.186209157G>TCA442882504CYP4V2,KLKB1c.1290G>T (p.Pro430=)
n.525G>T
n.5988G>T
c.86G>T
n.380G>T
c.1287G>T (p.Pro429=)
c.894G>T (p.Pro298=)
4g.186209158A>CCA442882511CYP4V2,KLKB1c.1291A>C (p.Arg431=)
n.526A>C
n.5989A>C
c.87A>C
n.381A>C
c.1288A>C (p.Arg430=)
c.895A>C (p.Arg299=)
4g.186209158A>GCA358950473CYP4V2,KLKB1c.1291A>G (p.Arg431Gly)
n.526A>G
n.5989A>G
c.87A>G
n.381A>G
c.1288A>G (p.Arg430Gly)
c.895A>G (p.Arg299Gly)
4g.186209158A>TCA358950474CYP4V2,KLKB1c.1291A>T (p.Arg431Ter)
n.526A>T
n.5989A>T
c.87A>T
n.381A>T
c.1288A>T (p.Arg430Ter)
c.895A>T (p.Arg299Ter)
4g.186209159G>ACA358950475CYP4V2,KLKB1c.1292G>A (p.Arg431Lys)
n.527G>A
n.5990G>A
c.88G>A
n.382G>A
c.1289G>A (p.Arg430Lys)
c.896G>A (p.Arg299Lys)
4g.186209159G>CCA358950476CYP4V2,KLKB1c.1292G>C (p.Arg431Thr)
n.527G>C
n.5990G>C
c.88G>C
n.382G>C
c.1289G>C (p.Arg430Thr)
c.896G>C (p.Arg299Thr)
4g.186209159G>TCA358950477CYP4V2,KLKB1c.1292G>T (p.Arg431Ile)
n.527G>T
n.5990G>T
c.88G>T
n.382G>T
c.1289G>T (p.Arg430Ile)
c.896G>T (p.Arg299Ile)
4g.186209160A>CCA358950478CYP4V2,KLKB1c.1293A>C (p.Arg431Ser)
n.528A>C
n.5991A>C
c.89A>C
n.383A>C
c.1290A>C (p.Arg430Ser)
c.897A>C (p.Arg299Ser)
4g.186209160A>GCA442882523CYP4V2,KLKB1c.1293A>G (p.Arg431=)
n.528A>G
n.5991A>G
c.89A>G
n.383A>G
c.1290A>G (p.Arg430=)
c.897A>G (p.Arg299=)
 gnomAD v4
4g.186209160A>TCA358950479CYP4V2,KLKB1c.1293A>T (p.Arg431Ser)
n.528A>T
n.5991A>T
c.89A>T
n.383A>T
c.1290A>T (p.Arg430Ser)
c.897A>T (p.Arg299Ser)
4g.186209161T>ACA358950482CYP4V2,KLKB1c.1294T>A (p.Tyr432Asn)
n.529T>A
n.5992T>A
c.90T>A
n.384T>A
c.1291T>A (p.Tyr431Asn)
c.898T>A (p.Tyr300Asn)
4g.186209161T>CCA358950481CYP4V2,KLKB1c.1294T>C (p.Tyr432His)
n.529T>C
n.5992T>C
c.90T>C
n.384T>C
c.1291T>C (p.Tyr431His)
c.898T>C (p.Tyr300His)
 dbSNP
4g.186209161T>GCA358950480CYP4V2,KLKB1c.1294T>G (p.Tyr432Asp)
n.529T>G
n.5992T>G
c.90T>G
n.384T>G
c.1291T>G (p.Tyr431Asp)
c.898T>G (p.Tyr300Asp)
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)
 ClinVar 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

Number of alleles fetched